CYP2R1 — 265 ClinVar variants
All ClinVar germline CYP2R1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →
11 Pathogenic · 10 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 5 Conflicting · 5 Benign · 6 Benign/Likely benign · 76 Likely benign · 146 Uncertain significance
Full CYP2R1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 129
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CYP2R1 p.Asn166Ser
Conflicting
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Ile169Val
Conflicting
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Trp2Arg Conflicting Single submitter
Predictors lean, ClinVar uncertain 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CYP2R1 p.Ala221Thr
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Ala433Gly
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Arg248Ser Uncertain significance Multiple submitters
-
CYP2R1 p.Asn317Ser
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Gly38Ser
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Gly450Arg
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Gly91Asp
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.His381Arg Uncertain significance Multiple submitters
-
CYP2R1 p.Ile194Met
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Ile332Thr
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Ile394Thr
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Leu193Met
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Leu79Ile Uncertain significance Multiple submitters
-
CYP2R1 p.Met118Val
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Met284Ile
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Phe432Ser
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Phe441Ser Uncertain significance Multiple submitters
-
CYP2R1 p.Ser156Cys
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Ser85Pro
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Trp5Ser Uncertain significance Multiple submitters
-
CYP2R1 p.Tyr431His
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Val141Ile
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Val389Glu
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Ala11Val Uncertain significance Single submitter
- CYP2R1 p.Ala12Val Uncertain significance Single submitter
-
CYP2R1 p.Ala363Thr
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Ala57Ser Uncertain significance Single submitter
- CYP2R1 p.Arg109Gly Uncertain significance Single submitter
- CYP2R1 p.Arg131Gln Uncertain significance Single submitter
- CYP2R1 p.Arg28Cys Uncertain significance Single submitter
-
CYP2R1 p.Arg445Gly
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Arg468Ser
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Arg67Gly
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Arg67Lys Uncertain significance Single submitter
- CYP2R1 p.Arg6Thr Uncertain significance Single submitter
-
CYP2R1 p.Asn217Asp
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Asp354Asn Uncertain significance Single submitter
- CYP2R1 p.Cys372Ser Uncertain significance Single submitter
- CYP2R1 p.Cys448Arg Uncertain significance Single submitter
-
CYP2R1 p.Gln102His
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Gln286His
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Gln335Arg
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Gln337His Uncertain significance Single submitter
- CYP2R1 p.Glu104Lys Uncertain significance Single submitter
- CYP2R1 p.Glu298Asp Uncertain significance Single submitter
- CYP2R1 p.Glu60Gln Uncertain significance Single submitter
- CYP2R1 p.Glu8Lys Uncertain significance Single submitter
-
CYP2R1 p.Glu97Gly
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Gly132Glu
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Gly26Ala Uncertain significance Single submitter
- CYP2R1 p.Gly287Ser Uncertain significance Single submitter
-
CYP2R1 p.Gly82Glu
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.His366Arg Uncertain significance Single submitter
-
CYP2R1 p.His470Asn
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.His475Arg Uncertain significance Single submitter
- CYP2R1 p.Ile261Asn Uncertain significance Single submitter
-
CYP2R1 p.Leu124Ser
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Leu14Val Uncertain significance Single submitter
- CYP2R1 p.Leu193Val Uncertain significance Single submitter
- CYP2R1 p.Leu20Val Uncertain significance Single submitter
-
CYP2R1 p.Leu272Pro
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Leu300Arg Uncertain significance Single submitter
-
CYP2R1 p.Leu453Trp
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Leu466Pro Uncertain significance Single submitter
- CYP2R1 p.Leu4Arg Uncertain significance Single submitter
- CYP2R1 p.Leu4Phe Uncertain significance Single submitter
- CYP2R1 p.Leu55Val Uncertain significance Single submitter
-
CYP2R1 p.Lys173Arg
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Lys269Arg Uncertain significance Single submitter
- CYP2R1 p.Lys434Arg Uncertain significance Single submitter
- CYP2R1 p.Lys435Glu Uncertain significance Single submitter
-
CYP2R1 p.Met210Val
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Met284Val Uncertain significance Single submitter
- CYP2R1 p.Met344Thr Uncertain significance Single submitter
- CYP2R1 p.Met37Thr Uncertain significance Single submitter
-
CYP2R1 p.Phe165Leu
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Phe23Leu Uncertain significance Single submitter
-
CYP2R1 p.Phe325Ser
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Pro359Ser
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Pro376Ser Uncertain significance Single submitter
-
CYP2R1 p.Pro493Thr
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Ser384Cys Uncertain significance Single submitter
- CYP2R1 p.Ser393Phe Uncertain significance Single submitter
- CYP2R1 p.Ser78Asn Uncertain significance Single submitter
- CYP2R1 p.Thr383Ile Uncertain significance Single submitter
- CYP2R1 p.Thr399Arg Uncertain significance Single submitter
-
CYP2R1 p.Trp5Gly
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Tyr149His Uncertain significance Single submitter
- CYP2R1 p.Tyr172Cys Uncertain significance Single submitter
- CYP2R1 p.Tyr405Phe Uncertain significance Single submitter
-
CYP2R1 p.Tyr431Asp
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Val187Ile
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Val478Leu
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Ala363Pro
Uncertain significance
No assertion criteria
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Leu465Trp
Uncertain significance
No assertion criteria
Decreased circulating calcitriol concentration
Predictors split 31
The independent predictors disagree with each other — read with care.
-
CYP2R1 p.Ala24Pro
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Arg320Trp
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Arg455Gln
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Arg455Trp
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Asp427Gly Uncertain significance Multiple submitters
-
CYP2R1 p.Pro36Leu
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Pro41Ala
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Pro41Thr
Uncertain significance
Multiple submitters
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Thr184Met Uncertain significance Multiple submitters
-
CYP2R1 p.Arg34Trp
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Arg390Cys Uncertain significance Single submitter
-
CYP2R1 p.Arg424Gln
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Asn230Asp
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Cys372Phe
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Glu411Gly Uncertain significance Single submitter
- CYP2R1 p.Glu451Lys Uncertain significance Single submitter
- CYP2R1 p.Glu476Val Uncertain significance Single submitter
-
CYP2R1 p.Gly148Val
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Gly38Val
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Ile496Met
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
-
CYP2R1 p.Lys412Glu
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Lys68Thr Uncertain significance Single submitter
- CYP2R1 p.Phe39Leu Uncertain significance Single submitter
- CYP2R1 p.Pro176Arg Uncertain significance Single submitter
-
CYP2R1 p.Pro479Ala
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Pro479Gln Uncertain significance Single submitter
- CYP2R1 p.Pro493Arg Uncertain significance Single submitter
-
CYP2R1 p.Pro62Ser
Uncertain significance
Single submitter
vitamin D hydroxylation-deficient rickets, type 1B
- CYP2R1 p.Thr383Ala Likely benign Single submitter
- CYP2R1 p.Trp352Arg Uncertain significance Single submitter
- CYP2R1 p.Tyr92Cys Uncertain significance Single submitter
All CYP2R1 variants
Pathogenic 11
- p.Arg131Ter Multiple submitters
- p.Leu257fs Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Cys98Ter Single submitter
- p.Gln245Ter Single submitter
- p.Leu46fs Single submitter
- p.Pro291fs Single submitter
- p.Pro41fs Single submitter
- p.Ser85Ter Single submitter
- p.Thr294_Phe295insTer Single submitter
- p.Trp234Ter Single submitter
- p.Trp5Ter Single submitter
Pathogenic/Likely pathogenic 10
- c.367+1G>A Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Arg145Ter Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Arg199Ter Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Glu97Ter Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Ile374fs Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Leu14fs Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Leu30fs Multiple submitters
- p.Leu99Pro Multiple submitters CYP2R1-related disorders
- p.Met210fs Multiple submitters CYP2R1-related disorders
- p.Tyr73Ter Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
Likely pathogenic 6
- c.1000+1G>A Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- c.226-1G>T Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Arg138Ter Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.His243fs Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Leu139Ter Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Ser188Ter Single submitter vitamin D hydroxylation-deficient rickets, type 1B
Conflicting classifications of pathogenicity 5
- p.Arg424Ter Single submitter
- p.Asn166Ser Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ile169Val Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Met284Thr Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Trp2Arg Single submitter ⚠
Benign 5
- p.Ser59= Multiple submitters pulmonary disease, chronic obstructive, susceptibility to
- c.1330+16C>T Single submitter
- c.225+396T>C Single submitter
- c.368-4del Single submitter
- c.368-4dup Single submitter
Benign/Likely benign 6
- c.225+10C>T Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- c.368-12A>T Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Asn217= Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Asp353= Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Leu125= Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Leu426= Multiple submitters
Likely benign 76
- c.1001-5G>C Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- c.1330+17G>A Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- c.225+110C>G Multiple submitters
- p.Gly10Ala Multiple submitters
- p.Leu460= Multiple submitters
- p.Pro291= Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Pro359= Multiple submitters
- p.Ser103= Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- c.1000+17T>C Single submitter
- c.1000+18_1000+20del Single submitter
- c.1000+187T>A Single submitter
- c.1001-18A>G Single submitter
- c.1001-20G>A Single submitter
- c.1001-9C>G Single submitter
- c.1330+16C>A Single submitter
- c.1330+20G>C Single submitter
- c.1331-19A>G Single submitter
- c.225+11G>A Single submitter
- c.225+14G>A Single submitter
- c.225+17C>T Single submitter
- c.225+18C>T Single submitter
- c.225+20C>T Single submitter
- c.226-10C>G Single submitter
- c.226-10C>T Single submitter
- c.226-12C>T Single submitter
- c.226-16T>C Single submitter
- c.226-9_226-5del Single submitter
- c.367+14C>T Single submitter
- c.367+16C>A Single submitter
- c.368-122A>G Single submitter
- p.Ala12= Single submitter
- p.Ala322= Single submitter
- p.Ala327= Single submitter
- p.Ala382= Single submitter
- p.Arg390= Single submitter
- p.Arg484= Single submitter
- p.Arg500= Single submitter
- p.Asn299= Single submitter
- p.Asn331= Single submitter
- p.Asp278= Single submitter
- p.Gly123= Single submitter
- p.Gly26= Single submitter
- p.Gly287= Single submitter
- p.Gly42= Single submitter
- p.His447= Single submitter
- p.Ile183= Single submitter
- p.Ile237= Single submitter
- p.Ile401= Single submitter
- p.Leu18= Single submitter
- p.Leu21= Single submitter
- p.Leu22= Single submitter
- p.Leu272= Single submitter
- p.Leu319= Single submitter
- p.Leu466= Single submitter
- p.Leu55= Single submitter
- p.Leu79= Single submitter
- p.Lys269= Single submitter
- p.Phe295= Single submitter
- p.Pro233= Single submitter
- p.Pro47= Single submitter
- p.Pro483= Single submitter
- p.Pro493= Single submitter
- p.Pro62= Single submitter
- p.Ser54= Single submitter
- p.Thr184= Single submitter
- p.Thr205= Single submitter
- p.Thr383Ala Single submitter ⚠
- p.Thr402= Single submitter
- p.Tyr202= Single submitter
- p.Tyr494= Single submitter
- p.Val141= Single submitter
- p.Val266= Single submitter
- p.Val478= Single submitter
- p.Val64= Single submitter
- p.Val87= Single submitter
- p.Gly15= No assertion criteria CYP2R1-related disorder
Uncertain significance 146
- c.1331-1G>A Multiple submitters
- p.Ala221Thr Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ala24Pro Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ala322Val Multiple submitters
- p.Ala433Gly Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg248Ser Multiple submitters ⚠
- p.Arg320Trp Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg455Gln Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg455Trp Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg500Ter Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B
- p.Asn317Ser Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Asp427Gly Multiple submitters ⚠
- p.Gly38Ser Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gly450Arg Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gly91Asp Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.His381Arg Multiple submitters ⚠
- p.Ile194Met Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ile332Thr Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ile394Thr Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Leu193Met Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Leu79Ile Multiple submitters ⚠
- p.Met118Val Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Met284Ile Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Phe432Ser Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Phe441Ser Multiple submitters ⚠
- p.Pro36Leu Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Pro41Ala Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Pro41Thr Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ser156Cys Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ser85Pro Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Thr184Met Multiple submitters ⚠
- p.Thr402Ile Multiple submitters
- p.Trp5Ser Multiple submitters ⚠
- p.Tyr431His Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Val141Ile Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Val389Glu Multiple submitters vitamin D hydroxylation-deficient rickets, type 1B ⚠
- c.225+1078del Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- c.225+5A>G Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- c.-2C>G Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.40PPG[1] Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Ala11Val Single submitter ⚠
- p.Ala12Val Single submitter ⚠
- p.Ala363Thr Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ala57Ser Single submitter ⚠
- p.Arg109Gly Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg175= Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Arg28Cys Single submitter ⚠
- p.Arg34Trp Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg390Cys Single submitter ⚠
- p.Arg424Gln Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg445Gly Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg468Ser Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg67Gly Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Arg67Lys Single submitter ⚠
- p.Arg6Thr Single submitter ⚠
- p.Asn217Asp Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Asn230Asp Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Asp354Asn Single submitter ⚠
- p.Cys372Phe Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Cys372Ser Single submitter ⚠
- p.Cys448Arg Single submitter ⚠
- p.Gln102His Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gln286His Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gln335Arg Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gln337His Single submitter ⚠
- p.Glu104Lys Single submitter ⚠
- p.Glu298Asp Single submitter ⚠
- p.Glu411Gly Single submitter ⚠
- p.Glu451Lys Single submitter ⚠
- p.Glu476Val Single submitter ⚠
- p.Glu60Gln Single submitter ⚠
- p.Glu8Lys Single submitter ⚠
- p.Glu97Gly Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gly132Glu Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gly148Val Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gly26Ala Single submitter ⚠
- p.Gly287Ser Single submitter ⚠
- p.Gly305Ser Single submitter
- p.Gly38Val Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gly42_Leu46delinsArg Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Gly45_Pro47del Single submitter
- p.Gly82Glu Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Gly83Arg Single submitter
- p.His243Tyr Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.His366Arg Single submitter ⚠
- p.His470Asn Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.His475Arg Single submitter ⚠
- p.Ile261Asn Single submitter ⚠
- p.Ile496Met Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Leu124Ser Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Leu14Val Single submitter ⚠
- p.Leu193Val Single submitter ⚠
- p.Leu20Pro Single submitter
- p.Leu20Val Single submitter ⚠
- p.Leu272Pro Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Leu300Arg Single submitter ⚠
- p.Leu453Trp Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Leu466Pro Single submitter ⚠
- p.Leu4Arg Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Leu55Val Single submitter ⚠
- p.Lys173Arg Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Lys269Arg Single submitter ⚠
- p.Lys412Glu Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Lys434= Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Lys434Arg Single submitter ⚠
- p.Lys435Glu Single submitter ⚠
- p.Lys68Thr Single submitter ⚠
- p.Met1Leu Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Met210Val Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Met284Val Single submitter ⚠
- p.Met344Thr Single submitter ⚠
- p.Met37Thr Single submitter ⚠
- p.Phe165Leu Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Phe227del Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Phe23Leu Single submitter ⚠
- p.Phe325Ser Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Phe39Leu Single submitter ⚠
- p.Pro176Arg Single submitter ⚠
- p.Pro359Ser Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Pro376Ser Single submitter ⚠
- p.Pro479Ala Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Pro479Gln Single submitter ⚠
- p.Pro493Arg Single submitter ⚠
- p.Pro493Thr Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Pro62Ser Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ser384Cys Single submitter ⚠
- p.Ser393Phe Single submitter ⚠
- p.Ser78Asn Single submitter ⚠
- p.Thr383Ile Single submitter ⚠
- p.Thr399Arg Single submitter ⚠
- p.Trp352Arg Single submitter ⚠
- p.Trp5Gly Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Tyr149His Single submitter ⚠
- p.Tyr172Cys Single submitter ⚠
- p.Tyr405Phe Single submitter ⚠
- p.Tyr431Asp Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Tyr92Cys Single submitter ⚠
- p.Val187Ile Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Val253= Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Val318Gly Single submitter vitamin D hydroxylation-deficient rickets, type 1B
- p.Val400Leu Single submitter
- p.Val478Leu Single submitter vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Ala363Pro No assertion criteria vitamin D hydroxylation-deficient rickets, type 1B ⚠
- p.Leu465Trp No assertion criteria Decreased circulating calcitriol concentration ⚠