ClinVar for Gene (Select 126806426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3027198	NM_001267550.2(TTN):c.48984A>G (p.Thr16328=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2954138	NM_001267550.2(TTN):c.48760+2T>C	LOC126806426, TTN +1 more	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2952819	NM_001267550.2(TTN):c.48767dup (p.Glu16257fs)	LOC126806426, TTN +1 more (E13689fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2951669	NM_001267550.2(TTN):c.48761-9C>T	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2950969	NM_001267550.2(TTN):c.48808_48809del (p.Val16270fs)	LOC126806426, TTN +1 more (V13702fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2950584	NM_001267550.2(TTN):c.49048+1G>A	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2949387	NM_001267550.2(TTN):c.48639-18T>C	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2949028	NM_001267550.2(TTN):c.48978T>G (p.Thr16326=)	TTN-AS1, LOC126806426 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2948621	NM_001267550.2(TTN):c.48657T>C (p.Leu16219=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2948523	NM_001267550.2(TTN):c.48832del (p.Leu16278fs)	LOC126806426, TTN +1 more (L16278fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2947421	NM_001267550.2(TTN):c.49203C>T (p.Leu16401=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2945787	NM_001267550.2(TTN):c.49122A>G (p.Pro16374=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2945679	NM_001267550.2(TTN):c.48638+10T>C	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2945584	NM_001267550.2(TTN):c.48636A>T (p.Thr16212=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2943177	NM_001267550.2(TTN):c.49049-2A>C	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2942876	NM_001267550.2(TTN):c.48760+1G>C	LOC126806426, TTN +1 more	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2941633	NM_001267550.2(TTN):c.48978T>C (p.Thr16326=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2940654	NM_001267550.2(TTN):c.48638+19A>G	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2935834	NM_001267550.2(TTN):c.48792C>T (p.Leu16264=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2934060	NM_001267550.2(TTN):c.48761-8C>T	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2934058	NM_001267550.2(TTN):c.48777C>T (p.Phe16259=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2925818	NM_001267550.2(TTN):c.49011_49012del (p.Cys16337fs)	TTN-AS1, LOC126806426 +1 more (C13769fs +5 more)	Microsatellite (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2925242	NM_001267550.2(TTN):c.49048+10del	LOC126806426, TTN +1 more	Deletion (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2921368	NM_001267550.2(TTN):c.48760+13G>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2691076	NM_001267550.2(TTN):c.49219G>A (p.Asp16407Asn)	LOC126806426, TTN +1 more (D13839N +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GLikely benign
Select item 2690387	NM_001267550.2(TTN):c.49121C>T (p.Pro16374Leu)	LOC126806426, TTN +1 more (P13806L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2690320	NM_001267550.2(TTN):c.48809T>C (p.Val16270Ala)	LOC126806426, TTN +1 more (V13702A +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2651638	NM_001267550.2(TTN):c.48937A>C (p.Lys16313Gln)	LOC126806426, TTN +1 more (K13745Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2651637	NM_001267550.2(TTN):c.49057G>A (p.Gly16353Arg)	LOC126806426, TTN +1 more (G13785R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 2579187	GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1	LOC126806422, LOC126806423 +7 more	Copy number loss	Dilated cardiomyopathy 1G	GPathogenic
Select item 2576612	NM_001267550.2(TTN):c.48638+1del	LOC126806426, TTN +1 more	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 2442918	NM_001267550.2(TTN):c.48685G>A (p.Val16229Met)	LOC126806426, TTN +1 more (V13661M +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2442835	NM_001267550.2(TTN):c.48690G>A (p.Lys16230=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2438231	NM_001267550.2(TTN):c.48872C>T (p.Thr16291Ile)	LOC126806426, TTN +1 more (T13723I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2438177	NM_001267550.2(TTN):c.48808G>A (p.Val16270Ile)	LOC126806426, TTN +1 more (V13702I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2438106	NM_001267550.2(TTN):c.49054C>A (p.Pro16352Thr)	TTN-AS1, LOC126806426 +1 more (P13784T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2437919	NM_001267550.2(TTN):c.48932C>A (p.Pro16311His)	LOC126806426, TTN +1 more (P13743H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2437783	NM_001267550.2(TTN):c.49042G>A (p.Val16348Ile)	LOC126806426, TTN +1 more (V13780I +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 2140017	NM_001267550.2(TTN):c.48761-15T>C	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2135362	NM_001267550.2(TTN):c.49269C>T (p.Phe16423=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2127132	NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)	LOC126806426, TTN +1 more (E14613Q +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2124930	NM_001267550.2(TTN):c.48760+1G>A	LOC126806426, TTN +1 more	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2120097	NM_001267550.2(TTN):c.48760+20G>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2117655	NM_001267550.2(TTN):c.49187_49191dup (p.Trp16398fs)	LOC126806426, TTN +1 more (W13830fs +5 more)	Duplication (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
