| NM_000431.4(MVK):c.614A>G (p.Asn205Ser) |
single nucleotide variant |
Mevalonic aciduria [RCV002535041]|not provided [RCV000723117] |
Chr12:109586108 [GRCh38]
Chr12:110023913 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|uncertain significance |
| NM_000431.4(MVK):c.16_34del (p.Leu6fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083827]|Mevalonic aciduria [RCV000012713] |
Chr12:109574838..109574856 [GRCh38]
Chr12:110012643..110012661 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.902A>C (p.Asn301Thr) |
single nucleotide variant |
Mevalonic aciduria [RCV000012704] |
Chr12:109595044 [GRCh38]
Chr12:110032849 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.1129G>A (p.Val377Ile) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262563]|Hyperimmunoglobulin D with periodic fever [RCV000012705]|Inborn genetic diseases [RCV002512987]|MVK-related disorder [RCV000791161]|Mevalonic aciduria [RCV000191108]|Mevalonic aciduria [RCV000627780]|Mevalonic aciduria [RCV004783724]|Porokeratosis 3, disseminated superficial actinic type [RCV001270083]|Retinal dystrophy [RCV004814886]|not provided [RCV000221789]|not specified [RCV000999977] |
Chr12:109596515 [GRCh38]
Chr12:110034320 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000074422]|Mevalonic aciduria [RCV000012706]|Mevalonic aciduria [RCV000688831]|Mevalonic aciduria [RCV004795398]|Retinal dystrophy [RCV004814887]|not provided [RCV003114187] |
Chr12:109595142 [GRCh38]
Chr12:110032947 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.59A>C (p.His20Pro) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000012707]|Mevalonic aciduria [RCV000012708]|Mevalonic aciduria [RCV001240497]|not provided [RCV001093432] |
Chr12:109574881 [GRCh38]
Chr12:110012686 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.803T>C (p.Ile268Thr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262564]|Hyperimmunoglobulin D with periodic fever [RCV000012709]|Inborn genetic diseases [RCV002512988]|MVK-related disorder [RCV002255091]|Mevalonic aciduria [RCV000012710]|Mevalonic aciduria [RCV000191109]|Mevalonic aciduria [RCV000698175]|Retinal dystrophy [RCV004814888]|not provided [RCV000218157]|not specified [RCV000505909] |
Chr12:109591275 [GRCh38]
Chr12:110029080 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.494C>T (p.Pro165Leu) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000012711]|Mevalonic aciduria [RCV001219913] |
Chr12:109581517 [GRCh38]
Chr12:110019322 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic |
| NM_000431.4(MVK):c.928G>A (p.Val310Met) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262565]|Hyperimmunoglobulin D with periodic fever [RCV000083890]|Mevalonic aciduria [RCV000012712]|Mevalonic aciduria [RCV000697433]|not provided [RCV000414603] |
Chr12:109595070 [GRCh38]
Chr12:110032875 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.764T>C (p.Leu255Pro) |
single nucleotide variant |
Porokeratosis 3, disseminated superficial actinic type [RCV000032936] |
Chr12:109590857 [GRCh38]
Chr12:110028662 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.500C>T (p.Pro167Leu) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000032937]|Mevalonic aciduria [RCV003764651]|not provided [RCV000445120] |
Chr12:109581523 [GRCh38]
Chr12:110019328 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic |
| NM_000431.4(MVK):c.604G>A (p.Gly202Arg) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000032938]|Mevalonic aciduria [RCV000032939]|Mevalonic aciduria [RCV002496494]|Porokeratosis 3, disseminated superficial actinic type [RCV000032940]|not provided [RCV001090935] |
Chr12:109586098 [GRCh38]
Chr12:110023903 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic |
| NM_000431.4(MVK):c.417dup (p.Gly140fs) |
duplication |
Hyperimmunoglobulin D with periodic fever [RCV000083840]|Mevalonic aciduria [RCV000032941]|Mevalonic aciduria [RCV005003419]|Porokeratosis 3, disseminated superficial actinic type [RCV000074423]|not provided [RCV000657168] |
Chr12:109581434..109581435 [GRCh38]
Chr12:110019239..110019240 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.122T>C (p.Leu41Pro) |
single nucleotide variant |
Porokeratosis 3, disseminated superficial actinic type [RCV000032943] |
Chr12:109576041 [GRCh38]
Chr12:110013846 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.1039+2T>C |
single nucleotide variant |
Porokeratosis 3, disseminated superficial actinic type [RCV000032944] |
Chr12:109595183 [GRCh38]
Chr12:110032988 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.1094T>C (p.Phe365Ser) |
single nucleotide variant |
Porokeratosis 3, disseminated superficial actinic type [RCV000032945] |
Chr12:109596480 [GRCh38]
Chr12:110034285 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 |
copy number loss |
See cases [RCV000050807] |
Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13 |
pathogenic |
| NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV001297383]|not provided [RCV000657855] |
Chr12:109596575 [GRCh38]
Chr12:110034380 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|uncertain significance |
| NM_000431.4(MVK):c.607dup (p.Val203fs) |
duplication |
Hyperimmunoglobulin D with periodic fever [RCV000083852] |
Chr12:109586100..109586101 [GRCh38]
Chr12:110023905..110023906 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.72dup (p.Gly25fs) |
duplication |
Hyperimmunoglobulin D with periodic fever [RCV000083866]|Mevalonic aciduria [RCV000074424]|Mevalonic aciduria [RCV000823039] |
Chr12:109574893..109574894 [GRCh38]
Chr12:110012698..110012699 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.421dup (p.Ala141fs) |
duplication |
Hyperimmunoglobulin D with periodic fever [RCV000083842] |
Chr12:109581440..109581441 [GRCh38]
Chr12:110019245..110019246 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083813]|Mevalonic aciduria [RCV004689451]|Mevalonic aciduria [RCV005003459] |
Chr12:109595148 [GRCh38]
Chr12:110032953 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000431.4(MVK):c.*11C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083810] |
Chr12:109596588 [GRCh38]
Chr12:110034393 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.-13_78+1del |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083811] |
Chr12:109574807..109574898 [GRCh38]
Chr12:110012612..110012703 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.1005C>T (p.Gly335=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083812]|Mevalonic aciduria [RCV000685302]|not specified [RCV000606015] |
Chr12:109595147 [GRCh38]
Chr12:110032952 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance|not provided |
| NM_000431.4(MVK):c.1039+1G>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083814] |
Chr12:109595182 [GRCh38]
Chr12:110032987 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.104T>C (p.Leu35Ser) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083815]|not provided [RCV002260975] |
Chr12:109576023 [GRCh38]
Chr12:110013828 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|uncertain significance|not provided |
| NM_000431.4(MVK):c.1067C>T (p.Thr356Met) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083816]|Inborn genetic diseases [RCV002514463]|Mevalonic aciduria [RCV000688571]|Retinal dystrophy [RCV004815019]|not provided [RCV001588913] |
Chr12:109596453 [GRCh38]
Chr12:110034258 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000431.4(MVK):c.1097_1100del (p.Asp366fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083817] |
Chr12:109596481..109596484 [GRCh38]
Chr12:110034286..110034289 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.1100G>C (p.Cys367Ser) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083818] |
Chr12:109596486 [GRCh38]
Chr12:110034291 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.1127G>T (p.Gly376Val) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083819] |
Chr12:109596513 [GRCh38]
Chr12:110034318 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.1132T>C (p.Ser378Pro) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083820] |
Chr12:109596518 [GRCh38]
Chr12:110034323 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.1139A>G (p.His380Arg) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083821]|MVK-related disorder [RCV004528781]|Mevalonic aciduria [RCV000690628]|Mevalonic aciduria [RCV004593988]|not provided [RCV000757501] |
Chr12:109596525 [GRCh38]
Chr12:110034330 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000431.4(MVK):c.1151C>T (p.Ser384Phe) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083822] |
Chr12:109596537 [GRCh38]
Chr12:110034342 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262659]|Hyperimmunoglobulin D with periodic fever [RCV000083823]|Mevalonic aciduria [RCV000887171]|not provided [RCV001701591] |
Chr12:109596542 [GRCh38]
Chr12:110034347 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083824]|MVK-related disorder [RCV004529877]|Mevalonic aciduria [RCV001038569]|not provided [RCV000214882] |
Chr12:109596548 [GRCh38]
Chr12:110034353 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.116T>C (p.Leu39Pro) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083825] |
Chr12:109576035 [GRCh38]
Chr12:110013840 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.129_130del (p.His44fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083826]|Mevalonic aciduria [RCV001216056] |
Chr12:109576046..109576047 [GRCh38]
Chr12:110013851..110013852 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.3(MVK):c.16_34del19 (p.Leu6Glyfs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083827] |
Chr12:109574838..109574856 [GRCh38]
Chr12:110012643..110012661 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.185G>A (p.Trp62Ter) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083828]|Mevalonic aciduria [RCV003764774]|not provided [RCV001701662] |
Chr12:109576104 [GRCh38]
Chr12:110013909 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.22G>C (p.Val8Leu) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083829] |
Chr12:109574844 [GRCh38]
Chr12:110012649 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.238G>A (p.Val80Ile) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262660]|Hyperimmunoglobulin D with periodic fever [RCV000083830]|MVK-related disorder [RCV004529878]|Mevalonic aciduria [RCV001087442]|Mevalonic aciduria [RCV001114047]|not provided [RCV000726403]|not specified [RCV005237528] |
Chr12:109579813 [GRCh38]
Chr12:110017618 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000431.4(MVK):c.357C>G (p.Ile119Met) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083834] |
Chr12:109579932 [GRCh38]
Chr12:110017737 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.277_283del (p.Glu93fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083831]|MVK-related disorder [RCV000779090]|Mevalonic aciduria [RCV002514464]|not provided [RCV003137624] |
Chr12:109579851..109579857 [GRCh38]
Chr12:110017656..110017662 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000431.4(MVK):c.340_344del (p.Tyr114fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083832]|Mevalonic aciduria [RCV005008000] |
Chr12:109579912..109579916 [GRCh38]
Chr12:110017717..110017721 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.346T>C (p.Tyr116His) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083833]|MVK-related disorder [RCV005229891]|Mevalonic aciduria [RCV000645101]|See cases [RCV002251975]|not provided [RCV000220019] |
Chr12:109579921 [GRCh38]
Chr12:110017726 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.372-3C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083835]|Mevalonic aciduria [RCV003764775] |
Chr12:109581392 [GRCh38]
Chr12:110019197 [GRCh37]
Chr12:12q24.11 |
uncertain significance|not provided |
| NM_000431.4(MVK):c.372_527del (p.Ala125_Arg176del) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083836] |
|
not provided |
| NM_000431.4(MVK):c.37A>T (p.Lys13Ter) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083837]|Mevalonic aciduria [RCV005003460] |
Chr12:109574859 [GRCh38]
Chr12:110012664 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.394G>A (p.Val132Ile) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083838]|Mevalonic aciduria [RCV001046559] |
Chr12:109581417 [GRCh38]
Chr12:110019222 [GRCh37]
Chr12:12q24.11 |
uncertain significance|not provided |
| NM_000431.4(MVK):c.404C>T (p.Ser135Leu) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083839]|not provided [RCV001531167] |
Chr12:109581427 [GRCh38]
Chr12:110019232 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.421del (p.Ala141fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083841]|Mevalonic aciduria [RCV004767065]|not provided [RCV005229892] |
Chr12:109581441 [GRCh38]
Chr12:110019246 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.439G>A (p.Ala147Thr) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083843]|Mevalonic aciduria [RCV002514465] |
Chr12:109581462 [GRCh38]
Chr12:110019267 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|not provided |
| NM_000431.4(MVK):c.442G>A (p.Ala148Thr) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083844]|Mevalonic aciduria [RCV001854464]|Retinal dystrophy [RCV004815020]|not provided [RCV000214102] |
Chr12:109581465 [GRCh38]
Chr12:110019270 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.447C>G (p.Tyr149Ter) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083845]|Mevalonic aciduria [RCV005222743] |
Chr12:109581470 [GRCh38]
Chr12:110019275 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.503_512delinsAC (p.Leu168fs) |
indel |
Hyperimmunoglobulin D with periodic fever [RCV000083846] |
Chr12:109581526..109581535 [GRCh38]
Chr12:110019331..110019340 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.511G>A (p.Gly171Arg) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083847]|Mevalonic aciduria [RCV001065483] |
Chr12:109581534 [GRCh38]
Chr12:110019339 [GRCh37]
Chr12:12q24.11 |
uncertain significance|not provided |
| NM_000431.4(MVK):c.516T>C (p.Asp172=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083848] |
Chr12:109581539 [GRCh38]
Chr12:110019344 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.564G>A (p.Trp188Ter) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262661]|Hyperimmunoglobulin D with periodic fever [RCV000083849]|Mevalonic aciduria [RCV001381668]|not provided [RCV000725893] |
Chr12:109586058 [GRCh38]
Chr12:110023863 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.571del (p.Gln191fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083850] |
Chr12:109586064 [GRCh38]
Chr12:110023869 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.591C>T (p.His197=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083851]|Mevalonic aciduria [RCV000396517]|Mevalonic aciduria [RCV000645100]|not provided [RCV000828083] |
Chr12:109586085 [GRCh38]
Chr12:110023890 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000431.4(MVK):c.608T>C (p.Val203Ala) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083853]|Mevalonic aciduria [RCV000799676]|not provided [RCV000217732] |
Chr12:109586102 [GRCh38]
Chr12:110023907 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.60T>A (p.His20Gln) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083854]|Mevalonic aciduria [RCV003764776]|not provided [RCV001509433] |
Chr12:109574882 [GRCh38]
Chr12:110012687 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.613A>G (p.Asn205Asp) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262662]|Hyperimmunoglobulin D with periodic fever [RCV000083855]|Mevalonic aciduria [RCV001857407]|Mevalonic aciduria [RCV004767066]|not provided [RCV001594835] |
Chr12:109586107 [GRCh38]
Chr12:110023912 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.625A>G (p.Thr209Ala) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083856] |
Chr12:109586119 [GRCh38]
Chr12:110023924 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.632-71A>G |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083857] |
Chr12:109586683 [GRCh38]
Chr12:110024488 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.632G>A (p.Gly211Glu) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083858] |
Chr12:109586754 [GRCh38]
Chr12:110024559 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.632G>C (p.Gly211Ala) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083859] |
Chr12:109586754 [GRCh38]
Chr12:110024559 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.644G>A (p.Arg215Gln) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083860]|Mevalonic aciduria [RCV001383593]|Mevalonic aciduria [RCV004786362] |
Chr12:109586766 [GRCh38]
Chr12:110024571 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.678-1G>C |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083861] |
Chr12:109590770 [GRCh38]
Chr12:110028575 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.684A>G (p.Pro228=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083862] |
Chr12:109590777 [GRCh38]
Chr12:110028582 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.701T>C (p.Leu234Pro) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083863] |
Chr12:109590794 [GRCh38]
Chr12:110028599 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.709A>T (p.Thr237Ser) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083864]|Mevalonic aciduria [RCV001381669]|Mevalonic aciduria [RCV004593989]|not provided [RCV000480950] |
Chr12:109590802 [GRCh38]
Chr12:110028607 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.728C>T (p.Thr243Ile) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083865] |
Chr12:109590821 [GRCh38]
Chr12:110028626 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.737T>C (p.Leu246Pro) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083867] |
Chr12:109590830 [GRCh38]
Chr12:110028635 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.748G>A (p.Val250Ile) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083868]|Mevalonic aciduria [RCV002513866] |
Chr12:109590841 [GRCh38]
Chr12:110028646 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|not provided |
| NM_000431.4(MVK):c.75C>T (p.Gly25=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083869] |
Chr12:109574897 [GRCh38]
Chr12:110012702 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.768+23G>C |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083870] |
Chr12:109590884 [GRCh38]
Chr12:110028689 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.769-103C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083871] |
Chr12:109591138 [GRCh38]
Chr12:110028943 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.769-7T>G |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262663]|Hyperimmunoglobulin D with periodic fever [RCV000083872]|Mevalonic aciduria [RCV001086945]|Mevalonic aciduria [RCV001114134]|Nemaline myopathy 5 [RCV001258306]|not provided [RCV000224758]|not specified [RCV001699120] |
Chr12:109591234 [GRCh38]
Chr12:110029039 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|not provided |
| NM_000431.4(MVK):c.769-7dup |
duplication |
Hyperimmunoglobulin D with periodic fever [RCV000083873] |
Chr12:109591227..109591228 [GRCh38]
Chr12:110029032..110029033 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.78+177G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083874]|not provided [RCV001610385] |
Chr12:109575077 [GRCh38]
Chr12:110012882 [GRCh37]
Chr12:12q24.11 |
benign|not provided |
| NM_000431.4(MVK):c.78+2del |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083875] |
Chr12:109574902 [GRCh38]
Chr12:110012707 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.79-62G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083876] |
Chr12:109575936 [GRCh38]
Chr12:110013741 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.790C>T (p.Leu264Phe) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083877]|Mevalonic aciduria [RCV001381670]|Mevalonic aciduria [RCV004700401] |
Chr12:109591262 [GRCh38]
Chr12:110029067 [GRCh37]
Chr12:12q24.11 |
pathogenic|not provided |
| NM_000431.4(MVK):c.794T>C (p.Leu265Pro) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083878] |
Chr12:109591266 [GRCh38]
Chr12:110029071 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.794T>G (p.Leu265Arg) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083879]|Retinal dystrophy [RCV001073278] |
Chr12:109591266 [GRCh38]
Chr12:110029071 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|not provided |
