ANKH — 515 ClinVar variants
All ClinVar germline ANKH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →
7 Pathogenic · 3 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 19 Conflicting · 104 Benign · 21 Benign/Likely benign · 122 Likely benign · 235 Uncertain significance
Full ANKH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 136
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ANKH p.Met48Thr
Pathogenic
No assertion criteria
chondrocalcinosis 2
-
ANKH p.Pro5Thr
Pathogenic/Likely pathogenic
No assertion criteria
ANKH-related disorder
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKH p.Ala201Thr Uncertain significance Multiple submitters
-
ANKH p.Ala448Thr
Uncertain significance
Multiple submitters
ANKH-related disorder
-
ANKH p.Asn306Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Asn347Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Asp218Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Glu480Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Glu492Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Lys326Gln
Uncertain significance
Multiple submitters
ANKH-related disorder
-
ANKH p.Lys351Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Pro477Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Ser269Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Ser404Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Val87Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ANKH p.Ala137Thr Uncertain significance Single submitter
-
ANKH p.Ala302Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Ala321Glu Uncertain significance Single submitter
- ANKH p.Ala362Asp Uncertain significance Single submitter
- ANKH p.Ala40Ser Uncertain significance Single submitter
- ANKH p.Ala426Thr Uncertain significance Single submitter
- ANKH p.Ala445Thr Uncertain significance Single submitter
- ANKH p.Ala55Val Uncertain significance Single submitter
- ANKH p.Ala95Val Uncertain significance Single submitter
- ANKH p.Arg204Cys Uncertain significance Single submitter
-
ANKH p.Arg297His
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Arg488Lys Uncertain significance Single submitter
-
ANKH p.Asn115Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Asn347Asp Uncertain significance Single submitter
- ANKH p.Asp304Asn Uncertain significance Single submitter
- ANKH p.Asp355His Uncertain significance Single submitter
- ANKH p.Asp474Glu Uncertain significance Single submitter
- ANKH p.Gly229Glu Uncertain significance Single submitter
- ANKH p.Gly358Arg Uncertain significance Single submitter
- ANKH p.Gly431Arg Uncertain significance Single submitter
- ANKH p.Gly431Asp Uncertain significance Single submitter
- ANKH p.His323Asn Uncertain significance Single submitter
- ANKH p.Ile166Thr Uncertain significance Single submitter
- ANKH p.Ile216Val Uncertain significance Single submitter
- ANKH p.Ile234Val Uncertain significance Single submitter
- ANKH p.Ile296Thr Uncertain significance Single submitter
- ANKH p.Ile296Val Uncertain significance Single submitter
-
ANKH p.Ile352Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANKH p.Ile409Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Leu13Gln Uncertain significance Single submitter
-
ANKH p.Leu20Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Leu293Ser Uncertain significance Single submitter
-
ANKH p.Leu338Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Leu371Ser Uncertain significance Single submitter
-
ANKH p.Leu415Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANKH p.Leu421Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANKH p.Lys325Arg
Uncertain significance
Single submitter
chondrocalcinosis 2
- ANKH p.Lys458Thr Uncertain significance Single submitter
-
ANKH p.Met141Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Met144Val Uncertain significance Single submitter
- ANKH p.Met332Val Uncertain significance Single submitter
- ANKH p.Met48Lys Uncertain significance Single submitter
- ANKH p.Phe361Leu Uncertain significance Single submitter
- ANKH p.Phe361Ser Uncertain significance Single submitter
- ANKH p.Phe376Ser Uncertain significance Single submitter
-
ANKH p.Phe4Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Pro12Ser Uncertain significance Single submitter
- ANKH p.Pro65Arg Uncertain significance Single submitter
- ANKH p.Ser107Asn Uncertain significance Single submitter
-
ANKH p.Ser126Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Ser126Thr Uncertain significance Single submitter
- ANKH p.Ser463Leu Uncertain significance Single submitter
- ANKH p.Ser470Ala Uncertain significance Single submitter
- ANKH p.Thr128Met Uncertain significance Single submitter
- ANKH p.Thr147Ile Uncertain significance Single submitter
- ANKH p.Thr320Arg Uncertain significance Single submitter
-
ANKH p.Thr397Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Thr442Asn Uncertain significance Single submitter
- ANKH p.Tyr52Cys Uncertain significance Single submitter
-
ANKH p.Val399Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Val416Met Uncertain significance Single submitter
-
ANKH p.Val46Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Val91Met Uncertain significance Single submitter
-
ANKH p.Val99Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANKH p.Ala277Val
Uncertain significance
No assertion criteria
chondrocalcinosis 2
Predictors split 54
The independent predictors disagree with each other — read with care.
-
ANKH p.Ala136Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Arg453Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Glu47Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Glu486Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Gly225Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ANKH p.Leu109Phe Uncertain significance Multiple submitters
-
ANKH p.Leu336Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Lys3Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Val313Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Val368Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANKH p.Val485Met
Benign/Likely benign
Multiple submitters
chondrocalcinosis 2
- ANKH p.Ala249Thr Uncertain significance Single submitter
-
ANKH p.Ala435Val
Conflicting
Single submitter
craniometaphyseal dysplasia, autosomal dominant
- ANKH p.Ala447Thr Uncertain significance Single submitter
- ANKH p.Ala448Val Uncertain significance Single submitter
-
ANKH p.Arg15Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Arg36Gln Uncertain significance Single submitter
-
ANKH p.Arg372Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ANKH p.Arg372Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANKH p.Arg453Trp
Conflicting
Single submitter
chondrocalcinosis 2
- ANKH p.Cys449Arg Uncertain significance Single submitter
- ANKH p.Glu122Lys Uncertain significance Single submitter
-
ANKH p.Glu227Lys
Likely benign
Single submitter
craniometaphyseal dysplasia, autosomal dominant
- ANKH p.Glu43Val Uncertain significance Single submitter
- ANKH p.Glu489Gly Uncertain significance Single submitter
- ANKH p.Gly37Ala Uncertain significance Single submitter
- ANKH p.Gly431Ala Uncertain significance Single submitter
- ANKH p.His323Arg Uncertain significance Single submitter
- ANKH p.Ile357Thr Uncertain significance Single submitter
- ANKH p.Ile38Val Uncertain significance Single submitter
- ANKH p.Leu195Phe Uncertain significance Single submitter
- ANKH p.Leu266Val Uncertain significance Single submitter
-
ANKH p.Leu334Val
Conflicting
Single submitter
Inborn genetic diseases
- ANKH p.Leu421Arg Uncertain significance Single submitter
-
ANKH p.Met342Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Met392Ile Uncertain significance Single submitter
-
ANKH p.Pro226Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ANKH p.Pro308Ala
Uncertain significance
Single submitter
intellectual disability
- ANKH p.Pro346Thr Uncertain significance Single submitter
- ANKH p.Ser107Gly Uncertain significance Single submitter
- ANKH p.Ser239Arg Uncertain significance Single submitter
-
ANKH p.Ser79Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Thr282Ala Uncertain significance Single submitter
-
ANKH p.Thr294Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ANKH p.Thr315Met Uncertain significance Single submitter
-
ANKH p.Thr320Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANKH p.Thr427Ile
Uncertain significance
Single submitter
intellectual disability
- ANKH p.Tyr111Asn Uncertain significance Single submitter
-
ANKH p.Val173Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANKH p.Val173Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANKH p.Val341Met
Conflicting
Single submitter
chondrocalcinosis 2
- ANKH p.Val348Met Conflicting Single submitter
- ANKH p.Val430Met Uncertain significance Single submitter
-
ANKH p.His217Asp
Uncertain significance
No assertion criteria
ANKH-related disorder
All ANKH variants
Pathogenic 7
- p.Phe377del Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Leu421fs Single submitter craniometaphyseal dysplasia, autosomal dominant
- p.Cys339Arg No assertion criteria craniometaphyseal dysplasia, autosomal dominant
- p.Glu490del No assertion criteria CHONDROCALCINOSIS 2, SPORADIC
- p.Leu334Arg No assertion criteria craniometaphyseal dysplasia, autosomal dominant
- p.Leu391Pro No assertion criteria craniometaphyseal dysplasia, autosomal dominant
- p.Met48Thr No assertion criteria chondrocalcinosis 2 ⚠
Pathogenic/Likely pathogenic 3
- c.1142-4A>G Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Ser375del Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Pro5Thr No assertion criteria ANKH-related disorder ⚠
Likely pathogenic 4
- c.314-2A>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.-11C>T Single submitter Rare epilepsy
- p.Gly389Arg Single submitter chondrocalcinosis 2
- p.Pro5Leu Single submitter chondrocalcinosis 2
Conflicting classifications of pathogenicity 19
- c.1141+5A>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.1142-12T>G Single submitter
- c.*3616C>T Single submitter chondrocalcinosis 2
- c.*6012T>C Single submitter chondrocalcinosis 2
- p.Ala435Val Single submitter craniometaphyseal dysplasia, autosomal dominant ⚠
- p.Arg372Gln Single submitter Inborn genetic diseases ⚠
- p.Arg453Trp Single submitter chondrocalcinosis 2 ⚠
- p.Gly200= Single submitter chondrocalcinosis 2
- p.His9= Single submitter
- p.Ile357= Single submitter chondrocalcinosis 2
- p.Leu195= Single submitter chondrocalcinosis 2
- p.Leu334Val Single submitter Inborn genetic diseases ⚠
- p.Met487Ile Single submitter ⚠
- p.Pro226Leu Single submitter Inborn genetic diseases ⚠
- p.Pro5Ser Single submitter chondrocalcinosis 2 ⚠
- p.Thr282= Single submitter
- p.Tyr52= Single submitter chondrocalcinosis 2
- p.Val341Met Single submitter chondrocalcinosis 2 ⚠
- p.Val348Met Single submitter ⚠
Benign 104
- c.1011+15T>G Multiple submitters chondrocalcinosis 2
- c.1011+267G>A Multiple submitters
- c.1265+6T>C Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.1365+13C>T Multiple submitters chondrocalcinosis 2
- c.1366-79G>A Multiple submitters
- c.313+278C>T Multiple submitters
- c.313+9G>A Multiple submitters chondrocalcinosis 2
- c.517-240A>C Multiple submitters
- c.517-51G>A Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.517-52A>G Multiple submitters
- c.687+123C>A Multiple submitters
- c.688-136A>G Multiple submitters
- c.688-14G>A Multiple submitters chondrocalcinosis 2
- c.915+165C>T Multiple submitters
- c.916-271A>G Multiple submitters
- c.-4G>A Multiple submitters chondrocalcinosis 2
- c.-80GTCGCCCC[1] Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.*1271A>C Multiple submitters chondrocalcinosis 2
- c.*2107A>G Multiple submitters chondrocalcinosis 2
- c.*2699G>C Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.*283C>T Multiple submitters chondrocalcinosis 2
- c.*31A>G Multiple submitters chondrocalcinosis 2
- c.*3420T>C Multiple submitters chondrocalcinosis 2
- c.*3628T>C Multiple submitters chondrocalcinosis 2
- c.*3706G>A Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.*3928C>T Multiple submitters chondrocalcinosis 2
- c.*4219T>C Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.*4428T>C Multiple submitters chondrocalcinosis 2
- c.*510C>T Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.*561C>T Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.*5641A>G Multiple submitters chondrocalcinosis 2
- c.*580C>T Multiple submitters chondrocalcinosis 2
- c.*831T>C Multiple submitters chondrocalcinosis 2
- c.*840G>C Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Ala321= Multiple submitters chondrocalcinosis 2
- p.Ala86= Multiple submitters chondrocalcinosis 2
- p.Ala98= Multiple submitters chondrocalcinosis 2
- p.His424= Multiple submitters chondrocalcinosis 2
- p.Leu135= Multiple submitters chondrocalcinosis 2
- c.1141+190TATT[5] Single submitter
- c.1365+274T>A Single submitter
- c.1366-240T>C Single submitter
- c.516+199T>G Single submitter
- c.688-155A>G Single submitter
- c.688-186C>A Single submitter
- c.822+153G>A Single submitter
- c.822+323A>C Single submitter
- c.823-198A>G Single submitter
- c.823-207A>C Single submitter
- c.823-212G>A Single submitter
- c.823-225A>G Single submitter
- c.823-279T>C Single submitter
- c.96+93C>T Single submitter
- c.97-13dup Single submitter
- c.-252C>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*1008C>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*1192G>C Single submitter chondrocalcinosis 2
- c.*11G>A Single submitter chondrocalcinosis 2
- c.*1711C>A Single submitter chondrocalcinosis 2
- c.*1814G>A Single submitter chondrocalcinosis 2
- c.*1988C>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*2119C>T Single submitter chondrocalcinosis 2
- c.*2200T>C Single submitter chondrocalcinosis 2
- c.*2262G>T Single submitter chondrocalcinosis 2
- c.*2392G>T Single submitter chondrocalcinosis 2
- c.*2511C>T Single submitter chondrocalcinosis 2
- c.*2543G>C Single submitter chondrocalcinosis 2
- c.*2714T>C Single submitter chondrocalcinosis 2
- c.*302_*321dup Single submitter
- c.*349A>G Single submitter chondrocalcinosis 2
- c.*3543G>T Single submitter chondrocalcinosis 2
- c.*3627G>A Single submitter chondrocalcinosis 2
- c.*3698T>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*3899T>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*3900T>C Single submitter chondrocalcinosis 2
- c.*4182T>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4244T>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4251T>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4268C>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*433G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4351C>T Single submitter chondrocalcinosis 2
- c.*4513G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4624A>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4672G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*5034del Single submitter
- c.*52G>A Single submitter chondrocalcinosis 2
- c.*5459C>T Single submitter chondrocalcinosis 2
- c.*5518C>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*5662C>T Single submitter chondrocalcinosis 2
- c.*5759G>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*5768T>C Single submitter chondrocalcinosis 2
- c.*5895C>A Single submitter chondrocalcinosis 2
- c.*6163A>G Single submitter chondrocalcinosis 2
- c.*6226G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*6386G>C Single submitter chondrocalcinosis 2
- c.*706C>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*712G>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*724A>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*819T>G Single submitter chondrocalcinosis 2
- c.*914A>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*925T>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- p.Ala385= Single submitter
- p.Gly389= Single submitter
- p.Leu228= Single submitter
Benign/Likely benign 21
- c.1012-11T>G Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.1266-6C>T Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.1365+9G>A Multiple submitters chondrocalcinosis 2
- c.314-13C>T Multiple submitters chondrocalcinosis 2
- c.432+13G>A Multiple submitters chondrocalcinosis 2
- c.517-18C>G Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.822+55G>T Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- c.915+14C>T Multiple submitters chondrocalcinosis 2
- c.97-13del Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Ala413Thr Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Ala426= Multiple submitters chondrocalcinosis 2
- p.Arg187Gln Multiple submitters chondrocalcinosis 2
- p.Glu227= Multiple submitters chondrocalcinosis 2
- p.Gly94= Multiple submitters chondrocalcinosis 2
- p.Ile446= Multiple submitters chondrocalcinosis 2
- p.Ile96= Multiple submitters chondrocalcinosis 2
- p.Leu34= Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Phe329= Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Ser123= Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Val444= Multiple submitters chondrocalcinosis 2
- p.Val485Met Multiple submitters chondrocalcinosis 2 ⚠
Likely benign 122
- c.1011+109G>A Multiple submitters
- c.1266-18T>C Multiple submitters
- c.517-196C>G Multiple submitters
- c.687+135T>C Multiple submitters
- c.-17_-2dup Multiple submitters
- p.Gly30= Multiple submitters
- p.Gly429= Multiple submitters
- p.Pro477= Multiple submitters
- p.Ser463= Multiple submitters
- p.Thr294= Multiple submitters
- p.Tyr290= Multiple submitters
- c.1011+12G>C Single submitter
- c.1011+15T>A Single submitter
- c.1011+19T>A Single submitter
- c.1011+8C>G Single submitter
- c.1012-12C>G Single submitter
- c.1012-157G>T Single submitter
- c.1012-16A>G Single submitter
- c.1012-93C>T Single submitter
- c.1141+190TATT[8] Single submitter
- c.1142-321G>A Single submitter
- c.1265+11A>C Single submitter
- c.1265+18T>C Single submitter
- c.1265+198G>A Single submitter
- c.1266-231G>A Single submitter
- c.1266-263G>A Single submitter
- c.1365+11C>T Single submitter
- c.1365+12G>A Single submitter
- c.1365+14G>A Single submitter
- c.1365+15_1365+19dup Single submitter
- c.1365+16C>T Single submitter
- c.1365+17G>A Single submitter
- c.1365+19G>A Single submitter
- c.1365+7C>G Single submitter
- c.1366-13T>G Single submitter
- c.1366-19T>C Single submitter
- c.1366-81C>T Single submitter
- c.313+11C>T Single submitter
- c.313+13A>G Single submitter
- c.313+13del Single submitter
- c.313+14C>T Single submitter
- c.313+15C>T Single submitter
- c.313+16G>A Single submitter
- c.313+8C>T Single submitter
- c.314-118A>G Single submitter
- c.314-18C>A Single submitter
- c.314-18C>G Single submitter
- c.432+16C>A Single submitter
- c.432+16C>T Single submitter
- c.432+17G>A Single submitter
- c.516+13T>C Single submitter
- c.517-17G>A Single submitter
- c.517-18C>T Single submitter
- c.687+9A>C Single submitter
- c.687+9A>G Single submitter
- c.822+11C>T Single submitter
- c.822+9T>C Single submitter
- c.915+10C>T Single submitter
- c.915+11G>A Single submitter
- c.915+15G>A Single submitter
- c.916-17_916-16del Single submitter
- c.916-18G>A Single submitter
- c.96+14C>G Single submitter
- c.96+9C>G Single submitter
- c.97-12C>A Single submitter
- c.97-13T>C Single submitter
- c.97-7T>C Single submitter
- c.-291CCG[8] Single submitter
- c.-6G>C Single submitter
- c.*2243C>T Single submitter chondrocalcinosis 2
- p.Ala136= Single submitter
- p.Ala137= Single submitter
- p.Ala149= Single submitter
- p.Ala201= Single submitter
- p.Ala232= Single submitter
- p.Ala277= Single submitter
- p.Ala298= Single submitter
- p.Ala445= Single submitter
- p.Ala448= Single submitter
- p.Ala50= Single submitter
- p.Ala55= Single submitter
- p.Arg372= Single submitter
- p.Asn347= Single submitter
- p.Asp121= Single submitter
- p.Asp142= Single submitter
- p.Asp360= Single submitter
- p.Asp68= Single submitter
- p.Glu227Lys Single submitter craniometaphyseal dysplasia, autosomal dominant ⚠
- p.Gly37= Single submitter
- p.Gly431= Single submitter
- p.Gly436= Single submitter
- p.His119= Single submitter
- p.His217= Single submitter
- p.Ile113= Single submitter
- p.Ile114= Single submitter
- p.Ile166= Single submitter
- p.Ile27= Single submitter
- p.Ile356= Single submitter
- p.Ile484= Single submitter
- p.Leu13= Single submitter
- p.Leu160= Single submitter
- p.Leu210= Single submitter
- p.Leu312= Single submitter
- p.Leu74= Single submitter
- p.Leu88= Single submitter
- p.Lys85= Single submitter
- p.Phe340= Single submitter
