"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126806 - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031960	NM_001267550.2(TTN):c.17664del (p.Asp5889fs)	LOC126806431, TTN (D4645fs +2 more)	Deletion (frameshift variant +1 more)	TTN-related disorder	GLikely pathogenic
Select item 179056	NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)	LOC126806431, TTN (G4604E +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 489107	NM_001267550.2(TTN):c.17461+1G>T	LOC126806431, TTN	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1284392	NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)	LOC126806431, TTN (C4569S +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder +8 more	GUncertain significance
Select item 466850	NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)	LOC126806431, TTN	Single nucleotide variant (synonymous variant +1 more)	TTN-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 46626	NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)	LOC126806431, TTN (S5767N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 413065	NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln)	LOC126806431, TTN (R5743Q +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 46625	NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe)	LOC126806431, TTN (L5742F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 46621	NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)	LOC126806431, TTN (Y5683C +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 3033029	NM_001267550.2(TTN):c.16910C>T (p.Pro5637Leu)	LOC126806431, TTN (P4393L +2 more)	Single nucleotide variant (missense variant +1 more)	TTN-related disorder	GUncertain significance