ClinVar for Gene (Select 64718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	CIAO3, CLCN7 +53 more	Deletion	not provided	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	MLST8, MMP25 +142 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 3186752	NM_001372107.1(UNKL):c.799G>A (p.Gly267Ser)	UNKL (G267S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186751	NM_001372107.1(UNKL):c.782C>T (p.Pro261Leu)	UNKL (P261L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186750	NM_001372107.1(UNKL):c.762C>A (p.His254Gln)	UNKL (H254Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186748	NM_001372107.1(UNKL):c.755T>C (p.Val252Ala)	UNKL (V252A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186747	NM_001372107.1(UNKL):c.753T>C (p.Ser251=)	UNKL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3186746	NM_001372107.1(UNKL):c.722G>A (p.Arg241Gln)	UNKL (R241Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186745	NM_001372107.1(UNKL):c.2090A>T (p.Glu697Val)	UNKL (E193V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186744	NM_001372107.1(UNKL):c.1832G>T (p.Arg611Leu)	UNKL (R107L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186743	NM_001372107.1(UNKL):c.175A>G (p.Asn59Asp)	UNKL (N59D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186742	NM_001372107.1(UNKL):c.1693C>T (p.Pro565Ser)	UNKL (P61S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186740	NM_001372107.1(UNKL):c.1655T>C (p.Ile552Thr)	UNKL (I48T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186739	NM_001372107.1(UNKL):c.1621G>A (p.Val541Ile)	UNKL (V541I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186738	NM_001372107.1(UNKL):c.1617C>G (p.Asp539Glu)	UNKL (D35E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186737	NM_001372107.1(UNKL):c.1603G>A (p.Gly535Arg)	UNKL (G31R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186736	NM_001372107.1(UNKL):c.1454C>T (p.Pro485Leu)	UNKL (P485L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186735	NM_001372107.1(UNKL):c.1451C>T (p.Ser484Leu)	UNKL (S484L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186734	NM_001372107.1(UNKL):c.1448C>A (p.Thr483Asn)	UNKL (T483N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186733	NM_001372107.1(UNKL):c.1442C>T (p.Ala481Val)	UNKL (A481V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186731	NM_001372107.1(UNKL):c.1220C>T (p.Ala407Val)	UNKL (A407V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186730	NM_001372107.1(UNKL):c.1217G>A (p.Arg406His)	UNKL (R406H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186728	NM_001372107.1(UNKL):c.1030C>T (p.Arg344Trp)	UNKL (R344W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2645897	NM_001372107.1(UNKL):c.507C>T (p.Gly169=)	UNKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618598	NM_001372107.1(UNKL):c.780A>T (p.Glu260Asp)	UNKL (E260D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616760	NM_001372107.1(UNKL):c.743C>T (p.Pro248Leu)	UNKL (P248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616509	NM_001372107.1(UNKL):c.427G>A (p.Gly143Ser)	UNKL (G143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608076	NM_001372107.1(UNKL):c.28G>T (p.Ala10Ser)	UNKL (A10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605861	NM_001372107.1(UNKL):c.1022A>G (p.Asn341Ser)	UNKL (N341S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600511	NM_001372107.1(UNKL):c.1099G>A (p.Val367Met)	UNKL (V367M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590708	NM_001372107.1(UNKL):c.1837C>T (p.Arg613Cys)	UNKL (R112C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590487	NM_001372107.1(UNKL):c.1048G>A (p.Glu350Lys)	UNKL (E350K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543185	NM_001372107.1(UNKL):c.58G>A (p.Glu20Lys)	UNKL (E20K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528204	NM_001372107.1(UNKL):c.40G>T (p.Gly14Trp)	UNKL (G14W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523888	NM_001372107.1(UNKL):c.1699G>A (p.Gly567Arg)	UNKL (G63R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510654	NM_001372107.1(UNKL):c.1237G>A (p.Ala413Thr)	UNKL (A413T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2508540	NM_001372107.1(UNKL):c.1156C>G (p.Leu386Val)	UNKL (L386V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2487006	NM_001372107.1(UNKL):c.26C>T (p.Ala9Val)	UNKL (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468530	NM_001372107.1(UNKL):c.1734C>G (p.Asp578Glu)	UNKL (D74E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466491	NM_001372107.1(UNKL):c.1487C>T (p.Pro496Leu)	UNKL (P496L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462833	NM_001372107.1(UNKL):c.1240A>G (p.Ser414Gly)	UNKL (S414G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	RHOT2, TPSAB1 +64 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2410500	NM_001372107.1(UNKL):c.1390G>A (p.Ala464Thr)	UNKL (A464T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2401885	NM_001372107.1(UNKL):c.1192A>C (p.Thr398Pro)	UNKL (T398P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398626	NM_001372107.1(UNKL):c.1622T>C (p.Val541Ala)	UNKL (V40A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391104	NM_001372107.1(UNKL):c.410A>G (p.His137Arg)	UNKL (H137R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389480	NM_001372107.1(UNKL):c.1132G>A (p.Val378Met)	UNKL (V378M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386337	NM_001372107.1(UNKL):c.1168G>A (p.Ala390Thr)	UNKL (A390T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2375577	NM_001372107.1(UNKL):c.338T>C (p.Leu113Pro)	UNKL (L113P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362741	NM_001372107.1(UNKL):c.2159C>T (p.Ala720Val)	UNKL (A169V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361380	NM_001372107.1(UNKL):c.1216C>T (p.Arg406Cys)	UNKL (R406C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360025	NM_001372107.1(UNKL):c.1304C>A (p.Ala435Glu)	UNKL (A435E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2352822	NM_001372107.1(UNKL):c.1367C>T (p.Ser456Leu)	UNKL (S456L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350526	NM_001372107.1(UNKL):c.1271C>T (p.Ala424Val)	UNKL (A424V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349810	NM_001372107.1(UNKL):c.1001C>T (p.Thr334Met)	UNKL (T334M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343901	NM_001372107.1(UNKL):c.662G>A (p.Arg221His)	UNKL (R221H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343317	NM_001372107.1(UNKL):c.1180A>G (p.Ser394Gly)	UNKL (S394G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2342508	NM_001372107.1(UNKL):c.1876A>G (p.Lys626Glu)	UNKL (K125E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332587	NM_001372107.1(UNKL):c.1544C>T (p.Pro515Leu)	UNKL (P515L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2331751	NM_001372107.1(UNKL):c.1430C>T (p.Ser477Leu)	UNKL (S477L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328686	NM_001372107.1(UNKL):c.1537T>G (p.Ser513Ala)	UNKL (S12A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323323	NM_001372107.1(UNKL):c.596A>G (p.Gln199Arg)	UNKL (Q199R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316717	NM_001372107.1(UNKL):c.379G>A (p.Ala127Thr)	UNKL (A127T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306397	NM_001372107.1(UNKL):c.1672C>T (p.Pro558Ser)	UNKL (P54S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288195	NM_001372107.1(UNKL):c.62A>C (p.Lys21Thr)	UNKL (K21T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286766	NM_001372107.1(UNKL):c.883C>T (p.Arg295Cys)	UNKL (R295C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282766	NM_001372107.1(UNKL):c.772T>C (p.Trp258Arg)	UNKL (W258R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277871	NM_001372107.1(UNKL):c.1846G>C (p.Asp616His)	UNKL (D112H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258952	NM_001372107.1(UNKL):c.698G>A (p.Arg233Gln)	UNKL (R233Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237839	NM_001372107.1(UNKL):c.761A>T (p.His254Leu)	UNKL (H254L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235733	NM_001372107.1(UNKL):c.485C>G (p.Ala162Gly)	UNKL (A162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235556	NM_001372107.1(UNKL):c.67A>C (p.Thr23Pro)	UNKL (T23P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229646	NM_001372107.1(UNKL):c.770A>G (p.Glu257Gly)	UNKL (E257G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225272	NM_001372107.1(UNKL):c.774G>T (p.Trp258Cys)	UNKL (W258C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220211	NM_001372107.1(UNKL):c.1043C>T (p.Pro348Leu)	UNKL (P348L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215137	NM_001372107.1(UNKL):c.830C>T (p.Thr277Met)	UNKL (T277M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210971	NM_001372107.1(UNKL):c.1561G>T (p.Ala521Ser)	UNKL (A521S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2204702	NM_001372107.1(UNKL):c.1459G>A (p.Gly487Ser)	UNKL (G487S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2204277	NM_001372107.1(UNKL):c.1811A>T (p.Glu604Val)	UNKL (E604V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	EME2, FAHD1 +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980584	GRCh37/hg19 16p13.3(chr16:1233996-1509217)x3	TPSG1, BAIAP3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 886152	NM_032520.5(GNPTG):c.*233C>T	UNKL, GNPTG	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 886151	NM_032520.5(GNPTG):c.*165A>T	UNKL, GNPTG	Single nucleotide variant (3 prime UTR variant +1 more)	GNPTG-mucolipidosis	GUncertain significance
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	BAIAP3, CACNA1H +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	ANTKMT, BAIAP3 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	SYNGR3, UQCC4 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic

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