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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSP
(N650S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DSP
(Y895C)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+9 more
GConflicting classifications of pathogenicity
DSP
(T1217M)
Single nucleotide variant
(missense variant +1 more)
Lethal acantholytic epidermolysis bullosa
+8 more
GConflicting classifications of pathogenicity
DSP
(D2070N +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
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