ClinVar for Gene (Select 1892) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381491	NM_004092.4(ECHS1):c.436G>C (p.Ala146Pro)	ECHS1 (A146P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349860	NM_004092.4(ECHS1):c.579C>A (p.Leu193=)	ECHS1	Single nucleotide variant (synonymous variant)	ECHS1-related disorder	GLikely benign
Select item 3342472	NM_004092.4(ECHS1):c.619+181C>T	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3257481	NM_004092.4(ECHS1):c.473C>T (p.Ala158Val)	ECHS1 (A158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257271	NM_004092.4(ECHS1):c.500T>C (p.Ile167Thr)	ECHS1 (I167T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244966	NC_000010.10:g.(?_135186730)_(135186837_?)del	ECHS1	Deletion	not provided	GPathogenic
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063154	GRCh37/hg19 10q26.3(chr10:131398569-135427143)x1	ADAM8, ADGRA1 +31 more	Copy number loss	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 3032057	NM_004092.4(ECHS1):c.286+4C>A	ECHS1	Single nucleotide variant (intron variant)	ECHS1-related disorder	GLikely benign
Select item 3024574	GRCh37/hg19 10q26.3(chr10:131299771-135441274)x1	ADAM8, ADGRA1 +32 more	Copy number loss	not provided	GPathogenic
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 3005454	NM_004092.4(ECHS1):c.364C>A (p.His122Asn)	ECHS1 (H122N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999934	NM_004092.4(ECHS1):c.415-7T>C	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990269	NM_004092.4(ECHS1):c.415-11A>G	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988996	NM_004092.4(ECHS1):c.619+19C>T	ECHS1	Single nucleotide variant (intron 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 2975183	NM_004092.4(ECHS1):c.141G>A (p.Val47=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975004	NM_004092.4(ECHS1):c.515-11C>T	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964322	NM_004092.4(ECHS1):c.415-17T>C	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962379	NM_004092.4(ECHS1):c.375G>A (p.Gln125=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959823	NM_004092.4(ECHS1):c.567G>A (p.Met189Ile)	ECHS1 (M189I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902821	NM_004092.4(ECHS1):c.243C>T (p.Ala81=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900088	NM_004092.4(ECHS1):c.453C>T (p.Ile151=)	ECHS1	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 2848844	NM_004092.4(ECHS1):c.846G>A (p.Lys282=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846622	NM_004092.4(ECHS1):c.693C>T (p.Ser231=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828243	NM_004092.4(ECHS1):c.728C>T (p.Ser243Leu)	ECHS1 (S243L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816263	NM_004092.4(ECHS1):c.515-4G>A	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813704	NM_004092.4(ECHS1):c.628A>G (p.Ser210Gly)	ECHS1 (S210G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782115	NM_004092.4(ECHS1):c.312G>A (p.Gln104=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756734	NM_004092.4(ECHS1):c.855C>T (p.Ala285=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2697065	NM_004092.4(ECHS1):c.286+7G>T	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693956	NM_004092.4(ECHS1):c.372C>T (p.Thr124=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685393	GRCh37/hg19 10q26.3(chr10:133435524-135427143)x1	ADAM8, ADGRA1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2672426	GRCh37/hg19 10q26.3(chr10:135053180-135381952)x3	ADAM8, CALY +11 more	Copy number gain	not provided	GUncertain significance
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2628915	NM_004092.4(ECHS1):c.89-2A>G	ECHS1	Single nucleotide variant (splice acceptor variant)	ECHS1-related disorder	GLikely pathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2576762	NM_004092.4(ECHS1):c.542G>T (p.Arg181Leu)	ECHS1 (R181L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
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 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 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 2427551	NC_000010.10:g.(?_134598420)_(135373622_?)dup	ADAM8, CALY +17 more	Duplication	not provided	GUncertain significance
Select item 2418501	NM_004092.4(ECHS1):c.740-10T>G	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2230659	NM_004092.4(ECHS1):c.293C>G (p.Ala98Gly)	ECHS1 (A98G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180666	NM_004092.4(ECHS1):c.642T>C (p.Pro214=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2173922	NM_004092.4(ECHS1):c.267C>T (p.Gly89=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2136943	NM_004092.4(ECHS1):c.8C>A (p.Ala3Asp)	ECHS1, LOC130005023 (A3D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2129080	NM_004092.4(ECHS1):c.852G>A (p.Lys284=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128095	NM_004092.4(ECHS1):c.477G>C (p.Gln159His)	ECHS1 (Q159H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2125185	NM_004092.4(ECHS1):c.619+12G>T	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116582	NM_004092.4(ECHS1):c.170C>T (p.Ala57Val)	ECHS1 (A57V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098649	NM_004092.4(ECHS1):c.547G>A (p.Val183Ile)	ECHS1 (V183I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097935	NM_004092.4(ECHS1):c.303G>C (p.Lys101Asn)	ECHS1 (K101N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094650	NM_004092.4(ECHS1):c.804C>A (p.Ala268=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092300	NM_004092.4(ECHS1):c.784C>G (p.Leu262Val)	ECHS1 (L262V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091167	NM_004092.4(ECHS1):c.258C>A (p.Val86=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090652	NM_004092.4(ECHS1):c.740-19C>T	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081395	NM_004092.4(ECHS1):c.804C>T (p.Ala268=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069211	NM_004092.4(ECHS1):c.187G>C (p.Asp63His)	ECHS1 (D63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068460	NM_004092.4(ECHS1):c.515-10del	ECHS1	Deletion (intron variant)	not provided	GBenign
Select item 2067810	NM_004092.4(ECHS1):c.286+14C>T	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032860	NM_004092.4(ECHS1):c.619+1del	ECHS1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2032236	NM_004092.4(ECHS1):c.414+7_414+21del	ECHS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2032134	NM_004092.4(ECHS1):c.370dup (p.Thr124fs)	ECHS1 (T124fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2018150	NM_004092.4(ECHS1):c.786C>A (p.Leu262=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015116	NM_004092.4(ECHS1):c.559C>A (p.Leu187Met)	ECHS1 (L187M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005667	NM_004092.4(ECHS1):c.740-10T>C	ECHS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1996864	NM_004092.4(ECHS1):c.443T>C (p.Met148Thr)	ECHS1 (M148T)	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 1989949	NM_004092.4(ECHS1):c.372C>A (p.Thr124=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984201	NM_004092.4(ECHS1):c.336C>T (p.Tyr112=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983931	NM_004092.4(ECHS1):c.201C>T (p.Asp67=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976748	NM_004092.4(ECHS1):c.222G>A (p.Lys74=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967428	NM_004092.4(ECHS1):c.89-20T>A	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962455	NM_004092.4(ECHS1):c.376G>A (p.Val126Ile)	ECHS1 (V126I)	Single nucleotide variant (missense variant)	not provided	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 1948596	NM_004092.4(ECHS1):c.870G>C (p.Gln290His)	ECHS1 (Q290H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936495	NM_004092.4(ECHS1):c.537C>G (p.Leu179=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936395	NM_004092.4(ECHS1):c.395C>T (p.Ala132Val)	ECHS1 (A132V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1930652	NM_004092.4(ECHS1):c.767G>A (p.Ser256Asn)	ECHS1 (S256N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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