ClinVar for MedGen (Select 342070) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2581716	NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)	NOTCH3 (L2137fs)	Microsatellite (frameshift variant)	Lateral meningocele syndrome +2 more	GLikely pathogenic
Select item 1807354	NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)	NOTCH3 (G1058C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1805968	NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)	NOTCH3 (L2137fs)	Microsatellite (frameshift variant)	Lateral meningocele syndrome	GPathogenic/Likely pathogenic
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 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 1653964	NM_000435.3(NOTCH3):c.2410+15dup	NOTCH3	Duplication (intron variant)	Lateral meningocele syndrome +3 more	GLikely benign
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 1319920	NM_000435.3(NOTCH3):c.4562C>G (p.Pro1521Arg)	NOTCH3 (P1521R)	Single nucleotide variant (missense variant)	Lateral meningocele syndrome	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 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)	not specified +3 more	GLikely benign
Select item 1256515	NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu)	NOTCH3 (P120L)	Single nucleotide variant (missense variant)	Lateral meningocele syndrome +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 890873	NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu)	NOTCH3 (P684L)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +3 more	GConflicting classifications of pathogenicity
Select item 890786	NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)	NOTCH3	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 890686	NM_000435.3(NOTCH3):c.*306C>T	NOTCH3	Single nucleotide variant (3 prime UTR variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GUncertain significance
Select item 811011	NM_000435.3(NOTCH3):c.5913+28T>G	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	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 811009	NM_000435.3(NOTCH3):c.2792+21G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 811008	NM_000435.3(NOTCH3):c.5363-21G>A	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 811007	NM_000435.3(NOTCH3):c.4892-22G>T	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 811005	NM_000435.3(NOTCH3):c.3837+21T>A	NOTCH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 810777	NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)	NOTCH3 (R449C)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +3 more	GLikely pathogenic
Select item 808492	NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His)	NOTCH3 (R1076H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 808490	NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp)	NOTCH3 (R2207W)	Single nucleotide variant (missense variant)	NOTCH3-related condition +5 more	GConflicting classifications of pathogenicity
Select item 804650	NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)	NOTCH3 (R2174Q)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more	GUncertain significance
Select item 790468	NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=)	NOTCH3	Single nucleotide variant (synonymous variant)	NOTCH3-related condition +4 more	GLikely benign
Select item 773982	NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His)	NOTCH3 (R1231H)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more	GLikely benign
Select item 772634	NM_000435.3(NOTCH3):c.3328-8C>A	NOTCH3	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 772226	NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more	GLikely benign
Select item 767149	NM_000435.3(NOTCH3):c.135C>T (p.Asp45=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 719107	NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=)	NOTCH3	Single nucleotide variant (synonymous variant)	Myofibromatosis, infantile, 2 +3 more	GLikely benign
Select item 694718	NM_000435.3(NOTCH3):c.6626dup (p.Pro2210fs)	NOTCH3 (P2210fs)	Duplication (frameshift variant)	Lateral meningocele syndrome	GPathogenic
Select item 591577	NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)	NOTCH3 (R13del)	Microsatellite (inframe_deletion)	NOTCH3-related condition +3 more	GUncertain significance
Select item 585596	NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly)	NOTCH3 (C49G)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +3 more	GPathogenic
Select item 546089	NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	NOTCH3 (R544C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 447862	NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	NOTCH3 (R207C)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +3 more	GConflicting classifications of pathogenicity
Select item 447849	NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr)	NOTCH3 (C146Y)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +3 more	GPathogenic
Select item 447846	NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys)	NOTCH3 (R141C)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +4 more	GPathogenic
Select item 447832	NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)	NOTCH3 (C1099Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more	GPathogenic/Likely pathogenic
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 447794	NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	NOTCH3 (R558C)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 2 +5 more	GPathogenic/Likely pathogenic
Select item 374637	NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)	NOTCH3 (R607C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 328418	NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)	NOTCH3 (H170R)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +5 more	GBenign/Likely benign
Select item 328417	NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +3 more	GBenign/Likely benign
Select item 328416	NM_000435.3(NOTCH3):c.825G>A (p.Val275=)	NOTCH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 256148	NM_000435.3(NOTCH3):c.606A>G (p.Ala202=)	NOTCH3	Single nucleotide variant (synonymous variant)	Lateral meningocele syndrome +3 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 256141	NM_000435.3(NOTCH3):c.5363-17C>T	NOTCH3	Single nucleotide variant (intron variant)	Lateral meningocele syndrome +3 more	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 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 256131	NM_000435.3(NOTCH3):c.303C>T (p.Thr101=)	NOTCH3	Single nucleotide variant (synonymous variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 256130	NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=)	NOTCH3	Single nucleotide variant (synonymous variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 256129	NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=)	NOTCH3	Single nucleotide variant (synonymous variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 256128	NM_000435.3(NOTCH3):c.2411-4C>G	NOTCH3	Single nucleotide variant (intron variant)	NOTCH3-related condition +4 more	GBenign/Likely benign
Select item 256127	NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His)	NOTCH3 (R767H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 256126	NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GBenign/Likely benign
Select item 256125	NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His)	NOTCH3 (R680H)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GBenign/Likely benign
Select item 256123	NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=)	NOTCH3	Single nucleotide variant (synonymous variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GBenign/Likely benign
Select item 256121	NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)	NOTCH3 (S497L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GBenign/Likely benign
Select item 256120	NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)	NOTCH3 (P496L)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GBenign/Likely benign
Select item 256118	NM_000435.3(NOTCH3):c.1192+15A>G	NOTCH3	Single nucleotide variant (intron variant)	Lateral meningocele syndrome +3 more	GBenign
Select item 236550	NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs)	NOTCH3 (A2167fs)	Deletion (frameshift variant)	Lateral meningocele syndrome	Gnot provided
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 224882	NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)	NOTCH3 (Y2244*)	Single nucleotide variant (nonsense)	Lateral meningocele syndrome	GPathogenic
Select item 224881	NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)	NOTCH3 (A2233fs)	Duplication (frameshift variant)	Lateral meningocele syndrome +1 more	GPathogenic
Select item 224880	NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)	NOTCH3 (G2154fs)	Deletion (frameshift variant)	Lateral meningocele syndrome	GPathogenic
Select item 208069	NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)	NOTCH3 (K2083*)	Single nucleotide variant (nonsense)	Lateral meningocele syndrome	GPathogenic
Select item 101050	NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)	NOTCH3 (Q151E)	Single nucleotide variant (missense variant)	Lateral meningocele syndrome +3 more	GUncertain significance
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 9225	NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	NOTCH3 (R133C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 9219	NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	NOTCH3 (R169C)	Single nucleotide variant (missense variant)	NOTCH3-related condition +4 more	GPathogenic

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Items: 81