"Clinical Genetics, Academic Medical Center"[submitter] AND "LOC126806 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1284861	NM_001267550.2(TTN):c.70560A>G (p.Pro23520=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 448814	NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn)	LOC126806422, TTN +1 more (K23495N +5 more)	Single nucleotide variant (missense variant)	not provided +2 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)	Cardiovascular phenotype +8 more	GBenign/Likely benign
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 1328095	NM_001267550.2(TTN):c.70047G>C (p.Glu23349Asp)	LOC126806422, TTN +1 more (E14284D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288075	NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 47279	NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)	LOC126806422, TTN +1 more (V23302I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1284305	NM_001267550.2(TTN):c.69835_69844del (p.Glu23278_His23279insTer)	LOC126806422, TTN +1 more	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 47277	NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	LOC126806422, TTN +1 more (G23274D +5 more)	Single nucleotide variant (missense variant)	not provided +9 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)	Dilated cardiomyopathy 1G +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)	Early-onset myopathy with fatal cardiomyopathy +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)	Autosomal recessive limb-girdle muscular dystrophy type 2J +12 more	GBenign/Likely benign
Select item 378825	NM_001267550.2(TTN):c.69630C>T (p.Tyr23210=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 47274	NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign