"MVZ Medizinische Genetik Mainz"[submitter] AND "TTN"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338387	NM_001267550.2(TTN):c.96303_96310+4del	LOC126806421, TTN +1 more	Deletion (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3256667	NM_001267550.2(TTN):c.84281_84285del (p.Lys28094fs)	TTN, TTN-AS1 (K19029fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3066104	NM_001267550.2(TTN):c.78685A>T (p.Arg26229Ter)	TTN, TTN-AS1 (R17164* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3338398	NM_001267550.2(TTN):c.61445_61446del (p.Cys20482fs)	TTN, TTN-AS1 (C11417fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3236087	NM_001267550.2(TTN):c.61408_61409del (p.Ile20470fs)	TTN, TTN-AS1 (I11405fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3066150	NM_001267550.2(TTN):c.56905del (p.Ala18969fs)	TTN, TTN-AS1 (A10029fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3236811	NM_001267550.2(TTN):c.49455C>G (p.Tyr16485Ter)	TTN, TTN-AS1 (Y13917* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3342282	NM_001267550.2(TTN):c.12321del (p.Pro4108fs)	TTN (P3745fs +4 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G	GUncertain significance