CYP24A1 — 441 ClinVar variants

All ClinVar germline CYP24A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →

29 Pathogenic · 12 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 26 Conflicting · 60 Benign · 10 Benign/Likely benign · 76 Likely benign · 207 Uncertain significance

Full CYP24A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 183

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 agree, ClinVar conflicts 8

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

CYP24A1 p.Arg310Gln Conflicting Single submitter
Inborn genetic diseases
CYP24A1 p.Gly102Arg Conflicting Single submitter
CYP24A1 p.Gly232Glu Conflicting Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ile73Phe Conflicting Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Leu129Met Conflicting Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Lys178Arg Conflicting Single submitter
Inborn genetic diseases
CYP24A1 p.Met245Ile Conflicting Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Met99Thr Conflicting Single submitter
hypercalcemia, infantile, 1

Predictors lean, ClinVar uncertain 75

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CYP24A1 p.Ala510Thr Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Asp484Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Asp84Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Cys380Tyr Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Gly464Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Leu507Ile Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Leu86Val Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Met187Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Pro25Ala Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Ser8Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Thr272Ser Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Val218Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Val218Met Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Val457Ile Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Ala117Glu Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Ala12Pro Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Ala319Thr Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ala401Thr Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Arg159Pro Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg289Gln Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg39Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Arg39Leu Uncertain significance Single submitter
CYP24A1 p.Arg98Pro Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Asn180Ile Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Asn230His Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Asn230Ser Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Asn341Tyr Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Asp270Glu Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Cys113Gly Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Cys113Ser Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Cys462Tyr Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Cys512Tyr Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Gln156Lys Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Gln156Pro Uncertain significance Single submitter
CYP24A1 p.Gln37Leu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Glu192Gly Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Glu213Asp Uncertain significance Single submitter
CYP24A1 p.Glu406Gly Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Glu430Lys Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Glu506Asp Uncertain significance Single submitter
CYP24A1 p.Gly146Glu Uncertain significance Single submitter
CYP24A1 p.Gly456Arg Uncertain significance Single submitter
CYP24A1 p.His108Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.His108Gln Uncertain significance Single submitter
CYP24A1 p.His452Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.His497Pro Uncertain significance Single submitter
CYP24A1 p.Ile278Thr Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ile463Val Uncertain significance Single submitter
CYP24A1 p.Ile5Met Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ile96Asn Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Leu109Pro Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Leu115Met Uncertain significance Single submitter
CYP24A1 p.Leu147Pro Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Leu183Ser Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Leu263Pro Uncertain significance Single submitter
CYP24A1 p.Leu353Pro Uncertain significance Single submitter
CYP24A1 p.Lys209Arg Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Lys313Glu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Met99Lys Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Met99Val Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Phe429Leu Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Pro126Arg Uncertain significance Single submitter
CYP24A1 p.Pro126Ser Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Pro25Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Pro38Ser Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Pro392Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Pro437His Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ser123Asn Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Ser205Gly Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Thr34Lys Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Thr388Met Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Thr419Asn Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Thr419Ile Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Tyr204His Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Val320Ala Uncertain significance Single submitter
hypercalcemia, infantile, 1

Predictors split 100

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

CYP24A1 p.Ala368Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Arg120His Uncertain significance Multiple submitters
CYP24A1 p.Asp202His Benign/Likely benign Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Cys194Tyr Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Glu105Gln Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Glu122Asp Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Glu153Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Glu206Lys Likely benign Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Gly102Ala Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Gly412Glu Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Leu259Pro Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Leu302Phe Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Leu316Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Lys142Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Pro133Ala Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Pro375Leu Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Pro59Ser Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Thr330Met Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Thr34Met Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Tyr407Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CYP24A1 p.Val403Ile Uncertain significance Multiple submitters
hypercalcemia, infantile, 1
CYP24A1 p.Ala408Asp Conflicting Single submitter
Inborn genetic diseases
CYP24A1 p.Ala487Val Likely benign Single submitter
CYP24A1 p.Arg120Leu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg128Trp Uncertain significance Single submitter
CYP24A1 p.Arg157Gln Conflicting Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg157Gly Uncertain significance Single submitter
CYP24A1 p.Arg157Trp Conflicting Single submitter
CYP24A1-related disorder
CYP24A1 p.Arg19His Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg26Ser Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Arg289Trp Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg310Trp Conflicting Single submitter
Inborn genetic diseases
CYP24A1 p.Arg344His Benign Single submitter
CYP24A1 p.Arg367Gln Conflicting Single submitter
Inborn genetic diseases
CYP24A1 p.Arg439Cys Conflicting Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg439His Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg465Cys Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg465His Uncertain significance Single submitter
CYP24A1 p.Arg481Gly Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg505Gln Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg505Gly Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Arg505Trp Uncertain significance Single submitter
CYP24A1 p.Asn230Tyr Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Asn428Asp Uncertain significance Single submitter
CYP24A1 p.Asp191Tyr Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Asp287Asn Conflicting Single submitter
Inborn genetic diseases
CYP24A1 p.Asp287Glu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Asp489Glu Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Gln228Arg Uncertain significance Single submitter
CYP24A1 p.Gln420Pro Uncertain significance Single submitter
CYP24A1 p.Glu469Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Glu88Lys Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Gly250Glu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Gly250Trp Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Gly423Val Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Gly78Val Uncertain significance Single submitter
CYP24A1 p.His108Leu Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.His108Tyr Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.His497Arg Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.His83Gln Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ile215Val Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Ile485Val Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ile509Val Uncertain significance Single submitter
CYP24A1 p.Leu11Phe Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Leu18Met Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Leu203Trp Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Leu226Ile Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Leu501Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Leu71Arg Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Lys209Glu Uncertain significance Single submitter
CYP24A1 p.Lys280Ile Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Lys351Asn Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Lys444Glu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Phe224Leu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Pro169Thr Uncertain significance Single submitter
CYP24A1 p.Pro389Leu Likely pathogenic Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Pro410Ser Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Pro449His Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Pro454Leu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Pro45Gln Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Pro503Ala Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Pro503Leu Conflicting Single submitter
Inborn genetic diseases
CYP24A1 p.Pro59Leu Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ser123Arg Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Ser214Cys Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ser298Arg Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Ser433Ile Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Ser8Ile Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Thr248Met Conflicting Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Thr402Arg Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Thr413Lys Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Tyr119Cys Uncertain significance Single submitter
Inborn genetic diseases
CYP24A1 p.Tyr220Cys Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Tyr407Cys Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Val107Ala Uncertain significance Single submitter
CYP24A1 p.Val158Ala Conflicting Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Val200Ala Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Val200Ile Conflicting Single submitter
Inborn genetic diseases
CYP24A1 p.Val348Met Uncertain significance Single submitter
hypercalcemia, infantile, 1
CYP24A1 p.Val41Met Uncertain significance Single submitter
Inborn genetic diseases

All CYP24A1 variants

Pathogenic 29

p.Arg223Ter Multiple submitters hypercalcemia, infantile, 1
p.Arg466Ter Multiple submitters hypercalcemia, infantile, 1
p.Cys462fs Multiple submitters hypercalcemia, infantile, 1
p.Glu122Ter Multiple submitters hypercalcemia, infantile, 1
p.Glu143del Multiple submitters hypercalcemia, infantile, 1
p.Leu148Pro Multiple submitters hypercalcemia, infantile, 1
p.Ser334fs Multiple submitters hypercalcemia, infantile, 1
c.449+1G>T Single submitter
c.449+2T>C Single submitter
c.641-1G>A Single submitter hypercalcemia, infantile, 1
c.845-2A>G Single submitter hypercalcemia, infantile, 1
p.Asn341fs Single submitter
p.Gln347fs Single submitter
p.Gln37Ter Single submitter hypercalcemia, infantile, 1
p.Gln471fs Single submitter hypercalcemia, infantile, 1
p.Glu362Ter Single submitter
p.Gly225fs Single submitter hypercalcemia, infantile, 1
p.Ile447fs Single submitter hypercalcemia, infantile, 1
p.Lys164fs Single submitter
p.Lys400fs Single submitter
p.Phe104fs Single submitter
p.Pro392fs Single submitter
p.Thr500fs Single submitter
p.Trp268Ter Single submitter hypercalcemia, infantile, 1
p.Trp440Ter Single submitter hypercalcemia, infantile, 1
p.Trp75Ter Single submitter
p.Tyr93fs Single submitter
p.Cys477fs No assertion criteria hypercalcemia, infantile, 1
p.Glu151Ter No assertion criteria hypercalcemia, infantile, 1

Pathogenic/Likely pathogenic 12

p.Arg159Gln Multiple submitters hypercalcemia, infantile, 1
p.Arg159Trp Multiple submitters hypercalcemia, infantile, 1
p.Arg396Gln Multiple submitters hypercalcemia, infantile, 1
p.Arg396Trp Multiple submitters Renal tubulopathies
p.Gln347Ter Multiple submitters hypercalcemia, infantile, 1
p.Gln442Ter Multiple submitters hypercalcemia, infantile, 1
p.Glu322Lys Multiple submitters hypercalcemia, infantile, 1
p.Glu383Gln Multiple submitters hypercalcemia, infantile, 1
p.Leu227fs Multiple submitters hypercalcemia, infantile, 1
p.Leu409Ser Multiple submitters hypercalcemia, infantile, 1
p.Pro21fs Multiple submitters Inborn genetic diseases
p.Trp134Gly Multiple submitters Renal tubulopathies

Likely pathogenic 21

c.1157+2T>A Single submitter
c.1430_1434+11del Single submitter CYP24A1-related disorder
c.259-1G>A Single submitter
c.543+2T>A Single submitter hypercalcemia, infantile, 1
c.640+1G>A Single submitter hypercalcemia, infantile, 1
p.Cys113Ter Single submitter hypercalcemia, infantile, 1
p.Cys380Arg Single submitter hypercalcemia, infantile, 1
p.Gln442fs Single submitter hypercalcemia, infantile, 1
p.Glu196Ter Single submitter hypercalcemia, infantile, 1
p.Glu438Ter Single submitter hypercalcemia, infantile, 1
p.Gly78fs Single submitter hypercalcemia, infantile, 1
p.Lys229Ter Single submitter hypercalcemia, infantile, 1
p.Met253fs Single submitter hypercalcemia, infantile, 1
p.Pro389Leu Single submitter hypercalcemia, infantile, 1 ⚠
p.Ser111Ter Single submitter hypercalcemia, infantile, 1
p.Ser211Ter Single submitter hypercalcemia, infantile, 1
p.Ser281Ter Single submitter hypercalcemia, infantile, 1
p.Ser3fs Single submitter hypercalcemia, infantile, 1
p.Ser498Ter Single submitter hypercalcemia, infantile, 1
p.Tyr33_Thr34delinsTer Single submitter hypercalcemia, infantile, 1
p.Met1Ile No assertion criteria hypercalcemia, infantile, 1

Conflicting classifications of pathogenicity 26

c.259-5T>C Single submitter hypercalcemia, infantile, 1
c.640+15C>G Single submitter hypercalcemia, infantile, 1
c.732+7A>T Single submitter hypercalcemia, infantile, 1
p.Ala408Asp Single submitter Inborn genetic diseases ⚠
p.Ala451= Single submitter hypercalcemia, infantile, 1
p.Arg157Gln Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg157Trp Single submitter CYP24A1-related disorder ⚠
p.Arg310Gln Single submitter Inborn genetic diseases ⚠
p.Arg310Trp Single submitter Inborn genetic diseases ⚠
p.Arg367Gln Single submitter Inborn genetic diseases ⚠
p.Arg439Cys Single submitter hypercalcemia, infantile, 1 ⚠
p.Asp287Asn Single submitter Inborn genetic diseases ⚠
p.Gly102Arg Single submitter ⚠
p.Gly232Glu Single submitter hypercalcemia, infantile, 1 ⚠
p.Ile73Phe Single submitter hypercalcemia, infantile, 1 ⚠
p.Leu129Met Single submitter hypercalcemia, infantile, 1 ⚠
p.Lys178Arg Single submitter Inborn genetic diseases ⚠
p.Met245Ile Single submitter hypercalcemia, infantile, 1 ⚠
p.Met99Thr Single submitter hypercalcemia, infantile, 1 ⚠
p.Pro366= Single submitter hypercalcemia, infantile, 1
p.Pro503Leu Single submitter Inborn genetic diseases ⚠
p.Thr248Met Single submitter hypercalcemia, infantile, 1 ⚠
p.Thr388= Single submitter hypercalcemia, infantile, 1
p.Thr500= Single submitter hypercalcemia, infantile, 1
p.Val158Ala Single submitter hypercalcemia, infantile, 1 ⚠
p.Val200Ile Single submitter Inborn genetic diseases ⚠

Benign 60

c.1157+178G>A Multiple submitters
c.1158-180G>A Multiple submitters
c.1158-200C>T Multiple submitters
c.1236+24T>C Multiple submitters
c.1236+46T>C Multiple submitters
c.259-105G>C Multiple submitters
c.449+31G>A Multiple submitters
c.450-105A>G Multiple submitters
c.543+103T>C Multiple submitters
c.640+58A>G Multiple submitters
c.641-66A>C Multiple submitters
c.733-149C>G Multiple submitters
c.733-162A>G Multiple submitters
c.844+79T>C Multiple submitters
c.990+174G>A Multiple submitters
c.990+46C>A Multiple submitters
c.990+9G>A Multiple submitters hypercalcemia, infantile, 1
c.991-66T>C Multiple submitters
c.-154T>G Multiple submitters hypercalcemia, infantile, 1
c.-76C>T Multiple submitters hypercalcemia, infantile, 1
c.-94A>G Multiple submitters hypercalcemia, infantile, 1
c.*10+74A>G Multiple submitters
c.*140T>C Multiple submitters hypercalcemia, infantile, 1
c.*50C>T Multiple submitters hypercalcemia, infantile, 1
c.*715C>G Multiple submitters hypercalcemia, infantile, 1
p.Ala184= Multiple submitters hypercalcemia, infantile, 1
p.Ala510Val Multiple submitters hypercalcemia, infantile, 1
p.Ile509= Multiple submitters hypercalcemia, infantile, 1
p.Met374Thr Multiple submitters hypercalcemia, infantile, 1
p.Pro375= Multiple submitters hypercalcemia, infantile, 1
p.Thr248= Multiple submitters hypercalcemia, infantile, 1
c.1157+204C>T Single submitter
c.1236+146G>A Single submitter
c.1236+198T>C Single submitter
c.1435-14C>T Single submitter
c.1435-16T>C Single submitter
c.1435-20dup Single submitter
c.544-179A>G Single submitter
c.544-18C>T Single submitter
c.640+272T>C Single submitter
c.641-7A>G Single submitter
c.732+230T>C Single submitter
c.732+231G>A Single submitter
c.733-20G>T Single submitter
c.733-282dup Single submitter
c.990+295A>G Single submitter
c.990+44A>G Single submitter
c.991-112C>T Single submitter
c.991-289_991-286dup Single submitter
c.991-289_991-287dup Single submitter
c.991-289dup Single submitter
c.-400G>A Single submitter
c.*10+198A>G Single submitter
c.*438C>T Single submitter hypercalcemia, infantile, 1
c.*716G>A Single submitter hypercalcemia, infantile, 1
c.*77T>G Single submitter hypercalcemia, infantile, 1
c.*872C>T Single submitter hypercalcemia, infantile, 1
c.*885T>G Single submitter hypercalcemia, infantile, 1
p.Arg344His Single submitter ⚠
p.Glu192Asp Single submitter

Benign/Likely benign 10

c.-100T>C Multiple submitters hypercalcemia, infantile, 1
p.Arg157= Multiple submitters Inborn genetic diseases
p.Asp202His Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Cys303Ser Multiple submitters hypercalcemia, infantile, 1
p.Gly50= Multiple submitters hypercalcemia, infantile, 1
p.Gly78= Multiple submitters hypercalcemia, infantile, 1
p.Leu193Ile Multiple submitters hypercalcemia, infantile, 1
p.Pro126= Multiple submitters hypercalcemia, infantile, 1
p.Pro38= Multiple submitters hypercalcemia, infantile, 1
p.Tyr340= Multiple submitters hypercalcemia, infantile, 1

Likely benign 76

c.258+76A>G Multiple submitters
c.259-58C>T Multiple submitters
c.259-87T>G Multiple submitters
c.449+147C>T Multiple submitters
c.450-237T>C Multiple submitters
c.450-85G>T Multiple submitters
c.543+81A>T Multiple submitters
c.733-9T>C Multiple submitters hypercalcemia, infantile, 1
p.Arg251= Multiple submitters hypercalcemia, infantile, 1
p.Glu206Lys Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Leu147= Multiple submitters hypercalcemia, infantile, 1
p.Leu58= Multiple submitters hypercalcemia, infantile, 1
p.Pro361= Multiple submitters hypercalcemia, infantile, 1
p.Ser211= Multiple submitters
p.Thr31= Multiple submitters hypercalcemia, infantile, 1
c.1157+15C>T Single submitter
c.1157+9C>A Single submitter
c.1236+13T>C Single submitter
c.1236+18A>G Single submitter
c.1237-10A>G Single submitter
c.1237-13T>C Single submitter
c.1434+15G>A Single submitter
c.1434+16G>C Single submitter
c.1434+5A>C Single submitter
c.258+16C>T Single submitter
c.259-13C>G Single submitter
c.259-13C>T Single submitter
c.259-4G>T Single submitter
c.449+7C>A Single submitter
c.543+15G>A Single submitter
c.544-13_544-11del Single submitter
c.544-5del Single submitter
c.640+11_640+13del Single submitter
c.640+11G>A Single submitter
c.732+253A>G Single submitter
c.732+9C>A Single submitter
c.733-19G>A Single submitter
c.733-265del Single submitter
c.733-266del Single submitter
c.733-269_733-266del Single submitter
c.844+10C>T Single submitter
c.844+11G>A Single submitter
c.844+13C>T Single submitter
c.844+19C>T Single submitter
c.845-11T>C Single submitter
c.991-18T>C Single submitter
c.-353del Single submitter
p.Ala12= Single submitter
p.Ala13Thr Single submitter
p.Ala32= Single submitter
p.Ala48= Single submitter
p.Ala487Val Single submitter ⚠
p.Ala510= Single submitter
p.Cys477= Single submitter
p.Gly102= Single submitter
p.Gly412= Single submitter
p.Ile179= Single submitter
p.Ile286= Single submitter
p.Ile286Val Single submitter Inborn genetic diseases
p.Leu18= Single submitter
p.Leu371= Single submitter
p.Leu422= Single submitter
p.Leu86= Single submitter
p.Lys135= Single submitter
p.Lys261= Single submitter
p.Lys482= Single submitter
p.Phe14= Single submitter
p.Ser123= Single submitter
p.Ser498= Single submitter
p.Thr34= Single submitter
p.Thr397= Single submitter
p.Tyr317= Single submitter
p.Val257= Single submitter
p.Val43= Single submitter
c.-7del No assertion criteria CYP24A1-related disorder
p.Ala57= No assertion criteria CYP24A1-related disorder

Uncertain significance 207

c.259-5T>A Multiple submitters hypercalcemia, infantile, 1
c.544-17G>A Multiple submitters hypercalcemia, infantile, 1
c.-148T>C Multiple submitters hypercalcemia, infantile, 1
c.-37C>A Multiple submitters hypercalcemia, infantile, 1
p.Ala368Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala510Thr Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Arg120His Multiple submitters ⚠
p.Asp484Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp84Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys194Tyr Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Cys380Tyr Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Glu105Gln Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Glu122Asp Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Glu153Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly102Ala Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Gly412Glu Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Gly464Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu259Pro Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Leu302Phe Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Leu316Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu507Ile Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Leu86Val Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Lys142Arg Multiple submitters Inborn genetic diseases ⚠
p.Met187Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro133Ala Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Pro25Ala Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Pro375Leu Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Pro59Ser Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Ser8Gly Multiple submitters Inborn genetic diseases ⚠
p.Thr272Ser Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Thr330Met Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Thr34Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr407Asn Multiple submitters Inborn genetic diseases ⚠
p.Tyr483= Multiple submitters hypercalcemia, infantile, 1
p.Val218Leu Multiple submitters Inborn genetic diseases ⚠
p.Val218Met Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Val403Ile Multiple submitters hypercalcemia, infantile, 1 ⚠
p.Val457Ile Multiple submitters hypercalcemia, infantile, 1 ⚠
c.1157+5G>A Single submitter
c.1435-7A>G Single submitter hypercalcemia, infantile, 1
c.259-12G>A Single submitter
c.449+2dup Single submitter hypercalcemia, infantile, 1
c.449+5G>C Single submitter hypercalcemia, infantile, 1
c.450-12C>T Single submitter hypercalcemia, infantile, 1
c.845-2dup Single submitter hypercalcemia, infantile, 1
c.990+3A>G Single submitter hypercalcemia, infantile, 1
c.991-9G>A Single submitter hypercalcemia, infantile, 1
c.-112T>C Single submitter hypercalcemia, infantile, 1
c.-118T>C Single submitter hypercalcemia, infantile, 1
c.-135C>T Single submitter hypercalcemia, infantile, 1
c.-17C>T Single submitter hypercalcemia, infantile, 1
c.-307G>T Single submitter hypercalcemia, infantile, 1
c.-385G>A Single submitter hypercalcemia, infantile, 1
c.-50C>T Single submitter hypercalcemia, infantile, 1
c.*1014C>T Single submitter hypercalcemia, infantile, 1
c.*1091C>T Single submitter hypercalcemia, infantile, 1
c.*1095C>G Single submitter hypercalcemia, infantile, 1
c.*1122A>C Single submitter hypercalcemia, infantile, 1
c.*1135C>T Single submitter hypercalcemia, infantile, 1
c.*1288A>G Single submitter hypercalcemia, infantile, 1
c.*217A>G Single submitter hypercalcemia, infantile, 1
c.*244C>T Single submitter hypercalcemia, infantile, 1
c.*317T>C Single submitter hypercalcemia, infantile, 1
c.*375A>G Single submitter hypercalcemia, infantile, 1
c.*454G>A Single submitter hypercalcemia, infantile, 1
c.*4G>T Single submitter hypercalcemia, infantile, 1
c.*51G>A Single submitter hypercalcemia, infantile, 1
c.*525C>T Single submitter hypercalcemia, infantile, 1
c.*549A>T Single submitter hypercalcemia, infantile, 1
c.*748G>A Single submitter hypercalcemia, infantile, 1
c.*80A>G Single submitter hypercalcemia, infantile, 1
c.*838T>G Single submitter hypercalcemia, infantile, 1
c.*987T>C Single submitter hypercalcemia, infantile, 1
p.Ala117Glu Single submitter Inborn genetic diseases ⚠
p.Ala12Pro Single submitter Inborn genetic diseases ⚠
p.Ala319= Single submitter hypercalcemia, infantile, 1
p.Ala319Thr Single submitter hypercalcemia, infantile, 1 ⚠
p.Ala401Thr Single submitter Inborn genetic diseases ⚠
p.Arg120Leu Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg128Trp Single submitter ⚠
p.Arg157Gly Single submitter ⚠
p.Arg159Pro Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg19His Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg26Ser Single submitter Inborn genetic diseases ⚠
p.Arg289Gln Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg289Trp Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg39Gln Single submitter Inborn genetic diseases ⚠
p.Arg39Leu Single submitter ⚠
p.Arg439His Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg465Cys Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg465His Single submitter ⚠
p.Arg481Gly Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg505Gln Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg505Gly Single submitter hypercalcemia, infantile, 1 ⚠
p.Arg505Trp Single submitter ⚠
p.Arg514Ter Single submitter hypercalcemia, infantile, 1
p.Arg98Pro Single submitter Inborn genetic diseases ⚠
p.Asn180Ile Single submitter hypercalcemia, infantile, 1 ⚠
p.Asn230His Single submitter Inborn genetic diseases ⚠
p.Asn230Ser Single submitter hypercalcemia, infantile, 1 ⚠
p.Asn230Tyr Single submitter Inborn genetic diseases ⚠
p.Asn341Tyr Single submitter Inborn genetic diseases ⚠
p.Asn418= Single submitter hypercalcemia, infantile, 1
p.Asn428Asp Single submitter ⚠
p.Asp191Tyr Single submitter Inborn genetic diseases ⚠
p.Asp270Glu Single submitter Inborn genetic diseases ⚠
p.Asp287Glu Single submitter hypercalcemia, infantile, 1 ⚠
p.Asp489Glu Single submitter Inborn genetic diseases ⚠
p.Cys113Gly Single submitter Inborn genetic diseases ⚠
p.Cys113Ser Single submitter hypercalcemia, infantile, 1 ⚠
p.Cys462Tyr Single submitter hypercalcemia, infantile, 1 ⚠
p.Cys512Tyr Single submitter Inborn genetic diseases ⚠
p.Gln156Lys Single submitter Inborn genetic diseases ⚠
p.Gln156Pro Single submitter ⚠
p.Gln228Arg Single submitter ⚠
p.Gln37Leu Single submitter hypercalcemia, infantile, 1 ⚠
p.Gln420Pro Single submitter ⚠
p.Glu143Gly Single submitter hypercalcemia, infantile, 1
p.Glu192Gly Single submitter Inborn genetic diseases ⚠
p.Glu213Asp Single submitter ⚠
p.Glu406Gly Single submitter Inborn genetic diseases ⚠
p.Glu430Lys Single submitter Inborn genetic diseases ⚠
p.Glu469Gln Single submitter Inborn genetic diseases ⚠
p.Glu506Asp Single submitter ⚠
p.Glu88Lys Single submitter hypercalcemia, infantile, 1 ⚠
p.Gly146Glu Single submitter ⚠
p.Gly170_Glu171del Single submitter
p.Gly250Glu Single submitter hypercalcemia, infantile, 1 ⚠
p.Gly250Trp Single submitter hypercalcemia, infantile, 1 ⚠
p.Gly423Val Single submitter hypercalcemia, infantile, 1 ⚠
p.Gly456Arg Single submitter ⚠
p.Gly78Val Single submitter ⚠
p.His108Arg Single submitter Inborn genetic diseases ⚠
p.His108Gln Single submitter ⚠
p.His108Leu Single submitter Inborn genetic diseases ⚠
p.His108Tyr Single submitter hypercalcemia, infantile, 1 ⚠
p.His452Arg Single submitter Inborn genetic diseases ⚠
p.His497Arg Single submitter hypercalcemia, infantile, 1 ⚠
p.His497Pro Single submitter ⚠
p.His83Gln Single submitter hypercalcemia, infantile, 1 ⚠
p.Ile215Val Single submitter Inborn genetic diseases ⚠
p.Ile278Thr Single submitter hypercalcemia, infantile, 1 ⚠
p.Ile463Val Single submitter ⚠
p.Ile485Val Single submitter hypercalcemia, infantile, 1 ⚠
p.Ile509Val Single submitter ⚠
p.Ile5Met Single submitter hypercalcemia, infantile, 1 ⚠
p.Ile96Asn Single submitter hypercalcemia, infantile, 1 ⚠
p.Leu109Pro Single submitter Inborn genetic diseases ⚠
p.Leu115Met Single submitter ⚠
p.Leu11Phe Single submitter hypercalcemia, infantile, 1 ⚠
p.Leu147Pro Single submitter hypercalcemia, infantile, 1 ⚠
p.Leu183Ser Single submitter hypercalcemia, infantile, 1 ⚠
p.Leu18Met Single submitter hypercalcemia, infantile, 1 ⚠
p.Leu203Trp Single submitter hypercalcemia, infantile, 1 ⚠
p.Leu226Ile Single submitter Inborn genetic diseases ⚠
p.Leu263Pro Single submitter ⚠
p.Leu353Pro Single submitter ⚠
p.Leu501Gln Single submitter Inborn genetic diseases ⚠
p.Leu71Arg Single submitter hypercalcemia, infantile, 1 ⚠
p.Lys209Arg Single submitter hypercalcemia, infantile, 1 ⚠
p.Lys209Glu Single submitter ⚠
p.Lys280Ile Single submitter Inborn genetic diseases ⚠
p.Lys313Glu Single submitter hypercalcemia, infantile, 1 ⚠
p.Lys351= Single submitter hypercalcemia, infantile, 1
p.Lys351Asn Single submitter hypercalcemia, infantile, 1 ⚠
p.Lys444Glu Single submitter hypercalcemia, infantile, 1 ⚠
p.Met99Lys Single submitter hypercalcemia, infantile, 1 ⚠
p.Met99Val Single submitter hypercalcemia, infantile, 1 ⚠
p.Phe224Leu Single submitter hypercalcemia, infantile, 1 ⚠
p.Phe429Leu Single submitter Inborn genetic diseases ⚠
p.Pro126Arg Single submitter ⚠
p.Pro126Ser Single submitter hypercalcemia, infantile, 1 ⚠
p.Pro169Thr Single submitter ⚠
p.Pro25Gln Single submitter Inborn genetic diseases ⚠
p.Pro38Ser Single submitter hypercalcemia, infantile, 1 ⚠
p.Pro392Arg Single submitter Inborn genetic diseases ⚠
p.Pro410Ser Single submitter hypercalcemia, infantile, 1 ⚠
p.Pro437His Single submitter hypercalcemia, infantile, 1 ⚠
p.Pro449His Single submitter Inborn genetic diseases ⚠
p.Pro454Leu Single submitter hypercalcemia, infantile, 1 ⚠
p.Pro45Gln Single submitter Inborn genetic diseases ⚠
p.Pro503Ala Single submitter hypercalcemia, infantile, 1 ⚠
p.Pro59Leu Single submitter hypercalcemia, infantile, 1 ⚠
p.Ser123Arg Single submitter Inborn genetic diseases ⚠
p.Ser123Asn Single submitter Inborn genetic diseases ⚠
p.Ser205Gly Single submitter Inborn genetic diseases ⚠
p.Ser214Cys Single submitter hypercalcemia, infantile, 1 ⚠
p.Ser298Arg Single submitter hypercalcemia, infantile, 1 ⚠
p.Ser433Ile Single submitter Inborn genetic diseases ⚠
p.Ser8Ile Single submitter hypercalcemia, infantile, 1 ⚠
p.Thr34Lys Single submitter hypercalcemia, infantile, 1 ⚠
p.Thr388Met Single submitter hypercalcemia, infantile, 1 ⚠
p.Thr402Arg Single submitter hypercalcemia, infantile, 1 ⚠
p.Thr413Lys Single submitter hypercalcemia, infantile, 1 ⚠
p.Thr419Asn Single submitter hypercalcemia, infantile, 1 ⚠
p.Thr419Ile Single submitter Inborn genetic diseases ⚠
p.Tyr119Cys Single submitter Inborn genetic diseases ⚠
p.Tyr204His Single submitter Inborn genetic diseases ⚠
p.Tyr220Cys Single submitter hypercalcemia, infantile, 1 ⚠
p.Tyr407Cys Single submitter hypercalcemia, infantile, 1 ⚠
p.Val107Ala Single submitter ⚠
p.Val200Ala Single submitter hypercalcemia, infantile, 1 ⚠
p.Val320Ala Single submitter hypercalcemia, infantile, 1 ⚠
p.Val348Met Single submitter hypercalcemia, infantile, 1 ⚠
p.Val41Met Single submitter Inborn genetic diseases ⚠
c.259-2A>G No assertion criteria
p.Tyr125Ter No assertion criteria