PRKDC — 4680 ClinVar variants

All ClinVar germline PRKDC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1694 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 59 Conflicting · 86 Benign · 73 Benign/Likely benign · 1905 Likely benign · 2554 Uncertain significance

Full PRKDC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1694

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 33

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

PRKDC p.Ala101Thr Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala1161Thr Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala1278Val Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala211Thr Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala3057Asp Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala3076Thr Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala549Thr Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1031Gln Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1987His Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2065His Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2072Gln Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2940His Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg3474Gln Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg3593Lys Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln2301Glu Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln3148Glu Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Glu889Asp Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu2402Phe Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys1311Glu Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Met238Val Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro2110Leu Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro2139Ser Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser1300Gly Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser141Cys Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Thr874Ala Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Tyr1437Cys Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Tyr883Cys Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Val1211Ile Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Val1452Leu Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Val1479Leu Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Val291Met Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Val352Met Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Val3592Leu Conflicting Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency

Predictors lean, ClinVar uncertain 1567

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1567

PRKDC p.Ala1008Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala1103Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala1130Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala1130Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala2095Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala2346Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala279Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala328Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala331Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala3391Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala3441Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala378Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala378Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala3854Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala510Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala549Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala609Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala615Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala715Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala817Pro Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala945Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1031Trp Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1136Cys Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1445Met Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1527His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1727Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1986Cys Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg1986His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg198His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2067Trp Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2069Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2628His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg3287Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg3759Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg3763His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg459Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg509Cys Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg509His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg820Trp Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg888Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg891Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg891Trp Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg899Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg964Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asn1268Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asn2176Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asn233Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asn325Ile Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asn3697Asp Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asn4000Asp Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asn811Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asn867His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asp1015Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asp1027Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asp744Asn Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asp744Glu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asp781Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asp807Glu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Asp877His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln1048Arg Uncertain significance Multiple submitters
PRKDC p.Gln1231Glu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln1231His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln339His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln415Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln448Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln448His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln656His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln960Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gln98Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Glu1050Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Glu1139Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Glu1299Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Glu172Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Glu513Lys Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Glu844Lys Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly1387Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly1513Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly1544Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly2109Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly2652Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly2718Asp Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly3071Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly347Glu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly3861Asp Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly512Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Gly954Glu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.His1304Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.His1459Tyr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.His833Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile1013Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile1106Met Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile1188Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile132Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile1676Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile1843Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile2193Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile256Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile3328Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile363Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile4059Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile544Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile654Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile851Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu1241Phe Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu230His Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu2725Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu277Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu438Ile Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu733Phe Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu793Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu805Ser Uncertain significance Multiple submitters
PRKDC p.Leu934Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys1038Glu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys1119Asn Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys205Glu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys2702Glu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys2786Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys335Gln Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys668Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys832Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Met1757Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Met395Val Uncertain significance Multiple submitters
PRKDC p.Met880Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Met880Val Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe3110Cys Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe446Tyr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro102Ser Uncertain significance Multiple submitters
PRKDC p.Pro1810Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro242Leu Uncertain significance Multiple submitters
PRKDC p.Pro2666Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro3399Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro494Ala Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro522Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro698Ala Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser1079Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser1233Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser1409Phe Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser1813Asn Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser187Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser2654Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser3982Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser536Asn Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser559Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser621Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser694Phe Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser75Gly Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser841Ala Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser893Asn Uncertain significance Multiple submitters
PRKDC p.Thr1024Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Thr1223Ile Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency

Predictors split 94

The independent predictors disagree with each other — read with care.

PRKDC p.Leu3997Pro Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe1194Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe153Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe396Ser Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe568Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe63Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe704Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe995Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro764Arg Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro764Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Pro967Thr Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ser664Asn Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Tyr1086Cys Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Val1096Leu Uncertain significance Multiple submitters
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ala3511Asp Uncertain significance Single submitter
PRKDC p.Ala3511Val Uncertain significance Single submitter
PRKDC p.Ala3909Ser Uncertain significance Single submitter
PRKDC p.Ala3990Val Uncertain significance Single submitter
PRKDC p.Ala418Thr Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2000Ser Uncertain significance Single submitter
PRKDC p.Arg2090Pro Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2729Cys Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg2731Trp Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg3629Ser Uncertain significance Single submitter
PRKDC p.Arg3725Trp Uncertain significance Single submitter
PRKDC p.Arg3741Cys Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg3965Cys Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg3965His Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Arg852Ser Uncertain significance Single submitter
PRKDC p.Arg981Gly Uncertain significance Single submitter
PRKDC p.Asn4055Asp Uncertain significance Single submitter
PRKDC p.Asp2801Glu Uncertain significance Single submitter
PRKDC p.Cys42Tyr Uncertain significance Single submitter
PRKDC p.Cys491Trp Uncertain significance Single submitter
PRKDC p.Cys491Tyr Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Glu1002Asp Uncertain significance Single submitter
PRKDC p.Glu159Lys Uncertain significance Single submitter
PRKDC p.Gly2701Glu Uncertain significance Single submitter
PRKDC p.Gly2815Glu Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.His1133Tyr Uncertain significance Single submitter
PRKDC p.His1185Arg Uncertain significance Single submitter
PRKDC p.Ile2521Asn Uncertain significance Single submitter
PRKDC p.Ile3336Thr Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Ile663Phe Uncertain significance Single submitter
PRKDC p.Leu3254Arg Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Leu579Phe Uncertain significance Single submitter
PRKDC p.Leu942Phe Uncertain significance Single submitter
PRKDC p.Lys1057Asn Uncertain significance Single submitter
PRKDC p.Lys1074Asn Uncertain significance Single submitter
PRKDC p.Lys124Glu Uncertain significance Single submitter
PRKDC p.Lys1334Ile Uncertain significance Single submitter
PRKDC p.Lys2001Met Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Lys205Asn Uncertain significance Single submitter
PRKDC p.Lys393Asn Uncertain significance Single submitter
PRKDC p.Lys999Asn Uncertain significance Single submitter
PRKDC p.Met189Ile Uncertain significance Single submitter
PRKDC p.Met2085Ile Uncertain significance Single submitter
PRKDC p.Met208Ile Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe1060Leu Uncertain significance Single submitter
PRKDC p.Phe147Leu Uncertain significance Single submitter
PRKDC p.Phe1559Leu Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe156Leu Uncertain significance Single submitter
PRKDC p.Phe1661Leu Uncertain significance Single submitter
PRKDC p.Phe1855Leu Uncertain significance Single submitter
PRKDC p.Phe197Leu Uncertain significance Single submitter
PRKDC p.Phe2300Leu Conflicting Single submitter
PRKDC-related disorder
PRKDC p.Phe2851Leu Uncertain significance Single submitter
PRKDC p.Phe3382Leu Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe3554Leu Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe396Leu Uncertain significance Single submitter
PRKDC p.Phe641Leu Uncertain significance Single submitter
PRKDC p.Phe649Leu Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Phe666Leu Uncertain significance Single submitter
PRKDC p.Phe732Leu Uncertain significance Single submitter
PRKDC p.Phe78Leu Uncertain significance Single submitter
PRKDC p.Phe898Leu Uncertain significance Single submitter
PRKDC p.Pro2793Thr Uncertain significance Single submitter
PRKDC p.Pro4114Ser Uncertain significance Single submitter
PRKDC p.Pro903Leu Uncertain significance Single submitter
PRKDC p.Pro967Leu Uncertain significance Single submitter
PRKDC p.Pro967Ser Uncertain significance Single submitter
PRKDC p.Ser3500Arg Uncertain significance Single submitter
PRKDC p.Ser3902Cys Uncertain significance Single submitter
PRKDC p.Ser3948Cys Uncertain significance Single submitter
PRKDC p.Ser412Arg Uncertain significance Single submitter
PRKDC p.Ser480Arg Uncertain significance Single submitter
PRKDC p.Ser936Asn Uncertain significance Single submitter
PRKDC p.Thr2035Ile Uncertain significance Single submitter
PRKDC p.Thr2047Ile Uncertain significance Single submitter
PRKDC p.Thr55Pro Uncertain significance Single submitter
severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC p.Thr965Lys Uncertain significance Single submitter
PRKDC p.Val1096Met Uncertain significance Single submitter
PRKDC p.Val381Phe Uncertain significance Single submitter
PRKDC p.Val714Leu Uncertain significance Single submitter

All PRKDC variants

Pathogenic 2

p.Leu3062Arg Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3574Val No assertion criteria severe combined immunodeficiency due to DNA-PKcs deficiency

Likely pathogenic 1

p.Phe1863fs Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency

Conflicting classifications of pathogenicity 59

c.12183-5del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.1497+5A>C Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.2781+5T>C Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.4413+7A>G Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.509-4T>G Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.5571+5C>T Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.5572-4G>A Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala101Thr Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala1161Thr Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala1278Val Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala1393Asp Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala211Thr Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala2611= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3057Asp Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala3076Thr Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala549Thr Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg1031Gln Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg1987His Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg2065His Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg2072Gln Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg2596His Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg2940His Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg3474Gln Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg3593Lys Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg3746Lys Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln2301Glu Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln3148Glu Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Glu889Asp Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly3936Ser Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1707Gln Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu2337Pro Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu2402Phe Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu3900Val Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys1311Glu Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys1591= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys2928= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Met238Val Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe1248= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe2300Leu Single submitter PRKDC-related disorder ⚠
p.Phe2360= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro2110Leu Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro2139Ser Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro2457= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro2604= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser104= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser1300Gly Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser141Cys Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser1853= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser571= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser657= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr874Ala Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Tyr1437Cys Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Tyr883Cys Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val1211Ile Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val1452Leu Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val1479Leu Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val291Met Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val352Met Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val3592Leu Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency ⚠

Benign 86

c.10297+89G>C Multiple submitters
c.10458+114C>T Multiple submitters
c.10459-273A>C Multiple submitters
c.10902+138C>T Multiple submitters
c.11108-228A>G Multiple submitters
c.11176-51G>A Multiple submitters
c.11176-52A>C Multiple submitters
c.12042+61T>C Multiple submitters
c.12182+39G>A Multiple submitters
c.1448-87A>C Multiple submitters
c.2140-13_2140-11del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.2781+79T>C Multiple submitters
c.2934+5G>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.324+193G>T Multiple submitters
c.324+198A>T Multiple submitters
c.4413+39T>C Multiple submitters
c.4963-90A>G Multiple submitters
c.508+110A>C Multiple submitters
c.5572-51G>A Multiple submitters
c.6059-94G>A Multiple submitters
c.8578-18G>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9557+51G>A Multiple submitters
c.967-71G>A Multiple submitters
c.9922+13C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln1603His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.10759-11del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.10759-11dup Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.1114-281dup Single submitter
c.11176-16A>G Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.11490-13del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.12042+181T>C Single submitter
c.12043-242dup Single submitter
c.12183-5dup Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.1279-180GT[3] Single submitter
c.1448-4dup Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.155-13dup Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.155-192_155-191del Single submitter
c.155-20T>C Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.1623+267G>A Single submitter
c.1777-710del Single submitter
c.1893-317C>T Single submitter
c.2052+258G>A Single submitter
c.2781+127del Single submitter
c.3042+336C>G Single submitter
c.325-10del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.3270-120A>G Single submitter
c.3599-5dup Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.400-267C>G Single submitter
c.4071+101TAT[10] Single submitter
c.4071+101TAT[8] Single submitter
c.4072-263C>T Single submitter
c.4072-8T>C Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.4281-14del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.4777-248G>A Single submitter
c.5067+329_5067+332del Single submitter
c.5235+10T>A Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.5236-5dup Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.5572-13dup Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.5750+20del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.5751-103G>A Single submitter
c.6208-127C>T Single submitter
c.6346-47A>G Single submitter
c.6761+223C>T Single submitter
c.6761+265G>C Single submitter
c.6894-16del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.7005+145A>G Single submitter
c.7454+19_7454+20del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.7455-275C>T Single submitter
c.7952-292_7952-290dup Single submitter
c.8398-263T>C Single submitter
c.9446-278G>T Single submitter
c.9557+265C>T Single submitter
p.Ala2681= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala2805= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg1245fs Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg1245Gln Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg1245Trp Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp3922= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1244Pro Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1695= Single submitter
p.Leu1696Arg Single submitter PRKDC-related disorder
p.Leu3584Phe Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro3836Leu Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser3010= Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser3541= Single submitter
p.Thr3198Ser Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency

Benign/Likely benign 73

c.10297+13T>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.10759-11T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1448-15dup Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1623+6A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1893-12T>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.3042+18C>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.325-19dup Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.4072-12_4072-9del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.509-4T>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.5919+16G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.622-19_622-17del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.6346-105A>G Multiple submitters
c.6762-19C>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.7554-16del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.8577+17C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9337-4del Multiple submitters
c.9337-5_9337-4del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9337-6_9337-4del Multiple submitters
c.9557+8G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9558-8T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.967-10G>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9923-17dup Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9923-28GTTTT[2] Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala1441Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala2147= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala2317= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn1071Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn3311= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn3459Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn843= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp3778= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp404= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Cys3403Tyr Multiple submitters
p.Glu513= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly1314Cys Multiple submitters PRKDC-related disorder
p.Gly1314Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly2113del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly3149Asp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly3404Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly3861= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly3935= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile3434Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile680Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1244fs Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1532Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1696= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu2097= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu3049= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu3073Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu3562Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu4107= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys1074= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys637= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Met333Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe3542= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe446Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro2119Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro3201Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro695Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser2023Pro Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser3779= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr605Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr1332Asn Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr1437= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr2160= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr2312= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr4046= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1105= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1434Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val3433Ala Multiple submitters
p.Val3793= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val3793Ala Multiple submitters PRKDC-related disorder
p.Val576= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency

Likely benign 1905

Showing the top 300 by review status; the full set is in the sitemap.

c.10116+11A>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.10298-12T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.10670+11T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.10758+14G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.10759-12T>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1114-12C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.11176-22G>T Multiple submitters
c.11176-288A>G Multiple submitters
c.11490-252G>A Multiple submitters
c.11579+11T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.11853+19C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.12042+7T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.12182+19G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.12183-93G>C Multiple submitters
c.1278+8A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1279-6C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1447+10C>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1447+12A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1448-17T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1892+17T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.1892+18A>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.232-20A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.2420-15G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.2526+8G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.2935-54C>T Multiple submitters
c.325-9A>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.3270-12T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.3270-17T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.3270-19C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.3365-16C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.3464+12T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.3598+15A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.399+15A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.4071+245C>T Multiple submitters
c.4280+21C>T Multiple submitters
c.4413+98C>T Multiple submitters
c.4572+12G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.4777-13G>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.4777-5C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.4962+8A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.4963-9T>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.5236-10T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.5919+15C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.5985+17A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.5986-5A>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.6058+28G>A Multiple submitters
c.6059-82T>C Multiple submitters
c.6207+16A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.6208-4G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.6466-9C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.6610-12G>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.7454+11C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.7454+19A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.7455-11_7455-10del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.777+12A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.778-31A>G Multiple submitters
c.7951+18C>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.808+17A>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.809-16G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.8266-10G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.8923-18T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9112-19A>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9112-20T>G Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9112-68G>A Multiple submitters
c.9337-24dup Multiple submitters
c.9557+4A>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.9922+12G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala1114= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala1237Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala1262= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala1536= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala1595= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala266= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala2719= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala279= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala28= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala328= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3338= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3375= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala362= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala370= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3826= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3896= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3945= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala4052= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala49= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala597= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala609= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala822= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala918= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala973= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg1034Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg142= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg198= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg3708= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg3784= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg406= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg888= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg913= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg981= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn1083= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn1989= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn351= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn377= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn554= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn739= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn74= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn811= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp1015= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp1019= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp118= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp168= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp2073= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp2116= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp2284= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp2289= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp2594= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp3026= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp3591= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp3706= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp382= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp401= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp444= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp807= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp908= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Cys2469Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Cys3286= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Cys392= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Cys81= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln1898= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln415= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln656= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln720= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln865= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1035= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu106= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1088= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1097= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1225= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1310= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1328= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu183= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu2114= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu332= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu3352= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu3368= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu3895= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu41= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu504= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu577= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu628= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu632= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu80= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly1030= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly1216= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly222= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly3408= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly3626= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly472= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly64= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly685= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.His1133= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.His3748= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.His993= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile100= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile1017= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile1044= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile2361= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile3374= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile363= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile3774= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile488= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile575= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile603= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile740= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile85= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1134= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1197= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1241= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu131= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1572= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1580= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu181= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu201= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu2303= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu2693= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu2726= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu274= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu297= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu3053= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu3321= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu359= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu397= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu435= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu438= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu455= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu475= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu530= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu581= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu670= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu733= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu743= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu773= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu834= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu862= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu983= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys1000= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys1150= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys2758= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys2764= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys3075= Multiple submitters PRKDC-related disorder
p.Lys4019= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys463= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys520= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys824= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys832= Multiple submitters
p.Lys890= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys902= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe1722= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe2371= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe63= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe732= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe78= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe898= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe910= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro1020= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro1154= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro1239= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro1810= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro2119= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro372= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro3973= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro447= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro912= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro957= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro986= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser1065= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser1079= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser1162= Multiple submitters
p.Ser1233= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser140= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser1409= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser2027= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser228= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser2654= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser2677= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser3279= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser3537= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser354= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser3779Phe Multiple submitters PRKDC-related disorder
p.Ser3914= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser412= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser419= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser536= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser555= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser606= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser650= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ser671= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr1181= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr1842= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr206= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr2075= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr2645= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr3547= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr481= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr523= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr582= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr673= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr874= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr920= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr946= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr965= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr103= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr1107= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr1920= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr1940= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr265= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr2743= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr2775= Multiple submitters PRKDC-related disorder
p.Tyr290= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr385= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr527= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr667= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr748= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr789= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr962= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1169= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1195Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1211= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1337Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1338= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1587= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val1596= Multiple submitters PRKDC-related disorder
p.Val174= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val252= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val296= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val352= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val43= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val434= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Val456= Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency

Uncertain significance 2554

Showing the top 300 by review status; the full set is in the sitemap.

c.2259+6C>T Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.3464+4G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.5235+6T>C Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
c.5919+5G>A Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala1008Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala1103Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala1130Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala1130Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala1380Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala2095Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala2318Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala2346Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala279Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala315Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala328Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala331Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala3391Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala3441Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala370Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3720Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala378Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala378Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala3854Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala3905Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala3949Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala510Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala549Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala609Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala615Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala715Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala751Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ala817Pro Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala918Val Multiple submitters
p.Ala945Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ala973Val Multiple submitters
p.Arg1031Trp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg1062Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg1136Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg1445Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg1527His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg1727Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg1822Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg1986Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg1986His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg198Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg198His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg2067Trp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg2069Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg2090Trp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg2158His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg2452Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg2628His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg2731Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg2776Trp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg3247Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg3282His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg3287Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg3287Trp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg3425Leu Multiple submitters PRKDC-related disorder
p.Arg3759Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg3763His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg3864His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg391Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Arg459Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg509Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg509His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg820Trp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg888Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg891Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg891Trp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg899Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Arg964Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asn1268Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asn2176Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asn233Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asn325Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asn3697Asp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asn4000Asp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asn4115Asp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn676Lys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asn811Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asn867Asp Multiple submitters
p.Asn867His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asp1015Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asp1027Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asp382Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp425Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp444His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp607His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Asp744Asn Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asp744Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asp781Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asp807Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Asp877His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Cys1176Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Cys1183Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Cys630Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Cys729Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln1048Arg Multiple submitters ⚠
p.Gln1231Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln1231His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln339His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln415Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln448Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln448His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln656His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln720His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln947Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln960Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gln982Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gln98Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Glu1050del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1050Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Glu1092Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1139Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Glu1225Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Glu1299Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Glu172Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Glu513Lys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Glu844Lys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Glu985Asp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly1387Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly1513Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly1544Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly1599Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly2109Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly2652Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly2718Asp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly3071Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly347Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly3861Asp Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly4024Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly4025Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Gly512Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Gly954Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.His1304Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.His1459Tyr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.His3122Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.His484Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.His833Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile1013Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile1033Asn Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile1106Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile1188Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile132Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile1655Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile1676Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile1843Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile2193Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile256Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile3328Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile3572Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile363Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Ile363Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile4059Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile544Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile654Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ile851Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu1190Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu1241Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu177Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu196Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu224Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu230His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu2725Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu277Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu3997Pro Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu438Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu475Pro Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu733Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu793Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu796Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu805Ser Multiple submitters ⚠
p.Leu870Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Leu919Phe Multiple submitters
p.Leu934Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Leu934Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys1000Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys1038Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys1119Asn Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys1361del Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Lys205Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys2702Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys2786Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys335Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys668Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys832Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Lys963Glu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Met1757Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Met395Val Multiple submitters ⚠
p.Met880Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Met880Val Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Met958Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Met989Lys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe1194Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe153Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe3110Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe396Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe446Tyr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe465Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe550Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Phe568Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe63Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe704Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Phe995Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro102Ser Multiple submitters ⚠
p.Pro1154Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro1810Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro1997Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro242Leu Multiple submitters ⚠
p.Pro2570Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro2666Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro3024Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro3399Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro3677Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro3713Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro433Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro494Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro522Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro698Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro737Gln Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro764Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro764Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Pro912Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Pro967Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser1079Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser1233Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser1409Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser1813Asn Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser187Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser2654Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser3982Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser536Asn Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser559Thr Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser621Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser664Asn Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser694Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser75Gly Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser841Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Ser893Asn Multiple submitters ⚠
p.Thr1024Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr1123Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr1223Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr1240Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr1351Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr1621Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr1694Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr1700Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr1703Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr2098Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr2203Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr235Pro Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr2620Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr2953Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr3415Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr3599Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr3977Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Thr400Arg Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr402Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr55Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr55Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr582Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr587Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr673Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr763Ser Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr915Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Thr946Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Trp300Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr1086Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Tyr1086His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr1192His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Tyr2288Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr340Asn Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr366Phe Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Tyr565His Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency
p.Tyr651Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Tyr959Cys Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val1018Met Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val1096Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val1195Ala Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val219Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val2888Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val3490Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val375Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val420Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val521Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val572Ile Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
p.Val67Leu Multiple submitters severe combined immunodeficiency due to DNA-PKcs deficiency ⚠
c.10117-21_10117-16del Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.10670+3A>G Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.10759-8C>G Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.1114-1G>A Single submitter
c.1114-3A>C Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.11490-1G>A Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.11853+6C>G Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.12042+3A>G Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.1498-3C>A Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.154+19T>C Single submitter
c.155-4A>G Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency
c.1623+5_1623+6inv Single submitter severe combined immunodeficiency due to DNA-PKcs deficiency