"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC44A1"[ - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039509	NM_080546.5(SLC44A1):c.330A>G (p.Val110=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GLikely benign
Select item 3044954	NM_080546.5(SLC44A1):c.670+9T>C	SLC44A1	Single nucleotide variant (intron variant)	SLC44A1-related disorder	GBenign
Select item 3053180	NM_080546.5(SLC44A1):c.673C>T (p.Leu225=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GLikely benign
Select item 3043289	NM_080546.5(SLC44A1):c.954C>A (p.Ile318=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GBenign
Select item 3039675	NM_080546.5(SLC44A1):c.966C>T (p.His322=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GBenign
Select item 3037620	NM_080546.5(SLC44A1):c.1554C>T (p.Ala518=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GLikely benign
Select item 3045943	NM_080546.5(SLC44A1):c.1701A>G (p.Val567=)	SLC44A1	Single nucleotide variant (synonymous variant)	SLC44A1-related disorder	GBenign
Select item 3057187	NM_080546.5(SLC44A1):c.1930T>G (p.Ser644Ala)	SLC44A1 (S644A)	Single nucleotide variant (missense variant)	SLC44A1-related disorder	GBenign
Select item 3059918	NM_080546.5(SLC44A1):c.*862G>A	SLC44A1	Single nucleotide variant (3 prime UTR variant +1 more)	SLC44A1-related disorder	GBenign