"Genome-Nilou Lab"[submitter] AND "LOC126806429"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46668	NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)	LOC126806429, TTN (A6746T +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 46666	NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)	LOC126806429, TTN (M6716K +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 179925	NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +5 more	GBenign/Likely benign
Select item 46665	NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 46664	NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met)	LOC126806429, TTN (T6659M +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 46662	NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GBenign/Likely benign

ClinVar