MVK — 744 ClinVar variants

All ClinVar germline MVK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 257 flagged for review →

45 Pathogenic · 23 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 58 Conflicting · 48 Benign · 12 Benign/Likely benign · 255 Likely benign · 268 Uncertain significance

Full MVK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 257

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 11

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

MVK p.Arg215Gln Pathogenic/Likely pathogenic Multiple submitters
MVK-related disorder
MVK p.Gly309Ser Likely pathogenic Multiple submitters
mevalonate kinase deficiency
MVK p.Gly326Arg Pathogenic/Likely pathogenic Multiple submitters
mevalonic aciduria
MVK p.Leu264Phe Pathogenic Multiple submitters
mevalonic aciduria
MVK p.Pro167Leu Pathogenic/Likely pathogenic Multiple submitters
MVK-related disorder
MVK p.Val377Ile Pathogenic/Likely pathogenic Multiple submitters
autoinflammatory syndrome
MVK p.Asp366Gly Likely pathogenic Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Ile298Thr Likely pathogenic Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Pro165Leu Likely pathogenic Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Pro167Gln Likely pathogenic Single submitter
mevalonic aciduria
MVK p.Val250Ile Likely pathogenic Single submitter
mevalonic aciduria

Predictors agree, ClinVar conflicts 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MVK p.Arg277His Conflicting Single submitter
autoinflammatory syndrome
MVK p.Asn175Ser Conflicting Single submitter
Inborn genetic diseases
MVK p.Asp100Asn Conflicting Single submitter
autoinflammatory syndrome
MVK p.Asp386Asn Conflicting Single submitter
autoinflammatory syndrome
MVK p.Gly18Arg Conflicting Single submitter
MVK p.Ile268Val Conflicting Single submitter
mevalonic aciduria
MVK p.Leu35Ser Conflicting Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Ser272Phe Conflicting Single submitter
MVK-related disorder
MVK p.Ser329Arg Conflicting Single submitter
mevalonic aciduria
MVK p.Thr356Met Conflicting Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Val250Phe Conflicting Single submitter
mevalonic aciduria
MVK p.Val5Ala Conflicting Single submitter
autoinflammatory syndrome
MVK p.Val80Ile Conflicting Single submitter
autoinflammatory syndrome
MVK p.Val8Met Conflicting Single submitter
mevalonic aciduria

Predictors lean, ClinVar uncertain 164

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 164

MVK p.Ala111Thr Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Ala245Ser Uncertain significance Multiple submitters
autoinflammatory syndrome
MVK p.Ala245Val Uncertain significance Multiple submitters
inherited retinal dystrophy
MVK p.Ala262Val Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Ala285Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Ala313Thr Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Ala65Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Arg106Cys Uncertain significance Multiple submitters
hyperimmunoglobulinemia D with periodic fever
MVK p.Arg106His Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Arg121Gln Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Arg325Cys Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Arg325His Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Arg388Gln Uncertain significance Multiple submitters
MVK-related disorder
MVK p.Arg66Lys Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Asn252Ser Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Cys173Tyr Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Gln290His Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Gln350Pro Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Gln68Arg Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Gln77Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Glu162Lys Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Glu281Asp Uncertain significance Multiple submitters
autoinflammatory syndrome
MVK p.Glu349Ala Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Glu349Val Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Gly140Arg Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Gly198Arg Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Gly283Ala Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Gly340Ala Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Gly96Val Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.His24Pro Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Ile221Met Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Ile56Val Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Ile58Val Uncertain significance Multiple submitters
inherited retinal dystrophy
MVK p.Leu214His Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Leu292Phe Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Leu297Ile Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Leu39Phe Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Leu97Phe Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Lys13Gln Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Pro11Leu Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Pro11Ser Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Pro263Arg Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Pro286Leu Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Pro288Leu Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Pro351Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Ser227Leu Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Val103Ile Uncertain significance Multiple submitters
hyperimmunoglobulinemia D with periodic fever
MVK p.Val109Leu Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Val132Ile Uncertain significance Multiple submitters
hyperimmunoglobulinemia D with periodic fever
MVK p.Val261Met Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Val293Met Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Ala102Val Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Ala10Val Uncertain significance Single submitter
MVK p.Ala154Thr Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Ala213Val Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ala229Val Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ala262Ser Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Ala287Gly Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Ala313Asp Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Ala313Val Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Ala359Asp Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Ala359Pro Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ala392Thr Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ala392Val Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Ala65Val Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Arg226Lys Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Arg251Lys Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Arg60Gln Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Asn166Lys Uncertain significance Single submitter
MVK p.Asn205Tyr Uncertain significance Single submitter
MVK p.Asn236Asp Uncertain significance Single submitter
mevalonic aciduria
MVK p.Asn242Asp Uncertain significance Single submitter
mevalonic aciduria
MVK p.Asn301His Uncertain significance Single submitter
mevalonic aciduria
MVK p.Asp130Asn Uncertain significance Single submitter
mevalonic aciduria
MVK p.Asp269Asn Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Asp63Asn Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Asp79Tyr Uncertain significance Single submitter
inherited retinal dystrophy
MVK p.Cys275Arg Uncertain significance Single submitter
MVK p.Cys319Ser Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Cys363Tyr Uncertain significance Single submitter
mevalonic aciduria
MVK p.Gln123Arg Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Gln123Leu Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Gln358Pro Uncertain significance Single submitter
mevalonic aciduria
MVK p.Glu193Lys Uncertain significance Single submitter
mevalonic aciduria
MVK p.Glu259Lys Uncertain significance Single submitter
mevalonic aciduria
MVK p.Glu289Gln Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Glu349Gln Uncertain significance Single submitter
mevalonic aciduria
MVK p.Glu352Ala Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Glu76Gly Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Glu89Lys Uncertain significance Single submitter
mevalonic aciduria
MVK p.Glu93Ala Uncertain significance Single submitter
MVK p.Gly140Val Uncertain significance Single submitter
mevalonic aciduria
MVK p.Gly144Val Uncertain significance Single submitter
MVK p.Gly202Ala Uncertain significance Single submitter
MVK p.Gly202Glu Uncertain significance Single submitter
MVK p.Gly333Asp Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Gly340Asp Uncertain significance Single submitter
mevalonic aciduria
MVK p.His24Arg Uncertain significance Single submitter
mevalonic aciduria
MVK p.His312Gln Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Ile164Asn Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Ile260Phe Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ile271Val Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ile298Val Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Ile379Val Uncertain significance Single submitter
mevalonic aciduria
MVK p.Leu117Pro Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Leu117Val Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Leu153Pro Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Leu246Pro Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Leu264Val Uncertain significance Single submitter
mevalonic aciduria
MVK p.Leu292Pro Uncertain significance Single submitter
MVK p.Leu29Pro Uncertain significance Single submitter
mevalonic aciduria
MVK p.Leu2Phe Uncertain significance Single submitter
mevalonic aciduria
MVK p.Leu305Met Uncertain significance Single submitter
MVK p.Leu318Ile Uncertain significance Single submitter
mevalonic aciduria
MVK p.Leu35Phe Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Leu7Val Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Lys179Glu Uncertain significance Single submitter
inherited retinal dystrophy
MVK p.Lys220Thr Uncertain significance Single submitter
mevalonic aciduria
MVK p.Lys92Gln Uncertain significance Single submitter
mevalonic aciduria
MVK p.Met282Ile Uncertain significance Single submitter
mevalonic aciduria
MVK p.Met300Val Uncertain significance Single submitter
mevalonic aciduria
MVK p.Pro139Ala Uncertain significance Single submitter
mevalonic aciduria
MVK p.Pro139Leu Uncertain significance Single submitter
MVK p.Pro375Leu Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Pro83Ser Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ser128Ile Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ser150Trp Uncertain significance Single submitter
MVK p.Ser222Thr Uncertain significance Single submitter
MVK p.Ser227Trp Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Ser267Ala Uncertain significance Single submitter
MVK p.Ser329Asn Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ser378Cys Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ser381Leu Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Ser384Cys Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ser45Asn Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ser52Ile Uncertain significance Single submitter
MVK p.Ser85Leu Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Thr178Ile Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Thr209Ile Uncertain significance Single submitter
mevalonic aciduria
MVK p.Thr237Ala Uncertain significance Single submitter
mevalonic aciduria
MVK p.Thr243Asn Uncertain significance Single submitter
mevalonic aciduria
MVK p.Thr342Ile Uncertain significance Single submitter
MVK p.Thr356Ala Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Thr356Lys Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Thr370Asn Uncertain significance Single submitter
MVK p.Thr370Ile Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Thr37Ile Uncertain significance Single submitter
mevalonic aciduria
MVK p.Thr72Ile Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Thr82Ala Uncertain significance Single submitter
mevalonic aciduria
MVK p.Trp188Arg Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 68

