AGPS — 744 ClinVar variants
All ClinVar germline AGPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →
7 Pathogenic · 1 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 16 Conflicting · 70 Benign · 7 Benign/Likely benign · 422 Likely benign · 199 Uncertain significance
Full AGPS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 112
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 lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AGPS p.Asn649Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPS p.Gly9Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPS p.Leu120Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPS p.Pro415Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPS p.Thr72Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGPS p.Ala409Ser Uncertain significance Single submitter
-
AGPS p.Ala496Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Ala560Pro
Uncertain significance
Single submitter
rhizomelic chondrodysplasia punctata type 3
- AGPS p.Ala70Thr Uncertain significance Single submitter
-
AGPS p.Arg27Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Arg317Cys Uncertain significance Single submitter
-
AGPS p.Arg419Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Arg503Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Asn461Ser Uncertain significance Single submitter
- AGPS p.Asn56Asp Uncertain significance Single submitter
- AGPS p.Asn609Ser Uncertain significance Single submitter
-
AGPS p.Asp32Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Asp473Gly Uncertain significance Single submitter
-
AGPS p.Asp535Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Cys247Phe Uncertain significance Single submitter
- AGPS p.Cys413Tyr Uncertain significance Single submitter
-
AGPS p.Gln558Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Gln597Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Glu51Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Glu605Asp Uncertain significance Single submitter
-
AGPS p.Gly124Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Gly12Arg Uncertain significance Single submitter
- AGPS p.Gly238Arg Uncertain significance Single submitter
- AGPS p.Gly299Ser Uncertain significance Single submitter
- AGPS p.Gly446Arg Uncertain significance Single submitter
-
AGPS p.Gly81Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.His142Arg Uncertain significance Single submitter
-
AGPS p.His430Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Ile235Val Uncertain significance Single submitter
-
AGPS p.Ile418Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Ile588Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Ile631Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Lys410Arg Uncertain significance Single submitter
-
AGPS p.Lys85Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Met201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Phe443Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Pro49Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Pro75Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Ser54Cys Uncertain significance Single submitter
-
AGPS p.Ser65Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Ser80Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Thr135Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Thr135Ile Uncertain significance Single submitter
-
AGPS p.Thr283Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Thr549Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Thr82Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Tyr296His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Tyr485Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Tyr505Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Tyr571Ser Uncertain significance Single submitter
-
AGPS p.Val484Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Ala318Thr
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
AGPS p.Asp459Gly
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
AGPS p.Gln435Glu
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Gln479Glu
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Gln625Pro
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
AGPS p.Glu141Gly
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.His617Pro
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Ile325Met
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Leu305Pro
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Thr254Pro
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Val314Ile
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Val567Ala
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
Predictors split 44
The independent predictors disagree with each other — read with care.
-
AGPS p.Arg265Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPS p.Asp28Val
Uncertain significance
Multiple submitters
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Asp590His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPS p.Gly12Asp
Benign/Likely benign
Multiple submitters
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Phe450Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGPS p.Pro460Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGPS p.Ala2Glu Uncertain significance Single submitter
-
AGPS p.Ala377Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Ala4Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Ala5Val
Uncertain significance
Single submitter
rhizomelic chondrodysplasia punctata type 3
- AGPS p.Ala7Val Conflicting Single submitter
- AGPS p.Arg27Trp Uncertain significance Single submitter
- AGPS p.Arg39Trp Uncertain significance Single submitter
-
AGPS p.Arg50Gln
Conflicting
Single submitter
Inborn genetic diseases
-
AGPS p.Arg50Trp
Conflicting
Single submitter
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Asn151Tyr
Uncertain significance
Single submitter
rhizomelic chondrodysplasia punctata type 3
- AGPS p.Asp24Val Uncertain significance Single submitter
- AGPS p.Asp26Val Uncertain significance Single submitter
- AGPS p.Asp30Val Uncertain significance Single submitter
- AGPS p.Gln479Arg Uncertain significance Single submitter
-
AGPS p.Glu170Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AGPS p.Glu3Lys Uncertain significance Single submitter
-
AGPS p.His277Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Ile379Val
Uncertain significance
Single submitter
rhizomelic chondrodysplasia punctata type 3
- AGPS p.Ile381Val Uncertain significance Single submitter
- AGPS p.Leu447Phe Uncertain significance Single submitter
- AGPS p.Lys227Arg Uncertain significance Single submitter
-
AGPS p.Lys555Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Met263Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Phe202Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Pro533Thr
Uncertain significance
Single submitter
rhizomelic chondrodysplasia punctata type 3
- AGPS p.Ser153Arg Uncertain significance Single submitter
-
AGPS p.Thr171Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Thr252Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Tyr522Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Val219Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGPS p.Val402Ile
Conflicting
Single submitter
Inborn genetic diseases
-
AGPS p.Ala67Val
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
AGPS p.Asp167Asn
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Asp180Gly
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Ile111Thr
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Ile194Met
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata
-
AGPS p.Phe103Leu
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
-
AGPS p.Thr370Ile
Uncertain significance
No assertion criteria
rhizomelic chondrodysplasia punctata type 3
All AGPS variants
Pathogenic 7
- c.638-1G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Arg515Ter Single submitter
- p.Gly556fs Single submitter
- p.Phe184fs Single submitter
- p.Tyr580fs Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Leu469Pro No assertion criteria rhizomelic chondrodysplasia punctata type 3
- p.Thr568Met No assertion criteria rhizomelic chondrodysplasia punctata type 3
Pathogenic/Likely pathogenic 1
- p.Arg182Ter Multiple submitters rhizomelic chondrodysplasia punctata type 3
Likely pathogenic 22
- p.Thr309Ile Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1233+1G>A Single submitter
- c.1286delG Single submitter rhizomelic chondrodysplasia punctata type 3
- c.1546-84_1591dup Single submitter rhizomelic chondrodysplasia punctata type 3
- c.1608-1G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.557_562+5del Single submitter rhizomelic chondrodysplasia punctata type 3
- c.562+1G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.637+2T>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.710-2A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Arg204Ter Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Arg419His Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Asn272fs Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Glu199Ter Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Glu306fs Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Glu346fs Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Glu520fs Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Ile194fs Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Lys169Ter Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Lys553fs Single submitter rhizomelic chondrodysplasia punctata
- p.Ser101fs Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Trp96Ter Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Tyr513fs Single submitter rhizomelic chondrodysplasia punctata type 3
Conflicting classifications of pathogenicity 16
- c.1475+12A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.637+13C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.638-7T>C Single submitter
- p.Ala7Val Single submitter ⚠
- p.Arg50Gln Single submitter Inborn genetic diseases ⚠
- p.Arg50Trp Single submitter rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Asp445= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Cys297= Single submitter
- p.Leu507= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Lys555= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Phe636= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Pro460= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Thr145= Single submitter
- p.Val183= Single submitter
- p.Val402Ile Single submitter Inborn genetic diseases ⚠
- p.Val523= Single submitter rhizomelic chondrodysplasia punctata type 3
Benign 70
- c.1234-39A>G Multiple submitters
- c.1285+145C>T Multiple submitters
- c.1362+79G>A Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1475+33G>C Multiple submitters
- c.1545+125C>T Multiple submitters
- c.1545+77T>A Multiple submitters
- c.1608-95T>A Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1856-16G>T Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.260+62A>C Multiple submitters
- c.261-5A>C Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.350+95G>A Multiple submitters
- c.442-64C>T Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.563-10del Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.996+101G>A Multiple submitters
- c.996+92C>G Multiple submitters
- c.-127G>A Multiple submitters
- c.-304G>A Multiple submitters
- c.*1866A>G Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.*2548A>G Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.*3558C>T Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.*4253C>A Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.*4974T>C Multiple submitters rhizomelic chondrodysplasia punctata type 3
- p.Ala69= Multiple submitters rhizomelic chondrodysplasia punctata type 3
- p.Gly391= Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1106-129_1106-120del Single submitter
- c.1106-213T>G Single submitter
- c.1106-4dup Single submitter
- c.1233+13dup Single submitter
- c.1234-231G>C Single submitter
- c.1234-232_1234-231insAAA Single submitter
- c.1285+306G>T Single submitter
- c.1363-18A>T Single submitter
- c.1363-345C>G Single submitter
- c.1363-5del Single submitter
- c.1363-5dup Single submitter
- c.1476-194T>C Single submitter
- c.1476-21_1476-20del Single submitter
- c.1608-3del Single submitter
- c.1608-3dup Single submitter
- c.1698-14del Single submitter
- c.1798-312T>G Single submitter
- c.260+324T>C Single submitter
- c.350+273dup Single submitter
- c.351-194G>A Single submitter
- c.442-325T>C Single submitter
- c.637+275A>G Single submitter
- c.638-256A>G Single submitter
- c.638-7del Single submitter
- c.789+116C>T Single submitter
- c.871-129del Single submitter
- c.871-129dup Single submitter
- c.871-151A>G Single submitter
- c.871-15del Single submitter
- c.996+148G>A Single submitter
- c.996+206A>G Single submitter
- c.*1106A>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1364A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1719G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2091T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2636G>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3045C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*377C>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*377C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3894A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4098C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4618A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4821C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*552T>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*865A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Arg62= Single submitter rhizomelic chondrodysplasia punctata
Benign/Likely benign 7
- c.1233+13AT[7] Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1233+14T>A Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1698-14T>C Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.*5023C>A Multiple submitters rhizomelic chondrodysplasia punctata type 3
- p.Gly12Asp Multiple submitters rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Pro415= Multiple submitters rhizomelic chondrodysplasia punctata type 3
- p.Val384= Multiple submitters rhizomelic chondrodysplasia punctata type 3
Likely benign 422
Showing the top 300 by review status; the full set is in the sitemap.
- c.1233+5A>G Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1797+11A>G Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1855+85T>C Multiple submitters
- c.1856-15A>T Multiple submitters
- c.442-88G>A Multiple submitters
- p.His362= Multiple submitters rhizomelic chondrodysplasia punctata
- p.Phe307= Multiple submitters rhizomelic chondrodysplasia punctata type 3
- p.Tyr513= Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.1105+11C>T Single submitter
- c.1105+12del Single submitter
- c.1105+13G>A Single submitter
- c.1105+18T>C Single submitter
- c.1105+339G>A Single submitter
- c.1105+9A>G Single submitter
- c.1106-10T>C Single submitter
- c.1106-11C>G Single submitter
- c.1106-18C>T Single submitter
- c.1106-4T>A Single submitter
- c.1233+12A>T Single submitter
- c.1233+13_1233+14insATA Single submitter
- c.1233+13AT[8] Single submitter
- c.1233+15A>G Single submitter
- c.1233+16T>C Single submitter
- c.1233+18T>C Single submitter
- c.1233+19A>G Single submitter
- c.1234-15_1234-8del Single submitter
- c.1234-20T>C Single submitter
- c.1234-228T>C Single submitter
- c.1234-6A>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.1285+12G>A Single submitter
- c.1285+12G>C Single submitter
- c.1285+14G>A Single submitter
- c.1285+16T>C Single submitter
- c.1285+18A>G Single submitter
- c.1285+7A>G Single submitter
- c.1285+7A>T Single submitter
- c.1286-10C>G Single submitter
- c.1286-12_1286-11del Single submitter
- c.1286-14T>C Single submitter
- c.1286-17C>A Single submitter
- c.1286-17C>G Single submitter
- c.1286-19A>T Single submitter
- c.1286-4T>C Single submitter
- c.1286-5_1286-3del Single submitter
- c.1286-8C>A Single submitter
- c.1286-9T>C Single submitter
- c.1362+10T>G Single submitter
- c.1362+12T>A Single submitter
- c.1362+44A>G Single submitter
- c.1362+7A>T Single submitter
- c.1363-13T>C Single submitter
- c.1363-16T>A Single submitter
- c.1363-17T>A Single submitter
- c.1363-18del Single submitter
- c.1363-19A>C Single submitter
- c.1363-4G>T Single submitter
- c.1363-5T>G Single submitter
- c.1363-7T>G Single submitter
- c.1475+11A>C Single submitter
- c.1475+17A>G Single submitter
- c.1475+7C>A Single submitter
- c.1476-13T>C Single submitter
- c.1476-238_1476-235del Single submitter
- c.1476-5T>C Single submitter
- c.1476-7_1476-4del Single submitter
- c.1476-9T>C Single submitter
- c.1545+13A>G Single submitter
- c.1545+19C>A Single submitter
- c.1545+19C>T Single submitter
- c.1545+20C>G Single submitter
- c.1545+20C>T Single submitter
- c.1545+8A>G Single submitter
- c.1545+9T>A Single submitter
- c.1545+9T>C Single submitter
- c.1546-159G>C Single submitter
- c.1546-16G>A Single submitter
- c.1546-4A>T Single submitter
- c.1546-5A>T Single submitter
- c.1546-6del Single submitter
- c.1607+10A>G Single submitter
- c.1607+12del Single submitter
- c.1607+171G>A Single submitter
- c.1607+18G>C Single submitter
- c.1607+18G>T Single submitter
- c.1607+19C>A Single submitter
- c.1607+9T>C Single submitter
- c.1608-16A>G Single submitter
- c.1608-17C>G Single submitter
- c.1608-17C>T Single submitter
- c.1608-20A>G Single submitter
- c.1608-5T>C Single submitter
- c.1697+16T>C Single submitter
- c.1697+23_1697+28del Single submitter
- c.1697+8T>G Single submitter
- c.1698-10del Single submitter
- c.1698-8T>C Single submitter
- c.1698-9_1698-6del Single submitter
- c.1797+15C>T Single submitter
- c.1797+17G>A Single submitter
- c.1797+19A>G Single submitter
- c.1797+99C>T Single submitter
- c.1798-10C>T Single submitter
- c.1798-14G>C Single submitter
- c.1798-17G>A Single submitter
- c.1798-6del Single submitter
- c.1798-8A>C Single submitter
- c.1855+10T>C Single submitter
- c.1855+12T>G Single submitter
- c.1856-16G>C Single submitter
- c.1856-4C>G Single submitter
- c.260+10G>A Single submitter
- c.260+10G>C Single submitter
- c.260+15G>A Single submitter
- c.260+7A>G Single submitter
- c.260+8G>T Single submitter
- c.260+9C>T Single submitter
- c.261-10T>A Single submitter
- c.261-175T>C Single submitter
- c.261-18A>G Single submitter
- c.261-4C>T Single submitter
- c.261-6C>T Single submitter
- c.261-8C>T Single submitter
- c.350+10G>T Single submitter
- c.350+13T>A Single submitter
- c.350+203TA[6] Single submitter
- c.350+215A>G Single submitter
- c.350+7C>G Single submitter
- c.350+7del Single submitter
- c.350+8T>A Single submitter
- c.350+9G>A Single submitter
- c.351-10T>G Single submitter
- c.351-15T>G Single submitter
- c.351-198T>G Single submitter
- c.351-5_351-4dup Single submitter
- c.351-9G>T Single submitter
- c.441+10C>T Single submitter
- c.441+12A>G Single submitter
- c.441+18A>G Single submitter
- c.441+19_441+21del Single submitter
- c.441+19T>A Single submitter
- c.441+20T>C Single submitter
- c.441+77T>G Single submitter
- c.442-15A>C Single submitter
- c.442-16C>G Single submitter
- c.562+10T>A Single submitter
- c.562+12T>A Single submitter
- c.562+13A>G Single submitter
- c.562+19G>A Single submitter
- c.562+20C>T Single submitter
- c.562+8A>T Single submitter
- c.562+9_562+13del Single submitter
- c.563-12dup Single submitter
- c.563-13A>G Single submitter
- c.563-14T>A Single submitter
- c.563-14T>C Single submitter
- c.563-15T>G Single submitter
- c.563-8C>A Single submitter
- c.563-9A>G Single submitter
- c.563-9A>T Single submitter
- c.637+10C>T Single submitter
- c.637+11C>T Single submitter
- c.637+15C>T Single submitter
- c.637+18C>T Single submitter
- c.637+19G>A Single submitter
- c.637+20T>C Single submitter
- c.637+9T>C Single submitter
- c.638-5A>C Single submitter
- c.638-6C>T Single submitter
- c.638-9T>C Single submitter
- c.709+10G>A Single submitter
- c.709+10G>T Single submitter
- c.709+13C>G Single submitter
- c.709+14C>T Single submitter
- c.709+19G>T Single submitter
- c.710-10A>C Single submitter
- c.710-10A>G Single submitter
- c.789+17G>C Single submitter
- c.789+19T>C Single submitter
- c.790-6C>T Single submitter
- c.790-7G>T Single submitter
- c.790-8T>C Single submitter
- c.790-9T>C Single submitter
- c.870+12A>G Single submitter
- c.870+13T>C Single submitter
- c.870+19T>A Single submitter
- c.870+227G>A Single submitter
- c.870+7T>C Single submitter
- c.871-16A>T Single submitter
- c.871-20G>A Single submitter
- c.871-9G>A Single submitter
- c.996+14T>A Single submitter
- c.996+14T>C Single submitter
- c.996+257C>T Single submitter
- c.996+7A>G Single submitter
- c.996+8T>A Single submitter
- c.996+8T>C Single submitter
- c.997-11G>T Single submitter
- c.997-15T>C Single submitter
- c.997-16G>A Single submitter
- c.997-18G>A Single submitter
- c.997-19C>T Single submitter
- c.997-6A>G Single submitter
- c.997-9A>G Single submitter
- c.*1701T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3073A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*385G>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4255T>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*5124C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Ala148= Single submitter
- p.Ala15= Single submitter
- p.Ala17= Single submitter
- p.Ala179= Single submitter
- p.Ala2= Single submitter
- p.Ala23= Single submitter
- p.Ala318= Single submitter
- p.Ala394= Single submitter
- p.Ala403= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Ala416= Single submitter
- p.Ala431= Single submitter
- p.Ala488= Single submitter
- p.Ala5= Single submitter
- p.Ala512= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Ala573= Single submitter
- p.Ala582= Single submitter
- p.Ala60= Single submitter
- p.Ala602= Single submitter
- p.Ala608= Single submitter
- p.Ala63= Single submitter
- p.Ala64= Single submitter
- p.Ala67= Single submitter
- p.Ala76= Single submitter
- p.Ala77= Single submitter
- p.Arg182= Single submitter
- p.Arg185= Single submitter
- p.Arg25= Single submitter
- p.Arg27= Single submitter
- p.Arg289= Single submitter
- p.Arg317= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Arg39= Single submitter
- p.Arg48= Single submitter
- p.Arg503= Single submitter
- p.Arg542= Single submitter
- p.Arg586= Single submitter
- p.Arg61= Single submitter
- p.Asn139= Single submitter
- p.Asn172= Single submitter
- p.Asn500= Single submitter
- p.Asn543= Single submitter
- p.Asn650= Single submitter
- p.Asn99= Single submitter
- p.Asp24= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Asp26= Single submitter
- p.Asp28= Single submitter
- p.Asp30= Single submitter
- p.Asp303= Single submitter
- p.Asp32= Single submitter
- p.Asp459= Single submitter
- p.Asp473= Single submitter
- p.Asp499= Single submitter
- p.Asp539= Single submitter
- p.Cys214= Single submitter
- p.Cys231= Single submitter
- p.Cys552= Single submitter
- p.Gln350= Single submitter
- p.Gln425= Single submitter
- p.Gln462= Single submitter
- p.Gln479= Single submitter rhizomelic chondrodysplasia punctata
- p.Gln502= Single submitter
- p.Gln625= Single submitter
- p.Glu141= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Glu170= Single submitter
- p.Glu178= Single submitter
- p.Glu199= Single submitter
- p.Glu279= Single submitter
- p.Glu3= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Glu306= Single submitter
- p.Glu330= Single submitter
- p.Glu386= Single submitter
- p.Glu399= Single submitter
- p.Glu481= Single submitter
- p.Glu51= Single submitter
- p.Glu546= Single submitter
- p.Glu554= Single submitter
- p.Glu596= Single submitter
- p.Glu604= Single submitter
- p.Gly10= Single submitter
- p.Gly109= Single submitter
- p.Gly115= Single submitter
- p.Gly12= Single submitter
- p.Gly124= Single submitter
- p.Gly137= Single submitter
- p.Gly16= Single submitter
- p.Gly188= Single submitter
- p.Gly20= Single submitter
- p.Gly237= Single submitter
- p.Gly244= Single submitter
- p.Gly284= Single submitter
- p.Gly299= Single submitter
- p.Gly312= Single submitter
- p.Gly327= Single submitter
Uncertain significance 199
- c.1855+6C>A Multiple submitters rhizomelic chondrodysplasia punctata type 3
- c.*118A>G Multiple submitters rhizomelic chondrodysplasia punctata type 3
- p.Ala22Arg Multiple submitters Inborn genetic diseases
- p.Arg265Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn649Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp28Val Multiple submitters rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Asp32_Arg33insProGly Multiple submitters
- p.Asp590His Multiple submitters Inborn genetic diseases ⚠
- p.Gly9Ala Multiple submitters Inborn genetic diseases ⚠
- p.Leu120Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe450Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro415Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro460Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr72Ala Multiple submitters Inborn genetic diseases ⚠
- c.1362+3A>G Single submitter
- c.1363-2A>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.1697+2T>C Single submitter
- c.709+4G>C Single submitter
- c.870+4T>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.871-16A>G Single submitter
- c.-5_-3del Single submitter
- c.*1073T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1105T>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1238T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1312T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1424G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1469T>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1628C>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*165T>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1744A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1838AT[12] Single submitter
- c.*1858A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1860G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1865C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1869T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1880A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1880AT[7] Single submitter
- c.*1882A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*1884A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*206T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2088T>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2311G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2318A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2437A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2455C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2487C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2582C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2621C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2667G>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2730G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*2833G>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3060A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3262C>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3381G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3524T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3606A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*361C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*378G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3911AGTTTT[1] Single submitter
- c.*3931A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3953A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3971A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*3977T>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4056T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4100A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4132A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4228A>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4232A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*428C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4625C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4674A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*469A>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4780G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4788G>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4885A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4910C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*4996C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*5026C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*513T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*5155C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*5159T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*5453C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*5465C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*5506T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*5609G>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*560T>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*641T>C Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*683A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*731A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*794C>T Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*823T>A Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*921A>G Single submitter rhizomelic chondrodysplasia punctata type 3
- c.*947T>G Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Ala2Glu Single submitter ⚠
- p.Ala377Thr Single submitter Inborn genetic diseases ⚠
- p.Ala409Ser Single submitter ⚠
- p.Ala496Thr Single submitter Inborn genetic diseases ⚠
- p.Ala4Ser Single submitter Inborn genetic diseases ⚠
- p.Ala560Pro Single submitter rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Ala5Val Single submitter rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Ala70Thr Single submitter ⚠
- p.Arg27Pro Single submitter Inborn genetic diseases ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg317Cys Single submitter ⚠
- p.Arg39Trp Single submitter ⚠
- p.Arg419Cys Single submitter Inborn genetic diseases ⚠
- p.Arg503Gly Single submitter Inborn genetic diseases ⚠
- p.Asn151Tyr Single submitter rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Asn461Ser Single submitter ⚠
- p.Asn56Asp Single submitter ⚠
- p.Asn609Ser Single submitter ⚠
- p.Asp24Val Single submitter ⚠
- p.Asp26Val Single submitter ⚠
- p.Asp30Val Single submitter ⚠
- p.Asp32Glu Single submitter Inborn genetic diseases ⚠
- p.Asp473Gly Single submitter ⚠
- p.Asp535Glu Single submitter Inborn genetic diseases ⚠
- p.Cys247Phe Single submitter ⚠
- p.Cys413Tyr Single submitter ⚠
- p.Gln290= Single submitter rhizomelic chondrodysplasia punctata
- p.Gln479Arg Single submitter ⚠
- p.Gln558Pro Single submitter Inborn genetic diseases ⚠
- p.Gln597Glu Single submitter Inborn genetic diseases ⚠
- p.Glu170Val Single submitter Inborn genetic diseases ⚠
- p.Glu3Lys Single submitter ⚠
- p.Glu51Gly Single submitter Inborn genetic diseases ⚠
- p.Glu605Asp Single submitter ⚠
- p.Gly124Ser Single submitter Inborn genetic diseases ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly238Arg Single submitter ⚠
- p.Gly299Ser Single submitter ⚠
- p.Gly446Arg Single submitter ⚠
- p.Gly81Ala Single submitter Inborn genetic diseases ⚠
- p.His142Arg Single submitter ⚠
- p.His277Asn Single submitter Inborn genetic diseases ⚠
- p.His430Pro Single submitter Inborn genetic diseases ⚠
- p.Ile235Val Single submitter ⚠
- p.Ile379Val Single submitter rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Ile381Val Single submitter ⚠
- p.Ile418Leu Single submitter Inborn genetic diseases ⚠
- p.Ile588Leu Single submitter Inborn genetic diseases ⚠
- p.Ile631Val Single submitter Inborn genetic diseases ⚠
- p.Leu150Ter Single submitter
- p.Leu258= Single submitter rhizomelic chondrodysplasia punctata type 3
- p.Leu447Phe Single submitter ⚠
- p.Lys227Arg Single submitter ⚠
- p.Lys410Arg Single submitter ⚠
- p.Lys555Thr Single submitter Inborn genetic diseases ⚠
- p.Lys85Glu Single submitter Inborn genetic diseases ⚠
- p.Met201Thr Single submitter Inborn genetic diseases ⚠
- p.Met263Leu Single submitter Inborn genetic diseases ⚠
- p.Phe202Leu Single submitter Inborn genetic diseases ⚠
- p.Phe443Ile Single submitter Inborn genetic diseases ⚠
- p.Pro49Leu Single submitter Inborn genetic diseases ⚠
- p.Pro533Thr Single submitter rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Pro75Ala Single submitter Inborn genetic diseases ⚠
- p.Ser153Arg Single submitter ⚠
- p.Ser54Cys Single submitter ⚠
- p.Ser65Leu Single submitter Inborn genetic diseases ⚠
- p.Ser80Leu Single submitter Inborn genetic diseases ⚠
- p.Thr135Asn Single submitter Inborn genetic diseases ⚠
- p.Thr135Ile Single submitter ⚠
- p.Thr171Ile Single submitter Inborn genetic diseases ⚠
- p.Thr252Arg Single submitter Inborn genetic diseases ⚠
- p.Thr283Ile Single submitter Inborn genetic diseases ⚠
- p.Thr549Ala Single submitter Inborn genetic diseases ⚠
- p.Thr82Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr296His Single submitter Inborn genetic diseases ⚠
- p.Tyr485Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr505Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr522Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr571Ser Single submitter ⚠
- p.Val219Phe Single submitter Inborn genetic diseases ⚠
- p.Val484Glu Single submitter Inborn genetic diseases ⚠
- c.1856-6T>C No assertion criteria rhizomelic chondrodysplasia punctata type 3
- c.710-3C>T No assertion criteria rhizomelic chondrodysplasia punctata type 3
- c.996+9T>C No assertion criteria rhizomelic chondrodysplasia punctata type 3
- p.Ala318Thr No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Ala67Val No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Asp167Asn No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Asp180Gly No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Asp459Gly No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Gln435Glu No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Gln479Glu No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Gln625Pro No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Glu141Gly No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.His215= No assertion criteria rhizomelic chondrodysplasia punctata type 3
- p.His617Pro No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Ile111Thr No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Ile194Met No assertion criteria rhizomelic chondrodysplasia punctata ⚠
- p.Ile325Met No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Leu305Pro No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Phe103Leu No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Thr213= No assertion criteria rhizomelic chondrodysplasia punctata type 3
- p.Thr254Pro No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Thr370Ile No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Thr549del No assertion criteria rhizomelic chondrodysplasia punctata type 3
- p.Val314Ile No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠
- p.Val567Ala No assertion criteria rhizomelic chondrodysplasia punctata type 3 ⚠