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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
Single nucleotide variant
not provided
+4 more
GBenign
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
Deletion
Myofibrillar Myopathy, Dominant
+10 more
GBenign/Likely benign
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