LAMA2 (laminin subunit alpha 2)

Gene

• Entrez ID: 3908
• Gene name: Laminin subunit alpha 2
• Gene symbol: LAMA2
• Synonyms (NCBI Gene): LAMM, MDC1A
• Chromosome: 6
• Chromosome location: 6q22.33
• Summary: Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix compon

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs9492297	G>A,C	Pathogenic	Splice acceptor variant
rs41285286	T>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs56035053	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs56173620	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs56209257	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs62421010	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs78880369	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs112637707	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs117422805	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121913569	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs121913570	T>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121913572	C>G,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs121913573	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913574	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs121913575	C>T	Pathogenic	Stop gained, coding sequence variant
rs121913576	C>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs121913577	C>A	Pathogenic	Stop gained, coding sequence variant
rs137962409	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs139586720	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs140483001	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141101234	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141340479	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs141363186	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs142083777	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs142126511	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs142671449	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant
rs143343647	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs144845618	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs145420388	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs145465528	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, missense variant
rs147077184	C>T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147744763	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148060790	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs149753273	T>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs150596964	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs150644209	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs150730793	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs150945378	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs151009169	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs186538779	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs191899712	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs200030296	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant
rs200288072	G>A	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant
rs200364660	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs200469923	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs200669208	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs200923373	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs200953311	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201632009	G>A,C,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs202247790	AG>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs202247791	->ACGTGTTC	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs202247792	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant
rs368379507	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs369558532	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs369596190	A>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs369776766	C>T	Pathogenic	Coding sequence variant, stop gained
rs372715292	A>G,T	Likely-pathogenic	Splice acceptor variant
rs374403765	T>C	Pathogenic, likely-pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs375638381	C>T	Pathogenic	Coding sequence variant, stop gained
rs376014152	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs376088608	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs376430565	G>C	Likely-pathogenic	Splice donor variant
rs398123367	G>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs398123368	G>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs398123369	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398123371	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs398123372	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123373	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs398123375	G>A	Pathogenic	Splice donor variant
rs398123377	CTCATCT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123378	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123379	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123380	T>-	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123382	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs398123383	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs398123385	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs398123387	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs535635043	C>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, stop gained
rs553221833	G>A	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs567385461	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs573779258	C>A,T	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, synonymous variant, coding sequence variant
rs727502851	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs727503992	AGGGCATTGTTTTTCAACATCCA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs730880252	T>C	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs746201268	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs746641607	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs746678525	AAGT>-,AAGTAAGT	Pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant, splice donor variant
rs746762473	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, genic downstream transcript variant
rs746844753	CTTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs747349942	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs747567057	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs748541803	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs749522728	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs750220830	TTCTCTACATATAATCCTCAAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs750731624	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs753886576	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs756854513	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs757404275	TA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs757435241	G>A,C,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs758775001	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs758887080	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs759516529	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs759555791	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs762806915	C>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs764839142	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs766920075	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs767784355	G>-	Likely-pathogenic	Splice acceptor variant
rs768458445	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs770084568	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs770617208	G>T	Pathogenic, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs770895341	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs771046502	G>C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs773209126	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs774051471	->TGCA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs775112258	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs775676341	C>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs776548207	G>-	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs778539477	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs780368037	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs781376927	G>A	Pathogenic	Splice donor variant
rs786204779	A>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs786205654	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs794727396	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs794727594	G>-	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs797044643	->ATGTTCAC	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs797044728	->AGTGCCTAACG	Pathogenic	Stop gained, coding sequence variant, inframe indel, genic upstream transcript variant
rs863224891	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886039482	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039541	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886041297	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042847	->GAAGACT	Pathogenic	Stop gained, coding sequence variant
rs886043374	TA>-	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs886043630	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886043648	A>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs886043692	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886044330	T>G	Pathogenic	Stop gained, coding sequence variant
rs886044344	CAATTGTCATG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886061039	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs945091158	G>C	Likely-pathogenic	Splice donor variant
rs993196576	A>G	Likely-pathogenic	Splice acceptor variant
rs1018100729	C>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1028599119	C>G	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1055407857	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057518119	G>A	Likely-pathogenic	Splice donor variant
rs1057524616	G>T	Likely-pathogenic	Intron variant
rs1064794941	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1064795451	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797040	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1064797327	G>A,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1064797328	ACTG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1131691660	G>C,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs1180309541	C>T	Pathogenic	Coding sequence variant, stop gained
rs1185229314	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1205783002	TA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1209130981	AT>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1211739649	A>-,AAAAA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1221715098	G>A	Likely-pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant
rs1246940477	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1248727589	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1262029350	G>C,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1278823424	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1289855948	G>T	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1293303410	C>-	Likely-pathogenic, pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1296761337	G>A,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1303773212	C>T	Likely-pathogenic, not-provided	Coding sequence variant, genic upstream transcript variant, stop gained, upstream transcript variant
rs1326401124	T>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1338860420	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1360796756	C>G,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs1374568851	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, stop gained
rs1392196900	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1404492484	G>A	Likely-pathogenic	Splice donor variant
rs1415944134	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1433071073	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1441933780	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1480934961	->AAGA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554217476	AATTCAATGTTATTGTTGTTGTTATACTTCCCTAGG>-	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1554217494	CTAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATG>-	Pathogenic	Genic upstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1554226186	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554226188	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554227092	->CT	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554230429	GT>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554230455	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554234051	G>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554234161	G>A,T	Pathogenic, uncertain-significance	Splice donor variant, genic upstream transcript variant
rs1554234163	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554238384	AA>-	Pathogenic	Upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554256965	G>A	Likely-pathogenic	Splice donor variant
rs1554260284	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554268940	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554269855	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554269891	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554269966	T>C,G	Pathogenic	Splice donor variant
rs1554278541	A>T	Likely-pathogenic	Splice acceptor variant
rs1554285766	C>-	Pathogenic	Intron variant
rs1554286963	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554290311	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554290316	T>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554295204	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554297242	->G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554297727	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1554299897	G>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1554301637	TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1554301854	AATAGAG>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1554301883	->GA	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554303937	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant
rs1554304931	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554305006	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554305937	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554310169	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554310242	TCCAG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554312639	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554312687	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1562200866	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1562273395	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1562275792	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1562281922	G>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1562449164	A>C	Likely-pathogenic	Splice acceptor variant
rs1562451730	T>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1562497781	T>GGCC	Pathogenic	Splice donor variant
rs1562512707	A>G	Likely-pathogenic	Splice acceptor variant
rs1562530132	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562614305	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1583149141	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1583169151	G>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1583169165	A>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1583219849	AAGCCCTGCCGCACAGCTACTACTGGAGCGCGCCGGCTCCC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1583345113	TACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583421520	C>T	Pathogenic	Coding sequence variant, stop gained
rs1583447808	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1583469739	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1583470073	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583475938	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583591577	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs1583756552	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1583790201	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1583813573	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1583815667	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583845651	->T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT444725	hsa-miR-3133	PAR-CLIP	22100165
MIRT444724	hsa-miR-4511	PAR-CLIP	22100165
MIRT444723	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444722	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444721	hsa-miR-4452	PAR-CLIP	22100165
MIRT444720	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444725	hsa-miR-3133	PAR-CLIP	22100165
MIRT444724	hsa-miR-4511	PAR-CLIP	22100165
MIRT444723	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444722	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444721	hsa-miR-4452	PAR-CLIP	22100165
MIRT444720	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444725	hsa-miR-3133	PAR-CLIP	22100165
MIRT444724	hsa-miR-4511	PAR-CLIP	22100165
MIRT444723	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444722	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444721	hsa-miR-4452	PAR-CLIP	22100165
MIRT444720	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT444725	hsa-miR-3133	PAR-CLIP	22100165
MIRT444724	hsa-miR-4511	PAR-CLIP	22100165
MIRT444723	hsa-miR-539-5p	PAR-CLIP	22100165
MIRT444722	hsa-miR-183-3p	PAR-CLIP	22100165
MIRT444721	hsa-miR-4452	PAR-CLIP	22100165
MIRT444720	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT1103231	hsa-miR-1236	CLIP-seq
MIRT1103232	hsa-miR-1343	CLIP-seq
MIRT1103233	hsa-miR-2052	CLIP-seq
MIRT1103234	hsa-miR-3170	CLIP-seq
MIRT1103235	hsa-miR-514	CLIP-seq
MIRT1103236	hsa-miR-514b-3p	CLIP-seq
MIRT2430505	hsa-miR-186	CLIP-seq
MIRT2430506	hsa-miR-29a	CLIP-seq
MIRT2430507	hsa-miR-29b	CLIP-seq
MIRT2430508	hsa-miR-29c	CLIP-seq
MIRT2430509	hsa-miR-4427	CLIP-seq
MIRT2430510	hsa-miR-4680-3p	CLIP-seq
MIRT2430511	hsa-miR-767-5p	CLIP-seq
MIRT1103231	hsa-miR-1236	CLIP-seq
MIRT1103232	hsa-miR-1343	CLIP-seq
MIRT1103234	hsa-miR-3170	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005198	Function	Structural molecule activity	TAS	2185464
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 27068509, 27559042, 28675934
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	2099832, 14557481
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	NAS	1678389
GO:0005604	Component	Basement membrane	TAS	2185464
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007517	Process	Muscle organ development	TAS	7550355
GO:0014037	Process	Schwann cell differentiation	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 27559042, 28675934
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032224	Process	Positive regulation of synaptic transmission, cholinergic	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042383	Component	Sarcolemma	IEA
GO:0043083	Component	Synaptic cleft	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045785	Process	Positive regulation of cell adhesion	NAS	3794389
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0051149	Process	Positive regulation of muscle cell differentiation	NAS	26555376
GO:0098637	Component	Protein complex involved in cell-matrix adhesion	NAS	3109910
GO:0110011	Process	Regulation of basement membrane organization	NAS	2119632
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	NAS	23948589

