| NM_005327.7(HADH):c.706C>T (p.Arg236Ter) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003460539]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000032678]|not provided [RCV001781331] |
Chr4:108027757 [GRCh38]
Chr4:108948913 [GRCh37]
Chr4:4q25 |
pathogenic|likely pathogenic |
| NC_000004.12:g.107986495_107992009del |
deletion |
Hyperinsulinemic hypoglycemia, familial, 4 [RCV000032679] |
Chr4:107986493..107992007 [GRCh38]
Chr4:108907649..108913163 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.636+471G>T |
single nucleotide variant |
Hyperinsulinemic hypoglycemia, familial, 4 [RCV000032680] |
Chr4:108024034 [GRCh38]
Chr4:108945190 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.118G>A (p.Ala40Thr) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000008482]|Hyperinsulinemic hypoglycemia [RCV003221346] |
Chr4:107990050 [GRCh38]
Chr4:108911206 [GRCh37]
Chr4:4q25 |
pathogenic|likely risk allele |
| NM_005327.7(HADH):c.171C>A (p.Asp57Glu) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000008483]|Hyperinsulinemic hypoglycemia [RCV003221347]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001762038] |
Chr4:108009797 [GRCh38]
Chr4:108930953 [GRCh37]
Chr4:4q25 |
pathogenic|uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.773C>T (p.Pro258Leu) |
single nucleotide variant |
Hyperinsulinemic hypoglycemia, familial, 4 [RCV000008484] |
Chr4:108033239 [GRCh38]
Chr4:108954395 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.547-3_549del |
deletion |
Hyperinsulinemic hypoglycemia, familial, 4 [RCV000008485] |
Chr4:108023469..108023474 [GRCh38]
Chr4:108944625..108944630 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.4(HADH):c.132+1001C>G |
single nucleotide variant |
Lung cancer [RCV000093933] |
Chr4:107991065 [GRCh38]
Chr4:108912221 [GRCh37]
Chr4:4q25 |
uncertain significance |
| GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 |
copy number gain |
See cases [RCV000051776] |
Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3 |
pathogenic |
| GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 |
copy number gain |
See cases [RCV000051777] |
Chr4:105778347..110206873 [GRCh38]
Chr4:106699504..111128029 [GRCh37]
Chr4:106918953..111347478 [NCBI36]
Chr4:4q24-25 |
pathogenic |
| GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] |
Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3 |
pathogenic |
| NM_005327.7(HADH):c.643C>A (p.Pro215Thr) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000764523]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001082981]|HADH-related disorder [RCV003953224]|Hyperinsulinemic hypoglycemia [RCV003222089]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145823]|Monogenic diabetes [RCV000664101]|not provided [RCV000872937]|not specified [RCV001816664] |
Chr4:108027694 [GRCh38]
Chr4:108948850 [GRCh37]
Chr4:4q25 |
likely benign|conflicting interpretations of pathogenicity|uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.257T>C (p.Leu86Pro) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001513868]|not provided [RCV004715746]|not specified [RCV000153344] |
Chr4:108009883 [GRCh38]
Chr4:108931039 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.132+7G>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148479]|HADH-related disorder [RCV004757159]|Hyperinsulinemic hypoglycemia [RCV003221350]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148478]|not specified [RCV000192445] |
Chr4:107990071 [GRCh38]
Chr4:108911227 [GRCh37]
Chr4:4q25 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.579A>G (p.Thr193=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003765223]|Hyperinsulinemic hypoglycemia [RCV003221848]|not specified [RCV000192759] |
Chr4:108023506 [GRCh38]
Chr4:108944662 [GRCh37]
Chr4:4q25 |
benign|likely benign|uncertain significance |
| NM_005327.7(HADH):c.275T>G (p.Phe92Cys) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001084975]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001143927]|Monogenic diabetes [RCV000664099]|not provided [RCV000224208]|not specified [RCV000193662] |
Chr4:108014444 [GRCh38]
Chr4:108935600 [GRCh37]
Chr4:4q25 |
likely risk allele|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.486A>G (p.Arg162=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509507]|Hyperinsulinemic hypoglycemia [RCV003221837]|not provided [RCV000178240] |
Chr4:108019606 [GRCh38]
Chr4:108940762 [GRCh37]
Chr4:4q25 |
benign|likely benign|uncertain significance |
| NM_005327.7(HADH):c.676T>C (p.Tyr226His) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000194052]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001762415] |
Chr4:108027727 [GRCh38]
Chr4:108948883 [GRCh37]
Chr4:4q25 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.456G>T (p.Gln152His) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000764522]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001086439]|HADH-related disorder [RCV003907686]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001143929]|Monogenic diabetes [RCV000664100]|not provided [RCV000757347]|not specified [RCV000194877] |
Chr4:108019576 [GRCh38]
Chr4:108940732 [GRCh37]
Chr4:4q25 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.*109T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000263458]|Hyperinsulinemic hypoglycemia [RCV003221950]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000355889]|not provided [RCV001636966] |
Chr4:108034466 [GRCh38]
Chr4:108955622 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.4(HADH):c.-193G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000336235]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000281233]|not provided [RCV001653673] |
Chr4:107989740 [GRCh38]
Chr4:108910896 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.7(HADH):c.-36C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000274359]|Hyperinsulinemic hypoglycemia [RCV003221300]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000320124] |
Chr4:107989897 [GRCh38]
Chr4:108911053 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.240G>A (p.Lys80=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000339159]|HADH-related disorder [RCV003897785]|Hyperinsulinemic hypoglycemia [RCV003221353]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000284074] |
Chr4:108009866 [GRCh38]
Chr4:108931022 [GRCh37]
Chr4:4q25 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.636+13G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000344444]|Hyperinsulinemic hypoglycemia, familial, 1 [RCV002463669]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000404211]|not provided [RCV001539407]|not specified [RCV000247839] |
Chr4:108023576 [GRCh38]
Chr4:108944732 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.4(HADH):c.-65G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000308496]|Hyperinsulinemic hypoglycemia [RCV003221297]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000272026]|not provided [RCV001591005] |
Chr4:107989868 [GRCh38]
Chr4:108911024 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.7(HADH):c.*600C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000266633]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000324098] |
Chr4:108034957 [GRCh38]
Chr4:108956113 [GRCh37]
Chr4:4q25 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.4(HADH):c.-51delC |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000363186]|Hyperinsulinemic hypoglycemia [RCV003221298]|Hyperinsulinism, Dominant/Recessive [RCV000277767]|not provided [RCV004695771]|not specified [RCV002248623] |
Chr4:107989882 [GRCh38]
Chr4:108911038 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.889G>A (p.Val297Ile) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000371008]|Hyperinsulinemic hypoglycemia [RCV003221948]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000314001] |
Chr4:108034301 [GRCh38]
Chr4:108955457 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.-38T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000387551]|Hyperinsulinemic hypoglycemia [RCV003221299]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000333105]|not provided [RCV001660727] |
Chr4:107989895 [GRCh38]
Chr4:108911051 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.7(HADH):c.*305T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000354558]|Hyperinsulinemic hypoglycemia [RCV003221951]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000316039] |
Chr4:108034662 [GRCh38]
Chr4:108955818 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.4(HADH):c.-71C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000366276]|Hyperinsulinemic hypoglycemia [RCV003221296]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000302264]|not provided [RCV004716136] |
Chr4:107989862 [GRCh38]
Chr4:108911018 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.7(HADH):c.-115del |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000405942]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002488759]|Hyperinsulinemic hypoglycemia [RCV003221294]|Hyperinsulinism, Dominant/Recessive [RCV000305842] |
Chr4:107989818 [GRCh38]
Chr4:108910974 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.4(HADH):c.-102G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000341903]|Hyperinsulinemic hypoglycemia [RCV003221295]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000395285]|not provided [RCV002512078] |
Chr4:107989831 [GRCh38]
Chr4:108910987 [GRCh37]
Chr4:4q25 |
benign|likely benign|uncertain significance |
| NM_005327.7(HADH):c.72G>A (p.Lys24=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000378436]|Hyperinsulinemic hypoglycemia [RCV003221352]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000342506] |
Chr4:107990004 [GRCh38]
Chr4:108911160 [GRCh37]
Chr4:4q25 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.291G>T (p.Leu97=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000405760]|Hyperinsulinemic hypoglycemia [RCV003221947]|Hyperinsulinism, Dominant/Recessive [RCV000310617] |
Chr4:108014460 [GRCh38]
Chr4:108935616 [GRCh37]
Chr4:4q25 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.4(HADH):c.*818A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000327724]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000384606]|not provided [RCV004710961] |
Chr4:108035175 [GRCh38]
Chr4:108956331 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.7(HADH):c.*59G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000393352]|Hyperinsulinemic hypoglycemia [RCV003221949]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000312670] |
Chr4:108034416 [GRCh38]
Chr4:108955572 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.21G>A (p.Gln7=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000372649]|Hyperinsulinemic hypoglycemia [RCV003221351]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000278031] |
Chr4:107989953 [GRCh38]
Chr4:108911109 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.4(HADH):c.-195A>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000293533]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000387801] |
Chr4:107989738 [GRCh38]
Chr4:108910894 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.4(HADH):c.-195A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000375121]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV000348454] |
Chr4:107989738 [GRCh38]
Chr4:108910894 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.*661dup |
duplication |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000376602]|Hyperinsulinism, Dominant/Recessive [RCV000284469] |
Chr4:108035012..108035013 [GRCh38]
Chr4:108956168..108956169 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.349G>T (p.Val117Leu) |
single nucleotide variant |
Abnormal brain morphology [RCV000454321] |
Chr4:108014518 [GRCh38]
Chr4:108935674 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_005327.7(HADH):c.881A>G (p.Asn294Ser) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000865133]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002481352]|Hyperinsulinemic hypoglycemia [RCV003221981]|Monogenic diabetes [RCV000445389]|not provided [RCV001653781]|not specified [RCV000502882] |
Chr4:108034293 [GRCh38]
Chr4:108955449 [GRCh37]
Chr4:4q25 |
benign|likely benign|uncertain risk allele |
| NM_005327.7(HADH):c.662G>A (p.Arg221His) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000764524]|Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001084606]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145824]|Monogenic diabetes [RCV000445511]|not provided [RCV000521350]|not specified [RCV001821213] |
Chr4:108027713 [GRCh38]
Chr4:108948869 [GRCh37]
Chr4:4q25 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs) |
insertion |
Hyperinsulinemic hypoglycemia [RCV003222004]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001764478]|not provided [RCV000498051] |
Chr4:108014542..108014543 [GRCh38]
Chr4:108935698..108935699 [GRCh37]
Chr4:4q25 |
pathogenic|likely pathogenic|uncertain significance |
| NM_005327.7(HADH):c.419+39del |
deletion |
Hyperinsulinemic hypoglycemia [RCV003222009]|not specified [RCV000500776] |
Chr4:108014613 [GRCh38]
Chr4:108935769 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 |
copy number gain |
See cases [RCV000510970] |
Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2 |
pathogenic |
| NM_005327.7(HADH):c.257= (p.Leu86=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000530765] |
Chr4:108009883 [GRCh38]
Chr4:108931039 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.517A>C (p.Asn173His) |
single nucleotide variant |
Inborn genetic diseases [RCV003300570] |
Chr4:108019637 [GRCh38]
Chr4:108940793 [GRCh37]
Chr4:4q25 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4q24-25(chr4:105039193-110409978)x3 |
copy number gain |
not provided [RCV000743885] |
Chr4:105039193..110409978 [GRCh37]
Chr4:4q24-25 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NC_000004.12:g.107989685C>A |
single nucleotide variant |
not provided [RCV001724579] |
Chr4:107989685 [GRCh38]
Chr4:108910841 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.547-51C>T |
single nucleotide variant |
not provided [RCV001678946] |
Chr4:108023423 [GRCh38]
Chr4:108944579 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.710-240T>C |
single nucleotide variant |
not provided [RCV001668762] |
Chr4:108032936 [GRCh38]
Chr4:108954092 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.710-319C>G |
single nucleotide variant |
not provided [RCV001669146] |
Chr4:108032857 [GRCh38]
Chr4:108954013 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.636+385A>G |
single nucleotide variant |
not provided [RCV001693237] |
Chr4:108023948 [GRCh38]
Chr4:108945104 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.261+1G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000987461]|Hyperinsulinemic hypoglycemia [RCV003221307]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001766803] |
Chr4:108009888 [GRCh38]
Chr4:108931044 [GRCh37]
Chr4:4q25 |
pathogenic|likely pathogenic |
| NM_005327.7(HADH):c.132+6C>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148477]|Hyperinsulinemic hypoglycemia [RCV003221360]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148476] |
Chr4:107990070 [GRCh38]
Chr4:108911226 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.159A>G (p.Val53=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148482]|Hyperinsulinemic hypoglycemia [RCV003221362]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148483] |
Chr4:108009785 [GRCh38]
Chr4:108930941 [GRCh37]
Chr4:4q25 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.825T>G (p.Asp275Glu) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148594]|Hyperinsulinemic hypoglycemia [RCV003222235]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148595] |
Chr4:108033291 [GRCh38]
Chr4:108954447 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.4(HADH):c.-112C>T |
single nucleotide variant |
not provided [RCV003435128] |
Chr4:107989821 [GRCh38]
Chr4:108910977 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-14C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145827]|Hyperinsulinemic hypoglycemia [RCV003222232]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145828] |
Chr4:108033162 [GRCh38]
Chr4:108954318 [GRCh37]
Chr4:4q25 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.827-10C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001421184]|HADH-related disorder [RCV003960396]|Hyperinsulinemic hypoglycemia [RCV003222174] |
Chr4:108034229 [GRCh38]
Chr4:108955385 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.384C>T (p.Asn128=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001506288]|Hyperinsulinemic hypoglycemia [RCV003222177] |
Chr4:108014553 [GRCh38]
Chr4:108935709 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.7(HADH):c.795C>T (p.Val265=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002540969]|Hyperinsulinemic hypoglycemia [RCV003222173] |
Chr4:108033261 [GRCh38]
Chr4:108954417 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.7(HADH):c.614G>C (p.Gly205Ala) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000875947]|HADH-related disorder [RCV003920448]|Hyperinsulinemic hypoglycemia [RCV003222160]|Monogenic diabetes [RCV001174482]|not specified [RCV001817035] |
Chr4:108023541 [GRCh38]
Chr4:108944697 [GRCh37]
Chr4:4q25 |
likely benign|uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.266G>A (p.Gly89Asp) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000793783]|Hyperinsulinemic hypoglycemia [RCV003221357] |
Chr4:108014435 [GRCh38]
Chr4:108935591 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.100G>C (p.Gly34Arg) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000816566]|Hyperinsulinemic hypoglycemia [RCV003221358]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV002470991] |
Chr4:107990032 [GRCh38]
Chr4:108911188 [GRCh37]
Chr4:4q25 |
likely pathogenic|uncertain significance |
| NM_005327.7(HADH):c.908G>T (p.Gly303Val) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000801921]|Hyperinsulinemic hypoglycemia [RCV003222134]|not provided [RCV001577280]|not specified [RCV003387933] |
Chr4:108034320 [GRCh38]
Chr4:108955476 [GRCh37]
Chr4:4q25 |
pathogenic|likely risk allele|uncertain significance |
| NM_005327.7(HADH):c.349G>C (p.Val117Leu) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000808541]|Hyperinsulinemic hypoglycemia [RCV003222136]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001143928]|not provided [RCV003437431] |
Chr4:108014518 [GRCh38]
Chr4:108935674 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.494G>A (p.Arg165Gln) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001067135]|Hyperinsulinemic hypoglycemia [RCV003222215] |
Chr4:108019614 [GRCh38]
Chr4:108940770 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| Single allele |
duplication |
not provided [RCV000845097] |
Chr4:108641272..109259781 [GRCh37]
Chr4:4q25 |
not provided |
| NM_005327.7(HADH):c.809C>T (p.Thr270Met) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148590]|Hyperinsulinemic hypoglycemia [RCV003222233]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148591] |
Chr4:108033275 [GRCh38]
Chr4:108954431 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.823G>A (p.Asp275Asn) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148593]|Hyperinsulinemic hypoglycemia [RCV003222234]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148592]|Inborn genetic diseases [RCV002557184] |
Chr4:108033289 [GRCh38]
Chr4:108954445 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.*383G>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145933]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145932] |
Chr4:108034740 [GRCh38]
Chr4:108955896 [GRCh37]
Chr4:4q25 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.*168A>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001150165]|Hyperinsulinemic hypoglycemia [RCV003222237]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001150164] |
Chr4:108034525 [GRCh38]
Chr4:108955681 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.361G>A (p.Val121Met) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001873642]|Hyperinsulinemic hypoglycemia [RCV003222244]|Monogenic diabetes [RCV001174481] |
Chr4:108014530 [GRCh38]
Chr4:108935686 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.262-34G>A |
single nucleotide variant |
not provided [RCV001576048] |
Chr4:108014397 [GRCh38]
Chr4:108935553 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.661C>T (p.Arg221Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003241325] |
Chr4:108027712 [GRCh38]
Chr4:108948868 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.710-1045_710-1041del |
microsatellite |
not provided [RCV001647896] |
Chr4:108032126..108032130 [GRCh38]
Chr4:108953282..108953286 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.419+226C>G |
single nucleotide variant |
not provided [RCV001534874] |
Chr4:108014814 [GRCh38]
Chr4:108935970 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.261+161A>G |
single nucleotide variant |
not provided [RCV001580986] |
Chr4:108010048 [GRCh38]
Chr4:108931204 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-656T>A |
single nucleotide variant |
not provided [RCV001710178] |
Chr4:108032520 [GRCh38]
Chr4:108953676 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.636+351C>A |
single nucleotide variant |
not provided [RCV001674533] |
Chr4:108023914 [GRCh38]
Chr4:108945070 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.636+315A>G |
single nucleotide variant |
not provided [RCV001557626] |
Chr4:108023878 [GRCh38]
Chr4:108945034 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.324C>T (p.Ser108=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002066024]|HADH-related disorder [RCV003895631]|Hyperinsulinemic hypoglycemia [RCV003222175] |
Chr4:108014493 [GRCh38]
Chr4:108935649 [GRCh37]
Chr4:4q25 |
benign|likely benign |
| NM_005327.7(HADH):c.99C>G (p.Ile33Met) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000875072]|HADH-related disorder [RCV003967916]|Hyperinsulinemic hypoglycemia [RCV003221359] |
Chr4:107990031 [GRCh38]
Chr4:108911187 [GRCh37]
Chr4:4q25 |
likely risk allele|likely benign |
| NM_005327.7(HADH):c.479C>T (p.Thr160Ile) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001071323]|Hyperinsulinemic hypoglycemia [RCV003222218] |
Chr4:108019599 [GRCh38]
Chr4:108940755 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.-34C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145717]|Hyperinsulinemic hypoglycemia [RCV004527414]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145718] |
Chr4:107989899 [GRCh38]
Chr4:108911055 [GRCh37]
Chr4:4q25 |
benign|uncertain significance |
| NM_005327.7(HADH):c.688G>A (p.Ala230Thr) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145825]|Hyperinsulinemic hypoglycemia [RCV003222231]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145826] |
Chr4:108027739 [GRCh38]
Chr4:108948895 [GRCh37]
Chr4:4q25 |
likely pathogenic|uncertain significance |
| NM_005327.7(HADH):c.47C>T (p.Ser16Phe) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001873641]|Hyperinsulinemic hypoglycemia [RCV003221364]|Monogenic diabetes [RCV001174480] |
Chr4:107989979 [GRCh38]
Chr4:108911135 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.617del (p.Lys206fs) |
deletion |
Hyperinsulinemic hypoglycemia [RCV003222221]|not provided [RCV001090884] |
Chr4:108023542 [GRCh38]
Chr4:108944698 [GRCh37]
Chr4:4q25 |
pathogenic|uncertain significance |
| NM_005327.7(HADH):c.*335C>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001144026]|Hyperinsulinemic hypoglycemia [RCV003222229]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001144025] |
Chr4:108034692 [GRCh38]
Chr4:108955848 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.*377G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001144027]|Hyperinsulinemic hypoglycemia [RCV003222230]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001144028] |
Chr4:108034734 [GRCh38]
Chr4:108955890 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.696G>A (p.Arg232=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002544502]|Hyperinsulinemic hypoglycemia [RCV003222176] |
Chr4:108027747 [GRCh38]
Chr4:108948903 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.587del (p.Ser196fs) |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV000987462]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001766804] |
Chr4:108023514 [GRCh38]
Chr4:108944670 [GRCh37]
Chr4:4q25 |
pathogenic|likely pathogenic|likely risk allele|uncertain risk allele |
| NM_005327.7(HADH):c.261+135C>T |
single nucleotide variant |
not provided [RCV001592067] |
Chr4:108010022 [GRCh38]
Chr4:108931178 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.419+21C>A |
single nucleotide variant |
not provided [RCV001657208] |
Chr4:108014609 [GRCh38]
Chr4:108935765 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.132+89A>G |
single nucleotide variant |
not provided [RCV001581374] |
Chr4:107990153 [GRCh38]
Chr4:108911309 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.133-304A>G |
single nucleotide variant |
not provided [RCV001698519] |
Chr4:108009455 [GRCh38]
Chr4:108930611 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.636+127A>G |
single nucleotide variant |
not provided [RCV001677364] |
Chr4:108023690 [GRCh38]
Chr4:108944846 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.4(HADH):c.-56C>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145595]|Hyperinsulinemic hypoglycemia [RCV003221310]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145596] |
Chr4:107989877 [GRCh38]
Chr4:108911033 [GRCh37]
Chr4:4q25 |
benign|uncertain significance |
| NM_005327.7(HADH):c.636+102C>T |
single nucleotide variant |
not provided [RCV001684038] |
Chr4:108023665 [GRCh38]
Chr4:108944821 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.827-245C>T |
single nucleotide variant |
not provided [RCV001651544] |
Chr4:108033994 [GRCh38]
Chr4:108955150 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.261+107dup |
duplication |
not provided [RCV001533807] |
Chr4:108009977..108009978 [GRCh38]
Chr4:108931133..108931134 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.419+127G>A |
single nucleotide variant |
not provided [RCV001713598] |
Chr4:108014715 [GRCh38]
Chr4:108935871 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.4(HADH):c.-203A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148371]|Hyperinsulinemic hypoglycemia [RCV003221311]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148372] |
Chr4:107989730 [GRCh38]
Chr4:108910886 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.133-15C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001148480]|Hyperinsulinemic hypoglycemia [RCV003221361]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001148481]|not provided [RCV001664707] |
Chr4:108009744 [GRCh38]
Chr4:108930900 [GRCh37]
Chr4:4q25 |
benign|likely benign|uncertain significance |
| NM_005327.4(HADH):c.-86G>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001149933]|Hyperinsulinemic hypoglycemia [RCV003221312]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001149932] |
Chr4:107989847 [GRCh38]
Chr4:108911003 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.*142G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001150163]|Hyperinsulinemic hypoglycemia [RCV003222236]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001150162] |
Chr4:108034499 [GRCh38]
Chr4:108955655 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.*514A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001145935]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001145934] |
Chr4:108034871 [GRCh38]
Chr4:108956027 [GRCh37]
Chr4:4q25 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.380A>G (p.Lys127Arg) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001236441]|Hyperinsulinemic hypoglycemia [RCV003222269] |
Chr4:108014549 [GRCh38]
Chr4:108935705 [GRCh37]
Chr4:4q25 |
likely pathogenic|uncertain significance |
| NM_005327.7(HADH):c.264C>T (p.Ala88=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001150055]|Hyperinsulinemic hypoglycemia [RCV003221363]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001150056] |
Chr4:108014433 [GRCh38]
Chr4:108935589 [GRCh37]
Chr4:4q25 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005327.7(HADH):c.710-845C>G |
single nucleotide variant |
Hyperinsulinemic hypoglycemia [RCV003222245]|Monogenic diabetes [RCV001174483] |
Chr4:108032331 [GRCh38]
Chr4:108953487 [GRCh37]
Chr4:4q25 |
benign|uncertain significance |
| NM_005327.7(HADH):c.*279C>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001144023]|Hyperinsulinemic hypoglycemia [RCV003222228]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001144024] |
Chr4:108034636 [GRCh38]
Chr4:108955792 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NM_005327.7(HADH):c.820G>A (p.Val274Met) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001325202]|Hyperinsulinemic hypoglycemia [RCV003222305] |
Chr4:108033286 [GRCh38]
Chr4:108954442 [GRCh37]
Chr4:4q25 |
likely benign|uncertain significance |
| NC_000004.11:g.(?_108911069)_(108955533_?)dup |
duplication |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001319821] |
Chr4:108911069..108955533 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.710-822C>A |
single nucleotide variant |
Hyperinsulinemic hypoglycemia, familial, 4 [RCV001761396] |
Chr4:108032354 [GRCh38]
Chr4:108953510 [GRCh37]
Chr4:4q25 |
pathogenic|uncertain significance |
| NM_005327.7(HADH):c.280G>C (p.Glu94Gln) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001302501]|Hyperinsulinemic hypoglycemia [RCV003222296] |
Chr4:108014449 [GRCh38]
Chr4:108935605 [GRCh37]
Chr4:4q25 |
likely pathogenic|uncertain significance |
| NM_005327.7(HADH):c.827-4A>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001412479] |
Chr4:108034235 [GRCh38]
Chr4:108955391 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.112A>G (p.Met38Val) |
single nucleotide variant |
not provided [RCV001356713] |
Chr4:107990044 [GRCh38]
Chr4:108911200 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.863A>C (p.Gln288Pro) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001370063] |
Chr4:108034275 [GRCh38]
Chr4:108955431 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.725A>G (p.Glu242Gly) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001300175]|Hyperinsulinemic hypoglycemia [RCV003222294] |
Chr4:108033191 [GRCh38]
Chr4:108954347 [GRCh37]
Chr4:4q25 |
likely risk allele|uncertain significance |
| NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001306539]|Hyperinsulinemic hypoglycemia [RCV003222299] |
Chr4:108033227 [GRCh38]
Chr4:108954383 [GRCh37]
Chr4:4q25 |
likely risk allele|uncertain significance |
| NM_005327.7(HADH):c.740C>T (p.Ala247Val) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001304594]|Hyperinsulinemic hypoglycemia [RCV003222297] |
Chr4:108033206 [GRCh38]
Chr4:108954362 [GRCh37]
Chr4:4q25 |
uncertain risk allele|uncertain significance |
| NM_005327.7(HADH):c.255C>T (p.Asn85=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001458375] |
Chr4:108009881 [GRCh38]
Chr4:108931037 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.99C>T (p.Ile33=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001466383] |
Chr4:107990031 [GRCh38]
Chr4:108911187 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.237G>A (p.Lys79=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001463559]|HADH-related disorder [RCV003920984]|not provided [RCV004711660] |
Chr4:108009863 [GRCh38]
Chr4:108931019 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.419+26T>C |
single nucleotide variant |
not provided [RCV001716721] |
Chr4:108014614 [GRCh38]
Chr4:108935770 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.827-275G>T |
single nucleotide variant |
not provided [RCV001698564] |
Chr4:108033964 [GRCh38]
Chr4:108955120 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.419+57T>A |
single nucleotide variant |
not provided [RCV001592563] |
Chr4:108014645 [GRCh38]
Chr4:108935801 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-262G>A |
single nucleotide variant |
not provided [RCV001672217] |
Chr4:108032914 [GRCh38]
Chr4:108954070 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.261+16C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001513223] |
Chr4:108009903 [GRCh38]
Chr4:108931059 [GRCh37]
Chr4:4q25 |
benign |
| NM_005327.7(HADH):c.144A>C (p.Ala48=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001402351]|HADH-related disorder [RCV003953729]|not provided [RCV001552038] |
Chr4:108009770 [GRCh38]
Chr4:108930926 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.133-1G>A |
single nucleotide variant |
not provided [RCV001783412] |
Chr4:108009758 [GRCh38]
Chr4:108930914 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.406A>G (p.Lys136Glu) |
single nucleotide variant |
Hyperinsulinemic hypoglycemia, familial, 4 [RCV001761395] |
Chr4:108014575 [GRCh38]
Chr4:108935731 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.907G>A (p.Gly303Ser) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002540457]|Hyperinsulinemic hypoglycemia, familial, 4 [RCV001761397] |
Chr4:108034319 [GRCh38]
Chr4:108955475 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.707G>A (p.Arg236Gln) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001968716] |
Chr4:108027758 [GRCh38]
Chr4:108948914 [GRCh37]
Chr4:4q25 |
uncertain significance |
| GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 |
copy number gain |
not provided [RCV001827745] |
Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25 |
likely pathogenic |
| NM_005327.7(HADH):c.643C>T (p.Pro215Ser) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001927759]|not provided [RCV002275278] |
Chr4:108027694 [GRCh38]
Chr4:108948850 [GRCh37]
Chr4:4q25 |
uncertain significance |
| GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 |
copy number gain |
not provided [RCV001827738] |
Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21 |
pathogenic |
| NM_005327.7(HADH):c.283A>G (p.Lys95Glu) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001890103] |
Chr4:108014452 [GRCh38]
Chr4:108935608 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.806C>G (p.Thr269Ser) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001908780]|Inborn genetic diseases [RCV002555309] |
Chr4:108033272 [GRCh38]
Chr4:108954428 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.715G>T (p.Ala239Ser) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001946292]|not provided [RCV003313252] |
Chr4:108033181 [GRCh38]
Chr4:108954337 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.449C>T (p.Ser150Phe) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002006585] |
Chr4:108019569 [GRCh38]
Chr4:108940725 [GRCh37]
Chr4:4q25 |
uncertain significance |
| GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) |
copy number gain |
not specified [RCV002053446] |
Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21 |
pathogenic |
| NM_005327.7(HADH):c.325G>A (p.Val109Ile) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002041012] |
Chr4:108014494 [GRCh38]
Chr4:108935650 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.805A>G (p.Thr269Ala) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001881631] |
Chr4:108033271 [GRCh38]
Chr4:108954427 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.126T>G (p.Ile42Met) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001972000]|Inborn genetic diseases [RCV003264292] |
Chr4:107990058 [GRCh38]
