"Genome-Nilou Lab"[submitter] AND "LOC126806423"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47263	NM_001267550.2(TTN):c.68217T>C (p.His22739=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign
Select item 47261	NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 47260	NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 137804	NM_001267550.2(TTN):c.67637-17T>C	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Tibial muscular dystrophy +6 more	GBenign
Select item 47255	NM_001267550.2(TTN):c.67635T>C (p.Val22545=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47253	NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign

ClinVar