| NM_000431.4(MVK):c.79_226del (p.Val27Serfs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083880] |
|
not provided |
| NM_000431.4(MVK):c.815C>T (p.Ser272Phe) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262664]|Hyperimmunoglobulin D with periodic fever [RCV000083881]|Mevalonic aciduria [RCV005222744]|not provided [RCV004566976] |
Chr12:109591287 [GRCh38]
Chr12:110029092 [GRCh37]
Chr12:12q24.11 |
pathogenic|uncertain significance|not provided |
| NM_000431.4(MVK):c.829C>T (p.Arg277Cys) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083882]|Mevalonic aciduria [RCV002514466]|not provided [RCV003480055] |
Chr12:109591301 [GRCh38]
Chr12:110029106 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.830G>A (p.Arg277His) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262665]|Hyperimmunoglobulin D with periodic fever [RCV000083883]|Mevalonic aciduria [RCV000693669] |
Chr12:109591302 [GRCh38]
Chr12:110029107 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.831C>T (p.Arg277=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262666]|Hyperimmunoglobulin D with periodic fever [RCV000083884]|Mevalonic aciduria [RCV000400344]|Mevalonic aciduria [RCV000559530]|Retinal dystrophy [RCV003888452]|not provided [RCV001618260]|not specified [RCV000242677] |
Chr12:109591303 [GRCh38]
Chr12:110029108 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|not provided |
| NM_000431.4(MVK):c.857C>T (p.Pro286Leu) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083885]|Mevalonic aciduria [RCV000267148]|Mevalonic aciduria [RCV002483166] |
Chr12:109591329 [GRCh38]
Chr12:110029134 [GRCh37]
Chr12:12q24.11 |
uncertain significance|not provided |
| NM_000431.4(MVK):c.863C>T (p.Pro288Leu) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083886]|Mevalonic aciduria [RCV000688958]|Mevalonic aciduria [RCV003448262]|not provided [RCV001664395]|not specified [RCV004800278] |
Chr12:109591335 [GRCh38]
Chr12:110029140 [GRCh37]
Chr12:12q24.11 |
uncertain significance|not provided |
| NM_000431.4(MVK):c.86del (p.Leu29fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV000083887] |
Chr12:109576005 [GRCh38]
Chr12:110013810 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.877G>A (p.Val293Met) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083888]|Inborn genetic diseases [RCV002514467]|Mevalonic aciduria [RCV001339250]|not provided [RCV001701501]|not specified [RCV003987360] |
Chr12:109591349 [GRCh38]
Chr12:110029154 [GRCh37]
Chr12:12q24.11 |
uncertain significance|not provided |
| NM_000431.4(MVK):c.925G>A (p.Gly309Ser) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083889]|Mevalonic aciduria [RCV005003461]|not provided [RCV001701744] |
Chr12:109595067 [GRCh38]
Chr12:110032872 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.965C>G (p.Thr322Ser) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083891] |
Chr12:109595107 [GRCh38]
Chr12:110032912 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.976G>A (p.Gly326Arg) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083892]|Mevalonic aciduria [RCV002513867] |
Chr12:109595118 [GRCh38]
Chr12:110032923 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|not provided |
| NM_000431.4(MVK):c.986G>A (p.Ser329Asn) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083893]|Mevalonic aciduria [RCV003764777] |
Chr12:109595128 [GRCh38]
Chr12:110032933 [GRCh37]
Chr12:12q24.11 |
uncertain significance|not provided |
| NM_000431.4(MVK):c.987C>A (p.Ser329Arg) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000083894] |
Chr12:109595129 [GRCh38]
Chr12:110032934 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.155G>A (p.Ser52Asn) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262709]|Hyperimmunoglobulin D with periodic fever [RCV000343154]|Methylmalonic acidemia [RCV000345327]|Mevalonic aciduria [RCV000286141]|Mevalonic aciduria [RCV001514415]|not provided [RCV001725124]|not specified [RCV000117650] |
Chr12:109576074 [GRCh38]
Chr12:110013879 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.405G>A (p.Ser135=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262710]|Hyperimmunoglobulin D with periodic fever [RCV000259296]|Mevalonic aciduria [RCV000316822]|Mevalonic aciduria [RCV000545657]|not provided [RCV001538099]|not specified [RCV000117651] |
Chr12:109581428 [GRCh38]
Chr12:110019233 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.510C>T (p.Asp170=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262711]|Hyperimmunoglobulin D with periodic fever [RCV000286775]|Mevalonic aciduria [RCV000378359]|Mevalonic aciduria [RCV001516697]|Retinal dystrophy [RCV003888515]|not provided [RCV001705847]|not specified [RCV000117652] |
Chr12:109581533 [GRCh38]
Chr12:110019338 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.632-18A>G |
single nucleotide variant |
Mevalonic aciduria [RCV001516698]|not provided [RCV001812075]|not specified [RCV000250092] |
Chr12:109586736 [GRCh38]
Chr12:109586736..109586737 [GRCh38]
Chr12:110024541 [GRCh37]
Chr12:110024541..110024542 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.381G>A (p.Pro127=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262731]|Hyperimmunoglobulin D with periodic fever [RCV000356809]|Mevalonic aciduria [RCV000318327]|Mevalonic aciduria [RCV001080404]|not provided [RCV000756367]|not specified [RCV000126896] |
Chr12:109581404 [GRCh38]
Chr12:110019209 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|uncertain significance |
| NM_000431.4(MVK):c.441C>T (p.Ala147=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262732]|Hyperimmunoglobulin D with periodic fever [RCV001112785]|Mevalonic aciduria [RCV001089231]|Mevalonic aciduria [RCV001110797]|not provided [RCV000726083]|not specified [RCV000126897] |
Chr12:109581464 [GRCh38]
Chr12:110019269 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000431.4(MVK):c.413C>T (p.Pro138Leu) |
single nucleotide variant |
not provided [RCV001812418] |
Chr12:109581436 [GRCh38]
Chr12:110019241 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.508G>A (p.Asp170Asn) |
single nucleotide variant |
Retinal dystrophy [RCV004818776] |
Chr12:109581531 [GRCh38]
Chr12:110019336 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.747C>A (p.Gly249=) |
single nucleotide variant |
Mevalonic aciduria [RCV001494471] |
Chr12:109590840 [GRCh38]
Chr12:110028645 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.79-176G>A |
single nucleotide variant |
not provided [RCV001572385] |
Chr12:109575822 [GRCh38]
Chr12:110013627 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.924C>T (p.Leu308=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262765]|Hyperimmunoglobulin D with periodic fever [RCV001110868]|Mevalonic aciduria [RCV001085707]|Mevalonic aciduria [RCV001110867]|Retinal dystrophy [RCV004816257]|not provided [RCV000724566]|not specified [RCV000194317] |
Chr12:109595066 [GRCh38]
Chr12:110032871 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 12q24.11(chr12:109398462-109637311)x3 |
copy number gain |
See cases [RCV000136780] |
Chr12:109398462..109637311 [GRCh38]
Chr12:109836267..110075116 [GRCh37]
Chr12:108320650..108559499 [NCBI36]
Chr12:12q24.11 |
benign |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_000431.4(MVK):c.1039+1G>A |
single nucleotide variant |
Porokeratosis 3, disseminated superficial actinic type [RCV000201792] |
Chr12:109595182 [GRCh38]
Chr12:110032987 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.2(MVK):c.-1880_527+533del |
deletion |
Porokeratosis 3, disseminated superficial actinic type [RCV000201788] |
Chr12:109572008..109582083 [GRCh38]
Chr12:110009813..110019888 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| NM_000431.4(MVK):c.151C>T (p.Leu51Phe) |
single nucleotide variant |
not provided [RCV000756368] |
Chr12:109576070 [GRCh38]
Chr12:110013875 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.802A>G (p.Ile268Val) |
single nucleotide variant |
Mevalonic aciduria [RCV001340239]|not provided [RCV000213141] |
Chr12:109591274 [GRCh38]
Chr12:110029079 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|uncertain significance |
| NM_052845.4(MMAB):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV000210846] |
Chr12:109573479 [GRCh38]
Chr12:110011284 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.32C>T (p.Pro11Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV002516190]|not provided [RCV000214007] |
Chr12:109574854 [GRCh38]
Chr12:110012659 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.227-18T>C |
single nucleotide variant |
not provided [RCV000220735] |
Chr12:109579784 [GRCh38]
Chr12:110017589 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.14T>C (p.Val5Ala) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262823]|Hyperimmunoglobulin D with periodic fever [RCV001110713]|Mevalonic aciduria [RCV001052087]|Mevalonic aciduria [RCV001112691]|not provided [RCV000220987] |
Chr12:109574836 [GRCh38]
Chr12:110012641 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.226+4A>G |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262824]|Hyperimmunoglobulin D with periodic fever [RCV001114045]|MVK-related disorder [RCV004532813]|Mevalonic aciduria [RCV000533329]|Mevalonic aciduria [RCV001114046]|not provided [RCV001722201] |
Chr12:109576149 [GRCh38]
Chr12:110013954 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000431.4(MVK):c.819G>A (p.Leu273=) |
single nucleotide variant |
Mevalonic aciduria [RCV003765447]|not provided [RCV000218737] |
Chr12:109591291 [GRCh38]
Chr12:110029096 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.643C>T (p.Arg215Ter) |
single nucleotide variant |
Mevalonic aciduria [RCV001215092]|not provided [RCV000221444] |
Chr12:109586765 [GRCh38]
Chr12:110024570 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.624C>T (p.Ser208=) |
single nucleotide variant |
Mevalonic aciduria [RCV003765478]|not specified [RCV000237078] |
Chr12:109586118 [GRCh38]
Chr12:110023923 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.789C>G (p.Pro263=) |
single nucleotide variant |
Mevalonic aciduria [RCV000945468]|not provided [RCV005230177]|not specified [RCV000236622] |
Chr12:109591261 [GRCh38]
Chr12:110029066 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_000431.4(MVK):c.876C>T (p.Leu292=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262858]|Hyperimmunoglobulin D with periodic fever [RCV001110866]|Mevalonic aciduria [RCV000933984]|Mevalonic aciduria [RCV001110101]|not provided [RCV001528660]|not specified [RCV000237041] |
Chr12:109591348 [GRCh38]
Chr12:110029153 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_052845.4(MMAB):c.57C>A (p.Arg19=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000386273]|Methylmalonic acidemia [RCV000399708]|Methylmalonic aciduria, cblB type [RCV000616305]|Mevalonic aciduria [RCV000294302]|not provided [RCV001610742]|not specified [RCV000252654] |
Chr12:109573424 [GRCh38]
Chr12:110011229 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_052845.4(MMAB):c.56G>A (p.Arg19His) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000389849]|Methylmalonic acidemia [RCV000298750]|Methylmalonic aciduria, cblB type [RCV000605966]|Mevalonic aciduria [RCV000351606]|not provided [RCV001668597]|not specified [RCV000247935] |
Chr12:109573425 [GRCh38]
Chr12:110011230 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.371+8C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000314746]|Mevalonic aciduria [RCV000391679]|Mevalonic aciduria [RCV001521832]|not provided [RCV001651126]|not specified [RCV000250476] |
Chr12:109579954 [GRCh38]
Chr12:110017759 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_000431.4(MVK):c.1040-5C>T |
single nucleotide variant |
Mevalonic aciduria [RCV001455107]|not specified [RCV000253114] |
Chr12:109596421 [GRCh38]
Chr12:110034226 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.-15+11G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000374760]|Mevalonic aciduria [RCV000282519]|not provided [RCV004705235]|not specified [RCV000425122] |
Chr12:109573884 [GRCh38]
Chr12:110011689 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|uncertain significance |
| NM_000431.4(MVK):c.*468C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000302244]|Mevalonic aciduria [RCV000398477] |
Chr12:109597045 [GRCh38]
Chr12:110034850 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.317G>A (p.Arg106His) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000346491]|Mevalonic aciduria [RCV000400709]|Mevalonic aciduria [RCV002480115] |
Chr12:109579892 [GRCh38]
Chr12:110017697 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.*660G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000332777]|Mevalonic aciduria [RCV000270594] |
Chr12:109597237 [GRCh38]
Chr12:110035042 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_000431.4(MVK):c.*58dup |
duplication |
Hyperimmunoglobulin D with periodic fever [RCV000385099]|Mevalonic aciduria [RCV000268790]|Mevalonic aciduria [RCV001516699]|not provided [RCV001597063]|not specified [RCV003488519] |
Chr12:109596630..109596631 [GRCh38]
Chr12:110034435..110034436 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_052845.3(MMAB):c.-49G>A |
single nucleotide variant |
Methylmalonic acidemia [RCV000304786] |
Chr12:109573529 [GRCh38]
Chr12:110011334 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.331G>A (p.Ala111Thr) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000307076]|Mevalonic aciduria [RCV000363977]|Mevalonic aciduria [RCV001223629]|not provided [RCV001812793] |
Chr12:109579906 [GRCh38]
Chr12:110017711 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.527+13C>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000290313]|Mevalonic aciduria [RCV000347435]|Mevalonic aciduria [RCV002520784] |
Chr12:109581563 [GRCh38]
Chr12:110019368 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.*601G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000310374]|Mevalonic aciduria [RCV000362916] |
Chr12:109597178 [GRCh38]
Chr12:110034983 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.-15G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000274491]|Mevalonic aciduria [RCV000331789]|Mevalonic aciduria [RCV002480114] |
Chr12:109573873 [GRCh38]
Chr12:110011678 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.371+13T>C |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000274865]|Mevalonic aciduria [RCV000367061]|Mevalonic aciduria [RCV002056261]|not provided [RCV001612973] |
Chr12:109579959 [GRCh38]
Chr12:110017764 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|uncertain significance |
| NM_000431.4(MVK):c.78+8G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000316506]|Mevalonic aciduria [RCV000373574]|Mevalonic aciduria [RCV002056260] |
Chr12:109574908 [GRCh38]
Chr12:110012713 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.*332C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000281555]|Mevalonic aciduria [RCV000387605] |
Chr12:109596909 [GRCh38]
Chr12:110034714 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.527+8T>C |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000377665]|Mevalonic aciduria [RCV000320816]|Mevalonic aciduria [RCV001483816] |
Chr12:109581558 [GRCh38]
Chr12:110019363 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.*550G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000359303]|Mevalonic aciduria [RCV000271608] |
Chr12:109597127 [GRCh38]
Chr12:110034932 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.*75T>G |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000326137]|Mevalonic aciduria [RCV000387651] |
Chr12:109596652 [GRCh38]
Chr12:110034457 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.-9G>T |
single nucleotide variant |
Methylmalonic acidemia [RCV000402027]|Methylmalonic aciduria, cblB type [RCV001833453]|not specified [RCV000600720] |
Chr12:109573489 [GRCh38]
Chr12:110011294 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|uncertain significance |
| NM_000431.4(MVK):c.780C>A (p.Ile260=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262959]|Hyperimmunoglobulin D with periodic fever [RCV000312723]|Mevalonic aciduria [RCV000337228]|Mevalonic aciduria [RCV000547256]|not provided [RCV001711911] |
Chr12:109591252 [GRCh38]
Chr12:110029057 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|uncertain significance |
| NM_052845.4(MMAB):c.-4G>C |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV000335052]|not provided [RCV001612972] |
Chr12:109573484 [GRCh38]
Chr12:110011289 [GRCh37]
Chr12:12q24.11 |
benign|uncertain significance |
| NM_000431.4(MVK):c.*412C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000402297]|Mevalonic aciduria [RCV000338887] |
Chr12:109596989 [GRCh38]
Chr12:110034794 [GRCh37]
Chr12:12q24.11 |
benign|uncertain significance |
| NM_000431.4(MVK):c.-55G>C |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000268711]|Mevalonic aciduria [RCV000365449] |
Chr12:109573833 [GRCh38]
Chr12:110011638 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.904C>T (p.Gln302Ter) |
single nucleotide variant |
MVK-related disorder [RCV000305900]|Mevalonic aciduria [RCV001384473]|not provided [RCV000489947] |
Chr12:109595046 [GRCh38]
Chr12:110032851 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
| NM_000431.4(MVK):c.302G>A (p.Cys101Tyr) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000284532]|Mevalonic aciduria [RCV000395752] |
Chr12:109579877 [GRCh38]
Chr12:110017682 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.*308G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000295719]|Mevalonic aciduria [RCV000349344] |
Chr12:109596885 [GRCh38]
Chr12:110034690 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.598C>T (p.Pro200Ser) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000399509]|Mevalonic aciduria [RCV000350980] |
Chr12:109586092 [GRCh38]
Chr12:110023897 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.-33G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000326071]|Mevalonic aciduria [RCV000371377] |
Chr12:109573855 [GRCh38]
Chr12:110011660 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.3(MVK):c.-178A>G |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262958]|Hyperimmunoglobulin D with periodic fever [RCV000392326]|Methylmalonic acidemia [RCV000288056]|Mevalonic aciduria [RCV000310767]|not provided [RCV001546405] |
Chr12:109573710 [GRCh38]
Chr12:110011515 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|uncertain significance |
| NM_000431.4(MVK):c.768+4A>G |
single nucleotide variant |
Mevalonic aciduria [RCV000578362] |
Chr12:109590865 [GRCh38]
Chr12:110028670 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.936C>T (p.His312=) |
single nucleotide variant |
Mevalonic aciduria [RCV003767319]|not provided [RCV000584990] |
Chr12:109595078 [GRCh38]
Chr12:110032883 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.719C>G (p.Pro240Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV002491159]|not provided [RCV000585469] |
Chr12:109590812 [GRCh38]
Chr12:110028617 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1039+8G>C |
single nucleotide variant |
Mevalonic aciduria [RCV000552637] |
Chr12:109595189 [GRCh38]
Chr12:110032994 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.785C>T (p.Ala262Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004023574]|Mevalonic aciduria [RCV000798356]|not provided [RCV000523963] |
Chr12:109591257 [GRCh38]
Chr12:110029062 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.-29C>T |
single nucleotide variant |
not specified [RCV000438942] |
Chr12:109573859 [GRCh38]
Chr12:110011664 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.700C>T (p.Leu234=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV002446720]|MVK-related disorder [RCV004732879]|Mevalonic aciduria [RCV001391915]|not provided [RCV001704454] |
Chr12:109590793 [GRCh38]
Chr12:110028598 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.942T>A (p.Ser314=) |
single nucleotide variant |
Mevalonic aciduria [RCV001402488]|not provided [RCV001712197] |
Chr12:109595084 [GRCh38]
Chr12:110032889 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.-15+16C>T |
single nucleotide variant |
Mevalonic aciduria [RCV002481330]|not specified [RCV000423267] |
Chr12:109573889 [GRCh38]
Chr12:110011694 [GRCh37]
Chr12:12q24.11 |
likely benign |
| GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 |
copy number loss |
