"Ambry Genetics"[submitter] AND "LOC129935183"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518547	NM_001267550.2(TTN):c.105967G>A (p.Gly35323Ser)	TTN-AS1, LOC129935183 +1 more (G26258S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1648428	NM_001267550.2(TTN):c.105945A>G (p.Lys35315=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 222864	NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)	LOC129935183, TTN +1 more (L35312* +5 more)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 167753	NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1760938	NM_001267550.2(TTN):c.105867T>A (p.Thr35289=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1760935	NM_001267550.2(TTN):c.105858A>G (p.Pro35286=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1760933	NM_001267550.2(TTN):c.105852C>T (p.Ala35284=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 286254	NM_001267550.2(TTN):c.105852C>G (p.Ala35284=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3223363	NM_001267550.2(TTN):c.105840C>A (p.Leu35280=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1053156	NM_001267550.2(TTN):c.105834G>C (p.Gln35278His)	LOC129935183, TTN +1 more (Q26213H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 1113830	NM_001267550.2(TTN):c.105831T>G (p.Val35277=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 752050	NM_001267550.2(TTN):c.105813A>C (p.Pro35271=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 196656	NM_001267550.2(TTN):c.105805del (p.Thr35269fs)	LOC129935183, TTN +1 more (T32701fs +5 more)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1624218	NM_001267550.2(TTN):c.105789C>T (p.Ala35263=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 202340	NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)	LOC129935183, TTN +1 more (A26198F +4 more)	Indel (missense variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 47702	NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)	LOC129935183, TTN +1 more (A35263V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 47701	NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)	LOC129935183, TTN +1 more (A35263S +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 47700	NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)	LOC129935183, TTN +1 more (P35261L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 512905	NM_001267550.2(TTN):c.105780C>T (p.His35260=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 47699	NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)	LOC129935183, TTN +1 more (E35257K +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 1908101	NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)	LOC129935183, TTN +1 more (P26185fs +5 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 286984	NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)	LOC129935183, TTN +1 more (V35253M +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 288511	NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)	TTN-AS1, LOC129935183 +1 more (R35252* +5 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 757139	NM_001267550.2(TTN):c.105732A>C (p.Pro35244=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 178891	NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln)	LOC129935183, TTN +1 more (R32672Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 518674	NM_001267550.2(TTN):c.105677A>C (p.Lys35226Thr)	LOC129935183, TTN +1 more (K26161T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1760872	NM_001267550.2(TTN):c.105666G>A (p.Arg35222=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 405066	NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu)	LOC129935183, TTN +1 more (F35214L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 1760867	NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)	LOC129935183, TTN +1 more (E33570del +5 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 1760864	NM_001267550.2(TTN):c.105624G>T (p.Gly35208=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586574	NM_001267550.2(TTN):c.105613_105614del (p.Asn35205fs)	LOC129935183, TTN +1 more (N26265fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1760828	NM_001267550.2(TTN):c.105585T>C (p.Asp35195=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 47694	NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +6 more	GBenign

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Items: 33