"GeneDx"[submitter] AND "NOTCH3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152788	GRCh38/hg38 19p13.12(chr19:15112168-15191333)x1	ILVBL, ILVBL-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 328369	NM_000435.3(NOTCH3):c.*96C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 256153	NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 224881	NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)	NOTCH3 (A2233fs)	Duplication (frameshift variant)	Lateral meningocele syndrome +1 more	GPathogenic
Select item 504302	NM_000435.3(NOTCH3):c.6692del (p.Pro2231fs)	NOTCH3 (P2231fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 256152	NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val)	NOTCH3 (A2223V)	Single nucleotide variant (missense variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 224883	NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)	NOTCH3 (Y2221*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 372434	NM_000435.3(NOTCH3):c.6633C>G (p.Tyr2211Ter)	NOTCH3 (Y2211*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 817256	NM_000435.3(NOTCH3):c.6560_6563dup (p.Leu2189fs)	NOTCH3 (L2189fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 503858	NM_000435.3(NOTCH3):c.6508dup (p.Leu2170fs)	NOTCH3 (L2170fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1311012	NM_000435.3(NOTCH3):c.6443T>G (p.Leu2148Arg)	NOTCH3 (L2148R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256151	NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1313464	NM_000435.3(NOTCH3):c.6269del (p.Gly2090fs)	NOTCH3 (G2090fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 256150	NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu)	NOTCH3 (P2074L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1304924	NM_000435.3(NOTCH3):c.6130T>C (p.Cys2044Arg)	NOTCH3 (C2044R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256149	NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 420199	NM_000435.3(NOTCH3):c.5926dup (p.Leu1976fs)	NOTCH3 (L1976fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1311137	NM_000435.3(NOTCH3):c.5914G>A (p.Glu1972Lys)	NOTCH3 (E1972K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327205	NM_000435.3(NOTCH3):c.5914-128G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302865	NM_000435.3(NOTCH3):c.5914-208C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264607	NM_000435.3(NOTCH3):c.5914-287_5914-286dup	NOTCH3	Duplication (intron variant)	not provided	GBenign
Select item 1224170	NM_000435.3(NOTCH3):c.5914-287_5914-285dup	NOTCH3	Duplication (intron variant)	not provided	GBenign
Select item 1253744	NM_000435.3(NOTCH3):c.5914-269del	NOTCH3	Deletion (intron variant)	not provided	GBenign
Select item 1238660	NM_000435.3(NOTCH3):c.5913+229G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	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 1229369	NM_000435.3(NOTCH3):c.5913+45T>C	NOTCH3	Single nucleotide variant (intron variant)	Lateral meningocele syndrome +2 more	GBenign
Select item 811011	NM_000435.3(NOTCH3):c.5913+28T>G	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 256146	NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)	NOTCH3 (V1952M)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GBenign/Likely benign
Select item 256145	NM_000435.3(NOTCH3):c.5816-8T>C	NOTCH3	Single nucleotide variant (intron variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 1335848	NM_000435.3(NOTCH3):c.5816-51G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229338	NM_000435.3(NOTCH3):c.5816-211_5816-204del	NOTCH3	Deletion (intron variant)	not provided	GBenign
Select item 1234752	NM_000435.3(NOTCH3):c.5816-232_5816-223del	NOTCH3	Deletion (intron variant)	not provided	GBenign
Select item 1250126	NM_000435.3(NOTCH3):c.5816-232_5816-229del	NOTCH3	Microsatellite (intron variant)	not provided	GBenign
Select item 1248981	NM_000435.3(NOTCH3):c.5816-251A>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242056	NM_000435.3(NOTCH3):c.5815+172G>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269136	NM_000435.3(NOTCH3):c.5815+124G>C	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811010	NM_000435.3(NOTCH3):c.5815+36G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 256144	NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2579563	NM_000435.3(NOTCH3):c.5399G>C (p.Gly1800Ala)	NOTCH3 (G1800A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426222	NM_000435.3(NOTCH3):c.5366G>A (p.Gly1789Asp)	NOTCH3 (G1789D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278713	NM_000435.3(NOTCH3):c.5363-104A>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223898	NM_000435.3(NOTCH3):c.5363-107G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261788	NM_000435.3(NOTCH3):c.5363-108T>C	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278738	NM_000435.3(NOTCH3):c.5363-125C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229526	NM_000435.3(NOTCH3):c.5363-297G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231824	NM_000435.3(NOTCH3):c.5362+294_5362+295insC	NOTCH3	Insertion (intron variant)	not provided	GBenign
Select item 1227852	NM_000435.3(NOTCH3):c.5362+290T>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288905	NM_000435.3(NOTCH3):c.5362+168A>C	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250996	NM_000435.3(NOTCH3):c.5362+122G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256140	NM_000435.3(NOTCH3):c.5362+3T>C	NOTCH3	Single nucleotide variant (intron variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 2663526	NM_000435.3(NOTCH3):c.5354G>C (p.Arg1785Pro)	NOTCH3 (R1785P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241328	NM_000435.3(NOTCH3):c.5200-155_5200-152dup	NOTCH3	Duplication (intron variant)	not provided	GBenign
Select item 1266675	NM_000435.3(NOTCH3):c.5200-297C>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252632	NM_000435.3(NOTCH3):c.5200-297C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273653	NM_000435.3(NOTCH3):c.5199+221C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277007	NM_000435.3(NOTCH3):c.5199+132T>C	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305438	NM_000435.3(NOTCH3):c.5136C>G (p.Ser1712Arg)	NOTCH3 (S1712R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811007	NM_000435.3(NOTCH3):c.4892-22G>T	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 811016	NM_000435.3(NOTCH3):c.4891+23G>C	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2577765	NM_000435.3(NOTCH3):c.4868C>G (p.Pro1623Arg)	NOTCH3 (P1623R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258829	NM_000435.3(NOTCH3):c.4736+290C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264454	NM_000435.3(NOTCH3):c.4736+284C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246389	NM_000435.3(NOTCH3):c.4736+268T>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256139	NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro)	NOTCH3 (R1560P)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GBenign/Likely benign
Select item 256138	NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=)	NOTCH3	Single nucleotide variant (synonymous variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 256137	NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)	NOTCH3 (L1518M)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GBenign/Likely benign
Select item 1264058	NM_000435.3(NOTCH3):c.4404-61A>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334360	NM_000435.3(NOTCH3):c.4404-73G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1700316	NM_000435.3(NOTCH3):c.4404-172dup	NOTCH3	Duplication (intron variant)	not provided	GLikely benign
Select item 1687679	NM_000435.3(NOTCH3):c.4404-172del	NOTCH3	Deletion (intron variant)	not provided	GLikely benign
Select item 1328901	NM_000435.3(NOTCH3):c.4404-173_4404-172del	NOTCH3	Deletion (intron variant)	not provided	GLikely benign
Select item 1281476	NM_000435.3(NOTCH3):c.4404-175_4404-172del	NOTCH3	Deletion (intron variant)	not provided	GBenign
Select item 1273941	NM_000435.3(NOTCH3):c.4404-176_4404-172del	NOTCH3	Deletion (intron variant)	not provided	GBenign
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 1700738	NM_000435.3(NOTCH3):c.4111C>G (p.Arg1371Gly)	NOTCH3 (R1371G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256135	NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1691579	NM_000435.3(NOTCH3):c.3946C>T (p.Pro1316Ser)	NOTCH3 (P1316S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811005	NM_000435.3(NOTCH3):c.3837+21T>A	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 328392	NM_000435.3(NOTCH3):c.3719-11C>T	NOTCH3	Single nucleotide variant (intron variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GBenign/Likely benign
Select item 216972	NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	NOTCH3 (R1231C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 256133	NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met)	NOTCH3 (V1183M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1696889	NM_000435.3(NOTCH3):c.3463G>T (p.Val1155Leu)	NOTCH3 (V1155L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 811006	NM_000435.3(NOTCH3):c.3461-32C>T	MIR6795, NOTCH3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 451592	NM_000435.3(NOTCH3):c.3401G>A (p.Gly1134Glu)	NOTCH3 (G1134E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 256132	NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)	NOTCH3 (H1133Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 373568	NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr)	NOTCH3 (N1118Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1276480	NM_000435.3(NOTCH3):c.3328-105C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526335	NM_000435.3(NOTCH3):c.3328-184C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1157140	NM_000435.3(NOTCH3):c.3299G>A (p.Arg1100His)	NOTCH3 (R1100H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 811020	NM_000435.3(NOTCH3):c.3143-29C>T	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307983	NM_000435.3(NOTCH3):c.3061dup (p.Tyr1021fs)	NOTCH3 (Y1021fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 447825	NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	NOTCH3 (Y1021C)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 9227	NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)	NOTCH3 (A1020P)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GBenign
Select item 1225176	NM_000435.3(NOTCH3):c.2995-60A>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1335847	NM_000435.3(NOTCH3):c.2994+57G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450321	NM_000435.3(NOTCH3):c.2840G>C (p.Ser947Thr)	NOTCH3 (S947T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307484	NM_000435.3(NOTCH3):c.2822A>T (p.Asp941Val)	NOTCH3 (D941V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261958	NM_000435.3(NOTCH3):c.2793-115C>G	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250678	NM_000435.3(NOTCH3):c.2792+116G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided	GBenign

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