PNKP

Clinically classified variants

33 reference-table entries with clinical significance.

• rs142199280Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs145904995Benignsingle nucleotide variantMicrocephaly, seizures, and developmental delay|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs149731642Benignsingle nucleotide variantMicrocephaly, seizures, and developmental delay|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs3739166Benignsingle nucleotide variantMicrocephaly, seizures, and developmental delay
• rs3739186Benignsingle nucleotide variantMicrocephaly, seizures, and developmental delay|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs3739203Benignsingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12
• rs3739206Benignsingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12|History of neurodevelopmental disorder
• rs1050332Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|History of neurodevelopmental disorder
• rs115259839Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12|Microcephaly, seizures, and developmental delay
• rs116192442Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12|Microcephaly, seizures, and developmental delay
• rs142143566Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs144284975Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12|Microcephaly, seizures, and developmental delay
• rs146478958Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs148491228Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12|Microcephaly, seizures, and developmental delay|History of neurodevelopmental disorder
• rs151180981Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs199919568Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12|Ataxia - oculomotor apraxia type 4|Abnormal cerebral morphology
• rs200785744Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12
• rs34472250Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|Microcephaly, seizures, and developmental delay|Ataxia - oculomotor apraxia type 4|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs371834726Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12
• rs372148913Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12
• rs3739199Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12
• rs3739200Conflicting interpretationsDuplicationDevelopmental and epileptic encephalopathy, 12
• rs374745816Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12
• rs376854895Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|History of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 12
• rs55756709Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12
• rs571119317Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12
• rs578207030Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12|Ataxia - oculomotor apraxia type 4
• rs587784369Conflicting interpretationssingle nucleotide variantMicrocephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12
• rs794727920Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 12
• rs267606956Pathogenicsingle nucleotide variantMicrocephaly, seizures, and developmental delay|Abnormality of the nervous system
• rs587784365PathogenicDuplicationMicrocephaly, seizures, and developmental delay|Ataxia - oculomotor apraxia type 4|Developmental and epileptic encephalopathy, 12|Intellectual disability|Abnormality of the nervous system
• rs138931842Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 12|History of neurodevelopmental disorder
• rs145615734Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 12

Public references

• NCBI Gene
• Ensembl
• ClinVar