The independent predictors disagree with each other — read with care.

MVK p.Ala189Ser Uncertain significance Multiple submitters
autoinflammatory syndrome
MVK p.Arg121Trp Uncertain significance Multiple submitters
autoinflammatory syndrome
MVK p.Arg241His Uncertain significance Multiple submitters
hyperimmunoglobulinemia D with periodic fever
MVK p.Arg40Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Arg40Leu Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Arg40Trp Uncertain significance Multiple submitters
autoinflammatory syndrome
MVK p.Asp130Gly Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Asp63Val Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Gly171Arg Uncertain significance Multiple submitters
hyperimmunoglobulinemia D with periodic fever
MVK p.Pro240Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Pro240Ser Uncertain significance Multiple submitters
mevalonic aciduria
MVK p.Ser150Leu Uncertain significance Multiple submitters
hyperimmunoglobulinemia D with periodic fever
MVK p.Thr237Ser Pathogenic/Likely pathogenic Multiple submitters
mevalonate kinase deficiency
MVK p.Tyr114Cys Uncertain significance Multiple submitters
porokeratosis 3, disseminated superficial actinic type
MVK p.Val203Ala Pathogenic/Likely pathogenic Multiple submitters
mevalonate kinase deficiency
MVK p.Val23Ile Uncertain significance Multiple submitters
hyperimmunoglobulinemia D with periodic fever
MVK p.Val278Met Uncertain significance Multiple submitters
Inborn genetic diseases
MVK p.Val27Gly Uncertain significance Multiple submitters
hyperimmunoglobulinemia D with periodic fever
MVK p.Ala141Val Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Ala270Asp Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ala28Ser Uncertain significance Single submitter
mevalonate kinase deficiency
MVK p.Ala30Val Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Arg176Gly Uncertain significance Single submitter
mevalonic aciduria
MVK p.Arg194Ile Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Arg215Leu Uncertain significance Single submitter
MVK p.Arg241Cys Conflicting Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Arg277Cys Conflicting Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Arg277Leu Uncertain significance Single submitter
MVK p.Arg325Gly Uncertain significance Single submitter
MVK p.Arg60Trp Conflicting Single submitter
mevalonic aciduria
MVK p.Asn199Tyr Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Asn205Ser Conflicting Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Asp366His Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Asp366Tyr Uncertain significance Single submitter
mevalonic aciduria
MVK p.Cys101Tyr Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Cys275Tyr Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Gln218Pro Uncertain significance Single submitter
mevalonic aciduria
MVK p.Glu105Lys Uncertain significance Single submitter
mevalonic aciduria
MVK p.Glu296Gly Uncertain significance Single submitter
MVK p.Gly171Glu Conflicting Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Gly212Glu Uncertain significance Single submitter
MVK p.Gly347Arg Uncertain significance Single submitter
MVK p.Gly373Ser Uncertain significance Single submitter
Inborn genetic diseases
MVK p.His24Tyr Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ile185Thr Uncertain significance Single submitter
mevalonic aciduria
MVK p.Ile221Thr Uncertain significance Single submitter
mevalonic aciduria
MVK p.Leu29Val Uncertain significance Single submitter
mevalonic aciduria
MVK p.Leu315Val Conflicting Single submitter
MVK p.Leu343Phe Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Leu348Pro Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Leu360Val Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Leu51Phe Conflicting Single submitter
mevalonic aciduria
MVK p.Leu6Gln Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Met282Thr Uncertain significance Single submitter
MVK p.Phe38Leu Uncertain significance Single submitter
mevalonic aciduria
MVK p.Pro127Leu Conflicting Single submitter
mevalonic aciduria
MVK p.Pro138Leu Uncertain significance Single submitter
MVK p.Pro228Leu Uncertain significance Single submitter
MVK p.Pro258Ala Uncertain significance Single submitter
MVK p.Pro263Ser Uncertain significance Single submitter
MVK p.Pro43Ser Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Ser135Ala Uncertain significance Single submitter
MVK p.Thr322Ser Uncertain significance Single submitter
hyperimmunoglobulinemia D with periodic fever
MVK p.Trp134Cys Uncertain significance Single submitter
MVK p.Trp210Arg Uncertain significance Single submitter
Inborn genetic diseases
MVK p.Val160Glu Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type
MVK p.Val310Ala Uncertain significance Single submitter
MVK p.Val321Met Uncertain significance Single submitter
porokeratosis 3, disseminated superficial actinic type

