C4225391[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 451145	NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser)	ECHS1 (F279S)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1033636	NM_004092.4(ECHS1):c.833C>T (p.Ala278Val)	ECHS1 (A278V)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GUncertain significance
Select item 691284	NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)	ECHS1 (T180A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1300726	NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser)	ECHS1 (G175S)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 377257	NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)	ECHS1 (A173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 418830	NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs)	ECHS1 (Y137fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 689756	NM_004092.4(ECHS1):c.268G>C (p.Gly90Arg)	ECHS1 (G90R)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GUncertain significance
Select item 426299	NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg)	ECHS1 (G90R)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2441858	NM_004092.4(ECHS1):c.197T>C (p.Ile66Thr)	ECHS1 (I66T)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GLikely pathogenic
Select item 986371	NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter)	ECHS1, LOC130005023 (W24*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity