"Ambry Genetics"[submitter] AND "LOC130003071"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316142	NM_178448.4(SAPCD2):c.473C>T (p.Pro158Leu)	LOC130003071, SAPCD2 (P158L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3316148	NM_178448.4(SAPCD2):c.442C>G (p.Leu148Val)	LOC130003071, SAPCD2 (L148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616864	NM_178448.4(SAPCD2):c.433C>T (p.Arg145Cys)	LOC130003071, SAPCD2 (R145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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