ClinVar for MedGen (Select 356424) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1236185	NM_015295.3(SMCHD1):c.4346+1G>T	SMCHD1	Single nucleotide variant (splice donor variant)	Proximal muscle weakness in upper limbs	GPathogenic
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)	not provided +20 more	GUncertain significance

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