Chr4:108911214 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.100G>A (p.Gly34Ser) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001919756] |
Chr4:107990032 [GRCh38]
Chr4:108911188 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.757G>A (p.Gly253Ser) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001951724] |
Chr4:108033223 [GRCh38]
Chr4:108954379 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.8T>C (p.Phe3Ser) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001924631] |
Chr4:107989940 [GRCh38]
Chr4:108911096 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.817A>G (p.Ile273Val) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001939288] |
Chr4:108033283 [GRCh38]
Chr4:108954439 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.34G>A (p.Val12Met) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001979071] |
Chr4:107989966 [GRCh38]
Chr4:108911122 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.235AAG[2] (p.Lys81del) |
microsatellite |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002018667] |
Chr4:108009861..108009863 [GRCh38]
Chr4:108931017..108931019 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.220C>T (p.Leu74Phe) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001905786] |
Chr4:108009846 [GRCh38]
Chr4:108931002 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.106G>C (p.Gly36Arg) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV001881456] |
Chr4:107990038 [GRCh38]
Chr4:108911194 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.827-9G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002110848] |
Chr4:108034230 [GRCh38]
Chr4:108955386 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.144A>T (p.Ala48=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002185350] |
Chr4:108009770 [GRCh38]
Chr4:108930926 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.714C>T (p.Asp238=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002150939] |
Chr4:108033180 [GRCh38]
Chr4:108954336 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.709+8T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002193039] |
Chr4:108027768 [GRCh38]
Chr4:108948924 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.636+2_636+3insCT |
insertion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002249070] |
Chr4:108023564..108023565 [GRCh38]
Chr4:108944720..108944721 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.4(HADH):c.-106G>A |
single nucleotide variant |
not provided [RCV003439457] |
Chr4:107989827 [GRCh38]
Chr4:108910983 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.709+18G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002157820] |
Chr4:108027778 [GRCh38]
Chr4:108948934 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.262-19C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002175532] |
Chr4:108014412 [GRCh38]
Chr4:108935568 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+17G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002159963] |
Chr4:108009904 [GRCh38]
Chr4:108931060 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.546+18dup |
duplication |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002161048] |
Chr4:108019682..108019683 [GRCh38]
Chr4:108940838..108940839 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.360C>T (p.Ile120=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003110858] |
Chr4:108014529 [GRCh38]
Chr4:108935685 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.705A>C (p.Glu235Asp) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003113064] |
Chr4:108027756 [GRCh38]
Chr4:108948912 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NC_000004.11:g.(?_108816710)_(108955513_?)dup |
duplication |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003116349] |
Chr4:108816710..108955513 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.*660_*661del |
deletion |
Hyperinsulinemic hypoglycemia, familial, 4 [RCV003232910] |
Chr4:108035013..108035014 [GRCh38]
Chr4:108956169..108956170 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.340G>T (p.Asp114Tyr) |
single nucleotide variant |
not provided [RCV002505974] |
Chr4:108014509 [GRCh38]
Chr4:108935665 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.434C>A (p.Ala145Asp) |
single nucleotide variant |
Hyperinsulinemic hypoglycemia, familial, 4 [RCV002471463] |
Chr4:108019554 [GRCh38]
Chr4:108940710 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.497T>A (p.Phe166Tyr) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003074318] |
Chr4:108019617 [GRCh38]
Chr4:108940773 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.311C>T (p.Thr104Met) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002756079] |
Chr4:108014480 [GRCh38]
Chr4:108935636 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.846A>G (p.Ala282=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002780105] |
Chr4:108034258 [GRCh38]
Chr4:108955414 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.18G>A (p.Arg6=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002996427] |
Chr4:107989950 [GRCh38]
Chr4:108911106 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.390C>T (p.Leu130=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002750784] |
Chr4:108014559 [GRCh38]
Chr4:108935715 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.420A>T (p.Glu140Asp) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003033270] |
Chr4:108019540 [GRCh38]
Chr4:108940696 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.710-15C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002760837] |
Chr4:108033161 [GRCh38]
Chr4:108954317 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.246T>C (p.Phe82=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003100308] |
Chr4:108009872 [GRCh38]
Chr4:108931028 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.427A>G (p.Ile143Val) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002569667] |
Chr4:108019547 [GRCh38]
Chr4:108940703 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.424A>G (p.Thr142Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002888800] |
Chr4:108019544 [GRCh38]
Chr4:108940700 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.875C>T (p.Ser292Phe) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002637193] |
Chr4:108034287 [GRCh38]
Chr4:108955443 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.533T>A (p.Met178Lys) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002979328] |
Chr4:108019653 [GRCh38]
Chr4:108940809 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.64_69del (p.Ala22_Lys23del) |
deletion |
Inborn genetic diseases [RCV002887163] |
Chr4:107989995..107990000 [GRCh38]
Chr4:108911151..108911156 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.636+20G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003080924] |
Chr4:108023583 [GRCh38]
Chr4:108944739 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.547-10G>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003085227] |
Chr4:108023464 [GRCh38]
Chr4:108944620 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.639C>T (p.Asp213=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002645697] |
Chr4:108027690 [GRCh38]
Chr4:108948846 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-11T>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002663674] |
Chr4:108033165 [GRCh38]
Chr4:108954321 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.832C>T (p.His278Tyr) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002594432] |
Chr4:108034244 [GRCh38]
Chr4:108955400 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.906C>G (p.Phe302Leu) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002572294] |
Chr4:108034318 [GRCh38]
Chr4:108955474 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.261+8C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002642738] |
Chr4:108009895 [GRCh38]
Chr4:108931051 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.420-4A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002985536] |
Chr4:108019536 [GRCh38]
Chr4:108940692 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.422A>G (p.His141Arg) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002572591] |
Chr4:108019542 [GRCh38]
Chr4:108940698 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.385G>C (p.Glu129Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002921023] |
Chr4:108014554 [GRCh38]
Chr4:108935710 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.32C>T (p.Ser11Phe) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002632364] |
Chr4:107989964 [GRCh38]
Chr4:108911120 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.819C>T (p.Ile273=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003091995]|HADH-related disorder [RCV003973666] |
Chr4:108033285 [GRCh38]
Chr4:108954441 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+12T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003091346] |
Chr4:108009899 [GRCh38]
Chr4:108931055 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.865C>T (p.Pro289Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002714112] |
Chr4:108034277 [GRCh38]
Chr4:108955433 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.651T>C (p.Phe217=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002628493] |
Chr4:108027702 [GRCh38]
Chr4:108948858 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.546+9G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002647351]|HADH-related disorder [RCV003906548] |
Chr4:108019675 [GRCh38]
Chr4:108940831 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.642T>C (p.Thr214=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003028823] |
Chr4:108027693 [GRCh38]
Chr4:108948849 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.443C>T (p.Thr148Ile) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003044048] |
Chr4:108019563 [GRCh38]
Chr4:108940719 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.540T>C (p.Leu180=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003088517] |
Chr4:108019660 [GRCh38]
Chr4:108940816 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.419+12C>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002899609] |
Chr4:108014600 [GRCh38]
Chr4:108935756 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.594A>G (p.Val198=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003026638] |
Chr4:108023521 [GRCh38]
Chr4:108944677 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.420-17A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002933493] |
Chr4:108019523 [GRCh38]
Chr4:108940679 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.316G>A (p.Ala106Thr) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002832790] |
Chr4:108014485 [GRCh38]
Chr4:108935641 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.253A>G (p.Asn85Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002720003] |
Chr4:108009879 [GRCh38]
Chr4:108931035 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.134T>C (p.Val45Ala) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003009880] |
Chr4:108009760 [GRCh38]
Chr4:108930916 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.838A>G (p.Met280Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002959628] |
Chr4:108034250 [GRCh38]
Chr4:108955406 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.388C>T (p.Leu130Phe) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002602279] |
Chr4:108014557 [GRCh38]
Chr4:108935713 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.710-13G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002602426] |
Chr4:108033163 [GRCh38]
Chr4:108954319 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.267C>T (p.Gly89=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003092646] |
Chr4:108014436 [GRCh38]
Chr4:108935592 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.243G>T (p.Lys81Asn) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002604479] |
Chr4:108009869 [GRCh38]
Chr4:108931025 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.825T>C (p.Asp275=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002721963] |
Chr4:108033291 [GRCh38]
Chr4:108954447 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.336C>T (p.Ser112=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002603739] |
Chr4:108014505 [GRCh38]
Chr4:108935661 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.636+16G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002608784] |
Chr4:108023579 [GRCh38]
Chr4:108944735 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-18C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV002611263] |
Chr4:108033158 [GRCh38]
Chr4:108954314 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.203dup (p.Ile70fs) |
duplication |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619821]|not provided [RCV003145974] |
Chr4:108009824..108009825 [GRCh38]
Chr4:108930980..108930981 [GRCh37]
Chr4:4q25 |
pathogenic|likely pathogenic |
| NM_005327.7(HADH):c.166_169del (p.Val56fs) |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003159274] |
Chr4:108009791..108009794 [GRCh38]
Chr4:108930947..108930950 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.710-822C>T |
single nucleotide variant |
Hyperinsulinemic hypoglycemia [RCV003221471] |
Chr4:108032354 [GRCh38]
Chr4:108953510 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.4(HADH):c.-193G>T |
single nucleotide variant |
Hyperinsulinemic hypoglycemia [RCV003221342] |
Chr4:107989740 [GRCh38]
Chr4:108910896 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.4(HADH):c.-195A>T |
single nucleotide variant |
Hyperinsulinemic hypoglycemia [RCV003221343] |
Chr4:107989738 [GRCh38]
Chr4:108910894 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.28C>T (p.Arg10Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003202386] |
Chr4:107989960 [GRCh38]
Chr4:108911116 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.308G>C (p.Ser103Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003345935] |
Chr4:108014477 [GRCh38]
Chr4:108935633 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.262-2A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003468307] |
Chr4:108014429 [GRCh38]
Chr4:108935585 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.424dup (p.Thr142fs) |
duplication |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003468308] |
Chr4:108019543..108019544 [GRCh38]
Chr4:108940699..108940700 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.827-20C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003875572] |
Chr4:108034219 [GRCh38]
Chr4:108955375 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.351G>A (p.Val117=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003873901] |
Chr4:108014520 [GRCh38]
Chr4:108935676 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.523G>A (p.Val175Met) |
single nucleotide variant |
not specified [RCV003479980] |
Chr4:108019643 [GRCh38]
Chr4:108940799 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.133-4945T>C |
single nucleotide variant |
not provided [RCV003435129] |
Chr4:108004814 [GRCh38]
Chr4:108925970 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.130C>T (p.Gln44Ter) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003461715] |
Chr4:107990062 [GRCh38]
Chr4:108911218 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.516del (p.Phe172fs) |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511223] |
Chr4:108019636 [GRCh38]
Chr4:108940792 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.414T>A (p.Ala138=) |
single nucleotide variant |
not provided [RCV003439458] |
Chr4:108014583 [GRCh38]
Chr4:108935739 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.709+2T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003476416] |
Chr4:108027762 [GRCh38]
Chr4:108948918 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.419+1G>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003461716] |
Chr4:108014589 [GRCh38]
Chr4:108935745 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.419+1G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003468309] |
Chr4:108014589 [GRCh38]
Chr4:108935745 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.304_307dup (p.Ser103fs) |
duplication |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510094] |
Chr4:108014472..108014473 [GRCh38]
Chr4:108935628..108935629 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.636+18T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510220] |
Chr4:108023581 [GRCh38]
Chr4:108944737 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.419+16A>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510388] |
Chr4:108014604 [GRCh38]
Chr4:108935760 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.50C>T (p.Thr17Ile) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509139] |
Chr4:107989982 [GRCh38]
Chr4:108911138 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.261+16C>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003828481] |
Chr4:108009903 [GRCh38]
Chr4:108931059 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.756C>T (p.Ala252=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511048] |
Chr4:108033222 [GRCh38]
Chr4:108954378 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.39C>T (p.Ser13=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003876049] |
Chr4:107989971 [GRCh38]
Chr4:108911127 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.133-19T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510635] |
Chr4:108009740 [GRCh38]
Chr4:108930896 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.419+19A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511315] |
Chr4:108014607 [GRCh38]
Chr4:108935763 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.126T>C (p.Ile42=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510382] |
Chr4:107990058 [GRCh38]
Chr4:108911214 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.120C>T (p.Ala40=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511013]|not provided [RCV004546797] |
Chr4:107990052 [GRCh38]
Chr4:108911208 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.133-20T>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510452] |
Chr4:108009739 [GRCh38]
Chr4:108930895 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.123C>T (p.Gly41=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510538] |
Chr4:107990055 [GRCh38]
Chr4:108911211 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.546+15G>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510328] |
Chr4:108019681 [GRCh38]
Chr4:108940837 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.419+18A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510389] |
Chr4:108014606 [GRCh38]
Chr4:108935762 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.827-20C>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511030] |
Chr4:108034219 [GRCh38]
Chr4:108955375 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.810G>A (p.Thr270=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511118] |
Chr4:108033276 [GRCh38]
Chr4:108954432 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.163T>C (p.Leu55=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509175] |
Chr4:108009789 [GRCh38]
Chr4:108930945 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.756C>G (p.Ala252=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510160] |
Chr4:108033222 [GRCh38]
Chr4:108954378 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.897G>A (p.Glu299=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509341] |
Chr4:108034309 [GRCh38]
Chr4:108955465 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.636+2T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510680] |
Chr4:108023565 [GRCh38]
Chr4:108944721 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.162G>A (p.Val54=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003831324] |
Chr4:108009788 [GRCh38]
Chr4:108930944 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.498C>T (p.Phe166=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003877899] |
Chr4:108019618 [GRCh38]
Chr4:108940774 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.315T>C (p.Asp105=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510212] |
Chr4:108014484 [GRCh38]
Chr4:108935640 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+16C>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509418] |
Chr4:108009903 [GRCh38]
Chr4:108931059 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.637-20T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510523] |
Chr4:108027668 [GRCh38]
Chr4:108948824 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.262-5A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509187] |
Chr4:108014426 [GRCh38]
Chr4:108935582 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+20G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510327] |
Chr4:108009907 [GRCh38]
Chr4:108931063 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.132+16T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510343] |
Chr4:107990080 [GRCh38]
Chr4:108911236 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.826+8T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510992] |
Chr4:108033300 [GRCh38]
Chr4:108954456 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.906C>T (p.Phe302=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003511014] |
Chr4:108034318 [GRCh38]
Chr4:108955474 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.132+15C>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003510653] |
Chr4:107990079 [GRCh38]
Chr4:108911235 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.636+16G>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003509999] |
Chr4:108023579 [GRCh38]
Chr4:108944735 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.156A>G (p.Thr52=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003851250] |
Chr4:108009782 [GRCh38]
Chr4:108930938 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+10T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003833812] |
Chr4:108009897 [GRCh38]
Chr4:108931053 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+19T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619921] |
Chr4:108009906 [GRCh38]
Chr4:108931062 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.262-5A>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003856012] |
Chr4:108014426 [GRCh38]
Chr4:108935582 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.450C>T (p.Ser150=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620960] |
Chr4:108019570 [GRCh38]
Chr4:108940726 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.262-8T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620328] |
Chr4:108014423 [GRCh38]
Chr4:108935579 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.420-10C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620848] |
Chr4:108019530 [GRCh38]
Chr4:108940686 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.664_668del (p.Leu222fs) |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620687] |
Chr4:108027715..108027719 [GRCh38]
Chr4:108948871..108948875 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer) |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620919] |
Chr4:108014538 [GRCh38]
Chr4:108935694 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.637-18T>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619262] |
Chr4:108027670 [GRCh38]
Chr4:108948826 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+8C>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620092] |
Chr4:108009895 [GRCh38]
Chr4:108931051 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.493C>T (p.Arg165Ter) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620513] |
Chr4:108019613 [GRCh38]
Chr4:108940769 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.141A>G (p.Ala47=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620108] |
Chr4:108009767 [GRCh38]
Chr4:108930923 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.366G>A (p.Glu122=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620518] |
Chr4:108014535 [GRCh38]
Chr4:108935691 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+2T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619324] |
Chr4:108009889 [GRCh38]
Chr4:108931045 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.709+17G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619352] |
Chr4:108027777 [GRCh38]
Chr4:108948933 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.117C>G (p.Gly39=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620631] |
Chr4:107990049 [GRCh38]
Chr4:108911205 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.180G>A (p.Glu60=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620546] |
Chr4:108009806 [GRCh38]
Chr4:108930962 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.87C>T (p.His29=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620551] |
Chr4:107990019 [GRCh38]
Chr4:108911175 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.546+13C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620644] |
Chr4:108019679 [GRCh38]
Chr4:108940835 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.828G>A (p.Gly276=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620424] |
Chr4:108034240 [GRCh38]
Chr4:108955396 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.312G>A (p.Thr104=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620433] |
Chr4:108014481 [GRCh38]
Chr4:108935637 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.826+13del |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619374] |
Chr4:108033304 [GRCh38]
Chr4:108954460 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.525G>A (p.Val175=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619440] |
Chr4:108019645 [GRCh38]
Chr4:108940801 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.426A>G (p.Thr142=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619329] |
Chr4:108019546 [GRCh38]
Chr4:108940702 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.600T>C (p.Phe200=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619457] |
Chr4:108023527 [GRCh38]
Chr4:108944683 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.132+19A>G |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619567] |
Chr4:107990083 [GRCh38]
Chr4:108911239 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.615A>G (p.Gly205=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619449] |
Chr4:108023542 [GRCh38]
Chr4:108944698 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.419+14G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619501] |
Chr4:108014602 [GRCh38]
Chr4:108935758 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+18A>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619547] |
