ClinVar for MedGen (Select 350930) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340517	NM_001267550.2(TTN):c.48571_48573delinsT (p.Ile16191fs)	TTN, TTN-AS1 (I13623fs +5 more)	Indel (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 2582708	NM_001267550.2(TTN):c.51818G>A (p.Gly17273Glu)	TTN, TTN-AS1 (G14705E +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 2582323	NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)	TTN, TTN-AS1	Deletion (non-coding transcript variant +1 more)	Tibial muscular dystrophy +5 more	GLikely pathogenic
Select item 2581068	NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter)	TTN, TTN-AS1 (E21826* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 9 +3 more	GLikely pathogenic
Select item 2572053	NM_001267550.2(TTN):c.53758A>G (p.Thr17920Ala)	TTN, TTN-AS1 (T15352A +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 2500878	NR_038272.1(TTN-AS1):n.450del	LOC126806420, TTN +1 more (N24174fs +5 more)	Deletion (non-coding transcript variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 2500106	NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter)	TTN, TTN-AS1 (Y12353* +5 more)	Insertion (nonsense)	Early-onset myopathy with fatal cardiomyopathy +5 more	GPathogenic
Select item 2442111	NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)	TTN (V12841A +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +5 more	GUncertain significance
Select item 2441845	NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)	TTN, TTN-AS1 (H14783Q +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 2441805	NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)	TTN, TTN-AS1 (D21950H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 2441755	NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)	TTN, TTN-AS1 (T21959I +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2441744	NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)	TTN (E10684K +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2441741	NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)	TTN, TTN-AS1 (K10056Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2441740	NM_001267550.2(TTN):c.33910+3A>G	TTN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 2441737	NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)	TTN (L2718V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 2441726	NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)	LOC126806425, TTN +1 more (H14997fs +5 more)	Deletion (non-coding transcript variant +1 more)	not provided +6 more	GLikely pathogenic
Select item 2441697	NM_001267550.2(TTN):c.11311+1872G>C	TTN (K3716N)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2441695	NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)	TTN, TTN-AS1 (I24059T +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2441627	NM_001267550.2(TTN):c.86822-8T>G	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GConflicting classifications of pathogenicity
Select item 2437399	NM_001267550.2(TTN):c.69083C>T (p.Thr23028Met)	TTN, TTN-AS1 (T13963M +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1709136	NM_001267550.2(TTN):c.86456A>C (p.Asp28819Ala)	TTN, TTN-AS1 (D19754A +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 1696007	NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)	TTN (A10341V +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 1695793	NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)	TTN, TTN-AS1 (E10090del +5 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1693848	NM_001267550.2(TTN):c.22772A>G (p.Asn7591Ser)	TTN (N6347S +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1693839	NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr)	TTN, TTN-AS1 (I10613T +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1693832	NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)	LOC126806421, TTN +1 more (P23247S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1691016	NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr)	TTN (M11974T)	Single nucleotide variant (missense variant +1 more)	See cases +6 more	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 1678017	NM_001267550.2(TTN):c.37178dup (p.Pro12394fs)	TTN (P12394fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 1677763	NM_133379.5(TTN):c.15652C>T (p.Arg5218Ter)	TTN (R5218*)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GUncertain significance
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 1677684	NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs)	TTN (S12030fs)	Microsatellite (frameshift variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1677641	NM_133379.5(TTN):c.13748_13751del (p.Ile4583fs)	TTN (I4583fs)	Deletion (frameshift variant +1 more)	not provided +6 more	GUncertain significance
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 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 1677395	NM_001267550.2(TTN):c.1360_1365delinsCATCCA (p.Thr454_Thr455delinsHisPro)	TTN	Indel (missense variant)	not provided +6 more	GUncertain significance
Select item 1669537	NM_001267550.2(TTN):c.36532+13G>A	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 1667427	NM_001267550.2(TTN):c.67637-9A>G	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +5 more	GBenign/Likely benign
Select item 1663749	NM_001267550.2(TTN):c.91271-20C>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Tibial muscular dystrophy +5 more	GLikely benign
Select item 1658868	NM_001267550.2(TTN):c.97419T>C (p.Arg32473=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GLikely benign
Select item 1650393	NM_001267550.2(TTN):c.65565C>T (p.Leu21855=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Tibial muscular dystrophy +6 more	GLikely benign
Select item 1643874	NM_001267550.2(TTN):c.60221-19T>C	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 1642536	NM_001267550.2(TTN):c.84633T>C (p.Asp28211=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 1642088	NM_001267550.2(TTN):c.40057+10A>G	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 1626005	NM_001267550.2(TTN):c.4814+9G>C	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +5 more	GLikely benign
Select item 1621577	NM_001267550.2(TTN):c.38627-16A>G	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +5 more	GLikely benign
Select item 1619693	NM_001267550.2(TTN):c.66624A>G (p.Leu22208=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 1604708	NM_001267550.2(TTN):c.34787-19del	TTN	Deletion (intron variant)	Dilated cardiomyopathy 1G +5 more	GBenign/Likely benign
Select item 1601177	NM_001267550.2(TTN):c.100766-11T>C	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +5 more	GBenign/Likely benign
Select item 1598078	NM_001267550.2(TTN):c.30414T>C (p.Asn10138=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GLikely benign
Select item 1598032	NM_001267550.2(TTN):c.34787-16C>T	TTN	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GLikely benign
Select item 1587643	NM_001267550.2(TTN):c.36281-13A>T	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 1586099	NM_001267550.2(TTN):c.25104C>T (p.Asp8368=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 1573441	NM_001267550.2(TTN):c.107681-18dup	TTN, TTN-AS1	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 1565712	NM_001267550.2(TTN):c.4314C>T (p.Ser1438=)	LOC101927055, TTN	Single nucleotide variant (non-coding transcript variant +1 more)	Tibial muscular dystrophy +5 more	GLikely benign
Select item 1543319	NM_001267550.2(TTN):c.36159G>C (p.Thr12053=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +5 more	GLikely benign
Select item 1532188	NM_001267550.2(TTN):c.100171+16_100171+17insA	LOC126806420, TTN +1 more	Insertion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
Select item 1508786	NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter)	TTN, TTN-AS1 (Q26794* +5 more)	Single nucleotide variant (nonsense)	Tibial muscular dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 1507592	NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs)	TTN (K6332fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 1502994	NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs)	TTN (M6353fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1498425	NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)	TTN (E465*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1497348	NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)	TTN, TTN-AS1 (T11212fs +5 more)	Microsatellite (non-coding transcript variant +1 more)	Cardiovascular phenotype +6 more	GLikely pathogenic
Select item 1487346	NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln)	TTN-AS1, TTN (E25815Q +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 1483897	NM_001267550.2(TTN):c.1537-2A>G	TTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1474316	NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val)	TTN, TTN-AS1 (L24619V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1465146	NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser)	TTN, TTN-AS1 (Y32494S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1463199	NM_001267550.2(TTN):c.44281+5G>A	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1460556	NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro)	LOC126806421, TTN +1 more (L23104P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1440079	NM_001267550.2(TTN):c.33419-2A>C	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1438287	NM_001267550.2(TTN):c.14092+5G>A	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 1434094	NM_001267550.2(TTN):c.106906G>A (p.Val35636Met)	TTN, TTN-AS1 (V26571M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1432461	NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser)	LOC129935183, TTN +1 more (T26378S +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 1406148	NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln)	TTN, TTN-AS1 (E25748Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1390977	NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys)	TTN, TTN-AS1 (E25780K +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GUncertain significance
Select item 1389718	NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp)	TTN, TTN-AS1 (V24918D +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GUncertain significance
Select item 1339674	NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile)	LOC126806431, TTN (T4609I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +6 more	GUncertain significance
Select item 1338890	NM_001267550.2(TTN):c.100373T>C (p.Ile33458Thr)	TTN, TTN-AS1 (I24393T +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 1333838	NM_001267550.2(TTN):c.82720C>T (p.Pro27574Ser)	TTN, TTN-AS1 (P18509S +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure	GUncertain significance
Select item 1330778	NM_001267550.2(TTN):c.74372C>T (p.Thr24791Ile)	TTN, TTN-AS1 (T15726I +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1329229	NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala)	TTN (E3171A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1329220	NM_001267550.2(TTN):c.94711G>A (p.Val31571Met)	TTN, TTN-AS1 (V22506M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 1329174	NM_001267550.2(TTN):c.64025C>G (p.Ala21342Gly)	TTN, TTN-AS1 (A12277G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1329143	NM_001267550.2(TTN):c.35025G>A (p.Val11675=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +6 more	GLikely benign
Select item 1329142	NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln)	TTN (E10206Q +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 1329106	NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr)	TTN (I3398T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1328760	NM_001267550.2(TTN):c.11984C>T (p.Thr3995Ile)	TTN (T3632I +4 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 1328195	NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala)	TTN (S10276A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GUncertain significance
Select item 1328079	NM_001267550.2(TTN):c.11027C>T (p.Thr3676Met)	TTN (T3505M +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1327415	NM_001267550.2(TTN):c.72390G>C (p.Leu24130Phe)	TTN, TTN-AS1 (L15065F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	Gnot provided
Select item 1326903	NM_001267550.2(TTN):c.69051A>G (p.Glu23017=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +5 more	Gnot provided
Select item 1325260	NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter)	TTN, TTN-AS1 (S24816* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +6 more	GLikely pathogenic
Select item 1321676	NM_133379.5(TTN):c.14113C>T (p.Arg4705Ter)	LOC126806432, TTN (R4705*)	Single nucleotide variant (nonsense +1 more)	not provided +6 more	GUncertain significance
Select item 1321651	NM_001267550.2(TTN):c.72521C>T (p.Ala24174Val)	TTN, TTN-AS1 (A15109V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1321355	NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys)	TTN, TTN-AS1 (E20553K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1313652	NM_001267550.2(TTN):c.84122C>T (p.Ala28041Val)	TTN, TTN-AS1 (A18976V +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1312921	NM_001267550.2(TTN):c.27724G>T (p.Asp9242Tyr)	TTN (D7998Y +2 more)	Single nucleotide variant (intron variant +1 more)	not provided +6 more	GUncertain significance
Select item 1312710	NM_001267550.2(TTN):c.62314G>A (p.Asp20772Asn)	TTN, TTN-AS1 (D11707N +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1311834	NM_001267550.2(TTN):c.39818-4_39821delinsA	TTN	Indel (intron variant +1 more)	not provided +6 more	GUncertain significance
Select item 1311225	NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr)	TTN, TTN-AS1 (R25691T +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1310898	NM_001267550.2(TTN):c.84347T>C (p.Ile28116Thr)	TTN, TTN-AS1 (I19051T +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance

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