ClinVar for MedGen (Select 370665) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021457	NM_000183.3(HADHB):c.933+8T>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3018516	NM_000183.3(HADHB):c.897C>T (p.Pro299=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3017580	NM_000183.3(HADHB):c.714G>A (p.Arg238=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3015493	NM_000183.3(HADHB):c.1026T>C (p.Tyr342=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 3015461	NM_000183.3(HADHB):c.1212T>C (p.Gly404=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3013367	NM_000183.3(HADHB):c.355-13_355-12del	HADHB	Microsatellite (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3012918	NM_000183.3(HADHB):c.741C>T (p.Arg247=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3009719	NM_000183.3(HADHB):c.1224+1G>A	HADHB	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 3008950	NM_000183.3(HADHB):c.1389+10A>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3008736	NM_000183.3(HADHB):c.924T>G (p.Ser308=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3008578	NM_000183.3(HADHB):c.1353G>A (p.Gln451=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3006020	NM_000183.3(HADHB):c.1225-11G>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3003819	NM_000183.3(HADHB):c.254+17T>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 3003061	NM_000183.3(HADHB):c.1014-4C>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2999651	NM_000183.3(HADHB):c.64+22dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 2999479	NM_000183.3(HADHB):c.417C>T (p.Ile139=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2999014	NM_000183.3(HADHB):c.65-15T>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2997573	NM_000183.3(HADHB):c.1309T>C (p.Leu437=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2995983	NM_000183.3(HADHB):c.204C>T (p.Gly68=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2993812	NM_000183.3(HADHB):c.934-16C>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2993781	NM_000183.3(HADHB):c.631-11T>C	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2991276	NM_000183.3(HADHB):c.451T>C (p.Leu151=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2991000	NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)	HADHB (L11P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2989807	NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)	HADHB (E144K +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2986504	NM_000183.3(HADHB):c.209+20A>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2978279	NM_000183.3(HADHB):c.812-14C>G	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2973968	NM_000183.3(HADHB):c.828C>G (p.Thr276=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2973436	NM_000183.3(HADHB):c.1013+21_1013+25dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2972732	NM_000183.3(HADHB):c.315A>G (p.Thr105=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2969469	NM_000183.3(HADHB):c.933+6del	HADHB	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency	GUncertain significance
Select item 2969359	NM_000183.3(HADHB):c.564G>A (p.Lys188=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2969132	NM_000183.3(HADHB):c.1350C>A (p.Gly450=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2963819	NM_000183.3(HADHB):c.138A>G (p.Leu46=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2960755	NM_000183.3(HADHB):c.210-10C>T	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2959582	NM_000183.3(HADHB):c.812-6dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 2958677	NM_000183.3(HADHB):c.1062-9dup	HADHB	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency	GBenign
Select item 2957115	NM_000183.3(HADHB):c.168G>T (p.Val56=)	HADHB	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency	GLikely benign
Select item 2956781	NM_000183.3(HADHB):c.934-13G>A	HADHB	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency	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
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

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