C2673677[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 38439	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN, TTN-AS1 (K27023fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GPathogenic
Select item 12652	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN, TTN-AS1	Indel (missense variant)	Dilated cardiomyopathy 1G +6 more	GPathogenic
Select item 12660	TTN:c.106668delA (p.Lys35556Argfs)	TTN, TTN-AS1 (K35556fs +5 more)	Deletion (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 12661	NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)	LOC129935184, TTN +1 more (Q35176fs +5 more)	Deletion (frameshift variant)	Early-onset myopathy with fatal cardiomyopathy	GPathogenic
Select item 178157	NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)	TTN-AS1, TTN (R31523W +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 132137	NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	TTN, TTN-AS1 (P31732L +5 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 132136	NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)	TTN, TTN-AS1 (W31729C +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity

ClinVar