ClinVar for OMIM (Select 180901) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1335913	NM_004320.6(ATP2A1):c.704T>A (p.Ile235Asn)	ATP2A1 (I235N +1 more)	Single nucleotide variant (missense variant)	Brody myopathy	GPathogenic
Select item 183021	NM_001231.5(CASQ1):c.731A>G (p.Asp244Gly)	CASQ1 (D244G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 39823	NM_001289.6(CLIC2):c.303C>G (p.His101Gln)	CLIC2 (H101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 37091	NM_001378030.1(CCDC78):c.61-1G>A	CCDC78	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myopathy with internal nuclei and atypical cores +1 more	GUncertain significance
Select item 8959	NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	CPT2 (R503C)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GPathogenic/Likely pathogenic
Select item 4492	NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	SELENON (R466Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

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