COL6A2 (collagen type VI alpha 2 chain)

Gene

• Entrez ID: 1292
• Gene name: Collagen type VI alpha 2 chain
• Gene symbol: COL6A2
• Synonyms: BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been sh

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35887009	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs61735828	G>A,C	Likely-benign, uncertain-significance, benign, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs61735832	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs61735833	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs75581470	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs111341650	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs113002150	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs113525292	T>C,G	Pathogenic	Splice donor variant
rs113828929	G>A,C	Pathogenic	Splice donor variant
rs117725825	C>G,T	Pathogenic, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs121912940	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121912942	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs138371054	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs138674440	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs138948335	G>A,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs139552940	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs139571947	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs140404854	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs140419176	C>A,G,T	Benign-likely-benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant
rs140790797	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs140890046	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs140929054	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs141021828	G>A,C,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs141233891	A>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs141257132	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs142021066	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs142709940	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs143338050	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs143569686	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant
rs143583433	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs143749884	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs144334894	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs144475977	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs145352569	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs145500808	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs145785230	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs146311719	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs146323303	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs146420786	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs147199350	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs148178994	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs148249892	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs148423929	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs149077114	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs149480738	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs149845431	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs150098077	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs150168522	G>A,C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs150253422	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs150716220	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant
rs150877061	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs192476178	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs199499499	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs199501232	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs199513044	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199929757	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200585528	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200710788	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200797233	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201426778	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs201635208	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs201854898	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs201879417	C>A,G,T	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs202094835	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267606747	T>C	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs267606748	G>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs267606749	G>A	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs267606750	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs367658663	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs368725753	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs369756029	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs370008311	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373072443	C>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs373369963	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373635709	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs373813975	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs374336669	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs374669775	C>A,T	Pathogenic, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs374673302	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs374795477	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs375288629	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376378709	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376880198	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs377195134	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
rs377476546	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs387906607	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906608	C>A,G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs387906609	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs387906610	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs397515333	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398122821	TCATCG>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs398123645	A>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs398123646	G>A	Pathogenic	Splice acceptor variant
rs531713008	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs531816975	C>G,T	Likely-pathogenic, likely-benign	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs535007570	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs547648292	G>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs563505047	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs566966690	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs578127995	A>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs727502827	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs727502828	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs727502832	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs727503883	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs746012569	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs747734639	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs747900252	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-benign	Intron variant
rs748035948	G>A,T	Pathogenic	Intron variant, splice acceptor variant
rs748047522	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs748215430	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs749593004	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs749974929	A>G	Pathogenic	Splice acceptor variant
rs750444649	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs750842859	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs751192681	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs751409618	G>A,C	Pathogenic	Splice acceptor variant
rs751987553	C>A,T	Likely-pathogenic	Synonymous variant, intron variant, coding sequence variant, stop gained
rs752730608	A>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs755147431	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs759388890	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs762583937	CAGTGC>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs764014106	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs765430501	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs766157503	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs766840536	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs768836349	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs770842374	T>C	Pathogenic, likely-pathogenic	Splice donor variant
rs773143298	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs773686174	C>G,T	Pathogenic-likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs774521989	C>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs774805224	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs778129335	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs786205642	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794727061	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794727419	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794727715	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs794727788	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs794727855	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797045478	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs863224861	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs878854362	G>A,T	Uncertain-significance, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs886039905	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041439	->C	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886041447	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs886042332	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs886042541	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886042705	G>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886042745	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs886042943	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886043164	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886043187	G>A,C	Pathogenic	Splice donor variant
rs886043270	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886043323	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886043554	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886044023	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886044088	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886044140	T>-	Pathogenic	Splice donor variant
rs886044215	G>-	Pathogenic-likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs886044261	G>A,C	Pathogenic	Splice donor variant
rs886044265	G>A	Likely-pathogenic	Splice acceptor variant
rs886044398	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886044399	A>G	Pathogenic	Splice acceptor variant
rs886044466	A>C	Pathogenic	Splice acceptor variant
rs886044484	CTTTCTTCCA>-	Pathogenic	Intron variant, splice acceptor variant
rs886044526	G>A	Pathogenic	Splice donor variant
rs1012567148	G>A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1057517988	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs1057518925	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1057520717	G>A	Pathogenic	Splice donor variant
rs1064793394	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1064795685	CG>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1331260332	G>A	Pathogenic	Splice acceptor variant
rs1375040481	ACGAC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1413628703	->CA	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1427750922	T>C	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1487638242	G>C,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555871390	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555872143	GTTTCAGTGCT>-	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555872200	CAGAAGGTAAGA>-	Pathogenic	Splice donor variant, non coding transcript variant, intron variant, coding sequence variant
rs1555872819	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555872873	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555872965	G>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs1555873084	A>G	Pathogenic	Splice acceptor variant
rs1555873353	CCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT>-	Likely-pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555873356	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1555873358	G>T	Pathogenic	Splice acceptor variant
rs1555873507	G>-	Likely-pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555873508	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555873698	->AAAAGACGTGAGGCTGATTCTGCAAACCCTTCCAGGG	Likely-pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1555877252	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555877258	->CTGGCCCGGAGGGACG	Conflicting-interpretations-of-pathogenicity	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555877282	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1568928804	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1568929639	CAG>AA	Likely-pathogenic	Intron variant, splice acceptor variant
rs1568930426	GA>TT	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1568931397	A>G	Pathogenic	Intron variant
rs1601221868	G>C	Pathogenic	Splice acceptor variant
rs1601231322	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1601232289	A>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022605	hsa-miR-124-3p	Microarray	18668037
MIRT047536	hsa-miR-10a-5p	CLASH	23622248
MIRT047410	hsa-miR-10b-5p	CLASH	23622248
MIRT052889	hsa-miR-3928-3p	CLASH	23622248
MIRT054732	hsa-miR-29c-3p	Microarray, qRT-PCR	24590289
MIRT733135	hsa-miR-184	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32581558
MIRT756088	hsa-miR-202-3p	Western blotting, qRT-PCR	37226011
MIRT903136	hsa-miR-185	CLIP-seq
MIRT903137	hsa-miR-28-5p	CLIP-seq
MIRT903138	hsa-miR-3135b	CLIP-seq
MIRT903139	hsa-miR-3139	CLIP-seq
MIRT903140	hsa-miR-3689a-3p	CLIP-seq
MIRT903141	hsa-miR-3689c	CLIP-seq
MIRT903142	hsa-miR-4306	CLIP-seq
MIRT903143	hsa-miR-4487	CLIP-seq
MIRT903144	hsa-miR-4644	CLIP-seq
MIRT903145	hsa-miR-4728-5p	CLIP-seq
MIRT903146	hsa-miR-708	CLIP-seq
MIRT903147	hsa-miR-765	CLIP-seq
MIRT903136	hsa-miR-185	CLIP-seq
MIRT903148	hsa-miR-3150b-3p	CLIP-seq
MIRT903142	hsa-miR-4306	CLIP-seq
MIRT903144	hsa-miR-4644	CLIP-seq
MIRT903149	hsa-miR-4784	CLIP-seq
MIRT903150	hsa-miR-7	CLIP-seq
MIRT903147	hsa-miR-765	CLIP-seq
MIRT903136	hsa-miR-185	CLIP-seq
MIRT1547326	hsa-miR-1915	CLIP-seq
MIRT903137	hsa-miR-28-5p	CLIP-seq
MIRT1547327	hsa-miR-3127-5p	CLIP-seq
MIRT903138	hsa-miR-3135b	CLIP-seq
MIRT903139	hsa-miR-3139	CLIP-seq
MIRT1547328	hsa-miR-3158-3p	CLIP-seq
MIRT903140	hsa-miR-3689a-3p	CLIP-seq
MIRT903141	hsa-miR-3689c	CLIP-seq
MIRT1547329	hsa-miR-3918	CLIP-seq
MIRT903142	hsa-miR-4306	CLIP-seq
MIRT903143	hsa-miR-4487	CLIP-seq
MIRT903144	hsa-miR-4644	CLIP-seq
MIRT1547330	hsa-miR-4685-5p	CLIP-seq
MIRT903145	hsa-miR-4728-5p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT903146	hsa-miR-708	CLIP-seq
MIRT903147	hsa-miR-765	CLIP-seq
MIRT1967787	hsa-miR-3663-3p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT2203635	hsa-miR-1183	CLIP-seq
MIRT2203636	hsa-miR-1225-3p	CLIP-seq
MIRT2203637	hsa-miR-3137	CLIP-seq
MIRT2203638	hsa-miR-3169	CLIP-seq
MIRT2203639	hsa-miR-3202	CLIP-seq
MIRT2203640	hsa-miR-331-3p	CLIP-seq
MIRT2203641	hsa-miR-4308	CLIP-seq
MIRT2203642	hsa-miR-4533	CLIP-seq
MIRT2386348	hsa-miR-4747-5p	CLIP-seq
MIRT2427848	hsa-miR-1205	CLIP-seq
MIRT2427849	hsa-miR-1266	CLIP-seq
MIRT2427850	hsa-miR-1909	CLIP-seq
MIRT2427851	hsa-miR-29a	CLIP-seq
MIRT2427852	hsa-miR-29b	CLIP-seq
MIRT2427853	hsa-miR-29c	CLIP-seq
MIRT1547327	hsa-miR-3127-5p	CLIP-seq
MIRT1547328	hsa-miR-3158-3p	CLIP-seq
MIRT2427854	hsa-miR-3189-3p	CLIP-seq
MIRT2427855	hsa-miR-3649	CLIP-seq
MIRT2427856	hsa-miR-3670	CLIP-seq
MIRT1547329	hsa-miR-3918	CLIP-seq
MIRT2427857	hsa-miR-4284	CLIP-seq
MIRT2427858	hsa-miR-4417	CLIP-seq
MIRT2427859	hsa-miR-4433	CLIP-seq
MIRT2427860	hsa-miR-4437	CLIP-seq
MIRT2427861	hsa-miR-4459	CLIP-seq
MIRT2427862	hsa-miR-450b-3p	CLIP-seq
MIRT2427863	hsa-miR-4518	CLIP-seq
MIRT2427864	hsa-miR-4640-5p	CLIP-seq
MIRT2427865	hsa-miR-4648	CLIP-seq
MIRT2427866	hsa-miR-4651	CLIP-seq
MIRT2427867	hsa-miR-4654	CLIP-seq
MIRT2427868	hsa-miR-4674	CLIP-seq
MIRT2427869	hsa-miR-4716-3p	CLIP-seq
MIRT2427870	hsa-miR-4723-5p	CLIP-seq
MIRT2427871	hsa-miR-4726-5p	CLIP-seq
MIRT2427872	hsa-miR-4768-3p	CLIP-seq
MIRT2427873	hsa-miR-4769-5p	CLIP-seq
MIRT2427874	hsa-miR-4804-5p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT2427875	hsa-miR-541	CLIP-seq
MIRT2427876	hsa-miR-604	CLIP-seq
MIRT2427877	hsa-miR-608	CLIP-seq
MIRT2427878	hsa-miR-647	CLIP-seq
MIRT2427879	hsa-miR-654-5p	CLIP-seq
MIRT2427880	hsa-miR-767-5p	CLIP-seq
MIRT2427881	hsa-miR-769-3p	CLIP-seq
MIRT2427848	hsa-miR-1205	CLIP-seq
MIRT2436391	hsa-miR-1250	CLIP-seq
MIRT2427849	hsa-miR-1266	CLIP-seq
MIRT2436392	hsa-miR-1321	CLIP-seq
MIRT903136	hsa-miR-185	CLIP-seq
MIRT2427850	hsa-miR-1909	CLIP-seq
MIRT1547326	hsa-miR-1915	CLIP-seq
MIRT2436393	hsa-miR-2861	CLIP-seq
MIRT2427851	hsa-miR-29a	CLIP-seq
MIRT2427852	hsa-miR-29b	CLIP-seq
MIRT2427853	hsa-miR-29c	CLIP-seq
MIRT903138	hsa-miR-3135b	CLIP-seq
MIRT2436394	hsa-miR-3150a-3p	CLIP-seq
MIRT1547328	hsa-miR-3158-3p	CLIP-seq
MIRT2436395	hsa-miR-3175	CLIP-seq
MIRT2427854	hsa-miR-3189-3p	CLIP-seq
MIRT2427855	hsa-miR-3649	CLIP-seq
MIRT2436396	hsa-miR-3661	CLIP-seq
MIRT2427856	hsa-miR-3670	CLIP-seq
MIRT2436397	hsa-miR-4283	CLIP-seq
MIRT2427857	hsa-miR-4284	CLIP-seq
MIRT903142	hsa-miR-4306	CLIP-seq
MIRT2427858	hsa-miR-4417	CLIP-seq
MIRT2436398	hsa-miR-4419a	CLIP-seq
MIRT2427859	hsa-miR-4433	CLIP-seq
MIRT2427860	hsa-miR-4437	CLIP-seq
MIRT2427861	hsa-miR-4459	CLIP-seq
MIRT2436399	hsa-miR-4468	CLIP-seq
MIRT2436400	hsa-miR-4486	CLIP-seq
MIRT903143	hsa-miR-4487	CLIP-seq
MIRT2436401	hsa-miR-4489	CLIP-seq
MIRT2436402	hsa-miR-4492	CLIP-seq
MIRT2436403	hsa-miR-4498	CLIP-seq
MIRT2436404	hsa-miR-4505	CLIP-seq
MIRT2427862	hsa-miR-450b-3p	CLIP-seq
MIRT2436405	hsa-miR-4510	CLIP-seq
MIRT2436406	hsa-miR-4512	CLIP-seq
MIRT2427863	hsa-miR-4518	CLIP-seq
MIRT2427864	hsa-miR-4640-5p	CLIP-seq
MIRT903144	hsa-miR-4644	CLIP-seq
MIRT2427865	hsa-miR-4648	CLIP-seq
MIRT2427866	hsa-miR-4651	CLIP-seq
MIRT2427867	hsa-miR-4654	CLIP-seq
MIRT2436407	hsa-miR-4667-5p	CLIP-seq
MIRT2427868	hsa-miR-4674	CLIP-seq
MIRT1547330	hsa-miR-4685-5p	CLIP-seq
MIRT2436408	hsa-miR-4700-5p	CLIP-seq
MIRT2436409	hsa-miR-4706	CLIP-seq
MIRT2427869	hsa-miR-4716-3p	CLIP-seq
MIRT2427870	hsa-miR-4723-5p	CLIP-seq
MIRT2427871	hsa-miR-4726-5p	CLIP-seq
MIRT903145	hsa-miR-4728-5p	CLIP-seq
MIRT2436410	hsa-miR-4734	CLIP-seq
MIRT2436411	hsa-miR-4739	CLIP-seq
MIRT2436412	hsa-miR-4746-3p	CLIP-seq
MIRT2436413	hsa-miR-4749-5p	CLIP-seq
MIRT2436414	hsa-miR-4756-5p	CLIP-seq
MIRT2427872	hsa-miR-4768-3p	CLIP-seq
MIRT2427873	hsa-miR-4769-5p	CLIP-seq
MIRT2427874	hsa-miR-4804-5p	CLIP-seq
MIRT2436415	hsa-miR-503	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT2427875	hsa-miR-541	CLIP-seq
MIRT2436416	hsa-miR-596	CLIP-seq
MIRT2427876	hsa-miR-604	CLIP-seq
MIRT2427877	hsa-miR-608	CLIP-seq
MIRT2436417	hsa-miR-631	CLIP-seq
MIRT2427878	hsa-miR-647	CLIP-seq
MIRT2427879	hsa-miR-654-5p	CLIP-seq
MIRT2436418	hsa-miR-658	CLIP-seq
MIRT2436419	hsa-miR-661	CLIP-seq
MIRT2436420	hsa-miR-744	CLIP-seq
MIRT2436421	hsa-miR-762	CLIP-seq
MIRT2427880	hsa-miR-767-5p	CLIP-seq
MIRT2427881	hsa-miR-769-3p	CLIP-seq
MIRT2436422	hsa-miR-769-5p	CLIP-seq
MIRT2436423	hsa-miR-939	CLIP-seq
MIRT2506694	hsa-miR-3176	CLIP-seq
MIRT2506695	hsa-miR-3180-5p	CLIP-seq
MIRT2506696	hsa-miR-3194-5p	CLIP-seq
MIRT2506697	hsa-miR-326	CLIP-seq
MIRT2506698	hsa-miR-330-5p	CLIP-seq
MIRT2506699	hsa-miR-3922-3p	CLIP-seq
MIRT2506700	hsa-miR-3943	CLIP-seq
MIRT2506701	hsa-miR-4292	CLIP-seq
MIRT2506702	hsa-miR-4323	CLIP-seq
MIRT2506703	hsa-miR-4646-5p	CLIP-seq
MIRT2386348	hsa-miR-4747-5p	CLIP-seq
MIRT2506704	hsa-miR-4757-5p	CLIP-seq
MIRT2506705	hsa-miR-4787-5p	CLIP-seq
MIRT2506706	hsa-miR-486-3p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq
MIRT2506694	hsa-miR-3176	CLIP-seq
MIRT2506695	hsa-miR-3180-5p	CLIP-seq
MIRT2506697	hsa-miR-326	CLIP-seq
MIRT2506698	hsa-miR-330-5p	CLIP-seq
MIRT2506699	hsa-miR-3922-3p	CLIP-seq
MIRT2506704	hsa-miR-4757-5p	CLIP-seq
MIRT1547331	hsa-miR-520a-5p	CLIP-seq
MIRT1547332	hsa-miR-525-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12812986
GO:0005518	Function	Collagen binding	IPI	18400749
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	18400749
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0032991	Component	Protein-containing complex	IPI	18400749
GO:0042383	Component	Sarcolemma	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28344315, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	IBA	21873635
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 120240
• HGNC: 2212
• e!Ensembl: ENSG00000142173

