ClinVar for Gene (Select 4854) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1524

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201386	NM_000435.3(NOTCH3):c.6833G>A (p.Gly2278Glu)	NOTCH3 (G2278E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201385	NM_000435.3(NOTCH3):c.6766G>T (p.Ala2256Ser)	NOTCH3 (A2256S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201384	NM_000435.3(NOTCH3):c.6655G>A (p.Glu2219Lys)	NOTCH3 (E2219K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201383	NM_000435.3(NOTCH3):c.6599C>G (p.Thr2200Ser)	NOTCH3 (T2200S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201381	NM_000435.3(NOTCH3):c.6574G>C (p.Gly2192Arg)	NOTCH3 (G2192R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201380	NM_000435.3(NOTCH3):c.6572C>A (p.Pro2191Gln)	NOTCH3 (P2191Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201379	NM_000435.3(NOTCH3):c.58C>T (p.Pro20Ser)	NOTCH3 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201378	NM_000435.3(NOTCH3):c.5866T>G (p.Leu1956Val)	NOTCH3 (L1956V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201377	NM_000435.3(NOTCH3):c.5801C>T (p.Ala1934Val)	NOTCH3 (A1934V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201376	NM_000435.3(NOTCH3):c.5615G>A (p.Gly1872Asp)	NOTCH3 (G1872D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201375	NM_000435.3(NOTCH3):c.4987A>G (p.Met1663Val)	NOTCH3 (M1663V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201374	NM_000435.3(NOTCH3):c.4534G>T (p.Val1512Leu)	NOTCH3 (V1512L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201373	NM_000435.3(NOTCH3):c.3884A>C (p.Glu1295Ala)	NOTCH3 (E1295A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201371	NM_000435.3(NOTCH3):c.1537A>C (p.Ser513Arg)	NOTCH3 (S513R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201370	NM_000435.3(NOTCH3):c.124C>T (p.Pro42Ser)	NOTCH3 (P42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075663	NM_000435.3(NOTCH3):c.521G>C (p.Cys174Ser)	NOTCH3 (C174S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 3068874	NM_000435.3(NOTCH3):c.-5C>T	NOTCH3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3068873	NM_000435.3(NOTCH3):c.5314C>T (p.Gln1772Ter)	NOTCH3 (Q1772*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3067273	NM_000435.3(NOTCH3):c.5404dup (p.Ala1802fs)	NOTCH3 (A1802fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3065353	NM_000435.3(NOTCH3):c.6904C>T (p.Gln2302Ter)	NOTCH3 (Q2302*)	Single nucleotide variant (nonsense)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 3065040	NM_000435.3(NOTCH3):c.565T>G (p.Tyr189Asp)	NOTCH3 (Y189D)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 3064880	NM_000435.3(NOTCH3):c.1790G>C (p.Cys597Ser)	NOTCH3 (C597S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3062383	GRCh37/hg19 19p13.12(chr19:15263384-15683826)x3	AKAP8, AKAP8L +7 more	Copy number gain	not specified	GUncertain significance
Select item 3061847	NM_000435.3(NOTCH3):c.1074C>A (p.Asn358Lys)	NOTCH3 (N358K)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 3053383	NM_000435.3(NOTCH3):c.6036C>A (p.Ala2012=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3050655	NM_000435.3(NOTCH3):c.118+20C>A	NOTCH3	Single nucleotide variant (intron variant)	NOTCH3-related condition	GLikely benign
Select item 3049003	NM_000435.3(NOTCH3):c.897C>T (p.Ser299=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3046467	NM_000435.3(NOTCH3):c.6612G>A (p.Pro2204=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3045596	NM_000435.3(NOTCH3):c.6894C>T (p.Ser2298=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3043863	NM_000435.3(NOTCH3):c.882G>A (p.Thr294=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3041414	NM_000435.3(NOTCH3):c.87GCT[3] (p.Leu33del)	NOTCH3 (L33del)	Microsatellite (inframe deletion)	NOTCH3-related condition	GLikely benign
Select item 3036989	NM_000435.3(NOTCH3):c.6019C>T (p.Leu2007=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3036684	NM_000435.3(NOTCH3):c.4566G>A (p.Glu1522=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3036573	NM_000435.3(NOTCH3):c.2411-5C>T	NOTCH3	Single nucleotide variant (intron variant)	NOTCH3-related condition	GLikely benign
Select item 3032286	NM_000435.3(NOTCH3):c.5860G>A (p.Ala1954Thr)	NOTCH3 (A1954T)	Single nucleotide variant (missense variant)	NOTCH3-related condition	GUncertain significance
Select item 3031617	NM_000435.3(NOTCH3):c.6003C>T (p.Thr2001=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3030818	NM_000435.3(NOTCH3):c.5422A>G (p.Thr1808Ala)	NOTCH3 (T1808A)	Single nucleotide variant (missense variant)	NOTCH3-related condition	GUncertain significance
Select item 3030562	NM_000435.3(NOTCH3):c.5286G>T (p.Val1762=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3030469	NM_000435.3(NOTCH3):c.4569G>A (p.Glu1523=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition	GLikely benign
Select item 3026521	NM_000435.3(NOTCH3):c.265G>T (p.Gly89Cys)	NOTCH3 (G89C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3026520	NM_000435.3(NOTCH3):c.2228G>A (p.Cys743Tyr)	NOTCH3 (C743Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3026061	NM_000435.3(NOTCH3):c.1606+6G>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025374	NM_000435.3(NOTCH3):c.592G>A (p.Ala198Thr)	NOTCH3 (A198T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025298	NM_000435.3(NOTCH3):c.4884C>T (p.Asp1628=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022747	NM_000435.3(NOTCH3):c.4648C>G (p.His1550Asp)	NOTCH3 (H1550D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021954	NM_000435.3(NOTCH3):c.112G>T (p.Ala38Ser)	NOTCH3 (A38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020592	NM_000435.3(NOTCH3):c.1321C>G (p.Arg441Gly)	NOTCH3 (R441G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019145	NM_000435.3(NOTCH3):c.5778C>T (p.Ile1926=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012077	NM_000435.3(NOTCH3):c.5256A>G (p.Gln1752=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011759	NM_000435.3(NOTCH3):c.5604G>A (p.Gln1868=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003818	NM_000435.3(NOTCH3):c.1385C>T (p.Thr462Ile)	NOTCH3 (T462I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001901	NM_000435.3(NOTCH3):c.2410+12G>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996289	NM_000435.3(NOTCH3):c.1151C>T (p.Thr384Met)	NOTCH3 (T384M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988138	NM_000435.3(NOTCH3):c.3495C>T (p.Gly1165=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986321	NM_000435.3(NOTCH3):c.6201dup (p.Gly2068fs)	NOTCH3 (G2068fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2980920	NM_000435.3(NOTCH3):c.1797C>G (p.Asp599Glu)	NOTCH3 (D599E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979998	NM_000435.3(NOTCH3):c.83C>G (p.Pro28Arg)	NOTCH3 (P28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977990	NM_000435.3(NOTCH3):c.6144C>G (p.Ala2048=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977976	NM_000435.3(NOTCH3):c.802+6C>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2972905	NM_000435.3(NOTCH3):c.3009G>T (p.Trp1003Cys)	NOTCH3 (W1003C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2970676	NM_000435.3(NOTCH3):c.3589T>C (p.Tyr1197His)	NOTCH3 (Y1197H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963915	NM_000435.3(NOTCH3):c.1840+18G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921222	NM_000435.3(NOTCH3):c.341-2A>T	NOTCH3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2921083	NM_000435.3(NOTCH3):c.1952-11G>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2921071	NM_000435.3(NOTCH3):c.2981del (p.Gly994fs)	NOTCH3 (G994fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2920221	NM_000435.3(NOTCH3):c.3318C>T (p.Tyr1106=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919594	NM_000435.3(NOTCH3):c.1841-6C>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918829	NM_000435.3(NOTCH3):c.2236G>T (p.Gly746Cys)	NOTCH3 (G746C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918828	NM_000435.3(NOTCH3):c.6873A>C (p.Pro2291=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917727	NM_000435.3(NOTCH3):c.2792+15T>C	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916964	NM_000435.3(NOTCH3):c.4534G>A (p.Val1512Met)	NOTCH3 (V1512M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915520	NM_000435.3(NOTCH3):c.634T>G (p.Cys212Gly)	NOTCH3 (C212G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2913862	NM_000435.3(NOTCH3):c.282G>A (p.Gln94=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912609	NM_000435.3(NOTCH3):c.6227G>T (p.Gly2076Val)	NOTCH3 (G2076V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909216	NM_000435.3(NOTCH3):c.2793-2A>G	NOTCH3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2905849	NM_000435.3(NOTCH3):c.5733C>A (p.Ile1911=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905307	NM_000435.3(NOTCH3):c.6194G>A (p.Arg2065Lys)	NOTCH3 (R2065K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905104	NM_000435.3(NOTCH3):c.4722C>A (p.Ala1574=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902798	NM_000435.3(NOTCH3):c.1534G>A (p.Ala512Thr)	NOTCH3 (A512T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901728	NM_000435.3(NOTCH3):c.6767C>T (p.Ala2256Val)	NOTCH3 (A2256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897603	NM_000435.3(NOTCH3):c.1956C>G (p.Pro652=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894296	NM_000435.3(NOTCH3):c.4281A>G (p.Gln1427=)	LOC130063807, NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892610	NM_000435.3(NOTCH3):c.1193-4G>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888956	NM_000435.3(NOTCH3):c.108G>A (p.Pro36=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2888754	NM_000435.3(NOTCH3):c.289G>A (p.Val97Met)	NOTCH3 (V97M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878108	NM_000435.3(NOTCH3):c.605_606inv (p.Ala202Val)	NOTCH3 (A202V)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2875729	NM_000435.3(NOTCH3):c.6379T>A (p.Tyr2127Asn)	NOTCH3 (Y2127N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870692	NM_000435.3(NOTCH3):c.1619C>G (p.Thr540Arg)	NOTCH3 (T540R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870491	NM_000435.3(NOTCH3):c.2217G>T (p.Glu739Asp)	NOTCH3 (E739D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869233	NM_000435.3(NOTCH3):c.4237G>A (p.Asp1413Asn)	LOC130063807, NOTCH3 (D1413N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868833	NM_000435.3(NOTCH3):c.5363-13C>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868273	NM_000435.3(NOTCH3):c.1224C>T (p.Cys408=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867310	NM_000435.3(NOTCH3):c.6633C>T (p.Tyr2211=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865876	NM_000435.3(NOTCH3):c.1820G>A (p.Arg607His)	NOTCH3 (R607H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864971	NM_000435.3(NOTCH3):c.6578C>A (p.Pro2193His)	NOTCH3 (P2193H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864911	NM_000435.3(NOTCH3):c.6700C>T (p.Arg2234Cys)	NOTCH3 (R2234C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2863520	NM_000435.3(NOTCH3):c.2741_2742inv (p.Pro914Leu)	NOTCH3 (P914L)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2862980	NM_000435.3(NOTCH3):c.4278_4290del (p.Gln1427fs)	LOC130063807, NOTCH3 (Q1427fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2857974	NM_000435.3(NOTCH3):c.3548T>C (p.Val1183Ala)	NOTCH3 (V1183A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 16