"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 808495	NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys)	NOTCH3 (R592C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 447794	NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	NOTCH3 (R558C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 810779	NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)	NOTCH3 (R427C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic/Likely 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 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 9220	NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys)	NOTCH3 (R182C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9219	NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)	NOTCH3 (R169C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +4 more	GPathogenic
Select item 447851	NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn)	NOTCH3 (D158N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 9225	NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)	NOTCH3 (R133C)	Single nucleotide variant (missense variant)	Recurrent subcortical infarcts +5 more	GPathogenic/Likely pathogenic
Select item 447831	NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	NOTCH3 (R110C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 447803	NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)	NOTCH3 (C65S)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 447791	NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys)	NOTCH3 (R54C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic