"Taipei Veterans General Hospital, Neurological Institute"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523572	NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp)	HTRA1 (G120D)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GLikely pathogenic
Select item 523573	NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn)	HTRA1 (I179N)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GLikely pathogenic
Select item 523574	NM_002775.5(HTRA1):c.543del (p.Ala182fs)	HTRA1 (A182fs)	Deletion (frameshift variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 +1 more	GPathogenic
Select item 523575	NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr)	HTRA1 (I256T)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GPathogenic
Select item 523576	NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala)	HTRA1 (G276A)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GLikely pathogenic
Select item 523577	NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter)	HTRA1 (Q289*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 523578	NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr)	HTRA1 (N324T)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	GLikely pathogenic