"Ambry Genetics"[submitter] AND "LOC122757966"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2210627	NM_152792.4(ASPRV1):c.-126G>A	ASPRV1, LOC122757966 (A43T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3318772	NM_152792.4(ASPRV1):c.-152C>T	ASPRV1, LOC122757966	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 161818	NM_152792.4(ASPRV1):c.-158C>T	LOC122757966, ASPRV1 (P32L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130512	NM_152792.4(ASPRV1):c.-161A>T	ASPRV1, LOC122757966 (Q31L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3130509	NM_152792.3(ASPRV1):c.23T>C (p.Leu8Pro)	ASPRV1, LOC122757966 (L8P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316322	NM_152792.3(ASPRV1):c.20G>A (p.Ser7Asn)	ASPRV1, LOC122757966 (S7N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar