"Ambry Genetics"[submitter] AND "LOC129933655"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1756591	NM_001430.5(EPAS1):c.6A>G (p.Thr2=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1756589	NM_001430.5(EPAS1):c.6A>C (p.Thr2=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1761597	NM_001430.5(EPAS1):c.7G>A (p.Ala3Thr)	EPAS1, LOC129933655 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1768953	NM_001430.5(EPAS1):c.9T>G (p.Ala3=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773971	NM_001430.5(EPAS1):c.14A>G (p.Lys5Arg)	EPAS1, LOC129933655 (K5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776151	NM_001430.5(EPAS1):c.15G>A (p.Lys5=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221570	NM_001430.5(EPAS1):c.16G>A (p.Glu6Lys)	EPAS1, LOC129933655 (E6K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275677	NM_001430.5(EPAS1):c.21G>C (p.Lys7Asn)	EPAS1, LOC129933655 (K7N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787601	NM_001430.5(EPAS1):c.21G>A (p.Lys7=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1792196	NM_001430.5(EPAS1):c.24A>G (p.Lys8=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign