"KardioGenetik, Herz- und Diabeteszentrum NRW"[submitter] AND "TTN"[ge - 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 2579646	NM_001267550.2(TTN):c.95747_95753del (p.Pro31916fs)	TTN, TTN-AS1 (P22851fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 179185	NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln)	TTN (R8121Q +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 3066457	NM_001267550.2(TTN):c.14314dup (p.Cys4772fs)	TTN (C3528fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 166226	NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)	TTN (Y3526C +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 203234	NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu)	TTN (K4401E +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 432949	NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter)	TTN (Q2178* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3066455	NM_001267550.2(TTN):c.5829_5830delinsGT (p.Glu1944Ter)	TTN (E1898* +1 more)	Indel (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 1205452	NM_001267550.2(TTN):c.5308A>G (p.Arg1770Gly)	TTN (R1724G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GConflicting classifications of pathogenicity
Select item 1218352	NM_001267550.2(TTN):c.4639G>A (p.Val1547Met)	LOC101927055, TTN (V1501M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GConflicting classifications of pathogenicity
Select item 1057681	NM_001267550.2(TTN):c.3664C>T (p.Gln1222Ter)	TTN (Q1176* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic