ClinVar for MedGen (Select 348780) - 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 3242037	NM_001267550.2(TTN):c.31433C>G (p.Ala10478Gly)	TTN (A10161G +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 3237414	NM_001267550.2(TTN):c.100994G>A (p.Gly33665Asp)	TTN, TTN-AS1 (G24600D +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 3236158	NM_001267550.2(TTN):c.45896-2A>C	TTN	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 9	GPathogenic
Select item 2672152	NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)	TTN (R8711* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 2665063	NM_001267550.2(TTN):c.91583T>G (p.Phe30528Cys)	TTN, TTN-AS1 (F21463C +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2665060	NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)	TTN, TTN-AS1 (H25087R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 2665053	NM_001267550.2(TTN):c.22496C>T (p.Thr7499Ile)	TTN (T6255I +2 more)	Single nucleotide variant (intron variant +1 more)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2665052	NM_001267550.2(TTN):c.82682T>C (p.Phe27561Ser)	TTN, TTN-AS1 (F18496S +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2665026	NM_001267550.2(TTN):c.88379T>C (p.Leu29460Pro)	TTN, TTN-AS1 (L20395P +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2664319	NM_001267550.2(TTN):c.101835C>A (p.Ile33945=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 9	GLikely benign
Select item 2584632	NM_001267550.2(TTN):c.94520T>C (p.Val31507Ala)	TTN, TTN-AS1 (V22442A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2584628	NM_001267550.2(TTN):c.35363A>G (p.Glu11788Gly)	TTN (E10487G +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2584626	NM_001267550.2(TTN):c.26333G>C (p.Arg8778Thr)	TTN (R7534T +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2584621	NM_001267550.2(TTN):c.38918C>G (p.Pro12973Arg)	TTN (P12973R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2584611	NM_001267550.2(TTN):c.74609C>T (p.Ala24870Val)	TTN, TTN-AS1 (A15805V +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +2 more	GUncertain significance
Select item 2584589	NM_001267550.2(TTN):c.1863A>C (p.Lys621Asn)	TTN (K575N +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2584584	NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr)	TTN (D3688Y +4 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2584564	NM_001267550.2(TTN):c.43156G>A (p.Gly14386Arg)	TTN (G11818R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2584559	NM_001267550.2(TTN):c.40761_40766del (p.Glu13588_Pro13589del)	TTN	Deletion (inframe_deletion)	Dilated cardiomyopathy 1G +1 more	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 2577000	NM_001267550.2(TTN):c.11312-4027del	TTN	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 9	Gno classifications from unflagged records
Select item 2505347	NM_001267550.2(TTN):c.46945T>G (p.Phe15649Val)	TTN, TTN-AS1 (F13081V +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9	GUncertain significance
Select item 2502265	NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile)	TTN (T5308I +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502240	NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu)	TTN (K10441E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502234	NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys)	TTN (E10776K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502233	NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala)	TTN, TTN-AS1 (V17700A +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502232	NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr)	TTN (A12830T)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502215	NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile)	TTN (T8518I +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502214	NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys)	TTN (E12117K +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502203	NM_001267550.2(TTN):c.89136C>A (p.Asn29712Lys)	TTN, TTN-AS1 (N20647K +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502202	NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr)	TTN, TTN-AS1 (K15346T +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502194	NM_001267550.2(TTN):c.19993+6C>T	LOC126806429, TTN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502184	NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala)	TTN (S7641A +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502157	NM_001267550.2(TTN):c.628A>G (p.Thr210Ala)	TTN (T210A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 2502153	NM_001267550.2(TTN):c.52405+4A>G	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 9 +1 more	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 2438340	NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile)	TTN, TTN-AS1 (V20618I +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +2 more	GUncertain significance
Select item 2437506	NM_001267550.2(TTN):c.71266G>A (p.Gly23756Ser)	TTN, TTN-AS1 (G14691S +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1988966	NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs)	TTN, TTN-AS1 (K23997fs +5 more)	Deletion (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 1803907	NM_001267550.2(TTN):c.64906G>C (p.Ala21636Pro)	TTN, TTN-AS1 (A12571P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1803859	NM_001267550.2(TTN):c.72988C>T (p.Pro24330Ser)	TTN, TTN-AS1 (P15265S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1803849	NM_001267550.2(TTN):c.23329A>G (p.Thr7777Ala)	TTN (T6533A +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1803847	NM_001267550.2(TTN):c.106572G>T (p.Lys35524Asn)	TTN, TTN-AS1 (K26459N +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1803823	NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp)	LOC126806431, TTN (G4418D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1757982	NM_001267550.2(TTN):c.99865+2T>C	LOC126806420, TTN +1 more	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 9 +1 more	GUncertain significance
Select item 1709040	NM_001267550.2(TTN):c.65106_65107del (p.Asn21702fs)	TTN, TTN-AS1 (N12637fs +5 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 9	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 1683558	NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn)	TTN, TTN-AS1 (K26495N +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +2 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

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