"Genome-Nilou Lab"[submitter] AND "LOC126806420"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47625	NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile)	LOC126806420, TTN +1 more (V33366I +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 47624	NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)	LOC126806420, TTN +1 more (R33365Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 47623	NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 178160	NM_001267550.2(TTN):c.99969C>T (p.Ile33323=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 202282	NM_001267550.2(TTN):c.99866-10C>T	LOC126806420, TTN +1 more	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 179463	NM_001267550.2(TTN):c.99810C>T (p.Val33270=)	LOC126806420, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign

ClinVar