"Ambry Genetics"[submitter] AND "SLC8A1-AS1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2320650	NM_021097.5(SLC8A1):c.2891T>C (p.Leu964Pro)	SLC8A1-AS1, SLC8A1 (L929P +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363857	NM_021097.5(SLC8A1):c.2846G>T (p.Cys949Phe)	SLC8A1, SLC8A1-AS1 (C936F +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344243	NM_021097.5(SLC8A1):c.2821C>T (p.Arg941Trp)	SLC8A1-AS1, SLC8A1 (R905W +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349241	NM_021097.5(SLC8A1):c.2708C>T (p.Ser903Phe)	SLC8A1-AS1, SLC8A1 (S890F +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483476	NM_021097.5(SLC8A1):c.2687A>T (p.Asn896Ile)	SLC8A1, SLC8A1-AS1 (N888I +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523895	NM_021097.5(SLC8A1):c.2584T>C (p.Tyr862His)	SLC8A1, SLC8A1-AS1 (Y827H +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465356	NM_021097.5(SLC8A1):c.2472C>G (p.His824Gln)	SLC8A1-AS1, SLC8A1 (H789Q +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245476	NM_021097.5(SLC8A1):c.2283C>G (p.Asp761Glu)	SLC8A1-AS1, SLC8A1 (D726E +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406541	NM_021097.5(SLC8A1):c.2254A>G (p.Ile752Val)	SLC8A1, SLC8A1-AS1 (I716V +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253142	NM_021097.5(SLC8A1):c.2089C>T (p.Arg697Cys)	SLC8A1, SLC8A1-AS1 (R668C +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617136	NM_021097.5(SLC8A1):c.1899G>C (p.Glu633Asp)	SLC8A1, SLC8A1-AS1 (E633D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance