ClinVar for MedGen (Select 778253) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2953910	NM_000182.5(HADHA):c.2076G>T (p.Gly692=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2953864	NM_000182.5(HADHA):c.799+13G>A	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)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2953192	NM_000182.5(HADHA):c.110-12T>A	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2952944	NM_000182.5(HADHA):c.1885+12C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2952568	NM_000182.5(HADHA):c.1413C>T (p.Ile471=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2952484	NM_000182.5(HADHA):c.30C>A (p.Leu10=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2952132	NM_000182.5(HADHA):c.1419C>G (p.Ala473=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2951545	NM_000182.5(HADHA):c.1131C>G (p.Ala377=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2951511	NM_000182.5(HADHA):c.1479+14A>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2951133	NM_000182.5(HADHA):c.750A>G (p.Gly250=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2951031	NM_000182.5(HADHA):c.1368C>T (p.His456=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2950838	NM_000182.5(HADHA):c.2194C>A (p.Arg732=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2950623	NM_000182.5(HADHA):c.2283C>T (p.Phe761=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2950334	NM_000182.5(HADHA):c.453+20_453+22del	HADHA	Deletion (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2950320	NM_000182.5(HADHA):c.930_931del (p.Gly311fs)	HADHA (G311fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2950171	NM_000182.5(HADHA):c.1921del (p.Glu641fs)	GAREM2, HADHA (E641fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2949847	NM_000182.5(HADHA):c.1683C>T (p.Ile561=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2949463	NM_000182.5(HADHA):c.2001-10C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2949406	NM_000182.5(HADHA):c.67+9T>C	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2949178	NM_000182.5(HADHA):c.1392+18G>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2948934	NM_000182.5(HADHA):c.67+18G>T	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2948846	NM_000182.5(HADHA):c.799+1G>A	HADHA	Single nucleotide variant (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 2948662	NM_000182.5(HADHA):c.637_638del (p.Lys213fs)	HADHA (K213fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2948078	NM_000182.5(HADHA):c.2085C>T (p.Ala695=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2948006	NM_000182.5(HADHA):c.110-14T>C	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2947969	NM_000182.5(HADHA):c.2241C>T (p.Cys747=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2947938	NM_000182.5(HADHA):c.944_956del (p.Gly315fs)	HADHA (G315fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2947918	NM_000182.5(HADHA):c.693T>C (p.Pro231=)	HADHA	Single nucleotide variant (synonymous 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)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2947730	NM_000182.5(HADHA):c.677-2A>G	HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 2947714	NM_000182.5(HADHA):c.879G>A (p.Gln293=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2947617	NM_000182.5(HADHA):c.2146+9C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2947613	NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)	GAREM2, HADHA	Deletion (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2947259	NM_000182.5(HADHA):c.919-15T>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2947218	NM_000182.5(HADHA):c.453+14A>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2946757	NM_000182.5(HADHA):c.1053G>A (p.Lys351=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2946660	NM_000182.5(HADHA):c.243T>C (p.Ala81=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2946474	NM_000182.5(HADHA):c.2001-14C>T	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2946233	NM_000182.5(HADHA):c.799+18dup	HADHA	Duplication (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2946190	NM_000182.5(HADHA):c.384G>A (p.Glu128=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2946075	NM_000182.5(HADHA):c.1479+17G>A	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2945796	NM_000182.5(HADHA):c.1690-20C>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2945712	NM_000182.5(HADHA):c.1689+19_1689+20del	GAREM2, HADHA	Microsatellite (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2945702	NM_000182.5(HADHA):c.1236G>T (p.Val412=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase 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 2943814	NM_000182.5(HADHA):c.180+14T>A	HADHA	Single nucleotide variant (intron 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)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2943329	NM_000182.5(HADHA):c.621T>C (p.Ile207=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942982	NM_000182.5(HADHA):c.67+13C>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942941	NM_000182.5(HADHA):c.574-13G>A	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942765	NM_000182.5(HADHA):c.1110G>C (p.Gly370=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942760	NM_000182.5(HADHA):c.1689+18G>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942747	NM_000182.5(HADHA):c.1886-13T>G	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942675	NM_000182.5(HADHA):c.677-16G>T	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942646	NM_000182.5(HADHA):c.627A>G (p.Ala209=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942564	NM_000182.5(HADHA):c.573+7C>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942406	NM_000182.5(HADHA):c.1183dup (p.Thr395fs)	GAREM2, HADHA (T395fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2942354	NM_000182.5(HADHA):c.1002del (p.Glu335fs)	HADHA (E335fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2942095	NM_000182.5(HADHA):c.1857G>C (p.Leu619=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2942031	NM_000182.5(HADHA):c.2268C>T (p.Ser756=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2941937	NM_000182.5(HADHA):c.314+8T>A	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2941790	NM_000182.5(HADHA):c.180+7C>G	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2941744	NM_000182.5(HADHA):c.1173T>C (p.Asp391=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2941578	NM_000182.5(HADHA):c.276A>G (p.Ser92=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2941576	NM_000182.5(HADHA):c.592T>C (p.Leu198=)	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 2940788	NM_000182.5(HADHA):c.454-13C>A	HADHA	Single nucleotide variant (intron 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 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 2940650	NM_000182.5(HADHA):c.677-17T>A	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 2940283	NM_000182.5(HADHA):c.110-15T>G	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=)	HADHA, GAREM2	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2940002	NM_000182.5(HADHA):c.134T>G (p.Val45Gly)	HADHA (V45G)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +1 more	GUncertain significance
Select item 2939655	NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)	HADHA (Q281*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
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 2939593	NM_000182.5(HADHA):c.567C>G (p.Pro189=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2939551	NM_000182.5(HADHA):c.314+17T>C	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2939509	NM_000182.5(HADHA):c.314+19G>A	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2939431	NM_000182.5(HADHA):c.314+11G>A	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 2938302	NM_000182.5(HADHA):c.314+15A>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2938217	NM_000182.5(HADHA):c.800-20A>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2937943	NM_000182.5(HADHA):c.849C>T (p.Tyr283=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2937575	NM_000182.5(HADHA):c.315-16T>A	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2937548	NM_000182.5(HADHA):c.2178C>T (p.Ala726=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2937535	NM_000182.5(HADHA):c.1886-44_1886-18dup	GAREM2, HADHA	Duplication (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2937211	NM_000182.5(HADHA):c.81C>T (p.Arg27=)	HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2937118	NM_000182.5(HADHA):c.1393-13T>C	GAREM2, HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2937105	NM_000182.5(HADHA):c.70dup (p.Tyr24fs)	HADHA (Y24fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 2936858	NM_000182.5(HADHA):c.2004A>T (p.Ser668=)	GAREM2, HADHA	Single nucleotide variant (synonymous variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2936764	NM_000182.5(HADHA):c.918+20C>T	HADHA	Single nucleotide variant (intron variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely benign

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