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Links from MedGen

Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNKP
(A440fs)
Duplication
(frameshift variant)
Microcephaly, seizures, and developmental delay
GLikely pathogenic
PNKP
(S430fs)
Insertion
(frameshift variant)
Microcephaly, seizures, and developmental delay
GPathogenic
NUSAP1
(Y340* +4 more)
Single nucleotide variant
(nonsense)
Microcephaly, seizures, and developmental delay
GLikely pathogenic
PNKP
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GLikely pathogenic
PNKP
(E241*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 12
+3 more
GPathogenic/Likely pathogenic
PNKP
(P119Q)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
(A428T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PNKP
Deletion
(splice acceptor variant)
Microcephaly, seizures, and developmental delay
GPathogenic
PNKP
(L104P)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
(V51L)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
(T277fs)
Duplication
(frameshift variant)
Microcephaly, seizures, and developmental delay
GLikely pathogenic
PNKP
(V96L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PNKP
(R35G)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
GLikely pathogenic
PNKP
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(5 prime UTR variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(intron variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 12
+1 more
GConflicting classifications of pathogenicity
PNKP
(G400R)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(5 prime UTR variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 12
+1 more
GConflicting classifications of pathogenicity
PNKP
(A429G)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 12
+1 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PNKP
(R259W)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
+1 more
GUncertain significance
PNKP
(K378T)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
(I421fs)
Insertion
(frameshift variant)
Microcephaly, seizures, and developmental delay
GPathogenic
PNKP
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B2
+3 more
GLikely benign
PNKP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PNKP
(L454V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PNKP
Deletion
(splice donor variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
(A19V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+3 more
GConflicting classifications of pathogenicity
PNKP
(G335S)
Single nucleotide variant
(missense variant)
Ataxia - oculomotor apraxia type 4
+3 more
GUncertain significance
PNKP
(G36E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+1 more
GUncertain significance
PNKP
(R44Q)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
+2 more
GUncertain significance
PNKP
(M477T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PNKP
(F463L)
Single nucleotide variant
(missense variant)
Ataxia - oculomotor apraxia type 4
+2 more
GUncertain significance
PNKP
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 12
+3 more
GConflicting classifications of pathogenicity
PNKP
(P20T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PNKP
Single nucleotide variant
(splice donor variant)
PNKP-related disorder
+4 more
GPathogenic/Likely pathogenic
PNKP
(N461D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+4 more
GUncertain significance
PNKP
Single nucleotide variant
(synonymous variant)
Microcephaly, seizures, and developmental delay
+2 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 12
+2 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 12
+4 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(5 prime UTR variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(5 prime UTR variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
(P37A)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 12
+1 more
GConflicting classifications of pathogenicity
PNKP
(T411fs)
Deletion
(frameshift variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(synonymous variant)
Microcephaly, seizures, and developmental delay
+2 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 12
+2 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, seizures, and developmental delay
GBenign
PNKP
Single nucleotide variant
(3 prime UTR variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
(E520G)
Single nucleotide variant
(missense variant)
Ataxia - oculomotor apraxia type 4
+3 more
GUncertain significance
PNKP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GUncertain significance
PNKP
Deletion
PNKP-related disorder
+3 more
GPathogenic
PNKP
(P7S)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
PNKP
(R504G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PNKP
(R464P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+4 more
GUncertain significance
PNKP
(R462P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+3 more
GConflicting classifications of pathogenicity
PNKP
(A441G)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
+4 more
GBenign/Likely benign
PNKP
(V419D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PNKP
Single nucleotide variant
(splice donor variant)
Microcephaly, seizures, and developmental delay
+7 more
GConflicting classifications of pathogenicity
PNKP
(G335C)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
+2 more
GUncertain significance
PNKP
(G225R)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
+3 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PNKP
(T217S)
Single nucleotide variant
(missense variant)
Microcephaly, seizures, and developmental delay
+4 more
GConflicting classifications of pathogenicity
PNKP
(E209K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2B2
+5 more
GUncertain significance
PNKP
(N97S)
Single nucleotide variant
(missense variant)
Ataxia - oculomotor apraxia type 4
+5 more
GUncertain significance
PNKP
(H393Y)
Single nucleotide variant
(missense variant)
Ataxia - oculomotor apraxia type 4
+4 more
GUncertain significance
PNKP
(T408del)
Deletion
(inframe_deletion)
not provided
+3 more
GPathogenic/Likely pathogenic
PNKP
(G375W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic
PNKP
(P332S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+3 more
GConflicting classifications of pathogenicity
PNKP
(T323M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 12
+1 more
GConflicting classifications of pathogenicity
PNKP
(R224H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+3 more
GUncertain significance
PNKP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 12
+2 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(intron variant)
Microcephaly, seizures, and developmental delay
+3 more
GBenign
PNKP
Single nucleotide variant
(synonymous variant)
Microcephaly, seizures, and developmental delay
GUncertain significance
PNKP
(R139H)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
PNKP
(P101L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PNKP
(A63V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PNKP
(A440G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+1 more
GUncertain significance
PNKP
Deletion
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PNKP
Single nucleotide variant
(3 prime UTR variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
PNKP
(E508K)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
PNKP
(V478G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 12
+3 more
GBenign/Likely benign
PNKP
Single nucleotide variant
(intron variant)
PNKP-related disorder
+3 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
PNKP
Single nucleotide variant
(5 prime UTR variant)
Microcephaly, seizures, and developmental delay
+1 more
GBenign/Likely benign
PNKP
Single nucleotide variant
(synonymous variant)
Microcephaly, seizures, and developmental delay
+3 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
PNKP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PNKP
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2B2
+4 more
GBenign/Likely benign
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