"Genome-Nilou Lab"[submitter] AND "LOC126806425"[gene] - ClinVar - NCBI

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Items: 9

	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)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 47074	NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)	LOC126806425, TTN +1 more (I17731T +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 137797	NM_001267550.2(TTN):c.53166C>T (p.Asn17722=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign/Likely benign
Select item 47072	NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile)	LOC126806425, TTN +1 more (K17708I +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GBenign/Likely benign
Select item 378823	NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GBenign/Likely benign
Select item 202272	NM_001267550.2(TTN):c.52962G>A (p.Pro17654=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +6 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)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47065	NM_001267550.2(TTN):c.52821T>C (p.Asp17607=)	LOC126806425, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GBenign/Likely benign
Select item 137796	NM_001267550.2(TTN):c.52706-17A>G	LOC126806425, TTN +1 more	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign