"Ambry Genetics"[submitter] AND "LOC130058534"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2589534	NM_018340.3(CPPED1):c.67G>T (p.Ala23Ser)	CPPED1, LOC130058534 (A23S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206291	NM_018340.3(CPPED1):c.59C>G (p.Ala20Gly)	CPPED1, LOC130058534 (A20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269254	NM_018340.3(CPPED1):c.53T>C (p.Leu18Pro)	CPPED1, LOC130058534 (L18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622290	NM_018340.3(CPPED1):c.48G>C (p.Arg16Ser)	CPPED1, LOC130058534 (R16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364956	NM_018340.3(CPPED1):c.25G>C (p.Val9Leu)	CPPED1, LOC130058534 (V9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391701	NM_018340.3(CPPED1):c.8C>T (p.Ala3Val)	CPPED1, LOC130058534 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar