"Center of Excellence for Medical Genomics, Chulalongkorn University"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586890	NM_001267550.2(TTN):c.53348T>C (p.Leu17783Pro)	LOC126806425, TTN +1 more (L17783P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695409	NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)	TTN (E10603* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GPathogenic
Select item 1695405	NM_001267550.2(TTN):c.38876-2A>C	TTN	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1695408	NM_001267550.2(TTN):c.28856T>C (p.Ile9619Thr)	TTN (I8375T +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 1695407	NM_001267550.2(TTN):c.3926C>T (p.Thr1309Ile)	LOC101927055, TTN (T1263I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 1695406	NM_001267550.2(TTN):c.2254C>A (p.Arg752Ser)	TTN (R706S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance

ClinVar