"Ambry Genetics"[submitter] AND "LOC129935185"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518882	NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp)	LOC129935185, TTN +1 more (E25995D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 47684	NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)	LOC129935185, TTN +1 more (E35060D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 1760654	NM_001267550.2(TTN):c.105161del (p.Pro35054fs)	LOC129935185, TTN +1 more (P26114fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 698413	NM_001267550.2(TTN):c.105156T>C (p.Val35052=)	LOC129935185, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 96329	NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr)	LOC129935185, TTN +1 more (R35050T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 698363	NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)	LOC129935185, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1622761	NM_001267550.2(TTN):c.105135T>C (p.Asp35045=)	LOC129935185, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign