ClinVar Miner

List of variants reported as uncertain significance for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (10):

Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CARASIL syndrome
CARASIL syndrome; Age related macular degeneration 7; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Sneddon syndrome; Myofibromatosis, infantile, 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Vascular dementia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu)	rs143684274	0.00008
NM_000435.3(NOTCH3):c.6217G>C (p.Gly2073Arg)	rs1250159597	0.00001
NM_000435.3(NOTCH3):c.1952-6C>T	rs2046876259
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288
NM_000435.3(NOTCH3):c.3734C>G (p.Thr1245Ser)	rs2046814915
NM_000435.3(NOTCH3):c.679+15C>T	rs759323108
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys)	rs1253499013
NM_000435.3(NOTCH3):c.955G>C (p.Ala319Pro)	rs2046926428

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