"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ECHS1"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 513250	NM_004092.4(ECHS1):c.825G>A (p.Gly275=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 506333	NM_004092.4(ECHS1):c.519G>A (p.Ala173=)	ECHS1	Single nucleotide variant (synonymous variant)	not specified +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	GConflicting classifications of pathogenicity
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 1595228	NM_004092.4(ECHS1):c.462C>T (p.Ala154=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 381881	NM_004092.4(ECHS1):c.10C>T (p.Leu4=)	ECHS1, LOC130005023	Single nucleotide variant (synonymous variant)	ECHS1-related condition +1 more	GBenign/Likely benign
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +32 more	Copy number loss	not provided	GPathogenic
Select item 2672426	GRCh37/hg19 10q26.3(chr10:135053180-135381952)x3	CALY, CYP2E1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	HMX3, LHPP +80 more	Copy number loss	not provided	GPathogenic