"Ambry Genetics"[submitter] AND "LOC129996013"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283257	NM_005319.4(H1-2):c.428G>C (p.Gly143Ala)	H1-2, LOC129996013 (G143A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103489	NM_005319.4(H1-2):c.417G>C (p.Lys139Asn)	H1-2, LOC129996013 (K139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103488	NM_005319.4(H1-2):c.416A>G (p.Lys139Arg)	H1-2, LOC129996013 (K139R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600421	NM_005319.4(H1-2):c.407A>G (p.Lys136Arg)	H1-2, LOC129996013 (K136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103487	NM_005319.4(H1-2):c.406A>C (p.Lys136Gln)	H1-2, LOC129996013 (K136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103486	NM_005319.4(H1-2):c.403G>C (p.Ala135Pro)	H1-2, LOC129996013 (A135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar