"Invitae"[submitter] AND "LOC130056398"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2892751	NM_152327.5(AK7):c.7G>A (p.Glu3Lys)	AK7, LOC130056398 (E3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777289	NM_152327.5(AK7):c.22G>C (p.Ala8Pro)	AK7, LOC130056398 (A8P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993685	NM_152327.5(AK7):c.25G>C (p.Ala9Pro)	AK7, LOC130056398 (A9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1959677	NM_152327.5(AK7):c.30C>T (p.Leu10=)	AK7, LOC130056398	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585993	NM_152327.5(AK7):c.30C>G (p.Leu10=)	AK7, LOC130056398	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939611	NM_152327.5(AK7):c.33G>C (p.Thr11=)	AK7, LOC130056398	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar