Related gene-specific medical variations for Gene (Select 79574) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045009	NM_133181.4(EPS8L3):c.1594G>A (p.Glu532Lys)	EPS8L3, LOC126805823 (E469K +3 more)	Single nucleotide variant (missense variant)	EPS8L3-related disorder +1 more	GLikely benign
Select item 2607828	NM_133181.4(EPS8L3):c.1649C>T (p.Thr550Ile)	EPS8L3, LOC126805823 (T487I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547842	NM_133181.4(EPS8L3):c.1572G>A (p.Met524Ile)	EPS8L3, LOC126805823 (M494I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538970	NM_133181.4(EPS8L3):c.1590G>T (p.Arg530Ser)	EPS8L3, LOC126805823 (R500S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252568	NM_133181.4(EPS8L3):c.1682G>A (p.Arg561His)	EPS8L3, LOC126805823 (R561H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 713674	NM_133181.4(EPS8L3):c.1666G>A (p.Gly556Arg)	EPS8L3, LOC126805823 (G493R +3 more)	Single nucleotide variant (missense variant)	EPS8L3-related disorder +1 more	GLikely benign

ClinVar