ClinVar for MedGen (Select 370665) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25723791.	NM_000183.3(HADHB):c.520C>T (p.Arg174Cys) GRCh37: Chr2:26501559 GRCh38: Chr2:26278691	HADHB	R152C, R159C, R174C	Mitochondrial trifunctional protein deficiency	Likely pathogenic	criteria provided, single submitter
Select item 25038992.	NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del GRCh37: Chr2:26467859-26486247	HADHB		Mitochondrial trifunctional protein deficiency	Likely pathogenic (Apr 19, 2023)	criteria provided, single submitter
Select item 24323623.	NM_000183.3(HADHB):c.1399A>C (p.Met467Leu) GRCh37: Chr2:26512795 GRCh38: Chr2:26289927	HADHB	M445L, M452L, M467L	Mitochondrial trifunctional protein deficiency	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 24323614.	NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp) GRCh37: Chr2:26508302 GRCh38: Chr2:26285434	HADHB	N396D, N403D, N418D	Mitochondrial trifunctional protein deficiency	Uncertain significance (Jan 25, 2023)	criteria provided, single submitter
Select item 24225505.	NC_000002.11:g.(?_26512766)_(26512821_?)del GRCh37: Chr2:26512766-26512821	HADHB		Mitochondrial trifunctional protein deficiency	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 24225496.	NC_000002.11:g.(?_26414119)_(26462031_?)del GRCh37: Chr2:26414119-26462031	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 24225487.	NC_000002.11:g.(?_26416426)_(26418121_?)del GRCh37: Chr2:26416426-26418121	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 24225478.	NC_000002.11:g.(?_26455008)_(26457243_?)dup GRCh37: Chr2:26455008-26457243	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 24208269.	NM_000183.3(HADHB):c.863A>G (p.Gln288Arg) GRCh37: Chr2:26502913 GRCh38: Chr2:26280045	HADHB	Q266R, Q273R, Q288R	Mitochondrial trifunctional protein deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 241880410.	NM_000183.3(HADHB):c.389C>T (p.Pro130Leu) GRCh37: Chr2:26499975 GRCh38: Chr2:26277107	HADHB	P108L, P115L, P130L	Mitochondrial trifunctional protein deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 241827211.	NM_000182.5(HADHA):c.1266G>A (p.Arg422=) GRCh37: Chr2:26424144 GRCh38: Chr2:26201275	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 241777712.	NM_000183.3(HADHB):c.508G>A (p.Asp170Asn) GRCh37: Chr2:26501547 GRCh38: Chr2:26278679	HADHB	D148N, D155N, D170N	Mitochondrial trifunctional protein deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 241585213.	NM_000182.5(HADHA):c.1776T>C (p.Gly592=) GRCh37: Chr2:26416555 GRCh38: Chr2:26193686	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 241363614.	NM_000182.5(HADHA):c.45C>T (p.Ala15=) GRCh37: Chr2:26467420 GRCh38: Chr2:26244552	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 241334315.	NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys) GRCh37: Chr2:26416530 GRCh38: Chr2:26193661	GAREM2, HADHA	E601K	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 220302416.	NM_000183.3(HADHB):c.1150-1G>T GRCh37: Chr2:26507750 GRCh38: Chr2:26284882	HADHB		Mitochondrial trifunctional protein deficiency	Likely pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 220260117.	NM_000183.3(HADHB):c.481G>A (p.Val161Met) GRCh37: Chr2:26501520 GRCh38: Chr2:26278652	HADHB	V146M, V139M, V161M	Mitochondrial trifunctional protein deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 220139518.	NM_000182.5(HADHA):c.181-17A>G GRCh37: Chr2:26459873 GRCh38: Chr2:26237005	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 220126019.	NM_000182.5(HADHA):c.453+12C>G GRCh37: Chr2:26457073 GRCh38: Chr2:26234205	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 220110420.	NM_000182.5(HADHA):c.975+12del GRCh37: Chr2:26435427 GRCh38: Chr2:26212558	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 220064821.	NM_000182.5(HADHA):c.1393-3C>T GRCh37: Chr2:26420649 GRCh38: Chr2:26197780	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 219987822.	NM_000183.3(HADHB):c.1319C>G (p.Ala440Gly) GRCh37: Chr2:26508369 GRCh38: Chr2:26285501	HADHB	A425G, A418G, A440G	Mitochondrial trifunctional protein deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 219837423.	NM_000182.5(HADHA):c.1623T>C (p.Asp541=) GRCh37: Chr2:26417505 GRCh38: Chr2:26194636	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 219814224.	NM_000183.3(HADHB):c.279C>T (p.Val93=) GRCh37: Chr2:26496543 GRCh38: Chr2:26273675	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 219747725.	NM_000182.5(HADHA):c.110-12T>C GRCh37: Chr2:26461884 GRCh38: Chr2:26239016	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 219730126.	NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg) GRCh37: Chr2:26415248 GRCh38: Chr2:26192379	GAREM2, HADHA	K644R	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 219470927.	NM_000182.5(HADHA):c.1392+15G>A GRCh37: Chr2:26424003 GRCh38: Chr2:26201134	HADHA, GAREM2		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 219453228.	NM_000183.3(HADHB):c.1150-20T>G GRCh37: Chr2:26507731 GRCh38: Chr2:26284863	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 219379329.	NM_000183.3(HADHB):c.50G>A (p.Trp17Ter) GRCh37: Chr2:26477172 GRCh38: Chr2:26254304	HADHB	W17*	Mitochondrial trifunctional protein deficiency	Pathogenic (Sep 14, 2022)	criteria provided, single submitter
Select item 219190330.	NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu) GRCh37: Chr2:26417963 GRCh38: Chr2:26195094	GAREM2, HADHA	K540E	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 219056131.	NM_000183.3(HADHB):c.221T>G (p.Leu74Arg) GRCh37: Chr2:26492832 GRCh38: Chr2:26269964	HADHB	L52R, L74R	Mitochondrial trifunctional protein deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 219050232.	NM_000182.5(HADHA):c.651G>T (p.Leu217=) GRCh37: Chr2:26453085 GRCh38: Chr2:26230217	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 218770233.	NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln) GRCh37: Chr2:26414202 GRCh38: Chr2:26191333	GAREM2, HADHA	E737Q	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 218613034.	NM_000182.5(HADHA):c.1085+16C>T GRCh37: Chr2:26432633 GRCh38: Chr2:26209764	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 218109235.	NM_000182.5(HADHA):c.217T>C (p.Ser73Pro) GRCh37: Chr2:26459820 GRCh38: Chr2:26236952	HADHA	S73P	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 218080836.	NM_000183.3(HADHB):c.1150-18G>A GRCh37: Chr2:26507733 GRCh38: Chr2:26284865	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 217986937.	NM_000182.5(HADHA):c.258A>G (p.Arg86=) GRCh37: Chr2:26459779 GRCh38: Chr2:26236911	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 217937838.	NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs) GRCh37: Chr2:26414242-26414243 GRCh38: Chr2:26191373-26191374	GAREM2, HADHA	Y724fs	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 217928039.	NM_000182.5(HADHA):c.1080T>G (p.Asp360Glu) GRCh37: Chr2:26432654 GRCh38: Chr2:26209785	HADHA	D360E	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Benign (Aug 21, 2022)	criteria provided, single submitter
Select item 217918340.	NM_000183.3(HADHB):c.630+16G>A GRCh37: Chr2:26501685 GRCh38: Chr2:26278817	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 217904841.	NM_000183.3(HADHB):c.109+5A>G GRCh37: Chr2:26477347 GRCh38: Chr2:26254479	HADHB		Mitochondrial trifunctional protein deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 217877042.	NM_000182.5(HADHA):c.314+2T>G GRCh37: Chr2:26459721 GRCh38: Chr2:26236853	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, not provided	Likely pathogenic (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217828243.	NM_000182.5(HADHA):c.785A>C (p.Lys262Thr) GRCh37: Chr2:26437936 GRCh38: Chr2:26215067	HADHA	K262T	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Nov 25, 2021)	criteria provided, single submitter
Select item 217762544.	NM_000182.5(HADHA):c.799+5G>A GRCh37: Chr2:26437917 GRCh38: Chr2:26215048	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 217692645.	NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn) GRCh37: Chr2:26415218 GRCh38: Chr2:26192349	GAREM2, HADHA	S654N	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 217667246.	NM_000182.5(HADHA):c.454-12A>G GRCh37: Chr2:26455159 GRCh38: Chr2:26232291	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 217354147.	NM_000182.5(HADHA):c.130G>A (p.Gly44Arg) GRCh37: Chr2:26461852 GRCh38: Chr2:26238984	HADHA	G44R	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 217114448.	NM_000183.3(HADHB):c.1071T>C (p.Tyr357=) GRCh37: Chr2:26506994 GRCh38: Chr2:26284126	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 217066349.	NM_000183.3(HADHB):c.210-17T>A GRCh37: Chr2:26492804 GRCh38: Chr2:26269936	HADHB		Mitochondrial trifunctional protein deficiency	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 217039150.	NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro) GRCh37: Chr2:26416523 GRCh38: Chr2:26193654	GAREM2, HADHA	L603P	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 216892551.	NM_000182.5(HADHA):c.67+18G>A GRCh37: Chr2:26467380 GRCh38: Chr2:26244512	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 216672952.	NM_000182.5(HADHA):c.594G>A (p.Leu198=) GRCh37: Chr2:26453142 GRCh38: Chr2:26230274	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 216655353.	NM_000182.5(HADHA):c.711A>G (p.Ile237Met) GRCh37: Chr2:26438010 GRCh38: Chr2:26215141	HADHA	I237M	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 216581754.	NM_000182.5(HADHA):c.560G>A (p.Arg187Lys) GRCh37: Chr2:26455041 GRCh38: Chr2:26232173	HADHA	R187K	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 216490855.	NM_000183.3(HADHB):c.1014-18C>G GRCh37: Chr2:26505854 GRCh38: Chr2:26282986	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216451256.	NM_000182.5(HADHA):c.1538C>T (p.Thr513Met) GRCh37: Chr2:26418043 GRCh38: Chr2:26195174	GAREM2, HADHA	T513M	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Inborn genetic diseases	Uncertain significance (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216396657.	NM_000183.3(HADHB):c.1061+3A>G GRCh37: Chr2:26505922 GRCh38: Chr2:26283054	HADHB		Mitochondrial trifunctional protein deficiency	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 216161858.	NM_000182.5(HADHA):c.1039G>A (p.Val347Ile) GRCh37: Chr2:26432695 GRCh38: Chr2:26209826	HADHA	V347I	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Oct 6, 2022)	criteria provided, single submitter
Select item 216147859.	NM_000182.5(HADHA):c.1393-17dup GRCh37: Chr2:26420662-26420663 GRCh38: Chr2:26197793-26197794	GAREM2, HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 216141960.	NM_000183.3(HADHB):c.106C>T (p.Pro36Ser) GRCh37: Chr2:26477339 GRCh38: Chr2:26254471	HADHB	P36S	Mitochondrial trifunctional protein deficiency	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 215787261.	NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp) GRCh37: Chr2:26414217 GRCh38: Chr2:26191348	GAREM2, HADHA	R732W	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 215742062.	NM_000182.5(HADHA):c.17C>T (p.Ala6Val) GRCh37: Chr2:26467448 GRCh38: Chr2:26244580	HADHA	A6V	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 215617063.	NM_000183.3(HADHB):c.915T>G (p.Ala305=) GRCh37: Chr2:26502965 GRCh38: Chr2:26280097	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 215502964.	NM_000183.3(HADHB):c.109G>C (p.Ala37Pro) GRCh37: Chr2:26477342 GRCh38: Chr2:26254474	HADHB	A37P	Mitochondrial trifunctional protein deficiency	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 215458265.	NM_000182.5(HADHA):c.512C>T (p.Thr171Ile) GRCh37: Chr2:26455089 GRCh38: Chr2:26232221	HADHA	T171I	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 215456066.	NM_000182.5(HADHA):c.454-5C>T GRCh37: Chr2:26455152 GRCh38: Chr2:26232284	HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 215321767.	NM_000182.5(HADHA):c.1220+10CT[3] GRCh37: Chr2:26426912-26426915 GRCh38: Chr2:26204043-26204046	GAREM2, HADHA		Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 215318868.	NM_000182.5(HADHA):c.16G>A (p.Ala6Thr) GRCh37: Chr2:26467449 GRCh38: Chr2:26244581	HADHA	A6T	Inborn genetic diseases, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency	Conflicting interpretations of pathogenicity (Jun 5, 2023)	criteria provided, conflicting interpretations
Select item 215050169.	NM_000182.5(HADHA):c.2001-13T>C GRCh37: Chr2:26414510 GRCh38: Chr2:26191641	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 215004370.	NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr) GRCh37: Chr2:26427022 GRCh38: Chr2:26204153	GAREM2, HADHA	A377T	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 214960371.	NM_000183.3(HADHB):c.1399A>G (p.Met467Val) GRCh37: Chr2:26512795 GRCh38: Chr2:26289927	HADHB	M467V, M445V, M452V	Mitochondrial trifunctional protein deficiency	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 214915772.	NM_000182.5(HADHA):c.230A>G (p.Asn77Ser) GRCh37: Chr2:26459807 GRCh38: Chr2:26236939	HADHA	N77S	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 214853473.	NM_000182.5(HADHA):c.944G>A (p.Gly315Glu) GRCh37: Chr2:26435470 GRCh38: Chr2:26212601	HADHA	G315E	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 214751674.	NM_000183.3(HADHB):c.1287A>G (p.Pro429=) GRCh37: Chr2:26508337 GRCh38: Chr2:26285469	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 214715275.	NM_000183.3(HADHB):c.507C>T (p.Ser169=) GRCh37: Chr2:26501546 GRCh38: Chr2:26278678	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 214699876.	NM_000182.5(HADHA):c.704G>A (p.Arg235Gln) GRCh37: Chr2:26438017 GRCh38: Chr2:26215148	HADHA	R235Q	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 214650977.	NM_000182.5(HADHA):c.1480-139C>G GRCh37: Chr2:26418240 GRCh38: Chr2:26195371	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 214617178.	NM_000182.5(HADHA):c.901C>A (p.Pro301Thr) GRCh37: Chr2:26437329 GRCh38: Chr2:26214460	HADHA	P301T	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 214516179.	NM_000183.3(HADHB):c.91C>G (p.Gln31Glu) GRCh37: Chr2:26477324 GRCh38: Chr2:26254456	HADHB	Q31E	Mitochondrial trifunctional protein deficiency	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 214429080.	NM_000182.5(HADHA):c.2000+5G>C GRCh37: Chr2:26415174 GRCh38: Chr2:26192305	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 214401881.	NM_000182.5(HADHA):c.496A>G (p.Lys166Glu) GRCh37: Chr2:26455105 GRCh38: Chr2:26232237	HADHA	K166E	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 214339882.	NM_000182.5(HADHA):c.13C>T (p.Arg5Trp) GRCh37: Chr2:26467452 GRCh38: Chr2:26244584	HADHA	R5W	Inborn genetic diseases, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214211183.	NM_000183.3(HADHB):c.388C>T (p.Pro130Ser) GRCh37: Chr2:26499974 GRCh38: Chr2:26277106	HADHB	P115S, P108S, P130S	Mitochondrial trifunctional protein deficiency	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 213899784.	NM_000183.3(HADHB):c.254C>T (p.Thr85Met) GRCh37: Chr2:26492865 GRCh38: Chr2:26269997	HADHB	T85M, T63M	Mitochondrial trifunctional protein deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 213571085.	NM_000182.5(HADHA):c.2147-2A>G GRCh37: Chr2:26414266 GRCh38: Chr2:26191397	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 213545186.	NM_000182.5(HADHA):c.2147-8C>T GRCh37: Chr2:26414272 GRCh38: Chr2:26191403	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 213507787.	NM_000183.3(HADHB):c.417del (p.Ser140fs) GRCh37: Chr2:26500003 GRCh38: Chr2:26277135	HADHB	S140fs, S118fs, S125fs	Mitochondrial trifunctional protein deficiency	Pathogenic (Jul 20, 2022)	criteria provided, single submitter
Select item 213438888.	NM_000182.5(HADHA):c.1209del (p.Val404fs) GRCh37: Chr2:26426942 GRCh38: Chr2:26204073	GAREM2, HADHA	V404fs	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 213058089.	NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg) GRCh37: Chr2:26417476 GRCh38: Chr2:26194607	GAREM2, HADHA	L551R	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 213007590.	NM_000183.3(HADHB):c.930C>A (p.Phe310Leu) GRCh37: Chr2:26502980 GRCh38: Chr2:26280112	HADHB	F295L, F288L, F310L	Mitochondrial trifunctional protein deficiency	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212904291.	NM_000182.5(HADHA):c.297T>C (p.Ile99=) GRCh37: Chr2:26459740 GRCh38: Chr2:26236872	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212819592.	NM_000182.5(HADHA):c.1812C>T (p.Gly604=) GRCh37: Chr2:26416519 GRCh38: Chr2:26193650	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212750493.	NM_000183.3(HADHB):c.652T>C (p.Ser218Pro) GRCh37: Chr2:26502024 GRCh38: Chr2:26279156	HADHB	S196P, S203P, S218P	Mitochondrial trifunctional protein deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 212390194.	NM_000183.3(HADHB):c.150T>A (p.Asn50Lys) GRCh37: Chr2:26486288 GRCh38: Chr2:26263420	HADHB	N28K, N50K	Mitochondrial trifunctional protein deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212337895.	NM_000183.3(HADHB):c.223A>T (p.Met75Leu) GRCh37: Chr2:26492834 GRCh38: Chr2:26269966	HADHB	M75L, M53L	Mitochondrial trifunctional protein deficiency	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 212094296.	NM_000182.5(HADHA):c.160del (p.Ile54fs) GRCh37: Chr2:26461822 GRCh38: Chr2:26238954	HADHA	I54fs	Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212084497.	NM_000182.5(HADHA):c.540A>G (p.Pro180=) GRCh37: Chr2:26455061 GRCh38: Chr2:26232193	HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 212049798.	NM_000183.3(HADHB):c.90C>T (p.Ser30=) GRCh37: Chr2:26477323 GRCh38: Chr2:26254455	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211988599.	NM_000183.3(HADHB):c.1389+11G>A GRCh37: Chr2:26508450 GRCh38: Chr2:26285582	HADHB		Mitochondrial trifunctional protein deficiency	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 2117967100.	NM_000182.5(HADHA):c.1194C>T (p.Asp398=) GRCh37: Chr2:26426957 GRCh38: Chr2:26204088	GAREM2, HADHA		Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	Likely benign (Mar 27, 2022)	criteria provided, single submitter

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