ClinVar for MedGen (Select 1634330) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2736837	NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)	NOTCH3 (C206Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2665014	NM_000435.3(NOTCH3):c.3536A>G (p.Asn1179Ser)	NOTCH3 (N1179S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 2628359	NM_000435.3(NOTCH3):c.29_53del (p.Arg10fs)	NOTCH3 (R10fs)	Deletion (frameshift variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 2581716	NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)	NOTCH3 (L2137fs)	Microsatellite (frameshift variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GLikely pathogenic
Select item 2572610	NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)	NOTCH3 (R153H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2572441	NM_000435.3(NOTCH3):c.4360del (p.Asp1454fs)	NOTCH3 (D1454fs)	Deletion (frameshift variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 2572414	NM_000435.3(NOTCH3):c.503G>A (p.Cys168Tyr)	NOTCH3 (C168Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 2507034	NM_000435.3(NOTCH3):c.1927T>G (p.Cys643Gly)	NOTCH3 (C643G)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 2503445	NM_000435.3(NOTCH3):c.169C>T (p.Gln57Ter)	NOTCH3 (Q57*)	Single nucleotide variant (nonsense)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 2501691	NM_000435.3(NOTCH3):c.1702T>C (p.Cys568Arg)	NOTCH3 (C568R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1895440	NM_000435.3(NOTCH3):c.2903C>A (p.Ser968Ter)	NOTCH3 (S968*)	Single nucleotide variant (nonsense)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1879845	NM_000435.3(NOTCH3):c.1136G>A (p.Cys379Tyr)	NOTCH3 (C379Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 1879844	NM_000435.3(NOTCH3):c.341-1G>C	NOTCH3	Single nucleotide variant (splice acceptor variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 1807354	NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)	NOTCH3 (G1058C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1805895	NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)	NOTCH3 (R2207Q)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1805526	NM_000435.3(NOTCH3):c.1791C>G (p.Cys597Trp)	NOTCH3 (C597W)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1805477	NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)	NOTCH3 (P21S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1805476	NM_000435.3(NOTCH3):c.457C>A (p.Arg153Ser)	NOTCH3 (R153S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1805226	NM_000435.3(NOTCH3):c.2723T>A (p.Phe908Tyr)	NOTCH3 (F908Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1804902	NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)	NOTCH3 (C522S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1803216	NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)	NOTCH3 (C144F)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1723897	NM_000435.3(NOTCH3):c.5081G>A (p.Arg1694Gln)	NOTCH3 (R1694Q)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1709971	NM_000435.3(NOTCH3):c.699T>G (p.Cys233Trp)	NOTCH3 (C233W)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 1709940	NM_000435.3(NOTCH3):c.2353C>T (p.Arg785Cys)	NOTCH3 (R785C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1709853	NM_000435.3(NOTCH3):c.2188A>C (p.Ser730Arg)	NOTCH3 (S730R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1709822	NM_000435.3(NOTCH3):c.3945C>G (p.Cys1315Trp)	NOTCH3 (C1315W)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1709694	NM_000435.3(NOTCH3):c.547T>A (p.Cys183Ser)	NOTCH3 (C183S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 1709613	NM_000435.3(NOTCH3):c.231_248del (p.Gln77_Cys82del)	NOTCH3	Deletion (inframe_deletion)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1709532	NM_000435.3(NOTCH3):c.2963G>A (p.Cys988Tyr)	NOTCH3 (C988Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 1709435	NM_000435.3(NOTCH3):c.4298_4299delinsAT (p.Cys1433Tyr)	NOTCH3 (C1433Y)	Indel (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1709399	NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)	NOTCH3 (C435R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1709237	NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)	NOTCH3 (C1261Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GConflicting classifications of pathogenicity
Select item 1709163	NM_000435.3(NOTCH3):c.298G>A (p.Gly100Ser)	NOTCH3 (G100S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1709076	NM_000435.3(NOTCH3):c.2815T>C (p.Cys939Arg)	NOTCH3 (C939R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1708950	NM_000435.3(NOTCH3):c.1427G>A (p.Ser476Asn)	NOTCH3 (S476N)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1696468	NM_000435.3(NOTCH3):c.2410+7C>T	NOTCH3	Single nucleotide variant (intron variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 1687431	NM_000435.3(NOTCH3):c.2142C>T (p.Gly714=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1687327	NM_000435.3(NOTCH3):c.398G>T (p.Arg133Leu)	NOTCH3 (R133L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1678629	NM_000435.3(NOTCH3):c.2791A>T (p.Ser931Cys)	NOTCH3 (S931C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1678547	NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr)	NOTCH3 (C559Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1678078	NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser)	NOTCH3 (G595S)	Single nucleotide variant (missense variant)	Lateral meningocele syndrome +3 more	GUncertain significance
Select item 1676246	NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)	NOTCH3 (R680C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1653964	NM_000435.3(NOTCH3):c.2410+15dup	NOTCH3	Duplication (intron variant)	Lateral meningocele syndrome +3 more	GLikely benign
Select item 1526213	NM_000435.3(NOTCH3):c.3545G>A (p.Cys1182Tyr)	NOTCH3 (C1182Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1526178	NM_000435.3(NOTCH3):c.403T>C (p.Ser135Pro)	NOTCH3 (S135P)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1415694	NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val)	NOTCH3 (A40V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1384932	NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His)	NOTCH3 (R728H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1365706	NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr)	NOTCH3 (C65Y)	Single nucleotide variant (missense variant)	NOTCH3-related condition +1 more	GPathogenic
Select item 1339489	NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)	NOTCH3 (R587C)	Single nucleotide variant (missense variant)	NOTCH3-related condition +3 more	GPathogenic/Likely pathogenic
Select item 1335332	NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val)	NOTCH3 (G1269V)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 1333478	NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg)	NOTCH3 (C542R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1333426	NM_000435.3(NOTCH3):c.1595G>A (p.Arg532His)	NOTCH3 (R532H)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1333211	NM_000435.3(NOTCH3):c.1478G>C (p.Cys493Ser)	NOTCH3 (C493S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1330220	NM_000435.3(NOTCH3):c.171G>C (p.Gln57His)	NOTCH3 (Q57H)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Gnot provided
Select item 1325600	NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg)	NOTCH3 (G917R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 1308456	NM_000435.3(NOTCH3):c.4163C>T (p.Pro1388Leu)	LOC130063807, NOTCH3 (P1388L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1299384	NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)	NOTCH3 (T987S)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1298355	NM_000435.3(NOTCH3):c.1492G>T (p.Gly498Cys)	NOTCH3 (G498C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 1297039	NM_000435.3(NOTCH3):c.547T>C (p.Cys183Arg)	NOTCH3 (C183R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1256540	NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)	NOTCH3 (H2227Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1256524	NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=)	NOTCH3	Single nucleotide variant (synonymous variant)	Myofibromatosis, infantile, 2 +3 more	GLikely benign
Select item 1256515	NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)	NOTCH3 (P120L)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1229369	NM_000435.3(NOTCH3):c.5913+45T>C	NOTCH3	Single nucleotide variant (intron variant)	Lateral meningocele syndrome +2 more	GBenign
Select item 1181077	NM_000435.3(NOTCH3):c.5913+55A>G	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1173096	NM_000435.3(NOTCH3):c.698G>A (p.Cys233Tyr)	NOTCH3 (C233Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 1098605	NM_000435.3(NOTCH3):c.3307A>G (p.Met1103Val)	NOTCH3 (M1103V)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 1032357	NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu)	NOTCH3 (P685L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 1032356	NM_000435.3(NOTCH3):c.107C>T (p.Pro36Leu)	NOTCH3 (P36L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028753	NM_000435.3(NOTCH3):c.3506C>A (p.Pro1169Gln)	NOTCH3 (P1169Q)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 994848	NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe)	NOTCH3 (C260F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 994826	NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr)	NOTCH3 (C516Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 994825	NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met)	NOTCH3 (V508M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 983004	NM_000435.3(NOTCH3):c.3872G>C (p.Arg1291Pro)	NOTCH3 (R1291P)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 978702	NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys)	NOTCH3 (W1003C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 978701	NM_000435.3(NOTCH3):c.382T>C (p.Cys128Arg)	NOTCH3 (C128R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 978700	NM_000435.3(NOTCH3):c.555T>G (p.Cys185Trp)	NOTCH3 (C185W)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 976176	NM_000435.3(NOTCH3):c.752G>T (p.Cys251Phe)	NOTCH3 (C251F)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 975967	NM_000435.3(NOTCH3):c.2701T>C (p.Cys901Arg)	NOTCH3 (C901R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely pathogenic
Select item 975965	NM_000435.3(NOTCH3):c.2254G>A (p.Asp752Asn)	NOTCH3 (D752N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 975941	NM_000435.3(NOTCH3):c.3241T>C (p.Cys1081Arg)	NOTCH3 (C1081R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 972687	NM_000435.3(NOTCH3):c.194G>T (p.Cys65Phe)	NOTCH3 (C65F)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 932099	NM_000435.3(NOTCH3):c.1952-6C>T	NOTCH3	Single nucleotide variant (intron variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 931975	NM_000435.3(NOTCH3):c.679+15C>T	NOTCH3	Single nucleotide variant (intron variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 931896	NM_000435.3(NOTCH3):c.955G>C (p.Ala319Pro)	NOTCH3 (A319P)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 931813	NM_000435.3(NOTCH3):c.6217G>C (p.Gly2073Arg)	NOTCH3 (G2073R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 931730	NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)	NOTCH3 (R1262L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 930703	NM_000435.3(NOTCH3):c.1531T>G (p.Cys511Gly)	NOTCH3 (C511G)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GPathogenic
Select item 930494	NM_000435.3(NOTCH3):c.3734C>G (p.Thr1245Ser)	NOTCH3 (T1245S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance
Select item 930407	NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys)	NOTCH3 (G289C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 892160	NM_000435.3(NOTCH3):c.120C>T (p.Ala40=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 892159	NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly)	NOTCH3 (S47G)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 892158	NM_000435.3(NOTCH3):c.415G>A (p.Asp139Asn)	NOTCH3 (D139N)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GLikely benign
Select item 892110	NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 892109	NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met)	NOTCH3 (V523M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 892108	NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe)	NOTCH3 (S550F)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	GUncertain significance

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