Protein

• UniProt ID: P12110
• Protein name: Collagen alpha-2(VI) chain
• Protein function: Collagen VI acts as a cell-binding protein.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	46 → 232	von Willebrand factor type A domain	Domain
  PF01391	Collagen	254 → 317	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	301 → 369	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	409 → 468	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	531 → 590	Collagen triple helix repeat (20 copies)	Repeat
  PF00092	VWA	615 → 798	von Willebrand factor type A domain	Domain
  PF00092	VWA	833 → 1011	von Willebrand factor type A domain	Domain

• Sequence:

  MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQ
  SPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIK
  NLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA
  REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKH
  EAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
  GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA
  GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSGAPGSPGVKGAKGGPGPRGPK
  GEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGAL
  GEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRG
  DFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
  TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRV
  GVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRR
  QKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKP
  QQVRNMTLFSDLVAEKFIDDMEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDG
  SERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTA
  IHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHES
  AHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC

• Sequence length: 1019

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Protein digestion and absorption
Human papillomavirus infection

Reactome:

Collagen degradation
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	18784066
Bethlem myopathy	BETHLEM MYOPATHY 1, BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE, Bethlem myopathy	rs121434553, rs121434555, rs139260335, rs796052093, rs796052094, rs1768488927	17785673, 17886299, 19884007, 27854218, 24038877, 8218237, 20976770, 11865138, 7695699, 23326386, 19344236, 15689448, 19949035, 19309692, 21520333, 25380242, 20576434, 25533456, 25535305, 18366090, 24801232, 21280092, 19564581, 8782832
Congenital muscular dystrophy	Congenital muscular dystrophy (disorder), Congenital muscular dystrophy, Ullrich type	rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117, rs387907069, rs786205118, rs267607600, rs61672878, rs57629361, rs61444459, rs60872029, rs587780362, rs141554661, rs864309525, rs371751084, rs914395925, rs1060505038, rs766046008, rs1060505039, rs750781027, rs761612652, rs1060505040, rs749383757, rs776548207, rs1554269966, rs373091820, rs1553261891, rs1474512248, rs1333100080, rs1246940477, rs1554320168, rs372328960, rs1217190017, rs750756707, rs1555894289, rs1296761337, rs1562530132, rs1569054508, rs1565622052, rs1415944134, rs1565620275, rs752436924, rs1569054086, rs1583149141, rs17854600, rs757369551, rs755438542, rs1872274494, rs1874440714
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Myosclerosis	Myosclerosis, Myosclerosis, Autosomal Recessive	rs121912942, rs751987553	18852439, 11381124
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ullrich congenital muscular dystrophy	Ullrich congenital muscular dystrophy 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT	rs1601231322, rs748035948, rs1568931397, rs267606747, rs121912938, rs121912939, rs387906608, rs398122821, rs875989819, rs796052093, rs749974929, rs984314526, rs1582208315, rs1582196903	19564581, 18366090, 11381124, 15563506, 15689448

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Generalized amyotrophy, Proximal amyotrophy
Cardiovascular abnormalities	Cardiovascular Abnormalities
Congenital clubfoot	Congenital clubfoot
Congenital torticollis	Congenital torticollis
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		18852439, 25533456, 19949035, 20976770, 24038877, 23564457, 22426012, 25204870, 15689448, 11865138
Elbow flexion contracture	Flexion contracture - elbow
Esotropia	Esotropia
Facial paralysis	Facial paralysis
High palate	Byzanthine arch palate
Congenital hip dislocation	Hip Dislocation, Congenital
Micrognathism	Micrognathism
Motor delay	Clumsiness - motor delay
Osteoarthrosis deformans	Osteoarthrosis Deformans		18784066
Phrynoderma	Phrynoderma
Respiratory failure	Respiratory Failure
Thoracolumbar scoliosis	Thoracolumbar scoliosis