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Links from MedGen

Items: 1 to 100 of 179

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKP1
(L159I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKP1
Single nucleotide variant
(splice acceptor variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GLikely pathogenic
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(R705Q +1 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(R672Q +1 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(T641I +1 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(I264L)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(R602H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PKP1
(K539E +1 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(A501T +1 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKP1
(N453S +1 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(K151N)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
+2 more
GUncertain significance
PKP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PKP1
(R128Q)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GLikely benign
PKP1
Single nucleotide variant
(intron variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(R420C +1 more)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(R378C)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
+1 more
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GLikely benign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(synonymous variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(A307S)
Single nucleotide variant
(missense variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(splice acceptor variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GPathogenic
PKP1
(R297fs)
Deletion
(frameshift variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GPathogenic
PKP1
Single nucleotide variant
(splice donor variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GPathogenic
PKP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PKP1
Single nucleotide variant
(splice acceptor variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
(Q281*)
Single nucleotide variant
(nonsense)
Epidermolysis bullosa simplex due to plakophilin deficiency
GLikely pathogenic
DSP-AS1, DSP
Single nucleotide variant
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GLikely benign
DSP
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
+3 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Lethal acantholytic epidermolysis bullosa
+3 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
+3 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
+3 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
DSP-related condition
+10 more
GBenign/Likely benign
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic right ventricular dysplasia 8
+7 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(intron variant +1 more)
Epidermolysis bullosa simplex due to plakophilin deficiency
+4 more
GConflicting classifications of pathogenicity
DSP
(D802N)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
DSP
(R490H)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
DSP, DSP-AS1
Single nucleotide variant
(5 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
+3 more
GUncertain significance
DSP, DSP-AS1
Single nucleotide variant
(5 prime UTR variant)
Arrhythmogenic right ventricular cardiomyopathy
+3 more
GUncertain significance
DSP-AS1, DSP
Single nucleotide variant
(5 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
+3 more
GUncertain significance
DSP, DSP-AS1
Single nucleotide variant
(5 prime UTR variant)
Lethal acantholytic epidermolysis bullosa
+3 more
GUncertain significance
DSP, DSP-AS1
Single nucleotide variant
Lethal acantholytic epidermolysis bullosa
+3 more
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Microsatellite
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Insertion
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GBenign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GLikely benign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GLikely benign
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GUncertain significance
PKP1
Single nucleotide variant
(3 prime UTR variant)
Epidermolysis bullosa simplex due to plakophilin deficiency
GLikely benign
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