"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "TTN-AS1"[g - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585300	NM_001267550.2(TTN):c.105804_105805del (p.Glu35268fs)	LOC129935183, TTN +1 more (E35268fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 47647	NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)	TTN, TTN-AS1 (A34064T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 132133	NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)	TTN, TTN-AS1 (C31712R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GPathogenic/Likely pathogenic
Select item 47520	NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)	TTN, TTN-AS1 (P30726S +5 more)	Single nucleotide variant (missense variant)	TTN-related myopathy +14 more	GConflicting classifications of pathogenicity
Select item 2585039	NM_001267550.2(TTN):c.87781C>T (p.Pro29261Ser)	TTN, TTN-AS1 (P27620S +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy	GUncertain significance
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 504986	NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)	LOC126806424, TTN +1 more (W17330* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +5 more	GLikely pathogenic