Chr4:108009905 [GRCh38]
Chr4:108931061 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.262-6C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620244] |
Chr4:108014425 [GRCh38]
Chr4:108935581 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.636+7G>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620303] |
Chr4:108023570 [GRCh38]
Chr4:108944726 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.637-10C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619872] |
Chr4:108027678 [GRCh38]
Chr4:108948834 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+7T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619933] |
Chr4:108009894 [GRCh38]
Chr4:108931050 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.765C>G (p.Pro255=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619983] |
Chr4:108033231 [GRCh38]
Chr4:108954387 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-11T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619892] |
Chr4:108033165 [GRCh38]
Chr4:108954321 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.261+15T>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619188] |
Chr4:108009902 [GRCh38]
Chr4:108931058 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.873A>G (p.Pro291=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003620587] |
Chr4:108034285 [GRCh38]
Chr4:108955441 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.774A>G (p.Pro258=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003855087]|not provided [RCV004585070] |
Chr4:108033240 [GRCh38]
Chr4:108954396 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.93G>A (p.Thr31=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619244] |
Chr4:107990025 [GRCh38]
Chr4:108911181 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.637-7A>C |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003619250] |
Chr4:108027681 [GRCh38]
Chr4:108948837 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.827-18C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003814774] |
Chr4:108034221 [GRCh38]
Chr4:108955377 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.489A>G (p.Gln163=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621154] |
Chr4:108019609 [GRCh38]
Chr4:108940765 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.921A>T (p.Gly307=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003860793] |
Chr4:108034333 [GRCh38]
Chr4:108955489 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.909C>T (p.Gly303=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621019] |
Chr4:108034321 [GRCh38]
Chr4:108955477 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.306C>G (p.Thr102=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003860398] |
Chr4:108014475 [GRCh38]
Chr4:108935631 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.612A>G (p.Leu204=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621150] |
Chr4:108023539 [GRCh38]
Chr4:108944695 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-14_710-11dup |
duplication |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621157] |
Chr4:108033161..108033162 [GRCh38]
Chr4:108954317..108954318 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.249A>G (p.Ala83=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003862070] |
Chr4:108009875 [GRCh38]
Chr4:108931031 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.547-19C>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621196] |
Chr4:108023455 [GRCh38]
Chr4:108944611 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.64del (p.Ala22fs) |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621081] |
Chr4:107989995 [GRCh38]
Chr4:108911151 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.54C>A (p.Ala18=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621163] |
Chr4:107989986 [GRCh38]
Chr4:108911142 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-19G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003871602] |
Chr4:108033157 [GRCh38]
Chr4:108954313 [GRCh37]
Chr4:4q25 |
likely benign |
| GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 |
copy number gain |
not specified [RCV003986496] |
Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2 |
pathogenic |
| NM_005327.7(HADH):c.420-19C>T |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621340] |
Chr4:108019521 [GRCh38]
Chr4:108940677 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.771C>T (p.Gly257=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621074] |
Chr4:108033237 [GRCh38]
Chr4:108954393 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.381A>G (p.Lys127=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621233] |
Chr4:108014550 [GRCh38]
Chr4:108935706 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.567C>T (p.Thr189=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003864479] |
Chr4:108023494 [GRCh38]
Chr4:108944650 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.48C>T (p.Ser16=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621478] |
Chr4:107989980 [GRCh38]
Chr4:108911136 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.663C>T (p.Arg221=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003621488] |
Chr4:108027714 [GRCh38]
Chr4:108948870 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.327T>C (p.Val109=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003866514] |
Chr4:108014496 [GRCh38]
Chr4:108935652 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-857C>T |
single nucleotide variant |
HADH-related disorder [RCV003919613] |
Chr4:108032319 [GRCh38]
Chr4:108953475 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.537A>G (p.Lys179=) |
single nucleotide variant |
HADH-related disorder [RCV003899071] |
Chr4:108019657 [GRCh38]
Chr4:108940813 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.15C>T (p.Thr5=) |
single nucleotide variant |
HADH-related disorder [RCV003896597] |
Chr4:107989947 [GRCh38]
Chr4:108911103 [GRCh37]
Chr4:4q25 |
likely benign |
| GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2 |
pathogenic |
| NM_005327.7(HADH):c.709+37A>T |
single nucleotide variant |
HADH-related disorder [RCV003903921] |
Chr4:108027797 [GRCh38]
Chr4:108948953 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.709+32A>G |
single nucleotide variant |
HADH-related disorder [RCV003904223] |
Chr4:108027792 [GRCh38]
Chr4:108948948 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.709+33C>T |
single nucleotide variant |
HADH-related disorder [RCV003904156] |
Chr4:108027793 [GRCh38]
Chr4:108948949 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.-5AC[1] |
microsatellite |
HADH-related disorder [RCV003904632] |
Chr4:107989927..107989928 [GRCh38]
Chr4:108911083..108911084 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.105C>T (p.Gly35=) |
single nucleotide variant |
HADH-related disorder [RCV003894363] |
Chr4:107990037 [GRCh38]
Chr4:108911193 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.709+35_709+36insG |
insertion |
HADH-related disorder [RCV003904299] |
Chr4:108027795..108027796 [GRCh38]
Chr4:108948951..108948952 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.710-1G>A |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV004576704] |
Chr4:108033175 [GRCh38]
Chr4:108954331 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.271G>T (p.Glu91Ter) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV004576705] |
Chr4:108014440 [GRCh38]
Chr4:108935596 [GRCh37]
Chr4:4q25 |
likely pathogenic |
| NM_005327.7(HADH):c.421C>T (p.His141Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004399006] |
Chr4:108019541 [GRCh38]
Chr4:108940697 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.491A>T (p.Asp164Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004399007] |
Chr4:108019611 [GRCh38]
Chr4:108940767 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.596A>G (p.Asp199Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004399008] |
Chr4:108023523 [GRCh38]
Chr4:108944679 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NC_000004.11:g.(?_108911089)_(108911240_?)del |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV004580761] |
Chr4:108911089..108911240 [GRCh37]
Chr4:4q25 |
pathogenic |
| NC_000004.11:g.(?_108911089)_(108955513_?)del |
deletion |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV004580760] |
Chr4:108911089..108955513 [GRCh37]
Chr4:4q25 |
pathogenic |
| NM_005327.7(HADH):c.132G>A (p.Gln44=) |
single nucleotide variant |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV004723640] |
Chr4:107990064 [GRCh38]
Chr4:108911220 [GRCh37]
Chr4:4q25 |
uncertain significance |
| NM_005327.7(HADH):c.710-791G>C |
single nucleotide variant |
HADH-related disorder [RCV004757666] |
Chr4:108032385 [GRCh38]
Chr4:108953541 [GRCh37]
Chr4:4q25 |
likely benign |
| NM_005327.7(HADH):c.268G>A (p.Asp90Asn) |
single nucleotide variant |
not provided [RCV004760191] |
|
uncertain significance |