Other IDs

• MIM: 156225
• HGNC: 6482
• e!Ensembl: ENSG00000196569

Protein

• UniProt ID: P24043
• Protein name: Laminin subunit alpha-2 (Laminin M chain) (Laminin-12 subunit alpha) (Laminin-2 subunit alpha) (Laminin-4 subunit alpha) (Merosin heavy chain)
• Protein function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
• PDB: 4YEP, 4YEQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00055	Laminin_N	39 → 285	Laminin N-terminal (Domain VI)	Family
  PF00053	Laminin_EGF	287 → 341	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	344 → 411	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	414 → 468	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	469 → 515	Laminin EGF domain	Domain
  PF00052	Laminin_B	583 → 722	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	719 → 749	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	757 → 804	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	807 → 862	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	865 → 915	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	918 → 964	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	967 → 1011	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1014 → 1057	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1060 → 1108	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1106 → 1163	Laminin EGF domain	Domain
  PF00052	Laminin_B	1234 → 1378	Laminin B (Domain IV)	Family
  PF00053	Laminin_EGF	1376 → 1408	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1420 → 1466	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1469 → 1524	Laminin EGF domain	Domain
  PF00053	Laminin_EGF	1527 → 1578	Laminin EGF domain	Domain
  PF06008	Laminin_I	1593 → 1853	Laminin Domain I	Coiled-coil
  PF06009	Laminin_II	2037 → 2173	Laminin Domain II	Coiled-coil
  PF00054	Laminin_G_1	2174 → 2314	Laminin G domain	Domain
  PF00054	Laminin_G_1	2368 → 2507	Laminin G domain	Domain
  PF00054	Laminin_G_1	2554 → 2695	Laminin G domain	Domain
  PF00054	Laminin_G_1	2793 → 2921	Laminin G domain	Domain
  PF02210	Laminin_G_2	2968 → 3096	Laminin G domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Placenta, striated muscle, peripheral nerve, cardiac muscle, pancreas, lung, spleen, kidney, adrenal gland, skin, testis, meninges, choroid plexus, and some other regions of the brain; not in liver, thymus and bone.
• Sequence:

  MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGE
  KGPEMYCKLVEHVPGQPVRNPQCRICNQNSSNPNQRHPITNAIDGKNTWWQSPSIKNGIE
  YHYVTITLDLQQVFQIAYVIVKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLY
  NIYPRTGPPSYAKDDEVICTSFYSKIHPLENGEIHISLINGRPSADDPSPELLEFTSARY
  IRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKDISVGGMCICYGHARACPLDP
  ATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKAEECYYDENVA
  RRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRPKGVSPNYPRPCQPCHCDPIG
  SLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNED
  PCFGPCICKENVEGGDCSRCKSGFFNLQEDNWKGCDECFCSGVSNRCQSSYWTYGKIQDM
  SGWYLTDLPGRIRVAPQQDDLDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGG
  QLTFTISYDLEEEEEDTERVLQLMIILEGNDLSISTAQDEVYLHPSEEHTNVLLLKEESF
  TIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRLSSVNLESAVSYPTDGSIAAA
  VEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGICEPCQCFGHAESCDDVTGECLNCKDHT
  GGPYCDKCLPGFYGEPTKGTSEDCQPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYT
  GPRCERCAEGYFGQPSVPGGSCQPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCEL
  CADGYFGDAVDAKNCQPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQS
  ARGCVPCNCNSFGSKSFDCEESGQCWCQPGVTGKKCDRCAHGYFNFQEGGCTACECSHLG
  NNCDPKTGRCICPPNTIGEKCSKCAPNTWGHSITTGCKACNCSTVGSLDFQCNVNTGQCN
  CHPKFSGAKCTECSRGHWNYPRCNLCDCFLPGTDATTCDSETKKCSCSDQTGQCTCKVNV
  EGIHCDRCRPGKFGLDAKNPLGCSSCYCFGTTTQCSEAKGLIRTWVTLKAEQTILPLVDE
  ALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFE
  AREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLTRHEIEMTEKEWKYYGDDPRV
  HRTVTREDFLDILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKC
  DCPLGYSGLSCEACLPGFYRLRSQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQ
  HHTAGDFCERCALGYYGIVKGLPNDCQQCACPLISSSNNFSPSCVAEGLDDYRCTACPRG
  YEGQYCERCAPGYTGSPGNPGGSCQECECDPYGSLPVPCDPVTGFCTCRPGATGRKCDGC
  KHWHAREGWECVFCGDECTGLLLGDLARLEQMVMSINLTGPLPAPYKMLYGLENMTQELK
  HLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGE
  FIKELARDAEAVNEKAIKLNETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIA
  EDELVAAEALLKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREA
  NRLFAVNQKNMTALEKKKEAVESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQ
  TKLPPMSEELNDKIDDLSQEIKDRKLAEKVSQAESHAAQLNDSSAVLDGILDEAKNISFN
  ATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPRGLLKEDAKGCLQKSFRILNE
  AKKLANDVKENEDHLNGLKTRIENADARNGDLLRTLNDTLGKLSAIPNDTAAKLQAVKDK
  ARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNKIIADADATVK
  NLEQEADRLIDKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKP
  EIKKGSYNNIVVNVKTAVADNLLFYLGSAKFIDFLAIEMRKGKVSFLWDVGSGVGRVEYP
  DLTIDDSYWYRIVASRTGRNGTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLF
  VGGLTGKLKKADAVRVITFTGCMGETYFDNKPIGLWNFREKEGDCKGCTVSPQVEDSEGT
  IQFDGEGYALVSRPIRWYPNISTVMFKFRTFSSSALLMYLATRDLRDFMSVELTDGHIKV
  SYDLGSGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIATSSSGNNFGL
  DLKADDKIYFGGLPTLRNLSMKARPEVNLKKYSGCLKDIEISRTPYNILSSPDYVGVTKG
  CSLENVYTVSFPKPGFVELSPVPIDVGTEINLSFSTKNESGIILLGSGGTPAPPRRKRRQ
  TGQAYYAILLNRGRLEVHLSTGARTMRKIVIRPEPNLFHDGREHSVHVERTRGIFTVQVD
  ENRRYMQNLTVEQPIEVKKLFVGGAPPEFQPSPLRNIPPFEGCIWNLVINSVPMDFARPV
  SFKNADIGRCAHQKLREDEDGAAPAEIVIQPEPVPTPAFPTPTPVLTHGPCAAESEPALL
  IGSKQFGLSRNSHIAIAFDDTKVKNRLTIELEVRTEAESGLLFYMARINHADFATVQLRN
  GLPYFSYDLGSGDTHTMIPTKINDGQWHKIKIMRSKQEGILYVDGASNRTISPKKADILD
  VVGMLYVGGLPINYTTRRIGPVTYSIDGCVRNLHMAEAPADLEQPTSSFHVGTCFANAQR
  GTYFDGTGFAKAVGGFKVGLDLLVEFEFRTTTTTGVLLGISSQKMDGMGIEMIDEKLMFH
  VDNGAGRFTAVYDAGVPGHLCDGQWHKVTANKIKHRIELTVDGNQVEAQSPNPASTSADT
  NDPVFVGGFPDDLKQFGLTTSIPFRGCIRSLKLTKGTGKPLEVNFAKALELRGVQPVSCP
  AN

• Sequence length: 3122

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Toxoplasmosis
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

Reactome:

Laminin interactions
MET activates PTK2 signaling

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of the musculature	Pathogenic; Likely pathogenic	rs868019991, rs2114532990, rs2114568250, rs2114593671, rs1217989194, rs2114788484, rs2114788785, rs2114939208, rs886039896, rs781376927, rs750328754, rs398123380	RCV001814340 RCV001814495 RCV001814464 RCV001814351 RCV001814533 RCV001814344 RCV001814466 RCV001814473 RCV001814136 RCV001814178 RCV001814272 RCV001814047
Congenital muscular dystrophy	Pathogenic; Likely pathogenic	rs2114432671, rs1562530132	RCV001541905 RCV000678476
Congenital muscular dystrophy due to partial LAMA2 deficiency	Pathogenic; Likely pathogenic	rs121913575, rs121913576, rs914395925, rs776548207, rs1554269966, rs1415944134	RCV000015369 RCV000015370 RCV000779488 RCV000503859 RCV000015363 RCV000778777
Congenital Muscular Dystrophy, LAMA2-related	Pathogenic; Likely pathogenic	rs121913572, rs1246940477, rs1296761337, rs1583149141	RCV001794447 RCV002279724 RCV001796177 RCV000791179
Elevated circulating creatine kinase concentration	Pathogenic	rs398123383	RCV000626687
Exercise-induced myalgia	Pathogenic	rs398123383	RCV000626687
Gastric cancer	Likely pathogenic	rs757435241	RCV005901452
Hypotonia	Pathogenic	rs1583169151	RCV000850320
LAMA2-related disorder	Pathogenic; Likely pathogenic	rs886039482, rs2482416664, rs121913572, rs121913576, rs1776964566, rs202247790, rs768458445, rs1018100729, rs1562451730, rs398123372	RCV004737394 RCV005871208 RCV004532360 RCV002444431 RCV004531867 RCV005250000 RCV004533466 RCV004723056 RCV004737998 RCV004737184
LAMA2-related muscular dystrophy	Likely pathogenic; Pathogenic	rs1256865383, rs1784599832, rs1786303769, rs968447029, rs1773291512, rs2114494623, rs2114620232, rs2114670709, rs148433965, rs1443920683, rs112827330, rs2114958680, rs2114967780, rs2114276382, rs1786070922, rs1786309286, rs1562389593, rs2114391000, rs2114391108, rs1583469993, rs2114494356, rs2114501598, rs2114502447, rs2114568240, rs758048573, rs770084568, rs2114620061, rs1276300668, rs1780109910, rs2114788848, rs2114801377, rs200669208, rs2114823800, rs2114848989, rs2114891707, rs1345757357, rs2114939704, rs2114939909, rs2114939917, rs2114654019, rs868019991, rs2114788484, rs1786879628, rs1276312596, rs2114503272, rs1775302275, rs2114502893, rs2114740915, rs1789391655, rs2114839550, rs2114765447, rs1351661862, rs2114770006, rs2114568387, rs2114494398, rs2114619908, rs761714859, rs2114674819, rs2114860862, rs2114890695, rs2114276718, rs2114859541, rs2114993363, rs761456598, rs1457748796, rs1785749704, rs922640025, rs2114761115, rs1780112044, rs36044314, rs2114976490, rs2114911219, rs2114834541, rs1774572282, rs2114420319, rs2114627508, rs2114859580, rs2114320699, rs2114420247, rs2114460969, rs2114276133, rs752812435, rs746785436, rs2114532949, rs2114888851, rs200625655, rs2114593440, rs2114901040, rs1384474600, rs2114533123, rs2114890769, rs1361925574, rs757164022, rs1446002589, rs2114931095, rs2114671870, rs1296345962, rs2114593280, rs2114765432, rs1258407314, rs2114873389, rs909847521, rs1779406142, rs2114967843, rs2114532848, rs2114493974, rs2114593621, rs2114900655, rs2114939796, rs2114901162, rs2115037261, rs2114849148, rs2114276465, rs2114873123, rs2114627220, rs1222620175, rs2114276683, rs1424455269, rs2114593373, rs757661749, rs2114931240, rs2114900886, rs2114765686, rs1156538773, rs2114947621, rs776889674, rs1256470015, rs2114823738, rs2114967814, rs2114501078, rs779834223, rs867012156, rs727502851, rs727503992, rs1583169005, rs2482334983, rs149896793, rs371944692, rs760169730, rs1773279785, rs2533505974, rs186538779, rs200923373, rs1775428953, rs1253505269, rs749522728, rs142451929, rs759555791, rs2482237536, rs749162150, rs794727594, rs771046502, rs2482129454, rs766920075, rs748694238, rs2482238214, rs1554305006, rs945091158, rs1343506367, rs2482428540, rs1211886873, rs2533298071, rs2482690509, rs2482237307, rs2482439531, rs2533599564, rs2482415741, rs2482118846, rs2482624911, rs2482334689, rs1781951075, rs766257849, rs1262029350, rs759055212, rs1443093432, rs2533441727, rs2482367178, rs2533505955, rs2482367028, rs2533433163, rs1778791602, rs2482628176, rs2482399450, rs2482414524, rs2533379703, rs2482626629, rs2533392062, rs2533416106, rs1301666663, rs763480874, rs2482776932, rs2482419215, rs1782331450, rs770617208, rs2533599555, rs2482690703, rs2533490558, rs863224891, rs2533416334, rs2533599065, rs1064797327, rs2533599000, rs2482627503, rs2533386156, rs2482736672, rs2533443750, rs2482308729, rs2482292319, rs2533537852, rs2482367090, rs2533424883, rs2482737363, rs2482130457, rs2482776881, rs2482725469, rs1775316036, rs2482531900, rs2114834693, rs745363589, rs2533398638, rs2482399889, rs2533385613, rs2533490645, rs1359108756, rs773209126, rs1398516348, rs1786674391, rs2482532111, rs746201268, rs747349942, rs886039482, rs886039541, rs886041297, rs750220830, rs886042847, rs756854513, rs886043374, rs886043630, rs886043648, rs886043692, rs758775001, rs754600708, rs1583133314, rs2533459456, rs1276391947, rs1787861114, rs2533534992, rs752763391, rs2533478288, rs2533600037, rs773053547, rs2482194892, rs2533301556, rs1779423047, rs759727498, rs2533379741, rs2482427460, rs2482776429, rs781376927, rs2482416953, rs2533416225, rs2533424772, rs2482210602, rs2533504630, rs2482439825, rs2533504443, rs2533443782, rs2482308483, rs2482669962, rs2482279719, rs748356668, rs2482625294, rs2482291664, rs2482416664, rs2482419093, rs2533562422, rs774019483, rs2482776142, rs2482575969, rs2482308831, rs2482725528, rs2533295360, rs2533599570, rs2482624832, rs780154697, rs121913569, rs121913571, rs121913572, rs121913575, rs121913576, rs121913577, rs1306125686, rs2533504504, rs1271214101, rs2482531836, rs757435241, rs2533599407, rs760128108, rs2482308835, rs2533416410, rs2482596061, rs2482439920, rs1298336252, rs2533503977, rs2533477720, rs2482428290, rs2533472032, rs1467076006, rs2482596558, rs2482194379, rs2482334653, rs1217170426, rs2482416511, rs897866453, rs1051753046, rs2482348803, rs2482584340, rs2533441401, rs756131313, rs1057518119, rs914395925, rs200288072, rs1554260284, rs1064797040, rs1131691660, rs1554297242, rs762806915, rs776548207, rs1554269966, rs746678525, rs1554312687, rs1303773212, rs1028599119, rs1554234161, rs1554290311, rs1554226188, rs375638381, rs1554269891, rs1554315373, rs1209130981, rs1374568851, rs369776766, rs1554297727, rs1554301854, rs1554305937, rs374403765, rs1554230455, rs750731624, rs1554295204, rs1293303410, rs1205783002, rs202247791, rs202247790, rs1554268940, rs1246940477, rs1554316216, rs1554312639, rs1554301883, rs372715292, rs535635043, rs1554227092, rs775676341, rs376088608, rs1404492484, rs1554286963, rs1211739649, rs768458445, rs886061039, rs1360796756, rs1441933780, rs1554234163, rs1278823424, rs767784355, rs759144210, rs1018100729, rs774051471, rs993196576, rs145420388, rs775112258, rs757404275, rs1480934961, rs1554310169, rs1554319117, rs1554320318, rs553221833, rs1338860420, rs764839142, rs775278003, rs1363017615, rs1562512707, rs1562281922, rs1450790879, rs1248727589, rs1562614305, rs1562200866, rs1562451730, rs1180309541, rs191912891, rs1415944134, rs1562581261, rs1583845651, rs1583149141, rs1583169165, rs1583219849, rs1583345113, rs1583421520, rs143343647, rs770895341, rs1583790201, rs1583815667, rs1583919688, rs1583929127, rs1323340608, rs767841898, rs746844753, rs1185229314, rs1392196900, rs1583756552, rs747567057, rs1433071073, rs1779001902, rs1780690164, rs1774464446, rs1776950897, rs1280099731, rs1782073790, rs866663584, rs1784334715, rs1784889421, rs1784914735, rs1785972046, rs1785973861, rs1211322465, rs1776314873, rs1207051921, rs750328754, rs755643402, rs1778789800, rs1780027332, rs1781395670, rs1784594432, rs1786860270, rs1788769048, rs1781452558, rs1789390592, rs1186050632, rs1231277831, rs1376412082, rs1782332430, rs1787058325, rs1776322102, rs1226441435, rs749566145, rs1784912657, rs1786309735, rs1784205288, rs1370654793, rs1782086875, rs1244029486, rs1785975460, rs1008335405, rs1789395190, rs1778794887, rs1782333085, rs1784919273, rs1034133545, rs398123367, rs398123368, rs9492297, rs398123371, rs398123372, rs398123373, rs398123375, rs201632009, rs398123377, rs398123378, rs398123383, rs398123385, rs398123387, rs398123390	RCV001316731 RCV003574877 RCV003814848 RCV001378648 RCV001377163 RCV001378215 RCV001377274 RCV001378282 RCV001377445 RCV001379914 RCV001379341 RCV001387548 RCV001381768 RCV001390272 RCV001384393 RCV001390679 RCV001385009 RCV001390273 RCV001381082 RCV001381276 RCV001386377 RCV001387135 RCV001387941 RCV001388339 RCV001389233 RCV001380822 RCV001381201 RCV001389038 RCV001385712 RCV001380526 RCV001385176 RCV001388199 RCV001382670 RCV001380832 RCV001388499 RCV001380862 RCV001383069 RCV001390726 RCV001381209 RCV001389059 RCV003581794 RCV002568237 RCV003574880 RCV001865999 RCV003574882 RCV002543894 RCV002544247 RCV002034568 RCV003848725 RCV003574884 RCV002034599 RCV002034600 RCV003574887 RCV002035905 RCV001894645 RCV001913853 RCV001920414 RCV001880540 RCV001899235 RCV001922458 RCV001924296 RCV002012684 RCV001979129 RCV001875254 RCV002049718 RCV001994592 RCV001999889 RCV001994596 RCV001960566 RCV001941713 RCV001939431 RCV001939471 RCV001884345 RCV001936265 RCV001970115 RCV001950927 RCV001992109 RCV001937288 RCV001911054 RCV001905044 RCV001972668 RCV001964332 RCV001975519 RCV002005030 RCV001997082 RCV001932530 RCV001996688 RCV001989808 RCV002020309 RCV001927455 RCV001919511 RCV001874587 RCV001944419 RCV001993264 RCV002019151 RCV002000175 RCV002035246 RCV001897459 RCV001916271 RCV002007455 RCV002007554 RCV001942095 RCV001872860 RCV002011319 RCV001895793 RCV001939344 RCV001946954 RCV001946798 RCV001956383 RCV001956405 RCV001956201 RCV002023023 RCV001952669 RCV001982915 RCV001982877 RCV001999425 RCV001902119 RCV001934851 RCV001985194 RCV001956497 RCV001975055 RCV001958691 RCV001975119 RCV002042289 RCV001912370 RCV001976932 RCV001918617 RCV002021755 RCV001866909 RCV001876515 RCV001998045 RCV002012561 RCV003094058 RCV000824022 RCV000798417 RCV003581818 RCV003102299 RCV002574710 RCV003037187 RCV003060078 RCV003060079 RCV003037189 RCV001049286 RCV000696321 RCV003079069 RCV003061557 RCV003079070 RCV003061558 RCV000799916 RCV002510358 RCV003112187 RCV000533733 RCV000700168 RCV003121428 RCV001225446 RCV002600713 RCV002635329 RCV002642363 RCV002604498 RCV002681348 RCV002706714 RCV002706377 RCV002774887 RCV002726663 RCV002736041 RCV002730759 RCV002786032 RCV002786267 RCV002791926 RCV002833144 RCV002811978 RCV002850957 RCV002856612 RCV002846673 RCV002842447 RCV002871238 RCV002880812 RCV002863812 RCV002872162 RCV002898746 RCV002866157 RCV002894032 RCV002863720 RCV002881339 RCV002876620 RCV002880330 RCV002871323 RCV002908218 RCV002877577 RCV002886451 RCV002877353 RCV002927502 RCV002932747 RCV002942029 RCV002959105 RCV002944109 RCV002943492 RCV002957871 RCV002995959 RCV000806245 RCV002999871 RCV003013467 RCV003013545 RCV003021371 RCV003014171 RCV003026144 RCV003026182 RCV003022939 RCV003021682 RCV003015775 RCV003014529 RCV003007983 RCV003013639 RCV003031553 RCV003038746 RCV003022489 RCV003033819 RCV003031850 RCV003029532 RCV003039027 RCV003027441 RCV003035706 RCV003043383 RCV003040220 RCV003044644 RCV003036514 RCV000531230 RCV003155812 RCV003226036 RCV003226673 RCV000684848 RCV000548471 RCV000654727 RCV001048138 RCV000558818 RCV001044036 RCV000553357 RCV001859599 RCV001390276 RCV001388823 RCV003574726 RCV005090373 RCV001859670 RCV000530826 RCV003738434 RCV005100175 RCV003738468 RCV005100176 RCV003988119 RCV003738469 RCV003575163 RCV003575164 RCV003575120 RCV003575122 RCV003575123 RCV003575156 RCV003575128 RCV003577765 RCV003577794 RCV003577805 RCV003577752 RCV003577755 RCV003577769 RCV003577750 RCV003577819 RCV003577876 RCV003581363 RCV003576085 RCV003582776 RCV003573568 RCV003576081 RCV003576099 RCV003573546 RCV003573547 RCV003573548 RCV003573549 RCV003573550 RCV003573551 RCV003573553 RCV003573554 RCV003573556 RCV003582857 RCV003582922 RCV003582910 RCV003582994 RCV003583021 RCV003582800 RCV003582835 RCV003582867 RCV003583095 RCV000818341 RCV003574700 RCV001068136 RCV001203616 RCV000654712 RCV000824626 RCV003738514 RCV003735146 RCV003735148 RCV003735166 RCV003735165 RCV003735204 RCV003735211 RCV003735242 RCV003735229 RCV003735307 RCV003735292 RCV003735284 RCV003735342 RCV003735352 RCV003735324 RCV003735326 RCV003735360 RCV003735436 RCV003735389 RCV003735408 RCV003735404 RCV003735472 RCV003735474 RCV003818357 RCV003856531 RCV003876702 RCV003874822 RCV003872714 RCV003876858 RCV004587706 RCV003766151 RCV003574768 RCV000529392 RCV002525929 RCV001389983 RCV001851279 RCV000654738 RCV001857011 RCV000815600 RCV003766825 RCV001857909 RCV001068964 RCV000528564 RCV002525144 RCV000709844 RCV000553778 RCV000544760 RCV000559292 RCV000532977 RCV000551647 RCV000544291 RCV000528418 RCV000543273 RCV000554369 RCV000553179 RCV000536256 RCV000548839 RCV000539415 RCV000560143 RCV000532735 RCV000551953 RCV000541193 RCV000542890 RCV000545410 RCV000525853 RCV000533416 RCV000557045 RCV003767347 RCV002531118 RCV001382263 RCV001245192 RCV000654713 RCV000654747 RCV000654722 RCV000817157 RCV001855494 RCV000691208 RCV001390274 RCV001240118 RCV001855496 RCV003574793 RCV000796871 RCV001055589 RCV001219998 RCV000809347 RCV002531335 RCV003736880 RCV000792306 RCV000824157 RCV003736881 RCV003736879 RCV001227525 RCV001208127 RCV001382669 RCV002531246 RCV001216650 RCV000685584 RCV000687779 RCV001204025 RCV002531357 RCV001855562 RCV003768015 RCV003574803 RCV001855451 RCV003574797 RCV000817774 RCV001390275 RCV001378737 RCV001041706 RCV002532137 RCV001037634 RCV000684847 RCV000685188 RCV000700827 RCV000687896 RCV000699972 RCV001861944 RCV001224973 RCV000798368 RCV005407953 RCV000796627 RCV001856176 RCV005092367 RCV002535834 RCV000802606 RCV000817853 RCV000808563 RCV000819043 RCV000819633 RCV000817121 RCV000808345 RCV000807823 RCV000804437 RCV000806668 RCV000792518 RCV000797341 RCV001858611 RCV001065129 RCV001858677 RCV003736951 RCV001869408 RCV001044037 RCV001036282 RCV001059765 RCV001071447 RCV001044223 RCV001050754 RCV001070236 RCV001041823 RCV001036283 RCV001054803 RCV001059087 RCV001044793 RCV001045182 RCV001053761 RCV001042960 RCV001053928 RCV002554828 RCV001219254 RCV001219255 RCV001218283 RCV001214977 RCV001222515 RCV001219550 RCV001206890 RCV001208411 RCV001207012 RCV001212559 RCV001201838 RCV001214183 RCV001206235 RCV001210716 RCV001223090 RCV001223789 RCV001222492 RCV001224840 RCV001236837 RCV001232711 RCV001232853 RCV001240140 RCV001244284 RCV001237683 RCV001235926 RCV001229482 RCV001226470 RCV001232322 RCV001243340 RCV001390189 RCV001880076 RCV001880072 RCV003574869 RCV002537661 RCV001880064 RCV001064438 RCV001232128 RCV003574708 RCV001854388 RCV000824139 RCV000801722 RCV001203362 RCV003736570 RCV001854389 RCV000546384 RCV001202930 RCV000528177 RCV001041852 RCV001205139
Merosin deficient congenital muscular dystrophy	Pathogenic; Likely pathogenic	rs1784599832, rs1774316033, rs968447029, rs1773291512, rs112827330, rs2114967780, rs1786070922, rs1276300668, rs1345757357, rs2114964219, rs2114654019, rs868019991, rs2114532990, rs2114848887, rs2114890786, rs2114502928, rs2114503272, rs2114794775, rs1775302275, rs2114993311, rs1351661862, rs1785749704, rs922640025, rs2114761115, rs1774572282, rs2114460969, rs1779406142, rs2114493974, rs2114593621, rs2114900655, rs2114849148, rs2114627220, rs1222620175, rs1424455269, rs2114967814, rs2114501078, rs374207670, rs2482165302, rs2114910650, rs867012156, rs2114697790, rs372370665, rs2482292750, rs2114674584, rs2533419273, rs2114451604, rs727502851, rs727503992, rs2533538365, rs2482736672, rs2533298096, rs2482439796, rs780496890, rs2482605485, rs2533539208, rs2482736603, rs2482308531, rs2533419466, rs2533301982, rs2482584694, rs2482399673, rs1223081122, rs2482129645, rs1190231274, rs2482729637, rs781772588, rs2533477734, rs2482776338, rs2482670548, rs2482251715, rs2482415558, rs2482417558, rs2482130041, rs2482439771, rs1222759165, rs2533298429, rs2482690956, rs2482308349, rs2482532201, rs2533549852, rs2533443773, rs2482427968, rs766296358, rs2482400442, rs2482640047, rs2482776508, rs2533443816, rs2533477868, rs2482626823, rs2482628114, rs2482210497, rs2533563070, rs2482605715, rs1668597244, rs1583169005, rs1773276850, rs2482251798, rs1231027193, rs2482427954, rs2482348774, rs2114357233, rs2533352412, rs765714277, rs2533537963, rs2482625026, rs2482252172, rs2533441711, rs2533477745, rs2482409857, rs2533441661, rs2482559726, rs2533419284, rs2533549889, rs2482165307, rs2482194191, rs2482440163, rs2482210063, rs2482476408, rs2533490596, rs2482767452, rs2533506263, rs2533386033, rs2114834489, rs2114795375, rs2482334983, rs2482725233, rs2482280381, rs2482627236, rs2533443583, rs2533386141, rs1441766008, rs2533385613, rs2533416629, rs2482308298, rs1330890210, rs2482776118, rs2482767348, rs1485209355, rs149896793, rs760169730, rs786204779, rs186538779, rs200923373, rs786205654, rs759555791, rs2533478288, rs749162150, rs794727594, rs771046502, rs766920075, rs1343506367, rs2533298071, rs2482415741, rs1262029350, rs2482776932, rs2482767087, rs773209126, rs143215851, rs1398516348, rs746201268, rs747349942, rs886039482, rs886039541, rs886039896, rs1554301637, rs886041297, rs750220830, rs2533608532, rs2482559032, rs770617208, rs756854513, rs886043648, rs758775001, rs754600708, rs1583133314, rs2482252099, rs2533563091, rs2482308393, rs765592025, rs2533441301, rs2533459456, rs2482237307, rs1490493934, rs1783184138, rs2482625148, rs2482129863, rs1276391947, rs2533608488, rs2482418769, rs2482476349, rs2533563652, rs2482776474, rs2482335330, rs2482639860, rs1787861114, rs921374592, rs2482238522, rs1776315132, rs2482777806, rs2533534992, rs1433459701, rs2533419214, rs2482308463, rs2482439689, rs2533478114, rs2482628074, rs766166913, rs2482308831, rs2482237647, rs2533385443, rs1562614305, rs2482639925, rs2533539139, rs2482292832, rs2482308239, rs2482366814, rs2482308373, rs2482605583, rs780263878, rs2533587831, rs398123367, rs1423432874, rs2533587597, rs2482776159, rs2533505866, rs2533416225, rs2482291664, rs121913569, rs121913571, rs2533535042, rs121913572, rs121913575, rs121913576, rs121913577, rs1562275792, rs2533441401, rs767799742, rs2482690290, rs1211739649, rs774208594, rs2482118024, rs2482605796, rs2482737064, rs2482292094, rs2482575909, rs2482252041, rs2482348094, rs2482439925, rs2533550713, rs2482292281, rs2533538885, rs2533301924, rs764625508, rs1057518119, rs914395925, rs200288072, rs1554260284, rs770084568, rs1064797040, rs1131691660, rs762806915, rs1554217494, rs1554304931, rs1554269966, rs781376927, rs746678525, rs1303773212, rs1028599119, rs1554290311, rs375638381, rs1554269891, rs1209130981, rs1374568851, rs369776766, rs374403765, rs750731624, rs1554295204, rs1293303410, rs202247791, rs202247790, rs1289855948, rs1246940477, rs1064797327, rs372715292, rs535635043, rs1554227092, rs1554234051, rs775676341, rs376088608, rs1404492484, rs1554278541, rs1554286963, rs768458445, rs757435241, rs1554305006, rs749522728, rs1554320205, rs749797580, rs886061039, rs1360796756, rs1441933780, rs1326401124, rs1554234163, rs1554256965, rs1278823424, rs767784355, rs759144210, rs1018100729, rs774051471, rs1296761337, rs1554226186, rs993196576, rs145420388, rs775112258, rs1554290316, rs757404275, rs1554303937, rs1480934961, rs1554310169, rs369224209, rs1554319117, rs1554320318, rs1554321125, rs553221833, rs1338860420, rs945091158, rs764839142, rs775278003, rs376430565, rs1363017615, rs200669208, rs1554310242, rs1562281922, rs1562273395, rs1055407857, rs1562451730, rs1180309541, rs191912891, rs1415944134, rs1562581261, rs1562449164, rs1583149141, rs1583219849, rs1583421520, rs143343647, rs1583790201, rs767841898, rs778539477, rs1583169151, rs746844753, rs1185229314, rs1583470073, rs1583475938, rs1392196900, rs748541803, rs1583756552, rs1583447808, rs747567057, rs1433071073, rs1785973861, rs1211322465, rs755643402, rs1781395670, rs1186050632, rs1779423047, rs749566145, rs1784912657, rs1370654793, rs1231305572, rs1042843028, rs1775300950, rs1008335405, rs1775311864, rs1775313883, rs1775315900, rs1778273068, rs781316719, rs1778283565, rs1778991422, rs1436470033, rs1779703136, rs1780700010, rs1781455687, rs1781592001, rs1781606569, rs1786068382, rs1786068836, rs1786301728, rs1786309995, rs1787059737, rs1787862380, rs1789386860, rs897845923, rs1789395190, rs1789398455, rs1789399141, rs1789399872, rs1773282962, rs1773283278, rs1187391940, rs752094219, rs1773502803, rs944013929, rs1774323015, rs1383756739, rs1774465781, rs1774541313, rs1774908660, rs1774908820, rs1776319116, rs1776730034, rs1776953529, rs1776953853, rs917205971, rs1247084547, rs762342110, rs373997222, rs1778794887, rs1779318396, rs1779323338, rs1165626901, rs1462522184, rs1781398399, rs1782086229, rs1782333085, rs1782761474, rs1783482812, rs776104105, rs1377818460, rs1784882494, rs1784888496, rs1784919273, rs1463264889, rs1034133545, rs1779702214, rs192317605, rs1784335277, rs398123368, rs398123371, rs398123372, rs398123373, rs201632009, rs398123377, rs398123378, rs398123383, rs398123385, rs398123390	RCV001329269 RCV001333436 RCV004570931 RCV003469623 RCV004570934 RCV005867011 RCV003469779 RCV003473960 RCV004570947 RCV001527398 RCV001527673 RCV003470856 RCV003463047 RCV001638186 RCV001638187 RCV001725870 RCV001725871 RCV001775248 RCV003470906 RCV001805748 RCV001808285 RCV004571711 RCV003471134 RCV005253968 RCV002250789 RCV003471182 RCV003387540 RCV003471175 RCV003984866 RCV002246625 RCV003464256 RCV003471248 RCV003470970 RCV005031971 RCV003470958 RCV003464331 RCV002052175 RCV002310595 RCV002250087 RCV005032197 RCV005032199 RCV002254242 RCV002281661 RCV002272708 RCV002283807 RCV002290291 RCV000668682 RCV000591983 RCV002306467 RCV002306481 RCV002306530 RCV002306588 RCV002306631 RCV002306634 RCV002306647 RCV002306649 RCV002306667 RCV002306688 RCV002306711 RCV002306712 RCV002306737 RCV002306747 RCV002306749 RCV002309612 RCV002309614 RCV002309622 RCV002309634 RCV002309693 RCV002309716 RCV002309742 RCV002309817 RCV002309843 RCV002309902 RCV002309993 RCV002310021 RCV002310040 RCV002307927 RCV002307997 RCV002308113 RCV002308207 RCV002308285 RCV002308292 RCV002308332 RCV002308343 RCV002308353 RCV002309071 RCV002309143 RCV002309148 RCV002309168 RCV002309176 RCV002309222 RCV002309264 RCV002309292 RCV002309295 RCV002309332 RCV003471327 RCV002309372 RCV002309376 RCV002309408 RCV002309419 RCV002309454 RCV002309458 RCV002306847 RCV002306867 RCV002306906 RCV002306911 RCV002306925 RCV002306964 RCV002306969 RCV002307002 RCV002307024 RCV002307027 RCV002307092 RCV002307098 RCV002307101 RCV002307102 RCV002307118 RCV002307155 RCV002307164 RCV002307189 RCV002307217 RCV002307296 RCV002307299 RCV002307318 RCV002310069 RCV002310084 RCV002310168 RCV002310224 RCV002310233 RCV002310249 RCV002310286 RCV002310291 RCV002310311 RCV002310330 RCV002310432 RCV002310477 RCV002310546 RCV002310569 RCV004571169 RCV003465773 RCV004572724 RCV000169663 RCV000664485 RCV000665977 RCV004567375 RCV000175397 RCV003465780 RCV004572851 RCV000177896 RCV000177930 RCV005031713 RCV004571208 RCV003464592 RCV003465831 RCV004571309 RCV003340560 RCV003465913 RCV003466003 RCV000670070 RCV004572857 RCV005870104 RCV003463718 RCV000666714 RCV001251149 RCV003469198 RCV000256378 RCV000256450 RCV002503972 RCV000670062 RCV003231060 RCV003234957 RCV000316746 RCV000399363 RCV000326246 RCV000328095 RCV003340704 RCV003469891 RCV003469892 RCV003461777 RCV003469893 RCV003461778 RCV003469894 RCV003469895 RCV003469896 RCV003469897 RCV003469898 RCV003469899 RCV003469900 RCV003469901 RCV003461779 RCV003469902 RCV003469903 RCV003469904 RCV003469905 RCV003461780 RCV003461781 RCV003469906 RCV003469907 RCV003476457 RCV003469908 RCV003461782 RCV003469909 RCV003461783 RCV003469910 RCV003469911 RCV003469912 RCV003469913 RCV003469914 RCV003469915 RCV003469916 RCV003476458 RCV003469917 RCV003469918 RCV003469919 RCV003469920 RCV003469921 RCV003469923 RCV003461784 RCV003469924 RCV003461785 RCV003469925 RCV003469926 RCV003461786 RCV003469927 RCV003469928 RCV003461787 RCV003469929 RCV003469930 RCV005036847 RCV005356470 RCV000015360 RCV000015361 RCV000015362 RCV000015366 RCV000674731 RCV000179066 RCV000015371 RCV000015372 RCV005038601 RCV004547328 RCV004576781 RCV004576782 RCV004576783 RCV004576785 RCV004576786 RCV004576787 RCV004576788 RCV004576789 RCV004576790 RCV004576791 RCV004576792 RCV004576794 RCV004576795 RCV004576796 RCV004585201 RCV004586411 RCV005033942 RCV003463817 RCV000665566 RCV003476172 RCV000984190 RCV000674058 RCV000664588 RCV000665940 RCV000503934 RCV000500923 RCV000853232 RCV000987774 RCV002287894 RCV003470661 RCV003470798 RCV004569087 RCV003470795 RCV005034126 RCV000984278 RCV000984281 RCV002227483 RCV000672881 RCV000454149 RCV000668522 RCV000666670 RCV000031898 RCV000031899 RCV000984279 RCV000984280 RCV000671034 RCV000668700 RCV000666830 RCV000668321 RCV000674135 RCV000669872 RCV000667925 RCV000671981 RCV000672465 RCV000668352 RCV000671265 RCV000666767 RCV000666391 RCV000666437 RCV000666889 RCV000674576 RCV000666862 RCV000665939 RCV000667356 RCV000669044 RCV000673285 RCV000667526 RCV000673459 RCV000664685 RCV000669991 RCV000666723 RCV000668996 RCV000667525 RCV000668141 RCV000673365 RCV000673397 RCV000673568 RCV000672488 RCV000670226 RCV000665168 RCV000666604 RCV000673723 RCV000671972 RCV000665857 RCV000674687 RCV000674609 RCV000670249 RCV000671554 RCV000673268 RCV000674842 RCV000674405 RCV000668325 RCV000666062 RCV000668156 RCV000669605 RCV000665399 RCV000671390 RCV000672011 RCV001810478 RCV000672911 RCV000666010 RCV000672301 RCV005034289 RCV003465646 RCV000754731 RCV004569427 RCV000761500 RCV001263913 RCV002249477 RCV005047035 RCV000785954 RCV005253124 RCV003467484 RCV005860157 RCV005036212 RCV001264222 RCV005047069 RCV003461293 RCV004569797 RCV000985076 RCV000987768 RCV000987770 RCV000987771 RCV000987772 RCV000987773 RCV000987775 RCV001263637 RCV004569845 RCV002481815 RCV005036326 RCV005866772 RCV004570502 RCV005036477 RCV005040023 RCV003469386 RCV003469383 RCV002497794 RCV003469422 RCV003469444 RCV001263618 RCV001263619 RCV001263620 RCV001263621 RCV001263622 RCV001263906 RCV001263907 RCV001263908 RCV001263909 RCV001263910 RCV001263911 RCV001263912 RCV001264073 RCV001264074 RCV001264075 RCV001264076 RCV001264077 RCV001264078 RCV001264079 RCV001264080 RCV001264199 RCV001264200 RCV001264201 RCV001264202 RCV001264203 RCV001264204 RCV001264205 RCV001264206 RCV001263631 RCV001263632 RCV001263633 RCV001263634 RCV001263635 RCV001263636 RCV001263638 RCV001263922 RCV001263923 RCV001263924 RCV001263925 RCV001263926 RCV001263927 RCV001263928 RCV001263929 RCV001264089 RCV001264090 RCV001264091 RCV001264092 RCV001264093 RCV001264094 RCV001264095 RCV001264096 RCV001264215 RCV001264216 RCV001264217 RCV001264218 RCV001264219 RCV001264220 RCV001264221 RCV001263647 RCV001263648 RCV001263649 RCV001263650 RCV001263651 RCV001263652 RCV001263653 RCV001263654 RCV001264804 RCV001269412 RCV001290965 RCV003466973 RCV002498383 RCV000176160 RCV000984277 RCV000176719 RCV000177827 RCV000177968 RCV000178452 RCV000178685 RCV003466974 RCV004566946
