Related gene-specific medical variations for Gene (Select 101927479) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2514578	NM_004431.5(EPHA2):c.7C>T (p.Leu3Phe)	EPHA2, EPHA2-AS1 (L3F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224375	NM_004431.5(EPHA2):c.40T>G (p.Trp14Gly)	EPHA2-AS1, EPHA2 (W14G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1341682	NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter)	EPHA2, EPHA2-AS1 (W14*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract +2 more	GPathogenic
Select item 1216566	NM_004431.5(EPHA2):c.85+173G>C	EPHA2, EPHA2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 634591	NM_004431.5(EPHA2):c.77G>T (p.Gly26Val)	EPHA2, EPHA2-AS1 (G26V)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 6 multiple types	GUncertain significance
Select item 293451	NM_004431.5(EPHA2):c.-81G>T	EPHA2, EPHA2-AS1	Single nucleotide variant (5 prime UTR variant)	Cataract 6 multiple types	GUncertain significance

ClinVar