HADHA[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1202793	NM_000182.5(HADHA):c.1085+282C>T	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2934943	NM_000182.5(HADHA):c.1085+19A>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1626308	NM_000182.5(HADHA):c.1085+17G>A	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2186130	NM_000182.5(HADHA):c.1085+16C>T	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2953689	NM_000182.5(HADHA):c.1085+15A>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2936671	NM_000182.5(HADHA):c.1085+12T>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2002831	NM_000182.5(HADHA):c.1085+10del	HADHA	Deletion (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2179280	NM_000182.5(HADHA):c.1080T>G (p.Asp360Glu)	HADHA (D360E)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GBenign
Select item 1674575	NM_000182.5(HADHA):c.1077G>A (p.Lys359=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 235806	NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)	HADHA (Q358K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 952941	NM_000182.5(HADHA):c.1070del (p.Pro357fs)	HADHA (P357fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 794255	NM_000182.5(HADHA):c.1065A>C (p.Gly355=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 984464	NM_000182.5(HADHA):c.1059del (p.Lys353fs)	HADHA (K353fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2682735	NM_000182.5(HADHA):c.1050GAA[1] (p.Lys351del)	HADHA (K351del)	Microsatellite (inframe deletion)	not provided	GUncertain significance
Select item 2946757	NM_000182.5(HADHA):c.1053G>A (p.Lys351=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 370523	NM_000182.5(HADHA):c.1052del (p.Lys351fs)	HADHA (K351fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1123964	NM_000182.5(HADHA):c.1050G>A (p.Lys350=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1411170	NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg)	HADHA (K350R)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 794895	NM_000182.5(HADHA):c.1044G>A (p.Leu348=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2936039	NM_000182.5(HADHA):c.1042C>T (p.Leu348=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2087545	NM_000182.5(HADHA):c.1041C>A (p.Val347=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2161618	NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)	HADHA (V347I)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 1914526	NM_000182.5(HADHA):c.1032T>C (p.His344=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 808704	NM_000182.5(HADHA):c.1031A>T (p.His344Leu)	HADHA (H344L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035761	NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)	HADHA (Y343*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 8734	NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro)	HADHA (L342P)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GPathogenic
Select item 2940660	NM_000182.5(HADHA):c.1023A>G (p.Gly341=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1144234	NM_000182.5(HADHA):c.1015T>C (p.Leu339=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2057700	NM_000182.5(HADHA):c.1014C>G (p.Ala338=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 725225	NM_000182.5(HADHA):c.1014C>T (p.Ala338=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1959649	NM_000182.5(HADHA):c.1011G>A (p.Lys337=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1380200	NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys)	HADHA (E335K)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GUncertain significance
Select item 2942354	NM_000182.5(HADHA):c.1002del (p.Glu335fs)	HADHA (E335fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 1147310	NM_000182.5(HADHA):c.999C>A (p.Thr333=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2042976	NM_000182.5(HADHA):c.995T>C (p.Met332Thr)	HADHA (M332T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1422942	NM_000182.5(HADHA):c.995T>G (p.Met332Arg)	HADHA (M332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3104140	NM_000182.5(HADHA):c.994A>G (p.Met332Val)	HADHA (M332V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1594876	NM_000182.5(HADHA):c.990T>C (p.Leu330=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2432360	NM_000182.5(HADHA):c.985G>C (p.Glu329Gln)	HADHA (E329Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2929402	NM_000182.5(HADHA):c.984A>G (p.Gly328=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 203744	NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)	HADHA (G328R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1094413	NM_000182.5(HADHA):c.981T>C (p.Phe327=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1482399	NM_000182.5(HADHA):c.976-1G>T	HADHA	Single nucleotide variant (splice acceptor variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 2675972	NM_000182.5(HADHA):c.976-2A>G	HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1099452	NM_000182.5(HADHA):c.976-7T>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2032109	NM_000182.5(HADHA):c.976-10T>A	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2947885	NM_000182.5(HADHA):c.976-12T>C	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2934307	NM_000182.5(HADHA):c.976-18T>C	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1613432	NM_000182.5(HADHA):c.976-19A>C	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2932679	NM_000182.5(HADHA):c.976-20C>T	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2933212	NM_000182.5(HADHA):c.975+20A>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2026202	NM_000182.5(HADHA):c.975+17dup	HADHA	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2201104	NM_000182.5(HADHA):c.975+12del	HADHA	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1357029	NM_000182.5(HADHA):c.975+6C>T	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 555376	NM_000182.5(HADHA):c.975G>A (p.Gln325=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 3104139	NM_000182.5(HADHA):c.968A>T (p.Glu323Val)	HADHA (E323V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1420102	NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)	HADHA	Microsatellite (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 983585	NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter)	HADHA (Y320*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 2675969	NM_000182.5(HADHA):c.959del (p.Tyr320fs)	HADHA (Y320fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2936740	NM_000182.5(HADHA):c.957T>C (p.Gly319=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2947938	NM_000182.5(HADHA):c.944_956del (p.Gly315fs)	HADHA (G315fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 203743	NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)	HADHA (G319S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2927894	NM_000182.5(HADHA):c.954C>A (p.Ala318=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 741764	NM_000182.5(HADHA):c.954C>T (p.Ala318=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2148534	NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)	HADHA (G315E)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 335382	NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)	HADHA (G311A)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 2950320	NM_000182.5(HADHA):c.930_931del (p.Gly311fs)	HADHA (G311fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 1619285	NM_000182.5(HADHA):c.930T>C (p.Thr310=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1131795	NM_000182.5(HADHA):c.924A>G (p.Val308=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2675962	NM_000182.5(HADHA):c.919-1G>A	HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 193564	NM_000182.5(HADHA):c.919-2A>G	HADHA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1582707	NM_000182.5(HADHA):c.919-7T>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1592497	NM_000182.5(HADHA):c.919-10T>C	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2929282	NM_000182.5(HADHA):c.919-11A>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2947259	NM_000182.5(HADHA):c.919-15T>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1193627	NM_000182.5(HADHA):c.919-165G>C	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209077	NM_000182.5(HADHA):c.918+82A>G	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213326	NM_000182.5(HADHA):c.918+57C>G	HADHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2936764	NM_000182.5(HADHA):c.918+20C>T	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 383913	NM_000182.5(HADHA):c.918+19T>C	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GLikely benign
Select item 2928180	NM_000182.5(HADHA):c.918+16T>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 1935770	NM_000182.5(HADHA):c.918+15A>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1695860	NM_000182.5(HADHA):c.918+2T>A	HADHA	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 453019	NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)	HADHA (I305T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 8736	NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)	HADHA (I305N)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 521419	NM_000182.5(HADHA):c.911T>C (p.Ile304Thr)	HADHA (I304T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2146171	NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)	HADHA (P301T)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 854152	NM_000182.5(HADHA):c.896C>A (p.Pro299His)	HADHA (P299H)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 2928078	NM_000182.5(HADHA):c.893del (p.Tyr298fs)	HADHA (Y298fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 1087329	NM_000182.5(HADHA):c.891T>A (p.Leu297=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2943500	NM_000182.5(HADHA):c.882T>A (p.Thr294=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 798795	NM_000182.5(HADHA):c.882T>C (p.Thr294=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2947714	NM_000182.5(HADHA):c.879G>A (p.Gln293=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2921965	NM_000182.5(HADHA):c.878dup (p.Thr294fs)	HADHA (T294fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2675974	NM_000182.5(HADHA):c.874A>T (p.Lys292Ter)	HADHA (K292*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1499619	NM_000182.5(HADHA):c.872G>A (p.Arg291Gln)	HADHA (R291Q)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 8737	NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)	HADHA (R291*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic
Select item 388882	NM_000182.5(HADHA):c.870G>A (p.Val290=)	HADHA	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 898819	NM_000182.5(HADHA):c.869T>C (p.Val290Ala)	HADHA (V290A)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 792556	NM_000182.5(HADHA):c.864A>G (p.Glu288=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign

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