LZTR1 (leucine zipper like post translational regulator 1)

Gene

• Entrez ID: 8216
• Gene name: Leucine zipper like post translational regulator 1
• Gene symbol: LZTR1
• Synonyms (NCBI Gene): BTBD29, LZTR-1, NS10, NS2, SWNTS2
• Chromosome: 22
• Chromosome location: 22q11.21|22q11.1-q11.2
• Summary: This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140874089	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145594158	G>A	Likely-pathogenic	Splice donor variant
rs148677674	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs149850248	C>G,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs150419186	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, missense variant
rs189150283	C>T	Pathogenic	Coding sequence variant, stop gained
rs587777176	G>A	Pathogenic	Intron variant
rs587777177	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777178	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777179	CGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777180	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777613	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs752547717	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs753474547	TGAAGTGC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs755783378	GTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs761685529	C>T	Uncertain-significance, pathogenic	Intron variant
rs762834512	G>A	Pathogenic	Coding sequence variant, missense variant
rs767191322	G>A,C,T	Likely-pathogenic	Splice donor variant
rs770933647	G>A	Pathogenic	Coding sequence variant, stop gained
rs771885420	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs777243508	G>A	Pathogenic	Coding sequence variant, stop gained
rs780267761	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs781251567	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs781431741	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs797045165	C>T	Pathogenic	Missense variant, coding sequence variant
rs797045166	G>A	Pathogenic	Missense variant, coding sequence variant
rs869320686	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886041542	G>A,T	Likely-pathogenic	Splice donor variant
rs886041925	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1034395178	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057518336	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524046	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691862	->CCGCCAG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1158550690	A>C,G	Likely-pathogenic	Splice acceptor variant
rs1185411712	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1194536394	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1223430276	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1249726034	C>A,G	Pathogenic	Intron variant
rs1302923931	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1419091884	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1458682620	A>G	Likely-pathogenic	Splice acceptor variant
rs1459786357	T>A,C	Pathogenic	5 prime UTR variant
rs1460026299	AC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1469540056	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555927321	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555927544	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555927561	G>C	Likely-pathogenic	Splice donor variant
rs1555927611	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555927613	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555927827	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555928249	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569153870	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs1569154492	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1569154722	G>A	Pathogenic	Coding sequence variant, stop gained
rs1601717797	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1601718760	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1601722136	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1601723893	AA>TTGG	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046517	hsa-miR-15b-5p	CLASH	23622248
MIRT046517	hsa-miR-15b-5p	CLASH	23622248
MIRT037967	hsa-miR-505-5p	CLASH	23622248
MIRT650834	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT650833	hsa-miR-4267	HITS-CLIP	23824327
MIRT650832	hsa-miR-4780	HITS-CLIP	23824327
MIRT650831	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT650830	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT650829	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT650828	hsa-miR-4287	HITS-CLIP	23824327
MIRT650827	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT650826	hsa-miR-1976	HITS-CLIP	23824327
MIRT650825	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT650824	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT650823	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT650822	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT650821	hsa-miR-7977	HITS-CLIP	23824327
MIRT650820	hsa-miR-623	HITS-CLIP	23824327
MIRT650818	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT650819	hsa-miR-4279	HITS-CLIP	23824327
MIRT650817	hsa-miR-4325	HITS-CLIP	23824327
MIRT650834	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT650833	hsa-miR-4267	HITS-CLIP	23824327
MIRT650832	hsa-miR-4780	HITS-CLIP	23824327
MIRT650831	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT650830	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT650829	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT650828	hsa-miR-4287	HITS-CLIP	23824327
MIRT650827	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT650826	hsa-miR-1976	HITS-CLIP	23824327
MIRT650825	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT650824	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT650823	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT650822	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT650821	hsa-miR-7977	HITS-CLIP	23824327
MIRT650820	hsa-miR-623	HITS-CLIP	23824327
MIRT650818	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT650819	hsa-miR-4279	HITS-CLIP	23824327
MIRT650817	hsa-miR-4325	HITS-CLIP	23824327
MIRT1124406	hsa-miR-1827	CLIP-seq
MIRT1124407	hsa-miR-192	CLIP-seq
MIRT1124408	hsa-miR-215	CLIP-seq
MIRT1124409	hsa-miR-219-1-3p	CLIP-seq
MIRT1124410	hsa-miR-3136-3p	CLIP-seq
MIRT1124411	hsa-miR-3192	CLIP-seq
MIRT1124412	hsa-miR-3612	CLIP-seq
MIRT1124413	hsa-miR-3661	CLIP-seq
MIRT1124414	hsa-miR-4252	CLIP-seq
MIRT1124415	hsa-miR-4286	CLIP-seq
MIRT1124416	hsa-miR-4433	CLIP-seq
MIRT1124417	hsa-miR-4443	CLIP-seq
MIRT1124418	hsa-miR-4457	CLIP-seq
MIRT1124419	hsa-miR-4519	CLIP-seq
MIRT1124420	hsa-miR-4527	CLIP-seq
MIRT1124421	hsa-miR-4530	CLIP-seq
MIRT1124422	hsa-miR-4639-5p	CLIP-seq
MIRT1124423	hsa-miR-4667-5p	CLIP-seq
MIRT1124424	hsa-miR-4700-5p	CLIP-seq
MIRT1124425	hsa-miR-4717-5p	CLIP-seq
MIRT1124426	hsa-miR-4722-5p	CLIP-seq
MIRT1124427	hsa-miR-4726-3p	CLIP-seq
MIRT1124428	hsa-miR-4743	CLIP-seq
MIRT1124429	hsa-miR-4753-5p	CLIP-seq
MIRT1124430	hsa-miR-4786-3p	CLIP-seq
MIRT1124431	hsa-miR-513b	CLIP-seq
MIRT1124432	hsa-miR-631	CLIP-seq
MIRT1124433	hsa-miR-637	CLIP-seq
MIRT1124434	hsa-miR-650	CLIP-seq
MIRT1124435	hsa-miR-940	CLIP-seq
MIRT1124410	hsa-miR-3136-3p	CLIP-seq
MIRT1124411	hsa-miR-3192	CLIP-seq
MIRT1124413	hsa-miR-3661	CLIP-seq
MIRT2035155	hsa-miR-4420	CLIP-seq
MIRT2035156	hsa-miR-4652-5p	CLIP-seq
MIRT2035157	hsa-miR-4717-3p	CLIP-seq
MIRT1124427	hsa-miR-4726-3p	CLIP-seq
MIRT2035158	hsa-miR-4778-3p	CLIP-seq
MIRT1124432	hsa-miR-631	CLIP-seq
MIRT2265599	hsa-miR-1207-5p	CLIP-seq
MIRT2265600	hsa-miR-199a-3p	CLIP-seq
MIRT2265601	hsa-miR-199b-3p	CLIP-seq
MIRT2265602	hsa-miR-2682	CLIP-seq
MIRT2265603	hsa-miR-3129-5p	CLIP-seq
MIRT2265604	hsa-miR-3177-3p	CLIP-seq
MIRT2265605	hsa-miR-3622a-5p	CLIP-seq
MIRT2265606	hsa-miR-370	CLIP-seq
MIRT2265607	hsa-miR-380	CLIP-seq
MIRT2265608	hsa-miR-412	CLIP-seq
MIRT2265609	hsa-miR-4264	CLIP-seq
MIRT2265610	hsa-miR-4269	CLIP-seq
MIRT2265611	hsa-miR-4436b-3p	CLIP-seq
MIRT2265612	hsa-miR-449c	CLIP-seq
MIRT2265613	hsa-miR-4514	CLIP-seq
MIRT2035156	hsa-miR-4652-5p	CLIP-seq
MIRT2265614	hsa-miR-4692	CLIP-seq
MIRT1124425	hsa-miR-4717-5p	CLIP-seq
MIRT2265615	hsa-miR-4758-3p	CLIP-seq
MIRT2265616	hsa-miR-4763-3p	CLIP-seq
MIRT2035158	hsa-miR-4778-3p	CLIP-seq
MIRT2265617	hsa-miR-4797-3p	CLIP-seq
MIRT1124431	hsa-miR-513b	CLIP-seq
MIRT2265618	hsa-miR-564	CLIP-seq
MIRT2265619	hsa-miR-936	CLIP-seq
MIRT1124435	hsa-miR-940	CLIP-seq
MIRT2265620	hsa-miR-942	CLIP-seq
MIRT2390434	hsa-miR-205	CLIP-seq
MIRT2390435	hsa-miR-3157-5p	CLIP-seq
MIRT2390436	hsa-miR-4690-3p	CLIP-seq
MIRT2390437	hsa-miR-548aa	CLIP-seq
MIRT2390438	hsa-miR-570	CLIP-seq
MIRT2564998	hsa-miR-1269	CLIP-seq
MIRT2564999	hsa-miR-1269b	CLIP-seq
MIRT2565000	hsa-miR-1288	CLIP-seq
MIRT2565001	hsa-miR-1343	CLIP-seq
MIRT2565002	hsa-miR-1913	CLIP-seq
MIRT2565003	hsa-miR-1972	CLIP-seq
MIRT2390434	hsa-miR-205	CLIP-seq
MIRT2565004	hsa-miR-2355-5p	CLIP-seq
MIRT2565005	hsa-miR-24	CLIP-seq
MIRT2565006	hsa-miR-2861	CLIP-seq
MIRT1124410	hsa-miR-3136-3p	CLIP-seq
MIRT2390435	hsa-miR-3157-5p	CLIP-seq
MIRT2565007	hsa-miR-324-3p	CLIP-seq
MIRT2565008	hsa-miR-3657	CLIP-seq
MIRT2265606	hsa-miR-370	CLIP-seq
MIRT2565009	hsa-miR-3909	CLIP-seq
MIRT2565010	hsa-miR-4323	CLIP-seq
MIRT2565011	hsa-miR-450b-3p	CLIP-seq
MIRT2565012	hsa-miR-4512	CLIP-seq
MIRT2565013	hsa-miR-4515	CLIP-seq
MIRT2565014	hsa-miR-4669	CLIP-seq
MIRT2390436	hsa-miR-4690-3p	CLIP-seq
MIRT2565015	hsa-miR-4713-3p	CLIP-seq
MIRT1124425	hsa-miR-4717-5p	CLIP-seq
MIRT2565016	hsa-miR-4740-5p	CLIP-seq
MIRT2565017	hsa-miR-4755-3p	CLIP-seq
MIRT2265615	hsa-miR-4758-3p	CLIP-seq
MIRT1124430	hsa-miR-4786-3p	CLIP-seq
MIRT2565018	hsa-miR-638	CLIP-seq
MIRT2565019	hsa-miR-769-3p	CLIP-seq
MIRT2565001	hsa-miR-1343	CLIP-seq
MIRT2565004	hsa-miR-2355-5p	CLIP-seq
MIRT1124410	hsa-miR-3136-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19060904, 29892012, 32296183, 35512704
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	16356934
GO:0005794	Component	Golgi apparatus	IEA
GO:0012505	Component	Endomembrane system	IDA	30442762, 30442766
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IDA	30442762, 30442766
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031267	Function	Small GTPase binding	IDA	30442762, 30442766
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	30442762, 30442766
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IDA	30442762, 30442766
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0055037	Component	Recycling endosome	IEA
GO:0055038	Component	Recycling endosome membrane	IDA	30442762

Other IDs

• MIM: 600574
• HGNC: 6742
• e!Ensembl: ENSG00000099949

Protein

• UniProt ID: Q8N653
• Protein name: Leucine-zipper-like transcriptional regulator 1 (LZTR-1)
• Protein function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, PubMed:30481304). Is a negative regulator of R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13418	Kelch_4	67 → 116		Repeat
  PF07646	Kelch_2	117 → 166	Kelch motif	Repeat
  PF01344	Kelch_1	227 → 270	Kelch motif	Repeat
  PF01344	Kelch_1	283 → 328	Kelch motif	Repeat
  PF00651	BTB	433 → 573	BTB/POZ domain	Domain
  PF00651	BTB	656 → 767	BTB/POZ domain	Domain

• Sequence:

  MAGPGSTGGQIGAAALAGGARSKVAPSVDFDHSCSDSVEYLTLNFGPFETVHRWRRLPPC
  DEFVGARRSKHTVVAYKDAIYVFGGDNGKTMLNDLLRFDVKDCSWCRAFTTGTPPAPRYH
  HSAVVYGSSMFVFGGYTGDIYSNSNLKNKNDLFEYKFATGQWTEWKIEGRLPVARSAHGA
  TVYSDKLWIFAGYDGNARLNDMWTIGLQDRELTCWEEVAQSGEIPPSCCNFPVAVCRDKM
  FVFSGQSGAKITNNLFQFEFKDKTWTRIPTEHLLRGSPPPPQRRYGHTMVAFDRHLYVFG
  GAADNTLPNELHCYDVDFQTWEVVQPSSDSEVGGAEVPERACASEEVPTLTYEERVGFKK
  SRDVFGLDFGTTSAKQPTQPASELPSGRLFHAAAVISDAMYIFGGTVDNNIRSGEMYRFQ
  FSCYPKCTLHEDYGRLWESRQFCDVEFVLGEKEECVQGHVAIVTARSRWLRRKITQARER
  LAQKLEQEAAPVPREAPGVAAGGARPPLLHVAIREAEARPFEVLMQFLYTDKIKYPRKGH
  VEDVLLIMDVYKLALSFQLCRLEQLCRQYIEASVDLQNVLVVCESAARLQLSQLKEHCLN
  FVVKESHFNQVIMMKEFERLSSPLIVEIVRRKQQPPPRTPLDQPVDIGTSLIQDMKAYLE
  GAGAEFCDITLLLDGHPRPAHKAILAARSSYFEAMFRSFMPEDGQVNISIGEMVPSRQAF
  ESMLRYIYYGEVNMPPEDSLYLFAAPYYYGFYNNRLQAYCKQNLEMNVTVQNVLQILEAA
  DKTQALDMKRHCLHIIVHQFTKVSKLPTLRSLSQQLLLDIIDSLASHISDKQCAELGADI
  

• Sequence length: 840

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs780267761	RCV001291506
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs751123751, rs774779041, rs1924832357, rs1231204217, rs761241914, rs1450044732, rs1381717741, rs766446110, rs1924258572, rs587777177, rs1924497235, rs767445373, rs990151749, rs1390034681, rs2147969560, rs587777176, rs587777179, rs587777180, rs753347937, rs1486960809, rs1374011263, rs774954465, rs1351226319, rs758238174, rs143868364, rs997921403, rs746949078, rs2147966059, rs1458120855, rs1924657431, rs2147966067, rs778396468, rs778525532, rs770368435, rs943939913, rs939793375, rs777054968, rs1222197005, rs558510095, rs1924525661, rs1241079044, rs371015800, rs1189015572, rs2147961500, rs1475060729, rs779077819, rs1180748005, rs2147968331, rs2147967929, rs1924718115, rs772293748, rs2147962049, rs1263566071, rs747225246, rs754685052, rs771982640, rs770322736, rs753295968, rs2147965393, rs760312637, rs1328046881, rs1268674934, rs1457594219, rs1924868328, rs762434811, rs1924617179, rs587777613, rs751308379, rs2518617380, rs2518622579, rs532811225, rs2518612397, rs141357465, rs1924364964, rs2518618734, rs1257932527, rs1924441805, rs766476590, rs2518614047, rs760932744, rs757749973, rs776788495, rs886041542, rs1401166273, rs2518614905, rs2518614988, rs1280449769, rs746294125, rs2518614965, rs2518607691, rs2518614127, rs2518614129, rs2518614874, rs1924523150, rs2518618895, rs759626368, rs148031742, rs761185148, rs1449274241, rs546713633, rs2518617017, rs2518615704, rs1343634751, rs1924568324, rs2518615928, rs2518619891, rs1453114200, rs1436064204, rs750213029, rs752388008, rs2518617308, rs2518615810, rs145955180, rs756500067, rs1170363408, rs771525633, rs764446835, rs2518620566, rs754691019, rs1207454395, rs2518617390, rs2518617397, rs1317514162, rs1924619856, rs752600682, rs1924706492, rs2518620797, rs2518607943, rs1411200130, rs2518621901, rs2518621922, rs2518622339, rs1924687245, rs2518620707, rs2518620713, rs1385691888, rs1323078491, rs1389123610, rs1448380294, rs1924769528, rs2518622518, rs758122659, rs2518621130, rs1472642577, rs777908919, rs2518621615, rs2518621809, rs1924774579, rs2518622424, rs151000791, rs1274454493, rs748538968, rs773774069, rs2518624656, rs1034395178, rs774123273, rs2518626192, rs1601715859, rs2518622595, rs2518622598, rs2518607571, rs780380199, rs1924256257, rs2518608581, rs764787942, rs1924866379, rs2518626048, rs2518608027, rs772226479, rs2518623958, rs762991620, rs756794250, rs2518625842, rs1252629169, rs2518626005, rs2518607568, rs1239699760, rs573971763, rs1224744059, rs199765826, rs776223531, rs2518624711, rs2518625794, rs2518625795, rs768702304, rs1453933519, rs1555927561, rs2518612495, rs1924255143, rs756466043, rs752489470, rs2518625761, rs1601722136, rs1216738448, rs2518617065, rs869320686, rs797045165, rs2518622334, rs767191322, rs1310952470, rs1924256984, rs2518618764, rs1441230589, rs2518623764, rs2518624405, rs1569157966, rs2518619922, rs1273220768, rs2518610661, rs1448197132, rs2518607615, rs2518613383, rs2518607537, rs2518613257, rs2518620775, rs2518607851, rs2518613174, rs1405510958, rs2518621982, rs189150283, rs1038727557, rs1242347607, rs2518622326, rs2518607554, rs200472467, rs1434483881, rs2518625645, rs1386837360, rs1417177018, rs765095992, rs1482222775, rs1311529652, rs2518620365, rs758399311, rs775362512, rs1284057500, rs1924223700, rs2518610630, rs2518621948, rs2518620018, rs773745319, rs768770438, rs1924526245, rs2518608604, rs2518625597, rs2518613315, rs762889850, rs2518624359, rs763509989, rs778238435, rs2518618751, rs2518618871, rs1924657058, rs2518620371, rs2518620392, rs2518620438, rs1036772752, rs1469836617, rs2518620815, rs748528782, rs1374240053, rs1924773761, rs2518622446, rs766845746, rs2518608034, rs2518623978, rs2518624593, rs2518624625, rs2518626034, rs1188461028, rs2518612414, rs1214659869, rs2518607665, rs2518613293, rs1924464151, rs1924497432, rs2518614871, rs2518615671, rs2518615682, rs2518615777, rs2518615786, rs2518615889, rs2518607763, rs1924613952, rs2518617267, rs2518617273, rs1015399427, rs144711904, rs747430075, rs780267761, rs781431741, rs141672122, rs1131691862, rs1555927613, rs753474547, rs1460026299, rs149850248, rs1555927544, rs761685529, rs1555928249, rs145594158, rs770933647, rs777243508, rs1302923931, rs1390048261, rs1223430276, rs150419186, rs1419091884, rs1569154722, rs1458682620, rs752547717, rs1924461126, rs1924863769, rs1924869044, rs1569157346, rs769200796, rs982944299, rs1924462309, rs749437251	RCV005652613 RCV002322266 RCV004561084 RCV003164733 RCV002432059 RCV002368216 RCV005660134 RCV002413912 RCV004557584 RCV002456601 RCV004995728 RCV002377574 RCV004995734 RCV002404902 RCV002420867 RCV002426650 RCV002444559 RCV002390252 RCV002405205 RCV002458515 RCV004995942 RCV002421199 RCV002368595 RCV002386508 RCV002425044 RCV005660165 RCV002386552 RCV002414338 RCV002334691 RCV002414343 RCV002425072 RCV004996006 RCV005652706 RCV002386563 RCV002324209 RCV002324215 RCV002422878 RCV002361096 RCV004558814 RCV002344018 RCV005660262 RCV004996069 RCV004996137 RCV002407299 RCV004558684 RCV004558774 RCV002425326 RCV005660338 RCV003167262 RCV004996153 RCV005654902 RCV004558759 RCV002334969 RCV005585029 RCV002370648 RCV002397812 RCV002397931 RCV003161293 RCV002331528 RCV004558761 RCV004558762 RCV002398048 RCV002398011 RCV002352654 RCV004558763 RCV002352656 RCV004990504 RCV002334922 RCV002433625 RCV006357385 RCV003164433 RCV005574927 RCV002445432 RCV002324612 RCV002328204 RCV002322977 RCV002452700 RCV002320803 RCV002357815 RCV002324968 RCV002338568 RCV002347615 RCV002358180 RCV002358226 RCV002335932 RCV002355930 RCV002366557 RCV002364221 RCV002364243 RCV002364245 RCV002361888 RCV002343067 RCV002349904 RCV002351590 RCV002359983 RCV002360217 RCV002364512 RCV002362517 RCV002416692 RCV002416741 RCV002416742 RCV002416857 RCV002430372 RCV002434673 RCV002369642 RCV002377983 RCV002393822 RCV002412281 RCV002378702 RCV002385364 RCV002369354 RCV002385106 RCV002449932 RCV002449964 RCV002374049 RCV002380297 RCV002376129 RCV002380556 RCV002387983 RCV002387984 RCV002383490 RCV002391939 RCV002391943 RCV002398611 RCV002405885 RCV002387327 RCV002387365 RCV002382831 RCV002382865 RCV002382902 RCV002382903 RCV002389384 RCV002389709 RCV002403646 RCV002403686 RCV002399127 RCV002399216 RCV002410093 RCV002385487 RCV002394709 RCV002394759 RCV002396764 RCV002401045 RCV002406253 RCV002404145 RCV002407720 RCV002415155 RCV002394500 RCV002394501 RCV002394502 RCV002394839 RCV002400916 RCV002400959 RCV002400971 RCV002400972 RCV002400973 RCV002400974 RCV002406153 RCV002414966 RCV002412870 RCV002423625 RCV002422078 RCV002422128 RCV002422174 RCV002432837 RCV002432841 RCV002443841 RCV002450279 RCV002428637 RCV002408110 RCV002408136 RCV002408253 RCV002408404 RCV002432437 RCV002432453 RCV002428324 RCV002443635 RCV002448481 RCV002410904 RCV002417355 RCV002417374 RCV002425931 RCV002428104 RCV002448135 RCV002457593 RCV002428525 RCV002417092 RCV002417164 RCV002417165 RCV002417176 RCV002424278 RCV002425488 RCV002425570 RCV002428479 RCV002446367 RCV005370219 RCV005654999 RCV003164738 RCV004560036 RCV004560030 RCV004560029 RCV004992514 RCV004560047 RCV006342802 RCV004560056 RCV004560053 RCV005495490 RCV005363070 RCV003162109 RCV004990860 RCV003167787 RCV002381647 RCV002444774 RCV005662510 RCV003167900 RCV004559992 RCV003170797 RCV004990985 RCV004992577 RCV003183923 RCV003176582 RCV003176586 RCV003167992 RCV003167998 RCV003168002 RCV003168004 RCV003168007 RCV003168009 RCV003168010 RCV003168011 RCV003168014 RCV003173263 RCV003216358 RCV003216362 RCV003216363 RCV003216371 RCV003216373 RCV003216375 RCV003216381 RCV005363088 RCV005662631 RCV002429235 RCV006342963 RCV005662645 RCV004560176 RCV006342981 RCV005439133 RCV004992610 RCV004992611 RCV004560181 RCV004560182 RCV005537595 RCV004558148 RCV005377413 RCV006343049 RCV004558164 RCV005495605 RCV004558204 RCV004558977 RCV004558210 RCV004558208 RCV004558211 RCV004558979 RCV004992774 RCV004992785 RCV005445972 RCV005537713 RCV006347917 RCV004992909 RCV004559039 RCV004559040 RCV005662763 RCV005662786 RCV004560878 RCV004560894 RCV004560900 RCV004560910 RCV004560916 RCV004560939 RCV004560942 RCV004560945 RCV004560956 RCV004560957 RCV004560960 RCV004560968 RCV004560997 RCV004561004 RCV004561020 RCV004561023 RCV004561044 RCV004561045 RCV004561046 RCV004561049 RCV004561060 RCV004561063 RCV004561083 RCV004561085 RCV004561107 RCV004561116 RCV004561117 RCV004561144 RCV004561147 RCV004561153 RCV004561154 RCV004561157 RCV004561167 RCV004561174 RCV004561183 RCV004561188 RCV004561189 RCV004561194 RCV004561195 RCV004561206 RCV004561208 RCV004561211 RCV004561214 RCV004561238 RCV004561242 RCV004561244 RCV004561246 RCV004561250 RCV004994438 RCV004559048 RCV002436233 RCV002411278 RCV002341137 RCV002455940 RCV005367351 RCV004992300 RCV006342333 RCV002456013 RCV002404345 RCV002358639 RCV005372366 RCV004559255 RCV002413779 RCV003162767 RCV005492851 RCV002406499 RCV002386139 RCV004559339 RCV002360709 RCV002442408 RCV004993935 RCV002360863 RCV005540163 RCV005372430 RCV004559707 RCV002391061 RCV002337086 RCV002429739 RCV002445273 RCV002418577 RCV005372574 RCV002356868 RCV002402575 RCV003163777 RCV002379954 RCV002375333
Developmental disorder	Likely pathogenic; Pathogenic	rs587777176	RCV003126498
Emery-Dreifuss muscular dystrophy	Pathogenic	rs2147962064	RCV004527095
Familial multiple meningioma	Likely pathogenic	rs2518607819	RCV004549037
Fetal cystic hygroma	Likely pathogenic	rs869320686	RCV001526613
Gastric cancer	Pathogenic	rs764446835	RCV005931900
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs751123751, rs774779041, rs1924832357, rs1231204217, rs761241914, rs1450044732, rs1381717741, rs766446110, rs1924258572, rs587777177, rs1924497235, rs767445373, rs990151749, rs1390034681, rs2147969560, rs587777176, rs587777179, rs587777180, rs753347937, rs1486960809, rs1374011263, rs774954465, rs1351226319, rs758238174, rs143868364, rs997921403, rs746949078, rs2147966059, rs1458120855, rs1924657431, rs2147966067, rs778396468, rs778525532, rs770368435, rs943939913, rs939793375, rs777054968, rs1222197005, rs558510095, rs1924525661, rs1241079044, rs371015800, rs1189015572, rs2147961500, rs1475060729, rs779077819, rs1180748005, rs2147968331, rs2147967929, rs1924718115, rs772293748, rs2147962049, rs1263566071, rs747225246, rs754685052, rs771982640, rs770322736, rs753295968, rs2147965393, rs760312637, rs1328046881, rs1268674934, rs1457594219, rs1924868328, rs762434811, rs1924617179, rs587777613, rs751308379, rs2518617380, rs2518622579, rs532811225, rs2518612397, rs141357465, rs1924364964, rs2518618734, rs1257932527, rs1924441805, rs766476590, rs2518614047, rs760932744, rs757749973, rs776788495, rs886041542, rs1401166273, rs2518614905, rs2518614988, rs1280449769, rs746294125, rs2518614965, rs2518607691, rs2518614127, rs2518614129, rs2518614874, rs1924523150, rs2518618895, rs759626368, rs148031742, rs761185148, rs1449274241, rs546713633, rs2518617017, rs2518615704, rs1343634751, rs1924568324, rs2518615928, rs2518619891, rs1453114200, rs1436064204, rs750213029, rs752388008, rs2518617308, rs2518615810, rs145955180, rs756500067, rs1170363408, rs771525633, rs764446835, rs2518620566, rs754691019, rs1207454395, rs2518617390, rs2518617397, rs1317514162, rs1924619856, rs752600682, rs1924706492, rs2518620797, rs2518607943, rs1411200130, rs2518621901, rs2518621922, rs2518622339, rs1924687245, rs2518620707, rs2518620713, rs1385691888, rs1323078491, rs1389123610, rs1448380294, rs1924769528, rs2518622518, rs758122659, rs2518621130, rs1472642577, rs777908919, rs2518621615, rs2518621809, rs1924774579, rs2518622424, rs151000791, rs1274454493, rs748538968, rs773774069, rs2518624656, rs1034395178, rs774123273, rs2518626192, rs1601715859, rs2518622595, rs2518622598, rs2518607571, rs780380199, rs1924256257, rs2518608581, rs764787942, rs1924866379, rs2518626048, rs2518608027, rs772226479, rs2518623958, rs762991620, rs756794250, rs2518625842, rs1252629169, rs2518626005, rs2518607568, rs1239699760, rs573971763, rs1224744059, rs199765826, rs776223531, rs2518624711, rs2518625794, rs2518625795, rs768702304, rs1453933519, rs1555927561, rs2518612495, rs1924255143, rs756466043, rs752489470, rs2518625761, rs1601722136, rs1216738448, rs2518617065, rs869320686, rs797045165, rs2518622334, rs767191322, rs1310952470, rs1924256984, rs2518618764, rs1441230589, rs2518623764, rs2518624405, rs1569157966, rs2518619922, rs1273220768, rs2518610661, rs1448197132, rs2518607615, rs2518613383, rs2518607537, rs2518613257, rs2518620775, rs2518607851, rs2518613174, rs1405510958, rs2518621982, rs189150283, rs1038727557, rs1242347607, rs2518622326, rs2518607554, rs200472467, rs1434483881, rs2518625645, rs1386837360, rs1417177018, rs765095992, rs1482222775, rs1311529652, rs2518620365, rs758399311, rs775362512, rs1284057500, rs1924223700, rs2518610630, rs2518621948, rs2518620018, rs773745319, rs768770438, rs1924526245, rs2518608604, rs2518625597, rs2518613315, rs762889850, rs2518624359, rs763509989, rs778238435, rs2518618751, rs2518618871, rs1924657058, rs2518620371, rs2518620392, rs2518620438, rs1036772752, rs1469836617, rs2518620815, rs748528782, rs1374240053, rs1924773761, rs2518622446, rs766845746, rs2518608034, rs2518623978, rs2518624593, rs2518624625, rs2518626034, rs1188461028, rs2518612414, rs1214659869, rs2518607665, rs2518613293, rs1924464151, rs1924497432, rs2518614871, rs2518615671, rs2518615682, rs2518615777, rs2518615786, rs2518615889, rs2518607763, rs1924613952, rs2518617267, rs2518617273, rs1015399427, rs144711904, rs747430075, rs780267761, rs781431741, rs141672122, rs1131691862, rs1555927613, rs753474547, rs1460026299, rs149850248, rs1555927544, rs761685529, rs1555928249, rs145594158, rs770933647, rs777243508, rs1302923931, rs1390048261, rs1223430276, rs150419186, rs1419091884, rs1569154722, rs1458682620, rs752547717, rs1924461126, rs1924863769, rs1924869044, rs1569157346, rs769200796, rs982944299, rs1924462309, rs749437251	RCV005652613 RCV002322266 RCV004561084 RCV003164733 RCV002432059 RCV002368216 RCV005660134 RCV002413912 RCV004557584 RCV002456601 RCV004995728 RCV002377574 RCV004995734 RCV002404902 RCV002420867 RCV002426650 RCV002444559 RCV002390252 RCV002405205 RCV002458515 RCV004995942 RCV002421199 RCV002368595 RCV002386508 RCV002425044 RCV005660165 RCV002386552 RCV002414338 RCV002334691 RCV002414343 RCV002425072 RCV004996006 RCV005652706 RCV002386563 RCV002324209 RCV002324215 RCV002422878 RCV002361096 RCV004558814 RCV002344018 RCV005660262 RCV004996069 RCV004996137 RCV002407299 RCV004558684 RCV004558774 RCV002425326 RCV005660338 RCV003167262 RCV004996153 RCV005654902 RCV004558759 RCV002334969 RCV005585029 RCV002370648 RCV002397812 RCV002397931 RCV003161293 RCV002331528 RCV004558761 RCV004558762 RCV002398048 RCV002398011 RCV002352654 RCV004558763 RCV002352656 RCV004990504 RCV002334922 RCV002433625 RCV006357385 RCV003164433 RCV005574927 RCV002445432 RCV002324612 RCV002328204 RCV002322977 RCV002452700 RCV002320803 RCV002357815 RCV002324968 RCV002338568 RCV002347615 RCV002358180 RCV002358226 RCV002335932 RCV002355930 RCV002366557 RCV002364221 RCV002364243 RCV002364245 RCV002361888 RCV002343067 RCV002349904 RCV002351590 RCV002359983 RCV002360217 RCV002364512 RCV002362517 RCV002416692 RCV002416741 RCV002416742 RCV002416857 RCV002430372 RCV002434673 RCV002369642 RCV002377983 RCV002393822 RCV002412281 RCV002378702 RCV002385364 RCV002369354 RCV002385106 RCV002449932 RCV002449964 RCV002374049 RCV002380297 RCV002376129 RCV002380556 RCV002387983 RCV002387984 RCV002383490 RCV002391939 RCV002391943 RCV002398611 RCV002405885 RCV002387327 RCV002387365 RCV002382831 RCV002382865 RCV002382902 RCV002382903 RCV002389384 RCV002389709 RCV002403646 RCV002403686 RCV002399127 RCV002399216 RCV002410093 RCV002385487 RCV002394709 RCV002394759 RCV002396764 RCV002401045 RCV002406253 RCV002404145 RCV002407720 RCV002415155 RCV002394500 RCV002394501 RCV002394502 RCV002394839 RCV002400916 RCV002400959 RCV002400971 RCV002400972 RCV002400973 RCV002400974 RCV002406153 RCV002414966 RCV002412870 RCV002423625 RCV002422078 RCV002422128 RCV002422174 RCV002432837 RCV002432841 RCV002443841 RCV002450279 RCV002428637 RCV002408110 RCV002408136 RCV002408253 RCV002408404 RCV002432437 RCV002432453 RCV002428324 RCV002443635 RCV002448481 RCV002410904 RCV002417355 RCV002417374 RCV002425931 RCV002428104 RCV002448135 RCV002457593 RCV002428525 RCV002417092 RCV002417164 RCV002417165 RCV002417176 RCV002424278 RCV002425488 RCV002425570 RCV002428479 RCV002446367 RCV005370219 RCV005654999 RCV003164738 RCV004560036 RCV004560030 RCV004560029 RCV004992514 RCV004560047 RCV006342802 RCV004560056 RCV004560053 RCV005495490 RCV005363070 RCV003162109 RCV004990860 RCV003167787 RCV002381647 RCV002444774 RCV005662510 RCV003167900 RCV004559992 RCV003170797 RCV004990985 RCV004992577 RCV003183923 RCV003176582 RCV003176586 RCV003167992 RCV003167998 RCV003168002 RCV003168004 RCV003168007 RCV003168009 RCV003168010 RCV003168011 RCV003168014 RCV003173263 RCV003216358 RCV003216362 RCV003216363 RCV003216371 RCV003216373 RCV003216375 RCV003216381 RCV005363088 RCV005662631 RCV002429235 RCV006342963 RCV005662645 RCV004560176 RCV006342981 RCV005439133 RCV004992610 RCV004992611 RCV004560181 RCV004560182 RCV005537595 RCV004558148 RCV005377413 RCV006343049 RCV004558164 RCV005495605 RCV004558204 RCV004558977 RCV004558210 RCV004558208 RCV004558211 RCV004558979 RCV004992774 RCV004992785 RCV005445972 RCV005537713 RCV006347917 RCV004992909 RCV004559039 RCV004559040 RCV005662763 RCV005662786 RCV004560878 RCV004560894 RCV004560900 RCV004560910 RCV004560916 RCV004560939 RCV004560942 RCV004560945 RCV004560956 RCV004560957 RCV004560960 RCV004560968 RCV004560997 RCV004561004 RCV004561020 RCV004561023 RCV004561044 RCV004561045 RCV004561046 RCV004561049 RCV004561060 RCV004561063 RCV004561083 RCV004561085 RCV004561107 RCV004561116 RCV004561117 RCV004561144 RCV004561147 RCV004561153 RCV004561154 RCV004561157 RCV004561167 RCV004561174 RCV004561183 RCV004561188 RCV004561189 RCV004561194 RCV004561195 RCV004561206 RCV004561208 RCV004561211 RCV004561214 RCV004561238 RCV004561242 RCV004561244 RCV004561246 RCV004561250 RCV004994438 RCV004559048 RCV002436233 RCV002411278 RCV002341137 RCV002455940 RCV005367351 RCV004992300 RCV006342333 RCV002456013 RCV002404345 RCV002358639 RCV005372366 RCV004559255 RCV002413779 RCV003162767 RCV005492851 RCV002406499 RCV002386139 RCV004559339 RCV002360709 RCV002442408 RCV004993935 RCV002360863 RCV005540163 RCV005372430 RCV004559707 RCV002391061 RCV002337086 RCV002429739 RCV002445273 RCV002418577 RCV005372574 RCV002356868 RCV002402575 RCV003163777 RCV002379954 RCV002375333
Hypertrophic cardiomyopathy 1	Likely pathogenic; Pathogenic	rs768702304	RCV002463986
Lung cancer	Likely pathogenic; Pathogenic	rs770368435	RCV005922468
LZTR1-associated CaLMs-syndrome	Pathogenic	rs1263566071	RCV005861332
LZTR1-related disorder	Likely pathogenic; Pathogenic	rs761241914, rs767445373, rs143868364, rs1222197005, rs371015800, rs1170363408, rs758238174, rs1389123610, rs2518623958, rs768702304, rs1188943579, rs869320686, rs797045165, rs1163650910, rs1180748005, rs2518621109, rs2518625857, rs1870169267, rs2518624465, rs747430075, rs780267761, rs781431741, rs1390048261, rs1223430276, rs150419186, rs769200796	RCV004545823 RCV004528498 RCV004536285 RCV005232781 RCV004542190 RCV004725266 RCV004534077 RCV004534090 RCV004545322 RCV004545839 RCV004545841 RCV004734846 RCV004530087 RCV004529732 RCV004529820 RCV004531543 RCV004527992 RCV004534675 RCV004542651 RCV004530516 RCV004530514 RCV004541521 RCV004535697 RCV004535698 RCV004535887 RCV004528408
LZTR1-related schwannomatosis	Likely pathogenic; Pathogenic	rs761241914, rs767445373, rs587777176, rs587777179, rs587777180, rs1472913919, rs1486960809, rs1374011263, rs1351226319, rs758238174, rs143868364, rs770368435, rs943939913, rs1409419929, rs777054968, rs558510095, rs1189015572, rs761956867, rs753295968, rs760312637, rs1328046881, rs148031742, rs762434811, rs2147964053, rs35574094, rs1682503990, rs587777613, rs751308379, rs1440693988, rs2518617380, rs2518607997, rs2518615678, rs2518622579, rs141357465, rs757749973, rs776788495, rs1343634751, rs752388008, rs2518615810, rs1170363408, rs771525633, rs2518620566, rs1385691888, rs777908919, rs2518621615, rs2518622424, rs774123273, rs772226479, rs1239699760, rs747225246, rs1924756229, rs1450044732, rs752489470, rs1216738448, rs869320686, rs797045165, rs767191322, rs573971763, rs1924256984, rs773774069, rs2518621982, rs1263566071, rs189150283, rs2518622522, rs1180748005, rs2518612590, rs2518618953, rs2518622326, rs2518610578, rs1924761523, rs2518607554, rs200472467, rs1222197005, rs1924258957, rs1434483881, rs2518625645, rs2518614089, rs1386837360, rs2518618124, rs1164266200, rs2518615661, rs2518620018, rs752600682, rs2518624359, rs2518624074, rs2518624695, rs144711904, rs2518612609, rs2518616930, rs2518622321, rs2518614945, rs1555928535, rs747430075, rs780267761, rs781431741, rs141672122, rs753474547, rs1460026299, rs149850248, rs761685529, rs145594158, rs770933647, rs1302923931, rs1390048261, rs1223430276, rs1249726034, rs150419186, rs1419091884, rs1569154722, rs1569153870, rs1924721014, rs769200796, rs982944299, rs1924462309, rs1924703709, rs749437251	RCV003462947 RCV003469723 RCV000087292 RCV000087295 RCV000087296 RCV004571055 RCV003470859 RCV003463049 RCV003470866 RCV003464126 RCV003464128 RCV003470912 RCV004571109 RCV003470926 RCV003470941 RCV004571432 RCV002290797 RCV002507803 RCV003471156 RCV003389264 RCV003471148 RCV004571886 RCV003471228 RCV002290824 RCV002290821 RCV003471081 RCV003464261 RCV005023430 RCV000133460 RCV002244164 RCV002272718 RCV002288407 RCV002289110 RCV002290048 RCV002290365 RCV005025798 RCV004572321 RCV003471352 RCV003471360 RCV003471358 RCV003471369 RCV005254075 RCV003447627 RCV004572410 RCV003465721 RCV003464505 RCV003465723 RCV003464528 RCV003465728 RCV003465741 RCV003151409 RCV003138261 RCV004572456 RCV002466951 RCV003464566 RCV002471321 RCV004572790 RCV003475419 RCV000763072 RCV000763073 RCV003464647 RCV004572858 RCV004572879 RCV003466040 RCV004572892 RCV003466056 RCV000763074 RCV003389310 RCV003459855 RCV003445337 RCV003447769 RCV003470008 RCV003470011 RCV003470017 RCV003470018 RCV003470023 RCV003470027 RCV003461821 RCV003461822 RCV003470031 RCV003470032 RCV003470033 RCV003470034 RCV004574180 RCV004573256 RCV005860387 RCV004573357 RCV003990928 RCV004576831 RCV004576834 RCV004576835 RCV004576842 RCV004576843 RCV004576851 RCV004576854 RCV004576855 RCV000765613 RCV003463815 RCV003476002 RCV001542701 RCV005027560 RCV004568674 RCV004568672 RCV002466528 RCV001310194 RCV003465362 RCV001788313 RCV004568485 RCV005027835 RCV006257314 RCV004568578 RCV003465672 RCV002290002 RCV004569428 RCV000785628 RCV000785627 RCV003469290 RCV001196341 RCV001196403 RCV003469321 RCV004570565 RCV001810004 RCV003462828 RCV003469506
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Pathogenic; Likely pathogenic	rs145955180, rs781431741, rs1223430276	RCV003991591 RCV003991579 RCV003991581
Malignant tumor of esophagus	Likely pathogenic	rs143868364	RCV005920723
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs1450044732, rs200472467, rs746294125	RCV005912610 RCV005927714 RCV005931463
Monogenic short statue	Likely pathogenic; Pathogenic	rs1274454493, rs149850248	RCV005865651 RCV005865352
Neoplasm	Pathogenic; Likely pathogenic	rs587777613, rs1223430276	RCV005230281 RCV006273982
Non-immune hydrops fetalis	Pathogenic	rs747430075	RCV001375986
Noonan syndrome	Likely pathogenic; Pathogenic	rs2147964105, rs753295968, rs747225246, rs869320686, rs761685529, rs1249726034, rs1601718760	RCV001849896 RCV004017884 RCV003336763 RCV005625421 RCV003336096 RCV005357978 RCV006269005
Noonan syndrome 1	Likely pathogenic; Pathogenic	rs764787942, rs869320686, rs762475898, rs1223430276, rs1601718760	RCV004698793 RCV004698786 RCV003151695 RCV003151134 RCV003151148
Noonan syndrome 10	Likely pathogenic; Pathogenic	rs761241914, rs587777176, rs587777180, rs143868364, rs2147971083, rs1458120855, rs943939913, rs1189015572, rs753295968, rs1682503990, rs587777613, rs751308379, rs141357465, rs772226479, rs2518613210, rs2518610602, rs1216738448, rs869320686, rs797045165, rs797045166, rs2147964105, rs189150283, rs747430075, rs781431741, rs141672122, rs767191322, rs1460026299, rs149850248, rs1302923931, rs1390048261, rs1223430276, rs150419186, rs1924703709, rs1423756155, rs145594158	RCV005023120 RCV002498472 RCV005031596 RCV003458230 RCV001775332 RCV004558646 RCV001809170 RCV002507803 RCV002243491 RCV005023430 RCV003225720 RCV002244164 RCV005025798 RCV005055196 RCV002470206 RCV002470394 RCV004786744 RCV000191027 RCV000191028 RCV000191029 RCV005254752 RCV000763074 RCV000765613 RCV004722819 RCV005027560 RCV005034074 RCV005398755 RCV001293930 RCV005027835 RCV001330298 RCV000761304 RCV001330297 RCV005029826 RCV001257442 RCV001264409
Noonan syndrome 2	Likely pathogenic; Pathogenic	rs761241914, rs1390034681, rs587777176, rs587777179, rs587777180, rs753347937, rs2147961992, rs1215353050, rs1458120855, rs1189015572, rs753295968, rs1268674934, rs1924868328, rs1682503990, rs587777613, rs751308379, rs141357465, rs143868364, rs2518621130, rs772226479, rs1224744059, rs199765826, rs1924619856, rs1555927561, rs1216738448, rs2518617065, rs797045165, rs189150283, rs2518621757, rs2518620018, rs2518607818, rs1448380294, rs747430075, rs141672122, rs767191322, rs1460026299, rs761685529, rs1034395178, rs1194536394, rs1555928249, rs145594158, rs770933647, rs777243508, rs1302923931, rs1249726034, rs150419186, rs1458682620, rs1924703709, rs770368435, rs1423756155	RCV005023120 RCV005867004 RCV002498472 RCV004783743 RCV005031596 RCV001507319 RCV001591700 RCV001706920 RCV004558646 RCV002507803 RCV002243491 RCV005238114 RCV003483868 RCV005023430 RCV003388573 RCV002244164 RCV005025798 RCV005051967 RCV005254085 RCV004700755 RCV005356123 RCV005254092 RCV002467408 RCV006269762 RCV004796777 RCV002814351 RCV004796089 RCV001706423 RCV003388821 RCV004587554 RCV004017195 RCV004796869 RCV005863133 RCV002271494 RCV005027560 RCV005034074 RCV004783801 RCV000735432 RCV000625963 RCV004788043 RCV001267719 RCV002248854 RCV000754920 RCV000754922 RCV005027835 RCV000735430 RCV000735431 RCV000853390 RCV005029826 RCV001250472 RCV001257442
Noonan syndrome and Noonan-related syndrome	Likely pathogenic; Pathogenic	rs587777180, rs2147968505, rs189150283, rs747430075, rs1223430276	RCV001813376 RCV001813695 RCV001813447 RCV001813471 RCV001813545
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs1924364964, rs746294125	RCV005931811 RCV005931862
Pigmentary skin disorders	Pathogenic	rs587777613	RCV005860010
RASopathy	Likely pathogenic; Pathogenic	rs761241914, rs869320686, rs797045165, rs767191322, rs189150283, rs747430075, rs587777613, rs761685529, rs1034395178, rs1555928249, rs1390048261, rs1223430276, rs1569157346, rs770368435	RCV005401833 RCV004576927 RCV005401377 RCV005401994 RCV004732473 RCV003327295 RCV005401428 RCV005401478 RCV005401538 RCV005401537 RCV005401539 RCV005401567 RCV002233108 RCV001192874 RCV005401816
Schwannomatosis	Likely pathogenic; Pathogenic	rs587777176, rs587777180, rs943939913, rs747225246, rs1924868328, rs1486960809, rs1170363408, rs2518625696, rs2518621982, rs189150283, rs2147962064, rs1460026299, rs149850248, rs1555927561, rs148031742, rs1924439391, rs1924566447, rs1924610101, rs1369717076, rs1924717764, rs1924462309, rs749437251	RCV004700409 RCV001260384 RCV004699489 RCV004699611 RCV003483868 RCV005414284 RCV005239411 RCV004765778 RCV004765781 RCV001193024 RCV004579633 RCV004767326 RCV004767415 RCV004767447 RCV004587044 RCV001174666 RCV004768890 RCV004768889 RCV004768891 RCV004768903 RCV004699216 RCV004699277
See cases	Pathogenic; Likely pathogenic	rs766446110, rs189150283	RCV004797942 RCV002252087
Short stature	Likely pathogenic	rs189150283	RCV000736158
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1241079044	RCV005923995
Uterine corpus endometrial carcinoma	Likely pathogenic	rs761185148	RCV005936622

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign; Likely benign	rs368158143, rs35767542	RCV005925644 RCV005900024
Bladder exstrophy	Uncertain significance; Likely benign	rs760064852, rs751444145	RCV000735828 RCV000735829
Cardiomyopathy	Conflicting classifications of pathogenicity	rs759568976	RCV006255214
Cervical cancer	Uncertain significance	rs770882185	RCV005934763
Congenital diaphragmatic hernia	Conflicting classifications of pathogenicity	rs1386054181	RCV001007902
Diffuse midline glioma, H3 K27-altered	Conflicting classifications of pathogenicity; Uncertain significance	rs587777178, rs758783465, rs760064852	RCV004776273 RCV003315260 RCV003315249
Familial cancer of breast	Benign	rs137977968	RCV005870953
Glioma susceptibility 1	Uncertain significance	rs762005490	RCV005925498
Hereditary cancer	Uncertain significance	rs752699291	RCV005601827
Intellectual disability	Uncertain significance	rs767354230	RCV005626359
Melanoma	Likely benign	rs760341864	RCV005931912
Mesothelioma	Likely benign	rs146197956	RCV005924260
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	rs1158550690	RCV005912257
Primary dilated cardiomyopathy	Uncertain significance	rs200390894	RCV003319237
Thymoma	Uncertain significance; Conflicting classifications of pathogenicity	rs758783465, rs772714594	RCV005917783 RCV005931896

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	36304963
Adrenocortical Carcinoma	Associate	36304963
Astrocytoma	Associate	30664951
Autistic Disorder	Associate	25961944
Bladder Exstrophy	Associate	34355505, 36349425, 37509153
Bladder Exstrophy and Epispadias Complex	Associate	37509153
Breast Neoplasms	Associate	40724954
Carcinogenesis	Associate	36304963, 37626065
Carcinoma Hepatocellular	Associate	28622513, 36304963
Cardiomyopathy Dilated	Associate	39577308
Cardiomyopathy Hypertrophic	Associate	30732632, 33568805
Cell Transformation Neoplastic	Associate	36304963
Choroidal Effusions	Associate	33568805
Conotruncal cardiac defects	Associate	22185286
Coronary Artery Disease	Associate	37143668
COVID 19	Associate	37143668
Depressive Disorder	Associate	36609239
Developmental Disabilities	Associate	30859559
DiGeorge Syndrome	Inhibit	16356934
DiGeorge Syndrome	Associate	22185286, 33879870
Dowling Degos Disease	Associate	30859559
Edema	Associate	33568805
Esophageal Neoplasms	Stimulate	36304963
Genetic Diseases Inborn	Associate	24362817
Glioblastoma	Associate	23917401, 30664951, 31337872
Glioma	Associate	23917401, 30664951
Heart Diseases	Associate	39577308
Hereditary renal agenesis	Associate	33824538
Histiocytic Sarcoma	Associate	31439678
Leukemia	Associate	35904492
Leukemia Myeloid Acute	Associate	33375770
Melanoma	Associate	35197475
Neoplasm Metastasis	Associate	35197475, 37626065
Neoplasms	Associate	25335493, 25480913, 29069277, 29384852, 30664951, 33025139, 34659131, 36304963
Neoplasms	Inhibit	35197475, 37626065
Neurilemmoma	Associate	24362817, 27856782, 28759666, 29384852, 32281771, 33025139, 35361920
Neurilemmoma	Inhibit	35391499
Neurofibromatosis 2	Associate	29409008
Neuroma Acoustic	Associate	25480913, 27856782, 33879870
Noonan like syndrome	Associate	30859559
Noonan Syndrome	Associate	29469822, 30664951, 30732632, 30859559, 31337872, 32514133, 35656879, 36609239, 37143668, 38254922, 39577308
Noonan Syndrome 2	Associate	29469822
Pain	Associate	29384852
Pancreatic Neoplasms	Associate	35114566
Precancerous Conditions	Associate	36304963
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	37143668
Schwannomatosis	Associate	24362817, 25335493, 25480913, 27856782, 29384852, 29409008, 30664951, 31337872, 31424590, 31438995, 32281771, 33025139, 33269527, 33879870, 35361920, 35391499, 35732500, 39577308
Squamous Cell Carcinoma of Head and Neck	Stimulate	36304963
Stillbirth	Associate	29469822
Stomach Neoplasms	Associate	36484990
Urinary Bladder Neoplasms	Associate	36304963
Uveal melanoma	Associate	36304963
Williams Beuren Region Duplication Syndrome	Associate	33269527