"Clinical Genetics, Academic Medical Center"[submitter] AND "LOC126806 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 202274	NM_001267550.2(TTN):c.53288-18G>T	LOC126806425, TTN +1 more	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign/Likely benign
Select item 47075	NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)	LOC126806425, TTN +1 more (F17754L +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +9 more	GConflicting classifications of pathogenicity
Select item 1284639	NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)	LOC126806425, TTN +1 more (R15168Q +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 47074	NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)	LOC126806425, TTN +1 more (I17731T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 202708	NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)	LOC126806425, TTN +1 more (I16079T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 47072	NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)	LOC126806425, TTN +1 more (K17708I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 47068	NM_001267550.2(TTN):c.52917T>C (p.Asp17639=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 1284567	NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)	LOC126806425, TTN +1 more (R15067* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 47066	NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)	LOC126806425, TTN +1 more (R17618C +5 more)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 47065	NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 1284326	NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys)	LOC126806425, TTN +1 more (N15028K +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 137796	NM_001267550.2(TTN):c.52706-17A>G	LOC126806425, TTN +1 more	Single nucleotide variant (intron variant)	Tibial muscular dystrophy +6 more	GBenign
Select item 202702	NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)	LOC126806425, TTN +1 more (I15927V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 191948	NM_001267550.2(TTN):c.52552C>T (p.Arg17518Cys)	LOC126806425, TTN +1 more (R14950C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96294	NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys)	LOC126806425, TTN +1 more (N17512K +4 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity