ClinVar for Gene (Select 54437) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317384	NM_001031702.4(SEMA5B):c.2984G>A (p.Gly995Glu)	SEMA5B (G1049E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317383	NM_001031702.4(SEMA5B):c.3227C>A (p.Thr1076Asn)	SEMA5B (T1076N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317382	NM_001031702.4(SEMA5B):c.2095G>T (p.Gly699Trp)	SEMA5B (G753W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317381	NM_001031702.4(SEMA5B):c.100G>A (p.Gly34Ser)	SEMA5B (G34S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317380	NM_001031702.4(SEMA5B):c.1973T>G (p.Ile658Ser)	SEMA5B (I624S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317379	NM_001031702.4(SEMA5B):c.596G>A (p.Cys199Tyr)	SEMA5B (C199Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317378	NM_001031702.4(SEMA5B):c.1325T>A (p.Leu442Gln)	SEMA5B (L408Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317377	NM_001031702.4(SEMA5B):c.706A>T (p.Asn236Tyr)	SEMA5B (N178Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317376	NM_001031702.4(SEMA5B):c.2174G>C (p.Trp725Ser)	SEMA5B (W725S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317375	NM_001031702.4(SEMA5B):c.1405G>A (p.Val469Met)	SEMA5B (V411M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317373	NM_001031702.4(SEMA5B):c.924C>A (p.His308Gln)	SEMA5B (H250Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317372	NM_001031702.4(SEMA5B):c.371G>A (p.Arg124Gln)	SEMA5B (R124Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317371	NM_001031702.4(SEMA5B):c.1610C>T (p.Ala537Val)	SEMA5B (A479V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159883	NM_001031702.4(SEMA5B):c.752C>T (p.Thr251Met)	SEMA5B (T251M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159882	NM_001031702.4(SEMA5B):c.653G>A (p.Arg218Gln)	SEMA5B (R272Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159881	NM_001031702.4(SEMA5B):c.3223G>T (p.Ala1075Ser)	SEMA5B (A1041S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159880	NM_001031702.4(SEMA5B):c.3104T>C (p.Ile1035Thr)	SEMA5B (I1035T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159879	NM_001031702.4(SEMA5B):c.2936A>C (p.Asp979Ala)	SEMA5B (D1033A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159878	NM_001031702.4(SEMA5B):c.26C>G (p.Pro9Arg)	SEMA5B (P63R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3159877	NM_001031702.4(SEMA5B):c.2578G>C (p.Gly860Arg)	SEMA5B (G802R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159876	NM_001031702.4(SEMA5B):c.2546C>G (p.Pro849Arg)	SEMA5B (P791R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159875	NM_001031702.4(SEMA5B):c.2430C>G (p.His810Gln)	SEMA5B (H810Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159874	NM_001031702.4(SEMA5B):c.2152C>G (p.Pro718Ala)	SEMA5B (P660A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159873	NM_001031702.4(SEMA5B):c.1808T>G (p.Val603Gly)	SEMA5B (V657G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159872	NM_001031702.4(SEMA5B):c.1725G>C (p.Trp575Cys)	SEMA5B (W629C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159871	NM_001031702.4(SEMA5B):c.1415C>T (p.Ser472Leu)	SEMA5B (S438L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159870	NM_001031702.4(SEMA5B):c.1027C>T (p.Arg343Trp)	SEMA5B (R309W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616831	NM_001031702.4(SEMA5B):c.2021C>T (p.Ala674Val)	SEMA5B (A674V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615333	NM_001031702.4(SEMA5B):c.1019T>C (p.Met340Thr)	SEMA5B (M306T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614494	NM_001031702.4(SEMA5B):c.1028G>A (p.Arg343Gln)	SEMA5B (R285Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613506	NM_001031702.4(SEMA5B):c.3029C>G (p.Pro1010Arg)	SEMA5B (P1010R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609723	NM_001031702.4(SEMA5B):c.2638T>G (p.Cys880Gly)	SEMA5B (C846G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596562	NM_001031702.4(SEMA5B):c.503C>T (p.Thr168Met)	SEMA5B (T168M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589586	NM_001031702.4(SEMA5B):c.574G>A (p.Ala192Thr)	SEMA5B (A134T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2553547	NM_001031702.4(SEMA5B):c.2906C>T (p.Ser969Leu)	SEMA5B (S935L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549606	NM_001031702.4(SEMA5B):c.710C>T (p.Ser237Phe)	SEMA5B (S179F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547150	NM_001031702.4(SEMA5B):c.3233A>G (p.Asn1078Ser)	SEMA5B (N1132S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545183	NM_001031702.4(SEMA5B):c.23C>G (p.Ser8Cys)	SEMA5B (S62C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527549	NM_001031702.4(SEMA5B):c.403G>A (p.Gly135Arg)	SEMA5B (G189R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521290	NM_001031702.4(SEMA5B):c.1949A>C (p.Asp650Ala)	SEMA5B (D616A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520598	NM_001031702.4(SEMA5B):c.3413G>A (p.Arg1138Gln)	SEMA5B (R1044Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481333	NM_001031702.4(SEMA5B):c.1810C>T (p.Arg604Trp)	SEMA5B (R570W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455319	NM_001031702.4(SEMA5B):c.2560G>T (p.Gly854Trp)	SEMA5B (G796W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2397170	NM_001031702.4(SEMA5B):c.1294G>A (p.Gly432Ser)	SEMA5B (G374S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392271	NM_001031702.4(SEMA5B):c.1511C>T (p.Thr504Met)	SEMA5B (T446M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380024	NM_001031702.4(SEMA5B):c.496G>A (p.Glu166Lys)	SEMA5B (E166K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377984	NM_001031702.4(SEMA5B):c.2860A>T (p.Thr954Ser)	SEMA5B (T860S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377339	NM_001031702.4(SEMA5B):c.1742G>A (p.Arg581His)	SEMA5B (R523H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362163	NM_001031702.4(SEMA5B):c.3253G>A (p.Gly1085Arg)	SEMA5B (G1139R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357556	NM_001031702.4(SEMA5B):c.95T>G (p.Val32Gly)	SEMA5B (V32G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350599	NM_001031702.4(SEMA5B):c.949C>T (p.Arg317Cys)	SEMA5B (R317C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349682	NM_001031702.4(SEMA5B):c.1502C>T (p.Ala501Val)	SEMA5B (A555V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338248	NM_001031702.4(SEMA5B):c.1165G>T (p.Ala389Ser)	SEMA5B (A355S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337528	NM_001031702.4(SEMA5B):c.3116C>G (p.Ala1039Gly)	SEMA5B (A945G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334334	NM_001031702.4(SEMA5B):c.1776C>A (p.Ser592Arg)	SEMA5B (S558R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332019	NM_001031702.4(SEMA5B):c.2020G>A (p.Ala674Thr)	SEMA5B (A674T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329395	NM_001031702.4(SEMA5B):c.1798G>T (p.Ala600Ser)	SEMA5B (A566S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328055	NM_001031702.4(SEMA5B):c.2505C>A (p.Asp835Glu)	SEMA5B (D801E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319695	NM_001031702.4(SEMA5B):c.2564G>T (p.Gly855Val)	SEMA5B (G797V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297035	NM_001031702.4(SEMA5B):c.1103A>G (p.Gln368Arg)	SEMA5B (Q310R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293183	NM_001031702.4(SEMA5B):c.2551A>G (p.Thr851Ala)	SEMA5B (T793A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279525	NM_001031702.4(SEMA5B):c.956C>T (p.Ala319Val)	SEMA5B (A285V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276819	NM_001031702.4(SEMA5B):c.2665G>A (p.Gly889Ser)	SEMA5B (G831S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271926	NM_001031702.4(SEMA5B):c.1244C>T (p.Pro415Leu)	SEMA5B (P357L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271470	NM_001031702.4(SEMA5B):c.1795A>G (p.Thr599Ala)	SEMA5B (T541A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268816	NM_001031702.4(SEMA5B):c.1135G>A (p.Val379Ile)	SEMA5B (V321I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263928	NM_001031702.4(SEMA5B):c.2867A>G (p.Glu956Gly)	SEMA5B (E922G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248782	NM_001031702.4(SEMA5B):c.2431G>C (p.Gly811Arg)	SEMA5B (G777R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245642	NM_001031702.4(SEMA5B):c.3067A>G (p.Met1023Val)	SEMA5B (M1023V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2241651	NM_001031702.4(SEMA5B):c.2636C>T (p.Thr879Met)	SEMA5B (T933M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240685	NM_001031702.4(SEMA5B):c.3015G>C (p.Gln1005His)	SEMA5B (Q1005H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233874	NM_001031702.4(SEMA5B):c.1406T>C (p.Val469Ala)	SEMA5B (V435A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226576	NM_001031702.4(SEMA5B):c.1190A>T (p.Gln397Leu)	SEMA5B (Q339L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225997	NM_001031702.4(SEMA5B):c.1927C>G (p.Arg643Gly)	SEMA5B (R585G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224671	NM_001031702.4(SEMA5B):c.3283C>G (p.Pro1095Ala)	SEMA5B (P1001A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220383	NM_001031702.4(SEMA5B):c.1997C>T (p.Ala666Val)	SEMA5B (A608V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216335	NM_001031702.4(SEMA5B):c.2333C>G (p.Pro778Arg)	SEMA5B (P778R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210120	NM_001031702.4(SEMA5B):c.2482G>A (p.Gly828Ser)	SEMA5B (G794S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209615	NM_001031702.4(SEMA5B):c.1552C>T (p.His518Tyr)	SEMA5B (H484Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1230603	NM_001031702.4(SEMA5B):c.3083A>G (p.Asp1028Gly)	SEMA5B (D1028G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1224885	NM_001031702.4(SEMA5B):c.3091+15A>C	SEMA5B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 814474	GRCh37/hg19 3q21.1(chr3:122408684-122753973)x3	PARP14, SEMA5B +2 more	Copy number gain	not provided	GUncertain significance
Select item 717835	NM_001031702.4(SEMA5B):c.570C>T (p.Ile190=)	SEMA5B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 562813	GRCh37/hg19 3q21.1(chr3:122478089-122635129)x3	SEMA5B, SLC49A4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic

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