PNKP — 1223 ClinVar variants

All ClinVar germline PNKP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 398 flagged for review →

68 Pathogenic · 23 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 77 Conflicting · 24 Benign · 28 Benign/Likely benign · 475 Likely benign · 475 Uncertain significance

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

⚑ Evidence disagreements 398

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

PNKP p.Arg483Lys Pathogenic Single submitter
microcephaly, seizures, and developmental delay

Predictors agree, ClinVar conflicts 14

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

PNKP p.Ala19Val Conflicting Single submitter
Inborn genetic diseases
PNKP p.Ala63Val Conflicting Single submitter
Inborn genetic diseases
PNKP p.Arg141Gln Conflicting Single submitter
Inborn genetic diseases
PNKP p.Arg462Gln Conflicting Single submitter
Inborn genetic diseases
PNKP p.Arg462Pro Conflicting Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu337Gln Conflicting Single submitter
microcephaly, seizures, and developmental delay
PNKP p.Gly244Arg Conflicting Single submitter
Inborn genetic diseases
PNKP p.Gly335Ser Conflicting Single submitter
microcephaly, seizures, and developmental delay
PNKP p.Gly377Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gly481Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Leu454Met Conflicting Single submitter
microcephaly, seizures, and developmental delay
PNKP p.Leu83Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Pro332Ser Conflicting Single submitter
Inborn genetic diseases
PNKP p.Pro7Ser Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 255

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 255

PNKP p.Ala158Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala238Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala255Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Ala290Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala298Val Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Ala334Val Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Ala389Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Ala428Thr Uncertain significance Multiple submitters
microcephaly, seizures, and developmental delay
PNKP p.Ala429Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala429Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala440Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg110His Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg180Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg180His Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg201His Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg259Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg259Trp Uncertain significance Multiple submitters
microcephaly, seizures, and developmental delay
PNKP p.Arg311Pro Uncertain significance Multiple submitters
PNKP p.Arg348His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg396Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg431Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg464Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg504Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg513Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg60Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg60Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Asn144Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Asn425Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Asn461Asp Uncertain significance Multiple submitters
ataxia - oculomotor apraxia type 4
PNKP p.Asn97Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2B2
PNKP p.Asp132His Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Asp275Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Asp468Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Cys308Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gln436His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gln517Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Glu209Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2B2
PNKP p.Glu241Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Glu271Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Glu455Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Glu520Gln Uncertain significance Multiple submitters
ataxia - oculomotor apraxia type 4
PNKP p.Glu520Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Glu5Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gly174Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gly244Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gly276Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gly335Cys Uncertain significance Multiple submitters
microcephaly, seizures, and developmental delay
PNKP p.Gly442Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Gly442Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gly68Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.His393Tyr Uncertain significance Multiple submitters
ataxia - oculomotor apraxia type 4
PNKP p.Ile285Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ile498Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Leu10Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Leu176Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Leu454Val Uncertain significance Multiple submitters
microcephaly, seizures, and developmental delay
PNKP p.Lys212Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Met265Val Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Met477Thr Uncertain significance Multiple submitters
microcephaly, seizures, and developmental delay
PNKP p.Met477Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Phe495Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro112Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro119Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Pro136Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro136Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro136Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro163Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Pro197Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Pro21Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro21Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro261Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro294Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Pro489Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ser307Phe Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ser364Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ser470Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Thr103Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Thr109Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Thr111Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Thr111Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Thr253Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Thr263Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Thr76Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Thr92Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Val240Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Val406Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Val478Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Val89Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Val96Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Ala158Thr Uncertain significance Single submitter
PNKP p.Ala252Ser Uncertain significance Single submitter
PNKP p.Ala252Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala314Thr Uncertain significance Single submitter
PNKP p.Ala322Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala340Asp Uncertain significance Single submitter
PNKP p.Ala340Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala363Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala370Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala389Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala428Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala429Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala429Gly Uncertain significance Single submitter
microcephaly, seizures, and developmental delay
PNKP p.Ala429Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala55Val Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Arg105Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg110Cys Uncertain significance Single submitter
PNKP p.Arg193Lys Uncertain significance Single submitter
PNKP p.Arg204Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg204Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg293His Uncertain significance Single submitter
PNKP p.Arg348Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg348Pro Uncertain significance Single submitter
PNKP p.Arg358Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg431His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg439Gln Uncertain significance Single submitter
microcephaly, seizures, and developmental delay
PNKP p.Arg439Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg464Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg513Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg513Gly Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Asn144Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Asn149Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Asn460Tyr Uncertain significance Single submitter
PNKP p.Asp117His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Asp171Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Asp275Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Asp275Gly Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Asp305Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Asp310His Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Asp310Tyr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Asp397Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2B2
PNKP p.Asp422His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Cys308Ser Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Cys353Tyr Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Cys445Tyr Uncertain significance Single submitter
microcephaly, seizures, and developmental delay
PNKP p.Cys516Trp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gln115Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gln272His Uncertain significance Single submitter
PNKP p.Gln456Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gln456Leu Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Gln485Arg Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Gln50Leu Uncertain significance Single submitter
PNKP p.Glu108Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu198Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu205Asp Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Glu205Lys Uncertain significance Single submitter
PNKP p.Glu230Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu325Gln Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Glu3Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu487Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu508Asp Uncertain significance Single submitter

Predictors split 128

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

PNKP p.Ala295Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala295Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala420Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala441Gly Benign/Likely benign Multiple submitters
Inborn genetic diseases
PNKP p.Ala441Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala441Val Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg141Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg224Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg224His Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg404Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg404His Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg44Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg462Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Arg504Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Arg60Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Gln50Glu Pathogenic/Likely pathogenic Multiple submitters
PNKP-related disorder
PNKP p.Glu366Asp Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Glu493Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Glu500Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Gly276Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gly350Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Gly36Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gly36Glu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Gly400Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.His471Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.His471Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Ile222Met Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Leu315Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Leu382Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Met466Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Phe327Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro189Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro200Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro20Thr Uncertain significance Multiple submitters
ataxia - oculomotor apraxia type 4
PNKP p.Pro246His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro246Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro299Leu Uncertain significance Multiple submitters
ataxia - oculomotor apraxia type 4
PNKP p.Pro351Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro365Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Pro374Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Pro71Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Ser14Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ser357Phe Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Ser357Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ser388Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ser430Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Thr411Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Thr453Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Thr467Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Tyr196Asn Benign/Likely benign Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Tyr196Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PNKP p.Val419Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 12
PNKP p.Ala208Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala291Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala295Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala309Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala412Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala420Thr Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala432Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ala441Pro Uncertain significance Single submitter
PNKP p.Ala457Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg105His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg105Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg139His Conflicting Single submitter
ataxia - oculomotor apraxia type 4
PNKP p.Arg180Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg301Trp Conflicting Single submitter
microcephaly, seizures, and developmental delay
PNKP p.Arg418Trp Uncertain significance Single submitter
PNKP p.Arg446Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg44Trp Uncertain significance Single submitter
PNKP p.Arg458His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Arg483Ser Uncertain significance Single submitter
PNKP p.Arg504Trp Conflicting Single submitter
Inborn genetic diseases
PNKP p.Asn461His Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Cys409Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Cys437Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu356Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu455Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Glu508Lys Conflicting Single submitter
Inborn genetic diseases
PNKP p.Gly225Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gly244Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gly28Glu Uncertain significance Single submitter
PNKP p.Gly300Trp Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Gly350Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gly36Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gly36Val Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gly416Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Gly442Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.His268Arg Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.His459Arg Uncertain significance Single submitter
PNKP p.Ile498Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Leu329Phe Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Leu499Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Leu505Arg Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Lys166Gln Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Phe336Leu Uncertain significance Single submitter
PNKP p.Phe448Tyr Uncertain significance Single submitter
PNKP p.Phe463Leu Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Phe518Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Pro101Leu Conflicting Single submitter
Inborn genetic diseases
PNKP p.Pro16His Uncertain significance Single submitter
PNKP p.Pro332Leu Uncertain significance Single submitter
PNKP p.Pro339Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Pro343Ser Uncertain significance Single submitter
microcephaly, seizures, and developmental delay
PNKP p.Pro351Arg Uncertain significance Single submitter
PNKP p.Pro444Arg Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Pro444Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Pro444Ser Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Pro502Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Pro81Leu Uncertain significance Single submitter
PNKP p.Ser401Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Ser430Arg Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Thr157Ile Uncertain significance Single submitter
Inborn genetic diseases
PNKP p.Thr187Asn Uncertain significance Single submitter
PNKP p.Thr398Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Thr407Pro Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Thr408Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Thr467Met Uncertain significance Single submitter
PNKP p.Thr490Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Thr59Ile Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Trp11Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Tyr211Cys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Tyr258Cys Uncertain significance Single submitter
PNKP p.Val406Glu Uncertain significance Single submitter
PNKP p.Val435Ala Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Val443Phe Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Val54Asp Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Val62Met Uncertain significance Single submitter
developmental and epileptic encephalopathy, 12
PNKP p.Val89Gly Uncertain significance Single submitter

All PNKP variants

Pathogenic 68

c.1386+49_1387-33del Multiple submitters PNKP-related disorder
p.Ala432fs Multiple submitters Inborn genetic diseases
p.Arg439Ter Multiple submitters developmental and epileptic encephalopathy, 12
p.Asp132fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Glu326Lys Multiple submitters developmental and epileptic encephalopathy, 12
p.Gly375Trp Multiple submitters Inborn genetic diseases
p.Gly390Ter Multiple submitters PNKP-related disorder
p.Phe306fs Multiple submitters PNKP-related disorder
p.Thr424fs Multiple submitters Autosomal recessive PNKP-related disorders
p.Trp331Ter Multiple submitters developmental and epileptic encephalopathy, 12
c.1126+1del Single submitter developmental and epileptic encephalopathy, 12
c.1189-2A>C Single submitter
c.1288_1298+3delinsGCTCGCG Single submitter microcephaly, seizures, and developmental delay
c.1293_1298+2dup Single submitter
c.1295_1298+3del Single submitter
c.1299-1G>A Single submitter developmental and epileptic encephalopathy, 12
c.1299-2A>G Single submitter developmental and epileptic encephalopathy, 12
c.1299-5_1303del Single submitter microcephaly, seizures, and developmental delay
c.1386+1G>A Single submitter
c.1448+1G>C Single submitter developmental and epileptic encephalopathy, 12
c.1448+2T>A Single submitter developmental and epileptic encephalopathy, 12
c.199-10_203delinsTCTGAGGGGT Single submitter Charcot-Marie-Tooth disease type 2B2
p.Ala429fs Single submitter developmental and epileptic encephalopathy, 12
p.Arg433_Tyr434insTer Single submitter
p.Arg433fs Single submitter Inborn genetic diseases
p.Arg439fs Single submitter developmental and epileptic encephalopathy, 12
p.Arg464Ter Single submitter developmental and epileptic encephalopathy, 12
p.Arg483Lys Single submitter microcephaly, seizures, and developmental delay ⚠
p.Arg48Ter Single submitter developmental and epileptic encephalopathy, 12
p.Asp283fs Single submitter developmental and epileptic encephalopathy, 12
p.Asp422fs Single submitter developmental and epileptic encephalopathy, 12
p.Cys353Ter Single submitter developmental and epileptic encephalopathy, 12
p.Cys409_Glu410delinsTer Single submitter ataxia - oculomotor apraxia type 4
p.Cys437Ter Single submitter developmental and epileptic encephalopathy, 12
p.Cys445fs Single submitter developmental and epileptic encephalopathy, 12
p.Gln164Ter Single submitter
p.Gln270Ter Single submitter developmental and epileptic encephalopathy, 12
p.Gln272Ter Single submitter microcephaly, seizures, and developmental delay
p.Glu13fs Single submitter developmental and epileptic encephalopathy, 12
p.Glu356fs Single submitter developmental and epileptic encephalopathy, 12
p.Glu5fs Single submitter developmental and epileptic encephalopathy, 12
p.Gly264fs Single submitter PNKP-related disorder
p.His100fs Single submitter developmental and epileptic encephalopathy, 12
p.His254fs Single submitter developmental and epileptic encephalopathy, 12
p.Ile22fs Single submitter developmental and epileptic encephalopathy, 12
p.Ile421fs Single submitter microcephaly, seizures, and developmental delay
p.Ile501fs Single submitter developmental and epileptic encephalopathy, 12
p.Leu329fs Single submitter developmental and epileptic encephalopathy, 12
p.Phe328fs Single submitter developmental and epileptic encephalopathy, 12
p.Phe373fs Single submitter ataxia - oculomotor apraxia type 4
p.Phe495fs Single submitter developmental and epileptic encephalopathy, 12
p.Pro112fs Single submitter PNKP-related disorder
p.Pro16fs Single submitter developmental and epileptic encephalopathy, 12
p.Pro37_Leu38insTer Single submitter developmental and epileptic encephalopathy, 12
p.Ser430fs Single submitter microcephaly, seizures, and developmental delay
p.Ser470fs Single submitter developmental and epileptic encephalopathy, 12
p.Ser475fs Single submitter developmental and epileptic encephalopathy, 12
p.Thr122fs Single submitter developmental and epileptic encephalopathy, 12
p.Thr253fs Single submitter developmental and epileptic encephalopathy, 12
p.Trp106Ter Single submitter developmental and epileptic encephalopathy, 12
p.Trp402fs Single submitter developmental and epileptic encephalopathy, 12
p.Trp402Ter Single submitter developmental and epileptic encephalopathy, 12
p.Tyr480Ter Single submitter developmental and epileptic encephalopathy, 12
p.Tyr515fs Single submitter developmental and epileptic encephalopathy, 12
p.Val4fs Single submitter developmental and epileptic encephalopathy, 12
p.Gln517fs No assertion criteria ataxia - oculomotor apraxia type 4
p.Gly442fs No assertion criteria ataxia - oculomotor apraxia type 4
p.Leu176Phe No assertion criteria microcephaly, seizures, and developmental delay

Pathogenic/Likely pathogenic 23

c.1126+1G>C Multiple submitters developmental and epileptic encephalopathy, 12
c.1295_1298+6del Multiple submitters PNKP-related disorder
c.1386+1G>C Multiple submitters developmental and epileptic encephalopathy, 12
c.636+1G>T Multiple submitters PNKP-related disorder
p.Ala420fs Multiple submitters Inborn genetic diseases
p.Ala428fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala441fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg204Ter Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg48fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Asp427fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Gln403Ter Multiple submitters developmental and epileptic encephalopathy, 12
p.Gln50Glu Multiple submitters PNKP-related disorder ⚠
p.Glu113Ter Multiple submitters microcephaly, seizures, and developmental delay
p.Glu241Ter Multiple submitters PNKP-related disorder
p.Glu356Ter Multiple submitters developmental and epileptic encephalopathy, 12
p.Glu465fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Gly335fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Leu38fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Leu399Pro Multiple submitters PNKP-related disorder
p.Lys202Ter Multiple submitters Inborn genetic diseases
p.Phe336fs Multiple submitters PNKP-related disorder
p.Ser357fs Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr408del Multiple submitters PNKP-related disorder

Likely pathogenic 53

c.1127-1_1127delinsAA Multiple submitters developmental and epileptic encephalopathy, 12
c.1188+1G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.865+1G>A Multiple submitters Inborn genetic diseases
p.Tyr515Ter Multiple submitters PNKP-related disorder
c.1026_1029+4del Single submitter PNKP-related disorder
c.1029+1G>A Single submitter
c.1126+3_1126+4dup Single submitter
c.1188+1del Single submitter
c.1287_1298+1dup Single submitter
c.1288_1298+14del Single submitter PNKP-related disorder
c.1296_1298+13del Single submitter developmental and epileptic encephalopathy, 12
c.1298+1_1298+10del Single submitter developmental and epileptic encephalopathy, 12
c.1298+1G>A Single submitter developmental and epileptic encephalopathy, 12
c.1298+2T>A Single submitter ataxia - oculomotor apraxia type 4
c.1299-10_1299-1del Single submitter PNKP-related disorder
c.1299-3C>G Single submitter
c.1387-2A>G Single submitter developmental and epileptic encephalopathy, 12
c.152-1G>A Single submitter developmental and epileptic encephalopathy, 12
c.152-2A>C Single submitter developmental and epileptic encephalopathy, 12
c.199-2A>G Single submitter developmental and epileptic encephalopathy, 12
c.199-2del Single submitter
c.499-1G>A Single submitter developmental and epileptic encephalopathy, 12
c.578+2T>C Single submitter developmental and epileptic encephalopathy, 12
c.636+1G>C Single submitter developmental and epileptic encephalopathy, 12
c.637-1G>C Single submitter Charcot-Marie-Tooth disease type 2B2
c.744+1G>C Single submitter developmental and epileptic encephalopathy, 12
c.816+2T>C Single submitter developmental and epileptic encephalopathy, 12
c.865+1G>T Single submitter developmental and epileptic encephalopathy, 12
c.937-2A>G Single submitter Inborn genetic diseases
p.Ala440fs Single submitter microcephaly, seizures, and developmental delay
p.Ala488fs Single submitter
p.Asp468fs Single submitter
p.Cys409Arg Single submitter
p.Cys46Gly Single submitter
p.Gln436fs Single submitter
p.Gln456Ter Single submitter
p.Gln66= Single submitter microcephaly, seizures, and developmental delay
p.Gln77Ter Single submitter
p.Glu410fs Single submitter
p.Gly17fs Single submitter
p.Gly8fs Single submitter
p.Ile472fs Single submitter PNKP-related disorder
p.Leu413delinsArgHisAlaArgLeuLeuAlaAlaLeuCysAspHisValTer Single submitter
p.Ser143Ter Single submitter
p.Ser280fs Single submitter
p.Ser496fs Single submitter Charcot-Marie-Tooth disease type 2B2
p.Val406fs Single submitter
p.Val474fs Single submitter
p.Val89fs Single submitter
p.Arg35Gly No assertion criteria microcephaly, seizures, and developmental delay
p.Arg418fs No assertion criteria Global developmental delay
p.Glu508fs No assertion criteria PNKP-related disorder
p.Thr277fs No assertion criteria microcephaly, seizures, and developmental delay

Conflicting classifications of pathogenicity 77

c.1029+2T>C Single submitter Autosomal recessive PNKP-related disorders
c.1030-5C>T Single submitter developmental and epileptic encephalopathy, 12
c.1126+15C>T Single submitter developmental and epileptic encephalopathy, 12
c.1126+9C>T Single submitter developmental and epileptic encephalopathy, 12
c.1298+2_1298+5dup Single submitter Inborn genetic diseases
c.1298+6G>A Single submitter ataxia - oculomotor apraxia type 4
c.1387-11G>A Single submitter microcephaly, seizures, and developmental delay
c.1387-3_1387-2del Single submitter developmental and epileptic encephalopathy, 12
c.1387-3C>G Single submitter developmental and epileptic encephalopathy, 12
c.1387-48_1387-32del Single submitter Inborn genetic diseases
c.1449-5G>T Single submitter developmental and epileptic encephalopathy, 12
c.151+18T>G Single submitter developmental and epileptic encephalopathy, 12
c.199-15C>T Single submitter developmental and epileptic encephalopathy, 12
c.199-7T>A Single submitter developmental and epileptic encephalopathy, 12
c.199-8_199-5del Single submitter developmental and epileptic encephalopathy, 12
c.579-4G>A Single submitter developmental and epileptic encephalopathy, 12
c.579-5C>T Single submitter microcephaly, seizures, and developmental delay
c.744+8T>C Single submitter microcephaly, seizures, and developmental delay
c.816+6T>A Single submitter developmental and epileptic encephalopathy, 12
c.865+9C>T Single submitter developmental and epileptic encephalopathy, 12
c.936+13dup Single submitter developmental and epileptic encephalopathy, 12
c.936+6G>A Single submitter developmental and epileptic encephalopathy, 12
c.937-11_937-10del Single submitter developmental and epileptic encephalopathy, 12
c.-35T>C Single submitter microcephaly, seizures, and developmental delay
c.*15C>T Single submitter Inborn genetic diseases
p.Ala19Val Single submitter Inborn genetic diseases ⚠
p.Ala208= Single submitter developmental and epileptic encephalopathy, 12
p.Ala497= Single submitter Inborn genetic diseases
p.Ala63Val Single submitter Inborn genetic diseases ⚠
p.Arg139His Single submitter ataxia - oculomotor apraxia type 4 ⚠
p.Arg141Gln Single submitter Inborn genetic diseases ⚠
p.Arg224= Single submitter Inborn genetic diseases
p.Arg301Trp Single submitter microcephaly, seizures, and developmental delay ⚠
p.Arg462Gln Single submitter Inborn genetic diseases ⚠
p.Arg462Pro Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg504fs Single submitter developmental and epileptic encephalopathy, 12
p.Arg504Trp Single submitter Inborn genetic diseases ⚠
p.Asn274= Single submitter microcephaly, seizures, and developmental delay
p.Asn461del Single submitter Inborn genetic diseases
p.Asp173= Single submitter Inborn genetic diseases
p.Gln127= Single submitter developmental and epileptic encephalopathy, 12
p.Gln517Ter Single submitter Charcot-Marie-Tooth disease type 2B2
p.Glu209= Single submitter Inborn genetic diseases
p.Glu326del Single submitter Inborn genetic diseases
p.Glu337Gln Single submitter microcephaly, seizures, and developmental delay ⚠
p.Glu508Lys Single submitter Inborn genetic diseases ⚠
p.Gly244Arg Single submitter Inborn genetic diseases ⚠
p.Gly292= Single submitter Inborn genetic diseases
p.Gly335Ser Single submitter microcephaly, seizures, and developmental delay ⚠
p.Gly375= Single submitter developmental and epileptic encephalopathy, 12
p.Gly377Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly481Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly494= Single submitter developmental and epileptic encephalopathy, 12
p.Gly88= Single submitter microcephaly, seizures, and developmental delay
p.His254= Single submitter developmental and epileptic encephalopathy, 12
p.His471= Single submitter developmental and epileptic encephalopathy, 12
p.Ile222= Single submitter developmental and epileptic encephalopathy, 12
p.Leu213= Single submitter Inborn genetic diseases
p.Leu386= Single submitter developmental and epileptic encephalopathy, 12
p.Leu454Met Single submitter microcephaly, seizures, and developmental delay ⚠
p.Leu83Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Lys226= Single submitter Inborn genetic diseases
p.Phe247= Single submitter developmental and epileptic encephalopathy, 12
p.Pro101Leu Single submitter Inborn genetic diseases ⚠
p.Pro332Ser Single submitter Inborn genetic diseases ⚠
p.Pro7Ser Single submitter Inborn genetic diseases ⚠
p.Ser14= Single submitter developmental and epileptic encephalopathy, 12
p.Ser307= Single submitter developmental and epileptic encephalopathy, 12
p.Thr217Ser Single submitter Inborn genetic diseases
p.Thr277= Single submitter Inborn genetic diseases
p.Thr323Met Single submitter PNKP-related disorder
p.Thr467delinsArgTer Single submitter developmental and epileptic encephalopathy, 12
p.Trp506Ter Single submitter developmental and epileptic encephalopathy, 12
p.Tyr434= Single submitter Inborn genetic diseases
p.Tyr515= Single submitter developmental and epileptic encephalopathy, 12
p.Val167= Single submitter Inborn genetic diseases
p.Val287= Single submitter microcephaly, seizures, and developmental delay

Benign 24

c.1189-10del Multiple submitters developmental and epileptic encephalopathy, 12
c.151+205A>C Multiple submitters
c.151+245G>A Multiple submitters
c.199-170G>A Multiple submitters
c.498+23A>T Multiple submitters ataxia - oculomotor apraxia type 4
c.637-27C>T Multiple submitters
c.817-47C>T Multiple submitters
c.-14+87C>T Multiple submitters
c.*21A>C Multiple submitters microcephaly, seizures, and developmental delay
c.1029+15C>G Single submitter developmental and epileptic encephalopathy, 12
c.1030-12del Single submitter developmental and epileptic encephalopathy, 12
c.1127-7dup Single submitter developmental and epileptic encephalopathy, 12
c.1298+17del Single submitter developmental and epileptic encephalopathy, 12
c.1387-48del Single submitter developmental and epileptic encephalopathy, 12
c.1387-48dup Single submitter developmental and epileptic encephalopathy, 12
c.1387-5del Single submitter developmental and epileptic encephalopathy, 12
c.1387-5dup Single submitter developmental and epileptic encephalopathy, 12
c.1448+12dup Single submitter developmental and epileptic encephalopathy, 12
c.199-200_199-197del Single submitter
c.199-297G>C Single submitter
c.498+111C>T Single submitter
c.498+268G>T Single submitter
c.817-169G>T Single submitter
p.Leu499= Single submitter

Benign/Likely benign 28

c.1127-8C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1189-22_1189-19del Multiple submitters developmental and epileptic encephalopathy, 12
c.1298+19C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1299-6C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1387-47T>C Multiple submitters
c.1449-19C>A Multiple submitters developmental and epileptic encephalopathy, 12
c.151+11C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.498+11C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.636+7G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.816+20C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.936+16C>G Multiple submitters developmental and epileptic encephalopathy, 12
c.937-10C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.-50G>C Multiple submitters microcephaly, seizures, and developmental delay
p.Ala440= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala441Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg180Ser Multiple submitters microcephaly, seizures, and developmental delay
p.Arg193= Multiple submitters Charcot-Marie-Tooth disease type 2B2
p.Arg344= Multiple submitters Inborn genetic diseases
p.Glu366= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gly188= Multiple submitters developmental and epileptic encephalopathy, 12
p.Phe313= Multiple submitters Inborn genetic diseases
p.Pro20Ser Multiple submitters Inborn genetic diseases
p.Pro261= Multiple submitters Inborn genetic diseases
p.Thr467= Multiple submitters Inborn genetic diseases
p.Tyr196Asn Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Val419= Multiple submitters Inborn genetic diseases
p.Val443= Multiple submitters developmental and epileptic encephalopathy, 12
p.Val478Gly Multiple submitters developmental and epileptic encephalopathy, 12

Likely benign 475

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

c.1029+16G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.1029+20G>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1029+27T>G Multiple submitters
c.1030-15C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1030-9C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1126+7G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.1127-12C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1188+12C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1188+47C>T Multiple submitters
c.1188+8del Multiple submitters developmental and epileptic encephalopathy, 12
c.1189-10G>C Multiple submitters developmental and epileptic encephalopathy, 12
c.1189-11C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1286_1298+6dup Multiple submitters Inborn genetic diseases
c.1298+12G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.1298+20G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.1298+20G>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1299-5C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1299-9_1299-8delinsTT Multiple submitters developmental and epileptic encephalopathy, 12
c.1386+19G>T Multiple submitters developmental and epileptic encephalopathy, 12
c.1386+42T>C Multiple submitters
c.1386+46C>G Multiple submitters developmental and epileptic encephalopathy, 12
c.1387-4A>C Multiple submitters developmental and epileptic encephalopathy, 12
c.1448+12G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.1448+13A>G Multiple submitters developmental and epileptic encephalopathy, 12
c.1448+7T>C Multiple submitters developmental and epileptic encephalopathy, 12
c.1449-11_1449-10del Multiple submitters developmental and epileptic encephalopathy, 12
c.152-85A>G Multiple submitters
c.198+96T>C Multiple submitters
c.198+9G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.199-14CT[2] Multiple submitters developmental and epileptic encephalopathy, 12
c.498+14C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.499-7A>C Multiple submitters developmental and epileptic encephalopathy, 12
c.579-18G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.579-19C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.636+12C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.636+13G>A Multiple submitters developmental and epileptic encephalopathy, 12
c.637-13del Multiple submitters developmental and epileptic encephalopathy, 12
c.637-14C>G Multiple submitters developmental and epileptic encephalopathy, 12
c.744+81G>A Multiple submitters
c.817-12C>T Multiple submitters developmental and epileptic encephalopathy, 12
c.817-17A>G Multiple submitters developmental and epileptic encephalopathy, 12
c.817-20C>G Multiple submitters developmental and epileptic encephalopathy, 12
c.817-4G>T Multiple submitters developmental and epileptic encephalopathy, 12
c.817-5del Multiple submitters developmental and epileptic encephalopathy, 12
c.936+13C>T Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala229= Multiple submitters Inborn genetic diseases
p.Ala295= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala334= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala412= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala441= Multiple submitters Inborn genetic diseases
p.Arg404= Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg431= Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg446= Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg60= Multiple submitters
p.Asn97= Multiple submitters developmental and epileptic encephalopathy, 12
p.Asp117= Multiple submitters developmental and epileptic encephalopathy, 12
p.Asp27= Multiple submitters Inborn genetic diseases
p.Asp289= Multiple submitters developmental and epileptic encephalopathy, 12
p.Asp427= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gln517= Multiple submitters Inborn genetic diseases
p.Glu241= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gly442= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gly8= Multiple submitters developmental and epileptic encephalopathy, 12
p.Gly85= Multiple submitters developmental and epileptic encephalopathy, 12
p.Leu10= Multiple submitters developmental and epileptic encephalopathy, 12
p.Leu135= Multiple submitters Inborn genetic diseases
p.Leu195= Multiple submitters developmental and epileptic encephalopathy, 12
p.Leu329= Multiple submitters Inborn genetic diseases
p.Leu354= Multiple submitters developmental and epileptic encephalopathy, 12
p.Leu491= Multiple submitters developmental and epileptic encephalopathy, 12
p.Leu505= Multiple submitters developmental and epileptic encephalopathy, 12
p.Lys302= Multiple submitters developmental and epileptic encephalopathy, 12
p.Phe336= Multiple submitters developmental and epileptic encephalopathy, 12
p.Phe448= Multiple submitters developmental and epileptic encephalopathy, 12
p.Pro136= Multiple submitters Inborn genetic diseases
p.Pro20= Multiple submitters developmental and epileptic encephalopathy, 12
p.Pro278= Multiple submitters developmental and epileptic encephalopathy, 12
p.Pro37= Multiple submitters developmental and epileptic encephalopathy, 12
p.Pro81= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ser221= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ser388= Multiple submitters developmental and epileptic encephalopathy, 12
p.Ser86= Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr109= Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr122= Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr253= Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr263= Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr380= Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr411= Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr74= Multiple submitters developmental and epileptic encephalopathy, 12
p.Val369= Multiple submitters developmental and epileptic encephalopathy, 12
p.Val89= Multiple submitters Inborn genetic diseases
c.1029+15C>T Single submitter developmental and epileptic encephalopathy, 12
c.1029+19G>A Single submitter developmental and epileptic encephalopathy, 12
c.1029+20_1029+31del Single submitter developmental and epileptic encephalopathy, 12
c.1029+20G>C Single submitter developmental and epileptic encephalopathy, 12
c.1030-12C>G Single submitter developmental and epileptic encephalopathy, 12
c.1030-14C>G Single submitter
c.1030-14C>T Single submitter developmental and epileptic encephalopathy, 12
c.1030-16C>A Single submitter developmental and epileptic encephalopathy, 12
c.1030-16C>G Single submitter developmental and epileptic encephalopathy, 12
c.1030-16C>T Single submitter developmental and epileptic encephalopathy, 12
c.1030-20G>A Single submitter
c.1030-34A>C Single submitter
c.1030-7C>T Single submitter developmental and epileptic encephalopathy, 12
c.1030-8C>G Single submitter developmental and epileptic encephalopathy, 12
c.1126+10C>T Single submitter developmental and epileptic encephalopathy, 12
c.1126+12G>A Single submitter developmental and epileptic encephalopathy, 12
c.1126+14T>A Single submitter
c.1126+14T>G Single submitter developmental and epileptic encephalopathy, 12
c.1126+16C>T Single submitter developmental and epileptic encephalopathy, 12
c.1126+17T>C Single submitter
c.1126+7G>T Single submitter developmental and epileptic encephalopathy, 12
c.1126+9C>G Single submitter developmental and epileptic encephalopathy, 12
c.1127-10C>A Single submitter developmental and epileptic encephalopathy, 12
c.1127-10C>T Single submitter
c.1127-17C>T Single submitter developmental and epileptic encephalopathy, 12
c.1127-19G>A Single submitter developmental and epileptic encephalopathy, 12
c.1127-19G>C Single submitter developmental and epileptic encephalopathy, 12
c.1127-19G>T Single submitter developmental and epileptic encephalopathy, 12
c.1127-6A>C Single submitter developmental and epileptic encephalopathy, 12
c.1127-7C>A Single submitter developmental and epileptic encephalopathy, 12
c.1127-7C>T Single submitter developmental and epileptic encephalopathy, 12
c.1188+11_1188+13del Single submitter developmental and epileptic encephalopathy, 12
c.1188+12C>G Single submitter developmental and epileptic encephalopathy, 12
c.1188+16T>A Single submitter developmental and epileptic encephalopathy, 12
c.1188+17G>A Single submitter developmental and epileptic encephalopathy, 12
c.1188+19C>T Single submitter developmental and epileptic encephalopathy, 12
c.1188+20G>A Single submitter developmental and epileptic encephalopathy, 12
c.1188+7C>T Single submitter developmental and epileptic encephalopathy, 12
c.1189-10G>A Single submitter
c.1189-13C>G Single submitter developmental and epileptic encephalopathy, 12
c.1189-13C>T Single submitter developmental and epileptic encephalopathy, 12
c.1189-15C>G Single submitter developmental and epileptic encephalopathy, 12
c.1189-16C>T Single submitter developmental and epileptic encephalopathy, 12
c.1189-17A>T Single submitter developmental and epileptic encephalopathy, 12
c.1189-46_1189-10del Single submitter developmental and epileptic encephalopathy, 12
c.1189-5C>A Single submitter developmental and epileptic encephalopathy, 12
c.1189-67C>T Single submitter
c.1298+11C>T Single submitter developmental and epileptic encephalopathy, 12
c.1298+12G>T Single submitter developmental and epileptic encephalopathy, 12
c.1298+13_1298+14insA Single submitter developmental and epileptic encephalopathy, 12
c.1298+13C>T Single submitter developmental and epileptic encephalopathy, 12
c.1298+14G>A Single submitter developmental and epileptic encephalopathy, 12
c.1298+16_1298+17insCGCGGGTCA Single submitter developmental and epileptic encephalopathy, 12
c.1298+18C>T Single submitter developmental and epileptic encephalopathy, 12
c.1298+19dup Single submitter developmental and epileptic encephalopathy, 12
c.1298+5C>T Single submitter
c.1298+7_1298+12dup Single submitter developmental and epileptic encephalopathy, 12
c.1298+8G>C Single submitter
c.1299-11T>C Single submitter developmental and epileptic encephalopathy, 12
c.1299-12C>T Single submitter developmental and epileptic encephalopathy, 12
c.1299-13C>G Single submitter developmental and epileptic encephalopathy, 12
c.1299-14T>G Single submitter developmental and epileptic encephalopathy, 12
c.1299-5C>G Single submitter developmental and epileptic encephalopathy, 12
c.1299-7C>T Single submitter
c.1299-9C>A Single submitter developmental and epileptic encephalopathy, 12
c.1299-9C>T Single submitter developmental and epileptic encephalopathy, 12
c.1386+15C>T Single submitter developmental and epileptic encephalopathy, 12
c.1386+19G>A Single submitter developmental and epileptic encephalopathy, 12
c.1386+19G>C Single submitter developmental and epileptic encephalopathy, 12
c.1386+28C>T Single submitter
c.1386+40C>G Single submitter developmental and epileptic encephalopathy, 12
c.1386+41_1386+42del Single submitter developmental and epileptic encephalopathy, 12
c.1386+41C>G Single submitter developmental and epileptic encephalopathy, 12
c.1386+42del Single submitter developmental and epileptic encephalopathy, 12
c.1386+43G>A Single submitter developmental and epileptic encephalopathy, 12
c.1386+45C>T Single submitter developmental and epileptic encephalopathy, 12
c.1386+46C>T Single submitter developmental and epileptic encephalopathy, 12
c.1386+8C>T Single submitter developmental and epileptic encephalopathy, 12
c.1386+9G>A Single submitter developmental and epileptic encephalopathy, 12
c.1386+9G>T Single submitter developmental and epileptic encephalopathy, 12
c.1387-12T>C Single submitter developmental and epileptic encephalopathy, 12
c.1387-14G>A Single submitter developmental and epileptic encephalopathy, 12
c.1387-16C>G Single submitter developmental and epileptic encephalopathy, 12
c.1387-22G>T Single submitter
c.1387-26T>G Single submitter
c.1387-28C>T Single submitter
c.1387-33C>G Single submitter developmental and epileptic encephalopathy, 12
c.1387-34C>T Single submitter developmental and epileptic encephalopathy, 12
c.1387-35C>A Single submitter developmental and epileptic encephalopathy, 12
c.1387-35C>T Single submitter developmental and epileptic encephalopathy, 12
c.1387-36C>A Single submitter developmental and epileptic encephalopathy, 12
c.1387-36C>T Single submitter developmental and epileptic encephalopathy, 12
c.1387-37A>T Single submitter developmental and epileptic encephalopathy, 12
c.1387-38G>A Single submitter developmental and epileptic encephalopathy, 12
c.1387-40_1387-39del Single submitter developmental and epileptic encephalopathy, 12
c.1387-43C>T Single submitter developmental and epileptic encephalopathy, 12
c.1387-45C>T Single submitter developmental and epileptic encephalopathy, 12
c.1387-47del Single submitter developmental and epileptic encephalopathy, 12
c.1387-47dup Single submitter developmental and epileptic encephalopathy, 12
c.1387-7C>T Single submitter developmental and epileptic encephalopathy, 12
c.1387-8C>T Single submitter developmental and epileptic encephalopathy, 12
c.1448+10G>A Single submitter developmental and epileptic encephalopathy, 12
c.1448+11G>T Single submitter developmental and epileptic encephalopathy, 12
c.1448+14T>C Single submitter developmental and epileptic encephalopathy, 12
c.1448+16G>A Single submitter developmental and epileptic encephalopathy, 12
c.1448+27G>A Single submitter
c.1448+5_1448+8dup Single submitter developmental and epileptic encephalopathy, 12
c.1449-12C>T Single submitter developmental and epileptic encephalopathy, 12
c.1449-13C>T Single submitter developmental and epileptic encephalopathy, 12
c.1449-14_1449-13delinsTT Single submitter developmental and epileptic encephalopathy, 12
c.1449-20A>C Single submitter developmental and epileptic encephalopathy, 12
c.1449-5G>A Single submitter developmental and epileptic encephalopathy, 12
c.1449-8_1449-6del Single submitter developmental and epileptic encephalopathy, 12
c.1449-8A>G Single submitter developmental and epileptic encephalopathy, 12
c.1449-9C>T Single submitter developmental and epileptic encephalopathy, 12
c.151+10G>A Single submitter developmental and epileptic encephalopathy, 12
c.151+10G>T Single submitter developmental and epileptic encephalopathy, 12
c.151+9G>A Single submitter developmental and epileptic encephalopathy, 12
c.152-111A>G Single submitter
c.152-13C>T Single submitter developmental and epileptic encephalopathy, 12
c.152-14C>T Single submitter developmental and epileptic encephalopathy, 12
c.152-17A>C Single submitter developmental and epileptic encephalopathy, 12
c.152-18C>G Single submitter developmental and epileptic encephalopathy, 12
c.198+13C>G Single submitter developmental and epileptic encephalopathy, 12
c.198+13C>T Single submitter developmental and epileptic encephalopathy, 12
c.198+15G>A Single submitter developmental and epileptic encephalopathy, 12
c.198+19G>C Single submitter developmental and epileptic encephalopathy, 12
c.198+7G>T Single submitter developmental and epileptic encephalopathy, 12
c.198+9G>T Single submitter developmental and epileptic encephalopathy, 12
c.199-13T>C Single submitter developmental and epileptic encephalopathy, 12
c.199-14C>T Single submitter developmental and epileptic encephalopathy, 12
c.199-18C>G Single submitter developmental and epileptic encephalopathy, 12
c.199-199dup Single submitter
c.199-200_199-193del Single submitter
c.199-200del Single submitter
c.199-8T>C Single submitter
c.498+15G>A Single submitter developmental and epileptic encephalopathy, 12
c.498+18G>C Single submitter developmental and epileptic encephalopathy, 12
c.498+20C>G Single submitter developmental and epileptic encephalopathy, 12
c.498+233G>T Single submitter
c.499-14C>T Single submitter developmental and epileptic encephalopathy, 12
c.499-18_499-17insTCCTTGGTGTCACCTG Single submitter developmental and epileptic encephalopathy, 12
c.499-19C>T Single submitter developmental and epileptic encephalopathy, 12
c.499-4C>A Single submitter developmental and epileptic encephalopathy, 12
c.499-9T>C Single submitter developmental and epileptic encephalopathy, 12
c.578+11G>A Single submitter developmental and epileptic encephalopathy, 12
c.578+11G>T Single submitter developmental and epileptic encephalopathy, 12
c.578+13A>G Single submitter developmental and epileptic encephalopathy, 12
c.578+18_578+21del Single submitter developmental and epileptic encephalopathy, 12
c.578+8G>A Single submitter developmental and epileptic encephalopathy, 12
c.578+8G>C Single submitter developmental and epileptic encephalopathy, 12
c.579-11del Single submitter developmental and epileptic encephalopathy, 12
c.579-6C>T Single submitter developmental and epileptic encephalopathy, 12
c.579-9C>A Single submitter developmental and epileptic encephalopathy, 12
c.579-9C>G Single submitter developmental and epileptic encephalopathy, 12
c.579-9C>T Single submitter developmental and epileptic encephalopathy, 12
c.636+14C>G Single submitter developmental and epileptic encephalopathy, 12
c.636+15C>G Single submitter developmental and epileptic encephalopathy, 12
c.636+15C>T Single submitter developmental and epileptic encephalopathy, 12
c.636+17G>A Single submitter developmental and epileptic encephalopathy, 12
c.636+19C>G Single submitter developmental and epileptic encephalopathy, 12
c.636+8C>T Single submitter developmental and epileptic encephalopathy, 12
c.637-14C>A Single submitter developmental and epileptic encephalopathy, 12
c.637-14C>T Single submitter developmental and epileptic encephalopathy, 12
c.637-6C>T Single submitter developmental and epileptic encephalopathy, 12
c.744+13G>A Single submitter developmental and epileptic encephalopathy, 12
c.744+14G>A Single submitter
c.744+18G>A Single submitter developmental and epileptic encephalopathy, 12
c.745-17C>G Single submitter developmental and epileptic encephalopathy, 12
c.745-99C>A Single submitter
c.745-9C>T Single submitter developmental and epileptic encephalopathy, 12
c.816+14C>T Single submitter developmental and epileptic encephalopathy, 12
c.816+8_816+11dup Single submitter developmental and epileptic encephalopathy, 12
c.817-11G>A Single submitter developmental and epileptic encephalopathy, 12
c.817-15T>C Single submitter developmental and epileptic encephalopathy, 12
c.817-169G>A Single submitter
c.817-16C>T Single submitter developmental and epileptic encephalopathy, 12
c.817-17A>C Single submitter developmental and epileptic encephalopathy, 12
c.817-20_817-18del Single submitter developmental and epileptic encephalopathy, 12
c.817-227G>T Single submitter
c.817-251C>T Single submitter
c.817-254G>A Single submitter
c.817-4G>C Single submitter developmental and epileptic encephalopathy, 12
c.817-5C>T Single submitter developmental and epileptic encephalopathy, 12
c.817-6C>T Single submitter developmental and epileptic encephalopathy, 12
c.865+10T>C Single submitter developmental and epileptic encephalopathy, 12
c.865+11G>C Single submitter developmental and epileptic encephalopathy, 12
c.865+17T>C Single submitter developmental and epileptic encephalopathy, 12
c.865+20T>C Single submitter developmental and epileptic encephalopathy, 12
c.865+7G>A Single submitter developmental and epileptic encephalopathy, 12
c.865+8C>T Single submitter developmental and epileptic encephalopathy, 12
c.865+9del Single submitter developmental and epileptic encephalopathy, 12
c.866-14C>G Single submitter developmental and epileptic encephalopathy, 12
c.866-18G>A Single submitter developmental and epileptic encephalopathy, 12
c.936+10C>T Single submitter developmental and epileptic encephalopathy, 12
c.936+10del Single submitter developmental and epileptic encephalopathy, 12
c.936+11T>C Single submitter developmental and epileptic encephalopathy, 12
c.936+13C>A Single submitter developmental and epileptic encephalopathy, 12
c.936+13C>G Single submitter developmental and epileptic encephalopathy, 12
c.936+15C>G Single submitter developmental and epileptic encephalopathy, 12
c.936+16C>T Single submitter developmental and epileptic encephalopathy, 12
c.936+17_936+23del Single submitter
c.936+17C>G Single submitter developmental and epileptic encephalopathy, 12
c.936+4_936+10dup Single submitter developmental and epileptic encephalopathy, 12
c.936+8C>T Single submitter developmental and epileptic encephalopathy, 12
c.937-10C>G Single submitter
c.937-13C>T Single submitter developmental and epileptic encephalopathy, 12
c.937-15G>A Single submitter developmental and epileptic encephalopathy, 12
c.937-15G>C Single submitter developmental and epileptic encephalopathy, 12

Uncertain significance 475

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

c.1126+5G>A Multiple submitters microcephaly, seizures, and developmental delay
c.1126+5G>C Multiple submitters developmental and epileptic encephalopathy, 12
c.1288_1298+6dup Multiple submitters developmental and epileptic encephalopathy, 12
c.1290_1298+6dup Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala158Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala238Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala255Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala290Thr Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala295Thr Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala295Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala298Val Multiple submitters Inborn genetic diseases ⚠
p.Ala334Val Multiple submitters Inborn genetic diseases ⚠
p.Ala389Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala420Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala428Thr Multiple submitters microcephaly, seizures, and developmental delay ⚠
p.Ala429Leu Multiple submitters developmental and epileptic encephalopathy, 12
p.Ala429Thr Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala429Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala440Gly Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala441Thr Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ala441Val Multiple submitters Inborn genetic diseases ⚠
p.Arg110His Multiple submitters Inborn genetic diseases ⚠
p.Arg141Trp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg180Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg180His Multiple submitters Inborn genetic diseases ⚠
p.Arg201His Multiple submitters Inborn genetic diseases ⚠
p.Arg224Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg224His Multiple submitters Inborn genetic diseases ⚠
p.Arg259Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg259Trp Multiple submitters microcephaly, seizures, and developmental delay ⚠
p.Arg311Cys Multiple submitters
p.Arg311Pro Multiple submitters ⚠
p.Arg348His Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg358_Leu361del Multiple submitters developmental and epileptic encephalopathy, 12
p.Arg396Gly Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg404Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg404His Multiple submitters Inborn genetic diseases ⚠
p.Arg431Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg44Gln Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg462Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg464Pro Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg504Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg504Gly Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg513Trp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg60Gln Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Arg60Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg60Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn144Asp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Asn274_Ser280del Multiple submitters Inborn genetic diseases
p.Asn425Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn461Asp Multiple submitters ataxia - oculomotor apraxia type 4 ⚠
p.Asn97Ser Multiple submitters Charcot-Marie-Tooth disease type 2B2 ⚠
p.Asp132His Multiple submitters Inborn genetic diseases ⚠
p.Asp275Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp468Asn Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Cys308Trp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gln436His Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gln517Leu Multiple submitters Inborn genetic diseases ⚠
p.Glu209Lys Multiple submitters Charcot-Marie-Tooth disease type 2B2 ⚠
p.Glu241Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu241del Multiple submitters developmental and epileptic encephalopathy, 12
p.Glu271Lys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Glu366Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu455Asp Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Glu493Lys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Glu500Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu520Gln Multiple submitters ataxia - oculomotor apraxia type 4 ⚠
p.Glu520Gly Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Glu5Gly Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly174Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly244Glu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly276Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly276Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly335Cys Multiple submitters microcephaly, seizures, and developmental delay ⚠
p.Gly350Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly36Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly36Glu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly390= Multiple submitters
p.Gly400Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly442Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly442Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Gly68Ala Multiple submitters Inborn genetic diseases ⚠
p.His393Tyr Multiple submitters ataxia - oculomotor apraxia type 4 ⚠
p.His471Leu Multiple submitters Inborn genetic diseases ⚠
p.His471Pro Multiple submitters Inborn genetic diseases ⚠
p.Ile222Met Multiple submitters Inborn genetic diseases ⚠
p.Ile285Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ile498Leu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Leu10Phe Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Leu176Pro Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Leu315Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu382Pro Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Leu454Val Multiple submitters microcephaly, seizures, and developmental delay ⚠
p.Lys130del Multiple submitters developmental and epileptic encephalopathy, 12
p.Lys166= Multiple submitters developmental and epileptic encephalopathy, 12
p.Lys212Glu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Met265Val Multiple submitters Inborn genetic diseases ⚠
p.Met466Thr Multiple submitters Inborn genetic diseases ⚠
p.Met477Thr Multiple submitters microcephaly, seizures, and developmental delay ⚠
p.Met477Val Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Phe327Leu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Phe495Leu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro112Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro119Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro136Ala Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro136Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro136Leu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro163Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro189Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro197Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro200Thr Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro20Thr Multiple submitters ataxia - oculomotor apraxia type 4 ⚠
p.Pro21Ala Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro21Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro246His Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro246Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro261Leu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro294Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro299Leu Multiple submitters ataxia - oculomotor apraxia type 4 ⚠
p.Pro343= Multiple submitters developmental and epileptic encephalopathy, 12
p.Pro351Leu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro365Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro374Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro489Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Pro71Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser14Arg Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ser307del Multiple submitters developmental and epileptic encephalopathy, 12
p.Ser307Phe Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ser357Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser357Pro Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ser364Asn Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ser388Leu Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ser430Asn Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ser470Cys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Ter522Trp Multiple submitters developmental and epileptic encephalopathy, 12
p.Thr103Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr109Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr111Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr111Ser Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr253Met Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr263Met Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr411Ile Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr453Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr467Lys Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr76Ile Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Thr92Ile Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Tyr196Cys Multiple submitters Inborn genetic diseases ⚠
p.Val240Met Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Val406Gly Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Val419Ile Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Val478Ile Multiple submitters developmental and epileptic encephalopathy, 12 ⚠
p.Val89Ala Multiple submitters Inborn genetic diseases ⚠
p.Val96Leu Multiple submitters Inborn genetic diseases ⚠
c.1029+3G>A Single submitter developmental and epileptic encephalopathy, 12
c.1030-12C>A Single submitter developmental and epileptic encephalopathy, 12
c.1030-22_1041dup Single submitter developmental and epileptic encephalopathy, 12
c.1126+3_1126+6dup Single submitter
c.1126+4A>G Single submitter developmental and epileptic encephalopathy, 12
c.1127-20C>T Single submitter developmental and epileptic encephalopathy, 12
c.1127-3C>T Single submitter developmental and epileptic encephalopathy, 12
c.1127-9C>A Single submitter developmental and epileptic encephalopathy, 12
c.1188+5G>A Single submitter developmental and epileptic encephalopathy, 12
c.1189-3C>T Single submitter Inborn genetic diseases
c.1291_1298+5dup Single submitter developmental and epileptic encephalopathy, 12
c.1295_1298+20dup Single submitter
c.1295_1298+6dup Single submitter developmental and epileptic encephalopathy, 12
c.1298+7T>G Single submitter
c.1299-5C>A Single submitter Inborn genetic diseases
c.1387-39del Single submitter
c.1387-3C>A Single submitter developmental and epileptic encephalopathy, 12
c.1387-3C>T Single submitter developmental and epileptic encephalopathy, 12
c.151+6C>A Single submitter developmental and epileptic encephalopathy, 12
c.152-8A>G Single submitter developmental and epileptic encephalopathy, 12
c.152-97C>T Single submitter
c.498+3G>T Single submitter developmental and epileptic encephalopathy, 12
c.499-4C>G Single submitter developmental and epileptic encephalopathy, 12
c.499-5A>G Single submitter
c.578+4A>G Single submitter microcephaly
c.636+6_636+7del Single submitter developmental and epileptic encephalopathy, 12
c.637-3C>T Single submitter developmental and epileptic encephalopathy, 12
c.744+3A>G Single submitter developmental and epileptic encephalopathy, 12
c.744+3dup Single submitter
c.745-7_745-6delinsAA Single submitter developmental and epileptic encephalopathy, 12
c.816+3G>A Single submitter developmental and epileptic encephalopathy, 12
c.816+4_816+22del Single submitter developmental and epileptic encephalopathy, 12
c.817-362C>A Single submitter
c.817-3T>C Single submitter developmental and epileptic encephalopathy, 12
c.817-5C>G Single submitter
c.865+6G>A Single submitter developmental and epileptic encephalopathy, 12
c.866-8T>G Single submitter
c.936+5G>A Single submitter developmental and epileptic encephalopathy, 12
c.-105G>A Single submitter microcephaly, seizures, and developmental delay
c.-14+1G>T Single submitter
c.-21G>C Single submitter microcephaly, seizures, and developmental delay
c.-74G>A Single submitter microcephaly, seizures, and developmental delay
c.-90G>A Single submitter microcephaly, seizures, and developmental delay
c.*23A>C Single submitter microcephaly, seizures, and developmental delay
c.*43G>A Single submitter microcephaly, seizures, and developmental delay
p.Ala158Thr Single submitter ⚠
p.Ala208Pro Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala252Ser Single submitter ⚠
p.Ala252Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala291_Gly292insAla Single submitter
p.Ala291Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala295Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala309Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala314Thr Single submitter ⚠
p.Ala322Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala340Asp Single submitter ⚠
p.Ala340Pro Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala363Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala370Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala389Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala412Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala420Thr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala428Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala429Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala429Gly Single submitter microcephaly, seizures, and developmental delay ⚠
p.Ala429Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala432_Arg433insPro Single submitter developmental and epileptic encephalopathy, 12
p.Ala432Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala441Pro Single submitter ⚠
p.Ala457Val Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Ala55Val Single submitter Inborn genetic diseases ⚠
p.Arg105Cys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg105His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg105Leu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg110Cys Single submitter ⚠
p.Arg180Pro Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg193Lys Single submitter ⚠
p.Arg204Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg204Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg293His Single submitter ⚠
p.Arg311His Single submitter developmental and epileptic encephalopathy, 12
p.Arg348Cys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg348Pro Single submitter ⚠
p.Arg358Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg418Trp Single submitter ⚠
p.Arg431His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg439_Ala441dup Single submitter developmental and epileptic encephalopathy, 12
p.Arg439Gln Single submitter microcephaly, seizures, and developmental delay ⚠
p.Arg439Gly Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg439Leu Single submitter developmental and epileptic encephalopathy, 12
p.Arg446_Phe448delinsLeu Single submitter developmental and epileptic encephalopathy, 12
p.Arg446Cys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg44Trp Single submitter ⚠
p.Arg458His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg464= Single submitter microcephaly, seizures, and developmental delay
p.Arg464Leu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg483Ser Single submitter ⚠
p.Arg513Gln Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Arg513Gly Single submitter Inborn genetic diseases ⚠
p.Arg9Leu Single submitter developmental and epileptic encephalopathy, 12
p.Asn144Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asn149Ser Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asn274_Asp275del Single submitter developmental and epileptic encephalopathy, 12
p.Asn274Asp Single submitter developmental and epileptic encephalopathy, 12
p.Asn460Tyr Single submitter ⚠
p.Asn461His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp117His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp171Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp275Glu Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp275Gly Single submitter Inborn genetic diseases ⚠
p.Asp305Asn Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp310His Single submitter Inborn genetic diseases ⚠
p.Asp310Tyr Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Asp397Asn Single submitter Charcot-Marie-Tooth disease type 2B2 ⚠
p.Asp422His Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Cys308Arg Single submitter developmental and epileptic encephalopathy, 12
p.Cys308Ser Single submitter Inborn genetic diseases ⚠
p.Cys353Tyr Single submitter Inborn genetic diseases ⚠
p.Cys409Phe Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Cys437Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Cys445Tyr Single submitter microcephaly, seizures, and developmental delay ⚠
p.Cys516Trp Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln115Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln272= Single submitter developmental and epileptic encephalopathy, 12
p.Gln272His Single submitter ⚠
p.Gln456Arg Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gln456Leu Single submitter Inborn genetic diseases ⚠
p.Gln485Arg Single submitter Inborn genetic diseases ⚠
p.Gln50Leu Single submitter ⚠
p.Glu108Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu198Ala Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu205Asp Single submitter Inborn genetic diseases ⚠
p.Glu205Lys Single submitter ⚠
p.Glu230Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu231del Single submitter developmental and epileptic encephalopathy, 12
p.Glu325Gln Single submitter Inborn genetic diseases ⚠
p.Glu356Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu3Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu455Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu487Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu508Asp Single submitter ⚠
p.Glu520Lys Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Glu84Ala Single submitter developmental and epileptic encephalopathy, 12 ⚠
p.Gly165Asp Single submitter ⚠
p.Gly182Arg Single submitter developmental and epileptic encephalopathy, 12
p.Gly182Glu Single submitter ⚠
p.Gly223Arg Single submitter Inborn genetic diseases