KL — 562 ClinVar variants
All ClinVar germline KL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 298 flagged for review →
1 Likely pathogenic · 19 Conflicting · 33 Benign · 13 Benign/Likely benign · 130 Likely benign · 366 Uncertain significance
Full KL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 298
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KL p.Arg171Ser
Conflicting
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Arg649Cys
Conflicting
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Asn304Ser
Conflicting
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Asp876Asn
Conflicting
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Glu625Lys
Conflicting
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.His193Arg
Conflicting
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Val331Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 239
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 239
- KL p.Ala3Thr Uncertain significance Multiple submitters
- KL p.Ala50Val Uncertain significance Multiple submitters
- KL p.Ala656Thr Uncertain significance Multiple submitters
- KL p.Ala663Thr Uncertain significance Multiple submitters
-
KL p.Ala987Thr
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Arg181Gln Uncertain significance Multiple submitters
- KL p.Arg252His Uncertain significance Multiple submitters
- KL p.Arg387Cys Uncertain significance Multiple submitters
- KL p.Arg628His Uncertain significance Multiple submitters
- KL p.Arg671Gln Uncertain significance Multiple submitters
-
KL p.Arg751Gly
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Arg920Cys Uncertain significance Multiple submitters
- KL p.Arg929His Uncertain significance Multiple submitters
- KL p.Arg979Gln Uncertain significance Multiple submitters
-
KL p.Asn159Ser
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Asn166Ser
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Asn393Asp Uncertain significance Multiple submitters
-
KL p.Asn857Lys
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Asp103Val Uncertain significance Multiple submitters
- KL p.Asp745Val Uncertain significance Multiple submitters
- KL p.Asp865His Uncertain significance Multiple submitters
- KL p.Gln293Glu Uncertain significance Multiple submitters
- KL p.Gln645Glu Uncertain significance Multiple submitters
-
KL p.Glu315Gly
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Glu465Lys Uncertain significance Multiple submitters
- KL p.Glu625Gln Uncertain significance Multiple submitters
-
KL p.Gly766Arg
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Gly84Cys Uncertain significance Multiple submitters
- KL p.Gly864Arg Uncertain significance Multiple submitters
-
KL p.Gly86Asp
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Gly878Arg Uncertain significance Multiple submitters
- KL p.His83Tyr Uncertain significance Multiple submitters
- KL p.His880Arg Uncertain significance Multiple submitters
-
KL p.Leu369Val
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Leu683Ile Uncertain significance Multiple submitters
- KL p.Leu813Pro Uncertain significance Multiple submitters
-
KL p.Leu927Phe
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Leu999Ile
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Lys85Arg
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Lys942Gln Uncertain significance Multiple submitters
- KL p.Met384Thr Uncertain significance Multiple submitters
-
KL p.Met588Ile
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Phe133Tyr
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Phe519Leu
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Phe990Ser Uncertain significance Multiple submitters
-
KL p.Pro187Leu
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Pro187Ser Uncertain significance Multiple submitters
- KL p.Pro261Leu Uncertain significance Multiple submitters
-
KL p.Pro2Ser
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Pro604His
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Ser319Phe
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Ser554Gly Uncertain significance Multiple submitters
-
KL p.Thr686Met
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Trp194Ser Uncertain significance Multiple submitters
-
KL p.Trp838Ser
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Trp858Arg
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Val323Ile
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Val681Ile Uncertain significance Multiple submitters
- KL p.Ala107Ser Uncertain significance Single submitter
- KL p.Ala113Ser Uncertain significance Single submitter
- KL p.Ala162Val Uncertain significance Single submitter
- KL p.Ala203Val Uncertain significance Single submitter
- KL p.Ala244Ser Uncertain significance Single submitter
- KL p.Ala249Thr Uncertain significance Single submitter
- KL p.Ala254Val Uncertain significance Single submitter
-
KL p.Ala268Thr
Uncertain significance
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Ala274Val Uncertain significance Single submitter
- KL p.Ala297Thr Uncertain significance Single submitter
- KL p.Ala3Ser Uncertain significance Single submitter
- KL p.Ala54Val Uncertain significance Single submitter
- KL p.Ala576Ser Uncertain significance Single submitter
- KL p.Ala576Thr Uncertain significance Single submitter
- KL p.Ala577Gly Uncertain significance Single submitter
- KL p.Ala583Ser Uncertain significance Single submitter
- KL p.Ala663Ser Uncertain significance Single submitter
- KL p.Ala665Asp Uncertain significance Single submitter
- KL p.Ala68Ser Uncertain significance Single submitter
- KL p.Ala72Ser Uncertain significance Single submitter
- KL p.Ala749Ser Uncertain significance Single submitter
- KL p.Ala931Ser Uncertain significance Single submitter
- KL p.Ala939Val Uncertain significance Single submitter
- KL p.Ala99Pro Uncertain significance Single submitter
- KL p.Arg1009Lys Uncertain significance Single submitter
- KL p.Arg140His Uncertain significance Single submitter
- KL p.Arg179Gln Uncertain significance Single submitter
- KL p.Arg181Gly Uncertain significance Single submitter
- KL p.Arg199Pro Uncertain significance Single submitter
- KL p.Arg258Trp Uncertain significance Single submitter
- KL p.Arg287His Uncertain significance Single submitter
- KL p.Arg287Ser Uncertain significance Single submitter
- KL p.Arg44Pro Uncertain significance Single submitter
- KL p.Arg47Pro Uncertain significance Single submitter
- KL p.Arg556Lys Uncertain significance Single submitter
- KL p.Arg594Leu Uncertain significance Single submitter
- KL p.Arg649His Uncertain significance Single submitter
- KL p.Arg653Gly Uncertain significance Single submitter
- KL p.Arg671Leu Uncertain significance Single submitter
- KL p.Arg853Gly Uncertain significance Single submitter
- KL p.Asn106His Uncertain significance Single submitter
- KL p.Asn106Ser Uncertain significance Single submitter
- KL p.Asn393Ser Uncertain significance Single submitter
- KL p.Asn607Asp Uncertain significance Single submitter
- KL p.Asn825Ser Uncertain significance Single submitter
- KL p.Asn873Lys Uncertain significance Single submitter
- KL p.Asn896His Uncertain significance Single submitter
- KL p.Asn908Ser Uncertain significance Single submitter
- KL p.Asp127Asn Uncertain significance Single submitter
- KL p.Asp310Asn Uncertain significance Single submitter
- KL p.Asp402Tyr Uncertain significance Single submitter
- KL p.Asp402Val Uncertain significance Single submitter
- KL p.Asp776Gly Uncertain significance Single submitter
- KL p.Asp883His Uncertain significance Single submitter
- KL p.Asp933Gly Uncertain significance Single submitter
- KL p.Gln317Lys Uncertain significance Single submitter
- KL p.Gln40His Uncertain significance Single submitter
- KL p.Gln586Arg Uncertain significance Single submitter
- KL p.Gln934His Uncertain significance Single submitter
- KL p.Glu354Gly Uncertain significance Single submitter
- KL p.Glu52Ala Uncertain significance Single submitter
- KL p.Glu736Gly Uncertain significance Single submitter
- KL p.Glu747Lys Uncertain significance Single submitter
- KL p.Glu793Asp Uncertain significance Single submitter
- KL p.Glu793Gly Uncertain significance Single submitter
- KL p.Glu897Gly Uncertain significance Single submitter
- KL p.Glu960Val Uncertain significance Single submitter
- KL p.Gly1007Asp Uncertain significance Single submitter
- KL p.Gly102Arg Uncertain significance Single submitter
- KL p.Gly112Ala Uncertain significance Single submitter
- KL p.Gly122Arg Uncertain significance Single submitter
- KL p.Gly229Arg Uncertain significance Single submitter
- KL p.Gly27Asp Uncertain significance Single submitter
-
KL p.Gly292Val
Uncertain significance
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Gly325Val
Uncertain significance
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Gly64Asp
Uncertain significance
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Gly766Ala Uncertain significance Single submitter
- KL p.Gly766Cys Uncertain significance Single submitter
- KL p.Gly84Asp Uncertain significance Single submitter
- KL p.Gly906Asp Uncertain significance Single submitter
- KL p.His193Asn Uncertain significance Single submitter
- KL p.His215Arg Uncertain significance Single submitter
- KL p.His215Tyr Uncertain significance Single submitter
- KL p.His407Arg Uncertain significance Single submitter
- KL p.His552Pro Uncertain significance Single submitter
- KL p.His589Asn Uncertain significance Single submitter
- KL p.His589Pro Uncertain significance Single submitter
- KL p.His592Arg Uncertain significance Single submitter
- KL p.His613Asn Uncertain significance Single submitter
- KL p.His977Tyr Uncertain significance Single submitter
- KL p.Ile1000Leu Uncertain significance Single submitter
- KL p.Ile1000Thr Uncertain significance Single submitter
Predictors split 52
The independent predictors disagree with each other — read with care.
-
KL p.Arg179Trp
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Arg199Cys
Benign/Likely benign
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Arg594Cys
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Arg620Cys
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
-
KL p.Arg628Cys
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Asn723Ile Uncertain significance Multiple submitters
- KL p.Leu603Val Uncertain significance Multiple submitters
-
KL p.Pro690Leu
Uncertain significance
Multiple submitters
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Ala213Asp Uncertain significance Single submitter
- KL p.Arg140Cys Uncertain significance Single submitter
- KL p.Arg171Cys Uncertain significance Single submitter
- KL p.Arg44Cys Uncertain significance Single submitter
- KL p.Arg474Cys Uncertain significance Single submitter
- KL p.Arg781Gly Uncertain significance Single submitter
- KL p.Arg8Cys Uncertain significance Single submitter
- KL p.Asn283Ser Uncertain significance Single submitter
- KL p.Asn715Ser Uncertain significance Single submitter
- KL p.Asp135Tyr Uncertain significance Single submitter
- KL p.Cys572Trp Uncertain significance Single submitter
- KL p.Gln388Lys Uncertain significance Single submitter
- KL p.Glu390Gly Uncertain significance Single submitter
- KL p.Glu414Gly Uncertain significance Single submitter
- KL p.Gly160Ser Uncertain significance Single submitter
- KL p.Gly184Ser Uncertain significance Single submitter
- KL p.Gly205Arg Uncertain significance Single submitter
-
KL p.Gly205Asp
Conflicting
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Gly264Arg Uncertain significance Single submitter
- KL p.Gly264Glu Uncertain significance Single submitter
- KL p.Gly38Ser Uncertain significance Single submitter
- KL p.His269Arg Uncertain significance Single submitter
- KL p.His808Tyr Uncertain significance Single submitter
-
KL p.Ile895Thr
Uncertain significance
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Leu626Val Uncertain significance Single submitter
- KL p.Lys860Glu Uncertain significance Single submitter
- KL p.Phe149Leu Uncertain significance Single submitter
- KL p.Phe575Leu Uncertain significance Single submitter
- KL p.Pro490Thr Uncertain significance Single submitter
- KL p.Pro660Leu Uncertain significance Single submitter
- KL p.Pro923Leu Uncertain significance Single submitter
- KL p.Ser609Phe Uncertain significance Single submitter
-
KL p.Ser767Cys
Uncertain significance
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Ser872Phe Uncertain significance Single submitter
- KL p.Ser996Pro Uncertain significance Single submitter
-
KL p.Thr632Ile
Uncertain significance
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Thr92Arg Uncertain significance Single submitter
- KL p.Thr94Ile Uncertain significance Single submitter
- KL p.Trp42Arg Uncertain significance Single submitter
-
KL p.Trp458Cys
Uncertain significance
Single submitter
tumoral calcinosis, hyperphosphatemic, familial, 3
- KL p.Trp458Leu Uncertain significance Single submitter
- KL p.Val156Met Uncertain significance Single submitter
- KL p.Val278Leu Uncertain significance Single submitter
- KL p.Asp835Glu Uncertain significance No assertion criteria
All KL variants
Likely pathogenic 1
- p.His83fs Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
Conflicting classifications of pathogenicity 19
- p.Ala249= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ala5= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Arg171Ser Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Arg473= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Arg620= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Arg649Cys Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Asn304Ser Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Asp876Asn Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Gln396= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Glu625Lys Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Gly205Asp Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Gly766= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.His193Arg Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Leu753= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ser150= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Thr542= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Thr958= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Thr968= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Val331Ile Single submitter ⚠
Benign 33
- c.1331-39G>A Multiple submitters
- c.1599+205C>T Multiple submitters
- c.2701+22T>A Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- c.2702-110T>C Multiple submitters
- c.2702-59dup Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 1
- c.820-144A>G Multiple submitters
- c.820-46C>G Multiple submitters
- c.820-75T>G Multiple submitters
- c.820-79C>T Multiple submitters
- p.Ala107Val Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ala749= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Arg47Gln Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Asn873= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Asn896= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Asp91= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Cys370Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Gly469= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.His589= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Leu109Arg Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Leu31= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Lys385= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Phe352Val Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Tyr1003Cys Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- c.1330+11G>A Single submitter
- c.1330+143T>G Single submitter
- c.1331-195A>G Single submitter
- c.2702-182C>T Single submitter
- c.820-211G>A Single submitter
- c.820-236C>T Single submitter
- c.*1286A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1619T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*543G>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Gly655= Single submitter
Benign/Likely benign 13
- p.Ala162= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ala203Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ala457= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Arg179= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Arg199Cys Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Arg29= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Asn131Lys Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Gln844= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Gly766Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Leu109= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Pro514Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Tyr129= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Tyr531= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
Likely benign 130
- c.2701+18C>T Multiple submitters
- c.2702-17T>C Multiple submitters
- c.*1347C>G Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*32A>G Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*722T>C Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Gly335= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.His246= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ile453= Multiple submitters
- p.Leu98= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Phe464= Multiple submitters
- p.Pro937= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ser596= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ser916= Multiple submitters
- p.Thr834= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Tyr894= Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- c.1331-13C>T Single submitter
- c.1331-16C>T Single submitter
- c.1331-18C>A Single submitter
- c.1331-18C>T Single submitter
- c.1331-9C>A Single submitter
- c.1599+16A>C Single submitter
- c.1600-10C>T Single submitter
- c.1600-11G>T Single submitter
- c.1600-8C>G Single submitter
- c.2702-15C>T Single submitter
- c.819+14G>T Single submitter
- c.819+17A>G Single submitter
- c.819+20C>G Single submitter
- c.819+20C>T Single submitter
- c.819+8C>G Single submitter
- c.820-18T>C Single submitter
- c.820-19A>G Single submitter
- c.*1455A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1664T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1766T>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*407T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*510C>T Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ala113= Single submitter
- p.Ala138= Single submitter
- p.Ala213= Single submitter
- p.Ala220= Single submitter
- p.Ala254= Single submitter
- p.Ala297= Single submitter
- p.Ala667= Single submitter
- p.Ala846= Single submitter
- p.Ala914= Single submitter
- p.Arg148= Single submitter
- p.Arg387His Single submitter
- p.Arg594His Single submitter
- p.Asn918= Single submitter
- p.Asp123= Single submitter
- p.Asp195= Single submitter
- p.Asp238= Single submitter
- p.Asp877= Single submitter
- p.Asp883= Single submitter
- p.Cys673= Single submitter
- p.Gln75= Single submitter
- p.Glu137= Single submitter
- p.Glu658= Single submitter
- p.Glu736= Single submitter
- p.Glu754= Single submitter
- p.Gly122= Single submitter
- p.Gly228= Single submitter
- p.Gly911= Single submitter
- p.Gly952= Single submitter
- p.His193= Single submitter
- p.His680= Single submitter
- p.His712= Single submitter
- p.His712Arg Single submitter
- p.His96= Single submitter
- p.Ile578= Single submitter
- p.Ile582= Single submitter
- p.Ile875= Single submitter
- p.Ile89= Single submitter
- p.Leu271= Single submitter
- p.Leu397= Single submitter
- p.Leu488= Single submitter
- p.Leu677= Single submitter
- p.Leu785= Single submitter
- p.Leu904= Single submitter
- p.Leu909= Single submitter
- p.Leu927= Single submitter
- p.Lys342= Single submitter
- p.Lys436= Single submitter
- p.Lys491= Single submitter
- p.Lys795= Single submitter
- p.Phe227= Single submitter
- p.Phe386= Single submitter
- p.Phe925= Single submitter
- p.Phe953= Single submitter
- p.Phe988= Single submitter
- p.Pro110= Single submitter
- p.Pro116= Single submitter
- p.Pro12= Single submitter
- p.Pro197= Single submitter
- p.Pro330= Single submitter
- p.Pro35= Single submitter
- p.Pro392= Single submitter
- p.Pro580= Single submitter
- p.Pro604= Single submitter
- p.Pro643= Single submitter
- p.Pro648= Single submitter
- p.Pro690= Single submitter
- p.Pro771= Single submitter
- p.Ser1004= Single submitter
- p.Ser18= Single submitter
- p.Ser391= Single submitter
- p.Ser4= Single submitter
- p.Ser46= Single submitter
- p.Ser624= Single submitter
- p.Ser742= Single submitter
- p.Ser841= Single submitter
- p.Ser998= Single submitter
- p.Thr236= Single submitter
- p.Thr309= Single submitter
- p.Thr456= Single submitter
- p.Thr696= Single submitter
- p.Thr76= Single submitter
- p.Thr837= Single submitter
- p.Thr94= Single submitter
- p.Thr978= Single submitter
- p.Tyr669= Single submitter
- p.Tyr863= Single submitter
- p.Val243= Single submitter
- p.Val323= Single submitter
- p.Val331= Single submitter
- p.Val452= Single submitter
- p.Val534= Single submitter
- p.Val888= Single submitter
- p.Pro954= No assertion criteria KL-related disorder
Uncertain significance 366
Showing the top 300 by review status; the full set is in the sitemap.
- c.1331-3C>A Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Ala3Thr Multiple submitters ⚠
- p.Ala50Val Multiple submitters ⚠
- p.Ala656Thr Multiple submitters ⚠
- p.Ala663Thr Multiple submitters ⚠
- p.Ala987Thr Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Arg179Trp Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Arg181Gln Multiple submitters ⚠
- p.Arg252His Multiple submitters ⚠
- p.Arg387Cys Multiple submitters ⚠
- p.Arg594Cys Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Arg620Cys Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Arg628Cys Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Arg628His Multiple submitters ⚠
- p.Arg671Gln Multiple submitters ⚠
- p.Arg751Gly Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Arg853Cys Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Arg920Cys Multiple submitters ⚠
- p.Arg929His Multiple submitters ⚠
- p.Arg979Gln Multiple submitters ⚠
- p.Asn159Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Asn166Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Asn393Asp Multiple submitters ⚠
- p.Asn723Ile Multiple submitters ⚠
- p.Asn857Lys Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Asp103Val Multiple submitters ⚠
- p.Asp745Val Multiple submitters ⚠
- p.Asp865His Multiple submitters ⚠
- p.Gln293Glu Multiple submitters ⚠
- p.Gln645Glu Multiple submitters ⚠
- p.Glu315Gly Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Glu465Lys Multiple submitters ⚠
- p.Glu625Gln Multiple submitters ⚠
- p.Gly766Arg Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Gly84Cys Multiple submitters ⚠
- p.Gly864Arg Multiple submitters ⚠
- p.Gly86Asp Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Gly878Arg Multiple submitters ⚠
- p.His83Tyr Multiple submitters ⚠
- p.His880Arg Multiple submitters ⚠
- p.Leu369Val Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Leu489del Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Leu603Val Multiple submitters ⚠
- p.Leu683Ile Multiple submitters ⚠
- p.Leu813Pro Multiple submitters ⚠
- p.Leu927Phe Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Leu999Ile Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Lys85Arg Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Lys942Gln Multiple submitters ⚠
- p.Met384Thr Multiple submitters ⚠
- p.Met588Ile Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Phe133Tyr Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Phe519Leu Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Phe990Ser Multiple submitters ⚠
- p.Pro187Leu Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Pro187Ser Multiple submitters ⚠
- p.Pro261Leu Multiple submitters ⚠
- p.Pro2Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Pro604His Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Pro690Leu Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Ser319Phe Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Ser554Gly Multiple submitters ⚠
- p.Thr686Met Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Trp194Ser Multiple submitters ⚠
- p.Trp838Ser Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Trp858Arg Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Tyr241fs Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Val323Ile Multiple submitters tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Val681Ile Multiple submitters ⚠
- c.1331-4_1331-3delinsAA Single submitter
- c.1331-4G>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.1599+14C>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.2702-1G>C Single submitter
- c.2702-3C>T Single submitter
- c.*1007T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1182T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1324A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1372T>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1486T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1509T>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1565T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1603C>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1728A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*174A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1750T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*17A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1870G>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1894T>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*1950C>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*203G>T Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*218G>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*263A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*26T>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*380A>G Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*466A>T Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*587G>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*735G>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*771C>T Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*793G>T Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*810G>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*853T>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*8C>T Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*934T>A Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- c.*93A>C Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.16SL[1] Single submitter
- p.16SL[3] Single submitter
- p.Ala107Ser Single submitter ⚠
- p.Ala113Ser Single submitter ⚠
- p.Ala162Val Single submitter ⚠
- p.Ala203Val Single submitter ⚠
- p.Ala213Asp Single submitter ⚠
- p.Ala244Ser Single submitter ⚠
- p.Ala249Thr Single submitter ⚠
- p.Ala254Gly Single submitter
- p.Ala254Val Single submitter ⚠
- p.Ala268Thr Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala297Thr Single submitter ⚠
- p.Ala368fs Single submitter
- p.Ala3Ser Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Ala576Ser Single submitter ⚠
- p.Ala576Thr Single submitter ⚠
- p.Ala577Gly Single submitter ⚠
- p.Ala583Ser Single submitter ⚠
- p.Ala663Ser Single submitter ⚠
- p.Ala665Asp Single submitter ⚠
- p.Ala68Ser Single submitter ⚠
- p.Ala72Ser Single submitter ⚠
- p.Ala749Ser Single submitter ⚠
- p.Ala931Ser Single submitter ⚠
- p.Ala939Val Single submitter ⚠
- p.Ala99Pro Single submitter ⚠
- p.Arg1009Lys Single submitter ⚠
- p.Arg140Cys Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg148Cys Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Arg171Cys Single submitter ⚠
- p.Arg174Pro Single submitter
- p.Arg179Gln Single submitter ⚠
- p.Arg181Gly Single submitter ⚠
- p.Arg199Pro Single submitter ⚠
- p.Arg258Trp Single submitter ⚠
- p.Arg287His Single submitter ⚠
- p.Arg287Ser Single submitter ⚠
- p.Arg44Cys Single submitter ⚠
- p.Arg44Pro Single submitter ⚠
- p.Arg474Cys Single submitter ⚠
- p.Arg47Pro Single submitter ⚠
- p.Arg556Lys Single submitter ⚠
- p.Arg594Leu Single submitter ⚠
- p.Arg649His Single submitter ⚠
- p.Arg653Gly Single submitter ⚠
- p.Arg671Leu Single submitter ⚠
- p.Arg781Gly Single submitter ⚠
- p.Arg853Gly Single submitter ⚠
- p.Arg853His Single submitter
- p.Arg8Cys Single submitter ⚠
- p.Asn106His Single submitter ⚠
- p.Asn106Ser Single submitter ⚠
- p.Asn283Ser Single submitter ⚠
- p.Asn393Ser Single submitter ⚠
- p.Asn607Asp Single submitter ⚠
- p.Asn659Lys Single submitter
- p.Asn715Ser Single submitter ⚠
- p.Asn825Ser Single submitter ⚠
- p.Asn873Lys Single submitter ⚠
- p.Asn896His Single submitter ⚠
- p.Asn908Ser Single submitter ⚠
- p.Asp127Asn Single submitter ⚠
- p.Asp135Tyr Single submitter ⚠
- p.Asp310Asn Single submitter ⚠
- p.Asp402Tyr Single submitter ⚠
- p.Asp402Val Single submitter ⚠
- p.Asp535Val Single submitter
- p.Asp776Gly Single submitter ⚠
- p.Asp883His Single submitter ⚠
- p.Asp884Asn Single submitter
- p.Asp933Gly Single submitter ⚠
- p.Cys572Trp Single submitter ⚠
- p.Gln317Lys Single submitter ⚠
- p.Gln388Lys Single submitter ⚠
- p.Gln40His Single submitter ⚠
- p.Gln586Arg Single submitter ⚠
- p.Gln586Ter Single submitter
- p.Gln934His Single submitter ⚠
- p.Glu182Ter Single submitter
- p.Glu339fs Single submitter
- p.Glu354Gly Single submitter ⚠
- p.Glu390Gly Single submitter ⚠
- p.Glu414Gly Single submitter ⚠
- p.Glu52Ala Single submitter ⚠
- p.Glu736Gly Single submitter ⚠
- p.Glu747Lys Single submitter ⚠
- p.Glu762Lys Single submitter
- p.Glu793Asp Single submitter ⚠
- p.Glu793Gly Single submitter ⚠
- p.Glu897Gly Single submitter ⚠
- p.Glu960Val Single submitter ⚠
- p.Gly1007Asp Single submitter ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly112Ala Single submitter ⚠
- p.Gly122Arg Single submitter ⚠
- p.Gly160Ser Single submitter ⚠
- p.Gly184Ser Single submitter ⚠
- p.Gly205Arg Single submitter ⚠
- p.Gly229Arg Single submitter ⚠
- p.Gly247Ser Single submitter
- p.Gly264Arg Single submitter ⚠
- p.Gly264Glu Single submitter ⚠
- p.Gly27Asp Single submitter ⚠
- p.Gly292Val Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Gly325Val Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Gly38Ser Single submitter ⚠
- p.Gly64Asp Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Gly766Ala Single submitter ⚠
- p.Gly766Cys Single submitter ⚠
- p.Gly79fs Single submitter
- p.Gly84Asp Single submitter ⚠
- p.Gly874Arg Single submitter
- p.Gly906Asp Single submitter ⚠
- p.His193Asn Single submitter ⚠
- p.His215Arg Single submitter ⚠
- p.His215Tyr Single submitter ⚠
- p.His269Arg Single submitter ⚠
- p.His407Arg Single submitter ⚠
- p.His552Pro Single submitter ⚠
- p.His589Asn Single submitter ⚠
- p.His589Pro Single submitter ⚠
- p.His592Arg Single submitter ⚠
- p.His613Asn Single submitter ⚠
- p.His808Tyr Single submitter ⚠
- p.His977Tyr Single submitter ⚠
- p.Ile1000Leu Single submitter ⚠
- p.Ile1000Thr Single submitter ⚠
- p.Ile151Thr Single submitter ⚠
- p.Ile237Val Single submitter ⚠
- p.Ile296Thr Single submitter ⚠
- p.Ile532Val Single submitter ⚠
- p.Ile578Val Single submitter ⚠
- p.Ile582Val Single submitter ⚠
- p.Ile602fs Single submitter
- p.Ile728Val Single submitter ⚠
- p.Ile735Leu Single submitter ⚠
- p.Ile836Thr Single submitter ⚠
- p.Ile870Leu Single submitter ⚠
- p.Ile895Thr Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Ile89Leu Single submitter
- p.Leu111Phe Single submitter ⚠
- p.Leu139Gln Single submitter ⚠
- p.Leu142= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Leu19Val Single submitter ⚠
- p.Leu20Val Single submitter ⚠
- p.Leu24_Gly25insValLeuLeu Single submitter
- p.Leu403Arg Single submitter ⚠
- p.Leu488Phe Single submitter ⚠
- p.Leu616= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Leu626Val Single submitter ⚠
- p.Leu647Val Single submitter ⚠
- p.Leu806Ter Single submitter
- p.Leu866Phe Single submitter ⚠
- p.Lys232Met Single submitter
- p.Lys569Ile Single submitter ⚠
- p.Lys860Glu Single submitter ⚠
- p.Met384Leu Single submitter ⚠
- p.Met384Val Single submitter ⚠
- p.Met431Ile Single submitter ⚠
- p.Met622Thr Single submitter ⚠
- p.Met868Ile Single submitter ⚠
- p.Met868Val Single submitter ⚠
- p.Met891Lys Single submitter ⚠
- p.Met941Thr Single submitter ⚠
- p.Phe149Leu Single submitter ⚠
- p.Phe359Leu Single submitter ⚠
- p.Phe464fs Single submitter
- p.Phe575Ile Single submitter ⚠
- p.Phe575Leu Single submitter ⚠
- p.Phe674Leu Single submitter ⚠
- p.Phe718Cys Single submitter ⚠
- p.Phe765Ser Single submitter ⚠
- p.Pro100Leu Single submitter ⚠
- p.Pro101= Single submitter
- p.Pro13Arg Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro15_Ser16insPro Single submitter
- p.Pro255Leu Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3 ⚠
- p.Pro288His Single submitter ⚠
- p.Pro338= Single submitter tumoral calcinosis, hyperphosphatemic, familial, 3
- p.Pro48Arg Single submitter ⚠
- p.Pro490Thr Single submitter ⚠
- p.Pro51Thr Single submitter ⚠
- p.Pro580Ser Single submitter ⚠
- p.Pro640Ser Single submitter ⚠
- p.Pro660Ala Single submitter ⚠
- p.Pro660Arg Single submitter ⚠
- p.Pro660Leu Single submitter ⚠
- p.Pro6Gln Single submitter ⚠
- p.Pro740Leu Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Pro7Ser Single submitter ⚠