ClinVar for Gene (Select 387755) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286136	NM_001042536.3(INSC):c.1157A>C (p.Tyr386Ser)	INSC (Y386S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286134	NM_001042536.3(INSC):c.-6A>T	INSC (I46F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286133	NM_001042536.3(INSC):c.559G>A (p.Ala187Thr)	INSC (A187T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286132	NM_001042536.3(INSC):c.494T>G (p.Met165Arg)	INSC (M212R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286131	NM_001042536.3(INSC):c.727C>T (p.Arg243Trp)	INSC (R278W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286130	NM_001042536.3(INSC):c.502T>C (p.Cys168Arg)	INSC (C215R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109897	NM_001042536.3(INSC):c.829G>A (p.Val277Ile)	INSC (V312I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109896	NM_001042536.3(INSC):c.770C>T (p.Thr257Met)	INSC (T292M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109895	NM_001042536.3(INSC):c.743G>A (p.Arg248Gln)	INSC (R283Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109894	NM_001042536.3(INSC):c.477G>T (p.Glu159Asp)	INSC (E206D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109893	NM_001042536.3(INSC):c.358G>A (p.Glu120Lys)	INSC (E120K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109892	NM_001042536.3(INSC):c.343C>A (p.Arg115Ser)	INSC (R115S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109891	NM_001042536.3(INSC):c.304C>T (p.Arg102Trp)	INSC (R149W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109890	NM_001042536.3(INSC):c.212G>T (p.Gly71Val)	INSC (G118V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109889	NM_001042536.3(INSC):c.151C>T (p.Pro51Ser)	INSC (P51S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109888	NM_001042536.3(INSC):c.1481G>A (p.Arg494His)	INSC (R452H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109887	NM_001042536.3(INSC):c.1394G>T (p.Cys465Phe)	INSC (C465F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109886	NM_001042536.3(INSC):c.1337C>A (p.Thr446Asn)	INSC (T404N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109885	NM_001042536.3(INSC):c.1093C>A (p.Gln365Lys)	INSC (Q365K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109884	NM_001042536.3(INSC):c.924C>A (p.His308Gln)	INSC (H266Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109883	NM_001042536.3(INSC):c.904G>A (p.Ala302Thr)	INSC (A260T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109882	NM_001042536.3(INSC):c.893C>T (p.Ala298Val)	INSC (A345V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641627	NM_001042536.3(INSC):c.1106T>G (p.Ile369Ser)	INSC (I327S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641626	NM_001042536.3(INSC):c.1104C>A (p.Ala368=)	INSC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641625	NM_001042536.3(INSC):c.1103C>A (p.Ala368Asp)	INSC (A326D +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2600373	NM_001042536.3(INSC):c.368C>G (p.Ala123Gly)	INSC (A170G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589144	NM_001042536.3(INSC):c.1480C>T (p.Arg494Cys)	INSC (A520V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569223	NM_001042536.3(INSC):c.781A>C (p.Ile261Leu)	INSC (I308L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542083	NM_001042536.3(INSC):c.759G>C (p.Gln253His)	INSC (Q300H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530415	NM_001042536.3(INSC):c.1546C>T (p.Arg516Trp)	INSC (R474W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487740	NM_001042536.3(INSC):c.597T>G (p.Ile199Met)	INSC (I246M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470803	NM_001042536.3(INSC):c.343C>T (p.Arg115Cys)	INSC (R162C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460218	NM_001042536.3(INSC):c.736A>T (p.Ser246Cys)	INSC (S246C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399307	NM_001042536.3(INSC):c.295C>T (p.Arg99Cys)	INSC (R146C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394973	NM_001042536.3(INSC):c.790G>A (p.Val264Met)	INSC (V311M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392105	NM_001042536.3(INSC):c.326G>A (p.Arg109His)	INSC (R109H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383902	NM_001042536.3(INSC):c.663G>C (p.Glu221Asp)	INSC (E268D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372176	NM_001042536.3(INSC):c.1153C>A (p.Pro385Thr)	INSC (P420T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370723	NM_001031853.5(INSC):c.8G>A (p.Arg3Gln)	INSC (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348084	NM_001042536.3(INSC):c.216C>A (p.Asp72Glu)	INSC (D72E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316083	NM_001042536.3(INSC):c.116C>A (p.Thr39Asn)	INSC (T39N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310885	NM_001042536.3(INSC):c.1319A>C (p.Gln440Pro)	INSC (Q487P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299421	NM_001042536.3(INSC):c.347C>T (p.Ser116Phe)	INSC (S116F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288633	NM_001042536.3(INSC):c.38T>A (p.Val13Asp)	INSC (V13D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269493	NM_001042536.3(INSC):c.1244A>G (p.Gln415Arg)	INSC (Q415R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236034	NM_001042536.3(INSC):c.118G>A (p.Glu40Lys)	INSC (E87K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235685	NM_001042536.3(INSC):c.967G>A (p.Glu323Lys)	INSC (E370K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232954	NM_001042536.3(INSC):c.760G>A (p.Ala254Thr)	INSC (A301T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232020	NM_001042536.3(INSC):c.1453G>A (p.Val485Met)	INSC (V485M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216105	NM_001042536.3(INSC):c.1384C>T (p.Arg462Trp)	INSC (R462W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215407	NM_001042536.3(INSC):c.916T>C (p.Ser306Pro)	INSC (S264P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215406	NM_001042536.3(INSC):c.913A>C (p.Thr305Pro)	INSC (T263P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215405	NM_001042536.3(INSC):c.911T>C (p.Val304Ala)	INSC (V262A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815412	GRCh37/hg19 11p15.2(chr11:14938595-15277484)x3	CALCB, CALCA +1 more	Copy number gain	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 781218	NM_001042536.3(INSC):c.706G>A (p.Val236Ile)	INSC (V236I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 442407	GRCh37/hg19 11p15.2(chr11:14460052-15556068)x3	CALCA, CALCB +5 more	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 154135	GRCh38/hg38 11p15.2(chr11:14684722-15210307)x3	CALCA, CALCB +13 more	Copy number gain	See cases	GUncertain significance
Select item 151351	GRCh38/hg38 11p15.2(chr11:14914381-15240180)x3	CALCA, CALCB +7 more	Copy number gain	See cases	GLikely benign
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 146351	GRCh38/hg38 11p15.2(chr11:14619894-15179026)x3	LOC130005370, LOC130005371 +14 more	Copy number gain	See cases	GUncertain significance
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57954	GRCh38/hg38 11p15.2(chr11:14924804-15253488)x3	CALCA, CALCB +7 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 73