"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282160	NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr)	TTN, TTN-AS1 (M32105T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 510946	NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)	TTN-AS1, TTN (R31170C +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 808927	NM_001267550.2(TTN):c.88037A>T (p.Asp29346Val)	TTN-AS1, TTN (D20473V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 179228	NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)	TTN, TTN-AS1 (I25234V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 191886	NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile)	TTN-AS1, TTN (V24401I +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 47328	NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)	TTN, TTN-AS1 (N24843D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 497334	NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)	TTN-AS1, TTN (P21657L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 669310	NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)	LOC126806423, TTN +1 more (D13739N +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 467367	NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)	TTN, TTN-AS1 (V21303M +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1209908	NM_001267550.2(TTN):c.53445A>G (p.Ile17815Met)	TTN, TTN-AS1 (I15247M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 202708	NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)	LOC126806425, TTN +1 more (I16079T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 229453	NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)	TTN-AS1, TTN (R14655Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 202689	NM_001267550.2(TTN):c.51067G>A (p.Gly17023Arg)	TTN-AS1, TTN (G15382R +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1210106	NM_001267550.2(TTN):c.50293A>C (p.Lys16765Gln)	TTN, TTN-AS1 (K14197Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175085	NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter)	LOC126806426, TTN +1 more (Y13853* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic