PRKD1 — 292 ClinVar variants
All ClinVar germline PRKD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →
2 Pathogenic · 8 Likely pathogenic · 9 Conflicting · 13 Benign · 11 Benign/Likely benign · 50 Likely benign · 199 Uncertain significance
Full PRKD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 187
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- PRKD1 p.Ala20Val Conflicting Single submitter
-
PRKD1 p.Arg216Gly
Conflicting
Single submitter
primary ovarian failure
-
PRKD1 p.Arg603His
Conflicting
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.His106Tyr Conflicting Single submitter
- PRKD1 p.Met372Val Conflicting Single submitter
- PRKD1 p.Met531Thr Conflicting Single submitter
- PRKD1 p.Phe240Cys Conflicting Single submitter
-
PRKD1 p.Val712Met
Conflicting
Single submitter
congenital heart defects and ectodermal dysplasia
Predictors lean, ClinVar uncertain 145
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKD1 p.Arg203Lys Uncertain significance Multiple submitters
-
PRKD1 p.Arg740Gln
Uncertain significance
Multiple submitters
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Asn498Ser Uncertain significance Multiple submitters
-
PRKD1 p.Gln115His
Uncertain significance
Multiple submitters
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Met424Val Uncertain significance Multiple submitters
-
PRKD1 p.Pro545Ser
Uncertain significance
Multiple submitters
PRKD1-related disorder
-
PRKD1 p.Ser354Asn
Uncertain significance
Multiple submitters
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Ser480Pro Uncertain significance Multiple submitters
-
PRKD1 p.Tyr252His
Uncertain significance
Multiple submitters
PRKD1-related disorder
- PRKD1 p.Ala119Val Uncertain significance Single submitter
-
PRKD1 p.Ala148Thr
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Ala158Thr Uncertain significance Single submitter
- PRKD1 p.Ala189Pro Uncertain significance Single submitter
- PRKD1 p.Ala189Thr Uncertain significance Single submitter
- PRKD1 p.Ala26Thr Uncertain significance Single submitter
- PRKD1 p.Ala363Val Uncertain significance Single submitter
- PRKD1 p.Ala36Glu Uncertain significance Single submitter
- PRKD1 p.Ala3Ser Uncertain significance Single submitter
- PRKD1 p.Ala44Val Uncertain significance Single submitter
- PRKD1 p.Ala481Pro Uncertain significance Single submitter
- PRKD1 p.Ala889Val Uncertain significance Single submitter
- PRKD1 p.Arg145Cys Uncertain significance Single submitter
- PRKD1 p.Arg145His Uncertain significance Single submitter
- PRKD1 p.Arg172Cys Uncertain significance Single submitter
- PRKD1 p.Arg203Gly Uncertain significance Single submitter
-
PRKD1 p.Arg216His
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Arg311Cys Uncertain significance Single submitter
-
PRKD1 p.Arg394Lys
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Arg603Leu Uncertain significance Single submitter
- PRKD1 p.Arg618Gln Uncertain significance Single submitter
- PRKD1 p.Arg628Cys Uncertain significance Single submitter
- PRKD1 p.Arg628Pro Uncertain significance Single submitter
- PRKD1 p.Arg677Lys Uncertain significance Single submitter
- PRKD1 p.Arg732Gln Uncertain significance Single submitter
- PRKD1 p.Arg762Cys Uncertain significance Single submitter
-
PRKD1 p.Arg827Cys
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Arg858Cys Uncertain significance Single submitter
- PRKD1 p.Arg858His Uncertain significance Single submitter
- PRKD1 p.Asn701Ser Uncertain significance Single submitter
- PRKD1 p.Asp107Glu Uncertain significance Single submitter
- PRKD1 p.Asp127Asn Uncertain significance Single submitter
- PRKD1 p.Asp447Tyr Uncertain significance Single submitter
- PRKD1 p.Asp559Glu Uncertain significance Single submitter
- PRKD1 p.Asp608Gly Uncertain significance Single submitter
-
PRKD1 p.Asp665Asn
Uncertain significance
Single submitter
prostate cancer
- PRKD1 p.Asp718Glu Uncertain significance Single submitter
- PRKD1 p.Asp831Ala Uncertain significance Single submitter
- PRKD1 p.Asp841Val Uncertain significance Single submitter
- PRKD1 p.Asp86His Uncertain significance Single submitter
- PRKD1 p.Asp86Tyr Uncertain significance Single submitter
- PRKD1 p.Asp893Asn Uncertain significance Single submitter
- PRKD1 p.Cys188Phe Uncertain significance Single submitter
- PRKD1 p.Cys308Gly Uncertain significance Single submitter
- PRKD1 p.Gln376Arg Uncertain significance Single submitter
- PRKD1 p.Gln376His Uncertain significance Single submitter
- PRKD1 p.Gln537Lys Uncertain significance Single submitter
- PRKD1 p.Glu351Lys Uncertain significance Single submitter
- PRKD1 p.Glu361Lys Uncertain significance Single submitter
- PRKD1 p.Glu390Lys Uncertain significance Single submitter
- PRKD1 p.Glu91Lys Uncertain significance Single submitter
- PRKD1 p.Gly164Arg Uncertain significance Single submitter
- PRKD1 p.Gly179Trp Uncertain significance Single submitter
- PRKD1 p.Gly344Val Uncertain significance Single submitter
- PRKD1 p.Gly34Arg Uncertain significance Single submitter
- PRKD1 p.Gly551Ser Uncertain significance Single submitter
- PRKD1 p.Gly599Glu Uncertain significance Single submitter
- PRKD1 p.Gly600Val Uncertain significance Single submitter
- PRKD1 p.Gly70Arg Uncertain significance Single submitter
- PRKD1 p.Gly874Cys Uncertain significance Single submitter
- PRKD1 p.Gly906Ala Uncertain significance Single submitter
-
PRKD1 p.His106Arg
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.His271Arg Uncertain significance Single submitter
- PRKD1 p.His557Leu Uncertain significance Single submitter
- PRKD1 p.His810Asn Uncertain significance Single submitter
- PRKD1 p.His810Pro Uncertain significance Single submitter
- PRKD1 p.His862Arg Uncertain significance Single submitter
- PRKD1 p.Ile451Val Uncertain significance Single submitter
- PRKD1 p.Ile813Val Uncertain significance Single submitter
- PRKD1 p.Ile816Thr Uncertain significance Single submitter
- PRKD1 p.Leu102Pro Uncertain significance Single submitter
- PRKD1 p.Leu13Pro Uncertain significance Single submitter
- PRKD1 p.Leu13Val Uncertain significance Single submitter
-
PRKD1 p.Leu149Val
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Leu356Val Uncertain significance Single submitter
- PRKD1 p.Leu53Val Uncertain significance Single submitter
- PRKD1 p.Leu662Phe Uncertain significance Single submitter
- PRKD1 p.Leu691Phe Uncertain significance Single submitter
- PRKD1 p.Leu725Phe Uncertain significance Single submitter
- PRKD1 p.Leu764Arg Uncertain significance Single submitter
- PRKD1 p.Lys261Arg Uncertain significance Single submitter
- PRKD1 p.Lys288Gln Uncertain significance Single submitter
- PRKD1 p.Lys302Arg Uncertain significance Single submitter
- PRKD1 p.Lys435Arg Uncertain significance Single submitter
- PRKD1 p.Lys464Asn Uncertain significance Single submitter
- PRKD1 p.Lys546Asn Uncertain significance Single submitter
- PRKD1 p.Lys737Arg Uncertain significance Single submitter
- PRKD1 p.Met357Val Uncertain significance Single submitter
- PRKD1 p.Met360Ile Uncertain significance Single submitter
- PRKD1 p.Met360Thr Uncertain significance Single submitter
- PRKD1 p.Met372Thr Uncertain significance Single submitter
- PRKD1 p.Met669Val Uncertain significance Single submitter
- PRKD1 p.Met902Leu Uncertain significance Single submitter
-
PRKD1 p.Met902Thr
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Phe38Val Uncertain significance Single submitter
-
PRKD1 p.Phe649Leu
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Phe728Ile Uncertain significance Single submitter
- PRKD1 p.Phe728Leu Uncertain significance Single submitter
- PRKD1 p.Pro10Leu Uncertain significance Single submitter
- PRKD1 p.Pro146Leu Uncertain significance Single submitter
- PRKD1 p.Pro193Leu Uncertain significance Single submitter
- PRKD1 p.Pro227Ser Uncertain significance Single submitter
- PRKD1 p.Pro230Leu Uncertain significance Single submitter
- PRKD1 p.Pro35Ser Uncertain significance Single submitter
- PRKD1 p.Pro405Ala Uncertain significance Single submitter
- PRKD1 p.Pro45Leu Uncertain significance Single submitter
- PRKD1 p.Pro61Gln Uncertain significance Single submitter
- PRKD1 p.Pro90Ala Uncertain significance Single submitter
- PRKD1 p.Ser223Tyr Uncertain significance Single submitter
- PRKD1 p.Ser239Leu Uncertain significance Single submitter
- PRKD1 p.Ser239Thr Uncertain significance Single submitter
- PRKD1 p.Ser251Pro Uncertain significance Single submitter
- PRKD1 p.Ser337Pro Uncertain significance Single submitter
- PRKD1 p.Ser379Arg Uncertain significance Single submitter
- PRKD1 p.Ser434Thr Uncertain significance Single submitter
- PRKD1 p.Ser549Phe Uncertain significance Single submitter
- PRKD1 p.Ser625Arg Uncertain significance Single submitter
-
PRKD1 p.Ser625Ile
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Ser68Leu Uncertain significance Single submitter
- PRKD1 p.Ser829Arg Uncertain significance Single submitter
- PRKD1 p.Ser829Gly Uncertain significance Single submitter
- PRKD1 p.Thr210Ala Uncertain significance Single submitter
-
PRKD1 p.Thr272Ile
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Thr688Ser Uncertain significance Single submitter
- PRKD1 p.Thr833Asn Uncertain significance Single submitter
- PRKD1 p.Trp428Cys Uncertain significance Single submitter
- PRKD1 p.Tyr598Asp Uncertain significance Single submitter
- PRKD1 p.Val28Gly Uncertain significance Single submitter
- PRKD1 p.Val499Ile Uncertain significance Single submitter
- PRKD1 p.Val524Ile Uncertain significance Single submitter
- PRKD1 p.Val550Met Uncertain significance Single submitter
- PRKD1 p.Val575Met Uncertain significance Single submitter
- PRKD1 p.Val588Gly Uncertain significance Single submitter
- PRKD1 p.Val642Asp Uncertain significance Single submitter
- PRKD1 p.Val754Gly Uncertain significance Single submitter
-
PRKD1 p.Gln297Arg
Uncertain significance
No assertion criteria
PRKD1-related disorder
Predictors split 34
The independent predictors disagree with each other — read with care.
-
PRKD1 p.Ala529Thr
Uncertain significance
Multiple submitters
congenital heart defects and ectodermal dysplasia
-
PRKD1 p.Gly486Arg
Uncertain significance
Multiple submitters
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Ile808Val Benign/Likely benign Multiple submitters
- PRKD1 p.Thr496Met Uncertain significance Multiple submitters
-
PRKD1 p.Ala21Pro
Uncertain significance
Single submitter
PRKD1-related disorder
- PRKD1 p.Ala22Gly Uncertain significance Single submitter
- PRKD1 p.Ala313Thr Likely benign Single submitter
- PRKD1 p.Ala313Val Uncertain significance Single submitter
-
PRKD1 p.Arg441Gln
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Asn757Ser Uncertain significance Single submitter
- PRKD1 p.Asn818Ser Uncertain significance Single submitter
- PRKD1 p.Cys92Tyr Uncertain significance Single submitter
- PRKD1 p.Glu875Lys Uncertain significance Single submitter
- PRKD1 p.Gly328Arg Uncertain significance Single submitter
- PRKD1 p.Gly641Ser Uncertain significance Single submitter
- PRKD1 p.Gly856Arg Uncertain significance Single submitter
- PRKD1 p.Gly96Glu Uncertain significance Single submitter
- PRKD1 p.His862Leu Uncertain significance Single submitter
- PRKD1 p.Ile633Val Uncertain significance Single submitter
- PRKD1 p.Ile855Asn Likely benign Single submitter
- PRKD1 p.Leu815Val Uncertain significance Single submitter
- PRKD1 p.Leu848Val Uncertain significance Single submitter
-
PRKD1 p.Lys661Arg
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
-
PRKD1 p.Met166Val
Uncertain significance
Single submitter
congenital heart defects and ectodermal dysplasia
- PRKD1 p.Met407Ile Uncertain significance Single submitter
- PRKD1 p.Phe89Leu Uncertain significance Single submitter
- PRKD1 p.Pro90Ser Likely benign Single submitter
- PRKD1 p.Ser197Arg Uncertain significance Single submitter
- PRKD1 p.Ser197Cys Uncertain significance Single submitter
- PRKD1 p.Ser213Arg Uncertain significance Single submitter
- PRKD1 p.Thr496Ala Uncertain significance Single submitter
- PRKD1 p.Tyr98His Uncertain significance Single submitter
- PRKD1 p.Val131Ala Uncertain significance Single submitter
- PRKD1 p.Val631Ala Uncertain significance Single submitter
All PRKD1 variants
Pathogenic 2
- p.Gly592Arg No assertion criteria congenital heart defects and ectodermal dysplasia
- p.Leu299Trp No assertion criteria congenital heart defects and ectodermal dysplasia
Likely pathogenic 8
- c.1905+2T>A Single submitter congenital heart defects and ectodermal dysplasia
- c.1906-1G>T Single submitter congenital heart defects and ectodermal dysplasia
- c.265-1G>T Single submitter congenital heart defects and ectodermal dysplasia
- p.Arg439Gln Single submitter congenital heart defects and ectodermal dysplasia
- p.Arg603Cys Single submitter congenital heart defects and ectodermal dysplasia
- p.Gly595Arg Single submitter congenital heart defects and ectodermal dysplasia
- p.Gly676fs Single submitter congenital heart defects and ectodermal dysplasia
- p.Ile614Thr Single submitter
Conflicting classifications of pathogenicity 9
- p.Ala20Val Single submitter ⚠
- p.Arg216Gly Single submitter primary ovarian failure ⚠
- p.Arg603His Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.His106Tyr Single submitter ⚠
- p.Met372Val Single submitter ⚠
- p.Met531Thr Single submitter ⚠
- p.Phe240Cys Single submitter ⚠
- p.Thr452= Single submitter
- p.Val712Met Single submitter congenital heart defects and ectodermal dysplasia ⚠
Benign 13
- c.1191-6C>T Multiple submitters
- c.2166+39A>C Multiple submitters congenital heart defects and ectodermal dysplasia
- c.2167-12T>A Multiple submitters congenital heart defects and ectodermal dysplasia
- c.2435-14G>A Multiple submitters congenital heart defects and ectodermal dysplasia
- c.265-19A>G Multiple submitters
- p.Asn886Ser Multiple submitters
- p.Ile734= Multiple submitters congenital heart defects and ectodermal dysplasia
- p.His891Arg Single submitter
- p.Leu819= Single submitter
- p.Met341Leu Single submitter
- p.Pro585Leu Single submitter congenital heart defects and ectodermal dysplasia
- p.Ser31_Gly32dup Single submitter
- p.Pro314= No assertion criteria PRKD1-related disorder
Benign/Likely benign 11
- c.1315-8T>C Multiple submitters
- c.1392+6A>G Multiple submitters
- c.265-5T>C Multiple submitters congenital heart defects and ectodermal dysplasia
- c.908-7G>A Multiple submitters
- p.Asn206= Multiple submitters
- p.Gly380= Multiple submitters
- p.Gly906= Multiple submitters
- p.Ile808Val Multiple submitters ⚠
- p.Leu474= Multiple submitters
- p.Pro35= Multiple submitters
- p.Thr651= Multiple submitters
Likely benign 50
- p.Ala481Thr Multiple submitters congenital heart defects and ectodermal dysplasia
- p.Ile855= Multiple submitters
- p.Leu7Pro Multiple submitters
- p.Pro5= Multiple submitters
- c.1672+14T>A Single submitter
- c.1725+16C>T Single submitter
- c.1726-5del Single submitter
- c.264+13A>G Single submitter
- c.264+18T>G Single submitter
- c.264+7C>G Single submitter
- c.536-8C>A Single submitter
- c.-5G>A Single submitter
- c.-9C>A Single submitter
- p.Ala19= Single submitter
- p.Ala313Thr Single submitter ⚠
- p.Ala43= Single submitter
- p.Arg908His Single submitter
- p.Asn377= Single submitter
- p.Cys163= Single submitter
- p.Cys320= Single submitter
- p.Gln124= Single submitter
- p.Glu493Lys Single submitter
- p.Glu736= Single submitter
- p.Gly126= Single submitter
- p.Gly32= Single submitter
- p.Gly592= Single submitter
- p.Gly779Ser Single submitter
- p.His790= Single submitter
- p.Ile855Asn Single submitter ⚠
- p.Leu13= Single submitter
- p.Leu170= Single submitter
- p.Leu57= Single submitter
- p.Leu64= Single submitter
- p.Pro146= Single submitter
- p.Pro270= Single submitter
- p.Pro90Ser Single submitter ⚠
- p.Ser197= Single submitter
- p.Thr109= Single submitter
- p.Thr400= Single submitter
- p.Trp845Ter Single submitter intellectual disability
- p.Tyr859Cys Single submitter congenital heart defects and ectodermal dysplasia
- p.Tyr95= Single submitter
- p.Val46Ala Single submitter
- p.Val543Ile Single submitter
- p.Val743= Single submitter
- c.1393-10del No assertion criteria PRKD1-related disorder
- p.Ala873= No assertion criteria PRKD1-related disorder
- p.Glu646= No assertion criteria PRKD1-related disorder
- p.Pro542= No assertion criteria PRKD1-related disorder
- p.Thr224Arg No assertion criteria
Uncertain significance 199
- p.Ala529Thr Multiple submitters congenital heart defects and ectodermal dysplasia ⚠
- p.Arg201Trp Multiple submitters
- p.Arg203Lys Multiple submitters ⚠
- p.Arg740Gln Multiple submitters congenital heart defects and ectodermal dysplasia ⚠
- p.Asn498Ser Multiple submitters ⚠
- p.Gln115His Multiple submitters congenital heart defects and ectodermal dysplasia ⚠
- p.Gly486Arg Multiple submitters congenital heart defects and ectodermal dysplasia ⚠
- p.Met424Val Multiple submitters ⚠
- p.Pro545Ser Multiple submitters PRKD1-related disorder ⚠
- p.Ser354Asn Multiple submitters congenital heart defects and ectodermal dysplasia ⚠
- p.Ser480Pro Multiple submitters ⚠
- p.Thr496Met Multiple submitters ⚠
- p.Tyr252His Multiple submitters PRKD1-related disorder ⚠
- c.2068-11C>A Single submitter congenital heart defects and ectodermal dysplasia
- c.264+2T>C Single submitter congenital heart defects and ectodermal dysplasia
- p.Ala119Val Single submitter ⚠
- p.Ala137Val Single submitter
- p.Ala148Thr Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Ala158Thr Single submitter ⚠
- p.Ala189Pro Single submitter ⚠
- p.Ala189Thr Single submitter ⚠
- p.Ala21Pro Single submitter PRKD1-related disorder ⚠
- p.Ala22Gly Single submitter ⚠
- p.Ala26Thr Single submitter ⚠
- p.Ala313Val Single submitter ⚠
- p.Ala363Val Single submitter ⚠
- p.Ala36Glu Single submitter ⚠
- p.Ala3Ser Single submitter ⚠
- p.Ala44Val Single submitter ⚠
- p.Ala481Pro Single submitter ⚠
- p.Ala889Val Single submitter ⚠
- p.Arg105His Single submitter
- p.Arg145Cys Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg172Cys Single submitter ⚠
- p.Arg203fs Single submitter
- p.Arg203Gly Single submitter ⚠
- p.Arg216His Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Arg311Cys Single submitter ⚠
- p.Arg394Lys Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Arg441Gln Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Arg603Leu Single submitter ⚠
- p.Arg618Gln Single submitter ⚠
- p.Arg618Ter Single submitter
- p.Arg628Cys Single submitter ⚠
- p.Arg628Pro Single submitter ⚠
- p.Arg677Lys Single submitter ⚠
- p.Arg732Gln Single submitter ⚠
- p.Arg762Cys Single submitter ⚠
- p.Arg827Cys Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Arg858Cys Single submitter ⚠
- p.Arg858His Single submitter ⚠
- p.Asn701Ser Single submitter ⚠
- p.Asn757Ser Single submitter ⚠
- p.Asn818Ser Single submitter ⚠
- p.Asp107Glu Single submitter ⚠
- p.Asp127Asn Single submitter ⚠
- p.Asp447Tyr Single submitter ⚠
- p.Asp559Glu Single submitter ⚠
- p.Asp608Gly Single submitter ⚠
- p.Asp665Asn Single submitter prostate cancer ⚠
- p.Asp718Glu Single submitter ⚠
- p.Asp831Ala Single submitter ⚠
- p.Asp841Val Single submitter ⚠
- p.Asp86His Single submitter ⚠
- p.Asp86Tyr Single submitter ⚠
- p.Asp893Asn Single submitter ⚠
- p.Cys188Phe Single submitter ⚠
- p.Cys308Gly Single submitter ⚠
- p.Cys647Tyr Single submitter
- p.Cys92Tyr Single submitter ⚠
- p.Gln376Arg Single submitter ⚠
- p.Gln376His Single submitter ⚠
- p.Gln537Lys Single submitter ⚠
- p.Gln843fs Single submitter
- p.Gln876Ter Single submitter congenital heart defects and ectodermal dysplasia
- p.Gln87His Single submitter
- p.Glu351Lys Single submitter ⚠
- p.Glu361Lys Single submitter ⚠
- p.Glu390Lys Single submitter ⚠
- p.Glu875Lys Single submitter ⚠
- p.Glu91Lys Single submitter ⚠
- p.Gly164Arg Single submitter ⚠
- p.Gly179Trp Single submitter ⚠
- p.Gly328Arg Single submitter ⚠
- p.Gly344Val Single submitter ⚠
- p.Gly34Arg Single submitter ⚠
- p.Gly551Ser Single submitter ⚠
- p.Gly599Glu Single submitter ⚠
- p.Gly600Val Single submitter ⚠
- p.Gly641Ser Single submitter ⚠
- p.Gly70Arg Single submitter ⚠
- p.Gly856Arg Single submitter ⚠
- p.Gly874Cys Single submitter ⚠
- p.Gly906Ala Single submitter ⚠
- p.Gly96Glu Single submitter ⚠
- p.His106Arg Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.His271Arg Single submitter ⚠
- p.His557Leu Single submitter ⚠
- p.His810Asn Single submitter ⚠
- p.His810Pro Single submitter ⚠
- p.His862Arg Single submitter ⚠
- p.His862Leu Single submitter ⚠
- p.Ile451Val Single submitter ⚠
- p.Ile633Val Single submitter ⚠
- p.Ile813Val Single submitter ⚠
- p.Ile816Thr Single submitter ⚠
- p.Leu102Pro Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu13Val Single submitter ⚠
- p.Leu149Val Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Leu356Val Single submitter ⚠
- p.Leu453Phe Single submitter
- p.Leu53Val Single submitter ⚠
- p.Leu662Phe Single submitter ⚠
- p.Leu691Phe Single submitter ⚠
- p.Leu725Phe Single submitter ⚠
- p.Leu764Arg Single submitter ⚠
- p.Leu815Val Single submitter ⚠
- p.Leu848Val Single submitter ⚠
- p.Lys261Arg Single submitter ⚠
- p.Lys268Ter Single submitter PRKD1-related disorder
- p.Lys288Gln Single submitter ⚠
- p.Lys302Arg Single submitter ⚠
- p.Lys435Arg Single submitter ⚠
- p.Lys464Asn Single submitter ⚠
- p.Lys546Asn Single submitter ⚠
- p.Lys661Arg Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Lys737Arg Single submitter ⚠
- p.Met166Val Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Met357Val Single submitter ⚠
- p.Met360Ile Single submitter ⚠
- p.Met360Thr Single submitter ⚠
- p.Met372Thr Single submitter ⚠
- p.Met407Ile Single submitter ⚠
- p.Met669Val Single submitter ⚠
- p.Met902Leu Single submitter ⚠
- p.Met902Thr Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Phe38Val Single submitter ⚠
- p.Phe649Leu Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Phe728Ile Single submitter ⚠
- p.Phe728Leu Single submitter ⚠
- p.Phe89Leu Single submitter ⚠
- p.Pro10Leu Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro193Leu Single submitter ⚠
- p.Pro227Ser Single submitter ⚠
- p.Pro230Leu Single submitter ⚠
- p.Pro35Ser Single submitter ⚠
- p.Pro405Ala Single submitter ⚠
- p.Pro45fs Single submitter congenital heart defects and ectodermal dysplasia
- p.Pro45Leu Single submitter ⚠
- p.Pro61Gln Single submitter ⚠
- p.Pro620fs Single submitter
- p.Pro90Ala Single submitter ⚠
- p.Ser197Arg Single submitter ⚠
- p.Ser197Cys Single submitter ⚠
- p.Ser213Arg Single submitter ⚠
- p.Ser223Tyr Single submitter ⚠
- p.Ser239Leu Single submitter ⚠
- p.Ser239Thr Single submitter ⚠
- p.Ser251Pro Single submitter ⚠
- p.Ser337Pro Single submitter ⚠
- p.Ser379Arg Single submitter ⚠
- p.Ser420= Single submitter
- p.Ser434Thr Single submitter ⚠
- p.Ser549Phe Single submitter ⚠
- p.Ser625Arg Single submitter ⚠
- p.Ser625Ile Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Ser672Leu Single submitter
- p.Ser673Asn Single submitter
- p.Ser68Leu Single submitter ⚠
- p.Ser829Arg Single submitter ⚠
- p.Ser829Gly Single submitter ⚠
- p.Thr210Ala Single submitter ⚠
- p.Thr272Ile Single submitter congenital heart defects and ectodermal dysplasia ⚠
- p.Thr496Ala Single submitter ⚠
- p.Thr651Met Single submitter
- p.Thr688Ser Single submitter ⚠
- p.Thr833Asn Single submitter ⚠
- p.Trp428Cys Single submitter ⚠
- p.Tyr598Asp Single submitter ⚠
- p.Tyr760= Single submitter
- p.Tyr98His Single submitter ⚠
- p.Val131Ala Single submitter ⚠
- p.Val28Gly Single submitter ⚠
- p.Val499Ile Single submitter ⚠
- p.Val524Ile Single submitter ⚠
- p.Val550Met Single submitter ⚠
- p.Val575Met Single submitter ⚠
- p.Val588Gly Single submitter ⚠
- p.Val631Ala Single submitter ⚠
- p.Val642Asp Single submitter ⚠
- p.Val643del Single submitter
- p.Val754Gly Single submitter ⚠
- p.Arg408_Val409insTer No assertion criteria PRKD1-related disorder
- p.Gln297Arg No assertion criteria PRKD1-related disorder ⚠
- p.Gln537Ter No assertion criteria PRKD1-related disorder
- p.His891fs No assertion criteria PRKD1-related disorder