"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ELOVL5"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2070080	NM_021814.5(ELOVL5):c.871G>A (p.Val291Met)	ELOVL5 (V291M +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 916283	NM_021814.5(ELOVL5):c.860del (p.Leu287fs)	ELOVL5 (G246fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 691282	NM_021814.5(ELOVL5):c.246+3891C>T	ELOVL5 (Q102*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign/Likely benign
Select item 2656647	NM_021814.5(ELOVL5):c.246+3865G>T	ELOVL5 (C93F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2656648	NM_021814.5(ELOVL5):c.190A>T (p.Ile64Phe)	ELOVL5 (I64F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656649	NM_021814.5(ELOVL5):c.97A>T (p.Ile33Leu)	ELOVL5 (I33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 871261	NM_021814.5(ELOVL5):c.8A>G (p.His3Arg)	ELOVL5 (H3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar