"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 467410	NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser)	LOC126806423, TTN +1 more (P22750S +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 47262	NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 47261	NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 178197	NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 2651614	NM_001267550.2(TTN):c.67959T>A (p.Phe22653Leu)	LOC126806423, TTN +1 more (F13588L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026774	NM_001267550.2(TTN):c.67890C>G (p.Gly22630=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 178198	NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 2651615	NM_001267550.2(TTN):c.67740A>G (p.Pro22580=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 220680	NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)	TTN-AS1, LOC126806423 +1 more (S22535N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 389827	NM_001267550.2(TTN):c.67587T>C (p.Asn22529=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2672837	NM_001267550.2(TTN):c.67543G>T (p.Glu22515Ter)	LOC126806423, TTN +1 more (E13450* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3027083	NM_001267550.2(TTN):c.67541C>G (p.Thr22514Ser)	LOC126806423, TTN +1 more (T13449S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance