ClinVar for OMIM (Select 604145) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066457	NM_001267550.2(TTN):c.14314dup (p.Cys4772fs)	TTN (C3528fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3066455	NM_001267550.2(TTN):c.5829_5830delinsGT (p.Glu1944Ter)	TTN (E1898* +1 more)	Indel (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3066150	NM_001267550.2(TTN):c.56905del (p.Ala18969fs)	TTN, TTN-AS1 (A10029fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3066104	NM_001267550.2(TTN):c.78685A>T (p.Arg26229Ter)	TTN, TTN-AS1 (R17164* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3065898	NM_001267550.2(TTN):c.99506G>A (p.Gly33169Asp)	TTN, TTN-AS1 (G24104D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3065845	NM_001267550.2(TTN):c.61054G>A (p.Gly20352Arg)	TTN, TTN-AS1 (G11287R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3065350	NM_001267550.2(TTN):c.54613A>G (p.Lys18205Glu)	TTN, TTN-AS1 (K15637E +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3065148	NM_001267550.2(TTN):c.60127G>T (p.Gly20043Ter)	LOC126806424, TTN +1 more (G10978* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3064472	NM_001267550.2(TTN):c.39985C>G (p.Pro13329Ala)	TTN (P13329A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3064431	NM_001267550.2(TTN):c.22870G>T (p.Glu7624Ter)	TTN (E6380* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3064160	NM_001267550.2(TTN):c.84554G>A (p.Arg28185Gln)	TTN, TTN-AS1 (R19120Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3063598	NM_001267550.2(TTN):c.78369_78376dup (p.Glu26126delinsAlaLeuTer)	TTN, TTN-AS1	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3062341	NM_001267550.2(TTN):c.60442dup (p.Glu20148fs)	TTN, TTN-AS1 (E11083fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3027460	NM_001267550.2(TTN):c.56830_56831del (p.Leu18944fs)	TTN, TTN-AS1 (L10004fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3024182	NM_001267550.2(TTN):c.80504del (p.Val26835fs)	TTN, TTN-AS1 (V17770fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2954558	NM_001267550.2(TTN):c.92373T>C (p.Tyr30791=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954554	NM_001267550.2(TTN):c.51436+13A>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954518	NM_001267550.2(TTN):c.50281_50284del (p.Val16761fs)	TTN, TTN-AS1 (V7696fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954510	NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)	LOC101927055, TTN (V1307fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954493	NM_001267550.2(TTN):c.91271-19C>G	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954492	NM_001267550.2(TTN):c.47573-1G>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954472	NM_001267550.2(TTN):c.80253C>A (p.Ala26751=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954453	NM_001267550.2(TTN):c.64972+10T>G	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954451	NM_001267550.2(TTN):c.56963-16T>C	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954450	NM_001267550.2(TTN):c.86433C>T (p.Thr28811=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954443	NM_001267550.2(TTN):c.97011del (p.Ala32338fs)	TTN, TTN-AS1 (A32338fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954419	NM_001267550.2(TTN):c.93033G>A (p.Val31011=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954418	NM_001267550.2(TTN):c.20554+18A>G	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954414	NM_001267550.2(TTN):c.25921+11T>C	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954402	NM_001267550.2(TTN):c.74142T>A (p.Ile24714=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954392	NM_001267550.2(TTN):c.75618G>C (p.Gly25206=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954354	NM_001267550.2(TTN):c.65403T>C (p.Gly21801=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954325	NM_001267550.2(TTN):c.102464A>G (p.Tyr34155Cys)	TTN, TTN-AS1 (Y25090C +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2954323	NM_001267550.2(TTN):c.9309A>T (p.Ile3103=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954321	NM_001267550.2(TTN):c.61323dup (p.Glu20442Ter)	TTN, TTN-AS1 (E17874* +5 more)	Duplication (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954318	NM_001267550.2(TTN):c.75458_75459dup (p.Asn25154fs)	TTN, TTN-AS1 (N22586fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954312	NM_001267550.2(TTN):c.4068A>G (p.Pro1356=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954308	NM_001267550.2(TTN):c.46865del (p.Phe15622fs)	TTN, TTN-AS1 (F6557fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954302	NM_001267550.2(TTN):c.68934dup (p.Ser22979fs)	TTN, TTN-AS1 (S14106fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954278	NM_001267550.2(TTN):c.80205T>C (p.Ser26735=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954277	NM_001267550.2(TTN):c.35123del (p.His11708fs)	TTN (H11708fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954270	NM_001267550.2(TTN):c.106654A>T (p.Met35552Leu)	TTN, TTN-AS1 (M26487L +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2954268	NM_001267550.2(TTN):c.28245C>T (p.Asp9415=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954258	NM_001267550.2(TTN):c.96905-1G>A	LOC126806421, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954252	NM_001267550.2(TTN):c.54856A>T (p.Lys18286Ter)	TTN, TTN-AS1 (K18286* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954246	NM_001267550.2(TTN):c.24219T>A (p.Thr8073=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954245	NM_001267550.2(TTN):c.15366A>G (p.Arg5122=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954235	NM_001267550.2(TTN):c.60729T>C (p.Val20243=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954218	NM_001267550.2(TTN):c.70115del (p.Pro23372fs)	LOC126806422, TTN +1 more (P14307fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954215	NM_001267550.2(TTN):c.71365dup (p.Thr23789fs)	TTN, TTN-AS1 (T14724fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954210	NM_001267550.2(TTN):c.89445_89446del (p.Ala29816fs)	TTN, TTN-AS1 (A20876fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954202	NM_001267550.2(TTN):c.69687A>G (p.Ser23229=)	TTN-AS1, LOC126806422 +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954200	NM_001267550.2(TTN):c.35637G>A (p.Glu11879=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954174	NM_001267550.2(TTN):c.3381-19T>C	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954157	NM_001267550.2(TTN):c.87118+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954151	NM_001267550.2(TTN):c.45616+20T>A	LOC126806427, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954147	NM_001267550.2(TTN):c.51243T>C (p.His17081=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	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 2954124	NM_001267550.2(TTN):c.107361T>C (p.Ala35787=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954119	NM_001267550.2(TTN):c.81629_81632del (p.Lys27210fs)	TTN, TTN-AS1 (K18145fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954109	NM_001267550.2(TTN):c.21357T>C (p.Ala7119=)	LOC126806428, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954092	NM_001267550.2(TTN):c.47988G>A (p.Trp15996Ter)	TTN, TTN-AS1 (W13428* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954091	NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)	TTN (Y4532* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954089	NM_001267550.2(TTN):c.69257del (p.Leu23086fs)	TTN, TTN-AS1 (L14021fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954087	NM_001267550.2(TTN):c.55120_55120+3del	TTN, TTN-AS1	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954085	NM_001267550.2(TTN):c.75898_75901dup (p.Pro25301fs)	TTN, TTN-AS1 (P22733fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954083	NM_001267550.2(TTN):c.78489C>A (p.Val26163=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954082	NM_001267550.2(TTN):c.32470+2T>C	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954078	NM_001267550.2(TTN):c.36003del (p.Phe12001fs)	TTN (F12001fs)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954072	NM_001267550.2(TTN):c.54357C>T (p.Asn18119=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2954070	NM_001267550.2(TTN):c.13817_13818dup (p.Met4607fs)	TTN (M4369fs +4 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954063	NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)	TTN (T13648fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954062	NM_001267550.2(TTN):c.64443dup (p.Lys21482fs)	TTN, TTN-AS1 (K12542fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2954061	NM_001267550.2(TTN):c.54190+1G>T	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GPathogenic
Select item 2954040	NM_001267550.2(TTN):c.64473T>C (p.Tyr21491=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953998	NM_001267550.2(TTN):c.107261G>A (p.Arg35754Lys)	TTN, TTN-AS1 (R26689K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2953977	NM_001267550.2(TTN):c.93693C>T (p.Ser31231=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953972	NM_001267550.2(TTN):c.65955C>A (p.Gly21985=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953965	NM_001267550.2(TTN):c.11265A>G (p.Ser3755=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953963	NM_001267550.2(TTN):c.9630del (p.Arg3211fs)	TTN (R3165fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953962	NM_001267550.2(TTN):c.21307T>C (p.Leu7103=)	LOC126806428, TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953961	NM_001267550.2(TTN):c.21483A>G (p.Arg7161=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953949	NM_001267550.2(TTN):c.66776del (p.Pro22259fs)	TTN, TTN-AS1 (P13319fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953945	NM_001267550.2(TTN):c.94392A>G (p.Leu31464=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953932	NM_001267550.2(TTN):c.46816G>T (p.Glu15606Ter)	TTN, TTN-AS1 (E6733* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953931	NM_001267550.2(TTN):c.25347C>T (p.Leu8449=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953930	NM_001267550.2(TTN):c.80361del (p.Thr26788fs)	TTN-AS1, TTN (T17723fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953921	NM_001267550.2(TTN):c.31833T>C (p.Ala10611=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953914	NM_001267550.2(TTN):c.96789T>A (p.Thr32263=)	LOC126806421, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953909	NM_001267550.2(TTN):c.8938del (p.Ala2980fs)	TTN (A2934fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953893	NM_001267550.2(TTN):c.15218-15T>C	TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953882	NM_001267550.2(TTN):c.21116-6A>C	LOC126806428, TTN	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953868	NM_001267550.2(TTN):c.98989+14A>G	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953861	NM_001267550.2(TTN):c.41937del (p.Glu13980fs)	TTN (E12339fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953859	NM_001267550.2(TTN):c.95368C>G (p.Pro31790Ala)	TTN, TTN-AS1 (P22725A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 2953855	NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)	TTN, TTN-AS1 (Q27148fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953853	NM_001267550.2(TTN):c.54999dup (p.Cys18334fs)	TTN, TTN-AS1 (C9269fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953842	NM_001267550.2(TTN):c.66769+13del	TTN, TTN-AS1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2953827	NM_001267550.2(TTN):c.48605G>A (p.Trp16202Ter)	TTN, TTN-AS1 (W7329* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953811	NM_001267550.2(TTN):c.25219C>T (p.Gln8407Ter)	TTN (Q7163* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic

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