"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1268064 - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 808976	NM_001267550.2(TTN):c.60175G>C (p.Gly20059Arg)	LOC126806424, TTN +1 more (G20059R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47156	NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 574210	NM_001267550.2(TTN):c.59926+1G>A	TTN-AS1, LOC126806424 +1 more	Single nucleotide variant (splice donor variant)	Cardiomyopathy +3 more	GPathogenic
Select item 178203	NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)	LOC126806424, TTN +1 more (T17342I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 2578883	NM_001267550.2(TTN):c.59726T>C (p.Ile19909Thr)	LOC126806424, TTN +1 more (I10844T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 165935	NM_001267550.2(TTN):c.59618T>C (p.Leu19873Pro)	LOC126806424, TTN +1 more (L17305P +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 808979	NM_001267550.2(TTN):c.59418T>C (p.Leu19806=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1630544	NM_001267550.2(TTN):c.59352T>C (p.Pro19784=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 264060	NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)	LOC126806424, TTN +1 more (P10719fs +5 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 47151	NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	TTN-related condition +8 more	GConflicting classifications of pathogenicity
Select item 47150	NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 47149	NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)	LOC126806424, TTN +1 more (E19773G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity