"Ambry Genetics"[submitter] AND "LOC129999763"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2459787	NM_001367773.1(ESYT2):c.14G>A (p.Arg5Gln)	ESYT2, LOC129999763 (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355708	NM_001367773.1(ESYT2):c.-55C>G	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2515893	NM_001367773.1(ESYT2):c.-84C>T	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2273423	NM_001367773.1(ESYT2):c.-87G>C	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2616279	NM_001367773.1(ESYT2):c.-90G>C	ESYT2, LOC129999763	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2347637	NM_020728.2(ESYT2):c.46G>A (p.Val16Ile)	ESYT2, LOC129999763 (V16I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542670	NM_020728.2(ESYT2):c.26C>A (p.Ala9Glu)	ESYT2, LOC129999763 (A9E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542669	NM_020728.2(ESYT2):c.25G>A (p.Ala9Thr)	ESYT2, LOC129999763 (A9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar