CDC45 — 367 ClinVar variants
All ClinVar germline CDC45 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →
12 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 12 Conflicting · 37 Benign · 7 Benign/Likely benign · 143 Likely benign · 145 Uncertain significance
Full CDC45 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 139
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CDC45 p.Pro463Leu
Pathogenic/Likely pathogenic
Multiple submitters
Meier-Gorlin syndrome 7
-
CDC45 p.Ala298Val
Likely pathogenic
Single submitter
Meier-Gorlin syndrome 7
-
CDC45 p.Asp226Gly
Likely pathogenic
Single submitter
Meier-Gorlin syndrome 7
-
CDC45 p.Gln68Arg
Likely pathogenic
Single submitter
Meier-Gorlin syndrome 7
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CDC45 p.Arg341Trp
Conflicting
Single submitter
Meier-Gorlin syndrome 7
-
CDC45 p.Asp147Glu
Conflicting
Single submitter
Inborn genetic diseases
-
CDC45 p.Gly453Ser
Conflicting
Single submitter
androgen insensitivity syndrome
-
CDC45 p.Val107Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CDC45 p.Ala373Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Arg175Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Arg251His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Asp124Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Ile509Val
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 7
-
CDC45 p.Lys389Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CDC45 p.Pro490Ser Uncertain significance Multiple submitters
-
CDC45 p.Pro496Leu
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 7
-
CDC45 p.Val249Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Val265Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Ala24Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ala29Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Arg269Gln Uncertain significance Single submitter
-
CDC45 p.Arg310Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Arg341Gln Uncertain significance Single submitter
- CDC45 p.Arg424Gln Uncertain significance Single submitter
- CDC45 p.Arg484Gln Uncertain significance Single submitter
- CDC45 p.Arg536Gln Uncertain significance Single submitter
- CDC45 p.Arg554Gln Uncertain significance Single submitter
-
CDC45 p.Arg554Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Asn105Ser Uncertain significance Single submitter
- CDC45 p.Asn111Asp Uncertain significance Single submitter
-
CDC45 p.Asn483Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Asp136Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Asp390Asn Uncertain significance Single submitter
-
CDC45 p.Cys267Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Gln190Arg Uncertain significance Single submitter
- CDC45 p.Gln56Lys Uncertain significance Single submitter
- CDC45 p.Glu189Lys Uncertain significance Single submitter
-
CDC45 p.Glu346Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.His101Arg Uncertain significance Single submitter
- CDC45 p.His283Gln Uncertain significance Single submitter
-
CDC45 p.His306Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.His306Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.His369Asp Uncertain significance Single submitter
-
CDC45 p.Ile115Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Ile221Val Uncertain significance Single submitter
-
CDC45 p.Ile562Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Leu125Phe Uncertain significance Single submitter
-
CDC45 p.Leu280Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Leu416Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Leu423Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Leu83Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Lys34Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Lys471Arg Uncertain significance Single submitter
-
CDC45 p.Lys66Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Met169Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Met200Ile Uncertain significance Single submitter
- CDC45 p.Met208Val Uncertain significance Single submitter
-
CDC45 p.Met216Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Met332Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Met458Ile Uncertain significance Single submitter
- CDC45 p.Phe351Cys Uncertain significance Single submitter
- CDC45 p.Pro128Ala Uncertain significance Single submitter
-
CDC45 p.Pro511Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ser197Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ser264Tyr
Uncertain significance
Single submitter
Meier-Gorlin syndrome 7
- CDC45 p.Ser432Thr Uncertain significance Single submitter
-
CDC45 p.Ser4Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Thr158Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Thr426Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Thr503Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Trp218Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Trp303Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Tyr130Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Tyr274Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Val19Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Val358Met Uncertain significance Single submitter
-
CDC45 p.Val439Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 62
The independent predictors disagree with each other — read with care.
-
CDC45 p.Ala38Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Arg157His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Arg277Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Arg484Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Asp140Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Ile547Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Val14Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Val376Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CDC45 p.Ala297Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ala297Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ala298Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Arg157Cys
Conflicting
Single submitter
Meier-Gorlin syndrome 7
- CDC45 p.Arg159Gln Uncertain significance Single submitter
- CDC45 p.Arg159Leu Uncertain significance Single submitter
-
CDC45 p.Arg159Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Arg170Gln Uncertain significance Single submitter
- CDC45 p.Arg174Trp Conflicting Single submitter
- CDC45 p.Arg180Gln Uncertain significance Single submitter
- CDC45 p.Arg180Gly Uncertain significance Single submitter
-
CDC45 p.Arg255Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Arg269Trp Uncertain significance Single submitter
- CDC45 p.Arg277His Uncertain significance Single submitter
- CDC45 p.Arg310Trp Uncertain significance Single submitter
-
CDC45 p.Arg357Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Arg485Cys Uncertain significance Single submitter
-
CDC45 p.Arg554Trp
Conflicting
Single submitter
Meier-Gorlin syndrome 7
- CDC45 p.Arg7Gly Conflicting Single submitter
-
CDC45 p.Asp122Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Asp122Gly Likely benign Single submitter
-
CDC45 p.Asp132Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Asp140Val Uncertain significance Single submitter
-
CDC45 p.Asp149His
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Asp187Val Uncertain significance Single submitter
-
CDC45 p.Asp390Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Cys77Ser Uncertain significance Single submitter
- CDC45 p.Gln114Arg Uncertain significance Single submitter
- CDC45 p.Gln173His Uncertain significance Single submitter
- CDC45 p.Glu152Gln Uncertain significance Single submitter
- CDC45 p.Glu163Lys Uncertain significance Single submitter
-
CDC45 p.Glu178Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Glu417Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Glu531Gly Uncertain significance Single submitter
-
CDC45 p.Glu67Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CDC45 p.Gly502Ser
Conflicting
Single submitter
Inborn genetic diseases
-
CDC45 p.Gly54Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.His252Asp Uncertain significance Single submitter
- CDC45 p.His472Asn Uncertain significance Single submitter
- CDC45 p.Leu340Phe Uncertain significance Single submitter
- CDC45 p.Lys556Gln Uncertain significance Single submitter
-
CDC45 p.Met332Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CDC45 p.Phe2Ile Uncertain significance Single submitter
- CDC45 p.Pro89Ser Likely benign Single submitter
-
CDC45 p.Ser148Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ser151Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ser289Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ser4Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Ser555Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Thr113Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Thr48Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Tyr191Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Val201Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CDC45 p.Val377Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All CDC45 variants
Pathogenic 12
- p.Asn111fs Multiple submitters Meier-Gorlin syndrome 7
- p.Cys291fs Single submitter
- p.Gln41fs Single submitter
- p.Gln427Ter Single submitter
- p.Glu548Ter Single submitter Meier-Gorlin syndrome 7
- p.Leu497fs Single submitter
- p.Ser264fs Single submitter
- p.Thr394fs Single submitter
- p.Trp55Ter Single submitter
- p.Val305fs Single submitter
- c.(342+1_343-1 No assertion criteria Meier-Gorlin syndrome 7
- p.Lys482fs No assertion criteria Meier-Gorlin syndrome 7
Pathogenic/Likely pathogenic 1
- p.Pro463Leu Multiple submitters Meier-Gorlin syndrome 7 ⚠
Likely pathogenic 10
- c.52-2A>G Single submitter
- c.542+221_542+222del Single submitter
- c.591+1G>A Single submitter
- c.654-2A>G Single submitter
- c.*1+5G>A Single submitter
- p.Ala298Val Single submitter Meier-Gorlin syndrome 7 ⚠
- p.Asn76His Single submitter Meier-Gorlin syndrome 7
- p.Asp226Gly Single submitter Meier-Gorlin syndrome 7 ⚠
- p.Gln68Arg Single submitter Meier-Gorlin syndrome 7 ⚠
- p.Gln68= No assertion criteria Meier-Gorlin syndrome 7
Conflicting classifications of pathogenicity 12
- c.705-5T>C Single submitter
- p.Arg157Cys Single submitter Meier-Gorlin syndrome 7 ⚠
- p.Arg174Trp Single submitter ⚠
- p.Arg341Trp Single submitter Meier-Gorlin syndrome 7 ⚠
- p.Arg554Trp Single submitter Meier-Gorlin syndrome 7 ⚠
- p.Arg7Gly Single submitter ⚠
- p.Asp147Glu Single submitter Inborn genetic diseases ⚠
- p.Glu67Gln Single submitter Inborn genetic diseases ⚠
- p.Gly453Ser Single submitter androgen insensitivity syndrome ⚠
- p.Gly502Ser Single submitter Inborn genetic diseases ⚠
- p.His472= Single submitter Inborn genetic diseases
- p.Val107Ile Single submitter Inborn genetic diseases ⚠
Benign 37
- c.1056-86G>A Multiple submitters
- c.15+203C>G Multiple submitters
- c.1559+24G>C Multiple submitters
- c.1560-22G>A Multiple submitters
- c.1636+54T>C Multiple submitters
- c.204+104G>A Multiple submitters
- c.204+87C>T Multiple submitters
- c.486+81A>G Multiple submitters
- c.52-29T>C Multiple submitters
- c.653+164C>T Multiple submitters
- c.654-24C>T Multiple submitters
- c.704+142A>G Multiple submitters
- c.705-193C>G Multiple submitters
- c.705-241G>A Multiple submitters
- c.705-335T>G Multiple submitters
- c.-30G>T Multiple submitters
- c.*1+128T>A Multiple submitters
- c.*1+24G>T Multiple submitters
- c.*1+44C>T Multiple submitters
- p.Asp99= Multiple submitters
- p.Leu30= Multiple submitters
- p.Phe361= Multiple submitters
- p.Val50= Multiple submitters
- c.1056-304A>G Single submitter
- c.111+197G>A Single submitter
- c.1217+209T>C Single submitter
- c.1560-12G>T Single submitter
- c.1637-232G>C Single submitter
- c.591+13A>T Single submitter
- c.592-20A>G Single submitter
- c.654-233C>T Single submitter
- c.705-5dup Single submitter
- c.824+249G>C Single submitter
- c.824+307C>G Single submitter
- c.825-216C>T Single submitter
- p.Ile547= Single submitter
- p.Tyr238= Single submitter
Benign/Likely benign 7
- c.1218-19T>C Multiple submitters
- c.1559+18G>A Multiple submitters
- c.205-12C>T Multiple submitters
- c.542+130C>G Multiple submitters
- p.Asn256= Multiple submitters
- p.Ser516= Multiple submitters
- p.Val81Ile Multiple submitters
Likely benign 143
- c.112-105C>T Multiple submitters
- c.1356+35C>T Multiple submitters
- c.15+135T>G Multiple submitters
- c.204+109A>G Multiple submitters
- c.542+392C>T Multiple submitters
- c.654-131G>A Multiple submitters
- c.654-84C>T Multiple submitters
- c.705-27C>T Multiple submitters
- c.705-307C>T Multiple submitters
- p.Ala298= Multiple submitters
- p.Arg269= Multiple submitters
- p.Glu155Gly Multiple submitters
- p.Leu286= Multiple submitters
- p.Leu489= Multiple submitters
- p.Thr505= Multiple submitters
- c.1055+15T>C Single submitter
- c.1055+265T>G Single submitter
- c.1055+5AC[2] Single submitter
- c.1056-13G>T Single submitter
- c.1056-19G>A Single submitter
- c.111+147G>A Single submitter
- c.111+279del Single submitter
- c.112-12CT[3] Single submitter
- c.112-5dup Single submitter
- c.1217+182G>A Single submitter
- c.1217+300G>A Single submitter
- c.1218-131G>C Single submitter
- c.1218-7G>A Single submitter
- c.1357-10G>A Single submitter
- c.1357-11C>T Single submitter
- c.1357-18T>A Single submitter
- c.1357-19A>G Single submitter
- c.1357-19A>T Single submitter
- c.1357-4G>A Single submitter
- c.1357-5C>T Single submitter
- c.1440+15G>A Single submitter
- c.1440+17G>C Single submitter
- c.1440+18T>C Single submitter
- c.1441-11C>T Single submitter
- c.1559+17C>T Single submitter
- c.1559+18G>C Single submitter
- c.1560-12G>A Single submitter
- c.1560-8G>T Single submitter
- c.1636+11C>T Single submitter
- c.1636+14G>T Single submitter
- c.1637-6C>T Single submitter
- c.204+14G>A Single submitter
- c.204+94T>A Single submitter
- c.205-14T>C Single submitter
- c.205-224C>T Single submitter
- c.343-78_343-77del Single submitter
- c.486+9G>A Single submitter
- c.487-11C>G Single submitter
- c.487-136G>A Single submitter
- c.487-17C>G Single submitter
- c.51+11G>A Single submitter
- c.51+14C>G Single submitter
- c.51+8C>T Single submitter
- c.52-12C>T Single submitter
- c.52-5G>T Single submitter
- c.52-6C>T Single submitter
- c.542+155A>G Single submitter
- c.542+161G>A Single submitter
- c.542+170C>T Single submitter
- c.542+179C>T Single submitter
- c.542+233C>T Single submitter
- c.542+8T>A Single submitter
- c.543-3C>T Single submitter
- c.592-12G>C Single submitter
- c.592-4A>G Single submitter
- c.653+11C>T Single submitter
- c.654-10C>T Single submitter
- c.654-12C>G Single submitter
- c.654-15C>A Single submitter
- c.654-18T>C Single submitter
- c.654-76C>T Single submitter
- c.704+12C>A Single submitter
- c.704+16C>T Single submitter
- c.704+20C>T Single submitter
- c.704+33G>T Single submitter
- c.704+7A>G Single submitter
- c.704+7AC[2] Single submitter
- c.705-19G>A Single submitter
- c.705-302G>A Single submitter
- c.824+197G>A Single submitter
- c.824+9G>T Single submitter
- c.825-12C>T Single submitter
- c.957-10C>T Single submitter
- c.957-14C>T Single submitter
- c.957-9T>C Single submitter
- c.*1+61G>A Single submitter
- p.Ala129= Single submitter
- p.Ala316= Single submitter
- p.Ala525= Single submitter
- p.Ala530= Single submitter
- p.Ala560= Single submitter
- p.Ala61= Single submitter
- p.Arg310= Single submitter
- p.Arg357= Single submitter
- p.Asn146Ser Single submitter Inborn genetic diseases
- p.Asn540= Single submitter
- p.Asn540Asp Single submitter microcephaly
- p.Asp122Gly Single submitter ⚠
- p.Asp375= Single submitter
- p.Asp559= Single submitter
- p.Asp92= Single submitter
- p.Cys77= Single submitter
- p.Gln330= Single submitter
- p.Glu273= Single submitter
- p.His194= Single submitter
- p.Ile115= Single submitter
- p.Ile73= Single submitter
- p.Leu302= Single submitter
- p.Leu39= Single submitter
- p.Leu446= Single submitter
- p.Leu491= Single submitter
- p.Leu84= Single submitter
- p.Lys411= Single submitter
- p.Lys519= Single submitter
- p.Lys8= Single submitter
- p.Met537Thr Single submitter Inborn genetic diseases
- p.Phe365= Single submitter
- p.Pro128= Single submitter
- p.Pro463= Single submitter
- p.Pro490= Single submitter
- p.Pro51= Single submitter
- p.Pro511= Single submitter
- p.Pro89Ser Single submitter ⚠
- p.Ser264= Single submitter
- p.Ser392= Single submitter
- p.Ser4= Single submitter
- p.Thr113= Single submitter
- p.Thr262= Single submitter
- p.Thr394= Single submitter
- p.Thr513= Single submitter
- p.Tyr130= Single submitter
- p.Tyr188= Single submitter
- p.Tyr274= Single submitter
- p.Tyr413= Single submitter
- p.Val265= Single submitter
- p.Val325= Single submitter
- p.Val506= Single submitter
- p.Leu473= No assertion criteria CDC45-related disorder
Uncertain significance 145
- c.1356+6G>T Multiple submitters Inborn genetic diseases
- c.653+4C>T Multiple submitters Inborn genetic diseases
- p.Ala373Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala38Asp Multiple submitters Inborn genetic diseases ⚠
- p.Arg157His Multiple submitters Inborn genetic diseases ⚠
- p.Arg175Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg251His Multiple submitters Inborn genetic diseases ⚠
- p.Arg277Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg484Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asp124Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp140Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile509Val Multiple submitters Meier-Gorlin syndrome 7 ⚠
- p.Ile547Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys389Glu Multiple submitters Inborn genetic diseases ⚠
- p.Pro490Ser Multiple submitters ⚠
- p.Pro496Leu Multiple submitters Meier-Gorlin syndrome 7 ⚠
- p.Val14Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val249Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val265Met Multiple submitters Inborn genetic diseases ⚠
- p.Val376Met Multiple submitters Inborn genetic diseases ⚠
- c.112-9T>C Single submitter
- c.1217+4G>A Single submitter
- c.1217+6A>T Single submitter
- c.342+4C>G Single submitter
- c.51+5C>T Single submitter
- c.542+127G>T Single submitter
- c.542+148C>A Single submitter Inborn genetic diseases
- c.542+150G>A Single submitter Inborn genetic diseases
- c.542+178T>C Single submitter
- c.542+189A>G Single submitter
- c.542+210A>G Single submitter
- c.542+214C>T Single submitter Inborn genetic diseases
- c.542+220G>A Single submitter
- c.956+3G>A Single submitter
- p.Ala24Gly Single submitter Inborn genetic diseases ⚠
- p.Ala297Thr Single submitter Inborn genetic diseases ⚠
- p.Ala297Val Single submitter Inborn genetic diseases ⚠
- p.Ala298Asp Single submitter Inborn genetic diseases ⚠
- p.Ala29Thr Single submitter Inborn genetic diseases ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg159Leu Single submitter ⚠
- p.Arg159Trp Single submitter Inborn genetic diseases ⚠
- p.Arg170Gln Single submitter ⚠
- p.Arg175Ter Single submitter
- p.Arg180Gln Single submitter ⚠
- p.Arg180Gly Single submitter ⚠
- p.Arg255Gln Single submitter Inborn genetic diseases ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg269Trp Single submitter ⚠
- p.Arg277His Single submitter ⚠
- p.Arg310Gln Single submitter Inborn genetic diseases ⚠
- p.Arg310Trp Single submitter ⚠
- p.Arg341Gln Single submitter ⚠
- p.Arg357Cys Single submitter Inborn genetic diseases ⚠
- p.Arg424Gln Single submitter ⚠
- p.Arg484Gln Single submitter ⚠
- p.Arg485Cys Single submitter ⚠
- p.Arg536Gln Single submitter ⚠
- p.Arg554Gln Single submitter ⚠
- p.Arg554Pro Single submitter Inborn genetic diseases ⚠
- p.Asn105Ser Single submitter ⚠
- p.Asn111= Single submitter Meier-Gorlin syndrome 7
- p.Asn111Asp Single submitter ⚠
- p.Asn483Ser Single submitter Inborn genetic diseases ⚠
- p.Asp122Asn Single submitter Inborn genetic diseases ⚠
- p.Asp132Ala Single submitter Inborn genetic diseases ⚠
- p.Asp136Gly Single submitter Inborn genetic diseases ⚠
- p.Asp140Val Single submitter ⚠
- p.Asp149His Single submitter Inborn genetic diseases ⚠
- p.Asp187Val Single submitter ⚠
- p.Asp390Asn Single submitter ⚠
- p.Asp390Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys267Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys77Ser Single submitter ⚠
- p.Gln114Arg Single submitter ⚠
- p.Gln173His Single submitter ⚠
- p.Gln190Arg Single submitter ⚠
- p.Gln56Lys Single submitter ⚠
- p.Glu152Gln Single submitter ⚠
- p.Glu163Lys Single submitter ⚠
- p.Glu178Val Single submitter Inborn genetic diseases ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu346Gln Single submitter Inborn genetic diseases ⚠
- p.Glu417Gln Single submitter Inborn genetic diseases ⚠
- p.Glu531Gly Single submitter ⚠
- p.Gly54Arg Single submitter Inborn genetic diseases ⚠
- p.His101Arg Single submitter ⚠
- p.His252Asp Single submitter ⚠
- p.His283Gln Single submitter ⚠
- p.His306Pro Single submitter Inborn genetic diseases ⚠
- p.His306Tyr Single submitter Inborn genetic diseases ⚠
- p.His369Asp Single submitter ⚠
- p.His472Asn Single submitter ⚠
- p.Ile115Val Single submitter Inborn genetic diseases ⚠
- p.Ile221Val Single submitter ⚠
- p.Ile562Thr Single submitter Inborn genetic diseases ⚠
- p.Leu125Phe Single submitter ⚠
- p.Leu280Pro Single submitter Inborn genetic diseases ⚠
- p.Leu340Phe Single submitter ⚠
- p.Leu416Val Single submitter Inborn genetic diseases ⚠
- p.Leu423Val Single submitter Inborn genetic diseases ⚠
- p.Leu83Pro Single submitter Inborn genetic diseases ⚠
- p.Lys34Asn Single submitter Inborn genetic diseases ⚠
- p.Lys471Arg Single submitter ⚠
- p.Lys556Gln Single submitter ⚠
- p.Lys66Glu Single submitter Inborn genetic diseases ⚠
- p.Met169Thr Single submitter Inborn genetic diseases ⚠
- p.Met1Leu Single submitter
- p.Met200Ile Single submitter ⚠
- p.Met208Val Single submitter ⚠
- p.Met216Leu Single submitter Inborn genetic diseases ⚠
- p.Met332Ile Single submitter Inborn genetic diseases ⚠
- p.Met332Val Single submitter Inborn genetic diseases ⚠
- p.Met458Ile Single submitter ⚠
- p.Phe2Ile Single submitter ⚠
- p.Phe351Cys Single submitter ⚠
- p.Pro128Ala Single submitter ⚠
- p.Pro511Leu Single submitter Inborn genetic diseases ⚠
- p.Ser148Asn Single submitter Inborn genetic diseases ⚠
- p.Ser151Thr Single submitter Inborn genetic diseases ⚠
- p.Ser197= Single submitter
- p.Ser197Leu Single submitter Inborn genetic diseases ⚠
- p.Ser264Tyr Single submitter Meier-Gorlin syndrome 7 ⚠
- p.Ser289Gly Single submitter Inborn genetic diseases ⚠
- p.Ser432Thr Single submitter ⚠
- p.Ser4Thr Single submitter Inborn genetic diseases ⚠
- p.Ser4Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser555Arg Single submitter Inborn genetic diseases ⚠
- p.Ter567Trp Single submitter
- p.Thr113Ile Single submitter Inborn genetic diseases ⚠
- p.Thr158Ile Single submitter Inborn genetic diseases ⚠
- p.Thr426Ile Single submitter Inborn genetic diseases ⚠
- p.Thr48Met Single submitter Inborn genetic diseases ⚠
- p.Thr503Ile Single submitter Inborn genetic diseases ⚠
- p.Trp218Arg Single submitter Inborn genetic diseases ⚠
- p.Trp303Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr130Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr191Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr274Phe Single submitter Inborn genetic diseases ⚠
- p.Val106= Single submitter Meier-Gorlin syndrome 7
- p.Val19Asp Single submitter Inborn genetic diseases ⚠
- p.Val201Leu Single submitter Inborn genetic diseases ⚠
- p.Val358Met Single submitter ⚠
- p.Val377Ala Single submitter Inborn genetic diseases ⚠
- p.Val439Ile Single submitter Inborn genetic diseases ⚠