C2673677[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 47647	NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)	TTN, TTN-AS1 (A34064T +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 47520	NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	TTN, TTN-AS1 (P30726S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +14 more	GConflicting classifications of pathogenicity
Select item 1678136	NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)	TTN, TTN-AS1 (K16664* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GLikely pathogenic
Select item 2664888	NM_001267550.2(TTN):c.71249C>T (p.Pro23750Leu)	TTN, TTN-AS1 (P14685L +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy	GUncertain significance
Select item 2627983	NM_001267550.2(TTN):c.41391_41393del (p.Leu13798del)	TTN (L11230del +5 more)	Deletion (inframe_deletion)	Early-onset myopathy with fatal cardiomyopathy	GUncertain significance
Select item 626706	NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val)	TTN (D1232V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GUncertain significance

ClinVar