Related gene-specific medical variations for Gene (Select 150946) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362445	NM_000182.5(HADHA):c.1086-1_1088dup	GAREM2, HADHA	Duplication (splice acceptor variant)	Mitochondrial trifunctional protein deficiency 1	GLikely pathogenic
Select item 3352928	NM_000182.5(HADHA):c.1324G>A (p.Asp442Asn)	GAREM2, HADHA (D442N)	Single nucleotide variant (missense variant)	HADHA-related disorder	GUncertain significance
Select item 3346091	NM_000182.5(HADHA):c.1792C>T (p.His598Tyr)	GAREM2, HADHA (H598Y)	Single nucleotide variant (missense variant)	HADHA-related disorder	GUncertain significance
Select item 3336093	NM_000182.5(HADHA):c.1665G>A (p.Met555Ile)	GAREM2, HADHA (M555I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283418	NM_000182.5(HADHA):c.1678C>G (p.Arg560Gly)	GAREM2, HADHA (R560G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283416	NM_000182.5(HADHA):c.1777G>A (p.Val593Met)	GAREM2, HADHA (V593M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283415	NM_000182.5(HADHA):c.1355T>G (p.Leu452Arg)	GAREM2, HADHA (L452R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3283414	NM_000182.5(HADHA):c.1132C>G (p.Gln378Glu)	GAREM2, HADHA (Q378E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3241732	NM_000182.5(HADHA):c.1165del (p.Asp391fs)	GAREM2, HADHA (D391fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241731	NM_000182.5(HADHA):c.2081del (p.Leu694fs)	GAREM2, HADHA (L694fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241729	NM_000182.5(HADHA):c.1653_1668del (p.Ala552fs)	GAREM2, HADHA (A552fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241728	NM_000182.5(HADHA):c.1351del (p.Asp451fs)	GAREM2, HADHA (D451fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241727	NM_000182.5(HADHA):c.1096_1097dup (p.Leu367fs)	GAREM2, HADHA (L367fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3104135	NM_000182.5(HADHA):c.2171A>G (p.Tyr724Cys)	GAREM2, HADHA (Y724C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104133	NM_000182.5(HADHA):c.1333A>T (p.Ile445Phe)	GAREM2, HADHA (I445F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063981	NM_000182.5(HADHA):c.2010_2012del (p.Asp670del)	GAREM2, HADHA (D670del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 3034661	NM_000182.5(HADHA):c.1086-5del	GAREM2, HADHA	Deletion (intron variant)	HADHA-related disorder	GLikely benign
Select item 2954233	NM_000182.5(HADHA):c.1689+2T>C	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2953910	NM_000182.5(HADHA):c.2076G>T (p.Gly692=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2952944	NM_000182.5(HADHA):c.1885+12C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2952568	NM_000182.5(HADHA):c.1413C>T (p.Ile471=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2952132	NM_000182.5(HADHA):c.1419C>G (p.Ala473=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2951545	NM_000182.5(HADHA):c.1131C>G (p.Ala377=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2951511	NM_000182.5(HADHA):c.1479+14A>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2951031	NM_000182.5(HADHA):c.1368C>T (p.His456=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2950838	NM_000182.5(HADHA):c.2194C>A (p.Arg732=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2950623	NM_000182.5(HADHA):c.2283C>T (p.Phe761=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2950171	NM_000182.5(HADHA):c.1921del (p.Glu641fs)	GAREM2, HADHA (E641fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2949847	NM_000182.5(HADHA):c.1683C>T (p.Ile561=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2949463	NM_000182.5(HADHA):c.2001-10C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2949178	NM_000182.5(HADHA):c.1392+18G>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2948078	NM_000182.5(HADHA):c.2085C>T (p.Ala695=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2947969	NM_000182.5(HADHA):c.2241C>T (p.Cys747=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2947617	NM_000182.5(HADHA):c.2146+9C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2947613	NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)	GAREM2, HADHA	Deletion (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2946474	NM_000182.5(HADHA):c.2001-14C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2946075	NM_000182.5(HADHA):c.1479+17G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2945796	NM_000182.5(HADHA):c.1690-20C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2945712	NM_000182.5(HADHA):c.1689+19_1689+20del	GAREM2, HADHA	Microsatellite (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2945702	NM_000182.5(HADHA):c.1236G>T (p.Val412=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2944846	NM_000182.5(HADHA):c.1113G>T (p.Leu371=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2944631	NM_000182.5(HADHA):c.1220+17T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2943817	NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)	GAREM2, HADHA (E699fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2942765	NM_000182.5(HADHA):c.1110G>C (p.Gly370=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2942760	NM_000182.5(HADHA):c.1689+18G>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2942747	NM_000182.5(HADHA):c.1886-13T>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2942406	NM_000182.5(HADHA):c.1183dup (p.Thr395fs)	GAREM2, HADHA (T395fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2942095	NM_000182.5(HADHA):c.1857G>C (p.Leu619=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2942031	NM_000182.5(HADHA):c.2268C>T (p.Ser756=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2941744	NM_000182.5(HADHA):c.1173T>C (p.Asp391=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2941242	NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)	GAREM2, HADHA (F681fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2941188	NM_000182.5(HADHA):c.2235C>T (p.Thr745=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2940752	NM_000182.5(HADHA):c.2001-4G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2940451	NM_000182.5(HADHA):c.1689+16C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2940177	NM_000182.5(HADHA):c.1437C>T (p.Leu479=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2939611	NM_000182.5(HADHA):c.1690-17C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2939409	NM_000182.5(HADHA):c.2289G>A (p.Gln763=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2938650	NM_000182.5(HADHA):c.1392+19T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2938538	NM_000182.5(HADHA):c.2196G>A (p.Arg732=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2938516	NM_000182.5(HADHA):c.2001-18_2001-16dup	GAREM2, HADHA	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2937548	NM_000182.5(HADHA):c.2178C>T (p.Ala726=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2937535	NM_000182.5(HADHA):c.1886-44_1886-18dup	HADHA, GAREM2	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2937118	NM_000182.5(HADHA):c.1393-13T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2936858	NM_000182.5(HADHA):c.2004A>T (p.Ser668=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2936641	NM_000182.5(HADHA):c.2146+9C>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2936343	NM_000182.5(HADHA):c.2100A>G (p.Gly700=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2935920	NM_000182.5(HADHA):c.1690-16A>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2935513	NM_000182.5(HADHA):c.1220+10C>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2935497	NM_000182.5(HADHA):c.2291G>A (p.Ter764=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2935330	NM_000182.5(HADHA):c.1690-19T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2935068	NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)	GAREM2, HADHA (E421*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2934981	NM_000182.5(HADHA):c.2146+17G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2934668	NM_000182.5(HADHA):c.1761G>A (p.Leu587=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2934638	NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)	GAREM2, HADHA (K411fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2934549	NM_000182.5(HADHA):c.1220+1G>T	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 2934477	NM_000182.5(HADHA):c.2146+19G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2934396	NM_000182.5(HADHA):c.1854G>A (p.Leu618=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2934041	NM_000182.5(HADHA):c.2147-12_2147-11del	GAREM2, HADHA	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2933803	NM_000182.5(HADHA):c.1480-12T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2933646	NM_000182.5(HADHA):c.2199C>T (p.Leu733=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2933231	NM_000182.5(HADHA):c.1221-11G>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2932466	NM_000182.5(HADHA):c.1222T>C (p.Leu408=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2932378	NM_000182.5(HADHA):c.2172T>C (p.Tyr724=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2932210	NM_000182.5(HADHA):c.1620+8dup	GAREM2, HADHA	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GBenign
Select item 2932138	NM_000182.5(HADHA):c.2001-18A>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2931323	NM_000182.5(HADHA):c.1392+14T>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2931288	NM_000182.5(HADHA):c.1620+11G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2931282	NM_000182.5(HADHA):c.1220+16C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2930289	NM_000182.5(HADHA):c.2001-16C>G	HADHA, GAREM2	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2930260	NM_000182.5(HADHA):c.1392+14T>C	HADHA, GAREM2	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2929713	NM_000182.5(HADHA):c.1220+12C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2929001	NM_000182.5(HADHA):c.1220+16C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2928932	NM_000182.5(HADHA):c.1480-15G>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2928928	NM_000182.5(HADHA):c.1690-17C>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2928885	NM_000182.5(HADHA):c.1620+19G>C	HADHA, GAREM2	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2928835	NM_000182.5(HADHA):c.1620+13A>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2928085	NM_000182.5(HADHA):c.2146+12A>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2927833	NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)	GAREM2, HADHA (Y639*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2927722	NM_000182.5(HADHA):c.1886-14C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2927053	NM_000182.5(HADHA):c.1480-20C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign

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