"AiLife Diagnostics, AiLife Diagnostics"[submitter] AND "TTN-AS1"[gene - ClinVar

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 405041	NM_001267550.2(TTN):c.107957T>C (p.Ile35986Thr)	TTN, TTN-AS1 (I35986T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 38439	NM_001267550.2(TTN):c.107889del (p.Lys35963fs)	TTN, TTN-AS1 (K27023fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GPathogenic
Select item 196723	NM_001267550.2(TTN):c.107377+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 372824	NM_001267550.2(TTN):c.104653C>T (p.Arg34885Ter)	TTN, TTN-AS1 (R33244* +5 more)	Single nucleotide variant (nonsense)	not provided +7 more	GLikely pathogenic
Select item 332696	NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del)	TTN, TTN-AS1 (P32074del +5 more)	Deletion (inframe_deletion)	not provided +8 more	GUncertain significance
Select item 229565	NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)	TTN, TTN-AS1 (D31910E +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 404937	NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)	TTN, TTN-AS1 (Y34458* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 374145	NM_001267550.2(TTN):c.103360del (p.Glu34454fs)	TTN, TTN-AS1 (E25514fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +12 more	GConflicting classifications of pathogenicity
Select item 1677937	NM_001267550.2(TTN):c.102554T>A (p.Ile34185Asn)	TTN, TTN-AS1 (I25120N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965916	NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu)	TTN, TTN-AS1 (G24803E +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1678359	NM_001267550.2(TTN):c.100239G>A (p.Trp33413Ter)	LOC126806420, TTN +1 more (W24348* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1678161	NM_001267550.2(TTN):c.100137_100138insTA (p.Val33380Ter)	LOC126806420, TTN +1 more (V24315* +5 more)	Insertion (nonsense)	not provided	GLikely pathogenic
Select item 405187	NM_001267550.2(TTN):c.99080G>A (p.Gly33027Asp)	TTN-AS1, TTN (G33027D +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GUncertain significance
Select item 179725	NM_001267550.2(TTN):c.96535G>A (p.Val32179Met)	LOC126806421, TTN +1 more (V29611M +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1677526	NM_001267550.2(TTN):c.95431C>T (p.Pro31811Ser)	TTN, TTN-AS1 (P22746S +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 132137	NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	TTN, TTN-AS1 (P31732L +5 more)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 165719	NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs)	TTN-AS1, TTN (K22383fs +5 more)	Microsatellite (frameshift variant)	Primary dilated cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 165720	NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)	TTN-AS1, TTN (P22521fs +5 more)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GPathogenic/Likely pathogenic
Select item 1677701	NM_001267550.2(TTN):c.93527T>C (p.Leu31176Pro)	TTN, TTN-AS1 (L22111P +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1678117	NM_001267550.2(TTN):c.93120del (p.Leu31041fs)	TTN, TTN-AS1 (L21976fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1677570	NM_001267550.2(TTN):c.91508G>T (p.Gly30503Val)	TTN, TTN-AS1 (G21438V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 404722	NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)	TTN, TTN-AS1 (L30151P +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 178173	NM_001267550.2(TTN):c.89258T>A (p.Leu29753His)	TTN, TTN-AS1 (L27185H +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 467596	NM_001267550.2(TTN):c.87940G>A (p.Ala29314Thr)	TTN, TTN-AS1 (A29314T +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1677450	NM_001267550.2(TTN):c.87821T>G (p.Leu29274Arg)	TTN, TTN-AS1 (L20209R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677504	NM_001267550.2(TTN):c.87343T>C (p.Tyr29115His)	TTN, TTN-AS1 (Y20050H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1677558	NM_001267550.2(TTN):c.87337G>C (p.Gly29113Arg)	TTN, TTN-AS1 (G20048R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677460	NM_001267550.2(TTN):c.87031T>C (p.Tyr29011His)	TTN, TTN-AS1 (Y19946H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678020	NM_001267550.2(TTN):c.86802_86803delinsAGA (p.Gly28936fs)	TTN, TTN-AS1 (G19871fs +5 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1677736	NM_001267550.2(TTN):c.86467T>C (p.Tyr28823His)	TTN, TTN-AS1 (Y19758H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179759	NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)	TTN, TTN-AS1 (Y24539* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +9 more	GPathogenic/Likely pathogenic
Select item 1678098	NM_001267550.2(TTN):c.80853dup (p.Val26952fs)	TTN, TTN-AS1 (V17887fs +5 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1677894	NM_001267550.2(TTN):c.80816T>C (p.Ile26939Thr)	TTN, TTN-AS1 (I17874T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678497	NM_001267550.2(TTN):c.80681G>C (p.Gly26894Ala)	TTN, TTN-AS1 (G17829A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677788	NM_001267550.2(TTN):c.80564C>G (p.Ala26855Gly)	TTN, TTN-AS1 (A17790G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678159	NM_001267550.2(TTN):c.80190T>A (p.Tyr26730Ter)	TTN, TTN-AS1 (Y17665* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 238847	NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr)	TTN, TTN-AS1 (D26657Y +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1677538	NM_001267550.2(TTN):c.78809A>C (p.Asn26270Thr)	TTN, TTN-AS1 (N17205T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 202409	NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)	TTN, TTN-AS1 (E24419* +5 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 1677583	NM_001267550.2(TTN):c.77804_77814del (p.Thr25935fs)	TTN, TTN-AS1 (T16870fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1677823	NM_001267550.2(TTN):c.77736G>C (p.Trp25912Cys)	TTN, TTN-AS1 (W16847C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678136	NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)	TTN-AS1, TTN (K16664* +5 more)	Single nucleotide variant (nonsense)	not provided +6 more	GLikely pathogenic
Select item 1677718	NM_001267550.2(TTN):c.76574G>T (p.Gly25525Val)	TTN, TTN-AS1 (G16460V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 520818	NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)	TTN, TTN-AS1 (V16148fs +5 more)	Duplication (frameshift variant)	Inborn genetic diseases +8 more	GPathogenic/Likely pathogenic
Select item 1677993	NM_001267550.2(TTN):c.75422C>A (p.Pro25141Gln)	TTN, TTN-AS1 (P16076Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808946	NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr)	TTN, TTN-AS1 (N22465T +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 1678007	NM_001267550.2(TTN):c.71582A>G (p.Tyr23861Cys)	TTN, TTN-AS1 (Y14796C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 679528	NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His)	TTN, TTN-AS1 (Y14988H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1677617	NM_001267550.2(TTN):c.71072T>C (p.Leu23691Ser)	TTN, TTN-AS1 (L14626S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957462	NM_001267550.2(TTN):c.71024_71027del (p.Lys23675fs)	TTN, TTN-AS1 (K14735fs +5 more)	Deletion (frameshift variant)	not provided +3 more	GLikely pathogenic
Select item 404816	NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu)	TTN, TTN-AS1 (P23661L +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GUncertain significance
Select item 1677522	NM_001267550.2(TTN):c.70552G>T (p.Gly23518Cys)	LOC126806422, TTN +1 more (G14453C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196064	NM_001267550.2(TTN):c.70409A>G (p.Tyr23470Cys)	LOC126806422, TTN +1 more (Y23470C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282288	NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser)	LOC126806422, TTN +1 more (G23411S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1677699	NM_001267550.2(TTN):c.68035T>C (p.Tyr22679His)	LOC126806423, TTN +1 more (Y13614H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677917	NM_001267550.2(TTN):c.67750T>G (p.Trp22584Gly)	LOC126806423, TTN +1 more (W13519G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 242425	NM_001267550.2(TTN):c.67349-2A>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 466652	NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)	TTN-AS1, TTN (Y13516fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +7 more	GLikely pathogenic
Select item 1677712	NM_001267550.2(TTN):c.62216A>G (p.Tyr20739Cys)	TTN, TTN-AS1 (Y11674C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47175	NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)	TTN, TTN-AS1 (R20626* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +11 more	GPathogenic/Likely pathogenic
Select item 202397	NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)	TTN, TTN-AS1 (R18878* +5 more)	Single nucleotide variant (nonsense)	Tibial muscular dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 195920	NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)	TTN, TTN-AS1 (K20228* +5 more)	Duplication (nonsense)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 1677523	NM_001267550.2(TTN):c.59240T>G (p.Leu19747Arg)	TTN, TTN-AS1 (L10682R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1677743	NM_001267550.2(TTN):c.58649A>G (p.Tyr19550Cys)	TTN, TTN-AS1 (Y10485C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678110	NM_001267550.2(TTN):c.57655del (p.Tyr19219fs)	TTN, TTN-AS1 (Y10154fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1677785	NM_001267550.2(TTN):c.57613T>C (p.Trp19205Arg)	TTN, TTN-AS1 (W10140R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677440	NM_001267550.2(TTN):c.56875T>A (p.Tyr18959Asn)	TTN, TTN-AS1 (Y10019N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678099	NM_001267550.2(TTN):c.56339_56343del (p.Asn18780fs)	TTN, TTN-AS1 (N16212fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1677534	NM_001267550.2(TTN):c.56141C>T (p.Pro18714Leu)	TTN, TTN-AS1 (P16146L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 577369	NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)	TTN, TTN-AS1 (R18554* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +7 more	GLikely pathogenic
Select item 535037	NM_001267550.2(TTN):c.52406-2A>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 573857	NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)	TTN, TTN-AS1 (E17217* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +6 more	GLikely pathogenic
Select item 1678171	NM_001267550.2(TTN):c.50295dup (p.Arg16766fs)	TTN, TTN-AS1 (R14198fs +5 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 179411	NM_001267550.2(TTN):c.49648+2del	TTN, TTN-AS1	Deletion (splice donor variant)	not provided +10 more	GPathogenic
Select item 1677704	NM_001267550.2(TTN):c.49574T>C (p.Val16525Ala)	TTN, TTN-AS1 (V13957A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 264517	NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)	TTN, TTN-AS1 (R15832* +5 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 1677686	NM_001267550.2(TTN):c.47100G>C (p.Lys15700Asn)	TTN, TTN-AS1 (K13132N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 202653	NM_001267550.2(TTN):c.46973C>T (p.Pro15658Leu)	TTN-AS1, TTN (P14017L +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 78