ClinVar for Gene (Select 399671) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3283782	NM_001220484.1(HEATR4):c.2371G>C (p.Gly791Arg)	ACOT1, HEATR4 (G791R)	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 3283780	NM_001220484.1(HEATR4):c.1801C>T (p.Leu601Phe)	ACOT1, HEATR4 (L601F)	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 3283777	NM_001220484.1(HEATR4):c.868C>A (p.Pro290Thr)	ACOT1, HEATR4 (P290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262036	NM_001365788.1(ACOT6):c.1159G>A (p.Glu387Lys)	ACOT6, HEATR4 (E173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262026	NM_001365788.1(ACOT6):c.829G>A (p.Asp277Asn)	ACOT6, HEATR4 (D63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262015	NM_152331.4(ACOT4):c.674G>A (p.Gly225Asp)	ACOT4, HEATR4 (G225D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262004	NM_152331.4(ACOT4):c.151C>A (p.Arg51Ser)	ACOT4, HEATR4 (R51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261993	NM_152331.4(ACOT4):c.366G>C (p.Gln122His)	ACOT4, HEATR4 (Q122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261982	NM_152331.4(ACOT4):c.433C>T (p.Arg145Cys)	ACOT4, HEATR4 (R145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261971	NM_152331.4(ACOT4):c.265C>A (p.Pro89Thr)	ACOT4, HEATR4 (P89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261961	NM_006821.6(ACOT2):c.1036G>A (p.Val346Met)	ACOT2, HEATR4 (V149M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3261953	NM_006821.6(ACOT2):c.911C>T (p.Ala304Val)	ACOT2, HEATR4 (A304V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261942	NM_006821.6(ACOT2):c.674T>A (p.Met225Lys)	ACOT2, HEATR4 (M28K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261930	NM_006821.6(ACOT2):c.554C>G (p.Thr185Arg)	ACOT2, HEATR4 (T185R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261920	NM_006821.6(ACOT2):c.350A>G (p.Asp117Gly)	ACOT2, HEATR4 (D117G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261839	NM_001037161.2(ACOT1):c.1052A>T (p.Gln351Leu)	ACOT1, HEATR4 (Q351L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261835	NM_001037161.2(ACOT1):c.917A>T (p.Lys306Met)	ACOT1, HEATR4 (K306M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261829	NM_001037161.2(ACOT1):c.850G>A (p.Val284Met)	ACOT1, HEATR4 (V284M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3261823	NM_001037161.2(ACOT1):c.926T>C (p.Ile309Thr)	ACOT1, HEATR4 (I309T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261819	NM_001037161.2(ACOT1):c.416T>G (p.Val139Gly)	ACOT1, HEATR4 (V139G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3137925	NM_001365788.1(ACOT6):c.722T>A (p.Met241Lys)	ACOT6, HEATR4 (M241K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137862	NM_001365788.1(ACOT6):c.662T>A (p.Val221Glu)	ACOT6, HEATR4 (V221E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137857	NM_152331.4(ACOT4):c.980A>G (p.His327Arg)	ACOT4, HEATR4 (H327R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137833	NM_152331.4(ACOT4):c.779G>T (p.Ser260Ile)	ACOT4, HEATR4 (S260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137824	NM_152331.4(ACOT4):c.704C>G (p.Ala235Gly)	ACOT4, HEATR4 (A235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137812	NM_152331.4(ACOT4):c.624C>G (p.Phe208Leu)	ACOT4, HEATR4 (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137801	NM_152331.4(ACOT4):c.48C>G (p.Asn16Lys)	ACOT4, HEATR4 (N16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137788	NM_152331.4(ACOT4):c.287G>C (p.Arg96Pro)	ACOT4, HEATR4 (R96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137783	NM_152331.4(ACOT4):c.194C>T (p.Ala65Val)	ACOT4, HEATR4 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137775	NM_152331.4(ACOT4):c.142G>A (p.Ala48Thr)	ACOT4, HEATR4 (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137760	NM_152331.4(ACOT4):c.1115C>G (p.Ala372Gly)	ACOT4, HEATR4 (A372G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137749	NM_006821.6(ACOT2):c.820A>G (p.Met274Val)	ACOT2, HEATR4 (M274V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3137744	NM_006821.6(ACOT2):c.758A>G (p.Tyr253Cys)	ACOT2, HEATR4 (Y253C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137740	NM_006821.6(ACOT2):c.679G>A (p.Gly227Arg)	ACOT2, HEATR4 (G227R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137733	NM_006821.6(ACOT2):c.581C>G (p.Pro194Arg)	ACOT2, HEATR4 (P194R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137730	NM_006821.6(ACOT2):c.578C>T (p.Pro193Leu)	ACOT2, HEATR4 (P193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137718	NM_006821.6(ACOT2):c.473G>T (p.Arg158Leu)	ACOT2, HEATR4 (R158L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137711	NM_006821.6(ACOT2):c.432G>C (p.Trp144Cys)	ACOT2, HEATR4 (W144C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137687	NM_006821.6(ACOT2):c.263T>C (p.Leu88Pro)	ACOT2, HEATR4 (L88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137685	NM_006821.6(ACOT2):c.25C>T (p.His9Tyr)	ACOT2, HEATR4 (H9Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3137679	NM_006821.6(ACOT2):c.218G>A (p.Gly73Asp)	ACOT2, HEATR4 (G73D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137678	NM_006821.6(ACOT2):c.1435A>G (p.Ile479Val)	ACOT2, HEATR4 (I479V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137675	NM_006821.6(ACOT2):c.1426G>A (p.Glu476Lys)	ACOT2, HEATR4 (E279K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3137672	NM_006821.6(ACOT2):c.1423C>T (p.His475Tyr)	ACOT2, HEATR4 (H475Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137668	NM_006821.6(ACOT2):c.1363A>G (p.Met455Val)	ACOT2, HEATR4 (M258V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137662	NM_006821.6(ACOT2):c.1354G>A (p.Ala452Thr)	ACOT2, HEATR4 (A452T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137654	NM_006821.6(ACOT2):c.1325G>T (p.Ser442Ile)	ACOT2, HEATR4 (S442I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137646	NM_006821.6(ACOT2):c.1221T>A (p.His407Gln)	ACOT2, HEATR4 (H407Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137308	NM_001037161.2(ACOT1):c.722T>C (p.Met241Thr)	ACOT1, HEATR4 (M241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137306	NM_001037161.2(ACOT1):c.704G>A (p.Gly235Asp)	ACOT1, HEATR4 (G235D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137302	NM_001037161.2(ACOT1):c.605C>T (p.Thr202Met)	ACOT1, HEATR4 (T202M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137300	NM_001037161.2(ACOT1):c.535G>C (p.Ala179Pro)	ACOT1, HEATR4 (A179P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 3104811	NM_001220484.1(HEATR4):c.761G>C (p.Ser254Thr)	ACOT1, HEATR4 (S254T)	Single nucleotide variant (missense variant)	not specified	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 3104809	NM_001220484.1(HEATR4):c.574C>T (p.Leu192Phe)	ACOT1, HEATR4 (L192F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3104805	NM_001220484.1(HEATR4):c.2918G>A (p.Arg973His)	HEATR4 (R973H)	Single nucleotide variant (missense variant)	not specified	GLikely 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 3104803	NM_001220484.1(HEATR4):c.2695G>C (p.Val899Leu)	ACOT1, HEATR4 (V899L)	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 3104801	NM_001220484.1(HEATR4):c.2489G>A (p.Arg830Gln)	ACOT1, HEATR4 (R830Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 3104795	NM_001220484.1(HEATR4):c.197T>C (p.Met66Thr)	ACOT1, HEATR4 (M66T)	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 3104792	NM_001220484.1(HEATR4):c.1466A>T (p.Asp489Val)	ACOT1, HEATR4 (D489V)	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 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 2798877	NM_152331.4(ACOT4):c.560C>A (p.Ala187Asp)	ACOT4, HEATR4 (A187D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2684733	GRCh37/hg19 14q24.2-24.3(chr14:72984321-73975604)x3	DCAF4, DPF3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
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 2644362	NM_001220484.1(HEATR4):c.473G>A (p.Arg158Gln)	ACOT1, HEATR4 (R158Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617146	NM_152331.4(ACOT4):c.406C>G (p.Arg136Gly)	ACOT4, HEATR4 (R136G)	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 2616268	NM_001037161.2(ACOT1):c.520C>T (p.Arg174Trp)	ACOT1, HEATR4 (R174W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2605249	NM_001220484.1(HEATR4):c.2095G>A (p.Asp699Asn)	ACOT1, HEATR4 (D699N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602177	NM_152331.4(ACOT4):c.1167G>C (p.Arg389Ser)	ACOT4, HEATR4 (R389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601658	NM_006821.6(ACOT2):c.454T>G (p.Leu152Val)	ACOT2, HEATR4 (L152V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599703	NM_001037161.2(ACOT1):c.849G>C (p.Lys283Asn)	ACOT1, HEATR4 (K283N)	Single nucleotide variant (missense variant +1 more)	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 2597114	NM_152331.4(ACOT4):c.898G>A (p.Val300Ile)	ACOT4, HEATR4 (V300I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592216	NM_006821.6(ACOT2):c.332A>G (p.His111Arg)	ACOT2, HEATR4 (H111R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592068	NM_152331.4(ACOT4):c.554C>T (p.Thr185Met)	ACOT4, HEATR4 (T185M)	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

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