"Ambry Genetics"[submitter] AND "LOC129930195"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2334357	NM_024595.3(AKIRIN1):c.47C>T (p.Ala16Val)	AKIRIN1, LOC129930195 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375879	NM_024595.3(AKIRIN1):c.97G>A (p.Gly33Ser)	AKIRIN1, LOC129930195 (G33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329233	NM_024595.3(AKIRIN1):c.100C>T (p.Pro34Ser)	AKIRIN1, LOC129930195 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282425	NM_024595.3(AKIRIN1):c.103A>T (p.Thr35Ser)	AKIRIN1, LOC129930195 (T35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245771	NM_024595.3(AKIRIN1):c.116G>C (p.Arg39Thr)	AKIRIN1, LOC129930195 (R39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107024	NM_024595.3(AKIRIN1):c.134C>T (p.Pro45Leu)	AKIRIN1, LOC129930195 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107026	NM_024595.3(AKIRIN1):c.158C>A (p.Thr53Asn)	AKIRIN1, LOC129930195 (T53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373695	NM_024595.3(AKIRIN1):c.172C>G (p.Leu58Val)	AKIRIN1, LOC129930195 (L58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar