"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46667	NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)	LOC126806429, TTN (I6725M +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 2442930	NM_001267550.2(TTN):c.20148G>A (p.Met6716Ile)	LOC126806429, TTN (M5472I +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 46666	NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)	LOC126806429, TTN (M6716K +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 535545	NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser)	LOC126806429, TTN (N6650S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 2691063	NM_001267550.2(TTN):c.19890C>G (p.Phe6630Leu)	LOC126806429, TTN (F5386L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GLikely benign
Select item 535566	NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)	LOC126806429, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 2691062	NM_001267550.2(TTN):c.19745G>A (p.Arg6582Gln)	LOC126806429, TTN (R5338Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GLikely benign
Select item 198357	NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter)	LOC126806429, TTN (R6582* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 46661	NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)	LOC126806429, TTN (P6580S +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +6 more	GConflicting classifications of pathogenicity