ClinVar for MedGen (Select 1390862) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1391941	NM_024928.5(STN1):c.398G>A (p.Arg133Gln)	STN1 (R133Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1169388	NM_024928.5(STN1):c.451A>G (p.Thr151Ala)	STN1 (T151A)	Single nucleotide variant (missense variant)	Cerebroretinal microangiopathy with calcifications and cysts 2 +1 more	GBenign
Select item 1169156	NM_024928.5(STN1):c.696G>C (p.Val232=)	STN1	Single nucleotide variant (synonymous variant)	Cerebroretinal microangiopathy with calcifications and cysts 2 +1 more	GBenign
Select item 1169155	NM_024928.5(STN1):c.743C>G (p.Ser248Cys)	STN1 (S248C)	Single nucleotide variant (missense variant)	Cerebroretinal microangiopathy with calcifications and cysts 2 +1 more	GBenign
Select item 1028354	NM_024928.5(STN1):c.1100C>T (p.Ala367Val)	STN1 (A367V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 768387	NM_024928.5(STN1):c.582-4G>A	STN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 728880	NM_024928.5(STN1):c.793A>C (p.Ser265Arg)	STN1 (S265R)	Single nucleotide variant (missense variant)	STN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 375592	NM_024928.5(STN1):c.469G>T (p.Asp157Tyr)	STN1 (D157Y)	Single nucleotide variant (missense variant)	Cerebroretinal microangiopathy with calcifications and cysts 2	GPathogenic
Select item 375591	NM_024928.5(STN1):c.404G>C (p.Arg135Thr)	STN1 (R135T)	Single nucleotide variant (missense variant)	Cerebroretinal microangiopathy with calcifications and cysts 2	GPathogenic