ECHS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 155487	GRCh38/hg38 10q26.3(chr10:130625650-133613639)x1	ADAM8, ADGRA1 +135 more	Copy number loss	See cases	GUncertain significance
Select item 155695	GRCh38/hg38 10q26.3(chr10:131424682-133613639)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 57314	GRCh38/hg38 10q26.3(chr10:131457361-133620674)x1	ADAM8, ADGRA1 +127 more	Copy number loss	See cases	GPathogenic
Select item 58853	GRCh38/hg38 10q26.3(chr10:131914873-133613938)x1	ADAM8, ADGRA1 +115 more	Copy number loss	See cases	GPathogenic
Select item 146073	GRCh38/hg38 10q26.3(chr10:132178475-133620674)x1	ADAM8, ADGRA1 +105 more	Copy number loss	See cases	GPathogenic
Select item 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 58854	GRCh38/hg38 10q26.3(chr10:132475849-133620674)x1	ADAM8, ADGRA1 +79 more	Copy number loss	See cases	GPathogenic
Select item 149205	GRCh38/hg38 10q26.3(chr10:132962729-133622588)x1	ADAM8, ADGRA1 +61 more	Copy number loss	See cases	GUncertain significance
Select item 151171	GRCh38/hg38 10q26.3(chr10:133001075-133622588)x3	KNDC1, LOC110599579 +59 more	Copy number gain	See cases	GUncertain significance
Select item 57459	GRCh38/hg38 10q26.3(chr10:133001134-133620674)x1	ADAM8, ADGRA1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152049	GRCh38/hg38 10q26.3(chr10:133059029-133622588)x3	ADAM8, ADGRA1 +58 more	Copy number gain	See cases	GUncertain significance
Select item 144988	GRCh38/hg38 10q26.3(chr10:133134279-133400512)x1	ADAM8, CALY +40 more	Copy number loss	See cases	GBenign
Select item 1342628	NC_000010.11:g.133346605_133601248dup	CYP2E1, ECHS1 +30 more	Duplication	not provided	GUncertain significance
Select item 397547	NC_000010.10:g.(?_135175966)_(135180498_135182426)del	ECHS1	Deletion	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency	GPathogenic
Select item 1265360	NM_004092.4(ECHS1):c.*281C>T	ECHS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1258110	NM_004092.4(ECHS1):c.*114C>T	ECHS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 1500660	NM_004092.4(ECHS1):c.867C>G (p.Asp289Glu)	ECHS1 (D289E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1313471	NM_004092.4(ECHS1):c.859T>C (p.Phe287Leu)	ECHS1 (F287L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2756734	NM_004092.4(ECHS1):c.855C>T (p.Ala285=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129080	NM_004092.4(ECHS1):c.852G>A (p.Lys284=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357281	NM_004092.4(ECHS1):c.849_852del (p.Lys284fs)	ECHS1 (K284fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1462610	NM_004092.4(ECHS1):c.851A>G (p.Lys284Arg)	ECHS1 (K284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2848844	NM_004092.4(ECHS1):c.846G>A (p.Lys282=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481916	NM_004092.4(ECHS1):c.846G>C (p.Lys282Asn)	ECHS1 (K282N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1585966	NM_004092.4(ECHS1):c.834G>A (p.Ala278=)	ECHS1	Single nucleotide variant (synonymous variant)	ECHS1-related disorder +1 more	GLikely benign
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 1203134	NM_004092.4(ECHS1):c.832G>A (p.Ala278Thr)	ECHS1 (A278T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1656928	NM_004092.4(ECHS1):c.831C>A (p.Thr277=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 513250	NM_004092.4(ECHS1):c.825G>A (p.Gly275=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1556755	NM_004092.4(ECHS1):c.822A>G (p.Glu274=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1425630	NM_004092.4(ECHS1):c.815G>A (p.Arg272Gln)	ECHS1 (R272Q)	Single nucleotide variant (missense variant)	not provided	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 1492791	NM_004092.4(ECHS1):c.808-1G>C	ECHS1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1928696	NM_004092.4(ECHS1):c.808-14C>T	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1661592	NM_004092.4(ECHS1):c.808-20T>C	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217391	NM_004092.4(ECHS1):c.808-36C>G	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214494	NM_004092.4(ECHS1):c.808-37G>A	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238388	NM_004092.4(ECHS1):c.808-121G>A	ECHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268239	NM_004092.4(ECHS1):c.807+300T>C	ECHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289670	NM_004092.4(ECHS1):c.807+75T>G	ECHS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1629824	NM_004092.4(ECHS1):c.807+18A>C	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647950	NM_004092.4(ECHS1):c.807+14G>A	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1412750	NM_004092.4(ECHS1):c.807+3G>A	ECHS1	Single nucleotide variant (intron 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 2081395	NM_004092.4(ECHS1):c.804C>T (p.Ala268=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551900	NM_004092.4(ECHS1):c.798C>T (p.Thr266=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2018150	NM_004092.4(ECHS1):c.786C>A (p.Leu262=)	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 2324213	NM_004092.4(ECHS1):c.772T>G (p.Leu258Val)	ECHS1 (L258V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1495331	NM_004092.4(ECHS1):c.768T>G (p.Ser256Arg)	ECHS1 (S256R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930652	NM_004092.4(ECHS1):c.767G>A (p.Ser256Asn)	ECHS1 (S256N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373029	NM_004092.4(ECHS1):c.764G>C (p.Gly255Ala)	ECHS1 (G255A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534797	NM_004092.4(ECHS1):c.753A>G (p.Thr251=)	ECHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722310	NM_004092.4(ECHS1):c.745G>A (p.Glu249Lys)	ECHS1 (E249K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1465670	NM_004092.4(ECHS1):c.740-3C>T	ECHS1	Single nucleotide variant (intron variant)	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 2005667	NM_004092.4(ECHS1):c.740-10T>C	ECHS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1551514	NM_004092.4(ECHS1):c.740-14A>G	ECHS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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