"Ambry Genetics"[submitter] AND "LOC126806426"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332848	NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 1551534	NM_001267550.2(TTN):c.49239C>T (p.Thr16413=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2566412	NM_001267550.2(TTN):c.49224A>G (p.Thr16408=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 682088	NM_001267550.2(TTN):c.49213G>A (p.Val16405Ile)	LOC126806426, TTN +1 more (V16405I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1531437	NM_001267550.2(TTN):c.49212C>T (p.Thr16404=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 191951	NM_001267550.2(TTN):c.49207T>C (p.Ser16403Pro)	LOC126806426, TTN +1 more (S13835P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1787634	NM_001267550.2(TTN):c.49205C>T (p.Ser16402Leu)	LOC126806426, TTN +1 more (S7337L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1167545	NM_001267550.2(TTN):c.49200G>A (p.Lys16400=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 3223221	NM_001267550.2(TTN):c.49179T>C (p.Thr16393=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1787496	NM_001267550.2(TTN):c.49173A>G (p.Arg16391=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 195636	NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)	LOC126806426, TTN +1 more (R16391Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 636978	NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)	LOC126806426, TTN +1 more (R16391* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 695841	NM_001267550.2(TTN):c.49128C>T (p.Arg16376=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 281995	NM_001267550.2(TTN):c.49127G>A (p.Arg16376His)	LOC126806426, TTN +1 more (R14735H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1787409	NM_001267550.2(TTN):c.49102T>C (p.Cys16368Arg)	LOC126806426, TTN +1 more (C16368R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 290717	NM_001267550.2(TTN):c.49060C>T (p.Pro16354Ser)	LOC126806426, TTN +1 more (P16354S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 535740	NM_001267550.2(TTN):c.49041C>T (p.Asn16347=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +3 more	GLikely benign
Select item 2116783	NM_001267550.2(TTN):c.49038G>A (p.Val16346=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 137792	NM_001267550.2(TTN):c.49032G>A (p.Val16344=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 238790	NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp)	LOC126806426, TTN +1 more (R16339W +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1787268	NM_001267550.2(TTN):c.49014C>T (p.Gly16338=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 228101	NM_001267550.2(TTN):c.49008G>A (p.Val16336=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +7 more	GLikely benign
Select item 47026	NM_001267550.2(TTN):c.48996G>A (p.Glu16332=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +7 more	GBenign
Select item 264124	NM_001267550.2(TTN):c.48991_48993del (p.Ile16331del)	LOC126806426, TTN +1 more (I16331del +5 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 467210	NM_001267550.2(TTN):c.48987T>C (p.Tyr16329=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 390824	NM_001267550.2(TTN):c.48960T>C (p.Asp16320=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 47025	NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	LOC126806426, TTN +1 more (I16318T +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 995664	NM_001267550.2(TTN):c.48952A>C (p.Ile16318Leu)	LOC126806426, TTN +1 more (I13750L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 749121	NM_001267550.2(TTN):c.48933T>C (p.Pro16311=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 2451923	NM_001267550.2(TTN):c.48930C>T (p.Val16310=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 263512	NM_001267550.2(TTN):c.48903G>C (p.Gln16301His)	LOC126806426, TTN +1 more (Q13733H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3330053	NM_001267550.2(TTN):c.48889_48893del (p.Met16297fs)	LOC126806426, TTN +1 more (M7232fs +5 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 535028	NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)	LOC126806426, TTN +1 more (G16284R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2586527	NM_001267550.2(TTN):c.48849C>A (p.Thr16283=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 516822	NM_001267550.2(TTN):c.48849C>T (p.Thr16283=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GLikely benign
Select item 1786957	NM_001267550.2(TTN):c.48843C>G (p.Thr16281=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2586533	NM_001267550.2(TTN):c.48837T>G (p.Pro16279=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 263497	NM_001267550.2(TTN):c.48827T>C (p.Ile16276Thr)	LOC126806426, TTN +1 more (I13708T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2200886	NM_001267550.2(TTN):c.48819G>A (p.Gly16273=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3223220	NM_001267550.2(TTN):c.48813del (p.Ala16272fs)	LOC126806426, TTN +1 more (A13704fs +5 more)	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 1786914	NM_001267550.2(TTN):c.48810A>G (p.Val16270=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 510945	NM_001267550.2(TTN):c.48783T>C (p.Asp16261=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 681487	NM_001267550.2(TTN):c.48768A>G (p.Pro16256=)	TTN-AS1, LOC126806426 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 1786814	NM_001267550.2(TTN):c.48760+1G>T	LOC126806426, TTN +1 more	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 1786815	NM_001267550.2(TTN):c.48760G>T (p.Glu16254Ter)	LOC126806426, TTN +1 more (E13686* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 1786801	NM_001267550.2(TTN):c.48747T>C (p.Ala16249=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1786791	NM_001267550.2(TTN):c.48742C>A (p.Gln16248Lys)	LOC126806426, TTN +1 more (Q14607K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1786779	NM_001267550.2(TTN):c.48728C>T (p.Pro16243Leu)	LOC126806426, TTN +1 more (P16243L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 501926	NM_001267550.2(TTN):c.48727C>G (p.Pro16243Ala)	LOC126806426, TTN +1 more (P13675A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 47024	NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser)	LOC126806426, TTN +1 more (P16243S +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +10 more	GConflicting classifications of pathogenicity
Select item 1786769	NM_001267550.2(TTN):c.48723C>T (p.Ser16241=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1141770	NM_001267550.2(TTN):c.48693C>T (p.Ala16231=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 994577	NM_001267550.2(TTN):c.48684C>T (p.Arg16228=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 202669	NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)	LOC126806426, TTN +1 more (R14587H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 332849	NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser)	LOC126806426, TTN +1 more (W13656S +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 1040303	NM_001267550.2(TTN):c.48638+5del	LOC126806426, TTN +1 more	Deletion (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 47023	NM_001267550.2(TTN):c.48638+5G>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1786624	NM_001267550.2(TTN):c.48638+2T>G	LOC126806426, TTN +1 more	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic

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Items: 58