See cases [RCV000445832] |
Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.832G>A (p.Val278Met) |
single nucleotide variant |
Mevalonic aciduria [RCV002475929]|not provided [RCV000483487] |
Chr12:109591304 [GRCh38]
Chr12:110029109 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.498C>A (p.Asn166Lys) |
single nucleotide variant |
not provided [RCV000497525] |
Chr12:109581521 [GRCh38]
Chr12:110019326 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_000431.4(MVK):c.371+9G>A |
single nucleotide variant |
Mevalonic aciduria [RCV001434061]|not specified [RCV000506149] |
Chr12:109579955 [GRCh38]
Chr12:110017760 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.769-38C>T |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263715]|Mevalonic aciduria [RCV001513222]|not provided [RCV001712470]|not specified [RCV003488641] |
Chr12:109591203 [GRCh38]
Chr12:110029008 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.677+12del |
deletion |
Mevalonic aciduria [RCV002527361]|not specified [RCV000506759] |
Chr12:109586807 [GRCh38]
Chr12:110024612 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.79-164T>G |
single nucleotide variant |
not provided [RCV001675912]|not specified [RCV000507457] |
Chr12:109575834 [GRCh38]
Chr12:109575834..109575835 [GRCh38]
Chr12:110013639 [GRCh37]
Chr12:110013639..110013640 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.78+61A>G |
single nucleotide variant |
not provided [RCV001637057]|not specified [RCV000507585] |
Chr12:109574961 [GRCh38]
Chr12:110012766 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.885+24G>A |
single nucleotide variant |
not provided [RCV001683543]|not specified [RCV000507822] |
Chr12:109591381 [GRCh38]
Chr12:109591381..109591382 [GRCh38]
Chr12:110029186 [GRCh37]
Chr12:110029186..110029187 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.975C>T (p.Arg325=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263886]|Mevalonic aciduria [RCV000645105]|not provided [RCV000994975] |
Chr12:109595117 [GRCh38]
Chr12:110032922 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.864G>A (p.Pro288=) |
single nucleotide variant |
Mevalonic aciduria [RCV000645102] |
Chr12:109591336 [GRCh38]
Chr12:110029141 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NC_000012.12:g.109573660G>A |
single nucleotide variant |
Mevalonic aciduria [RCV005208592]|not provided [RCV002060747]|not specified [RCV000734386] |
Chr12:109573660 [GRCh38]
Chr12:110011465 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.-14-8C>T |
single nucleotide variant |
not specified [RCV000609467] |
Chr12:109574801 [GRCh38]
Chr12:110012606 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.618T>A (p.Ala206=) |
single nucleotide variant |
Mevalonic aciduria [RCV001434934]|not specified [RCV000610415] |
Chr12:109586112 [GRCh38]
Chr12:110023917 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.3(MMAB):c.-30G>T |
single nucleotide variant |
not specified [RCV000608165] |
Chr12:109573510 [GRCh38]
Chr12:110011315 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.-7C>G |
single nucleotide variant |
MMAB-related disorder [RCV003905627]|not specified [RCV000614826] |
Chr12:109573487 [GRCh38]
Chr12:110011292 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.634G>A (p.Gly212Arg) |
single nucleotide variant |
not provided [RCV000512937] |
Chr12:109586756 [GRCh38]
Chr12:110024561 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) |
single nucleotide variant |
MVK-related disorder [RCV004533440]|Mevalonic aciduria [RCV001855379]|not provided [RCV000658667] |
Chr12:109581541 [GRCh38]
Chr12:110019346 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.349C>T (p.Leu117=) |
single nucleotide variant |
Mevalonic aciduria [RCV001086700]|not provided [RCV000658666] |
Chr12:109579924 [GRCh38]
Chr12:110017729 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) |
single nucleotide variant |
Methylmalonic acidemia [RCV005240422]|Methylmalonic aciduria, cblB type [RCV000665638]|not provided [RCV001576371] |
Chr12:109573469 [GRCh38]
Chr12:110011274 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic |
| NM_000431.4(MVK):c.119G>A (p.Arg40Gln) |
single nucleotide variant |
Mevalonic aciduria [RCV000702475]|not provided [RCV000757502] |
Chr12:109576038 [GRCh38]
Chr12:110013843 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1096G>C (p.Asp366His) |
single nucleotide variant |
Mevalonic aciduria [RCV000692712] |
Chr12:109596482 [GRCh38]
Chr12:110034287 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV002466569]|Mevalonic aciduria [RCV000701139]|not specified [RCV001002446] |
Chr12:109596437 [GRCh38]
Chr12:110034242 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.545T>A (p.Leu182Ter) |
single nucleotide variant |
MVK-related disorder [RCV004544947]|Mevalonic aciduria [RCV000695407] |
Chr12:109586039 [GRCh38]
Chr12:110023844 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic |
| NM_000431.4(MVK):c.595A>T (p.Asn199Tyr) |
single nucleotide variant |
Mevalonic aciduria [RCV000702878] |
Chr12:109586089 [GRCh38]
Chr12:110023894 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.519C>T (p.Cys173=) |
single nucleotide variant |
Mevalonic aciduria [RCV003769379]|not specified [RCV001000686] |
Chr12:109581542 [GRCh38]
Chr12:110019347 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.945G>A (p.Leu315=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV003493769]|Mevalonic aciduria [RCV001370355]|not specified [RCV001000904] |
Chr12:109595087 [GRCh38]
Chr12:110032892 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.1039G>A (p.Gly347Arg) |
single nucleotide variant |
not provided [RCV001531168] |
Chr12:109595181 [GRCh38]
Chr12:110032986 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.362G>A (p.Arg121Gln) |
single nucleotide variant |
Mevalonic aciduria [RCV002501948]|not provided [RCV001582084] |
Chr12:109579937 [GRCh38]
Chr12:110017742 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_000431.4(MVK):c.226+106G>A |
single nucleotide variant |
not provided [RCV001609474] |
Chr12:109576251 [GRCh38]
Chr12:110014056 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.885+148C>T |
single nucleotide variant |
not provided [RCV001666029] |
Chr12:109591505 [GRCh38]
Chr12:110029310 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.678-243A>G |
single nucleotide variant |
not provided [RCV001678967] |
Chr12:109590528 [GRCh38]
Chr12:110028333 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.*76G>T |
single nucleotide variant |
not provided [RCV001611489] |
Chr12:109596653 [GRCh38]
Chr12:110034458 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.227-40C>G |
single nucleotide variant |
not provided [RCV001645085] |
Chr12:109579762 [GRCh38]
Chr12:110017567 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.768+117C>A |
single nucleotide variant |
not provided [RCV001681679] |
Chr12:109590978 [GRCh38]
Chr12:110028783 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.837G>A (p.Leu279=) |
single nucleotide variant |
not provided [RCV000939711] |
Chr12:109591309 [GRCh38]
Chr12:110029114 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.380C>T (p.Pro127Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV001002699]|Mevalonic aciduria [RCV005004477]|Retinal dystrophy [RCV003890156]|not provided [RCV003442138] |
Chr12:109581403 [GRCh38]
Chr12:110019208 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000431.4(MVK):c.630G>A (p.Trp210Ter) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001002702] |
Chr12:109586124 [GRCh38]
Chr12:110023929 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.1074G>A (p.Gln358=) |
single nucleotide variant |
not provided [RCV000761837] |
Chr12:109596460 [GRCh38]
Chr12:110034265 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.718C>T (p.Pro240Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003298933]|Mevalonic aciduria [RCV002488390]|not provided [RCV001570533] |
Chr12:109590811 [GRCh38]
Chr12:110028616 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.178C>T (p.Arg60Trp) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001114043]|Mevalonic aciduria [RCV001114044]|Mevalonic aciduria [RCV001856503]|not provided [RCV001811663] |
Chr12:109576097 [GRCh38]
Chr12:110013902 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.528-18G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003771836]|not provided [RCV001681637] |
Chr12:109586004 [GRCh38]
Chr12:110023809 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_000431.4(MVK):c.*358G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001114211]|Mevalonic aciduria [RCV001114212] |
Chr12:109596935 [GRCh38]
Chr12:110034740 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.769-181G>A |
single nucleotide variant |
not provided [RCV001669173] |
Chr12:109591060 [GRCh38]
Chr12:110028865 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.327G>A (p.Val109=) |
single nucleotide variant |
not provided [RCV000923484] |
Chr12:109579902 [GRCh38]
Chr12:110017707 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.724A>G (p.Asn242Asp) |
single nucleotide variant |
Mevalonic aciduria [RCV001057332] |
Chr12:109590817 [GRCh38]
Chr12:110028622 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1073A>C (p.Gln358Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV001059499] |
Chr12:109596459 [GRCh38]
Chr12:110034264 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.874C>T (p.Leu292Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002535777]|Mevalonic aciduria [RCV001037197]|not provided [RCV000788518] |
Chr12:109591346 [GRCh38]
Chr12:110029151 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.-14-17T>C |
single nucleotide variant |
Mevalonic aciduria [RCV002495198]|not provided [RCV000828082] |
Chr12:109574792 [GRCh38]
Chr12:110012597 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.294T>C (p.Pro98=) |
single nucleotide variant |
Mevalonic aciduria [RCV000983547] |
Chr12:109579869 [GRCh38]
Chr12:110017674 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.16C>T (p.Leu6=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV000981568] |
Chr12:109573465 [GRCh38]
Chr12:110011270 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.937G>A (p.Ala313Thr) |
single nucleotide variant |
Mevalonic aciduria [RCV000799449] |
Chr12:109595079 [GRCh38]
Chr12:110032884 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.961G>A (p.Val321Met) |
single nucleotide variant |
Mevalonic aciduria [RCV000810842] |
Chr12:109595103 [GRCh38]
Chr12:110032908 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.689_690del (p.Leu230fs) |
microsatellite |
Hyperimmunoglobulin D with periodic fever [RCV000988902] |
Chr12:109590779..109590780 [GRCh38]
Chr12:110028584..110028585 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.663T>G (p.Ile221Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002535874]|Mevalonic aciduria [RCV000792517] |
Chr12:109586785 [GRCh38]
Chr12:110024590 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.227A>G (p.Glu76Gly) |
single nucleotide variant |
Mevalonic aciduria [RCV000795489] |
Chr12:109579802 [GRCh38]
Chr12:110017607 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.58C>A (p.His20Asn) |
single nucleotide variant |
Mevalonic aciduria [RCV000804120] |
Chr12:109574880 [GRCh38]
Chr12:110012685 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.372-302C>T |
single nucleotide variant |
not provided [RCV000840444] |
Chr12:109581093 [GRCh38]
Chr12:110018898 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.1039+284G>C |
single nucleotide variant |
not provided [RCV000840445] |
Chr12:109595465 [GRCh38]
Chr12:110033270 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.943_944del (p.Leu315fs) |
microsatellite |
Mevalonic aciduria [RCV001797820]|Mevalonic aciduria [RCV002489730]|not provided [RCV001090937] |
Chr12:109595081..109595082 [GRCh38]
Chr12:110032886..110032887 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic |
| NM_052845.4(MMAB):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001067639] |
Chr12:109573480 [GRCh38]
Chr12:110011285 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_052845.4(MMAB):c.7G>A (p.Val3Met) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001113946] |
Chr12:109573474 [GRCh38]
Chr12:110011279 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.484G>A (p.Glu162Lys) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001112787]|Mevalonic aciduria [RCV000824486]|Mevalonic aciduria [RCV001112786] |
Chr12:109581507 [GRCh38]
Chr12:110019312 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.371+313_371+314insCC |
insertion |
not provided [RCV000840457] |
Chr12:109580259..109580260 [GRCh38]
Chr12:110018064..110018065 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.349_350del (p.Leu117fs) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV003989122]|not provided [RCV000788596] |
Chr12:109579924..109579925 [GRCh38]
Chr12:110017729..110017730 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic |
| NM_000431.4(MVK):c.371+1GT[4] |
microsatellite |
Mevalonic aciduria [RCV000795315] |
Chr12:109579946..109579947 [GRCh38]
Chr12:110017751..110017752 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.166A>G (p.Ile56Val) |
single nucleotide variant |
Mevalonic aciduria [RCV000823152] |
Chr12:109576085 [GRCh38]
Chr12:110013890 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.-11C>G |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001109915]|Methylmalonic aciduria, cblB type [RCV001113947]|Mevalonic aciduria [RCV001109914] |
Chr12:109573491 [GRCh38]
Chr12:110011296 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.258G>A (p.Glu86=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001110009]|Mevalonic aciduria [RCV001114048]|Mevalonic aciduria [RCV001520566]|Retinal dystrophy [RCV003890253] |
Chr12:109579833 [GRCh38]
Chr12:110017638 [GRCh37]
Chr12:12q24.11 |
benign|likely benign|uncertain significance |
| NM_000431.4(MVK):c.79-2A>G |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV003142150]|Mevalonic aciduria [RCV001213473] |
Chr12:109575996 [GRCh38]
Chr12:110013801 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.*90G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001112857]|Mevalonic aciduria [RCV001110869] |
Chr12:109596667 [GRCh38]
Chr12:110034472 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.*333G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001112860]|Mevalonic aciduria [RCV001114210] |
Chr12:109596910 [GRCh38]
Chr12:110034715 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.678-3C>A |
single nucleotide variant |
Mevalonic aciduria [RCV001239363] |
Chr12:109590768 [GRCh38]
Chr12:110028573 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1175C>T (p.Ala392Val) |
single nucleotide variant |
Mevalonic aciduria [RCV001206135] |
Chr12:109596561 [GRCh38]
Chr12:110034366 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.349C>G (p.Leu117Val) |
single nucleotide variant |
Mevalonic aciduria [RCV001240888] |
Chr12:109579924 [GRCh38]
Chr12:110017729 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.449C>T (p.Ser150Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV001209009] |
Chr12:109581472 [GRCh38]
Chr12:110019277 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.722G>A (p.Arg241His) |
single nucleotide variant |
Mevalonic aciduria [RCV001210896] |
Chr12:109590815 [GRCh38]
Chr12:110028620 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.768+182T>A |
single nucleotide variant |
not provided [RCV001713341] |
Chr12:109591043 [GRCh38]
Chr12:110028848 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.768+12T>G |
single nucleotide variant |
not provided [RCV001670995] |
Chr12:109590873 [GRCh38]
Chr12:110028678 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.885+92G>A |
single nucleotide variant |
not provided [RCV001639446] |
Chr12:109591449 [GRCh38]
Chr12:110029254 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.528-155G>A |
single nucleotide variant |
not provided [RCV001656239] |
Chr12:109585867 [GRCh38]
Chr12:110023672 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.18A>G (p.Leu6=) |
single nucleotide variant |
Mevalonic aciduria [RCV003771644]|not provided [RCV001531166] |
Chr12:109574840 [GRCh38]
Chr12:110012645 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) |
single nucleotide variant |
MMAB-related disorder [RCV003910420]|Methylmalonic aciduria, cblB type [RCV000883287] |
Chr12:109573471 [GRCh38]
Chr12:110011276 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.1039+7C>T |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264109]|Mevalonic aciduria [RCV000941045] |
Chr12:109595188 [GRCh38]
Chr12:110032993 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.504G>A (p.Leu168=) |
single nucleotide variant |
Mevalonic aciduria [RCV003768905] |
Chr12:109581527 [GRCh38]
Chr12:110019332 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.527+9G>A |
single nucleotide variant |
Mevalonic aciduria [RCV001481459] |
Chr12:109581559 [GRCh38]
Chr12:110019364 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.527+10G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001114133]|Mevalonic aciduria [RCV000974783]|Mevalonic aciduria [RCV001112788]|not provided [RCV003736946] |
Chr12:109581560 [GRCh38]
Chr12:110019365 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.678-8C>A |
single nucleotide variant |
Mevalonic aciduria [RCV002540962] |
Chr12:109590763 [GRCh38]
Chr12:110028568 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.361C>T (p.Arg121Trp) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264149]|Mevalonic aciduria [RCV001038599]|not provided [RCV001836933] |
Chr12:109579936 [GRCh38]
Chr12:110017741 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.520G>A (p.Val174Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV001060711] |
Chr12:109581543 [GRCh38]
Chr12:110019348 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.33G>A (p.Pro11=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001112692]|Mevalonic aciduria [RCV001112693]|Mevalonic aciduria [RCV003769133]|Retinal dystrophy [RCV003890254] |
Chr12:109574855 [GRCh38]
Chr12:110012660 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000431.4(MVK):c.1126G>A (p.Gly376Ser) |
single nucleotide variant |
Mevalonic aciduria [RCV001227276]|not provided [RCV004794511] |
Chr12:109596512 [GRCh38]
Chr12:110034317 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000431.4(MVK):c.80T>G (p.Val27Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002561815]|Mevalonic aciduria [RCV001213476] |
Chr12:109575999 [GRCh38]
Chr12:110013804 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.297C>T (p.Asp99=) |
single nucleotide variant |
Mevalonic aciduria [RCV001428727]|not provided [RCV000912022] |
Chr12:109579872 [GRCh38]
Chr12:110017677 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.886-172T>C |
single nucleotide variant |
not provided [RCV001561938] |
Chr12:109594856 [GRCh38]
Chr12:110032661 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78G>A (p.Lys26=) |
single nucleotide variant |
not provided [RCV001547901] |
Chr12:109574900 [GRCh38]
Chr12:110012705 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.528-100A>G |
single nucleotide variant |
not provided [RCV001570013] |
Chr12:109585922 [GRCh38]
Chr12:110023727 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.768+86G>C |
single nucleotide variant |
not provided [RCV001593908] |
Chr12:109590947 [GRCh38]
Chr12:110028752 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1039+196C>T |
single nucleotide variant |
not provided [RCV001655473] |
Chr12:109595377 [GRCh38]
Chr12:110033182 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.677+103T>C |
single nucleotide variant |
not provided [RCV001687222] |
Chr12:109586902 [GRCh38]
Chr12:110024707 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.226+105C>T |
single nucleotide variant |
not provided [RCV001675112]|not specified [RCV003401593] |
Chr12:109576250 [GRCh38]
Chr12:110014055 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.226+180A>G |
single nucleotide variant |
not provided [RCV001592549] |
Chr12:109576325 [GRCh38]
Chr12:110014130 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.678-7C>A |
single nucleotide variant |
not provided [RCV001597686] |
Chr12:109590764 [GRCh38]
Chr12:110028569 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.768+24C>T |
single nucleotide variant |
not provided [RCV001659477] |
Chr12:109590885 [GRCh38]
Chr12:110028690 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.226+8C>T |
single nucleotide variant |
not provided [RCV001656108] |
Chr12:109576153 [GRCh38]
Chr12:110013958 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.1040-91G>A |
single nucleotide variant |
not provided [RCV001654874] |
Chr12:109596335 [GRCh38]
Chr12:110034140 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.-14-104C>G |
single nucleotide variant |
not provided [RCV001717154] |
Chr12:109574705 [GRCh38]
Chr12:110012510 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.528-138G>A |
single nucleotide variant |
not provided [RCV001620562] |
Chr12:109585884 [GRCh38]
Chr12:110023689 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.*168C>T |
single nucleotide variant |
not provided [RCV001715071] |
Chr12:109596745 [GRCh38]
Chr12:110034550 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.216A>G (p.Thr72=) |
single nucleotide variant |
Mevalonic aciduria [RCV002538636]|not provided [RCV001699862] |
Chr12:109576135 [GRCh38]
Chr12:110013940 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.678-38T>C |
single nucleotide variant |
not provided [RCV001638265] |
Chr12:109590733 [GRCh38]
Chr12:110028538 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.*566G>C |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001110177]|Mevalonic aciduria [RCV001110176] |
Chr12:109597143 [GRCh38]
Chr12:110034948 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.*125G>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001112859]|Mevalonic aciduria [RCV001112858] |
Chr12:109596702 [GRCh38]
Chr12:110034507 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.298G>A (p.Asp100Asn) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264178]|Mevalonic aciduria [RCV001070922]|not provided [RCV001090934] |
Chr12:109579873 [GRCh38]
Chr12:110017678 [GRCh37]
Chr12:12q24.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000431.4(MVK):c.*486C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001110174]|Mevalonic aciduria [RCV001110175] |
Chr12:109597063 [GRCh38]
Chr12:110034868 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.*571G>A |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001110937]|Mevalonic aciduria [RCV001110178] |
Chr12:109597148 [GRCh38]
Chr12:110034953 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.974G>A (p.Arg325His) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264139]|Mevalonic aciduria [RCV001225844]|not specified [RCV001001117] |
Chr12:109595116 [GRCh38]
Chr12:110032921 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.78+105A>G |
single nucleotide variant |
not provided [RCV001615428] |
Chr12:109575005 [GRCh38]
Chr12:110012810 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.987C>G (p.Ser329Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV001052205]|not provided [RCV004702606] |
Chr12:109595129 [GRCh38]
Chr12:110032934 [GRCh37]
Chr12:12q24.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000431.4(MVK):c.-14-147G>T |
single nucleotide variant |
not provided [RCV001710701] |
Chr12:109574662 [GRCh38]
Chr12:110012467 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.870G>T (p.Gln290His) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001110100]|Mevalonic aciduria [RCV001058748]|Mevalonic aciduria [RCV001110099] |
Chr12:109591342 [GRCh38]
Chr12:110029147 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.885+117C>A |
single nucleotide variant |
not provided [RCV001534042] |
Chr12:109591474 [GRCh38]
Chr12:110029279 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.885+51A>C |
single nucleotide variant |
not provided [RCV001666055] |
Chr12:109591408 [GRCh38]
Chr12:110029213 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.78+265A>G |
single nucleotide variant |
not provided [RCV001586405] |
Chr12:109575165 [GRCh38]
Chr12:110012970 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NC_000012.12:g.109573681T>A |
single nucleotide variant |
not provided [RCV001587641] |
Chr12:109573681 [GRCh38]
Chr12:110011486 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_000431.4(MVK):c.527+53C>T |
single nucleotide variant |
not provided [RCV001668706] |
Chr12:109581603 [GRCh38]
Chr12:110019408 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.768+101T>G |
single nucleotide variant |
not provided [RCV001649864] |
Chr12:109590962 [GRCh38]
Chr12:110028767 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.681G>A (p.Ser227=) |
single nucleotide variant |
Mevalonic aciduria [RCV001247038] |
Chr12:109590774 [GRCh38]
Chr12:110028579 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3 |
copy number gain |
not provided [RCV001006530] |
Chr12:109199902..110267493 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.927C>T (p.Gly309=) |
single nucleotide variant |
Mevalonic aciduria [RCV001862684]|not provided [RCV001090936] |
Chr12:109595069 [GRCh38]
Chr12:110032874 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000431.4(MVK):c.775G>A (p.Glu259Lys) |
single nucleotide variant |
Mevalonic aciduria [RCV001059755] |
Chr12:109591247 [GRCh38]
Chr12:110029052 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.37A>C (p.Lys13Gln) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001112694]|Mevalonic aciduria [RCV001112695]|Mevalonic aciduria [RCV001862885] |
Chr12:109574859 [GRCh38]
Chr12:110012664 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.78+1G>A |
single nucleotide variant |
Mevalonic aciduria [RCV001233803] |
Chr12:109574901 [GRCh38]
Chr12:110012706 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.36G>T (p.Gly12=) |
single nucleotide variant |
Mevalonic aciduria [RCV001204309] |
Chr12:109574858 [GRCh38]
Chr12:110012663 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.371+4T>C |
single nucleotide variant |
Mevalonic aciduria [RCV001215241] |
Chr12:109579950 [GRCh38]
Chr12:110017755 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.187G>A (p.Asp63Asn) |
single nucleotide variant |
Mevalonic aciduria [RCV001068432] |
Chr12:109576106 [GRCh38]
Chr12:110013911 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.755A>G (p.Asn252Ser) |
single nucleotide variant |
Mevalonic aciduria [RCV001069372] |
Chr12:109590848 [GRCh38]
Chr12:110028653 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.787C>T (p.Pro263Ser) |
single nucleotide variant |
not provided [RCV001200091] |
Chr12:109591259 [GRCh38]
Chr12:110029064 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.29C>T (p.Ala10Val) |
single nucleotide variant |
not provided [RCV001093431] |
Chr12:109574851 [GRCh38]
Chr12:110012656 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.155G>T (p.Ser52Ile) |
single nucleotide variant |
not provided [RCV001093433] |
Chr12:109576074 [GRCh38]
Chr12:110013879 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.632-3del |
deletion |
Mevalonic aciduria [RCV001203870] |
Chr12:109586749 [GRCh38]
Chr12:110024554 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.185C>T (p.Thr62Met) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV001112610]|MMAB-related disorder [RCV003927724]|Methylmalonic aciduria, cblB type [RCV000539204]|Mevalonic aciduria [RCV001112609]|not provided [RCV001704966]|not specified [RCV001804921] |
Chr12:109571660 [GRCh38]
Chr12:110009465 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_000431.4(MVK):c.503_508del (p.Leu168_Asp170delinsHis) |
deletion |
Hyperimmunoglobulin D with periodic fever [RCV001267774] |
Chr12:109581526..109581531 [GRCh38]
Chr12:110019331..110019336 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 |
copy number loss |
not provided [RCV001259630] |
Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12 |
pathogenic |
| NM_000431.4(MVK):c.850del (p.Glu284fs) |
deletion |
not provided [RCV001268727] |
Chr12:109591318 [GRCh38]
Chr12:110029123 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.752G>A (p.Arg251Lys) |
single nucleotide variant |
Mevalonic aciduria [RCV001321634] |
Chr12:109590845 [GRCh38]
Chr12:110028650 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004035446]|Methylmalonic aciduria, cblB type [RCV001277396] |
Chr12:109573467 [GRCh38]
Chr12:110011272 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NC_000012.12:g.109573541T>C |
single nucleotide variant |
not provided [RCV001786805] |
Chr12:109573541 [GRCh38]
Chr12:110011346 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.450G>C (p.Ser150=) |
single nucleotide variant |
Mevalonic aciduria [RCV001413985]|not provided [RCV003738065] |
Chr12:109581473 [GRCh38]
Chr12:110019278 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.393C>T (p.Ile131=) |
single nucleotide variant |
Mevalonic aciduria [RCV001396425] |
Chr12:109581416 [GRCh38]
Chr12:110019221 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.60T>C (p.His20=) |
single nucleotide variant |
Mevalonic aciduria [RCV001414880] |
Chr12:109574882 [GRCh38]
Chr12:110012687 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+7del |
deletion |
Mevalonic aciduria [RCV001422702] |
Chr12:109586806 [GRCh38]
Chr12:110024611 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1174G>A (p.Ala392Thr) |
single nucleotide variant |
Mevalonic aciduria [RCV001343420] |
Chr12:109596560 [GRCh38]
Chr12:110034365 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.631+3A>G |
single nucleotide variant |
Mevalonic aciduria [RCV001346634] |
Chr12:109586128 [GRCh38]
Chr12:110023933 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.512G>A (p.Gly171Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002543831]|Mevalonic aciduria [RCV001321804]|not provided [RCV003738041] |
Chr12:109581535 [GRCh38]
Chr12:110019340 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.254C>T (p.Ser85Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV001324011] |
Chr12:109579829 [GRCh38]
Chr12:110017634 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.592G>A (p.Gly198Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV001307794] |
Chr12:109586086 [GRCh38]
Chr12:110023891 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1055A>C (p.Glu352Ala) |
single nucleotide variant |
Mevalonic aciduria [RCV001347854] |
Chr12:109596441 [GRCh38]
Chr12:110034246 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.889C>A (p.Leu297Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV001305146] |
Chr12:109595031 [GRCh38]
Chr12:110032836 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1128C>T (p.Gly376=) |
single nucleotide variant |
Mevalonic aciduria [RCV001418126]|Retinal dystrophy [RCV003887989]|not provided [RCV001655711] |
Chr12:109596514 [GRCh38]
Chr12:110034319 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_000431.4(MVK):c.653A>C (p.Gln218Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV001368948] |
Chr12:109586775 [GRCh38]
Chr12:110024580 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.244A>G (p.Thr82Ala) |
single nucleotide variant |
Mevalonic aciduria [RCV001371542] |
Chr12:109579819 [GRCh38]
Chr12:110017624 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.524A>G (p.Asn175Ser) |
single nucleotide variant |
Mevalonic aciduria [RCV001371827] |
Chr12:109581547 [GRCh38]
Chr12:110019352 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.799T>C (p.Ser267Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV001348249] |
Chr12:109591271 [GRCh38]
Chr12:110029076 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|uncertain significance |
| NM_000431.4(MVK):c.144A>G (p.Lys48=) |
single nucleotide variant |
Mevalonic aciduria [RCV001413640] |
Chr12:109576063 [GRCh38]
Chr12:110013868 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.565G>T (p.Ala189Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264264]|Mevalonic aciduria [RCV001315807]|not provided [RCV004770038] |
Chr12:109586059 [GRCh38]
Chr12:110023864 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.368A>T (p.Gln123Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV001349561] |
Chr12:109579943 [GRCh38]
Chr12:110017748 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NC_000012.11:g.(?_110032813)_(110034402_?)del |
deletion |
Mevalonic aciduria [RCV001389236] |
Chr12:110032813..110034402 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.789C>A (p.Pro263=) |
single nucleotide variant |
Mevalonic aciduria [RCV001481339]|not provided [RCV001692387] |
Chr12:109591261 [GRCh38]
Chr12:110029066 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_000431.4(MVK):c.780C>T (p.Ile260=) |
single nucleotide variant |
Mevalonic aciduria [RCV001457000]|not provided [RCV004809616] |
Chr12:109591252 [GRCh38]
Chr12:110029057 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1040-4G>A |
single nucleotide variant |
Mevalonic aciduria [RCV001503377] |
Chr12:109596422 [GRCh38]
Chr12:110034227 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.921C>T (p.Ala307=) |
single nucleotide variant |
Mevalonic aciduria [RCV001485214] |
Chr12:109595063 [GRCh38]
Chr12:110032868 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.19C>T (p.Leu7=) |
single nucleotide variant |
Mevalonic aciduria [RCV001492967] |
Chr12:109574841 [GRCh38]
Chr12:110012646 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.855C>T (p.Ala285=) |
single nucleotide variant |
MVK-related disorder [RCV004533816]|Mevalonic aciduria [RCV001470246]|not provided [RCV003738076] |
Chr12:109591327 [GRCh38]
Chr12:110029132 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001377746] |
Chr12:109573479 [GRCh38]
Chr12:110011284 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.372-9G>A |
single nucleotide variant |
Mevalonic aciduria [RCV001444482] |
Chr12:109581386 [GRCh38]
Chr12:110019191 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.729C>G (p.Thr243=) |
single nucleotide variant |
Mevalonic aciduria [RCV001444664] |
Chr12:109590822 [GRCh38]
Chr12:110028627 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.420G>A (p.Gly140=) |
single nucleotide variant |
Mevalonic aciduria [RCV001445050] |
Chr12:109581443 [GRCh38]
Chr12:110019248 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.528-226C>T |
single nucleotide variant |
not provided [RCV001588710] |
Chr12:109585796 [GRCh38]
Chr12:110023601 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NC_000012.12:g.109573563A>G |
single nucleotide variant |
not provided [RCV001588504] |
Chr12:109573563 [GRCh38]
Chr12:110011368 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78+141G>A |
single nucleotide variant |
not provided [RCV001611194] |
Chr12:109575041 [GRCh38]
Chr12:110012846 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.1116C>T (p.Ile372=) |
single nucleotide variant |
MVK-related disorder [RCV004733340]|Mevalonic aciduria [RCV001476430] |
Chr12:109596502 [GRCh38]
Chr12:110034307 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.1059G>A (p.Val353=) |
single nucleotide variant |
Mevalonic aciduria [RCV001479864] |
Chr12:109596445 [GRCh38]
Chr12:110034250 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1040-10C>T |
single nucleotide variant |
Mevalonic aciduria [RCV001483493] |
Chr12:109596416 [GRCh38]
Chr12:110034221 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.*183C>T |
single nucleotide variant |
not provided [RCV001654661] |
Chr12:109596760 [GRCh38]
Chr12:110034565 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.528-254dup |
duplication |
not provided [RCV001616154] |
Chr12:109585759..109585760 [GRCh38]
Chr12:110023564..110023565 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.-15+61G>A |
single nucleotide variant |
not provided [RCV001688184] |
Chr12:109573934 [GRCh38]
Chr12:110011739 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.747C>T (p.Gly249=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264332]|Mevalonic aciduria [RCV001455288] |
Chr12:109590840 [GRCh38]
Chr12:110028645 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.534C>G (p.Thr178=) |
single nucleotide variant |
MVK-related disorder [RCV004540289]|Mevalonic aciduria [RCV001418045] |
Chr12:109586028 [GRCh38]
Chr12:110023833 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.605dup (p.Val203fs) |
duplication |
Mevalonic aciduria [RCV001383960] |
Chr12:109586097..109586098 [GRCh38]
Chr12:110023902..110023903 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NC_000012.11:g.(?_110012646)_110013970del |
deletion |
Mevalonic aciduria [RCV001378769] |
|
likely pathogenic |
| NM_000431.4(MVK):c.62C>T (p.Ala21Val) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV002243551] |
Chr12:109574884 [GRCh38]
Chr12:110012689 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.733G>T (p.Ala245Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264385]|Mevalonic aciduria [RCV005006003]|not specified [RCV001733797] |
Chr12:109590826 [GRCh38]
Chr12:110028631 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1067C>A (p.Thr356Lys) |
single nucleotide variant |
Mevalonic aciduria [RCV001892402] |
Chr12:109596453 [GRCh38]
Chr12:110034258 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| G326R |
variation |
Hyperimmunoglobulin D with periodic fever [RCV001824547] |
|
pathogenic |
| NM_000431.4(MVK):c.119G>T (p.Arg40Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV002023868]|not specified [RCV005232779] |
Chr12:109576038 [GRCh38]
Chr12:110013843 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 |
copy number loss |
not provided [RCV001834231] |
Chr12:104230462..111984801 [GRCh37]
Chr12:12q23.3-24.12 |
pathogenic |
| NM_000431.4(MVK):c.886-2dup |
duplication |
Mevalonic aciduria [RCV001986807] |
Chr12:109595025..109595026 [GRCh38]
Chr12:110032830..110032831 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.313G>A (p.Glu105Lys) |
single nucleotide variant |
Mevalonic aciduria [RCV001948637] |
Chr12:109579888 [GRCh38]
Chr12:110017693 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.64G>C (p.Val22Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV001969068] |
Chr12:109574886 [GRCh38]
Chr12:110012691 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) |
copy number loss |
not specified [RCV002053016] |
Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.483C>T (p.Cys161=) |
single nucleotide variant |
Mevalonic aciduria [RCV001968152] |
Chr12:109581506 [GRCh38]
Chr12:110019311 [GRCh37]
Chr12:12q24.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| MVK, TYR116HIS |
variation |
Hyperimmunoglobulin D with periodic fever [RCV001824546] |
|
pathogenic |
| NM_000431.4(MVK):c.721C>T (p.Arg241Cys) |
single nucleotide variant |
Mevalonic aciduria [RCV001969264] |
Chr12:109590814 [GRCh38]
Chr12:110028619 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.89C>T (p.Ala30Val) |
single nucleotide variant |
Mevalonic aciduria [RCV001893491] |
Chr12:109576008 [GRCh38]
Chr12:110013813 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.67G>A (p.Val23Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV002039328] |
Chr12:109574889 [GRCh38]
Chr12:110012694 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.632-3T>A |
single nucleotide variant |
Mevalonic aciduria [RCV002038476] |
Chr12:109586751 [GRCh38]
Chr12:110024556 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NC_000012.11:g.(?_110013783)_(110013970_?)del |
deletion |
Mevalonic aciduria [RCV001963312] |
Chr12:110013783..110013970 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.886-15A>T |
single nucleotide variant |
Mevalonic aciduria [RCV001963735] |
Chr12:109595013 [GRCh38]
Chr12:110032818 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000431.4(MVK):c.809C>A (p.Ala270Asp) |
single nucleotide variant |
Mevalonic aciduria [RCV002036425] |
Chr12:109591281 [GRCh38]
Chr12:110029086 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NC_000012.11:g.(?_110011228)_(110017709_?)del |
deletion |
Methylmalonic aciduria, cblB type [RCV001941877] |
Chr12:110011228..110017709 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.680C>T (p.Ser227Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV001906746] |
Chr12:109590773 [GRCh38]
Chr12:110028578 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.784G>T (p.Ala262Ser) |
single nucleotide variant |
Mevalonic aciduria [RCV001933541] |
Chr12:109591256 [GRCh38]
Chr12:110029061 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.371+8C>A |
single nucleotide variant |
Mevalonic aciduria [RCV001951726] |
