"Ambry Genetics"[submitter] AND "ST8SIA6"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2559041	NM_001004470.3(ST8SIA6):c.1149C>A (p.His383Gln)	ST8SIA6 (H232Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210970	NM_001004470.3(ST8SIA6):c.1012G>A (p.Val338Met)	ST8SIA6 (V338M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323052	NM_001004470.3(ST8SIA6):c.1008A>C (p.Lys336Asn)	ST8SIA6 (K185N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333668	NM_001004470.3(ST8SIA6):c.970G>A (p.Gly324Ser)	ST8SIA6 (G173S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532931	NM_001004470.3(ST8SIA6):c.943G>A (p.Gly315Ser)	ST8SIA6 (G164S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546396	NM_001004470.3(ST8SIA6):c.906G>T (p.Lys302Asn)	ST8SIA6 (K151N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347797	NM_001004470.3(ST8SIA6):c.890T>A (p.Leu297Gln)	ST8SIA6 (L297Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407982	NM_001004470.3(ST8SIA6):c.502A>G (p.Ile168Val)	ST8SIA6 (I168V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507868	NM_001004470.3(ST8SIA6):c.224T>G (p.Leu75Arg)	ST8SIA6, ST8SIA6-AS1 (L75R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2592456	NM_001004470.3(ST8SIA6):c.212A>C (p.Asn71Thr)	ST8SIA6, ST8SIA6-AS1 (N71T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance