C5562068[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334778	NM_152713.5(STT3A):c.137A>G (p.His46Arg)	STT3A (H46R)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1334779	NM_152713.5(STT3A):c.479G>A (p.Arg160Gln)	STT3A (R160Q +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1334782	NM_152713.5(STT3A):c.985C>T (p.Arg329Cys)	STT3A (R329C +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance
Select item 1334780	NM_152713.5(STT3A):c.1213C>T (p.Arg405Cys)	STT3A (R405C +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GPathogenic
Select item 1334781	NM_152713.5(STT3A):c.1214G>A (p.Arg405His)	STT3A (R405H +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GLikely pathogenic
Select item 1334777	NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser)	STT3A (Y530S +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance
Select item 1334776	NM_152713.5(STT3A):c.1637C>T (p.Thr546Ile)	STT3A (T546I +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type Iw, autosomal dominant	GUncertain significance