C0026850[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930110	NM_020451.3(SELENON):c.746_747+36del	SELENON	Deletion (splice donor variant)	SELENON-related myopathy +2 more	GPathogenic
Select item 4492	NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)	SELENON (R466Q +1 more)	Single nucleotide variant (missense variant)	SEPN1-Related Disorders +3 more	GPathogenic/Likely pathogenic
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Neuromuscular disease +14 more	GConflicting classifications of pathogenicity
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Proximal lower limb amyotrophy +12 more	GConflicting classifications of pathogenicity
Select item 495341	NM_003722.5(TP63):c.191+5G>C	TP63	Single nucleotide variant (intron variant)	Muscular dystrophy	GUncertain significance
Select item 17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3 (T184fs)	Deletion (frameshift variant)	Muscular dystrophy, limb-girdle, autosomal dominant 4 +24 more	GPathogenic
Select item 4235	NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	FKRP (N463D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GPathogenic/Likely pathogenic

ClinVar