ClinVar for MedGen (Select 902729) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2440019	NM_004092.4(ECHS1):c.53dup (p.Val19fs)	ECHS1, LOC130005023 (V19fs)	Duplication (frameshift variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic
Select item 2431937	NM_004092.4(ECHS1):c.616G>A (p.Ala206Thr)	ECHS1 (A206T)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GUncertain significance
Select item 2431497	NM_004092.4(ECHS1):c.440T>C (p.Met147Thr)	ECHS1 (M147T)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GUncertain significance
Select item 1950223	NM_004092.4(ECHS1):c.202G>A (p.Glu68Lys)	ECHS1 (E68K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806310	NM_004092.4(ECHS1):c.299T>C (p.Ile100Thr)	ECHS1 (I100T)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GUncertain significance
Select item 1806267	NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)	ECHS1 (Q201*)	Single nucleotide variant (nonsense)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GPathogenic
Select item 1691714	NM_004092.4(ECHS1):c.673T>C (p.Cys225Arg)	ECHS1 (C225R)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
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 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 1667614	NM_004092.4(ECHS1):c.343A>C (p.Lys115Gln)	ECHS1 (K115Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1630049	NM_004092.4(ECHS1):c.213G>A (p.Gln71=)	ECHS1	Single nucleotide variant (synonymous variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1389349	NM_004092.4(ECHS1):c.62G>C (p.Cys21Ser)	ECHS1, LOC130005023 (C21S)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GUncertain significance
Select item 1362959	NM_004092.4(ECHS1):c.814C>T (p.Arg272Trp)	ECHS1 (R272W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1320265	NM_004092.4(ECHS1):c.23T>C (p.Leu8Pro)	ECHS1, LOC130005023 (L8P)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1300726	NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser)	ECHS1 (G175S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1255366	NM_004092.4(ECHS1):c.32T>C (p.Val11Ala)	ECHS1, LOC130005023 (V11A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1212648	NM_004092.4(ECHS1):c.389T>A (p.Val130Asp)	ECHS1 (V130D)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1183328	NM_004092.4(ECHS1):c.67G>C (p.Ala23Pro)	ECHS1, LOC130005023 (A23P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1182826	NM_004092.4(ECHS1):c.739+22C>G	ECHS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 986371	NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter)	ECHS1, LOC130005023 (W24*)	Single nucleotide variant (nonsense)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 986370	NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr)	ECHS1 (A230T)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GUncertain significance
Select item 981051	NM_004092.4(ECHS1):c.467A>G (p.Glu156Gly)	ECHS1 (E156G)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 973476	NM_004092.4(ECHS1):c.444G>T (p.Met148Ile)	ECHS1 (M148I)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GUncertain significance
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 972720	NM_004092.4(ECHS1):c.229G>C (p.Glu77Gln)	ECHS1 (E77Q)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 870387	NM_004092.4(ECHS1):c.414+1G>A	ECHS1	Single nucleotide variant (splice donor variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic
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
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 802642	NM_004092.4(ECHS1):c.161G>A (p.Arg54His)	ECHS1 (R54H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 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 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 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 692007	NM_004092.4(ECHS1):c.8C>T (p.Ala3Val)	ECHS1, LOC130005023 (A3V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 692006	NM_004092.4(ECHS1):c.847A>G (p.Arg283Gly)	ECHS1 (R283G)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic
Select item 691284	NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)	ECHS1 (T180A)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GPathogenic/Likely pathogenic
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 488500	NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro)	ECHS1, LOC130005023 (R25P)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
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 488498	NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu)	ECHS1 (P163L)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic
Select item 488497	NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr)	ECHS1 (A226T)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic
Select item 488496	NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs)	ECHS1 (N286fs)	Duplication (frameshift variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 488384	NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys)	ECHS1 (R181C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 430372	NM_004092.4(ECHS1):c.88+5G>A	ECHS1, LOC130005023	Single nucleotide variant (intron variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GPathogenic/Likely pathogenic
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 418830	NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs)	ECHS1 (Y137fs)	Deletion (frameshift variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 397547	NC_000010.10:g.(?_135175966)_(135180498_135182426)del	ECHS1	Deletion	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 397546	NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile)	ECHS1 (T277I)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GLikely pathogenic
Select item 386290	NM_004092.4(ECHS1):c.240G>A (p.Pro80=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 385034	NM_004092.4(ECHS1):c.489G>A (p.Pro163=)	ECHS1	Single nucleotide variant (synonymous variant)	ECHS1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 381856	NM_004092.4(ECHS1):c.286+8C>T	ECHS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 380090	NM_004092.4(ECHS1):c.808-17G>A	ECHS1	Single nucleotide variant (intron variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +2 more	GBenign/Likely benign
Select item 379966	NM_004092.4(ECHS1):c.582T>C (p.Thr194=)	ECHS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 379965	NM_004092.4(ECHS1):c.224C>T (p.Thr75Ile)	ECHS1 (T75I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 379794	NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	ECHS1 (Q159R)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +2 more	GPathogenic/Likely pathogenic
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 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 369670	NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)	ECHS1 (R54C)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 218891	NM_004092.4(ECHS1):c.413C>T (p.Ala138Val)	ECHS1 (A138V)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 218890	NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)	ECHS1 (N59S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 187860	NM_004092.4(ECHS1):c.414+3G>C	ECHS1	Single nucleotide variant (intron variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 187859	NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp)	ECHS1 (A158D)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
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 156433	NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)	ECHS1, LOC130005023 (M1R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GPathogenic/Likely pathogenic

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Items: 68