ClinVar for MedGen (Select 812797) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 598978	NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe)	SFTPC (L55F)	Single nucleotide variant (missense variant +1 more)	Myopathy +14 more	GLikely pathogenic
Select item 44261	NM_001927.4(DES):c.407T>A (p.Leu136His)	DES (L136H)	Single nucleotide variant (missense variant)	Respiratory insufficiency due to muscle weakness +20 more	GUncertain significance