"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1908078	NM_004092.4(ECHS1):c.88+9G>A	ECHS1, LOC130005023	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 756588	NM_004092.4(ECHS1):c.88+8C>T	ECHS1, LOC130005023	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2755664	NM_004092.4(ECHS1):c.87G>A (p.Ser29=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	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 1511505	NM_004092.4(ECHS1):c.79T>G (p.Phe27Val)	ECHS1, LOC130005023 (F27V)	Single nucleotide variant (missense variant)	not provided	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 1183328	NM_004092.4(ECHS1):c.67G>C (p.Ala23Pro)	ECHS1, LOC130005023 (A23P)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GUncertain significance
Select item 1352310	NM_004092.4(ECHS1):c.65C>T (p.Pro22Leu)	LOC130005023, ECHS1 (P22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3021152	NM_004092.4(ECHS1):c.60C>A (p.Arg20=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538777	NM_004092.4(ECHS1):c.54G>C (p.Pro18=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609077	NM_004092.4(ECHS1):c.45G>A (p.Leu15=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1470885	NM_004092.4(ECHS1):c.37G>C (p.Gly13Arg)	ECHS1, LOC130005023 (G13R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2984149	NM_004092.4(ECHS1):c.36C>T (p.Arg12=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890783	NM_004092.4(ECHS1):c.32_33delinsCT (p.Val11Ala)	ECHS1, LOC130005023 (V11A)	Indel (missense variant)	not provided	GLikely benign
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 1674050	NM_004092.4(ECHS1):c.27C>T (p.Ser9=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2500448	NM_004092.4(ECHS1):c.22C>T (p.Leu8=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1653051	NM_004092.4(ECHS1):c.19C>T (p.Leu7=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508228	NM_004092.4(ECHS1):c.13C>T (p.Arg5Cys)	ECHS1, LOC130005023 (R5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1673381	NM_004092.4(ECHS1):c.12G>C (p.Leu4=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1380590	NM_004092.4(ECHS1):c.10C>G (p.Leu4Val)	ECHS1, LOC130005023 (L4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381881	NM_004092.4(ECHS1):c.10C>T (p.Leu4=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1899094	NM_004092.4(ECHS1):c.9C>A (p.Ala3=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381412	NM_004092.4(ECHS1):c.9C>T (p.Ala3=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136943	NM_004092.4(ECHS1):c.8C>A (p.Ala3Asp)	ECHS1, LOC130005023 (A3D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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
Select item 376958	NM_004092.4(ECHS1):c.7G>A (p.Ala3Thr)	ECHS1, LOC130005023 (A3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652636	NM_004092.4(ECHS1):c.6C>A (p.Ala2=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533721	NM_004092.4(ECHS1):c.6C>T (p.Ala2=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 799186	NM_004092.4(ECHS1):c.6C>G (p.Ala2=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156434	NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)	ECHS1, LOC130005023 (A2V)	Single nucleotide variant (missense variant)	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency +1 more	GPathogenic
Select item 1349223	NM_004092.4(ECHS1):c.4G>T (p.Ala2Ser)	ECHS1, LOC130005023 (A2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992780	NM_004092.4(ECHS1):c.3G>C (p.Met1Ile)	ECHS1, LOC130005023 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1903474	NM_004092.4(ECHS1):c.2T>C (p.Met1Thr)	ECHS1, LOC130005023 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	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
Select item 1382291	NM_004092.4(ECHS1):c.1A>G (p.Met1Val)	ECHS1, LOC130005023 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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Items: 40