Muscular dystrophy, congenital, merosin deficient or partially deficient	Pathogenic	rs1554269966	RCV004527387
Muscular dystrophy, limb-girdle, autosomal recessive 23	Likely pathogenic; Pathogenic	rs1276300668, rs1779406142, rs1222620175, rs1424455269, rs867012156, rs2114697790, rs2114451064, rs2482428612, rs2482415014, rs727503992, rs2533538365, rs2482736672, rs2533298096, rs2482439796, rs780496890, rs2482605485, rs2533539208, rs2482736603, rs2482308531, rs2533419466, rs2533301982, rs2482584694, rs2482399673, rs1223081122, rs2482129645, rs1190231274, rs2482729637, rs781772588, rs2533477734, rs2482776338, rs2482670548, rs2482251715, rs2482415558, rs2482417558, rs2482130041, rs2482439771, rs1222759165, rs2114761115, rs2533298429, rs2482690956, rs2482308349, rs2482532201, rs2533549852, rs2533443773, rs2482427968, rs766296358, rs2482400442, rs2482640047, rs2482776508, rs2533443816, rs2533477868, rs2482626823, rs2482628114, rs2482210497, rs2533563070, rs2482605715, rs1668597244, rs1583169005, rs1773276850, rs2482251798, rs1231027193, rs2482427954, rs2482348774, rs2114357233, rs2533352412, rs765714277, rs2533537963, rs2482625026, rs2482252172, rs2533441711, rs2533477745, rs2482409857, rs2533441661, rs2482559726, rs2533419284, rs2533549889, rs2482165307, rs2482194191, rs2482440163, rs2482210063, rs2482476408, rs2533490596, rs2482767452, rs2533506263, rs2533386033, rs2114834489, rs2114795375, rs2482334983, rs2482725233, rs2482280381, rs2482627236, rs2533443583, rs2533386141, rs1441766008, rs2533385613, rs2533416629, rs2482308298, rs1330890210, rs2482776118, rs2482767348, rs1485209355, rs200923373, rs794727594, rs771046502, rs766920075, rs773209126, rs2533535442, rs2482334733, rs1775302275, rs746785436, rs746201268, rs747349942, rs886039541, rs886041297, rs750220830, rs770617208, rs756854513, rs758775001, rs754600708, rs1276391947, rs2533416225, rs121913571, rs121913572, rs121913575, rs121913576, rs2533441401, rs779116918, rs2482417853, rs1057518119, rs200288072, rs770084568, rs1064797040, rs762806915, rs1554269966, rs781376927, rs1028599119, rs1554269891, rs1374568851, rs369776766, rs374403765, rs750731624, rs202247791, rs202247790, rs1554227092, rs775676341, rs759555791, rs757435241, rs749522728, rs1441933780, rs1326401124, rs1554234163, rs774051471, rs1131691660, rs993196576, rs145420388, rs1480934961, rs1554319117, rs945091158, rs775278003, rs1262029350, rs1363017615, rs200669208, rs1562281922, rs1562273395, rs1562497781, rs1562200866, rs1562451730, rs191912891, rs1415944134, rs1562581261, rs1583845651, rs1583149141, rs143343647, rs1583790201, rs767841898, rs1583591577, rs778539477, rs746844753, rs1185229314, rs1392196900, rs1583447808, rs1433071073, rs1776950897, rs1785973861, rs1781395670, rs1186050632, rs749566145, rs1231305572, rs1042843028, rs1775300950, rs1008335405, rs1775311864, rs1775313883, rs1775315900, rs1778273068, rs781316719, rs1778283565, rs1778991422, rs1436470033, rs1779703136, rs1780700010, rs1781455687, rs1781592001, rs1781606569, rs1786068382, rs1786068836, rs1786301728, rs1786309995, rs1787059737, rs1787862380, rs1789386860, rs897845923, rs1789395190, rs1789398455, rs1789399141, rs1789399872, rs1773282962, rs1773283278, rs1187391940, rs752094219, rs1773502803, rs944013929, rs1774323015, rs1383756739, rs1774465781, rs1774541313, rs1774908660, rs1774908820, rs1776319116, rs1776730034, rs1776953529, rs1776953853, rs917205971, rs1247084547, rs762342110, rs373997222, rs1778794887, rs1779318396, rs1779323338, rs1165626901, rs1462522184, rs1781398399, rs1782086229, rs1782333085, rs1782761474, rs1783482812, rs776104105, rs1377818460, rs1784882494, rs1784888496, rs1784919273, rs1463264889, rs1034133545, rs398123367, rs398123368, rs398123372, rs398123373, rs398123377, rs398123378, rs398123383, rs398123390	RCV005038196 RCV003387540 RCV003136225 RCV005031971 RCV005032197 RCV005032199 RCV002259559 RCV002288291 RCV002289019 RCV005031663 RCV002306467 RCV002306481 RCV002306530 RCV002306588 RCV002306631 RCV002306634 RCV002306647 RCV002306649 RCV002306667 RCV002306688 RCV002306711 RCV002306712 RCV002306737 RCV002306747 RCV002306749 RCV002309612 RCV002309614 RCV002309622 RCV002309634 RCV002309693 RCV002309716 RCV002309742 RCV002309817 RCV002309843 RCV002309902 RCV002309993 RCV002310021 RCV002310040 RCV002307927 RCV002307997 RCV002308113 RCV002308207 RCV002308285 RCV002308292 RCV002308332 RCV002308343 RCV002308353 RCV002309071 RCV002309143 RCV002309148 RCV002309168 RCV002309176 RCV002309222 RCV002309264 RCV002309292 RCV002309295 RCV002309332 RCV002309340 RCV002309372 RCV002309376 RCV002309408 RCV002309419 RCV002309454 RCV002309458 RCV002306847 RCV002306867 RCV002306906 RCV002306911 RCV002306925 RCV002306964 RCV002306969 RCV002307002 RCV002307024 RCV002307027 RCV002307092 RCV002307098 RCV002307101 RCV002307102 RCV002307118 RCV002307155 RCV002307164 RCV002307189 RCV002307217 RCV002307296 RCV002307299 RCV002307318 RCV002310069 RCV002310084 RCV002310168 RCV002310224 RCV002310233 RCV002310249 RCV002310286 RCV002310291 RCV002310311 RCV002310330 RCV002310432 RCV002310477 RCV002310546 RCV002310569 RCV002466827 RCV001375997 RCV005042383 RCV002478589 RCV005031713 RCV004799201 RCV003153053 RCV003159296 RCV004594683 RCV004594684 RCV005031839 RCV003229588 RCV004796140 RCV002503972 RCV005031845 RCV003152703 RCV005031859 RCV000763554 RCV005036753 RCV005036812 RCV005036847 RCV005042055 RCV000763556 RCV005357127 RCV002476971 RCV005038601 RCV004576142 RCV004577247 RCV005033942 RCV005044638 RCV005034021 RCV001823143 RCV000763555 RCV000985057 RCV005044769 RCV005398868 RCV005034126 RCV005034125 RCV002227483 RCV005357620 RCV002483506 RCV003137547 RCV005031466 RCV002499162 RCV005034254 RCV001810470 RCV005046864 RCV000763557 RCV005034271 RCV005034232 RCV000991376 RCV005046904 RCV005034256 RCV002477479 RCV005034243 RCV002499190 RCV005034280 RCV005034253 RCV005034262 RCV001810478 RCV005034268 RCV005034239 RCV005034289 RCV000709617 RCV000709618 RCV000709619 RCV005047018 RCV001263913 RCV005036107 RCV005047035 RCV000789024 RCV005253124 RCV005036212 RCV001264222 RCV005047069 RCV004794465 RCV000850248 RCV003338889 RCV001813808 RCV003141908 RCV001263637 RCV002481815 RCV002468617 RCV005036326 RCV005036477 RCV005040023 RCV002497794 RCV001263618 RCV001263619 RCV001263620 RCV001263621 RCV001263622 RCV001263906 RCV001263907 RCV001263908 RCV001263909 RCV001263910 RCV001263911 RCV001263912 RCV001264073 RCV001264074 RCV001264075 RCV001264076 RCV001264077 RCV001264078 RCV001264079 RCV001264080 RCV001264199 RCV001264200 RCV001264201 RCV001264202 RCV001264203 RCV001264204 RCV001264205 RCV001264206 RCV001263631 RCV001263632 RCV001263633 RCV001263634 RCV001263635 RCV001263636 RCV001263638 RCV001263922 RCV001263923 RCV001263924 RCV001263925 RCV001263926 RCV001263927 RCV001263928 RCV001263929 RCV001264089 RCV001264090 RCV001264091 RCV001264092 RCV001264093 RCV001264094 RCV001264095 RCV001264096 RCV001264215 RCV001264216 RCV001264217 RCV001264218 RCV001264219 RCV001264220 RCV001264221 RCV001263647 RCV001263648 RCV001263649 RCV001263650 RCV001263651 RCV001263652 RCV001263653 RCV001263654 RCV001810421 RCV002498383 RCV005042193 RCV000763553 RCV005042194 RCV005042195 RCV005867854 RCV005867855
Myalgia	Pathogenic	rs398123383	RCV000626687
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs749522728	RCV005901445
Primary dilated cardiomyopathy	Likely pathogenic	rs2114834553	RCV001594454
Proximal muscle weakness	Likely pathogenic	rs2114450848	RCV002223148
Qualitative or quantitative defects of merosin	Pathogenic	rs922640025, rs121913569	RCV003225984 RCV003225924
See cases	Likely pathogenic	rs2114697790	RCV002252937

