ClinVar for MedGen (Select 338703) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028774	NM_022726.4(ELOVL4):c.163C>G (p.Leu55Val)	ELOVL4 (L55V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 34 +1 more	GUncertain significance
Select item 547008	NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)	ELOVL4 (T233M)	Single nucleotide variant (missense variant)	ELOVL4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 435057	NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)	ELOVL4 (I171T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 34 +1 more	GPathogenic/Likely pathogenic
Select item 430572	NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly)	ELOVL4 (W246G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 143056	NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)	ELOVL4 (L168F)	Single nucleotide variant (missense variant)	Stargardt disease 3 +3 more	GPathogenic
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 137205	NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)	ELOVL4 (E272Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign

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