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)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2099152	NM_001267550.2(TTN):c.48906C>T (p.Asp16302=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2099111	NM_001267550.2(TTN):c.48753C>T (p.Asp16251=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2082152	NM_001267550.2(TTN):c.49056C>T (p.Pro16352=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2071681	NM_001267550.2(TTN):c.48761-20A>C	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2064735	NM_001267550.2(TTN):c.49026T>G (p.Ala16342=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2044616	NM_001267550.2(TTN):c.48681C>T (p.Tyr16227=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2035992	NM_001267550.2(TTN):c.48945A>G (p.Thr16315=)	TTN-AS1, LOC126806426 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2035751	NM_001267550.2(TTN):c.48750G>A (p.Val16250=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2020392	NM_001267550.2(TTN):c.48666C>A (p.Gly16222=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2004289	NM_001267550.2(TTN):c.48913_48916dup (p.Thr16306fs)	LOC126806426, TTN +1 more (T7433fs +5 more)	Duplication (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1996154	NM_001267550.2(TTN):c.48660G>A (p.Glu16220=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1994289	NM_001267550.2(TTN):c.49049-11G>A	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1807501	NM_001267550.2(TTN):c.48829G>A (p.Glu16277Lys)	LOC126806426, TTN +1 more (E13709K +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 1787496	NM_001267550.2(TTN):c.49173A>G (p.Arg16391=)	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 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 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 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 1786914	NM_001267550.2(TTN):c.48810A>G (p.Val16270=)	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 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 1786814	NM_001267550.2(TTN):c.48760+1G>T	LOC126806426, TTN +1 more	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +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)	Autosomal recessive limb-girdle muscular dystrophy type 2J +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 1786769	NM_001267550.2(TTN):c.48723C>T (p.Ser16241=)	LOC126806426, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
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
Select item 1701398	NM_001267550.2(TTN):c.48772A>G (p.Ile16258Val)	LOC126806426, TTN +1 more (I13690V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1664270	NM_001267550.2(TTN):c.48638+19A>C	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1663431	NM_001267550.2(TTN):c.48864T>A (p.Pro16288=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1662809	NM_001267550.2(TTN):c.48969A>G (p.Arg16323=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1658010	NM_001267550.2(TTN):c.49059A>G (p.Gly16353=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1642659	NM_001267550.2(TTN):c.49137T>G (p.Gly16379=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1640939	NM_001267550.2(TTN):c.49049-8A>G	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1637150	NM_001267550.2(TTN):c.48639-19C>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1610984	NM_001267550.2(TTN):c.49049-20A>G	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1607919	NM_001267550.2(TTN):c.48765C>T (p.Ala16255=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1607615	NM_001267550.2(TTN):c.48639-14_48639-13del	LOC126806426, TTN +1 more	Deletion (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1577271	NM_001267550.2(TTN):c.49049-16G>A	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +2 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 1551447	NM_001267550.2(TTN):c.48638+14T>C	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1543956	NM_001267550.2(TTN):c.48760+17T>A	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1532688	NM_001267550.2(TTN):c.48761-14C>T	LOC126806426, TTN +1 more	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
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)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1495861	NM_001267550.2(TTN):c.49049-1G>C	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1460508	NM_001267550.2(TTN):c.48780C>T (p.Leu16260=)	LOC126806426, TTN +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1329161	NM_001267550.2(TTN):c.49094A>G (p.Asn16365Ser)	LOC126806426, TTN +1 more (N13797S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1323724	NM_001267550.2(TTN):c.48736del (p.Glu16246fs)	LOC126806426, TTN +1 more (E13678fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1309999	NM_001267550.2(TTN):c.48652G>A (p.Gly16218Ser)	LOC126806426, TTN +1 more (G13650S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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