"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806420"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 569626	NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu)	LOC126806420, TTN +1 more (P33415L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1532188	NM_001267550.2(TTN):c.100171+16_100171+17insA	LOC126806420, TTN +1 more	Insertion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 196646	NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)	LOC126806420, TTN +1 more (S33388N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 405132	NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)	LOC126806420, TTN +1 more (G33373S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 47619	NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe)	LOC126806420, TTN +1 more (L33272F +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 1307592	NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys)	LOC126806420, TTN +1 more (Y24186C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +7 more	GUncertain significance

ClinVar