All MVK variants

Pathogenic 45

p.Ala334Thr Multiple submitters mevalonic aciduria
p.Arg215Ter Multiple submitters mevalonic aciduria
p.Arg388Ter Multiple submitters MVK-related disorder
p.His20Asn Multiple submitters mevalonic aciduria
p.His20Pro Multiple submitters Primary immunodeficiency or monogenic inflammatory bowel disease
p.Leu264Phe Multiple submitters mevalonic aciduria ⚠
p.Leu70fs Multiple submitters mevalonic aciduria
p.Lys187fs Multiple submitters mevalonic aciduria
p.Trp62Ter Multiple submitters mevalonic aciduria
p.Val310Met Multiple submitters autoinflammatory syndrome
p.Ala141fs Single submitter mevalonic aciduria
p.Ala355fs Single submitter mevalonic aciduria
p.Cys161fs Single submitter hyperimmunoglobulinemia D with periodic fever
p.Gln358Ter Single submitter mevalonic aciduria
p.Gly25fs Single submitter mevalonic aciduria
p.Gly326Ter Single submitter mevalonic aciduria
p.Gly364fs Single submitter hyperimmunoglobulinemia D with periodic fever
p.Leu129fs Single submitter mevalonic aciduria
p.Leu16fs Single submitter mevalonic aciduria
p.Leu182Ter Single submitter mevalonic aciduria
p.Leu224fs Single submitter mevalonic aciduria
p.Leu224Ter Single submitter porokeratosis 3, disseminated superficial actinic type
p.Leu264fs Single submitter mevalonic aciduria
p.Lys13Ter Single submitter mevalonic aciduria
p.Lys238Ter Single submitter mevalonic aciduria
p.Met1Ile Single submitter mevalonic aciduria
p.Met1Leu Single submitter porokeratosis 3, disseminated superficial actinic type
p.Met1Val Single submitter mevalonic aciduria
p.Ser128fs Single submitter mevalonic aciduria
p.Ser135Leu Single submitter hyperimmunoglobulinemia D with periodic fever
p.Ser208fs Single submitter porokeratosis 3, disseminated superficial actinic type
p.Ser222fs Single submitter mevalonic aciduria
p.Trp210Ter Single submitter hyperimmunoglobulinemia D with periodic fever
p.Tyr114fs Single submitter mevalonic aciduria
p.Tyr116fs Single submitter mevalonic aciduria
p.Tyr149Ter Single submitter mevalonic aciduria
p.Val132fs Single submitter porokeratosis 3, disseminated superficial actinic type
c.1039+1G>A No assertion criteria porokeratosis 3, disseminated superficial actinic type
c.1039+2T>C No assertion criteria porokeratosis 3, disseminated superficial actinic type
c.-1880_527+533del No assertion criteria porokeratosis 3, disseminated superficial actinic type
p.Asn301Thr No assertion criteria mevalonic aciduria
p.Leu255Pro No assertion criteria porokeratosis 3, disseminated superficial actinic type
p.Leu41Pro No assertion criteria porokeratosis 3, disseminated superficial actinic type
p.Leu6fs No assertion criteria mevalonic aciduria
p.Phe365Ser No assertion criteria porokeratosis 3, disseminated superficial actinic type

Pathogenic/Likely pathogenic 23

p.Ala148Thr Multiple submitters mevalonic aciduria
p.Arg215Gln Multiple submitters MVK-related disorder ⚠
p.Asn205Asp Multiple submitters MVK-related disorder
p.Gln302Ter Multiple submitters mevalonic aciduria
p.Glu93fs Multiple submitters MVK-related disorder
p.Gly140fs Multiple submitters MVK-related disorder
p.Gly202Arg Multiple submitters mevalonic aciduria
p.Gly326Arg Multiple submitters mevalonic aciduria ⚠
p.Gly336Ser Multiple submitters mevalonic aciduria
p.Gly376Ser Multiple submitters mevalonic aciduria
p.His20Gln Multiple submitters mevalonic aciduria
p.His380Arg Multiple submitters mevalonate kinase deficiency
p.His44fs Multiple submitters mevalonic aciduria
p.Ile268Thr Multiple submitters autoinflammatory syndrome
p.Leu117fs Multiple submitters MVK-related disorder
p.Leu315fs Multiple submitters MVK-related disorder
p.Pro167Leu Multiple submitters MVK-related disorder ⚠
p.Thr237Ser Multiple submitters mevalonate kinase deficiency ⚠
p.Trp188Ter Multiple submitters mevalonate kinase deficiency
p.Tyr116His Multiple submitters MVK-related disorder
p.Val203Ala Multiple submitters mevalonate kinase deficiency ⚠
p.Val203fs Multiple submitters MVK-related disorder
p.Val377Ile Multiple submitters autoinflammatory syndrome ⚠

Likely pathogenic 35

c.1039+1G>C Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.677+1G>A Multiple submitters mevalonic aciduria
c.78+1G>A Multiple submitters MVK-related disorder
c.79-2A>G Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Ala147Thr Multiple submitters mevalonic aciduria
p.Glu284fs Multiple submitters MVK-related disorder
p.Gly309Ser Multiple submitters mevalonate kinase deficiency ⚠
p.Leu265Arg Multiple submitters MVK-related disorder
c.226+1del Single submitter mevalonic aciduria
c.226+1G>T Single submitter MVK-related disorder
c.527+2T>G Single submitter mevalonic aciduria
c.632-2A>C Single submitter porokeratosis 3, disseminated superficial actinic type
c.677+1G>T Single submitter hyperimmunoglobulinemia D with periodic fever
c.678-1G>A Single submitter mevalonic aciduria
c.768+1G>T Single submitter mevalonic aciduria
c.768+4A>G Single submitter mevalonic aciduria
c.78+1G>T Single submitter mevalonic aciduria
c.885+2dup Single submitter mevalonic aciduria
p.Ala21Val Single submitter hyperimmunoglobulinemia D with periodic fever
p.Ala382fs Single submitter mevalonic aciduria
p.Asp366Gly Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Gln87Ter Single submitter MVK-related disorder
p.Ile298Thr Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Leu113fs Single submitter mevalonic aciduria
p.Leu182Phe Single submitter MVK-related disorder
p.Leu230fs Single submitter hyperimmunoglobulinemia D with periodic fever
p.Pro165Leu Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Pro167Gln Single submitter mevalonic aciduria ⚠
p.Ser222Ter Single submitter mevalonic aciduria
p.Ser267Pro Single submitter hyperimmunoglobulinemia D with periodic fever
p.Thr84fs Single submitter
p.Tyr291Ter Single submitter autoinflammatory syndrome
p.Val22Met Single submitter
p.Val250Ile Single submitter mevalonic aciduria ⚠
c.768+71C>A No assertion criteria mevalonic aciduria

Conflicting classifications of pathogenicity 58

c.1039+7C>T Single submitter autoinflammatory syndrome
c.1040-4G>A Single submitter porokeratosis 3, disseminated superficial actinic type
c.1040-5C>T Single submitter mevalonic aciduria
c.226+4A>G Single submitter autoinflammatory syndrome
c.227-20C>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.371+13T>C Single submitter mevalonic aciduria
c.372-9G>A Single submitter porokeratosis 3, disseminated superficial actinic type
c.527+10G>A Single submitter mevalonic aciduria
c.527+13C>A Single submitter mevalonic aciduria
c.527+8T>C Single submitter mevalonic aciduria
c.632-19_632-18inv Single submitter porokeratosis 3, disseminated superficial actinic type
c.78+8G>A Single submitter mevalonic aciduria
c.886-15A>T Single submitter hyperimmunoglobulinemia D with periodic fever
c.-178A>G Single submitter autoinflammatory syndrome
p.Ala141= Single submitter mevalonic aciduria
p.Ala147= Single submitter autoinflammatory syndrome
p.Arg241Cys Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Arg277Cys Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Arg277His Single submitter autoinflammatory syndrome ⚠
p.Arg325= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Arg60Trp Single submitter mevalonic aciduria ⚠
p.Asn175Ser Single submitter Inborn genetic diseases ⚠
p.Asn205Ser Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Asp100Asn Single submitter autoinflammatory syndrome ⚠
p.Asp386Asn Single submitter autoinflammatory syndrome ⚠
p.Cys161= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Gln42= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Glu86= Single submitter inherited retinal dystrophy
p.Gly171Glu Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Gly18Arg Single submitter ⚠
p.Gly249= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Gly309= Single submitter mevalonic aciduria
p.Gly333= Single submitter autoinflammatory syndrome
p.His197= Single submitter hyperimmunoglobulinemia D with periodic fever
p.His312= Single submitter mevalonic aciduria
p.Ile268Val Single submitter mevalonic aciduria ⚠
p.Ile372= Single submitter mevalonic aciduria
p.Leu230= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Leu273= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Leu292= Single submitter autoinflammatory syndrome
p.Leu308= Single submitter autoinflammatory syndrome
p.Leu315= Single submitter mevalonic aciduria
p.Leu315Val Single submitter ⚠
p.Leu35Ser Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Leu51Phe Single submitter mevalonic aciduria ⚠
p.Leu70= Single submitter autoinflammatory syndrome
p.Pro11= Single submitter mevalonic aciduria
p.Pro127Leu Single submitter mevalonic aciduria ⚠
p.Ser227= Single submitter mevalonic aciduria
p.Ser272Phe Single submitter MVK-related disorder ⚠
p.Ser329Arg Single submitter mevalonic aciduria ⚠
p.Ter397Arg Single submitter porokeratosis 3, disseminated superficial actinic type
p.Thr104= Single submitter mevalonic aciduria
p.Thr356Met Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Val250Phe Single submitter mevalonic aciduria ⚠
p.Val5Ala Single submitter autoinflammatory syndrome ⚠
p.Val80Ile Single submitter autoinflammatory syndrome ⚠
p.Val8Met Single submitter mevalonic aciduria ⚠

Benign 48

c.226+105C>T Multiple submitters
c.527+53C>T Multiple submitters
c.677+12del Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.678-243A>G Multiple submitters
c.769-38C>T Multiple submitters autoinflammatory syndrome
c.78+177G>A Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.78+61A>G Multiple submitters
c.79-164T>G Multiple submitters
c.885+117C>A Multiple submitters
c.885+24G>A Multiple submitters
c.-14-104C>G Multiple submitters
c.-14-147G>T Multiple submitters
c.*58dup Multiple submitters mevalonic aciduria
c.1039+12dup Single submitter mevalonic aciduria
c.1039+196C>T Single submitter
c.1039+284G>C Single submitter
c.1040-91G>A Single submitter
c.226+106G>A Single submitter
c.226+8C>T Single submitter
c.227-40C>G Single submitter
c.227-482T>C Single submitter
c.227-655T>A Single submitter
c.227-660T>A Single submitter
c.372-302C>T Single submitter
c.528-138G>A Single submitter
c.528-155G>A Single submitter
c.528-254dup Single submitter
c.677+103T>C Single submitter
c.678-38T>C Single submitter
c.678-7C>A Single submitter
c.768+101T>G Single submitter
c.768+117C>A Single submitter
c.768+12T>G Single submitter
c.768+182T>A Single submitter
c.768+24C>T Single submitter
c.768+6T>C Single submitter
c.769-181G>A Single submitter
c.78+105A>G Single submitter
c.78+141G>A Single submitter
c.885+148C>T Single submitter
c.885+51A>C Single submitter
c.885+92G>A Single submitter
c.-15+61G>A Single submitter
c.*168C>T Single submitter
c.*183C>T Single submitter
c.*412C>T Single submitter hyperimmunoglobulinemia D with periodic fever
c.*660G>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.*76G>T Single submitter

Benign/Likely benign 12

c.371+8C>T Multiple submitters mevalonic aciduria
c.528-18G>A Multiple submitters mevalonic aciduria
c.632-18A>G Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.769-7T>G Multiple submitters nemaline myopathy 5
c.-15+11G>A Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Arg277= Multiple submitters autoinflammatory syndrome
p.Asp170= Multiple submitters autoinflammatory syndrome
p.Gly376= Multiple submitters inherited retinal dystrophy
p.Pro127= Multiple submitters autoinflammatory syndrome
p.Pro263= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Ser135= Multiple submitters autoinflammatory syndrome
p.Ser52Asn Multiple submitters autoinflammatory syndrome