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs2482252180, rs1416941993	-
Acute myeloid leukemia	Benign	rs55776770	RCV005891264
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs117781224	RCV005886223
Cervical cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs201375881, rs117781224	RCV005888295 RCV005886224
Cholangiocarcinoma	Benign	rs55776770	RCV005891274
Distal myopathy	Uncertain significance	rs748758336	RCV005626168
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2533441537	RCV004557770
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	rs201375881, rs76902576, rs17741922, rs398123374	RCV005888294 RCV005905800 RCV005886222 RCV005867852
Familial pancreatic carcinoma	Benign	rs55776770	RCV005891269
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	rs773658276	RCV003319243
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs35065563, rs117422805, rs34505698, rs56035053, rs144155507, rs182064878, rs146490004, rs778106503, rs150361703, rs151049890, rs182762857, rs1778647170, rs1787583332, rs767444868, rs756669467, rs1784913484, rs377089476, rs141363186	RCV001252053 RCV001252050 RCV001252051 RCV001252049 RCV005625461 RCV005625504 RCV001252052 RCV005626144 RCV001252040 RCV001252046 RCV001252045 RCV001252041 RCV001252048 RCV001252042 RCV001252047 RCV001252044 RCV001252043 RCV005625272
Limb-girdle muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs56035053, rs752075358, rs566302197	RCV005621903 RCV005621971 RCV005625696
Lung cancer	Benign; Likely benign	rs117781224	RCV005886228
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs55776770, rs141235562, rs398123374	RCV005891265 RCV005898457 RCV005867853
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs147077184	RCV005889931
Muscular dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs2114653633, rs2533538654, rs2533599141, rs138018456, rs145842163	RCV001357315 RCV002508984 RCV002508985 RCV003229540 RCV001356828
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Benign	rs772192888, rs55776770	RCV005928354 RCV005891266
Ovarian cancer	Conflicting classifications of pathogenicity; Benign	rs201375881, rs55776770	RCV005888296 RCV005891267
Pancreatic adenocarcinoma	Benign	rs55776770	RCV005891268
Polymicrogyria	Uncertain significance; Conflicting classifications of pathogenicity	rs374201203, rs56173620	RCV000656109 RCV000656110
Rare genetic intellectual disability	Conflicting classifications of pathogenicity	rs370181941	RCV001257032
Sarcoma	Likely benign; Benign	rs77216422, rs55776770, rs117781224	RCV005911475 RCV005891270 RCV005886225
Schizophrenia	Uncertain significance	rs2533559415	RCV002463544
Thymoma	Benign	rs55776770	RCV005891273
Uterine carcinosarcoma	Benign; Likely benign	rs55776770, rs117781224	RCV005891272 RCV005886227
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	rs55776770, rs182064878	RCV005891275 RCV005895657
Uveal melanoma	Uncertain significance	rs182064878	RCV005895656

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	35238419
Allanson Pantzar McLeod syndrome	Associate	29376585
Arrhythmogenic Right Ventricular Dysplasia	Associate	36535090
Brain Diseases	Associate	37182895
Brain Neoplasms	Inhibit	33878734
Breast Neoplasms	Associate	26432421, 30305115, 32526247, 33500458
Carcinoma Hepatocellular	Associate	25159915, 33878734
Carcinoma Neuroendocrine	Associate	16507913
Cardiomyopathy Dilated	Associate	32904964, 35728000
Central Nervous System Vascular Malformations	Associate	37182895
Charcot Marie Tooth Disease	Associate	25648254
Chronic Periodontitis	Associate	24347629
Colonic Neoplasms	Associate	36518255
Craniometaphyseal Dysplasia Autosomal Dominant	Associate	32904964, 33882917, 37318662, 38296890, 9585610
Death	Associate	27390862
Depressive Disorder Major	Associate	37511534
Diabetes Mellitus	Stimulate	33995275
Down Syndrome	Associate	36833411
Dysplastic Nevus Syndrome	Associate	10576667
Ependymoma	Associate	23280793, 27550150
Epilepsy	Associate	32904964, 37182895
Genetic Diseases Inborn	Inhibit	10677302
Glaucoma	Associate	36833422
Glaucoma Angle Closure	Associate	36833422
Glioblastoma	Associate	23280793
Glomerulosclerosis Focal Segmental	Associate	34565340
Heart Diseases	Associate	24534542
Hemangioblastoma	Associate	28742274
Heredodegenerative Disorders Nervous System	Associate	34103343
Immunoglobulin G4 Related Disease	Associate	36373293, 37182895
Immunologic Deficiency Syndromes	Associate	11592034
Inflammatory Breast Neoplasms	Associate	30086764
Infratentorial Neoplasms	Associate	27550150
Intellectual Disability	Associate	37182895
Kidney Diseases	Associate	36408280
Leprosy	Associate	12100448
Leprosy Tuberculoid	Associate	12100448
Leukodystrophy Metachromatic	Associate	29376585
Leukoencephalopathies	Associate	29225264, 29376585
Limb girdle muscular dystrophy autosomal recessive	Associate	34281576
Lymphoma	Associate	34166375
Malformations of Cortical Development	Associate	32570172, 37182895
Medullary Sponge Kidney	Associate	27914711, 28087010
Meningeal Carcinomatosis	Associate	10576667
Migraine Disorders	Associate	32904964
Multiple Sclerosis	Associate	35868801
Muscle Hypotonia	Associate	27353517
Muscle Weakness	Associate	32904964, 37182895
Muscular Dystrophies	Associate	11592034, 25307854, 25962468, 28087121, 29225264, 29376585, 31309178, 32213190, 32904964, 32936536, 33882917, 34281576, 34384384, 35731920, 36334577, 36373293, 37005889, 37182895, 37318662, 9541105, 9610800
Muscular Dystrophies	Inhibit	35868801
Muscular Dystrophies Limb Girdle	Associate	27708273, 32904964, 34281576, 37688281
Muscular Dystrophy Congenital 1B	Associate	11592034
Muscular Dystrophy Congenital due to Partial LAMA2 Deficiency	Associate	34281576, 34384384, 34509921, 36334577, 39941024
Muscular dystrophy congenital merosin negative	Associate	11592034, 18516331, 28182637, 29225264, 29707938, 31309178, 32904964, 33882917, 34528292, 36334577, 36833411, 9541105, 9585610
Muscular dystrophy congenital with central nervous system involvement	Associate	29376585, 37182895
Muscular Dystrophy Duchenne	Associate	9610800
Muscular dystrophy limb girdle type 1A	Associate	24534542, 28367954, 32936536
Muscular Dystrophy Limb Girdle Type 2I	Inhibit	30003095
Myopia	Associate	26984843, 27611182, 31069276, 36395078
Myotonic Dystrophy	Associate	34509921
Neoplasm Metastasis	Associate	16507913
Neoplasms	Associate	16507913, 23280793, 25159915, 32526247, 34512203
Neoplasms	Inhibit	26432421
Neuromuscular Diseases	Associate	21896784, 25648254, 32154989
Ovarian Neoplasms	Associate	34512203
Pathological Conditions Anatomical	Associate	36833411
Periodontitis	Associate	35179257
Peripheral Nervous System Diseases	Associate	12100448
Pituitary Neoplasms	Associate	36686480
Pneumonia	Associate	34281576
Refractive Errors	Associate	32227305, 35220419
Retinal Dystrophies	Associate	37182895
Rhabdomyosarcoma Alveolar	Associate	37296184
Schizophrenia	Associate	37511534
Seizures	Associate	34281576
Sjogren's Syndrome	Associate	15593200
Small Cell Lung Carcinoma	Associate	16507913
Thrombosis	Inhibit	33878734
Urinary Bladder Neoplasms	Associate	36357874, 37872487
Walker Warburg Syndrome	Associate	11592034