ACOT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 3154479	NM_024644.5(RIOX1):c.80G>A (p.Gly27Glu)	ACOT1, HEATR4 +1 more (G27E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768664	NM_024644.5(RIOX1):c.94C>A (p.Leu32Met)	HEATR4, RIOX1 +1 more (L32M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 788892	NM_024644.5(RIOX1):c.1587C>G (p.Arg529=)	ACOT1, HEATR4 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3104804	NM_001220484.1(HEATR4):c.2731A>G (p.Lys911Glu)	ACOT1, HEATR4 (K911E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519534	NM_001220484.1(HEATR4):c.2713C>T (p.Arg905Cys)	ACOT1, HEATR4 (R905C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104803	NM_001220484.1(HEATR4):c.2695G>C (p.Val899Leu)	ACOT1, HEATR4 (V899L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226595	NM_001220484.1(HEATR4):c.2689G>A (p.Gly897Arg)	ACOT1, HEATR4 (G897R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358435	NM_001220484.1(HEATR4):c.2681T>C (p.Met894Thr)	ACOT1, HEATR4 (M894T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104802	NM_001220484.1(HEATR4):c.2611G>C (p.Glu871Gln)	ACOT1, HEATR4 (E871Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396656	NM_001220484.1(HEATR4):c.2590G>A (p.Gly864Arg)	ACOT1, HEATR4 (G864R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557430	NM_001220484.1(HEATR4):c.2575A>G (p.Asn859Asp)	ACOT1, HEATR4 (N859D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317441	NM_001220484.1(HEATR4):c.2536G>A (p.Ala846Thr)	ACOT1, HEATR4 (A846T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370510	NM_001220484.1(HEATR4):c.2512G>A (p.Val838Met)	ACOT1, HEATR4 (V838M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335498	NM_001220484.1(HEATR4):c.2503T>C (p.Phe835Leu)	ACOT1, HEATR4 (F835L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104801	NM_001220484.1(HEATR4):c.2489G>A (p.Arg830Gln)	ACOT1, HEATR4 (R830Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614614	NM_001220484.1(HEATR4):c.2480A>T (p.Gln827Leu)	ACOT1, HEATR4 (Q827L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361716	NM_001220484.1(HEATR4):c.2456G>A (p.Arg819His)	ACOT1, HEATR4 (R819H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208745	NM_001220484.1(HEATR4):c.2434G>A (p.Gly812Ser)	ACOT1, HEATR4 (G812S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458611	NM_001220484.1(HEATR4):c.2393C>T (p.Thr798Met)	ACOT1, HEATR4 (T798M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338384	NM_001220484.1(HEATR4):c.2388G>C (p.Glu796Asp)	ACOT1, HEATR4 (E796D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283782	NM_001220484.1(HEATR4):c.2371G>C (p.Gly791Arg)	ACOT1, HEATR4 (G791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539932	NM_001220484.1(HEATR4):c.2354G>A (p.Arg785Gln)	ACOT1, HEATR4 (R785Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283781	NM_001220484.1(HEATR4):c.2333A>G (p.Lys778Arg)	ACOT1, HEATR4 (K778R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104799	NM_001220484.1(HEATR4):c.2236C>T (p.Arg746Trp)	ACOT1, HEATR4 (R746W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104798	NM_001220484.1(HEATR4):c.2186A>G (p.Lys729Arg)	ACOT1, HEATR4 (K729R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605249	NM_001220484.1(HEATR4):c.2095G>A (p.Asp699Asn)	ACOT1, HEATR4 (D699N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327838	NM_001220484.1(HEATR4):c.2053G>A (p.Ala685Thr)	ACOT1, HEATR4 (A685T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205153	NM_001220484.1(HEATR4):c.2016G>A (p.Met672Ile)	ACOT1, HEATR4 (M672I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324531	NM_001220484.1(HEATR4):c.1997A>G (p.His666Arg)	ACOT1, HEATR4 (H666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104797	NM_001220484.1(HEATR4):c.1993A>G (p.Lys665Glu)	ACOT1, HEATR4 (K665E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104796	NM_001220484.1(HEATR4):c.1982G>T (p.Cys661Phe)	ACOT1, HEATR4 (C661F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282510	NM_001220484.1(HEATR4):c.1971T>A (p.Ser657Arg)	ACOT1, HEATR4 (S657R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516179	NM_001220484.1(HEATR4):c.1963C>T (p.Arg655Trp)	ACOT1, HEATR4 (R655W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322226	NM_001220484.1(HEATR4):c.1939A>T (p.Ile647Phe)	ACOT1, HEATR4 (I647F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259734	NM_001220484.1(HEATR4):c.1937G>A (p.Arg646Gln)	ACOT1, HEATR4 (R646Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558366	NM_001220484.1(HEATR4):c.1900C>G (p.Leu634Val)	ACOT1, HEATR4 (L634V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322944	NM_001220484.1(HEATR4):c.1874A>G (p.Glu625Gly)	ACOT1, HEATR4 (E625G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283780	NM_001220484.1(HEATR4):c.1801C>T (p.Leu601Phe)	ACOT1, HEATR4 (L601F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584585	NM_001220484.1(HEATR4):c.1768G>A (p.Gly590Ser)	ACOT1, HEATR4 (G590S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2302039	NM_001220484.1(HEATR4):c.1690C>G (p.Arg564Gly)	ACOT1, HEATR4 (R564G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309035	NM_001220484.1(HEATR4):c.1642G>T (p.Ala548Ser)	ACOT1, HEATR4 (A548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490234	NM_001220484.1(HEATR4):c.1603G>C (p.Glu535Gln)	ACOT1, HEATR4 (E535Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560506	NM_001220484.1(HEATR4):c.1580C>T (p.Pro527Leu)	ACOT1, HEATR4 (P527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283783	NM_001220484.1(HEATR4):c.1531C>G (p.Arg511Gly)	ACOT1, HEATR4 (R511G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268329	NM_001220484.1(HEATR4):c.1525C>T (p.Arg509Trp)	ACOT1, HEATR4 (R509W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104794	NM_001220484.1(HEATR4):c.1501A>G (p.Thr501Ala)	ACOT1, HEATR4 (T501A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104793	NM_001220484.1(HEATR4):c.1483C>T (p.Arg495Trp)	ACOT1, HEATR4 (R495W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331984	NM_001220484.1(HEATR4):c.1478A>G (p.Asp493Gly)	ACOT1, HEATR4 (D493G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104792	NM_001220484.1(HEATR4):c.1466A>T (p.Asp489Val)	ACOT1, HEATR4 (D489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342456	NM_001220484.1(HEATR4):c.1403C>A (p.Ala468Asp)	HEATR4, ACOT1 (A468D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616950	NM_001220484.1(HEATR4):c.1402G>T (p.Ala468Ser)	ACOT1, HEATR4 (A468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403655	NM_001220484.1(HEATR4):c.1382T>G (p.Met461Arg)	ACOT1, HEATR4 (M461R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350308	NM_001220484.1(HEATR4):c.1359G>C (p.Trp453Cys)	ACOT1, HEATR4 (W453C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226069	NM_001220484.1(HEATR4):c.1324A>C (p.Lys442Gln)	ACOT1, HEATR4 (K442Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375490	NM_001220484.1(HEATR4):c.1244C>G (p.Thr415Ser)	ACOT1, HEATR4 (T415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104791	NM_001220484.1(HEATR4):c.1110C>G (p.Asp370Glu)	ACOT1, HEATR4 (D370E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104790	NM_001220484.1(HEATR4):c.1059G>C (p.Glu353Asp)	ACOT1, HEATR4 (E353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210530	NM_001220484.1(HEATR4):c.1054C>G (p.Gln352Glu)	ACOT1, HEATR4 (Q352E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248065	NM_001220484.1(HEATR4):c.1031A>G (p.Tyr344Cys)	ACOT1, HEATR4 (Y344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323358	NM_001220484.1(HEATR4):c.983C>A (p.Thr328Asn)	ACOT1, HEATR4 (T328N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2311538	NM_001220484.1(HEATR4):c.976C>T (p.Pro326Ser)	ACOT1, HEATR4 (P326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597842	NM_001220484.1(HEATR4):c.938G>A (p.Ser313Asn)	ACOT1, HEATR4 (S313N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283777	NM_001220484.1(HEATR4):c.868C>A (p.Pro290Thr)	ACOT1, HEATR4 (P290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529691	NM_001220484.1(HEATR4):c.836C>A (p.Pro279Gln)	ACOT1, HEATR4 (P279Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104811	NM_001220484.1(HEATR4):c.761G>C (p.Ser254Thr)	ACOT1, HEATR4 (S254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584593	NM_001220484.1(HEATR4):c.646C>T (p.Arg216Ter)	ACOT1, HEATR4 (R216*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3104810	NM_001220484.1(HEATR4):c.638G>A (p.Arg213His)	ACOT1, HEATR4 (R213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219427	NM_001220484.1(HEATR4):c.580C>T (p.Pro194Ser)	ACOT1, HEATR4 (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104809	NM_001220484.1(HEATR4):c.574C>T (p.Leu192Phe)	ACOT1, HEATR4 (L192F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364919	NM_001220484.1(HEATR4):c.484C>T (p.Arg162Cys)	ACOT1, HEATR4 (R162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644362	NM_001220484.1(HEATR4):c.473G>A (p.Arg158Gln)	ACOT1, HEATR4 (R158Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3104808	NM_001220484.1(HEATR4):c.440A>C (p.Lys147Thr)	ACOT1, HEATR4 (K147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104807	NM_001220484.1(HEATR4):c.386C>A (p.Thr129Lys)	ACOT1, HEATR4 (T129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409195	NM_001220484.1(HEATR4):c.335G>A (p.Arg112Gln)	ACOT1, HEATR4 (R112Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2644363	NM_001220484.1(HEATR4):c.249G>C (p.Leu83=)	ACOT1, HEATR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479814	NM_001220484.1(HEATR4):c.217T>C (p.Phe73Leu)	ACOT1, HEATR4 (F73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104795	NM_001220484.1(HEATR4):c.197T>C (p.Met66Thr)	ACOT1, HEATR4 (M66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526661	NM_001220484.1(HEATR4):c.176G>C (p.Arg59Pro)	ACOT1, HEATR4 (R59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328890	NM_001220484.1(HEATR4):c.175C>T (p.Arg59Cys)	ACOT1, HEATR4 (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283778	NM_001220484.1(HEATR4):c.167G>A (p.Arg56His)	ACOT1, HEATR4 (R56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253302	NM_001220484.1(HEATR4):c.37C>A (p.His13Asn)	ACOT1, HEATR4 (H13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370509	NM_001220484.1(HEATR4):c.20G>A (p.Gly7Glu)	ACOT1, HEATR4 (G7E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263771	NM_001037161.2(ACOT1):c.46G>A (p.Asp16Asn)	ACOT1, HEATR4 (D16N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613512	NM_001037161.2(ACOT1):c.52C>A (p.Pro18Thr)	ACOT1, HEATR4 (P18T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067179	NM_001037161.2(ACOT1):c.85G>A (p.Glu29Lys)	ACOT1, HEATR4 (E29K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 725891	NM_001037161.2(ACOT1):c.150G>A (p.Ala50=)	ACOT1, HEATR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778484	NM_001037161.2(ACOT1):c.168C>T (p.Thr56=)	ACOT1, HEATR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3137269	NM_001037161.2(ACOT1):c.199G>C (p.Ala67Pro)	ACOT1, HEATR4 (A67P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357026	NM_001037161.2(ACOT1):c.265C>T (p.Pro89Ser)	ACOT1, HEATR4 (P89S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 778485	NM_001037161.2(ACOT1):c.267C>T (p.Pro89=)	ACOT1, HEATR4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2365612	NM_001037161.2(ACOT1):c.322G>A (p.Val108Met)	ACOT1, HEATR4 (V108M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137279	NM_001037161.2(ACOT1):c.350G>A (p.Gly117Glu)	ACOT1, HEATR4 (G117E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137283	NM_001037161.2(ACOT1):c.361T>G (p.Cys121Gly)	ACOT1, HEATR4 (C121G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3137286	NM_001037161.2(ACOT1):c.382T>G (p.Tyr128Asp)	ACOT1, HEATR4 (Y128D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2352562	NM_001037161.2(ACOT1):c.383A>G (p.Tyr128Cys)	ACOT1, HEATR4 (Y128C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 375394	NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs)	ACOT1, HEATR4 (E137fs)	Deletion (frameshift variant +1 more)	Generalized hypotonia	GPathogenic

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