"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NOTCH3"[gene] - ClinVar

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328371	NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu)	NOTCH3 (P2204L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2053622	NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln)	NOTCH3 (R2078Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2684142	NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)	NOTCH3 (A1913V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683482	NM_000435.3(NOTCH3):c.5723C>T (p.Thr1908Met)	NOTCH3 (T1908M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889552	NM_000435.3(NOTCH3):c.5684G>A (p.Arg1895His)	NOTCH3 (R1895H)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 1163128	NM_000435.3(NOTCH3):c.5281C>T (p.Arg1761Cys)	NOTCH3 (R1761C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163129	NM_000435.3(NOTCH3):c.5258A>G (p.His1753Arg)	NOTCH3 (H1753R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380590	NM_000435.3(NOTCH3):c.4885G>T (p.Val1629Leu)	NOTCH3 (V1629L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163130	NM_000435.3(NOTCH3):c.4826A>T (p.Asp1609Val)	NOTCH3 (D1609V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380591	NM_000435.3(NOTCH3):c.4334C>T (p.Ala1445Val)	NOTCH3 (A1445V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683483	NM_000435.3(NOTCH3):c.4018G>A (p.Ala1340Thr)	NOTCH3 (A1340T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678475	NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr)	NOTCH3 (C1315Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 987267	NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe)	NOTCH3 (C1298F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 216972	NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	NOTCH3 (R1231C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 425164	NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)	NOTCH3 (C1222G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2683484	NM_000435.3(NOTCH3):c.3568C>T (p.Arg1190Cys)	NOTCH3 (R1190C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804632	NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)	NOTCH3 (R1143C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 3380592	NM_000435.3(NOTCH3):c.3375G>C (p.Glu1125Asp)	NOTCH3 (E1125D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447834	NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)	NOTCH3 (C1119Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1163131	NM_000435.3(NOTCH3):c.3305A>T (p.Tyr1102Phe)	NOTCH3 (Y1102F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419978	NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)	NOTCH3 (C1061Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1163132	NM_000435.3(NOTCH3):c.3173G>T (p.Gly1058Val)	NOTCH3 (G1058V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447827	NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)	NOTCH3 (R1031C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 447825	NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	NOTCH3 (Y1021C)	Single nucleotide variant (missense variant)	NOTCH3-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3380912	NM_000435.3(NOTCH3):c.3045C>G (p.Cys1015Trp)	NOTCH3 (C1015W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 447819	NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys)	NOTCH3 (R985C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3380593	NM_000435.3(NOTCH3):c.2894C>G (p.Pro965Arg)	NOTCH3 (P965R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807372	NM_000435.3(NOTCH3):c.2660A>C (p.Asp887Ala)	NOTCH3 (D887A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380594	NM_000435.3(NOTCH3):c.2632G>A (p.Gly878Ser)	NOTCH3 (G878S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 890311	NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala)	NOTCH3 (P819A)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GUncertain significance
Select item 3380595	NM_000435.3(NOTCH3):c.2398dup (p.Gln800fs)	NOTCH3 (Q800fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1162835	NM_000435.3(NOTCH3):c.2296+3G>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 804628	NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)	NOTCH3 (R717C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 870211	NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys)	NOTCH3 (R640C)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 447798	NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)	NOTCH3 (R592S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3380913	NM_000435.3(NOTCH3):c.1720_1755delinsCTG (p.Tyr574_Glu585delinsLeu)	NOTCH3	Indel (inframe_indel)	not provided	GLikely pathogenic
Select item 808496	NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)	NOTCH3 (R578C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 328409	NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr)	NOTCH3 (A564T)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 546089	NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	NOTCH3 (R544C)	Single nucleotide variant (missense variant)	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy +4 more	GPathogenic/Likely pathogenic
Select item 803540	NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)	NOTCH3 (R532C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 892109	NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met)	NOTCH3 (V523M)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GConflicting classifications of pathogenicity
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 3380914	NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)	NOTCH3 (C511R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1420792	NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly)	NOTCH3 (V488G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380915	NM_000435.3(NOTCH3):c.1370G>C (p.Cys457Ser)	NOTCH3 (C457S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 447784	NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)	NOTCH3 (C455Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 585591	NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr)	NOTCH3 (C428Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1468262	NM_000435.3(NOTCH3):c.1277C>T (p.Pro426Leu)	NOTCH3 (P426L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175409	NM_000435.3(NOTCH3):c.1182G>T (p.Glu394Asp)	NOTCH3 (E394D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683485	NM_000435.3(NOTCH3):c.1026G>A (p.Met342Ile)	NOTCH3 (M342I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162836	NM_000435.3(NOTCH3):c.1003T>G (p.Ser335Ala)	NOTCH3 (S335A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 9224	NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys)	NOTCH3 (R332C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GPathogenic
Select item 1807373	NM_000435.3(NOTCH3):c.976G>A (p.Gly326Arg)	NOTCH3 (G326R)	Single nucleotide variant (missense variant)	not provided	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 447867	NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)	NOTCH3 (C222Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 447862	NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	NOTCH3 (R207C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1256530	NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr)	NOTCH3 (C194Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 585611	NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser)	NOTCH3 (C194S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 585609	NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg)	NOTCH3 (C185R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9220	NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)	NOTCH3 (R182C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic
Select item 9219	NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	NOTCH3 (R169C)	Single nucleotide variant (missense variant)	NOTCH3-related disorder +4 more	GPathogenic
Select item 804638	NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln)	NOTCH3 (R163Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2683096	NM_000435.3(NOTCH3):c.484T>G (p.Cys162Gly)	NOTCH3 (C162G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 447846	NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	NOTCH3 (R141C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 9225	NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	NOTCH3 (R133C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 447831	NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	NOTCH3 (R110C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1807362	NM_000435.3(NOTCH3):c.278G>A (p.Cys93Tyr)	NOTCH3 (C93Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 447816	NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys)	NOTCH3 (R90C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 993546	NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)	NOTCH3 (D80G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1256497	NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys)	NOTCH3	Duplication (inframe_insertion)	not provided	GPathogenic/Likely pathogenic
Select item 1807353	NM_000435.3(NOTCH3):c.213G>C (p.Trp71Cys)	NOTCH3 (W71C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 447803	NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)	NOTCH3 (C65S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 447788	NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg)	NOTCH3 (G52R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 585596	NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)	NOTCH3 (C49G)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 447782	NM_000435.3(NOTCH3):c.133G>C (p.Asp45His)	NOTCH3 (D45H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805477	NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)	NOTCH3 (P21S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GUncertain significance

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Items: 78