ClinVar for Gene (Select 89795) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298548	NM_001024383.2(NAV3):c.5830G>A (p.Val1944Ile)	NAV3 (V1922I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298547	NM_001024383.2(NAV3):c.1276T>G (p.Phe426Val)	NAV3 (F426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298546	NM_001024383.2(NAV3):c.3728T>C (p.Ile1243Thr)	NAV3 (I1243T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298545	NM_001024383.2(NAV3):c.6243A>C (p.Lys2081Asn)	NAV3 (K2081N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298544	NM_001024383.2(NAV3):c.1274G>A (p.Gly425Asp)	NAV3 (G425D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298542	NM_001024383.2(NAV3):c.4672C>G (p.Leu1558Val)	NAV3 (L1558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298541	NM_001024383.2(NAV3):c.3215G>T (p.Gly1072Val)	NAV3 (G1072V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298540	NM_001024383.2(NAV3):c.7102G>A (p.Glu2368Lys)	NAV3 (E2346K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298539	NM_001024383.2(NAV3):c.5618C>T (p.Thr1873Ile)	NAV3 (T1873I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298538	NM_001024383.2(NAV3):c.2339T>C (p.Met780Thr)	NAV3 (M780T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298537	NM_001024383.2(NAV3):c.5507A>C (p.Asn1836Thr)	NAV3 (N1836T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298536	NM_001024383.2(NAV3):c.2509A>C (p.Asn837His)	NAV3 (N837H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298535	NM_001024383.2(NAV3):c.4681A>G (p.Thr1561Ala)	NAV3 (T1561A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298534	NM_001024383.2(NAV3):c.6056G>C (p.Gly2019Ala)	NAV3 (G2019A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298533	NM_001024383.2(NAV3):c.6848G>A (p.Arg2283His)	NAV3 (R2261H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298532	NM_001024383.2(NAV3):c.4850C>G (p.Thr1617Ser)	NAV3 (T1617S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298531	NM_001024383.2(NAV3):c.3841A>G (p.Thr1281Ala)	NAV3 (T1281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298530	NM_001024383.2(NAV3):c.77T>C (p.Ile26Thr)	NAV3 (I26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298529	NM_001024383.2(NAV3):c.1096C>A (p.Leu366Met)	NAV3 (L366M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298528	NM_001024383.2(NAV3):c.6754G>A (p.Gly2252Ser)	NAV3 (G2230S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298527	NM_001024383.2(NAV3):c.2545T>C (p.Tyr849His)	NAV3 (Y849H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234322	NM_001024383.2(NAV3):c.36G>A (p.Gln12=)	NAV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3177652	NM_001024383.2(NAV3):c.862G>A (p.Ala288Thr)	NAV3 (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177649	NM_001024383.2(NAV3):c.763C>A (p.Pro255Thr)	NAV3 (P255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177640	NM_001024383.2(NAV3):c.6982A>G (p.Lys2328Glu)	NAV3 (K2328E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177633	NM_001024383.2(NAV3):c.6652C>A (p.Pro2218Thr)	NAV3 (P2196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177624	NM_001024383.2(NAV3):c.643G>A (p.Ala215Thr)	NAV3 (A215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177613	NM_001024383.2(NAV3):c.620C>T (p.Ser207Phe)	NAV3 (S207F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177606	NM_001024383.2(NAV3):c.6223A>G (p.Thr2075Ala)	NAV3 (T2053A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177603	NM_001024383.2(NAV3):c.6095C>T (p.Thr2032Met)	NAV3 (T2010M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177587	NM_001024383.2(NAV3):c.5876G>A (p.Arg1959His)	NAV3 (R1937H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177576	NM_001024383.2(NAV3):c.5495G>A (p.Arg1832Gln)	NAV3 (R1832Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177571	NM_001024383.2(NAV3):c.5444C>T (p.Thr1815Met)	NAV3 (T1793M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177553	NM_001024383.2(NAV3):c.4882A>G (p.Ile1628Val)	NAV3 (I1628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177544	NM_001024383.2(NAV3):c.4307A>C (p.Asn1436Thr)	NAV3 (N1436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177526	NM_001024383.2(NAV3):c.3709G>A (p.Gly1237Arg)	NAV3 (G1237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177518	NM_001024383.2(NAV3):c.3523A>G (p.Thr1175Ala)	NAV3 (T1175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177514	NM_001024383.2(NAV3):c.3517G>T (p.Ala1173Ser)	NAV3 (A1173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177511	NM_001024383.2(NAV3):c.346A>G (p.Ile116Val)	LOC126861580, NAV3 (I116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177507	NM_001024383.2(NAV3):c.3196G>A (p.Gly1066Ser)	NAV3 (G1066S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177503	NM_001024383.2(NAV3):c.3191C>A (p.Ser1064Tyr)	NAV3 (S1064Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177494	NM_001024383.2(NAV3):c.3065C>A (p.Ser1022Tyr)	NAV3 (S1022Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177488	NM_001024383.2(NAV3):c.3038C>A (p.Pro1013His)	NAV3 (P1013H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177480	NM_001024383.2(NAV3):c.2956A>G (p.Thr986Ala)	NAV3 (T986A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177444	NM_001024383.2(NAV3):c.2405G>C (p.Ser802Thr)	NAV3 (S802T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177428	NM_001024383.2(NAV3):c.2111G>A (p.Arg704His)	NAV3 (R704H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177398	NM_001024383.2(NAV3):c.1637C>T (p.Thr546Ile)	NAV3 (T546I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177390	NM_001024383.2(NAV3):c.1461G>C (p.Glu487Asp)	NAV3 (E487D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177383	NM_001024383.2(NAV3):c.139A>G (p.Thr47Ala)	NAV3 (T47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177377	NM_001024383.2(NAV3):c.1396A>G (p.Lys466Glu)	NAV3 (K466E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177356	NM_001024383.2(NAV3):c.1132C>A (p.Pro378Thr)	NAV3 (P378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2643184	NM_001024383.2(NAV3):c.1077C>A (p.Pro359=)	NAV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618010	NM_001024383.2(NAV3):c.3061G>A (p.Ala1021Thr)	NAV3 (A1021T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615072	NM_001024383.2(NAV3):c.2753C>G (p.Ser918Cys)	NAV3 (S918C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607452	NM_001024383.2(NAV3):c.2828A>T (p.Glu943Val)	NAV3 (E943V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602998	NM_001024383.2(NAV3):c.3104A>G (p.Gln1035Arg)	NAV3 (Q1035R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594881	NM_001024383.2(NAV3):c.5590C>T (p.Arg1864Trp)	NAV3 (R1842W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593286	NM_001024383.2(NAV3):c.232G>C (p.Glu78Gln)	NAV3 (E78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590950	NM_001024383.2(NAV3):c.5168C>A (p.Thr1723Asn)	NAV3 (T1723N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587990	NM_001024383.2(NAV3):c.6517A>G (p.Arg2173Gly)	NAV3 (R2173G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581715	NM_001024383.2(NAV3):c.4600T>G (p.Ser1534Ala)	NAV3 (S1534A)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2571627	NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)	NAV3 (Q222*)	Single nucleotide variant (nonsense)	Hearing impairment +6 more	GUncertain significance
Select item 2558213	NM_001024383.2(NAV3):c.1621A>G (p.Ile541Val)	NAV3 (I541V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555069	NM_001024383.2(NAV3):c.5746G>A (p.Val1916Met)	NAV3 (V1894M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554840	NM_001024383.2(NAV3):c.1955G>A (p.Cys652Tyr)	NAV3 (C652Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551275	NM_001024383.2(NAV3):c.4978A>G (p.Lys1660Glu)	NAV3 (K1660E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547259	NM_001024383.2(NAV3):c.5860G>T (p.Asp1954Tyr)	NAV3 (D1932Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546311	NM_001024383.2(NAV3):c.4265C>T (p.Pro1422Leu)	NAV3 (P1422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539713	NM_001024383.2(NAV3):c.976C>G (p.Pro326Ala)	NAV3 (P326A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525780	NM_001024383.2(NAV3):c.1747T>G (p.Leu583Val)	NAV3 (L583V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523811	NM_001024383.2(NAV3):c.175A>C (p.Lys59Gln)	NAV3 (K59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521546	NM_001024383.2(NAV3):c.4528G>A (p.Asp1510Asn)	NAV3 (D1510N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517869	NM_001024383.2(NAV3):c.2792G>C (p.Arg931Pro)	NAV3 (R931P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517674	NM_001024383.2(NAV3):c.2279G>A (p.Gly760Asp)	NAV3 (G760D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508125	NM_001024383.2(NAV3):c.2588G>A (p.Arg863Gln)	NAV3 (R863Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496565	NM_001024383.2(NAV3):c.4315G>C (p.Glu1439Gln)	NAV3 (E1439Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496343	NM_001024383.2(NAV3):c.5281T>G (p.Ser1761Ala)	NAV3 (S1761A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491056	NM_001024383.2(NAV3):c.2216C>G (p.Pro739Arg)	NAV3 (P739R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484908	NM_001024383.2(NAV3):c.1181G>C (p.Arg394Pro)	NAV3 (R394P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478833	NM_001024383.2(NAV3):c.5929A>G (p.Ser1977Gly)	NAV3 (S1955G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477988	NM_001024383.2(NAV3):c.5966T>C (p.Leu1989Ser)	NAV3 (L1967S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474614	NM_001024383.2(NAV3):c.2942T>C (p.Leu981Pro)	NAV3 (L981P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474325	NM_001024383.2(NAV3):c.4286C>A (p.Thr1429Asn)	NAV3 (T1429N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473669	NM_001024383.2(NAV3):c.3916G>A (p.Gly1306Ser)	NAV3 (G1306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471989	NM_001024383.2(NAV3):c.4063G>A (p.Ala1355Thr)	NAV3 (A1355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466881	NM_001024383.2(NAV3):c.5989G>A (p.Val1997Met)	NAV3 (V1997M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466760	NM_001024383.2(NAV3):c.1502A>G (p.Lys501Arg)	NAV3 (K501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458141	NM_001024383.2(NAV3):c.1178C>G (p.Ala393Gly)	NAV3 (A393G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458074	NM_001024383.2(NAV3):c.3248G>C (p.Gly1083Ala)	NAV3 (G1083A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406118	NM_001024383.2(NAV3):c.6263C>T (p.Thr2088Ile)	NAV3 (T2088I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400218	NM_001024383.2(NAV3):c.2614G>A (p.Asp872Asn)	NAV3 (D872N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395580	NM_001024383.2(NAV3):c.2988A>T (p.Gln996His)	NAV3 (Q996H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395208	NM_001024383.2(NAV3):c.7015A>G (p.Thr2339Ala)	NAV3 (T2339A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378220	NM_001024383.2(NAV3):c.1742C>A (p.Ala581Asp)	NAV3 (A581D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378078	NM_001024383.2(NAV3):c.6263C>G (p.Thr2088Ser)	NAV3 (T2066S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373681	NM_001024383.2(NAV3):c.3563G>A (p.Arg1188His)	NAV3 (R1188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373354	NM_001024383.2(NAV3):c.3608A>T (p.Lys1203Ile)	NAV3 (K1203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360383	NM_001024383.2(NAV3):c.1514T>G (p.Leu505Trp)	NAV3 (L505W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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