ClinVar for MedGen (Select 482486) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5610031.	NM_022726.4(ELOVL4):c.670-1G>A GRCh37: Chr6:80626601 GRCh38: Chr6:79916884	ELOVL4		not provided, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Pathogenic/Likely pathogenic (Aug 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 5610022.	NM_022726.4(ELOVL4):c.215del (p.Pro72fs) GRCh37: Chr6:80635984 GRCh38: Chr6:79926267	ELOVL4	P72fs	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Stargardt disease 3	Conflicting interpretations of pathogenicity (Oct 16, 2018)	criteria provided, conflicting interpretations
Select item 4331923.	NM_022726.4(ELOVL4):c.289-2A>G GRCh37: Chr6:80634751 GRCh38: Chr6:79925034	ELOVL4		ELOVL4-Related Disorders	Likely pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 3581484.	NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) GRCh37: Chr6:80634687 GRCh38: Chr6:79924970	ELOVL4	N117K	Spinocerebellar ataxia type 34, Stargardt disease 3, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, not provided, Stargardt disease 3, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 1430565.	NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) GRCh37: Chr6:80631379 GRCh38: Chr6:79921662	ELOVL4	L168F	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Spinocerebellar ataxia type 34, Stargardt disease 3	Pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 1372066.	NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) GRCh37: Chr6:80626375 GRCh38: Chr6:79916658	ELOVL4	M299V	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Spinocerebellar ataxia type 34, not provided, Stargardt disease 3, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1372057.	NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) GRCh37: Chr6:80626456 GRCh38: Chr6:79916739	ELOVL4	E272Q	Spinocerebellar ataxia type 34, Stargardt disease 3, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, not specified, not provided, Stargardt disease 3	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 304958.	NM_022726.4(ELOVL4):c.690del (p.Ile230fs) GRCh37: Chr6:80626580 GRCh38: Chr6:79916863	ELOVL4	I230fs	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	Pathogenic (Dec 9, 2011)	no assertion criteria provided
Select item 304949.	NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter) GRCh37: Chr6:80629160 GRCh38: Chr6:79919443	ELOVL4	R216*	not provided	Pathogenic/Likely pathogenic (Nov 1, 2023)	criteria provided, multiple submitters, no conflicts