- p.Phe374= Single submitter
- p.Pro226= Single submitter
- p.Pro243= Single submitter
- p.Pro289= Single submitter
- p.Ser270= Single submitter
- p.Ser470= Single submitter
- p.Thr102= Single submitter
- p.Thr128= Single submitter
- p.Thr315= Single submitter
- p.Thr388= Single submitter
- p.Thr63= Single submitter
- p.Tyr112= Single submitter
- p.Tyr450= Single submitter
- p.Val87= Single submitter
- c.*10C>A No assertion criteria ANKH-related disorder
Uncertain significance 235
- c.*3752G>A Multiple submitters craniometaphyseal dysplasia, autosomal dominant
- p.Ala136Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala201Thr Multiple submitters ⚠
- p.Ala448Thr Multiple submitters ANKH-related disorder ⚠
- p.Arg453Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn306Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn347Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp218Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu47Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu480Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu486Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu492Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly225Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu109Phe Multiple submitters ⚠
- p.Leu336Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys326Gln Multiple submitters ANKH-related disorder ⚠
- p.Lys351Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys3Glu Multiple submitters Inborn genetic diseases ⚠
- p.Pro477Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser269Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser404Pro Multiple submitters Inborn genetic diseases ⚠
- p.Val313Met Multiple submitters Inborn genetic diseases ⚠
- p.Val368Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val87Ile Multiple submitters Inborn genetic diseases ⚠
- c.1011+14_1011+15delinsTG Single submitter
- c.1011+7A>T Single submitter
- c.1012-1G>T Single submitter
- c.1012-3C>T Single submitter
- c.1365+1_1365+9dup Single submitter
- c.1365+6A>T Single submitter
- c.313+12G>A Single submitter chondrocalcinosis 2
- c.314-5T>C Single submitter
- c.516+6T>A Single submitter
- c.687+4C>T Single submitter
- c.915+5G>C Single submitter
- c.915+6_915+15del Single submitter
- c.96+5G>A Single submitter
- c.97-9C>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.-291CCG[6] Single submitter
- c.-87T>A Single submitter chondrocalcinosis 2
- c.*1058C>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*1081C>T Single submitter chondrocalcinosis 2
- c.*1137A>C Single submitter chondrocalcinosis 2
- c.*1270A>C Single submitter chondrocalcinosis 2
- c.*1354A>G Single submitter chondrocalcinosis 2
- c.*1370C>G Single submitter chondrocalcinosis 2
- c.*1372C>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*1423G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*1451T>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*1470G>A Single submitter chondrocalcinosis 2
- c.*147T>A Single submitter chondrocalcinosis 2
- c.*1490T>C Single submitter chondrocalcinosis 2
- c.*1626G>A Single submitter chondrocalcinosis 2
- c.*1646A>G Single submitter chondrocalcinosis 2
- c.*1668A>C Single submitter chondrocalcinosis 2
- c.*1753C>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*1754G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*1772C>T Single submitter chondrocalcinosis 2
- c.*1894T>C Single submitter chondrocalcinosis 2
- c.*2017G>A Single submitter chondrocalcinosis 2
- c.*2113del Single submitter
- c.*2236G>A Single submitter chondrocalcinosis 2
- c.*2393A>T Single submitter chondrocalcinosis 2
- c.*2428G>C Single submitter chondrocalcinosis 2
- c.*256G>A Single submitter chondrocalcinosis 2
- c.*2644G>C Single submitter chondrocalcinosis 2
- c.*2674C>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*2674C>G Single submitter chondrocalcinosis 2
- c.*2694T>C Single submitter chondrocalcinosis 2
- c.*2770C>T Single submitter chondrocalcinosis 2
- c.*2959T>C Single submitter chondrocalcinosis 2
- c.*309G>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*30C>T Single submitter chondrocalcinosis 2
- c.*3133C>A Single submitter chondrocalcinosis 2
- c.*3172A>G Single submitter chondrocalcinosis 2
- c.*3224T>C Single submitter chondrocalcinosis 2
- c.*3359T>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*3386G>A Single submitter chondrocalcinosis 2
- c.*3509G>C Single submitter chondrocalcinosis 2
- c.*3548G>A Single submitter chondrocalcinosis 2
- c.*3554C>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*3559G>C Single submitter chondrocalcinosis 2
- c.*3562G>T Single submitter chondrocalcinosis 2
- c.*3567G>C Single submitter chondrocalcinosis 2
- c.*3664C>T Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*3962T>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*405G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4103G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4137G>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4250T>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4610C>A Single submitter chondrocalcinosis 2
- c.*4635A>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4704T>G Single submitter chondrocalcinosis 2
- c.*4777C>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4811A>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*4958T>C Single submitter chondrocalcinosis 2
- c.*4982T>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*5062A>G Single submitter chondrocalcinosis 2
- c.*5579G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*5593G>C Single submitter chondrocalcinosis 2
- c.*5725G>T Single submitter chondrocalcinosis 2
- c.*5887G>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*5895C>G Single submitter chondrocalcinosis 2
- c.*5898G>A Single submitter chondrocalcinosis 2
- c.*5899A>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*5900T>C Single submitter chondrocalcinosis 2
- c.*5906T>C Single submitter chondrocalcinosis 2
- c.*5912del Single submitter
- c.*5912T>A Single submitter chondrocalcinosis 2
- c.*5930C>T Single submitter chondrocalcinosis 2
- c.*5980C>A Single submitter chondrocalcinosis 2
- c.*6006A>T Single submitter chondrocalcinosis 2
- c.*6034A>C Single submitter chondrocalcinosis 2
- c.*6041T>C Single submitter chondrocalcinosis 2
- c.*6129G>A Single submitter chondrocalcinosis 2
- c.*6205G>A Single submitter chondrocalcinosis 2
- c.*6235G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*6368G>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*643T>C Single submitter chondrocalcinosis 2
- c.*700G>A Single submitter chondrocalcinosis 2
- c.*781T>A Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*793A>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*833T>C Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*921A>G Single submitter craniometaphyseal dysplasia, autosomal dominant
- c.*96T>C Single submitter chondrocalcinosis 2
- c.*999T>C Single submitter chondrocalcinosis 2
- p.Ala137Thr Single submitter ⚠
- p.Ala249Thr Single submitter ⚠
- p.Ala302Pro Single submitter Inborn genetic diseases ⚠
- p.Ala321Glu Single submitter ⚠
- p.Ala321Val Single submitter
- p.Ala362Asp Single submitter ⚠
- p.Ala40Ser Single submitter ⚠
- p.Ala426Thr Single submitter ⚠
- p.Ala445Thr Single submitter ⚠
- p.Ala447Thr Single submitter ⚠
- p.Ala448Val Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Ala95Val Single submitter ⚠
- p.Arg15Leu Single submitter Inborn genetic diseases ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg297His Single submitter Inborn genetic diseases ⚠
- p.Arg36Gln Single submitter ⚠
- p.Arg372Trp Single submitter Inborn genetic diseases ⚠
- p.Arg488Lys Single submitter ⚠
- p.Asn115Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn347Asp Single submitter ⚠
- p.Asp304Asn Single submitter ⚠
- p.Asp355His Single submitter ⚠
- p.Asp474Glu Single submitter ⚠
- p.Cys449Arg Single submitter ⚠
- p.Glu122Lys Single submitter ⚠
- p.Glu43Val Single submitter ⚠
- p.Glu468Ter Single submitter
- p.Glu489_Glu490insTer Single submitter
- p.Glu489fs Single submitter
- p.Glu489Gly Single submitter ⚠
- p.Glu492= Single submitter
- p.Gly229Glu Single submitter ⚠
- p.Gly358Arg Single submitter ⚠
- p.Gly37Ala Single submitter ⚠
- p.Gly431Ala Single submitter ⚠
- p.Gly431Arg Single submitter ⚠
- p.Gly431Asp Single submitter ⚠
- p.His323Arg Single submitter ⚠
- p.His323Asn Single submitter ⚠
- p.Ile166Thr Single submitter ⚠
- p.Ile216Val Single submitter ⚠
- p.Ile234Val Single submitter ⚠
- p.Ile296Thr Single submitter ⚠
- p.Ile296Val Single submitter ⚠
- p.Ile352Val Single submitter Inborn genetic diseases ⚠
- p.Ile357Thr Single submitter ⚠
- p.Ile38Val Single submitter ⚠
- p.Ile409Val Single submitter Inborn genetic diseases ⚠
- p.Leu13Gln Single submitter ⚠
- p.Leu195Phe Single submitter ⚠
- p.Leu20Pro Single submitter Inborn genetic diseases ⚠
- p.Leu266Val Single submitter ⚠
- p.Leu293Ser Single submitter ⚠
- p.Leu338Val Single submitter Inborn genetic diseases ⚠
- p.Leu371Ser Single submitter ⚠
- p.Leu415Val Single submitter Inborn genetic diseases ⚠
- p.Leu421Arg Single submitter ⚠
- p.Leu421Val Single submitter Inborn genetic diseases ⚠
- p.Lys325Arg Single submitter chondrocalcinosis 2 ⚠
- p.Lys458del Single submitter
- p.Lys458Thr Single submitter ⚠
- p.Met141Val Single submitter Inborn genetic diseases ⚠
- p.Met144Val Single submitter ⚠
- p.Met332Val Single submitter ⚠
- p.Met342Thr Single submitter Inborn genetic diseases ⚠
- p.Met392Ile Single submitter ⚠
- p.Met475_Asp483del Single submitter
- p.Met48Lys Single submitter ⚠
- p.Phe361Leu Single submitter ⚠
- p.Phe361Ser Single submitter ⚠
- p.Phe376Ser Single submitter ⚠
- p.Phe4Leu Single submitter Inborn genetic diseases ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro308Ala Single submitter intellectual disability ⚠
- p.Pro346Thr Single submitter ⚠
- p.Pro65Arg Single submitter ⚠
- p.Ser107Asn Single submitter ⚠
- p.Ser107Gly Single submitter ⚠
- p.Ser126Gly Single submitter Inborn genetic diseases ⚠
- p.Ser126Thr Single submitter ⚠
- p.Ser239Arg Single submitter ⚠
- p.Ser463Leu Single submitter ⚠
- p.Ser470Ala Single submitter ⚠
- p.Ser79Thr Single submitter Inborn genetic diseases ⚠
- p.Thr128Met Single submitter ⚠
- p.Thr147Ile Single submitter ⚠
- p.Thr282Ala Single submitter ⚠
- p.Thr294Met Single submitter Inborn genetic diseases ⚠
- p.Thr315Met Single submitter ⚠
- p.Thr320Arg Single submitter ⚠
- p.Thr320Met Single submitter Inborn genetic diseases ⚠
- p.Thr337= Single submitter
- p.Thr397Ile Single submitter Inborn genetic diseases ⚠
- p.Thr427Ile Single submitter intellectual disability ⚠
- p.Thr442Asn Single submitter ⚠
- p.Tyr111Asn Single submitter ⚠
- p.Tyr52Cys Single submitter ⚠
- p.Val173Ala Single submitter Inborn genetic diseases ⚠
- p.Val173Phe Single submitter Inborn genetic diseases ⚠
- p.Val299= Single submitter chondrocalcinosis 2
- p.Val399Ile Single submitter Inborn genetic diseases ⚠
- p.Val416Met Single submitter ⚠
- p.Val430Met Single submitter ⚠
- p.Val46Ile Single submitter Inborn genetic diseases ⚠
- p.Val91Met Single submitter ⚠
- p.Val99Ile Single submitter Inborn genetic diseases ⚠
- p.Ala277Val No assertion criteria chondrocalcinosis 2 ⚠
- p.His217Asp No assertion criteria ANKH-related disorder ⚠