Likely benign 255

c.1040-10C>T Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.371+20A>G Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.371+8C>A Multiple submitters mevalonic aciduria
c.371+9G>A Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.528-15C>T Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.632-13T>C Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.677+12G>A Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.677+12G>T Multiple submitters mevalonic aciduria
c.677+18C>T Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.677+8G>T Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.678-16C>T Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.769-10T>C Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.769-18C>T Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.78+11G>A Multiple submitters mevalonic aciduria
c.78+7_78+10del Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.885+15G>A Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.886-172T>C Multiple submitters
c.-14-17T>C Multiple submitters porokeratosis 3, disseminated superficial actinic type
c.-15+16C>T Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Ala206= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Ala21= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Ala285= Multiple submitters mevalonic aciduria
p.Asp99= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Cys173= Multiple submitters mevalonic aciduria
p.Gly335= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.His20= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Ile260= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Leu107= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Leu117= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Leu224= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Leu234= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Leu6= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Leu7= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Phe112= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Pro167= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Pro288= Multiple submitters mevalonic aciduria
p.Pro375= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Ser128= Multiple submitters inherited retinal dystrophy
p.Ser150= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Ser201= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Ser208= Multiple submitters mevalonic aciduria
p.Ser3= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Ser314= Multiple submitters mevalonic aciduria
p.Ser378= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Thr243= Multiple submitters porokeratosis 3, disseminated superficial actinic type
p.Thr72= Multiple submitters hyperimmunoglobulinemia D with periodic fever
p.Val353= Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.1039+12G>A Single submitter mevalonic aciduria
c.1039+7dup Single submitter porokeratosis 3, disseminated superficial actinic type
c.1039+8G>A Single submitter mevalonic aciduria
c.1039+8G>C Single submitter mevalonic aciduria
c.1040-15C>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.1040-19C>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.226+17G>C Single submitter mevalonic aciduria
c.226+180A>G Single submitter
c.226+19A>C Single submitter mevalonic aciduria
c.226+7G>A Single submitter mevalonic aciduria
c.226+7G>T Single submitter mevalonic aciduria
c.226+9A>G Single submitter mevalonic aciduria
c.227-10T>G Single submitter mevalonic aciduria
c.227-15T>C Single submitter mevalonic aciduria
c.227-17G>A Single submitter porokeratosis 3, disseminated superficial actinic type
c.371+12G>A Single submitter porokeratosis 3, disseminated superficial actinic type
c.371+14C>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.371+19G>C Single submitter porokeratosis 3, disseminated superficial actinic type
c.371+20_371+22del Single submitter mevalonic aciduria
c.371+20A>T Single submitter mevalonic aciduria
c.371+313_371+314insCC Single submitter
c.372-11G>C Single submitter
c.372-12G>C Single submitter mevalonic aciduria
c.372-14C>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.372-15C>G Single submitter mevalonic aciduria
c.372-15C>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.372-16C>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.372-16C>G Single submitter hyperimmunoglobulinemia D with periodic fever
c.372-18C>T Single submitter mevalonic aciduria
c.372-4T>C Single submitter
c.527+11T>A Single submitter mevalonic aciduria
c.527+17C>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.527+17C>T Single submitter mevalonic aciduria
c.527+20G>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.527+7A>C Single submitter mevalonic aciduria
c.527+7A>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.527+9G>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.528-10_528-7del Single submitter porokeratosis 3, disseminated superficial actinic type
c.528-100A>G Single submitter
c.528-10G>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.528-14A>G Single submitter mevalonic aciduria
c.528-17A>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.528-226C>T Single submitter
c.528-7T>C Single submitter mevalonic aciduria
c.631+14C>T Single submitter mevalonic aciduria
c.631+16G>A Single submitter mevalonic aciduria
c.632-11T>C Single submitter hyperimmunoglobulinemia D with periodic fever
c.632-12T>G Single submitter mevalonic aciduria
c.632-14G>A Single submitter mevalonic aciduria
c.632-18A>T Single submitter hyperimmunoglobulinemia D with periodic fever
c.632-19C>T Single submitter
c.632-6C>T Single submitter mevalonic aciduria
c.632-8C>T Single submitter mevalonic aciduria
c.632-9T>C Single submitter mevalonic aciduria
c.677+11G>A Single submitter porokeratosis 3, disseminated superficial actinic type
c.677+13T>G Single submitter hyperimmunoglobulinemia D with periodic fever
c.677+15G>A Single submitter mevalonic aciduria
c.677+19A>C Single submitter mevalonic aciduria
c.677+7del Single submitter porokeratosis 3, disseminated superficial actinic type
c.677+9G>A Single submitter mevalonic aciduria
c.677+9G>T Single submitter mevalonic aciduria
c.678-13C>T Single submitter
c.678-15_678-13del Single submitter porokeratosis 3, disseminated superficial actinic type
c.678-16C>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.678-4G>A Single submitter mevalonic aciduria
c.678-8C>A Single submitter porokeratosis 3, disseminated superficial actinic type
c.678-8C>T Single submitter mevalonic aciduria
c.768+14C>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.768+18C>T Single submitter mevalonic aciduria
c.768+20T>C Single submitter
c.768+23G>C Single submitter hyperimmunoglobulinemia D with periodic fever
c.768+86G>C Single submitter
c.769-14_769-12del Single submitter mevalonic aciduria
c.769-19T>G Single submitter
c.769-24G>A Single submitter
c.769-33G>T Single submitter
c.769-5T>A Single submitter mevalonic aciduria
c.769-5T>C Single submitter hyperimmunoglobulinemia D with periodic fever
c.769-6dup Single submitter mevalonic aciduria
c.769-7T>C Single submitter mevalonic aciduria
c.769-8T>C Single submitter mevalonic aciduria
c.78+10C>A Single submitter porokeratosis 3, disseminated superficial actinic type
c.78+10C>T Single submitter mevalonic aciduria
c.78+11G>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.78+18C>T Single submitter hyperimmunoglobulinemia D with periodic fever
c.78+19C>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.78+20T>C Single submitter mevalonic aciduria
c.78+20T>G Single submitter mevalonic aciduria
c.78+265A>G Single submitter
c.79-11T>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.79-16G>A Single submitter mevalonic aciduria
c.79-176G>A Single submitter
c.79-4A>G Single submitter mevalonic aciduria
c.79-8T>A Single submitter mevalonic aciduria
c.885+8C>T Single submitter mevalonic aciduria
c.886-11T>A Single submitter mevalonic aciduria
c.886-12C>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.886-19A>G Single submitter porokeratosis 3, disseminated superficial actinic type
c.886-19A>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.886-22_886-20del Single submitter mevalonic aciduria
c.886-293G>T Single submitter
c.886-7C>T Single submitter porokeratosis 3, disseminated superficial actinic type
c.-14-8C>T Single submitter
c.-29C>T Single submitter
c.*90G>A Single submitter mevalonic aciduria
p.Ala262= Single submitter
p.Ala28= Single submitter mevalonic aciduria
p.Ala287= Single submitter mevalonic aciduria
p.Ala30= Single submitter mevalonic aciduria
p.Ala307= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Ala374= Single submitter mevalonic aciduria
p.Ala392= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Arg106= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Arg241= Single submitter mevalonic aciduria
p.Asn186= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Asn205= Single submitter mevalonic aciduria
p.Asp100= Single submitter mevalonic aciduria
p.Asp269= Single submitter mevalonic aciduria
p.Asp366= Single submitter mevalonic aciduria
p.Cys367= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Gln191= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Gln290= Single submitter mevalonic aciduria
p.Gln317= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Gln358= Single submitter
p.Glu162= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Glu183= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Glu296= Single submitter mevalonic aciduria
p.Glu354= Single submitter mevalonic aciduria
p.Glu93= Single submitter mevalonic aciduria
p.Gly12= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Gly140= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Gly142= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Gly171= Single submitter mevalonic aciduria
p.Gly336= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Gly364= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Gly96= Single submitter hyperimmunoglobulinemia D with periodic fever
p.His217= Single submitter porokeratosis 3, disseminated superficial actinic type
p.His380= Single submitter mevalonic aciduria
p.His44= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Ile131= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Ile379= Single submitter mevalonic aciduria
p.Ile56= Single submitter mevalonic aciduria
p.Leu110= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Leu115= Single submitter mevalonic aciduria
p.Leu126= Single submitter mevalonic aciduria
p.Leu129= Single submitter mevalonic aciduria
p.Leu153= Single submitter mevalonic aciduria
p.Leu168= Single submitter mevalonic aciduria
p.Leu233= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Leu246= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Leu254= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Leu255= Single submitter mevalonic aciduria
p.Leu265= Single submitter mevalonic aciduria
p.Leu279= Single submitter mevalonic aciduria
p.Leu305= Single submitter
p.Leu343= Single submitter mevalonic aciduria
p.Leu348= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Leu360= Single submitter mevalonic aciduria
p.Leu368= Single submitter mevalonic aciduria
p.Leu396= Single submitter mevalonic aciduria
p.Leu51= Single submitter mevalonic aciduria
p.Leu53= Single submitter mevalonic aciduria
p.Leu97= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Lys122= Single submitter mevalonic aciduria
p.Lys169= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Lys357= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Lys48= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Pro139= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Pro200= Single submitter mevalonic aciduria
p.Pro258= Single submitter
p.Pro43= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Pro54= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Pro98= Single submitter mevalonic aciduria
p.Ser145= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Ser146= Single submitter mevalonic aciduria
p.Ser222= Single submitter mevalonic aciduria
p.Ser223= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Ser32= Single submitter mevalonic aciduria
p.Ser371= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Ser381= Single submitter mevalonic aciduria
p.Ser387= Single submitter mevalonic aciduria
p.Ser45= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Ser69= Single submitter mevalonic aciduria
p.Ser9= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Ter397= Single submitter mevalonic aciduria
p.Thr159= Single submitter mevalonic aciduria
p.Thr178= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Thr235= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Thr356= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Thr370= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Thr383= Single submitter mevalonic aciduria
p.Thr84= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Tyr114= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Val109= Single submitter
p.Val14= Single submitter mevalonic aciduria
p.Val151= Single submitter mevalonic aciduria
p.Val207= Single submitter mevalonic aciduria
p.Val239= Single submitter mevalonic aciduria
p.Val261= Single submitter mevalonic aciduria
p.Val293= Single submitter
p.Val389= Single submitter mevalonic aciduria
p.Val49= Single submitter porokeratosis 3, disseminated superficial actinic type
p.Val5= Single submitter mevalonic aciduria
p.Val64= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Val8= Single submitter hyperimmunoglobulinemia D with periodic fever
p.Val80= Single submitter mevalonic aciduria
p.Val88= Single submitter mevalonic aciduria
p.Gln390= No assertion criteria MVK-related disorder

Uncertain significance 268

c.371+1GT[4] Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.372-3C>T Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.631+3A>G Multiple submitters hyperimmunoglobulinemia D with periodic fever
c.886-2dup Multiple submitters mevalonic aciduria
c.-15G>A Multiple submitters mevalonic aciduria
p.Ala111Thr Multiple submitters mevalonic aciduria ⚠
p.Ala189Ser Multiple submitters autoinflammatory syndrome ⚠
p.Ala245Ser Multiple submitters autoinflammatory syndrome ⚠
p.Ala245Val Multiple submitters inherited retinal dystrophy ⚠
p.Ala262Val Multiple submitters Inborn genetic diseases ⚠
p.Ala285Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala313Thr Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Ala65Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg106Cys Multiple submitters hyperimmunoglobulinemia D with periodic fever ⚠
p.Arg106His Multiple submitters mevalonic aciduria ⚠
p.Arg121Gln Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Arg121Trp Multiple submitters autoinflammatory syndrome ⚠
p.Arg241His Multiple submitters hyperimmunoglobulinemia D with periodic fever ⚠
p.Arg325Cys Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Arg325His Multiple submitters mevalonic aciduria ⚠
p.Arg388Gln Multiple submitters MVK-related disorder ⚠
p.Arg40Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg40Leu Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Arg40Trp Multiple submitters autoinflammatory syndrome ⚠
p.Arg66Lys Multiple submitters mevalonic aciduria ⚠
p.Asn252Ser Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Asp130Gly Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Asp63Val Multiple submitters Inborn genetic diseases ⚠
p.Cys173Tyr Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Gln290His Multiple submitters mevalonic aciduria ⚠
p.Gln350Pro Multiple submitters mevalonic aciduria ⚠
p.Gln68Arg Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Gln77Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu162Lys Multiple submitters mevalonic aciduria ⚠
p.Glu281Asp Multiple submitters autoinflammatory syndrome ⚠
p.Glu349Ala Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Glu349Val Multiple submitters Inborn genetic diseases ⚠
p.Gly140Arg Multiple submitters mevalonic aciduria ⚠
p.Gly171Arg Multiple submitters hyperimmunoglobulinemia D with periodic fever ⚠
p.Gly198Arg Multiple submitters mevalonic aciduria ⚠
p.Gly283Ala Multiple submitters mevalonic aciduria ⚠
p.Gly340Ala Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Gly96Val Multiple submitters mevalonic aciduria ⚠
p.His24Pro Multiple submitters mevalonic aciduria ⚠
p.Ile221Met Multiple submitters Inborn genetic diseases ⚠
p.Ile56Val Multiple submitters mevalonic aciduria ⚠
p.Ile58Val Multiple submitters inherited retinal dystrophy ⚠
p.Leu214His Multiple submitters Inborn genetic diseases ⚠
p.Leu292Phe Multiple submitters mevalonic aciduria ⚠
p.Leu297Ile Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Leu39Phe Multiple submitters mevalonic aciduria ⚠
p.Leu97Phe Multiple submitters mevalonic aciduria ⚠
p.Lys13Gln Multiple submitters mevalonic aciduria ⚠
p.Pro11Leu Multiple submitters mevalonic aciduria ⚠
p.Pro11Ser Multiple submitters mevalonic aciduria ⚠
p.Pro240Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro240Ser Multiple submitters mevalonic aciduria ⚠
p.Pro263Arg Multiple submitters mevalonic aciduria ⚠
p.Pro286Leu Multiple submitters mevalonic aciduria ⚠
p.Pro288Leu Multiple submitters mevalonic aciduria ⚠
p.Pro351Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser150Leu Multiple submitters hyperimmunoglobulinemia D with periodic fever ⚠
p.Ser227Leu Multiple submitters mevalonic aciduria ⚠
p.Tyr114Cys Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Val103Ile Multiple submitters hyperimmunoglobulinemia D with periodic fever ⚠
p.Val109Leu Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Val132Ile Multiple submitters hyperimmunoglobulinemia D with periodic fever ⚠
p.Val23Ile Multiple submitters hyperimmunoglobulinemia D with periodic fever ⚠
p.Val261Met Multiple submitters porokeratosis 3, disseminated superficial actinic type ⚠
p.Val278Met Multiple submitters Inborn genetic diseases ⚠
p.Val27Gly Multiple submitters hyperimmunoglobulinemia D with periodic fever ⚠
p.Val293Met Multiple submitters Inborn genetic diseases ⚠
c.1040-6_1040-5inv Single submitter mevalonic aciduria
c.227-18T>C Single submitter
c.227-7G>A Single submitter mevalonic aciduria
c.227-9G>A Single submitter mevalonic aciduria
c.371+3G>A Single submitter mevalonic aciduria
c.371+4T>C Single submitter hyperimmunoglobulinemia D with periodic fever
c.372-8_381dup Single submitter
c.372-8T>C Single submitter mevalonic aciduria
c.528-3C>T Single submitter mevalonic aciduria
c.631+3A>T Single submitter mevalonic aciduria
c.631+4G>A Single submitter mevalonic aciduria
c.632-3del Single submitter porokeratosis 3, disseminated superficial actinic type
c.632-3T>A Single submitter mevalonic aciduria
c.677+5C>A Single submitter mevalonic aciduria
c.678-3C>A Single submitter mevalonic aciduria
c.-33G>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.-55G>C Single submitter hyperimmunoglobulinemia D with periodic fever
c.*125G>T Single submitter mevalonic aciduria
c.*308G>A Single submitter mevalonic aciduria
c.*332C>T Single submitter hyperimmunoglobulinemia D with periodic fever
c.*333G>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.*358G>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.*431C>T Single submitter hyperimmunoglobulinemia D with periodic fever
c.*468C>T Single submitter hyperimmunoglobulinemia D with periodic fever
c.*486C>T Single submitter mevalonic aciduria
c.*550G>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.*566G>C Single submitter mevalonic aciduria
c.*571G>A Single submitter mevalonic aciduria
c.*601G>A Single submitter hyperimmunoglobulinemia D with periodic fever
c.*75T>G Single submitter mevalonic aciduria
p.Ala102Val Single submitter Inborn genetic diseases ⚠
p.Ala10Val Single submitter ⚠
p.Ala141Val Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Ala154Thr Single submitter Inborn genetic diseases ⚠
p.Ala213Val Single submitter mevalonic aciduria ⚠
p.Ala229Val Single submitter mevalonic aciduria ⚠
p.Ala262Ser Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Ala270Asp Single submitter mevalonic aciduria ⚠
p.Ala287Gly Single submitter Inborn genetic diseases ⚠
p.Ala28Ser Single submitter mevalonate kinase deficiency ⚠
p.Ala30Val Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Ala313Asp Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Ala313Val Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Ala359Asp Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Ala359Pro Single submitter mevalonic aciduria ⚠
p.Ala392Thr Single submitter mevalonic aciduria ⚠
p.Ala392Val Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Ala65Val Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Arg124= Single submitter mevalonic aciduria
p.Arg176= Single submitter mevalonic aciduria
p.Arg176Gly Single submitter mevalonic aciduria ⚠
p.Arg194Ile Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Arg194Ser Single submitter
p.Arg215Leu Single submitter ⚠
p.Arg226= Single submitter mevalonic aciduria
p.Arg226Lys Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Arg251Lys Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Arg277Leu Single submitter ⚠
p.Arg325Gly Single submitter ⚠
p.Arg60Gln Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Asn166Lys Single submitter ⚠
p.Asn199Tyr Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Asn205Tyr Single submitter ⚠
p.Asn236Asp Single submitter mevalonic aciduria ⚠
p.Asn242Asp Single submitter mevalonic aciduria ⚠
p.Asn301His Single submitter mevalonic aciduria ⚠
p.Asp130Asn Single submitter mevalonic aciduria ⚠
p.Asp269Asn Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Asp366His Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Asp366Tyr Single submitter mevalonic aciduria ⚠
p.Asp63Asn Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Asp79Tyr Single submitter inherited retinal dystrophy ⚠
p.Cys101Tyr Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Cys275Arg Single submitter ⚠
p.Cys275Tyr Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Cys319Ser Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Cys363Tyr Single submitter mevalonic aciduria ⚠
p.Gln123Arg Single submitter Inborn genetic diseases ⚠
p.Gln123Leu Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Gln218Pro Single submitter mevalonic aciduria ⚠
p.Gln358Pro Single submitter mevalonic aciduria ⚠
p.Gln42Pro Single submitter mevalonic aciduria
p.Glu105Lys Single submitter mevalonic aciduria ⚠
p.Glu193Lys Single submitter mevalonic aciduria ⚠
p.Glu259Lys Single submitter mevalonic aciduria ⚠
p.Glu289Gln Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Glu296Gly Single submitter ⚠
p.Glu349Gln Single submitter mevalonic aciduria ⚠
p.Glu352Ala Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Glu354fs Single submitter
p.Glu76Gly Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Glu89Lys Single submitter mevalonic aciduria ⚠
p.Glu93Ala Single submitter ⚠
p.Gly140Val Single submitter mevalonic aciduria ⚠
p.Gly144Val Single submitter ⚠
p.Gly202Ala Single submitter ⚠
p.Gly202Glu Single submitter ⚠
p.Gly212Glu Single submitter ⚠
p.Gly280_Leu294del Single submitter mevalonic aciduria
p.Gly333Asp Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Gly338= Single submitter mevalonic aciduria
p.Gly340Asp Single submitter mevalonic aciduria ⚠
p.Gly347Arg Single submitter ⚠
p.Gly373Ser Single submitter Inborn genetic diseases ⚠
p.His24Arg Single submitter mevalonic aciduria ⚠
p.His24Tyr Single submitter mevalonic aciduria ⚠
p.His312Gln Single submitter Inborn genetic diseases ⚠
p.Ile164Asn Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Ile185Thr Single submitter mevalonic aciduria ⚠
p.Ile221Thr Single submitter mevalonic aciduria ⚠
p.Ile260Phe Single submitter mevalonic aciduria ⚠
p.Ile271Val Single submitter mevalonic aciduria ⚠
p.Ile298Val Single submitter Inborn genetic diseases ⚠
p.Ile379Val Single submitter mevalonic aciduria ⚠
p.Leu117Pro Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Leu117Val Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Leu153Pro Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Leu246Pro Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Leu264Val Single submitter mevalonic aciduria ⚠
p.Leu292Pro Single submitter ⚠
p.Leu29Pro Single submitter mevalonic aciduria ⚠
p.Leu29Val Single submitter mevalonic aciduria ⚠
p.Leu2Phe Single submitter mevalonic aciduria ⚠
p.Leu305Met Single submitter ⚠
p.Leu318Ile Single submitter mevalonic aciduria ⚠
p.Leu343Phe Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Leu348Pro Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Leu35Phe Single submitter Inborn genetic diseases ⚠
p.Leu360Val Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Leu6Gln Single submitter Inborn genetic diseases ⚠
p.Leu7Val Single submitter Inborn genetic diseases ⚠
p.Lys179Glu Single submitter inherited retinal dystrophy ⚠
p.Lys220Thr Single submitter mevalonic aciduria ⚠
p.Lys26= Single submitter
p.Lys92Gln Single submitter mevalonic aciduria ⚠
p.Met282Ile Single submitter mevalonic aciduria ⚠
p.Met282Thr Single submitter ⚠
p.Met300Val Single submitter mevalonic aciduria ⚠
p.Phe38Leu Single submitter mevalonic aciduria ⚠
p.Pro138Leu Single submitter ⚠
p.Pro139Ala Single submitter mevalonic aciduria ⚠
p.Pro139Leu Single submitter ⚠
p.Pro228Leu Single submitter ⚠
p.Pro258Ala Single submitter ⚠
p.Pro263Ser Single submitter ⚠
p.Pro375Leu Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Pro43Ser Single submitter Inborn genetic diseases ⚠
p.Pro83Ser Single submitter mevalonic aciduria ⚠
p.Ser128Ile Single submitter mevalonic aciduria ⚠
p.Ser135Ala Single submitter ⚠
p.Ser150Trp Single submitter ⚠
p.Ser222Thr Single submitter ⚠
p.Ser227Trp Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Ser267Ala Single submitter ⚠
p.Ser329Asn Single submitter mevalonic aciduria ⚠
p.Ser378Cys Single submitter mevalonic aciduria ⚠
p.Ser381Leu Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Ser384Cys Single submitter mevalonic aciduria ⚠
p.Ser45Asn Single submitter mevalonic aciduria ⚠
p.Ser45Lys Single submitter mevalonic aciduria
p.Ser52Ile Single submitter ⚠
p.Ser85Leu Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Thr178Ile Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Thr209Ile Single submitter mevalonic aciduria ⚠
p.Thr237Ala Single submitter mevalonic aciduria ⚠
p.Thr243Asn Single submitter mevalonic aciduria ⚠
p.Thr322Ser Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Thr342Ile Single submitter ⚠
p.Thr356Ala Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Thr356Lys Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Thr370Asn Single submitter ⚠
p.Thr370Ile Single submitter Inborn genetic diseases ⚠
p.Thr37Ile Single submitter mevalonic aciduria ⚠
p.Thr72Ile Single submitter Inborn genetic diseases ⚠
p.Thr82Ala Single submitter mevalonic aciduria ⚠
p.Trp134Cys Single submitter ⚠
p.Trp188Arg Single submitter Inborn genetic diseases ⚠
p.Trp188Gly Single submitter mevalonic aciduria ⚠
p.Trp210Arg Single submitter Inborn genetic diseases ⚠
p.Trp62Cys Single submitter autoinflammatory syndrome ⚠
p.Tyr216Phe Single submitter autoinflammatory syndrome ⚠
p.Tyr291Asp Single submitter mevalonic aciduria ⚠
p.Val133Gly Single submitter mevalonic aciduria ⚠
p.Val151Leu Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Val160Glu Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Val174Ile Single submitter mevalonic aciduria ⚠
p.Val174Phe Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Val22Leu Single submitter hyperimmunoglobulinemia D with periodic fever ⚠
p.Val247Gly Single submitter ⚠
p.Val278Leu Single submitter mevalonic aciduria ⚠
p.Val293Leu Single submitter mevalonic aciduria ⚠
p.Val310Ala Single submitter ⚠
p.Val321Met Single submitter porokeratosis 3, disseminated superficial actinic type ⚠
p.Val94Ile Single submitter mevalonic aciduria ⚠
p.Asp170Asn No assertion criteria inherited retinal dystrophy ⚠
p.Leu168_Asp170delinsHis No assertion criteria hyperimmunoglobulinemia D with periodic fever