"Mendelics"[submitter] AND "ECHS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802638	NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala)	ECHS1 (T266A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 802639	NM_004092.4(ECHS1):c.740C>T (p.Ala247Val)	ECHS1 (A247V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 972723	NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)	ECHS1 (A238V)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 802640	NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg)	ECHS1 (C213R)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic
Select item 802641	NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)	ECHS1 (G195S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1328252	NM_004092.4(ECHS1):c.563C>T (p.Ala188Val)	ECHS1 (A188V)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 377257	NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	ECHS1 (A173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1685312	NM_004092.4(ECHS1):c.457T>A (p.Tyr153Asn)	ECHS1 (Y153N)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic
Select item 488499	NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)	ECHS1 (A132T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1685760	NM_004092.4(ECHS1):c.250G>A (p.Ala84Thr)	ECHS1 (A84T)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 802642	NM_004092.4(ECHS1):c.161G>A (p.Arg54His)	ECHS1 (R54H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 802643	NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)	ECHS1 (G42fs)	Microsatellite (frameshift variant)	Leigh syndrome +3 more	GPathogenic/Likely pathogenic
Select item 156434	NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)	ECHS1, LOC130005023 (A2V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 802644	NM_004092.4(ECHS1):c.1A>T (p.Met1Leu)	ECHS1, LOC130005023 (M1L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic