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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46683	NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)	LOC126806428, TTN (A7122T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 915477	NM_001267550.2(TTN):c.21277A>G (p.Thr7093Ala)	LOC126806428, TTN (T6776A +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 202294	NM_001267550.2(TTN):c.21276C>T (p.Thr7092=)	LOC126806428, TTN	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 178244	NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)	LOC126806428, TTN	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 626693	NM_001267550.2(TTN):c.21143G>T (p.Arg7048Leu)	LOC126806428, TTN (R6731L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 46681	NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)	LOC126806428, TTN (D7036N +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 499085	NM_001267550.2(TTN):c.21103G>A (p.Val7035Ile)	LOC126806428, TTN (V5791I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 46680	NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)	LOC126806428, TTN (A7015V +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 46679	NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)	LOC126806428, TTN (I7007F +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 2691064	NM_001267550.2(TTN):c.20908A>C (p.Lys6970Gln)	LOC126806428, TTN (K5726Q +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GLikely benign
Select item 1329120	NM_001267550.2(TTN):c.20905T>A (p.Cys6969Ser)	LOC126806428, TTN (C5725S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 404694	NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)	LOC126806428, TTN (T6964M +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity