"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 447830	NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)	NOTCH3 (R1076C)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GPathogenic/Likely pathogenic
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 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 523370	NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)	NOTCH3 (C484G)	Single nucleotide variant (missense variant)	Migraine +3 more	GLikely pathogenic
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 546834	NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe)	NOTCH3 (C311F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 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 208501	NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)	NOTCH3 (R153C)	Single nucleotide variant (missense variant)	Transient ischemic attack +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