"Ambry Genetics"[submitter] AND "ECHS1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2496169	NM_004092.4(ECHS1):c.865G>A (p.Asp289Asn)	ECHS1 (D289N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 372596	NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)	ECHS1 (K273E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 802638	NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala)	ECHS1 (T266A)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2324213	NM_004092.4(ECHS1):c.772T>G (p.Leu258Val)	ECHS1 (L258V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231796	NM_004092.4(ECHS1):c.706G>T (p.Val236Leu)	ECHS1 (V236L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164096	NM_004092.4(ECHS1):c.643G>A (p.Val215Ile)	ECHS1 (V215I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 985145	NM_004092.4(ECHS1):c.589C>G (p.Arg197Gly)	ECHS1 (R197G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2176371	NM_004092.4(ECHS1):c.493A>G (p.Ile165Val)	ECHS1 (I165V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452619	NM_004092.4(ECHS1):c.463G>A (p.Gly155Ser)	ECHS1 (G155S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2032134	NM_004092.4(ECHS1):c.370dup (p.Thr124fs)	ECHS1 (T124fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1667614	NM_004092.4(ECHS1):c.343A>C (p.Lys115Gln)	ECHS1 (K115Q)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2230659	NM_004092.4(ECHS1):c.293C>G (p.Ala98Gly)	ECHS1 (A98G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522021	NM_004092.4(ECHS1):c.227T>G (p.Phe76Cys)	ECHS1 (F76C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1390247	NM_004092.4(ECHS1):c.110T>C (p.Ile37Thr)	ECHS1 (I37T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1382261	NM_004092.4(ECHS1):c.89-6C>G	ECHS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1450201	NM_004092.4(ECHS1):c.82G>T (p.Ala28Ser)	ECHS1, LOC130005023 (A28S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2474594	NM_004092.4(ECHS1):c.61T>C (p.Cys21Arg)	ECHS1, LOC130005023 (C21R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1908013	NM_004092.4(ECHS1):c.38G>A (p.Gly13Asp)	ECHS1, LOC130005023 (G13D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 692007	NM_004092.4(ECHS1):c.8C>T (p.Ala3Val)	ECHS1, LOC130005023 (A3V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

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Items: 21