ClinVar for MedGen (Select 735900) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986389	NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)	KIF5B (N255del)	Microsatellite (inframe_deletion)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic
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 243086	NM_001349723.3(DNAJB5):c.43C>T (p.Pro15Ser)	DNAJB5 (P15S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 222856	NM_005726.6(TSFM):c.2T>G (p.Met1Arg)	TSFM (M1R)	Single nucleotide variant (missense variant +1 more)	Skeletal myopathy	GUncertain significance
Select item 222817	NM_004168.4(SDHA):c.830C>T (p.Thr277Met)	SDHA (T277M +1 more)	Single nucleotide variant (missense variant)	Skeletal myopathy +7 more	GConflicting classifications of pathogenicity
Select item 44261	NM_001927.4(DES):c.407T>A (p.Leu136His)	DES (L136H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +20 more	GUncertain significance

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