"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96300	NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 47288	NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 202824	NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile)	LOC126806422, TTN +1 more (V21789I +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +7 more	GUncertain significance
Select item 178192	NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)	LOC126806422, TTN +1 more (I20849T +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 47283	NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)	LOC126806422, TTN +1 more (T23394M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 196082	NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)	LOC126806422, TTN +1 more (V23366A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 47277	NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	LOC126806422, TTN +1 more (G23274D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 47276	NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)	LOC126806422, TTN +1 more (P23247L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 137806	NM_001267550.2(TTN):c.69716-5C>G	LOC126806422, TTN +1 more	Single nucleotide variant (intron variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 47275	NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)	LOC126806422, TTN +1 more (S23226G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +12 more	GBenign/Likely benign
Select item 47274	NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	TTN-related condition +9 more	GBenign/Likely benign