C0686353[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 626314	NM_001199563.2(BVES):c.262C>T (p.Arg88Ter)	BVES (R88*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 977163	NM_213599.3(ANO5):c.395A>T (p.Lys132Met)	ANO5 (K131M +1 more)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 195705	NM_213599.3(ANO5):c.2521C>G (p.His841Asp)	ANO5 (H841D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +5 more	GConflicting classifications of pathogenicity
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Headache +20 more	GPathogenic/Likely pathogenic

ClinVar