"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TTN-AS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332665	NM_001267550.2(TTN):c.*913C>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 893374	NM_001267550.2(TTN):c.*141T>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 202530	NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter)	TTN, TTN-AS1 (R34348* +5 more)	Single nucleotide variant (nonsense)	Tibial muscular dystrophy +5 more	GUncertain significance
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 1002869	NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)	TTN, TTN-AS1 (I26892F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 203119	NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg)	TTN, TTN-AS1 (L34312R +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 1043872	NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)	TTN, TTN-AS1 (G34292R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 12652	NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)	TTN, TTN-AS1	Indel (missense variant)	Dilated cardiomyopathy 1G +6 more	GPathogenic
Select item 281698	NM_001267550.2(TTN):c.107783T>A (p.Val35928Glu)	TTN-AS1, TTN (V35928E +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 212459	NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys)	TTN, TTN-AS1 (E33342K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1007868	NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)	TTN, TTN-AS1 (I26843T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 220650	NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +8 more	GBenign/Likely 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 518510	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN, TTN-AS1 (Q26795* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GPathogenic/Likely pathogenic
Select item 466768	NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile)	TTN, TTN-AS1 (S35855I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1058998	NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr)	TTN, TTN-AS1 (M26778T +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 281477	NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)	TTN, TTN-AS1 (S35817L +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 501189	NM_001267550.2(TTN):c.107392C>T (p.Pro35798Ser)	TTN, TTN-AS1 (P33230S +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 949939	NM_001267550.2(TTN):c.107377+1G>C	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic/Likely pathogenic
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 382175	NM_001267550.2(TTN):c.107364C>T (p.Ser35788=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 203115	NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)	TTN, TTN-AS1 (R34139H +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 534983	NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser)	TTN, TTN-AS1 (A35764S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 203112	NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)	TTN, TTN-AS1 (P34061L +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 180004	NM_001267550.2(TTN):c.107082G>A (p.Leu35694=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 853395	NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro)	TTN, TTN-AS1 (L26700P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +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 47714	NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)	TTN, TTN-AS1 (S35613A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 1297550	NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu)	TTN, TTN-AS1 (K26545E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1059450	NM_001267550.2(TTN):c.106769A>G (p.His35590Arg)	TTN, TTN-AS1 (H26525R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 223305	NM_001267550.2(TTN):c.106629del (p.Ala35544fs)	TTN, TTN-AS1 (A26479fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 915801	NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)	TTN, TTN-AS1 (E26462V +5 more)	Indel (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 47706	NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 265825	NM_001267550.2(TTN):c.106403T>A (p.Leu35468His)	TTN, TTN-AS1 (L35468H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 586862	NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)	TTN, TTN-AS1 (G35463A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 855722	NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser)	TTN, TTN-AS1 (P35420S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 242430	NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)	LOC129935182, TTN +1 more (K35385T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 503763	NM_001267550.2(TTN):c.106049del (p.Thr35350fs)	LOC129935182, TTN +1 more (T26410fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +6 more	GLikely pathogenic
Select item 466747	NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser)	LOC129935182, TTN +1 more (G35340S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 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 1053440	NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys)	LOC129935183, TTN +1 more (E26203K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 1038527	NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro)	LOC129935183, TTN +1 more (T26342P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 47697	NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln)	LOC129935183, TTN +1 more (K35209Q +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 47695	NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp)	LOC129935183, TTN +1 more (G35197D +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 593024	NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)	TTN, TTN-AS1 (Y32573* +5 more)	Single nucleotide variant (nonsense)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GPathogenic/Likely pathogenic
Select item 47690	NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)	TTN-AS1, TTN (T35139I +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 504393	NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)	TTN, TTN-AS1 (V26191fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +8 more	GLikely pathogenic
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 698363	NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)	LOC129935185, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 203091	NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp)	TTN, TTN-AS1 (L33388W +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 203090	NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met)	TTN-AS1, TTN (T33387M +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder +6 more	GUncertain significance
Select item 954613	NM_001267550.2(TTN):c.105038G>A (p.Arg35013His)	TTN, TTN-AS1 (R25948H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 499402	NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys)	TTN, TTN-AS1 (R32445C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 657566	NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe)	TTN, TTN-AS1 (V26056F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1041524	NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser)	TTN, TTN-AS1 (N32410S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 597865	NM_001267550.2(TTN):c.104912C>T (p.Ala34971Val)	TTN, TTN-AS1 (A32403V +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 284089	NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu)	TTN, TTN-AS1 (V32397L +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 970659	NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)	TTN, TTN-AS1	Indel (inframe_indel)	Dilated cardiomyopathy 1G +5 more	GLikely pathogenic
Select item 196655	NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)	TTN, TTN-AS1 (P34887L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1023057	NM_001267550.2(TTN):c.104648G>A (p.Arg34883His)	TTN, TTN-AS1 (R25818H +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
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 466731	NM_001267550.2(TTN):c.104582G>A (p.Arg34861His)	TTN, TTN-AS1 (R34861H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 466730	NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp)	TTN, TTN-AS1 (R34859W +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 894035	NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro)	TTN, TTN-AS1 (L32289P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 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 1297682	NM_001267550.2(TTN):c.104245C>T (p.Arg34749Trp)	TTN, TTN-AS1 (R25684W +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 180041	NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)	TTN, TTN-AS1 (T32173I +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 290453	NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met)	TTN-AS1, TTN (T32167M +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GUncertain significance
Select item 535524	NM_001267550.2(TTN):c.104194C>G (p.His34732Asp)	TTN, TTN-AS1 (H34732D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 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 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 665303	NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn)	TTN-AS1, TTN (D25729N +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 178832	NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)	TTN, TTN-AS1 (I32099T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 969245	NM_001267550.2(TTN):c.103938_103945delinsCTCTTGGG (p.Tyr34647_Arg34649delinsSerTrpGly)	TTN-AS1, TTN	Indel (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1305444	NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His)	TTN, TTN-AS1 (Y25582H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 178155	NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln)	TTN-AS1, TTN (R32069Q +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 466722	NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys)	TTN, TTN-AS1 (R34636C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 666944	NM_001267550.2(TTN):c.103829G>A (p.Arg34610His)	TTN, TTN-AS1 (R25737H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 497011	NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)	TTN, TTN-AS1 (R32028H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 838285	NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg)	TTN, TTN-AS1 (M25515R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 179636	NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg)	TTN, TTN-AS1 (Q32009R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GUncertain significance
Select item 958305	NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro)	TTN, TTN-AS1 (A25544P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 1055337	NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn)	TTN, TTN-AS1 (D25413N +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 574355	NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg)	TTN, TTN-AS1 (G34406R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 502203	NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro)	TTN, TTN-AS1 (T31825P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 466708	NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys)	TTN, TTN-AS1 (Y34331C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1284364	NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys)	TTN, TTN-AS1 (E25245K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 855721	NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del)	TTN, TTN-AS1 (K25433del +5 more)	Microsatellite (inframe_deletion)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1063286	NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr)	TTN, TTN-AS1 (I25216T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 944134	NM_001267550.2(TTN):c.102284A>C (p.His34095Pro)	TTN, TTN-AS1 (H25155P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1042169	NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu)	TTN, TTN-AS1 (V25140L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 948269	NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro)	TTN, TTN-AS1 (S32424P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 1020625	NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr)	TTN, TTN-AS1 (I24977T +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder +6 more	GUncertain significance
Select item 466698	NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys)	TTN, TTN-AS1 (E34041K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 404785	NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu)	TTN, TTN-AS1 (D34035E +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 535456	NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg)	TTN, TTN-AS1 (S34010R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 332699	NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)	TTN, TTN-AS1 (E33959K +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GUncertain significance
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 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

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