Chr12:109579954 [GRCh38]
Chr12:110017759 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.865G>C (p.Glu289Gln) |
single nucleotide variant |
Mevalonic aciduria [RCV002026108] |
Chr12:109591337 [GRCh38]
Chr12:110029142 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.450G>A (p.Ser150=) |
single nucleotide variant |
Mevalonic aciduria [RCV002049855] |
Chr12:109581473 [GRCh38]
Chr12:110019278 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.418G>A (p.Gly140Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV002009944] |
Chr12:109581441 [GRCh38]
Chr12:110019246 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.592G>C (p.Gly198Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV002048224] |
Chr12:109586086 [GRCh38]
Chr12:110023891 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1078C>G (p.Leu360Val) |
single nucleotide variant |
Mevalonic aciduria [RCV001904164] |
Chr12:109596464 [GRCh38]
Chr12:110034269 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.197G>A (p.Arg66Lys) |
single nucleotide variant |
Mevalonic aciduria [RCV001952402]|not provided [RCV003156362] |
Chr12:109576116 [GRCh38]
Chr12:110013921 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.423G>A (p.Ala141=) |
single nucleotide variant |
Mevalonic aciduria [RCV001923843] |
Chr12:109581446 [GRCh38]
Chr12:110019251 [GRCh37]
Chr12:12q24.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000431.4(MVK):c.188A>T (p.Asp63Val) |
single nucleotide variant |
Mevalonic aciduria [RCV001961385] |
Chr12:109576107 [GRCh38]
Chr12:110013912 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.451G>T (p.Val151Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV002033236] |
Chr12:109581474 [GRCh38]
Chr12:110019279 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.288C>T (p.Gly96=) |
single nucleotide variant |
Mevalonic aciduria [RCV001931850] |
Chr12:109579863 [GRCh38]
Chr12:110017668 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.1134C>T (p.Ser378=) |
single nucleotide variant |
Mevalonic aciduria [RCV002185675] |
Chr12:109596520 [GRCh38]
Chr12:110034325 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.41G>A (p.Ser14Asn) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001314546] |
Chr12:109573440 [GRCh38]
Chr12:110011245 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.30T>C (p.Leu10=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001392093] |
Chr12:109573451 [GRCh38]
Chr12:110011256 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1110C>T (p.Thr370=) |
single nucleotide variant |
Mevalonic aciduria [RCV002145577] |
Chr12:109596496 [GRCh38]
Chr12:110034301 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.52C>T (p.Leu18=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001447016] |
Chr12:109573429 [GRCh38]
Chr12:110011234 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.35T>C (p.Leu12Pro) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001578623] |
Chr12:109573446 [GRCh38]
Chr12:110011251 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.57C>T (p.Arg19=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001274954] |
Chr12:109573424 [GRCh38]
Chr12:110011229 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.279G>A (p.Glu93=) |
single nucleotide variant |
Mevalonic aciduria [RCV002209996] |
Chr12:109579854 [GRCh38]
Chr12:110017659 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.371+12G>A |
single nucleotide variant |
Mevalonic aciduria [RCV002109239] |
Chr12:109579958 [GRCh38]
Chr12:110017763 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.66C>T (p.Phe22=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002084939] |
Chr12:109573415 [GRCh38]
Chr12:110011220 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) |
microsatellite |
Methylmalonic aciduria, cblB type [RCV000190395] |
Chr12:109573427..109573444 [GRCh38]
Chr12:110011232..110011249 [GRCh37]
Chr12:12q24.11 |
uncertain significance|not provided |
| NM_052845.4(MMAB):c.60G>A (p.Gly20=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002106434] |
Chr12:109573421 [GRCh38]
Chr12:110011226 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.57C>G (p.Arg19=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002111087] |
Chr12:109573424 [GRCh38]
Chr12:110011229 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.23del (p.Ser8fs) |
deletion |
Methylmalonic aciduria, cblB type [RCV001527443] |
Chr12:109573458 [GRCh38]
Chr12:110011263 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.677+18C>T |
single nucleotide variant |
Mevalonic aciduria [RCV002074913] |
Chr12:109586817 [GRCh38]
Chr12:110024622 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.107del (p.Gly36fs) |
deletion |
Methylmalonic aciduria, cblB type [RCV000673427] |
Chr12:109573374 [GRCh38]
Chr12:110011179 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.888G>A (p.Glu296=) |
single nucleotide variant |
Mevalonic aciduria [RCV002092830] |
Chr12:109595030 [GRCh38]
Chr12:110032835 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.371+14C>G |
single nucleotide variant |
Mevalonic aciduria [RCV002208610] |
Chr12:109579960 [GRCh38]
Chr12:110017765 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+12G>T |
single nucleotide variant |
Mevalonic aciduria [RCV002205761]|not specified [RCV004690241] |
Chr12:109586811 [GRCh38]
Chr12:110024616 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.44G>A (p.Arg15His) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001065308] |
Chr12:109573437 [GRCh38]
Chr12:110011242 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.27T>C (p.Arg9=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002541018] |
Chr12:109573454 [GRCh38]
Chr12:110011259 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.68G>A (p.Gly23Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002556226]|Methylmalonic aciduria, cblB type [RCV001113945]|not provided [RCV003480960] |
Chr12:109573413 [GRCh38]
Chr12:110011218 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.91C>T (p.Arg31Cys) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001456833] |
Chr12:109573390 [GRCh38]
Chr12:110011195 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_052845.4(MMAB):c.105C>T (p.Arg35=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001483570] |
Chr12:109573376 [GRCh38]
Chr12:110011181 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+12G>A |
single nucleotide variant |
Mevalonic aciduria [RCV002167778] |
Chr12:109586811 [GRCh38]
Chr12:110024616 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.79C>T (p.Leu27Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002518922]|Methylmalonic aciduria, cblB type [RCV002519149]|not provided [RCV000387095] |
Chr12:109573402 [GRCh38]
Chr12:110011207 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.61T>A (p.Cys21Ser) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002024925] |
Chr12:109573420 [GRCh38]
Chr12:110011225 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.861C>A (p.Ala287=) |
single nucleotide variant |
Mevalonic aciduria [RCV002170885] |
Chr12:109591333 [GRCh38]
Chr12:110029138 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.84G>A (p.Leu28=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001433899] |
Chr12:109573397 [GRCh38]
Chr12:110011202 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78+11G>A |
single nucleotide variant |
Mevalonic aciduria [RCV002086723] |
Chr12:109574911 [GRCh38]
Chr12:110012716 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.126C>T (p.Asp42=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002126087] |
Chr12:109573355 [GRCh38]
Chr12:110011160 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.603C>T (p.Ser201=) |
single nucleotide variant |
Mevalonic aciduria [RCV002094599] |
Chr12:109586097 [GRCh38]
Chr12:110023902 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.60G>T (p.Gly20=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001444106] |
Chr12:109573421 [GRCh38]
Chr12:110011226 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.162C>T (p.Pro54=) |
single nucleotide variant |
Mevalonic aciduria [RCV002133242] |
Chr12:109576081 [GRCh38]
Chr12:110013886 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.99G>A (p.Gln33=) |
single nucleotide variant |
MMAB-related disorder [RCV003895724]|Methylmalonic aciduria, cblB type [RCV001274953]|not provided [RCV003332273] |
Chr12:109573382 [GRCh38]
Chr12:110011187 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.226+7G>A |
single nucleotide variant |
Mevalonic aciduria [RCV002205733] |
Chr12:109576152 [GRCh38]
Chr12:110013957 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.108C>T (p.Gly36=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002214900] |
Chr12:109573373 [GRCh38]
Chr12:110011178 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001527444] |
Chr12:109573394 [GRCh38]
Chr12:110011199 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_052845.4(MMAB):c.116G>A (p.Gly39Asp) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001277395] |
Chr12:109573365 [GRCh38]
Chr12:110011170 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.615T>C (p.Asn205=) |
single nucleotide variant |
Mevalonic aciduria [RCV002093255] |
Chr12:109586109 [GRCh38]
Chr12:110023914 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.43C>T (p.Arg15Cys) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV001869021]|not provided [RCV000756342] |
Chr12:109573438 [GRCh38]
Chr12:110011243 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.417C>G (p.Pro139=) |
single nucleotide variant |
Mevalonic aciduria [RCV002116836] |
Chr12:109581440 [GRCh38]
Chr12:110019245 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) |
indel |
Methylmalonic aciduria, cblB type [RCV000408901]|not provided [RCV000589479] |
Chr12:109573424..109573425 [GRCh38]
Chr12:110011229..110011230 [GRCh37]
Chr12:12q24.11 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.632-12T>G |
single nucleotide variant |
Mevalonic aciduria [RCV002163360] |
Chr12:109586742 [GRCh38]
Chr12:110024547 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1188C>T (p.Leu396=) |
single nucleotide variant |
Mevalonic aciduria [RCV002200160] |
Chr12:109596574 [GRCh38]
Chr12:110034379 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.528-15C>T |
single nucleotide variant |
Mevalonic aciduria [RCV002102364] |
Chr12:109586007 [GRCh38]
Chr12:110023812 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.132C>T (p.His44=) |
single nucleotide variant |
Mevalonic aciduria [RCV002120052] |
Chr12:109576051 [GRCh38]
Chr12:110013856 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.678-16C>G |
single nucleotide variant |
Mevalonic aciduria [RCV002181778] |
Chr12:109590755 [GRCh38]
Chr12:110028560 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.441C>A (p.Ala147=) |
single nucleotide variant |
Mevalonic aciduria [RCV002160804] |
Chr12:109581464 [GRCh38]
Chr12:110019269 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.132C>T (p.Asp44=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002164195] |
Chr12:109573349 [GRCh38]
Chr12:110011154 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.886-19A>T |
single nucleotide variant |
Mevalonic aciduria [RCV002119104] |
Chr12:109595009 [GRCh38]
Chr12:110032814 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.438C>T (p.Ser146=) |
single nucleotide variant |
Mevalonic aciduria [RCV002140452] |
Chr12:109581461 [GRCh38]
Chr12:110019266 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1125C>T (p.Pro375=) |
single nucleotide variant |
Mevalonic aciduria [RCV002180737]|not specified [RCV005238213] |
Chr12:109596511 [GRCh38]
Chr12:110034316 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.528-17A>G |
single nucleotide variant |
Mevalonic aciduria [RCV002102116] |
Chr12:109586005 [GRCh38]
Chr12:110023810 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.54G>A (p.Leu18=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002139651] |
Chr12:109573427 [GRCh38]
Chr12:110011232 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.345A>G (p.Leu115=) |
single nucleotide variant |
Mevalonic aciduria [RCV002202306] |
Chr12:109579920 [GRCh38]
Chr12:110017725 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.371+20A>G |
single nucleotide variant |
Mevalonic aciduria [RCV002083708] |
Chr12:109579966 [GRCh38]
Chr12:110017771 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.52C>A (p.Leu18Met) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002122178] |
Chr12:109573429 [GRCh38]
Chr12:110011234 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NC_000012.11:g.(?_110032813)_(110034382_?)del |
deletion |
Mevalonic aciduria [RCV003111221] |
Chr12:110032813..110034382 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NC_000012.11:g.(?_109921357)_(110034382_?)dup |
duplication |
Mevalonic aciduria [RCV003111220] |
Chr12:109921357..110034382 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NC_000012.11:g.(?_110009444)_(110012715_?)del |
deletion |
Methylmalonic aciduria, cblB type [RCV003122977] |
Chr12:110009444..110012715 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.943C>G (p.Leu315Val) |
single nucleotide variant |
not provided [RCV003312099]|not specified [RCV003230910] |
Chr12:109595085 [GRCh38]
Chr12:110032890 [GRCh37]
Chr12:12q24.11 |
likely pathogenic|uncertain significance |
| NM_000431.4(MVK):c.210G>T (p.Leu70=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262073]|Mevalonic aciduria [RCV003774820] |
Chr12:109576129 [GRCh38]
Chr12:110013934 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.664T>A (p.Ser222Thr) |
single nucleotide variant |
not provided [RCV002261949] |
Chr12:109586786 [GRCh38]
Chr12:110024591 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.647A>T (p.Tyr216Phe) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262074] |
Chr12:109586769 [GRCh38]
Chr12:110024574 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.873C>A (p.Tyr291Ter) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262076] |
Chr12:109591345 [GRCh38]
Chr12:110029150 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.999C>T (p.Gly333=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262077]|Mevalonic aciduria [RCV003095940] |
Chr12:109595141 [GRCh38]
Chr12:110032946 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.1096G>T (p.Asp366Tyr) |
single nucleotide variant |
Mevalonic aciduria [RCV002296071] |
Chr12:109596482 [GRCh38]
Chr12:110034287 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.641T>A (p.Leu214His) |
single nucleotide variant |
Mevalonic aciduria [RCV002301773] |
Chr12:109586763 [GRCh38]
Chr12:110024568 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.86T>C (p.Leu29Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV002298121] |
Chr12:109576005 [GRCh38]
Chr12:110013810 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.528-3C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003013861] |
Chr12:109586019 [GRCh38]
Chr12:110023824 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.938C>T (p.Ala313Val) |
single nucleotide variant |
Mevalonic aciduria [RCV002861468] |
Chr12:109595080 [GRCh38]
Chr12:110032885 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.27T>C (p.Ser9=) |
single nucleotide variant |
Mevalonic aciduria [RCV002993818] |
Chr12:109574849 [GRCh38]
Chr12:110012654 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.79-11T>G |
single nucleotide variant |
Mevalonic aciduria [RCV002837542] |
Chr12:109575987 [GRCh38]
Chr12:110013792 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.632-13T>C |
single nucleotide variant |
Mevalonic aciduria [RCV002994059] |
Chr12:109586741 [GRCh38]
Chr12:110024546 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.102C>T (p.Ser34=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002775284] |
Chr12:109573379 [GRCh38]
Chr12:110011184 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.528-10_528-7del |
deletion |
Mevalonic aciduria [RCV002903458] |
Chr12:109586011..109586014 [GRCh38]
Chr12:110023816..110023819 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.289T>C (p.Leu97=) |
single nucleotide variant |
Mevalonic aciduria [RCV002686185] |
Chr12:109579864 [GRCh38]
Chr12:110017669 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.249del (p.Thr84fs) |
deletion |
not provided [RCV002462796] |
Chr12:109579822 [GRCh38]
Chr12:110017627 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.860C>G (p.Ala287Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002883322] |
Chr12:109591332 [GRCh38]
Chr12:110029137 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.27T>G (p.Arg9=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002774775] |
Chr12:109573454 [GRCh38]
Chr12:110011259 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.79-4A>G |
single nucleotide variant |
Mevalonic aciduria [RCV002730284] |
Chr12:109575994 [GRCh38]
Chr12:110013799 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1140C>T (p.His380=) |
single nucleotide variant |
Mevalonic aciduria [RCV002617300] |
Chr12:109596526 [GRCh38]
Chr12:110034331 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.6T>A (p.Ala2=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002819755] |
Chr12:109573475 [GRCh38]
Chr12:110011280 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.105G>C (p.Leu35Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002778805] |
Chr12:109576024 [GRCh38]
Chr12:110013829 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1142C>T (p.Ser381Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV003033642] |
Chr12:109596528 [GRCh38]
Chr12:110034333 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.632-11T>C |
single nucleotide variant |
Mevalonic aciduria [RCV002755745] |
Chr12:109586743 [GRCh38]
Chr12:110024548 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.678-16C>T |
single nucleotide variant |
Mevalonic aciduria [RCV002913048] |
Chr12:109590755 [GRCh38]
Chr12:110028560 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.458T>C (p.Leu153Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV003038295] |
Chr12:109581481 [GRCh38]
Chr12:110019286 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.671T>G (p.Leu224Ter) |
single nucleotide variant |
Mevalonic aciduria [RCV003020765] |
Chr12:109586793 [GRCh38]
Chr12:110024598 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.1090_1091del (p.Gly364fs) |
deletion |
Mevalonic aciduria [RCV002847968] |
Chr12:109596476..109596477 [GRCh38]
Chr12:110034281..110034282 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.998G>A (p.Gly333Asp) |
single nucleotide variant |
Mevalonic aciduria [RCV003020358] |
Chr12:109595140 [GRCh38]
Chr12:110032945 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1092C>T (p.Gly364=) |
single nucleotide variant |
Mevalonic aciduria [RCV002847969] |
Chr12:109596478 [GRCh38]
Chr12:110034283 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.768+14C>G |
single nucleotide variant |
Mevalonic aciduria [RCV003003209] |
Chr12:109590875 [GRCh38]
Chr12:110028680 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.973C>T (p.Arg325Cys) |
single nucleotide variant |
Mevalonic aciduria [RCV002800008] |
Chr12:109595115 [GRCh38]
Chr12:110032920 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.621C>T (p.Val207=) |
single nucleotide variant |
Mevalonic aciduria [RCV002623085] |
Chr12:109586115 [GRCh38]
Chr12:110023920 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1039+7dup |
duplication |
Mevalonic aciduria [RCV003021716] |
Chr12:109595185..109595186 [GRCh38]
Chr12:110032990..110032991 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.768+71C>A |
single nucleotide variant |
Mevalonic aciduria [RCV002509768] |
Chr12:109590932 [GRCh38]
Chr12:110028737 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.194C>G (p.Ala65Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002782116]|Mevalonic aciduria [RCV003777739] |
Chr12:109576113 [GRCh38]
Chr12:110013918 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.528-10G>T |
single nucleotide variant |
Mevalonic aciduria [RCV003038203] |
Chr12:109586012 [GRCh38]
Chr12:110023817 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.192G>A (p.Val64=) |
single nucleotide variant |
Mevalonic aciduria [RCV002736393] |
Chr12:109576111 [GRCh38]
Chr12:110013916 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.534C>A (p.Thr178=) |
single nucleotide variant |
Mevalonic aciduria [RCV003100333] |
Chr12:109586028 [GRCh38]
Chr12:110023833 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+1G>T |
single nucleotide variant |
Mevalonic aciduria [RCV002846993] |
Chr12:109586800 [GRCh38]
Chr12:110024605 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.769-14_769-12del |
microsatellite |
Mevalonic aciduria [RCV002979570] |
Chr12:109591224..109591226 [GRCh38]
Chr12:110029029..110029031 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.341A>G (p.Tyr114Cys) |
single nucleotide variant |
Mevalonic aciduria [RCV002976223] |
Chr12:109579916 [GRCh38]
Chr12:110017721 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.417C>T (p.Pro139=) |
single nucleotide variant |
Mevalonic aciduria [RCV002790380] |
Chr12:109581440 [GRCh38]
Chr12:110019245 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.134+2T>A |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002876177] |
Chr12:109573345 [GRCh38]
Chr12:110011150 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.1042C>T (p.Leu348=) |
single nucleotide variant |
Mevalonic aciduria [RCV002894631] |
Chr12:109596428 [GRCh38]
Chr12:110034233 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+5C>A |
single nucleotide variant |
Mevalonic aciduria [RCV002853171] |
Chr12:109586804 [GRCh38]
Chr12:110024609 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.134+10T>G |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002851134] |
Chr12:109573337 [GRCh38]
Chr12:110011142 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.18G>A (p.Leu6=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002745520] |
Chr12:109573463 [GRCh38]
Chr12:110011268 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.491T>A (p.Ile164Asn) |
single nucleotide variant |
Mevalonic aciduria [RCV002700578] |
Chr12:109581514 [GRCh38]
Chr12:110019319 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.78G>A (p.Arg26=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002957705] |
Chr12:109573403 [GRCh38]
Chr12:110011208 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.423G>C (p.Ala141=) |
single nucleotide variant |
Mevalonic aciduria [RCV003041523] |
Chr12:109581446 [GRCh38]
Chr12:110019251 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.632-2A>C |
single nucleotide variant |
Mevalonic aciduria [RCV002872701] |
Chr12:109586752 [GRCh38]
Chr12:110024557 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.307G>A (p.Val103Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002892922]|Mevalonic aciduria [RCV005002996] |
Chr12:109579882 [GRCh38]
Chr12:110017687 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.853G>A (p.Ala285Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002873573]|not provided [RCV005233111] |
Chr12:109591325 [GRCh38]
Chr12:110029130 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.111T>G (p.Pro37=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003005811] |
Chr12:109573370 [GRCh38]
Chr12:110011175 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1046A>C (p.Glu349Ala) |
single nucleotide variant |
Mevalonic aciduria [RCV002765962] |
Chr12:109596432 [GRCh38]
Chr12:110034237 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.78+18C>T |
single nucleotide variant |
Mevalonic aciduria [RCV002741406] |
Chr12:109574918 [GRCh38]
Chr12:110012723 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1045G>C (p.Glu349Gln) |
single nucleotide variant |
Mevalonic aciduria [RCV002745549] |
Chr12:109596431 [GRCh38]
Chr12:110034236 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.680C>G (p.Ser227Trp) |
single nucleotide variant |
Mevalonic aciduria [RCV002958840] |
Chr12:109590773 [GRCh38]
Chr12:110028578 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.528-14A>G |
single nucleotide variant |
Mevalonic aciduria [RCV003022807] |
Chr12:109586008 [GRCh38]
Chr12:110023813 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.42C>T (p.Ser14=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003022953] |
Chr12:109573439 [GRCh38]
Chr12:110011244 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.581G>T (p.Arg194Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV003059454] |
Chr12:109586075 [GRCh38]
Chr12:110023880 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1019G>C (p.Gly340Ala) |
single nucleotide variant |
Mevalonic aciduria [RCV002701518] |
Chr12:109595161 [GRCh38]
Chr12:110032966 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.549G>A (p.Glu183=) |
single nucleotide variant |
Mevalonic aciduria [RCV003022514] |
Chr12:109586043 [GRCh38]
Chr12:110023848 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.481_482del (p.Cys161fs) |
microsatellite |
Mevalonic aciduria [RCV003041169] |
Chr12:109581500..109581501 [GRCh38]
Chr12:110019305..110019306 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_052845.4(MMAB):c.108C>A (p.Gly36=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV002828557] |
Chr12:109573373 [GRCh38]
Chr12:110011178 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.203A>G (p.Gln68Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV002807162] |
Chr12:109576122 [GRCh38]
Chr12:110013927 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.893T>C (p.Ile298Thr) |
single nucleotide variant |
Mevalonic aciduria [RCV003062543] |
Chr12:109595035 [GRCh38]
Chr12:110032840 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.336T>C (p.Phe112=) |
single nucleotide variant |
Mevalonic aciduria [RCV003030357] |
Chr12:109579911 [GRCh38]
Chr12:110017716 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.172A>G (p.Ile58Val) |
single nucleotide variant |
Mevalonic aciduria [RCV002598515]|Retinal dystrophy [RCV003889239] |
Chr12:109576091 [GRCh38]
Chr12:110013896 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.194C>T (p.Ala65Val) |
single nucleotide variant |
Mevalonic aciduria [RCV002962388] |
Chr12:109576113 [GRCh38]
Chr12:110013918 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.709A>G (p.Thr237Ala) |
single nucleotide variant |
Mevalonic aciduria [RCV002899078] |
Chr12:109590802 [GRCh38]
Chr12:110028607 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.781G>A (p.Val261Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004948832]|Mevalonic aciduria [RCV002921873] |
Chr12:109591253 [GRCh38]
Chr12:110029058 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.227-17G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003026674] |
Chr12:109579785 [GRCh38]
Chr12:110017590 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1076C>A (p.Ala359Asp) |
single nucleotide variant |
Mevalonic aciduria [RCV003045009] |
Chr12:109596462 [GRCh38]
Chr12:110034267 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.479T>A (p.Val160Glu) |
single nucleotide variant |
Mevalonic aciduria [RCV003063800] |
Chr12:109581502 [GRCh38]
Chr12:110019307 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.17T>A (p.Leu6Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002717678] |
Chr12:109574839 [GRCh38]
Chr12:110012644 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.938C>A (p.Ala313Asp) |
single nucleotide variant |
Mevalonic aciduria [RCV003044611] |
Chr12:109595080 [GRCh38]
Chr12:110032885 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.500C>A (p.Pro167Gln) |
single nucleotide variant |
Mevalonic aciduria [RCV003008474] |
Chr12:109581523 [GRCh38]
Chr12:110019328 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.631+3A>T |
single nucleotide variant |
Mevalonic aciduria [RCV002605355] |
Chr12:109586128 [GRCh38]
Chr12:110023933 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.790dup (p.Leu264fs) |
duplication |
Mevalonic aciduria [RCV002633630] |
Chr12:109591256..109591257 [GRCh38]
Chr12:110029061..110029062 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.527+17C>G |
single nucleotide variant |
Mevalonic aciduria [RCV003052283] |
Chr12:109581567 [GRCh38]
Chr12:110019372 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.321G>C (p.Leu107=) |
single nucleotide variant |
Mevalonic aciduria [RCV003067176] |
Chr12:109579896 [GRCh38]
Chr12:110017701 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.345dup (p.Tyr116fs) |
duplication |
Mevalonic aciduria [RCV003051166] |
Chr12:109579919..109579920 [GRCh38]
Chr12:110017724..110017725 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.683C>T (p.Pro228Leu) |
single nucleotide variant |
not specified [RCV004699835] |
Chr12:109590776 [GRCh38]
Chr12:110028581 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1039+1G>C |
single nucleotide variant |
Mevalonic aciduria [RCV005011248]|not provided [RCV003143447] |
Chr12:109595182 [GRCh38]
Chr12:110032987 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.843G>C (p.Glu281Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003214473] |
Chr12:109591315 [GRCh38]
Chr12:110029120 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.533C>T (p.Thr178Ile) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV003225851] |
Chr12:109586027 [GRCh38]
Chr12:110023832 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.605G>A (p.Gly202Glu) |
single nucleotide variant |
not specified [RCV003324362] |
Chr12:109586099 [GRCh38]
Chr12:110023904 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.71A>G (p.His24Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV003338915] |
Chr12:109574893 [GRCh38]
Chr12:110012698 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.32del (p.Gly11fs) |
deletion |
Methylmalonic aciduria, cblB type [RCV003461863] |
Chr12:109573449 [GRCh38]
Chr12:110011254 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_052845.4(MMAB):c.112C>T (p.Gln38Ter) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003461862] |
Chr12:109573369 [GRCh38]
Chr12:110011174 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_052845.4(MMAB):c.63C>A (p.Cys21Ter) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003470143] |
Chr12:109573418 [GRCh38]
Chr12:110011223 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.875T>C (p.Leu292Pro) |
single nucleotide variant |
not provided [RCV003482083] |
Chr12:109591347 [GRCh38]
Chr12:110029152 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.560_561del (p.Lys187fs) |
deletion |
MVK-related disorder [RCV004534287]|Mevalonic aciduria [RCV005209620] |
Chr12:109586054..109586055 [GRCh38]
Chr12:110023859..110023860 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.227-660T>A |
single nucleotide variant |
not specified [RCV003391220] |
Chr12:109579142 [GRCh38]
Chr12:110016947 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.227-482T>C |
single nucleotide variant |
not specified [RCV003391207] |
Chr12:109579320 [GRCh38]
Chr12:110017125 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.312C>T (p.Thr104=) |
single nucleotide variant |
Mevalonic aciduria [RCV003778388]|not provided [RCV003391990] |
Chr12:109579887 [GRCh38]
Chr12:110017692 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.774A>C (p.Pro258=) |
single nucleotide variant |
not provided [RCV003391991] |
Chr12:109591246 [GRCh38]
Chr12:110029051 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.227-655T>A |
single nucleotide variant |
not specified [RCV003397048] |
Chr12:109579147 [GRCh38]
Chr12:110016952 [GRCh37]
Chr12:12q24.11 |
benign |
| NM_000431.4(MVK):c.52G>A (p.Gly18Arg) |
single nucleotide variant |
not provided [RCV003391989] |
Chr12:109574874 [GRCh38]
Chr12:110012679 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.1049A>C (p.Gln350Pro) |
single nucleotide variant |
MVK-related disorder [RCV004534357]|Mevalonic aciduria [RCV005228035] |
Chr12:109596435 [GRCh38]
Chr12:110034240 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.573A>G (p.Gln191=) |
single nucleotide variant |
Mevalonic aciduria [RCV003793596] |
Chr12:109586067 [GRCh38]
Chr12:110023872 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.230A>G (p.Gln77Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV003792332] |
Chr12:109579805 [GRCh38]
Chr12:110017610 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.976G>T (p.Gly326Ter) |
single nucleotide variant |
Mevalonic aciduria [RCV003804127] |
Chr12:109595118 [GRCh38]
Chr12:110032923 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.1143A>C (p.Ser381=) |
single nucleotide variant |
Mevalonic aciduria [RCV003797609] |
Chr12:109596529 [GRCh38]
Chr12:110034334 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.226+7G>T |
single nucleotide variant |
Mevalonic aciduria [RCV003797847] |
Chr12:109576152 [GRCh38]
Chr12:110013957 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.669C>T (p.Ser223=) |
single nucleotide variant |
Mevalonic aciduria [RCV003794924] |
Chr12:109586791 [GRCh38]
Chr12:110024596 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78+11G>T |
single nucleotide variant |
Mevalonic aciduria [RCV003783672] |
Chr12:109574911 [GRCh38]
Chr12:110012716 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.330G>A (p.Leu110=) |
single nucleotide variant |
Mevalonic aciduria [RCV003807615] |
Chr12:109579905 [GRCh38]
Chr12:110017710 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.63C>T (p.Ala21=) |
single nucleotide variant |
Mevalonic aciduria [RCV003784756] |
Chr12:109574885 [GRCh38]
Chr12:110012690 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1040-19C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003797454] |
Chr12:109596407 [GRCh38]
Chr12:110034212 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.84A>G (p.Ala28=) |
single nucleotide variant |
Mevalonic aciduria [RCV003782540] |
Chr12:109576003 [GRCh38]
Chr12:110013808 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.723C>T (p.Arg241=) |
single nucleotide variant |
Mevalonic aciduria [RCV003807721] |
Chr12:109590816 [GRCh38]
Chr12:110028621 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.134+7G>A |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003607763] |
Chr12:109573340 [GRCh38]
Chr12:110011145 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.678-4G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003795441] |
Chr12:109590767 [GRCh38]
Chr12:110028572 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.699G>A (p.Leu233=) |
single nucleotide variant |
Mevalonic aciduria [RCV003782751] |
Chr12:109590792 [GRCh38]
Chr12:110028597 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.789C>T (p.Pro263=) |
single nucleotide variant |
Mevalonic aciduria [RCV003787546] |
Chr12:109591261 [GRCh38]
Chr12:110029066 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.824G>A (p.Cys275Tyr) |
single nucleotide variant |
Mevalonic aciduria [RCV003796743] |
Chr12:109591296 [GRCh38]
Chr12:110029101 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.387G>A (p.Leu129=) |
single nucleotide variant |
Mevalonic aciduria [RCV003806099] |
Chr12:109581410 [GRCh38]
Chr12:110019215 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.134+16del |
deletion |
Methylmalonic aciduria, cblB type [RCV003608516] |
Chr12:109573331 [GRCh38]
Chr12:110011136 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.419G>T (p.Gly140Val) |
single nucleotide variant |
Mevalonic aciduria [RCV003808026] |
Chr12:109581442 [GRCh38]
Chr12:110019247 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.126A>G (p.Gln42=) |
single nucleotide variant |
Mevalonic aciduria [RCV003795981]|Retinal dystrophy [RCV003889337] |
Chr12:109576045 [GRCh38]
Chr12:110013850 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.705C>T (p.Thr235=) |
single nucleotide variant |
Mevalonic aciduria [RCV003807534] |
Chr12:109590798 [GRCh38]
Chr12:110028603 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.507G>A (p.Lys169=) |
single nucleotide variant |
Mevalonic aciduria [RCV003783938] |
Chr12:109581530 [GRCh38]
Chr12:110019335 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.738T>A (p.Leu246=) |
single nucleotide variant |
Mevalonic aciduria [RCV003782660] |
Chr12:109590831 [GRCh38]
Chr12:110028636 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.319C>T (p.Leu107=) |
single nucleotide variant |
Mevalonic aciduria [RCV003806569] |
Chr12:109579894 [GRCh38]
Chr12:110017699 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1071G>A (p.Lys357=) |
single nucleotide variant |
Mevalonic aciduria [RCV003792228] |
Chr12:109596457 [GRCh38]
Chr12:110034262 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.153C>T (p.Leu51=) |
single nucleotide variant |
Mevalonic aciduria [RCV003804911] |
Chr12:109576072 [GRCh38]
Chr12:110013877 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78+10C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003787585] |
Chr12:109574910 [GRCh38]
Chr12:110012715 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.426C>A (p.Gly142=) |
single nucleotide variant |
Mevalonic aciduria [RCV003785458] |
Chr12:109581449 [GRCh38]
Chr12:110019254 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1008T>C (p.Gly336=) |
single nucleotide variant |
Mevalonic aciduria [RCV003795201] |
Chr12:109595150 [GRCh38]
Chr12:110032955 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.207A>G (p.Ser69=) |
single nucleotide variant |
Mevalonic aciduria [RCV003805431] |
Chr12:109576126 [GRCh38]
Chr12:110013931 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.769-5T>C |
single nucleotide variant |
Mevalonic aciduria [RCV003791457] |
Chr12:109591236 [GRCh38]
Chr12:110029041 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.39G>T (p.Gly13=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003608482] |
Chr12:109573442 [GRCh38]
Chr12:110011247 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.384C>T (p.Ser128=) |
single nucleotide variant |
Mevalonic aciduria [RCV003788499]|Retinal dystrophy [RCV003889334] |
Chr12:109581407 [GRCh38]
Chr12:110019212 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1040-6_1040-5inv |
inversion |
Mevalonic aciduria [RCV003789922] |
Chr12:109596420..109596421 [GRCh38]
Chr12:110034225..110034226 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.168T>C (p.Ile56=) |
single nucleotide variant |
Mevalonic aciduria [RCV003806082] |
Chr12:109576087 [GRCh38]
Chr12:110013892 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.33C>T (p.Gly11=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003607995] |
Chr12:109573448 [GRCh38]
Chr12:110011253 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.769-18C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003791634] |
Chr12:109591223 [GRCh38]
Chr12:110029028 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+9G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003782307] |
Chr12:109586808 [GRCh38]
Chr12:110024613 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.372-12G>C |
single nucleotide variant |
Mevalonic aciduria [RCV003792637] |
Chr12:109581383 [GRCh38]
Chr12:110019188 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.372-15C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003788678] |
Chr12:109581380 [GRCh38]
Chr12:110019185 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+13T>G |
single nucleotide variant |
Mevalonic aciduria [RCV003794122] |
Chr12:109586812 [GRCh38]
Chr12:110024617 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.558C>T (p.Asn186=) |
single nucleotide variant |
Mevalonic aciduria [RCV003794763] |
Chr12:109586052 [GRCh38]
Chr12:110023857 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.769-10T>C |
single nucleotide variant |
Mevalonic aciduria [RCV003796593] |
Chr12:109591231 [GRCh38]
Chr12:110029036 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.769-7T>C |
single nucleotide variant |
Mevalonic aciduria [RCV003789465] |
Chr12:109591234 [GRCh38]
Chr12:110029039 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.670T>C (p.Leu224=) |
single nucleotide variant |
Mevalonic aciduria [RCV003780740]|not provided [RCV004546812] |
Chr12:109586792 [GRCh38]
Chr12:110024597 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.769-6dup |
duplication |
Mevalonic aciduria [RCV003792737] |
Chr12:109591234..109591235 [GRCh38]
Chr12:110029039..110029040 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.129C>A (p.Pro43=) |
single nucleotide variant |
Mevalonic aciduria [RCV003794806] |
Chr12:109576048 [GRCh38]
Chr12:110013853 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.227-20C>A |
single nucleotide variant |
Mevalonic aciduria [RCV003791944] |
Chr12:109579782 [GRCh38]
Chr12:110017587 [GRCh37]
Chr12:12q24.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000431.4(MVK):c.371+20_371+22del |
deletion |
Mevalonic aciduria [RCV003782538] |
Chr12:109579965..109579967 [GRCh38]
Chr12:110017770..110017772 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV003783599] |
Chr12:109574823 [GRCh38]
Chr12:110012628 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.371+19G>C |
single nucleotide variant |
Mevalonic aciduria [RCV003780638] |
Chr12:109579965 [GRCh38]
Chr12:110017770 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.717C>T (p.Val239=) |
single nucleotide variant |
Mevalonic aciduria [RCV003784702] |
Chr12:109590810 [GRCh38]
Chr12:110028615 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78+10C>A |
single nucleotide variant |
Mevalonic aciduria [RCV003780035] |
Chr12:109574910 [GRCh38]
Chr12:110012715 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.778A>T (p.Ile260Phe) |
single nucleotide variant |
Mevalonic aciduria [RCV003805740] |
Chr12:109591250 [GRCh38]
Chr12:110029055 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1098C>T (p.Asp366=) |
single nucleotide variant |
Mevalonic aciduria [RCV003805758] |
Chr12:109596484 [GRCh38]
Chr12:110034289 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78+19C>G |
single nucleotide variant |
Mevalonic aciduria [RCV003790908] |
Chr12:109574919 [GRCh38]
Chr12:110012724 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1101C>T (p.Cys367=) |
single nucleotide variant |
Mevalonic aciduria [RCV003782685] |
Chr12:109596487 [GRCh38]
Chr12:110034292 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1040-15C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003790708] |
Chr12:109596411 [GRCh38]
Chr12:110034216 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1029C>T (p.Leu343=) |
single nucleotide variant |
Mevalonic aciduria [RCV003793025] |
Chr12:109595171 [GRCh38]
Chr12:110032976 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1066A>G (p.Thr356Ala) |
single nucleotide variant |
Mevalonic aciduria [RCV003794685] |
Chr12:109596452 [GRCh38]
Chr12:110034257 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.316C>T (p.Arg106Cys) |
single nucleotide variant |
Mevalonic aciduria [RCV003788838] |
Chr12:109579891 [GRCh38]
Chr12:110017696 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.9A>G (p.Ser3=) |
single nucleotide variant |
Mevalonic aciduria [RCV003786521] |
Chr12:109574831 [GRCh38]
Chr12:110012636 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.924C>A (p.Leu308=) |
single nucleotide variant |
Mevalonic aciduria [RCV003785419] |
Chr12:109595066 [GRCh38]
Chr12:110032871 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.885+15G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003806378] |
Chr12:109591372 [GRCh38]
Chr12:110029177 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.886-19A>G |
single nucleotide variant |
Mevalonic aciduria [RCV003793403] |
Chr12:109595009 [GRCh38]
Chr12:110032814 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.762G>A (p.Leu254=) |
single nucleotide variant |
Mevalonic aciduria [RCV003784016] |
Chr12:109590855 [GRCh38]
Chr12:110028660 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.134+20G>A |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003607694] |
Chr12:109573327 [GRCh38]
Chr12:110011132 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1078C>T (p.Leu360=) |
single nucleotide variant |
Mevalonic aciduria [RCV003806787] |
Chr12:109596464 [GRCh38]
Chr12:110034269 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.71A>C (p.His24Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV003781787] |
Chr12:109574893 [GRCh38]
Chr12:110012698 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.372-16C>A |
single nucleotide variant |
Mevalonic aciduria [RCV003805131] |
Chr12:109581379 [GRCh38]
Chr12:110019184 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.207_208del (p.Leu70fs) |
deletion |
Mevalonic aciduria [RCV003796932] |
Chr12:109576125..109576126 [GRCh38]
Chr12:110013930..110013931 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter) |
indel |
Methylmalonic aciduria, cblB type [RCV003608641] |
Chr12:109573424..109573426 [GRCh38]
Chr12:110011229..110011231 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_052845.4(MMAB):c.134+14G>A |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003607166] |
Chr12:109573333 [GRCh38]
Chr12:110011138 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.395del (p.Val132fs) |
deletion |
Mevalonic aciduria [RCV003783601] |
Chr12:109581418 [GRCh38]
Chr12:110019223 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.651T>C (p.His217=) |
single nucleotide variant |
Mevalonic aciduria [RCV003779477] |
Chr12:109586773 [GRCh38]
Chr12:110024578 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.527+20G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003794228] |
Chr12:109581570 [GRCh38]
Chr12:110019375 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.621_630del (p.Ser208fs) |
deletion |
Mevalonic aciduria [RCV003782884] |
Chr12:109586115..109586124 [GRCh38]
Chr12:110023920..110023929 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.632-6C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003787217] |
Chr12:109586748 [GRCh38]
Chr12:110024553 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.417del (p.Ala141fs) |
deletion |
Mevalonic aciduria [RCV003782450] |
Chr12:109581435 [GRCh38]
Chr12:110019240 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.135C>T (p.Ser45=) |
single nucleotide variant |
Mevalonic aciduria [RCV003790853] |
Chr12:109576054 [GRCh38]
Chr12:110013859 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1113C>T (p.Ser371=) |
single nucleotide variant |
Mevalonic aciduria [RCV003791036] |
Chr12:109596499 [GRCh38]
Chr12:110034304 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+11G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003793822] |
Chr12:109586810 [GRCh38]
Chr12:110024615 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.372-14C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003780886] |
Chr12:109581381 [GRCh38]
Chr12:110019186 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.450G>T (p.Ser150=) |
single nucleotide variant |
Mevalonic aciduria [RCV003792360] |
Chr12:109581473 [GRCh38]
Chr12:110019278 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.527+17C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003790063] |
Chr12:109581567 [GRCh38]
Chr12:110019372 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1135A>G (p.Ile379Val) |
single nucleotide variant |
Mevalonic aciduria [RCV003792962] |
Chr12:109596521 [GRCh38]
Chr12:110034326 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.147G>A (p.Val49=) |
single nucleotide variant |
Mevalonic aciduria [RCV003787848] |
Chr12:109576066 [GRCh38]
Chr12:110013871 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.527+7A>G |
single nucleotide variant |
Mevalonic aciduria [RCV003790669] |
Chr12:109581557 [GRCh38]
Chr12:110019362 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.300C>T (p.Asp100=) |
single nucleotide variant |
MVK-related disorder [RCV004539128]|Mevalonic aciduria [RCV003781478] |
Chr12:109579875 [GRCh38]
Chr12:110017680 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.226+17G>C |
single nucleotide variant |
Mevalonic aciduria [RCV003790295] |
Chr12:109576162 [GRCh38]
Chr12:110013967 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1143A>T (p.Ser381=) |
single nucleotide variant |
Mevalonic aciduria [RCV003790327] |
Chr12:109596529 [GRCh38]
Chr12:110034334 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1137C>T (p.Ile379=) |
single nucleotide variant |
Mevalonic aciduria [RCV003790571] |
Chr12:109596523 [GRCh38]
Chr12:110034328 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1102T>C (p.Leu368=) |
single nucleotide variant |
Mevalonic aciduria [RCV003782305] |
Chr12:109596488 [GRCh38]
Chr12:110034293 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.79-16G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003782329] |
Chr12:109575982 [GRCh38]
Chr12:110013787 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.252C>A (p.Thr84=) |
single nucleotide variant |
Mevalonic aciduria [RCV003782805] |
Chr12:109579827 [GRCh38]
Chr12:110017632 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.372-18C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003790379] |
Chr12:109581377 [GRCh38]
Chr12:110019182 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.886-12C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003790749] |
Chr12:109595016 [GRCh38]
Chr12:110032821 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.457C>T (p.Leu153=) |
single nucleotide variant |
Mevalonic aciduria [RCV003808941] |
Chr12:109581480 [GRCh38]
Chr12:110019285 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1176C>A (p.Ala392=) |
single nucleotide variant |
Mevalonic aciduria [RCV003810056] |
Chr12:109596562 [GRCh38]
Chr12:110034367 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.435C>T (p.Ser145=) |
single nucleotide variant |
Mevalonic aciduria [RCV003799973] |
Chr12:109581458 [GRCh38]
Chr12:110019263 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.577G>A (p.Glu193Lys) |
single nucleotide variant |
Mevalonic aciduria [RCV003801070] |
Chr12:109586071 [GRCh38]
Chr12:110023876 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.513G>A (p.Gly171=) |
single nucleotide variant |
Mevalonic aciduria [RCV003800187] |
Chr12:109581536 [GRCh38]
Chr12:110019341 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.378G>A (p.Leu126=) |
single nucleotide variant |
Mevalonic aciduria [RCV003800215] |
Chr12:109581401 [GRCh38]
Chr12:110019206 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.769-5T>A |
single nucleotide variant |
Mevalonic aciduria [RCV003800260] |
Chr12:109591236 [GRCh38]
Chr12:110029041 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.807T>C (p.Asp269=) |
single nucleotide variant |
Mevalonic aciduria [RCV003800319] |
Chr12:109591279 [GRCh38]
Chr12:110029084 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.632-9T>C |
single nucleotide variant |
Mevalonic aciduria [RCV003800393] |
Chr12:109586745 [GRCh38]
Chr12:110024550 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1039+8G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003810610] |
Chr12:109595189 [GRCh38]
Chr12:110032994 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1063del (p.Ala355fs) |
deletion |
Mevalonic aciduria [RCV003810626] |
Chr12:109596448 [GRCh38]
Chr12:110034253 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.805G>A (p.Asp269Asn) |
single nucleotide variant |
Mevalonic aciduria [RCV003798287] |
Chr12:109591277 [GRCh38]
Chr12:110029082 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1062G>A (p.Glu354=) |
single nucleotide variant |
Mevalonic aciduria [RCV003812919] |
Chr12:109596448 [GRCh38]
Chr12:110034253 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.453G>T (p.Val151=) |
single nucleotide variant |
Mevalonic aciduria [RCV003800664] |
Chr12:109581476 [GRCh38]
Chr12:110019281 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.672A>G (p.Leu224=) |
single nucleotide variant |
Mevalonic aciduria [RCV003798581] |
Chr12:109586794 [GRCh38]
Chr12:110024599 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.659A>C (p.Lys220Thr) |
single nucleotide variant |
Mevalonic aciduria [RCV003813211] |
Chr12:109586781 [GRCh38]
Chr12:110024586 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.661_668dup (p.Leu224fs) |
duplication |
Mevalonic aciduria [RCV003808628] |
Chr12:109586782..109586783 [GRCh38]
Chr12:110024587..110024588 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.886-7C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003799954] |
Chr12:109595021 [GRCh38]
Chr12:110032826 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.666A>G (p.Ser222=) |
single nucleotide variant |
Mevalonic aciduria [RCV003801132] |
Chr12:109586788 [GRCh38]
Chr12:110024593 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.629G>A (p.Trp210Ter) |
single nucleotide variant |
Mevalonic aciduria [RCV003815273] |
Chr12:109586123 [GRCh38]
Chr12:110023928 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.386_422del (p.Leu129fs) |
deletion |
Mevalonic aciduria [RCV003818135] |
Chr12:109581408..109581444 [GRCh38]
Chr12:110019213..110019249 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.1072C>T (p.Gln358Ter) |
single nucleotide variant |
Mevalonic aciduria [RCV003815725] |
Chr12:109596458 [GRCh38]
Chr12:110034263 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.42C>T (p.Val14=) |
single nucleotide variant |
Mevalonic aciduria [RCV003800637] |
Chr12:109574864 [GRCh38]
Chr12:110012669 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1149C>T (p.Thr383=) |
single nucleotide variant |
Mevalonic aciduria [RCV003818027] |
Chr12:109596535 [GRCh38]
Chr12:110034340 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+15G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003797982] |
Chr12:109586814 [GRCh38]
Chr12:110024619 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.783G>A (p.Val261=) |
single nucleotide variant |
Mevalonic aciduria [RCV003801910] |
Chr12:109591255 [GRCh38]
Chr12:110029060 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.690C>G (p.Leu230=) |
single nucleotide variant |
Mevalonic aciduria [RCV003798665]|Retinal dystrophy [RCV003889338] |
Chr12:109590783 [GRCh38]
Chr12:110028588 [GRCh37]
Chr12:12q24.11 |
likely benign|uncertain significance |
| NM_000431.4(MVK):c.372-16C>G |
single nucleotide variant |
Mevalonic aciduria [RCV003812602] |
Chr12:109581379 [GRCh38]
Chr12:110019184 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.631+16G>A |
single nucleotide variant |
Mevalonic aciduria [RCV003818075] |
Chr12:109586141 [GRCh38]
Chr12:110023946 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.24C>T (p.Ser8=) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003501008] |
Chr12:109573457 [GRCh38]
Chr12:110011262 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.318C>G (p.Arg106=) |
single nucleotide variant |
Mevalonic aciduria [RCV003799296] |
Chr12:109579893 [GRCh38]
Chr12:110017698 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.342C>T (p.Tyr114=) |
single nucleotide variant |
Mevalonic aciduria [RCV003798757] |
Chr12:109579917 [GRCh38]
Chr12:110017722 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.712A>T (p.Lys238Ter) |
single nucleotide variant |
Mevalonic aciduria [RCV003801959] |
Chr12:109590805 [GRCh38]
Chr12:110028610 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.15C>T (p.Val5=) |
single nucleotide variant |
Mevalonic aciduria [RCV003813343] |
Chr12:109574837 [GRCh38]
Chr12:110012642 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.459G>A (p.Leu153=) |
single nucleotide variant |
Mevalonic aciduria [RCV003801557] |
Chr12:109581482 [GRCh38]
Chr12:110019287 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.125A>C (p.Gln42Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV003801680] |
Chr12:109576044 [GRCh38]
Chr12:110013849 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.677+8G>T |
single nucleotide variant |
Mevalonic aciduria [RCV003809528] |
Chr12:109586807 [GRCh38]
Chr12:110024612 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.226+9A>G |
single nucleotide variant |
Mevalonic aciduria [RCV003800533] |
Chr12:109576154 [GRCh38]
Chr12:110013959 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.678-15_678-13del |
microsatellite |
Mevalonic aciduria [RCV003798353] |
Chr12:109590752..109590754 [GRCh38]
Chr12:110028557..110028559 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.768+18C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003809622] |
Chr12:109590879 [GRCh38]
Chr12:110028684 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.24G>A (p.Val8=) |
single nucleotide variant |
Mevalonic aciduria [RCV003815206] |
Chr12:109574846 [GRCh38]
Chr12:110012651 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1122C>T (p.Ala374=) |
single nucleotide variant |
Mevalonic aciduria [RCV003815702] |
Chr12:109596508 [GRCh38]
Chr12:110034313 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1167C>T (p.Val389=) |
single nucleotide variant |
Mevalonic aciduria [RCV003815710] |
Chr12:109596553 [GRCh38]
Chr12:110034358 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.179G>A (p.Arg60Gln) |
single nucleotide variant |
Mevalonic aciduria [RCV003809920] |
Chr12:109576098 [GRCh38]
Chr12:110013903 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.227-15T>C |
single nucleotide variant |
Mevalonic aciduria [RCV003815756] |
Chr12:109579787 [GRCh38]
Chr12:110017592 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78+20T>G |
single nucleotide variant |
Mevalonic aciduria [RCV003817759] |
Chr12:109574920 [GRCh38]
Chr12:110012725 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.477T>A (p.Thr159=) |
single nucleotide variant |
Mevalonic aciduria [RCV003813649] |
Chr12:109581500 [GRCh38]
Chr12:110019305 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.264G>C (p.Val88=) |
single nucleotide variant |
Mevalonic aciduria [RCV003801136] |
Chr12:109579839 [GRCh38]
Chr12:110017644 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.2T>A (p.Met1Lys) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003500093] |
Chr12:109573479 [GRCh38]
Chr12:110011284 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_052845.4(MMAB):c.134+1G>T |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003501379] |
Chr12:109573346 [GRCh38]
Chr12:110011151 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.664del (p.Ser222fs) |
deletion |
Mevalonic aciduria [RCV003809196] |
Chr12:109586784 [GRCh38]
Chr12:110024589 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.1068G>A (p.Thr356=) |
single nucleotide variant |
Mevalonic aciduria [RCV003798510] |
Chr12:109596454 [GRCh38]
Chr12:110034259 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.677+9G>T |
single nucleotide variant |
Mevalonic aciduria [RCV003815675] |
Chr12:109586808 [GRCh38]
Chr12:110024613 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.116del (p.Gly39fs) |
deletion |
Methylmalonic aciduria, cblB type [RCV003501935] |
Chr12:109573365 [GRCh38]
Chr12:110011170 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.886-22_886-20del |
deletion |
Mevalonic aciduria [RCV003813520] |
Chr12:109595006..109595008 [GRCh38]
Chr12:110032811..110032813 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.96C>T (p.Ser32=) |
single nucleotide variant |
Mevalonic aciduria [RCV003813582] |
Chr12:109576015 [GRCh38]
Chr12:110013820 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1027C>T (p.Leu343Phe) |
single nucleotide variant |
Mevalonic aciduria [RCV003802310] |
Chr12:109595169 [GRCh38]
Chr12:110032974 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.366G>A (p.Lys122=) |
single nucleotide variant |
Mevalonic aciduria [RCV003803508] |
Chr12:109579941 [GRCh38]
Chr12:110017746 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.78+20T>C |
single nucleotide variant |
Mevalonic aciduria [RCV003803667] |
Chr12:109574920 [GRCh38]
Chr12:110012725 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.951G>A (p.Gln317=) |
single nucleotide variant |
Mevalonic aciduria [RCV003802473] |
Chr12:109595093 [GRCh38]
Chr12:110032898 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1161C>T (p.Ser387=) |
single nucleotide variant |
Mevalonic aciduria [RCV003803761] |
Chr12:109596547 [GRCh38]
Chr12:110034352 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.632-8C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003803303] |
Chr12:109586746 [GRCh38]
Chr12:110024551 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1014C>G (p.Gly338=) |
single nucleotide variant |
Mevalonic aciduria [RCV003803045] |
Chr12:109595156 [GRCh38]
Chr12:110032961 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.632-18A>T |
single nucleotide variant |
Mevalonic aciduria [RCV003802145] |
Chr12:109586736 [GRCh38]
Chr12:110024541 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.790C>G (p.Leu264Val) |
single nucleotide variant |
Mevalonic aciduria [RCV003803441] |
Chr12:109591262 [GRCh38]
Chr12:110029067 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.371+20A>T |
single nucleotide variant |
Mevalonic aciduria [RCV003803901] |
Chr12:109579966 [GRCh38]
Chr12:110017771 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.885+8C>T |
single nucleotide variant |
Mevalonic aciduria [RCV003803191] |
Chr12:109591365 [GRCh38]
Chr12:110029170 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.1124C>T (p.Pro375Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV003802168] |
Chr12:109596510 [GRCh38]
Chr12:110034315 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1170G>A (p.Gln390=) |
single nucleotide variant |
MVK-related disorder [RCV004544102] |
Chr12:109596556 [GRCh38]
Chr12:110034361 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.734C>T (p.Ala245Val) |
single nucleotide variant |
Retinal dystrophy [RCV003889644] |
Chr12:109590827 [GRCh38]
Chr12:110028632 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.769-19T>G |
single nucleotide variant |
MVK-related disorder [RCV004534649] |
Chr12:109591222 [GRCh38]
Chr12:110029027 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.535A>G (p.Lys179Glu) |
single nucleotide variant |
Retinal dystrophy [RCV003889643] |
Chr12:109586029 [GRCh38]
Chr12:110023834 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.235G>T (p.Asp79Tyr) |
single nucleotide variant |
Retinal dystrophy [RCV003889642] |
Chr12:109579810 [GRCh38]
Chr12:110017615 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NC_000012.11:g.(?_110028556)_(110029182_?)del |
deletion |
Mevalonic aciduria [RCV004578447] |
Chr12:110028556..110029182 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.368A>G (p.Gln123Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004645626] |
Chr12:109579943 [GRCh38]
Chr12:110017748 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.372-8_381dup |
duplication |
not provided [RCV004811355] |
Chr12:109581385..109581386 [GRCh38]
Chr12:110019190..110019191 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.431G>T (p.Gly144Val) |
single nucleotide variant |
not specified [RCV004766716] |
Chr12:109581454 [GRCh38]
Chr12:110019259 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.845T>C (p.Met282Thr) |
single nucleotide variant |
not specified [RCV004699777] |
Chr12:109591317 [GRCh38]
Chr12:110029122 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.37_57delinsCAA (p.Gly13_Arg19delinsGln) |
indel |
Methylmalonic aciduria, cblB type [RCV005004799] |
Chr12:109573424..109573444 [GRCh38]
Chr12:110011229..110011249 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1133C>G (p.Ser378Cys) |
single nucleotide variant |
Mevalonic aciduria [RCV005004814] |
Chr12:109596519 [GRCh38]
Chr12:110034324 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.227-9G>A |
single nucleotide variant |
Mevalonic aciduria [RCV005006791] |
Chr12:109579793 [GRCh38]
Chr12:110017598 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.372-8T>C |
single nucleotide variant |
Mevalonic aciduria [RCV005006794] |
Chr12:109581387 [GRCh38]
Chr12:110019192 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.665C>A (p.Ser222Ter) |
single nucleotide variant |
Mevalonic aciduria [RCV005006796] |
Chr12:109586787 [GRCh38]
Chr12:110024592 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.885+2dup |
duplication |
Mevalonic aciduria [RCV005006798] |
Chr12:109591358..109591359 [GRCh38]
Chr12:110029163..110029164 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.226+1del |
deletion |
Mevalonic aciduria [RCV005006790] |
Chr12:109576144 [GRCh38]
Chr12:110013949 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_052845.4(MMAB):c.56_60delinsAAGGT (p.Arg19Gln) |
indel |
Methylmalonic aciduria, cblB type [RCV005006785] |
Chr12:109573421..109573425 [GRCh38]
Chr12:110011226..110011230 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.78+1G>T |
single nucleotide variant |
Mevalonic aciduria [RCV005006787] |
Chr12:109574901 [GRCh38]
Chr12:110012706 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.115C>T (p.Leu39Phe) |
single nucleotide variant |
Mevalonic aciduria [RCV005006789] |
Chr12:109576034 [GRCh38]
Chr12:110013839 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.247C>T (p.Pro83Ser) |
single nucleotide variant |
Mevalonic aciduria [RCV005006792] |
Chr12:109579822 [GRCh38]
Chr12:110017627 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.388G>A (p.Asp130Asn) |
single nucleotide variant |
Mevalonic aciduria [RCV005006795] |
Chr12:109581411 [GRCh38]
Chr12:110019216 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.790del (p.Leu264fs) |
deletion |
Mevalonic aciduria [RCV005006797] |
Chr12:109591257 [GRCh38]
Chr12:110029062 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.291G>T (p.Leu97Phe) |
single nucleotide variant |
Mevalonic aciduria [RCV005004803] |
Chr12:109579866 [GRCh38]
Chr12:110017671 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.82G>T (p.Ala28Ser) |
single nucleotide variant |
Deficiency of mevalonate kinase [RCV005002064] |
Chr12:109576001 [GRCh38]
Chr12:110013806 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.877G>T (p.Val293Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV005004812] |
Chr12:109591349 [GRCh38]
Chr12:110029154 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.134G>A (p.Arg45Lys) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV005004798] |
Chr12:109573347 [GRCh38]
Chr12:110011152 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.250del (p.Thr84fs) |
deletion |
Mevalonic aciduria [RCV005004802] |
Chr12:109579825 [GRCh38]
Chr12:110017630 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.631+4G>A |
single nucleotide variant |
Mevalonic aciduria [RCV005004807] |
Chr12:109586129 [GRCh38]
Chr12:110023934 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.337del (p.Leu113fs) |
deletion |
Mevalonic aciduria [RCV005004804] |
Chr12:109579912 [GRCh38]
Chr12:110017717 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.706A>G (p.Asn236Asp) |
single nucleotide variant |
Mevalonic aciduria [RCV005004810] |
Chr12:109590799 [GRCh38]
Chr12:110028604 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.848G>C (p.Gly283Ala) |
single nucleotide variant |
Mevalonic aciduria [RCV005004811] |
Chr12:109591320 [GRCh38]
Chr12:110029125 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.677+1G>A |
single nucleotide variant |
Mevalonic aciduria [RCV005004809] |
Chr12:109586800 [GRCh38]
Chr12:110024605 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.6G>C (p.Leu2Phe) |
single nucleotide variant |
Mevalonic aciduria [RCV005213699] |
Chr12:109574828 [GRCh38]
Chr12:110012633 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.748G>T (p.Val250Phe) |
single nucleotide variant |
Mevalonic aciduria [RCV005214968] |
Chr12:109590841 [GRCh38]
Chr12:110028646 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.16C>G (p.Leu6Val) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV005060618] |
Chr12:109573465 [GRCh38]
Chr12:110011270 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.417C>A (p.Pro139=) |
single nucleotide variant |
Mevalonic aciduria [RCV005214549] |
Chr12:109581440 [GRCh38]
Chr12:110019245 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.631+14C>T |
single nucleotide variant |
Mevalonic aciduria [RCV005215039] |
Chr12:109586139 [GRCh38]
Chr12:110023944 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.528-7T>C |
single nucleotide variant |
Mevalonic aciduria [RCV005215089] |
Chr12:109586015 [GRCh38]
Chr12:110023820 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.632-14G>A |
single nucleotide variant |
Mevalonic aciduria [RCV005211247] |
Chr12:109586740 [GRCh38]
Chr12:110024545 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.832G>C (p.Val278Leu) |
single nucleotide variant |
Mevalonic aciduria [RCV005211254] |
Chr12:109591304 [GRCh38]
Chr12:110029109 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1190G>A (p.Ter397=) |
single nucleotide variant |
Mevalonic aciduria [RCV005209748] |
Chr12:109596576 [GRCh38]
Chr12:110034381 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.846G>A (p.Met282Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV005211111] |
Chr12:109591318 [GRCh38]
Chr12:110029123 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.686C>T (p.Ala229Val) |
single nucleotide variant |
Mevalonic aciduria [RCV005211324] |
Chr12:109590779 [GRCh38]
Chr12:110028584 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.240C>T (p.Val80=) |
single nucleotide variant |
Mevalonic aciduria [RCV005209976] |
Chr12:109579815 [GRCh38]
Chr12:110017620 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.600C>T (p.Pro200=) |
single nucleotide variant |
Mevalonic aciduria [RCV005225722] |
Chr12:109586094 [GRCh38]
Chr12:110023899 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.90T>C (p.Ala30=) |
single nucleotide variant |
Mevalonic aciduria [RCV005210772] |
Chr12:109576009 [GRCh38]
Chr12:110013814 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.835C>T (p.Leu279=) |
single nucleotide variant |
Mevalonic aciduria [RCV005210860] |
Chr12:109591307 [GRCh38]
Chr12:110029112 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.621C>A (p.Val207=) |
single nucleotide variant |
Mevalonic aciduria [RCV005227150] |
Chr12:109586115 [GRCh38]
Chr12:110023920 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.415C>G (p.Pro139Ala) |
single nucleotide variant |
Mevalonic aciduria [RCV005211343] |
Chr12:109581438 [GRCh38]
Chr12:110019243 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.372G>A (p.Arg124=) |
single nucleotide variant |
Mevalonic aciduria [RCV005213765] |
Chr12:109581395 [GRCh38]
Chr12:110019200 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.768+1G>T |
single nucleotide variant |
Mevalonic aciduria [RCV005213871] |
Chr12:109590862 [GRCh38]
Chr12:110028667 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_000431.4(MVK):c.1088G>A (p.Cys363Tyr) |
single nucleotide variant |
Mevalonic aciduria [RCV005211093] |
Chr12:109596474 [GRCh38]
Chr12:110034279 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.887A>G (p.Glu296Gly) |
single nucleotide variant |
not specified [RCV005237325] |
Chr12:109595029 [GRCh38]
Chr12:110032834 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.626C>T (p.Thr209Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV005218011] |
Chr12:109586120 [GRCh38]
Chr12:110023925 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.527+11T>A |
single nucleotide variant |
Mevalonic aciduria [RCV005216436] |
Chr12:109581561 [GRCh38]
Chr12:110019366 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.952C>A (p.Leu318Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV005220293] |
Chr12:109595094 [GRCh38]
Chr12:110032899 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.870G>A (p.Gln290=) |
single nucleotide variant |
Mevalonic aciduria [RCV005219176] |
Chr12:109591342 [GRCh38]
Chr12:110029147 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.134_135delinsAA (p.Ser45Lys) |
indel |
Mevalonic aciduria [RCV005218444] |
Chr12:109576053..109576054 [GRCh38]
Chr12:110013858..110013859 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.381_385del (p.Ser128fs) |
deletion |
Mevalonic aciduria [RCV005219657] |
Chr12:109581401..109581405 [GRCh38]
Chr12:110019206..110019210 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV005221261] |
Chr12:109574825 [GRCh38]
Chr12:110012630 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_052845.4(MMAB):c.134+16G>A |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV005151661] |
Chr12:109573331 [GRCh38]
Chr12:110011136 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.678G>A (p.Arg226=) |
single nucleotide variant |
Mevalonic aciduria [RCV005224912] |
Chr12:109590771 [GRCh38]
Chr12:110028576 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.635G>A (p.Gly212Glu) |
single nucleotide variant |
not specified [RCV005240047] |
Chr12:109586757 [GRCh38]
Chr12:110024562 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.973C>G (p.Arg325Gly) |
single nucleotide variant |
not provided [RCV005234507] |
Chr12:109595115 [GRCh38]
Chr12:110032920 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1046A>T (p.Glu349Val) |
single nucleotide variant |
not provided [RCV005234632] |
Chr12:109596432 [GRCh38]
Chr12:110034237 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.898A>G (p.Met300Val) |
single nucleotide variant |
Mevalonic aciduria [RCV005219415] |
Chr12:109595040 [GRCh38]
Chr12:110032845 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.274A>C (p.Lys92Gln) |
single nucleotide variant |
Mevalonic aciduria [RCV005220194] |
Chr12:109579849 [GRCh38]
Chr12:110017654 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.227-10T>G |
single nucleotide variant |
Mevalonic aciduria [RCV005217961] |
Chr12:109579792 [GRCh38]
Chr12:110017597 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.901A>C (p.Asn301His) |
single nucleotide variant |
Mevalonic aciduria [RCV005222648] |
Chr12:109595043 [GRCh38]
Chr12:110032848 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.795G>A (p.Leu265=) |
single nucleotide variant |
Mevalonic aciduria [RCV005223808] |
Chr12:109591267 [GRCh38]
Chr12:110029072 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.398T>G (p.Val133Gly) |
single nucleotide variant |
Mevalonic aciduria [RCV005216707] |
Chr12:109581421 [GRCh38]
Chr12:110019226 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.280G>A (p.Val94Ile) |
single nucleotide variant |
Mevalonic aciduria [RCV005216981] |
Chr12:109579855 [GRCh38]
Chr12:110017660 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1075G>C (p.Ala359Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV005217164] |
Chr12:109596461 [GRCh38]
Chr12:110034266 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1039+12G>A |
single nucleotide variant |
Mevalonic aciduria [RCV005224469] |
Chr12:109595193 [GRCh38]
Chr12:110032998 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.886-11T>A |
single nucleotide variant |
Mevalonic aciduria [RCV005217418] |
Chr12:109595017 [GRCh38]
Chr12:110032822 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.562T>G (p.Trp188Gly) |
single nucleotide variant |
Mevalonic aciduria [RCV005216392] |
Chr12:109586056 [GRCh38]
Chr12:110023861 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1019G>A (p.Gly340Asp) |
single nucleotide variant |
Mevalonic aciduria [RCV005219845] |
Chr12:109595161 [GRCh38]
Chr12:110032966 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.227-7G>A |
single nucleotide variant |
Mevalonic aciduria [RCV005215395] |
Chr12:109579795 [GRCh38]
Chr12:110017600 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.662T>C (p.Ile221Thr) |
single nucleotide variant |
Mevalonic aciduria [RCV005004808] |
Chr12:109586784 [GRCh38]
Chr12:110024589 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.1(MVK):c.-325A>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000084151] |
Chr12:109573563 [GRCh38]
Chr12:110011368 [GRCh37]
Chr12:12q24.11 |
not provided |
| NM_000431.4(MVK):c.78+7_78+10del |
deletion |
MVK-related disorder [RCV004532983]|Mevalonic aciduria [RCV000885892]|not provided [RCV003221881]|not specified [RCV000235967] |
Chr12:109574907..109574910 [GRCh38]
Chr12:110012712..110012715 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.*431C>T |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000298926]|Mevalonic aciduria [RCV000342205] |
Chr12:109597008 [GRCh38]
Chr12:110034813 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000328212]|MVK-related disorder [RCV004529550]|Mevalonic aciduria [RCV000266093]|Mevalonic aciduria [RCV000821340] |
Chr12:109596549 [GRCh38]
Chr12:110034354 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.288T>C (p.Ile96=) |
single nucleotide variant |
Hyperimmunoglobulin D with periodic fever [RCV000262496]|Methylmalonic acidemia [RCV000338611]|Methylmalonic aciduria, cblB type [RCV000555922]|Mevalonic aciduria [RCV000319952]|not provided [RCV004704846]|not specified [RCV000082326] |
Chr12:109568772 [GRCh38]
Chr12:110006577 [GRCh37]
Chr12:12q24.11 |
benign|likely benign |
| NM_052845.3(MMAB):c.-69G>A |
single nucleotide variant |
Methylmalonic acidemia [RCV000359636]|Methylmalonic aciduria, cblB type [RCV000672426] |
Chr12:109573549 [GRCh38]
Chr12:110011354 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.287G>T (p.Gly96Val) |
single nucleotide variant |
not provided [RCV000732569] |
Chr12:109579862 [GRCh38]
Chr12:110017667 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.520G>T (p.Val174Phe) |
single nucleotide variant |
Mevalonic aciduria [RCV003790907] |
Chr12:109581543 [GRCh38]
Chr12:110019348 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.886-293G>T |
single nucleotide variant |
not provided [RCV001548100] |
Chr12:109594735 [GRCh38]
Chr12:110032540 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_052845.4(MMAB):c.61dup (p.Cys21fs) |
duplication |
Methylmalonic aciduria, cblB type [RCV001984532] |
Chr12:109573419..109573420 [GRCh38]
Chr12:110011224..110011225 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.118C>T (p.Arg40Trp) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262071]|Mevalonic aciduria [RCV003774819] |
Chr12:109576037 [GRCh38]
Chr12:110013842 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.186G>C (p.Trp62Cys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262072] |
Chr12:109576105 [GRCh38]
Chr12:110013910 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.843G>T (p.Glu281Asp) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262075]|Mevalonic aciduria [RCV005002812] |
Chr12:109591315 [GRCh38]
Chr12:110029120 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.677G>A (p.Arg226Lys) |
single nucleotide variant |
Mevalonic aciduria [RCV002889767] |
Chr12:109586799 [GRCh38]
Chr12:110024604 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.632-19_632-18inv |
inversion |
Mevalonic aciduria [RCV002913020] |
Chr12:109586735..109586736 [GRCh38]
Chr12:110024540..110024541 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.350T>C (p.Leu117Pro) |
single nucleotide variant |
Mevalonic aciduria [RCV003058396] |
Chr12:109579925 [GRCh38]
Chr12:110017730 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.66C>G (p.Phe22Leu) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV003068281] |
Chr12:109573415 [GRCh38]
Chr12:110011220 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.501G>A (p.Pro167=) |
single nucleotide variant |
Mevalonic aciduria [RCV002944195] |
Chr12:109581524 [GRCh38]
Chr12:110019329 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.788C>G (p.Pro263Arg) |
single nucleotide variant |
Mevalonic aciduria [RCV004785210]|Nemaline myopathy 6 [RCV004813246] |
Chr12:109591260 [GRCh38]
Chr12:110029065 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.88C>T (p.Pro30Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004961272]|Methylmalonic aciduria, cblB type [RCV003338191] |
Chr12:109573393 [GRCh38]
Chr12:110011198 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.215C>T (p.Thr72Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003370426] |
Chr12:109576134 [GRCh38]
Chr12:110013939 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.486G>A (p.Glu162=) |
single nucleotide variant |
Mevalonic aciduria [RCV003807594] |
Chr12:109581509 [GRCh38]
Chr12:110019314 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.46_49del (p.Leu16fs) |
deletion |
Mevalonic aciduria [RCV003800346] |
Chr12:109574866..109574869 [GRCh38]
Chr12:110012671..110012674 [GRCh37]
Chr12:12q24.11 |
pathogenic |
| NM_000431.4(MVK):c.677+19A>C |
single nucleotide variant |
Mevalonic aciduria [RCV003809102] |
Chr12:109586818 [GRCh38]
Chr12:110024623 [GRCh37]
Chr12:12q24.11 |
likely benign |
| NM_000431.4(MVK):c.562T>C (p.Trp188Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004438505] |
Chr12:109586056 [GRCh38]
Chr12:110023861 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.605G>C (p.Gly202Ala) |
single nucleotide variant |
not specified [RCV004800917] |
Chr12:109586099 [GRCh38]
Chr12:110023904 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_052845.4(MMAB):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV005006786] |
Chr12:109573476 [GRCh38]
Chr12:110011281 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
| NM_000431.4(MVK):c.1144del (p.Ala382fs) |
deletion |
Mevalonic aciduria [RCV005006799] |
Chr12:109596530 [GRCh38]
Chr12:110034335 [GRCh37]
Chr12:12q24.11 |
likely pathogenic |
| NM_052845.4(MMAB):c.28C>A (p.Leu10Ile) |
single nucleotide variant |
Methylmalonic aciduria, cblB type [RCV005004801] |
Chr12:109573453 [GRCh38]
Chr12:110011258 [GRCh37]
Chr12:12q24.11 |
uncertain significance |
