ClinVar for MedGen (Select 324741) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339592	NM_001267550.2(TTN):c.8255_8257delinsGG (p.Lys2752fs)	TTN (K2706fs +1 more)	Indel (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 3338440	GRCh37/hg19 2q31.2(chr2:179448320-179462531)x1	TTN	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 3338082	NM_001267550.2(TTN):c.15541GGA[1] (p.Gly5182del)	TTN (G3938del +2 more)	Microsatellite (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 3338072	NM_001267550.2(TTN):c.36948dup (p.Ala12317fs)	TTN (A12317fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 3247312	NC_000002.11:g.(?_179296804)_(179454920_?)dup	FKBP7, PJVK +3 more	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247311	NC_000002.11:g.(?_179434909)_(179455669_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247310	NC_000002.11:g.(?_179656837)_(179658806_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247309	NC_000002.11:g.(?_179402448)_(179404297_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247308	NC_000002.11:g.(?_179392363)_(179408795_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GPathogenic
Select item 3247307	NC_000002.11:g.(?_179442353)_(179446814_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247306	NC_000002.11:g.(?_179583571)_(179667566_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247305	NC_000002.11:g.(?_179459938)_(179462498_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247303	NC_000002.11:g.(?_179460406)_(179462893_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247302	NC_000002.11:g.(?_179612393)_(179642433_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247301	NC_000002.11:g.(?_179476063)_(179485304_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247300	NC_000002.11:g.(?_179398234)_(179517183_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247299	NC_000002.11:g.(?_179533394)_(179534341_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247298	NC_000002.11:g.(?_179544193)_(179549076_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247297	NC_000002.11:g.(?_179404280)_(179552552_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247296	NC_000002.11:g.(?_179605162)_(179607529_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247295	NC_000002.11:g.(?_179424791)_(179429241_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247294	NC_000002.11:g.(?_179423747)_(179424505_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247292	NC_000002.11:g.(?_179296824)_(179623919_?)dup	FKBP7, PJVK +3 more	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247291	NC_000002.11:g.(?_179623691)_(179639949_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247290	NC_000002.11:g.(?_179485809)_(179486755_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247289	NC_000002.11:g.(?_179296824)_(179502166_?)dup	FKBP7, PJVK +3 more	Duplication	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3247288	NC_000002.11:g.(?_179516160)_(179518254_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247287	NC_000002.11:g.(?_179552818)_(179563661_?)dup	TTN	Duplication	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247286	NC_000002.11:g.(?_179392981)_(179393966_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247285	NC_000002.11:g.(?_179664194)_(179669369_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247284	NC_000002.11:g.(?_179516803)_(179518254_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247283	NC_000002.11:g.(?_179515458)_(179528845_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3247281	NC_000002.11:g.(?_179516591)_(179548829_?)del	TTN	Deletion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3241973	NM_001267550.2(TTN):c.106070_106071del (p.Tyr35357fs)	LOC129935182, TTN +1 more (Y26292fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GPathogenic
Select item 3235041	NM_001267550.2(TTN):c.68555A>T (p.Asn22852Ile)	TTN, TTN-AS1 (N13787I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 3233604	NM_001267550.2(TTN):c.81130C>T (p.Gln27044Ter)	TTN, TTN-AS1 (Q17979* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 3223197	NM_001267550.2(TTN):c.41595C>A (p.Cys13865Ter)	TTN (C11297* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 3066290	GRCh38/hg38 2q31.2(chr2:178655529-178662529)x1	TTN, TTN-AS1	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 2954558	NM_001267550.2(TTN):c.92373T>C (p.Tyr30791=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954554	NM_001267550.2(TTN):c.51436+13A>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954510	NM_001267550.2(TTN):c.4057_4058del (p.Val1353fs)	LOC101927055, TTN (V1307fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954493	NM_001267550.2(TTN):c.91271-19C>G	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954492	NM_001267550.2(TTN):c.47573-1G>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954472	NM_001267550.2(TTN):c.80253C>A (p.Ala26751=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954450	NM_001267550.2(TTN):c.86433C>T (p.Thr28811=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954443	NM_001267550.2(TTN):c.97011del (p.Ala32338fs)	TTN, TTN-AS1 (A32338fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954419	NM_001267550.2(TTN):c.93033G>A (p.Val31011=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954418	NM_001267550.2(TTN):c.20554+18A>G	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954414	NM_001267550.2(TTN):c.25921+11T>C	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954402	NM_001267550.2(TTN):c.74142T>A (p.Ile24714=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954392	NM_001267550.2(TTN):c.75618G>C (p.Gly25206=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2954323	NM_001267550.2(TTN):c.9309A>T (p.Ile3103=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954321	NM_001267550.2(TTN):c.61323dup (p.Glu20442Ter)	TTN, TTN-AS1 (E17874* +5 more)	Duplication (nonsense)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954312	NM_001267550.2(TTN):c.4068A>G (p.Pro1356=)	LOC101927055, TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954308	NM_001267550.2(TTN):c.46865del (p.Phe15622fs)	TTN, TTN-AS1 (F6557fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954302	NM_001267550.2(TTN):c.68934dup (p.Ser22979fs)	TTN, TTN-AS1 (S14106fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954278	NM_001267550.2(TTN):c.80205T>C (p.Ser26735=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954277	NM_001267550.2(TTN):c.35123del (p.His11708fs)	TTN (H11708fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2954268	NM_001267550.2(TTN):c.28245C>T (p.Asp9415=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954246	NM_001267550.2(TTN):c.24219T>A (p.Thr8073=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954245	NM_001267550.2(TTN):c.15366A>G (p.Arg5122=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954235	NM_001267550.2(TTN):c.60729T>C (p.Val20243=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954215	NM_001267550.2(TTN):c.71365dup (p.Thr23789fs)	TTN, TTN-AS1 (T14724fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954202	NM_001267550.2(TTN):c.69687A>G (p.Ser23229=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954200	NM_001267550.2(TTN):c.35637G>A (p.Glu11879=)	TTN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954174	NM_001267550.2(TTN):c.3381-19T>C	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954157	NM_001267550.2(TTN):c.87118+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954151	NM_001267550.2(TTN):c.45616+20T>A	LOC126806427, TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954147	NM_001267550.2(TTN):c.51243T>C (p.His17081=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954124	NM_001267550.2(TTN):c.107361T>C (p.Ala35787=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954091	NM_001267550.2(TTN):c.14310T>A (p.Tyr4770Ter)	TTN (Y4532* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954089	NM_001267550.2(TTN):c.69257del (p.Leu23086fs)	TTN, TTN-AS1 (L14021fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954087	NM_001267550.2(TTN):c.55120_55120+3del	TTN, TTN-AS1	Deletion (splice donor variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954083	NM_001267550.2(TTN):c.78489C>A (p.Val26163=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2954082	NM_001267550.2(TTN):c.32470+2T>C	TTN	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954078	NM_001267550.2(TTN):c.36003del (p.Phe12001fs)	TTN (F12001fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954063	NM_001267550.2(TTN):c.40940dup (p.Thr13648fs)	TTN (T13648fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2954062	NM_001267550.2(TTN):c.64443dup (p.Lys21482fs)	TTN, TTN-AS1 (K12542fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GPathogenic
Select item 2954040	NM_001267550.2(TTN):c.64473T>C (p.Tyr21491=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +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)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2953977	NM_001267550.2(TTN):c.93693C>T (p.Ser31231=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign

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