ClinVar for Gene (Select 3030) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	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 3254781	NM_000182.5(HADHA):c.302G>T (p.Gly101Val)	HADHA (G101V)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3247342	NC_000002.11:g.(?_26414119)_(26414517_?)del	HADHA	Deletion	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 3247341	NC_000002.11:g.(?_26423998)_(26424209_?)del	HADHA	Deletion	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 3247340	NC_000002.11:g.(?_26414119)_(26502265_?)del	HADHA, HADHB	Deletion	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 3247331	NC_000002.11:g.(?_26426911)_(26512821_?)del	HADHA, HADHB	Deletion	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
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 3241730	NM_000182.5(HADHA):c.531_532insT (p.Ala178fs)	HADHA (A178fs)	Insertion (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 3241725	NM_000182.5(HADHA):c.573+2T>C	HADHA	Single nucleotide variant (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
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 3104139	NM_000182.5(HADHA):c.968A>T (p.Glu323Val)	HADHA (E323V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104138	NM_000182.5(HADHA):c.650T>G (p.Leu217Arg)	HADHA (L217R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104137	NM_000182.5(HADHA):c.475A>G (p.Arg159Gly)	HADHA (R159G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104136	NM_000182.5(HADHA):c.29T>C (p.Leu10Pro)	HADHA (L10P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3064942	NM_000182.5(HADHA):c.453G>A (p.Glu151=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency 1	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 3062643	GRCh37/hg19 2p23.3(chr2:25929370-26572068)x1	ADGRF3, ASXL2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3061732	NM_000182.5(HADHA):c.743C>A (p.Ala248Asp)	HADHA (A248D)	Single nucleotide variant (missense variant)	HADHA-related disorder	GUncertain significance
Select item 3034661	NM_000182.5(HADHA):c.1086-5del	GAREM2, HADHA	Deletion (intron variant)	HADHA-related disorder	GLikely benign
Select item 3027262	NM_000182.5(HADHA):c.193A>G (p.Ser65Gly)	HADHA (S65G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2953864	NM_000182.5(HADHA):c.799+13G>A	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein 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 2953192	NM_000182.5(HADHA):c.110-12T>A	HADHA	Single nucleotide variant (intron 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 2952484	NM_000182.5(HADHA):c.30C>A (p.Leu10=)	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 2951133	NM_000182.5(HADHA):c.750A>G (p.Gly250=)	HADHA	Single nucleotide variant (synonymous 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 2950334	NM_000182.5(HADHA):c.453+20_453+22del	HADHA	Deletion (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
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 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 2949406	NM_000182.5(HADHA):c.67+9T>C	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 2948934	NM_000182.5(HADHA):c.67+18G>T	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2948846	NM_000182.5(HADHA):c.799+1G>A	HADHA	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely pathogenic
Select item 2948662	NM_000182.5(HADHA):c.637_638del (p.Lys213fs)	HADHA (K213fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
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 2948006	NM_000182.5(HADHA):c.110-14T>C	HADHA	Single nucleotide variant (intron 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 2947938	NM_000182.5(HADHA):c.944_956del (p.Gly315fs)	HADHA (G315fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 2947918	NM_000182.5(HADHA):c.693T>C (p.Pro231=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein 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 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)	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 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 2947218	NM_000182.5(HADHA):c.453+14A>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
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 2946660	NM_000182.5(HADHA):c.243T>C (p.Ala81=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
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 2946233	NM_000182.5(HADHA):c.799+18dup	HADHA	Duplication (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2946190	NM_000182.5(HADHA):c.384G>A (p.Glu128=)	HADHA	Single nucleotide variant (synonymous 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 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)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2943329	NM_000182.5(HADHA):c.621T>C (p.Ile207=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2942982	NM_000182.5(HADHA):c.67+13C>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2942941	NM_000182.5(HADHA):c.574-13G>A	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
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 2942675	NM_000182.5(HADHA):c.677-16G>T	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2942646	NM_000182.5(HADHA):c.627A>G (p.Ala209=)	HADHA	Single nucleotide variant (synonymous variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2942564	NM_000182.5(HADHA):c.573+7C>G	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 2942354	NM_000182.5(HADHA):c.1002del (p.Glu335fs)	HADHA (E335fs)	Deletion (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 2941937	NM_000182.5(HADHA):c.314+8T>A	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign
Select item 2941790	NM_000182.5(HADHA):c.180+7C>G	HADHA	Single nucleotide variant (intron variant)	Mitochondrial trifunctional protein deficiency +1 more	GLikely benign

<< First< Prev

Page of 10