ClinVar for Gene (Select 284418) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280745	NM_001145402.2(GARIN5B):c.2636T>C (p.Met879Thr)	GARIN5B (M879T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280744	NM_001145402.2(GARIN5B):c.1426C>G (p.Pro476Ala)	GARIN5B (P476A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280743	NM_001145402.2(GARIN5B):c.604C>T (p.Arg202Cys)	GARIN5B (R202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280742	NM_001145402.2(GARIN5B):c.718C>G (p.Leu240Val)	GARIN5B (L240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280741	NM_001145402.2(GARIN5B):c.1721G>C (p.Arg574Thr)	GARIN5B (R574T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280740	NM_001145402.2(GARIN5B):c.2704G>A (p.Val902Ile)	GARIN5B (V902I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280739	NM_001145402.2(GARIN5B):c.2177C>T (p.Thr726Ile)	GARIN5B (T726I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280738	NM_001145402.2(GARIN5B):c.2482C>T (p.Arg828Trp)	GARIN5B (R828W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280737	NM_001145402.2(GARIN5B):c.386G>A (p.Arg129His)	GARIN5B (R129H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280735	NM_001145402.2(GARIN5B):c.526C>A (p.Pro176Thr)	GARIN5B (P176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098524	NM_001145402.2(GARIN5B):c.935T>G (p.Val312Gly)	GARIN5B (V312G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098523	NM_001145402.2(GARIN5B):c.934G>C (p.Val312Leu)	GARIN5B (V312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098522	NM_001145402.2(GARIN5B):c.862G>A (p.Ala288Thr)	GARIN5B (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098521	NM_001145402.2(GARIN5B):c.829A>T (p.Thr277Ser)	GARIN5B (T277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098520	NM_001145402.2(GARIN5B):c.802C>T (p.Arg268Cys)	GARIN5B (R268C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098519	NM_001145402.2(GARIN5B):c.631G>A (p.Ala211Thr)	GARIN5B (A211T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098518	NM_001145402.2(GARIN5B):c.594G>C (p.Arg198Ser)	GARIN5B (R198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098517	NM_001145402.2(GARIN5B):c.539C>T (p.Ala180Val)	GARIN5B (A180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098516	NM_001145402.2(GARIN5B):c.509C>T (p.Thr170Met)	GARIN5B (T170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098515	NM_001145402.2(GARIN5B):c.452G>A (p.Arg151His)	GARIN5B (R151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098514	NM_001145402.2(GARIN5B):c.421G>A (p.Glu141Lys)	GARIN5B (E141K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098513	NM_001145402.2(GARIN5B):c.409G>A (p.Ala137Thr)	GARIN5B (A137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098512	NM_001145402.2(GARIN5B):c.404T>G (p.Leu135Arg)	GARIN5B (L135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098511	NM_001145402.2(GARIN5B):c.38T>C (p.Leu13Pro)	GARIN5B (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098510	NM_001145402.2(GARIN5B):c.380C>T (p.Ser127Leu)	GARIN5B (S127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098509	NM_001145402.2(GARIN5B):c.371G>A (p.Arg124His)	GARIN5B (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098508	NM_001145402.2(GARIN5B):c.35C>A (p.Pro12Gln)	GARIN5B (P12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098507	NM_001145402.2(GARIN5B):c.359G>A (p.Arg120His)	GARIN5B (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098506	NM_001145402.2(GARIN5B):c.312C>G (p.Ile104Met)	GARIN5B (I104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098505	NM_001145402.2(GARIN5B):c.308T>C (p.Met103Thr)	GARIN5B (M103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098504	NM_001145402.2(GARIN5B):c.2753C>T (p.Pro918Leu)	GARIN5B (P918L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098503	NM_001145402.2(GARIN5B):c.2712C>A (p.Asn904Lys)	GARIN5B (N904K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098502	NM_001145402.2(GARIN5B):c.2467C>A (p.Pro823Thr)	GARIN5B (P823T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098501	NM_001145402.2(GARIN5B):c.2444C>T (p.Ala815Val)	GARIN5B (A815V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098500	NM_001145402.2(GARIN5B):c.2402A>G (p.Lys801Arg)	GARIN5B (K801R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098499	NM_001145402.2(GARIN5B):c.2396G>A (p.Arg799His)	GARIN5B (R799H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098498	NM_001145402.2(GARIN5B):c.2251A>C (p.Lys751Gln)	GARIN5B (K751Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098497	NM_001145402.2(GARIN5B):c.2227G>T (p.Gly743Cys)	GARIN5B (G743C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098496	NM_001145402.2(GARIN5B):c.2143G>A (p.Ala715Thr)	GARIN5B (A715T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098495	NM_001145402.2(GARIN5B):c.2135C>T (p.Ser712Leu)	GARIN5B (S712L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098494	NM_001145402.2(GARIN5B):c.2038G>A (p.Val680Ile)	GARIN5B (V680I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098493	NM_001145402.2(GARIN5B):c.2011A>G (p.Arg671Gly)	GARIN5B (R671G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098492	NM_001145402.2(GARIN5B):c.2005C>T (p.Arg669Trp)	GARIN5B (R669W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098491	NM_001145402.2(GARIN5B):c.1912G>A (p.Gly638Ser)	GARIN5B (G638S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098490	NM_001145402.2(GARIN5B):c.1883C>T (p.Thr628Ile)	GARIN5B (T628I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098489	NM_001145402.2(GARIN5B):c.1832C>T (p.Ser611Leu)	GARIN5B (S611L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098488	NM_001145402.2(GARIN5B):c.1831T>G (p.Ser611Ala)	GARIN5B (S611A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098487	NM_001145402.2(GARIN5B):c.179T>C (p.Val60Ala)	GARIN5B (V60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098486	NM_001145402.2(GARIN5B):c.1778G>A (p.Arg593His)	GARIN5B (R593H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098485	NM_001145402.2(GARIN5B):c.1775T>C (p.Val592Ala)	GARIN5B (V592A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098484	NM_001145402.2(GARIN5B):c.1772C>T (p.Thr591Met)	GARIN5B (T591M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098483	NM_001145402.2(GARIN5B):c.1678C>A (p.Leu560Ile)	GARIN5B (L560I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098482	NM_001145402.2(GARIN5B):c.1658C>T (p.Pro553Leu)	GARIN5B (P553L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098481	NM_001145402.2(GARIN5B):c.1532C>T (p.Ser511Phe)	GARIN5B (S511F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098480	NM_001145402.2(GARIN5B):c.1525G>A (p.Ala509Thr)	GARIN5B (A509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098479	NM_001145402.2(GARIN5B):c.1495C>A (p.Pro499Thr)	GARIN5B (P499T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098478	NM_001145402.2(GARIN5B):c.1484T>G (p.Val495Gly)	GARIN5B (V495G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098477	NM_001145402.2(GARIN5B):c.1483G>A (p.Val495Ile)	GARIN5B (V495I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098476	NM_001145402.2(GARIN5B):c.1435T>C (p.Ser479Pro)	GARIN5B (S479P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098475	NM_001145402.2(GARIN5B):c.1426C>A (p.Pro476Thr)	GARIN5B (P476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098474	NM_001145402.2(GARIN5B):c.1420G>A (p.Ala474Thr)	GARIN5B (A474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098473	NM_001145402.2(GARIN5B):c.139A>G (p.Asn47Asp)	GARIN5B (N47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098472	NM_001145402.2(GARIN5B):c.1334C>T (p.Ala445Val)	GARIN5B, LOC130065108 (A445V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098471	NM_001145402.2(GARIN5B):c.1319A>G (p.Gln440Arg)	GARIN5B, LOC130065108 (Q440R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098470	NM_001145402.2(GARIN5B):c.1183G>T (p.Gly395Trp)	GARIN5B (G395W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098469	NM_001145402.2(GARIN5B):c.116G>T (p.Arg39Leu)	GARIN5B (R39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098468	NM_001145402.2(GARIN5B):c.116G>A (p.Arg39His)	GARIN5B (R39H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098467	NM_001145402.2(GARIN5B):c.109C>T (p.Pro37Ser)	GARIN5B (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098466	NM_001145402.2(GARIN5B):c.104A>G (p.Tyr35Cys)	GARIN5B (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098465	NM_001145402.2(GARIN5B):c.1047C>A (p.Asp349Glu)	GARIN5B (D349E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098464	NM_001145402.2(GARIN5B):c.1043T>G (p.Met348Arg)	GARIN5B (M348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098463	NM_001145402.2(GARIN5B):c.100G>A (p.Glu34Lys)	GARIN5B (E34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650522	NM_001145402.2(GARIN5B):c.933G>C (p.Val311=)	GARIN5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650521	NM_001145402.2(GARIN5B):c.1632T>C (p.Pro544=)	GARIN5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650520	NM_001145402.2(GARIN5B):c.1686C>T (p.Gly562=)	GARIN5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650519	NM_001145402.2(GARIN5B):c.1809G>A (p.Thr603=)	GARIN5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619568	NM_001145402.2(GARIN5B):c.370C>T (p.Arg124Cys)	GARIN5B (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616169	NM_001145402.2(GARIN5B):c.878C>G (p.Ser293Cys)	GARIN5B (S293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603344	NM_001145402.2(GARIN5B):c.664C>T (p.Arg222Cys)	GARIN5B (R222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594240	NM_001145402.2(GARIN5B):c.1396C>G (p.Pro466Ala)	GARIN5B (P466A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593144	NM_001145402.2(GARIN5B):c.685G>A (p.Val229Met)	GARIN5B (V229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592858	NM_001145402.2(GARIN5B):c.1981G>A (p.Val661Met)	GARIN5B (V661M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555954	NM_001145402.2(GARIN5B):c.2549C>G (p.Pro850Arg)	GARIN5B (P850R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548330	NM_001145402.2(GARIN5B):c.1141G>A (p.Gly381Ser)	GARIN5B (G381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547650	NM_001145402.2(GARIN5B):c.129G>A (p.Met43Ile)	GARIN5B (M43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543398	NM_001145402.2(GARIN5B):c.836C>T (p.Thr279Ile)	GARIN5B (T279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541804	NM_001145402.2(GARIN5B):c.2506C>T (p.Leu836Phe)	GARIN5B (L836F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538389	NM_001145402.2(GARIN5B):c.2510T>G (p.Ile837Ser)	GARIN5B (I837S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537442	NM_001145402.2(GARIN5B):c.2176A>G (p.Thr726Ala)	GARIN5B (T726A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533056	NM_001145402.2(GARIN5B):c.2699C>T (p.Ser900Leu)	GARIN5B (S900L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532731	NM_001145402.2(GARIN5B):c.1363G>A (p.Val455Ile)	GARIN5B, LOC130065108 (V455I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521594	NM_001145402.2(GARIN5B):c.2023G>A (p.Ala675Thr)	GARIN5B (A675T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490064	NM_001145402.2(GARIN5B):c.491C>T (p.Thr164Ile)	GARIN5B (T164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481181	NM_001145402.2(GARIN5B):c.737G>A (p.Arg246Lys)	GARIN5B (R246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479772	NM_001145402.2(GARIN5B):c.2108T>G (p.Ile703Ser)	GARIN5B (I703S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479384	NM_001145402.2(GARIN5B):c.1303G>A (p.Gly435Arg)	GARIN5B, LOC130065108 (G435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468818	NM_001145402.2(GARIN5B):c.415G>A (p.Asp139Asn)	GARIN5B (D139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467064	NM_001145402.2(GARIN5B):c.145G>A (p.Val49Ile)	GARIN5B (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808436	GRCh37/hg19 19q13.42(chr19:55642778-55932200)x3	BRSK1, COX6B2 +16 more	Copy number gain	not provided	GUncertain significance

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