ClinVar for MedGen (Select 338530) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689546	NM_018706.7(DHTKD1):c.2288T>C (p.Val763Ala)	DHTKD1 (V763A)	Single nucleotide variant (missense variant)	Distal amyotrophy	GUncertain significance
Select item 5835	NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)	MYOT, PKD2L2-DT (S55F)	Single nucleotide variant (missense variant +1 more)	Progressive distal muscle weakness +11 more	GPathogenic/Likely pathogenic