"Eurofins Ntd Llc (ga)"[submitter] AND "ELOVL4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281603	NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr)	ELOVL4 (A311T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 137206	NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)	ELOVL4 (M299V)	Single nucleotide variant (missense variant)	Stargardt disease 3 +4 more	GBenign
Select item 137204	NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr)	ELOVL4 (I267T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 358146	NM_022726.4(ELOVL4):c.699G>A (p.Thr233=)	ELOVL4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 167037	NM_022726.4(ELOVL4):c.467T>C (p.Phe156Ser)	ELOVL4 (F156S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 358148	NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)	ELOVL4 (N117K)	Single nucleotide variant (missense variant)	Stargardt disease 3 +4 more	GConflicting classifications of pathogenicity
Select item 598145	NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)	ELOVL4	Single nucleotide variant (synonymous variant)	Stargardt disease 3 +1 more	GConflicting classifications of pathogenicity

ClinVar