HADH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 39483	NC_000004.12:g.107986495_107992009del	HADH, LOC129992931	Deletion (genic upstream transcript variant)	Hyperinsulinemic hypoglycemia, familial, 4	GPathogenic
Select item 1296710	NC_000004.12:g.107989685C>A	HADH, LOC129992931	Single nucleotide variant	not provided	GBenign
Select item 902091	NM_005327.4(HADH):c.-203A>G	HADH, LOC129992931	Single nucleotide variant	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 2498224	NM_005327.4(HADH):c.-195A>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia	GLikely benign
Select item 347122	NM_005327.4(HADH):c.-195A>G	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +1 more	GUncertain significance
Select item 347121	NM_005327.4(HADH):c.-195A>C	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +1 more	GUncertain significance
Select item 2498223	NM_005327.4(HADH):c.-193G>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia	GLikely benign
Select item 347123	NM_005327.4(HADH):c.-193G>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GBenign/Likely benign
Select item 347124	NM_005327.4(HADH):c.-115delG	HADH, LOC129992931	Deletion	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +3 more	GUncertain significance/Uncertain risk allele
Select item 2655015	NM_005327.4(HADH):c.-112C>T	HADH, LOC129992931	Single nucleotide variant	not provided	GLikely benign
Select item 2655016	NM_005327.4(HADH):c.-106G>A	HADH, LOC129992931	Single nucleotide variant	not provided	GLikely benign
Select item 347125	NM_005327.4(HADH):c.-102G>A	HADH, LOC129992931	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 902970	NM_005327.4(HADH):c.-86G>T	HADH, LOC129992931	Single nucleotide variant	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 347126	NM_005327.4(HADH):c.-71C>T	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GBenign/Likely benign
Select item 347127	NM_005327.4(HADH):c.-65G>A	HADH, LOC129992931	Single nucleotide variant	not provided +3 more	GBenign/Likely benign
Select item 900414	NM_005327.4(HADH):c.-56C>A	HADH, LOC129992931	Single nucleotide variant	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 347128	NM_005327.4(HADH):c.-51delC	HADH, LOC129992931	Deletion	not specified +3 more	GUncertain significance/Uncertain risk allele
Select item 347129	NM_005327.7(HADH):c.-38T>C	HADH	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinemic hypoglycemia +3 more	GBenign/Likely benign
Select item 347130	NM_005327.7(HADH):c.-36C>T	HADH	Single nucleotide variant (5 prime UTR variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 900482	NM_005327.7(HADH):c.-34C>T	HADH	Single nucleotide variant (5 prime UTR variant)	Hyperinsulinemic hypoglycemia, familial, 4 +1 more	GUncertain significance
Select item 3036274	NM_005327.7(HADH):c.-5AC[1]	HADH	Microsatellite (5 prime UTR variant)	HADH-related condition	GLikely benign
Select item 1383603	NM_005327.7(HADH):c.8T>C (p.Phe3Ser)	HADH (F3S)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 3029497	NM_005327.7(HADH):c.15C>T (p.Thr5=)	HADH	Single nucleotide variant (synonymous variant)	HADH-related condition	GLikely benign
Select item 2085736	NM_005327.7(HADH):c.18G>A (p.Arg6=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 347131	NM_005327.7(HADH):c.21G>A (p.Gln7=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 2468419	NM_005327.7(HADH):c.28C>T (p.Arg10Cys)	HADH (R10C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184946	NM_005327.7(HADH):c.32C>T (p.Ser11Phe)	HADH (S11F)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 1441272	NM_005327.7(HADH):c.34G>A (p.Val12Met)	HADH (V12M)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 3014410	NM_005327.7(HADH):c.39C>T (p.Ser13=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 917461	NM_005327.7(HADH):c.47C>T (p.Ser16Phe)	HADH (S16F)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance/Uncertain risk allele
Select item 2862079	NM_005327.7(HADH):c.48C>T (p.Ser16=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2738964	NM_005327.7(HADH):c.50C>T (p.Thr17Ile)	HADH (T17I)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 2841833	NM_005327.7(HADH):c.54C>A (p.Ala18=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2836479	NM_005327.7(HADH):c.64del (p.Ala22fs)	HADH (A22fs)	Deletion (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GPathogenic
Select item 2309467	NM_005327.7(HADH):c.64_69del (p.Ala22_Lys23del)	HADH	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 347132	NM_005327.7(HADH):c.72G>A (p.Lys24=)	HADH	Single nucleotide variant (synonymous variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 2799758	NM_005327.7(HADH):c.87C>T (p.His29=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2868716	NM_005327.7(HADH):c.93G>A (p.Thr31=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 1132214	NM_005327.7(HADH):c.99C>T (p.Ile33=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 704870	NM_005327.7(HADH):c.99C>G (p.Ile33Met)	HADH (I33M)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +2 more	GConflicting classifications of pathogenicity
Select item 1395603	NM_005327.7(HADH):c.100G>A (p.Gly34Ser)	HADH (G34S)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 659541	NM_005327.7(HADH):c.100G>C (p.Gly34Arg)	HADH (G34R)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GLikely pathogenic
Select item 3032721	NM_005327.7(HADH):c.105C>T (p.Gly35=)	HADH	Single nucleotide variant (synonymous variant)	HADH-related condition	GLikely benign
Select item 1386410	NM_005327.7(HADH):c.106G>C (p.Gly36Arg)	HADH (G36R)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 1049966	NM_005327.7(HADH):c.112A>G (p.Met38Val)	HADH (M38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805111	NM_005327.7(HADH):c.117C>G (p.Gly39=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 8018	NM_005327.7(HADH):c.118G>A (p.Ala40Thr)	HADH (A40T)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia	GLikely risk allele
Select item 2719092	NM_005327.7(HADH):c.120C>T (p.Ala40=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2701547	NM_005327.7(HADH):c.123C>T (p.Gly41=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2769989	NM_005327.7(HADH):c.126T>C (p.Ile42=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 1431173	NM_005327.7(HADH):c.126T>G (p.Ile42Met)	HADH (I42M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2675958	NM_005327.7(HADH):c.130C>T (p.Gln44Ter)	HADH (Q44*)	Single nucleotide variant (nonsense)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 902147	NM_005327.7(HADH):c.132+6C>G	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 211125	NM_005327.7(HADH):c.132+7G>T	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia +3 more	GConflicting classifications of pathogenicity
Select item 2706342	NM_005327.7(HADH):c.132+15C>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2768349	NM_005327.7(HADH):c.132+16T>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2891714	NM_005327.7(HADH):c.132+19A>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 1210652	NM_005327.7(HADH):c.132+89A>G	HADH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2655017	NM_005327.7(HADH):c.133-4945T>C	HADH (L14P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1283935	NM_005327.7(HADH):c.133-304A>G	HADH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2697873	NM_005327.7(HADH):c.133-20T>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2705656	NM_005327.7(HADH):c.133-19T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 902148	NM_005327.7(HADH):c.133-15C>T	HADH	Single nucleotide variant (intron variant)	Hyperinsulinemic hypoglycemia, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 2088066	NM_005327.7(HADH):c.134T>C (p.Val45Ala)	HADH (V45A +1 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 2794776	NM_005327.7(HADH):c.141A>G (p.Ala47=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 1555852	NM_005327.7(HADH):c.144A>T (p.Ala48=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 1085093	NM_005327.7(HADH):c.144A>C (p.Ala48=)	HADH	Single nucleotide variant (synonymous variant)	HADH-related condition +2 more	GLikely benign
Select item 2997131	NM_005327.7(HADH):c.156A>G (p.Thr52=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 902149	NM_005327.7(HADH):c.159A>G (p.Val53=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase +2 more	GConflicting classifications of pathogenicity
Select item 2977206	NM_005327.7(HADH):c.162G>A (p.Val54=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2740456	NM_005327.7(HADH):c.163T>C (p.Leu55=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2446434	NM_005327.7(HADH):c.166_169del (p.Val56fs)	HADH (V56fs +1 more)	Deletion (frameshift variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 8019	NM_005327.7(HADH):c.171C>A (p.Asp57Glu)	HADH (D57E +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinemic hypoglycemia +1 more	GUncertain significance/Uncertain risk allele
Select item 2799307	NM_005327.7(HADH):c.180G>A (p.Glu60=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2440673	NM_005327.7(HADH):c.203dup (p.Ile70fs)	HADH (I70fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1386460	NM_005327.7(HADH):c.220C>T (p.Leu74Phe)	HADH (L74F +1 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 1477167	NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)	HADH (K81del +1 more)	Microsatellite (inframe_deletion)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 1130145	NM_005327.7(HADH):c.237G>A (p.Lys79=)	HADH	Single nucleotide variant (synonymous variant)	HADH-related condition +1 more	GLikely benign
Select item 347133	NM_005327.7(HADH):c.240G>A (p.Lys80=)	HADH	Single nucleotide variant (synonymous variant)	HADH-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1923245	NM_005327.7(HADH):c.243G>T (p.Lys81Asn)	HADH (K81N +1 more)	Single nucleotide variant (missense variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GUncertain significance
Select item 2168243	NM_005327.7(HADH):c.246T>C (p.Phe82=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 3008943	NM_005327.7(HADH):c.249A>G (p.Ala83=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2394631	NM_005327.7(HADH):c.253A>G (p.Asn85Asp)	HADH (N89D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1126337	NM_005327.7(HADH):c.255C>T (p.Asn85=)	HADH	Single nucleotide variant (synonymous variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 463388	NM_005327.7(HADH):c.257= (p.Leu86=)	HADH	Single nucleotide variant (no sequence alteration)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GBenign
Select item 167162	NM_005327.7(HADH):c.257T>C (p.Leu86Pro)	HADH (L86P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 802082	NM_005327.7(HADH):c.261+1G>A	HADH	Single nucleotide variant (splice donor variant)	Hyperinsulinemic hypoglycemia, familial, 4 +2 more	GPathogenic/Likely pathogenic
Select item 2874131	NM_005327.7(HADH):c.261+2T>A	HADH	Single nucleotide variant (splice donor variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely pathogenic
Select item 2781679	NM_005327.7(HADH):c.261+7T>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2793908	NM_005327.7(HADH):c.261+8C>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 1937168	NM_005327.7(HADH):c.261+8C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2975726	NM_005327.7(HADH):c.261+10T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2162569	NM_005327.7(HADH):c.261+12T>C	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2866201	NM_005327.7(HADH):c.261+15T>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2964859	NM_005327.7(HADH):c.261+16C>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 2749753	NM_005327.7(HADH):c.261+16C>G	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign
Select item 1165797	NM_005327.7(HADH):c.261+16C>T	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GBenign
Select item 1605149	NM_005327.7(HADH):c.261+17G>A	HADH	Single nucleotide variant (intron variant)	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	GLikely benign

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