ClinVar for MedGen (Select 331234) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369331	NC_000002.12:g.219426752T>C	DES	Single nucleotide variant	Scapuloperoneal weakness +4 more	GBenign
Select item 334456	NM_001927.4(DES):c.*588G>A	DES	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
Select item 44273	NM_001927.4(DES):c.897+4_897+5del	DES	Deletion	Neurogenic scapuloperoneal syndrome, Kaeser type +9 more	GBenign/Likely benign

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