ClinVar for MedGen (Select 347714) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363100	NM_001267550.2(TTN):c.60709C>T (p.Gln20237Ter)	TTN, TTN-AS1 (Q11172* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363099	NM_001267550.2(TTN):c.60654del (p.Trp20219fs)	TTN, TTN-AS1 (W11154fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363098	NM_001267550.2(TTN):c.60264del (p.Val20089fs)	TTN, TTN-AS1 (V11024fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363097	NM_001267550.2(TTN):c.60098T>G (p.Leu20033Ter)	LOC126806424, TTN +1 more (L10968* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363096	NM_001267550.2(TTN):c.59254dup (p.Thr19752fs)	TTN, TTN-AS1 (T10687fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363095	NM_001267550.2(TTN):c.5878G>T (p.Glu1960Ter)	TTN (E1914* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363094	NM_001267550.2(TTN):c.57519_57520del (p.Lys19174fs)	TTN, TTN-AS1 (K10109fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363093	NM_001267550.2(TTN):c.56560G>T (p.Glu18854Ter)	TTN, TTN-AS1 (E16286* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363092	NM_001267550.2(TTN):c.56190dup (p.Pro18731fs)	TTN, TTN-AS1 (P16163fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363091	NM_001267550.2(TTN):c.56064del (p.Ile18688fs)	TTN, TTN-AS1 (I16120fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363090	NM_001267550.2(TTN):c.55202dup (p.Ile18402fs)	TTN, TTN-AS1 (I15834fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363089	NM_001267550.2(TTN):c.3800T>A (p.Leu1267Ter)	LOC101927055, TTN (L1221* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363088	NM_001267550.2(TTN):c.54118_54137del (p.Lys18040fs)	TTN, TTN-AS1 (K15472fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363087	NM_001267550.2(TTN):c.53922del (p.Asp17974fs)	TTN, TTN-AS1 (D15406fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363086	NM_001267550.2(TTN):c.52712_52713del (p.Pro17571fs)	LOC126806425, TTN +1 more (P15003fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363085	NM_001267550.2(TTN):c.52525del (p.Arg17509fs)	LOC126806425, TTN +1 more (R14941fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363084	NM_001267550.2(TTN):c.52330del (p.Arg17444fs)	TTN, TTN-AS1 (R14876fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363083	NM_001267550.2(TTN):c.51318G>A (p.Trp17106Ter)	TTN, TTN-AS1 (W14538* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363082	NM_001267550.2(TTN):c.50983_50986dup (p.Lys16996delinsSerTer)	TTN, TTN-AS1	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363081	NM_001267550.2(TTN):c.3523+1_3523+5delinsCAGGAAC	TTN	Indel (splice donor variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363080	NM_001267550.2(TTN):c.49608_49609dup (p.Ser16537fs)	TTN, TTN-AS1 (S13969fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363079	NM_001267550.2(TTN):c.49548dup (p.Asn16517Ter)	TTN, TTN-AS1 (N13949* +5 more)	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363078	NM_001267550.2(TTN):c.49532+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363077	NM_001267550.2(TTN):c.49157_49158insACCACAAACTA (p.Tyr16386Ter)	LOC126806426, TTN +1 more (Y13818* +5 more)	Insertion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363076	NM_001267550.2(TTN):c.48661G>T (p.Glu16221Ter)	LOC126806426, TTN +1 more (E13653* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363075	NM_001267550.2(TTN):c.48400A>T (p.Lys16134Ter)	TTN, TTN-AS1 (K13566* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363074	NM_001267550.2(TTN):c.48313-2A>G	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363073	NM_001267550.2(TTN):c.47337G>A (p.Trp15779Ter)	TTN, TTN-AS1 (W13211* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363072	NM_001267550.2(TTN):c.46637del (p.Gln15546fs)	TTN, TTN-AS1 (Q12978fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363071	NM_001267550.2(TTN):c.45970A>T (p.Lys15324Ter)	TTN (K12756* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363070	NM_001267550.2(TTN):c.46304+2T>G	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363069	NM_001267550.2(TTN):c.46048A>T (p.Arg15350Ter)	TTN (R12782* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363068	NM_001267550.2(TTN):c.44508del (p.Ala14837fs)	TTN (A12269fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363067	NM_001267550.2(TTN):c.44281+5G>C	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363066	NM_001267550.2(TTN):c.44281+2_44281+3insTT	TTN	Insertion (splice donor variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363065	NM_001267550.2(TTN):c.2371-6A>G	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363064	NM_001267550.2(TTN):c.43633C>T (p.Gln14545Ter)	TTN (Q11977* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363063	NM_001267550.2(TTN):c.42268del (p.Asp14090fs)	TTN (D11522fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363062	NM_001267550.2(TTN):c.42667C>T (p.Gln14223Ter)	TTN (Q11655* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363061	NM_001267550.2(TTN):c.42388A>T (p.Lys14130Ter)	TTN (K11562* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363060	NM_001267550.2(TTN):c.42281C>A (p.Ser14094Ter)	TTN (S11526* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363059	NM_001267550.2(TTN):c.42145_42149del (p.Val14049fs)	TTN (V11481fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363058	NM_001267550.2(TTN):c.69412+5G>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363057	NM_001267550.2(TTN):c.53003-36_53045del	LOC126806425, TTN +1 more	Deletion (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363056	NM_001267550.2(TTN):c.40786+1G>T	TTN	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363055	NM_001267550.2(TTN):c.87119-1G>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363054	NM_001267550.2(TTN):c.86822-1G>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363053	NM_001267550.2(TTN):c.67636+1G>A	LOC126806423, TTN +1 more	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363052	NM_001267550.2(TTN):c.60220+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363051	NM_001267550.2(TTN):c.42024+4A>G	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363050	NM_001267550.2(TTN):c.53881+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363049	NM_001267550.2(TTN):c.51436+1del	TTN, TTN-AS1	Deletion (splice donor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363048	NM_001267550.2(TTN):c.48161-1G>A	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363047	NM_001267550.2(TTN):c.24505+5G>T	TTN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363046	NM_001267550.2(TTN):c.6509-1G>A	TTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G	GUncertain significance
Select item 3363045	NM_001267550.2(TTN):c.41882dup (p.Glu13962fs)	TTN (E11394fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363044	NM_001267550.2(TTN):c.106864C>T (p.Gln35622Ter)	TTN, TTN-AS1 (Q26557* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363043	NM_001267550.2(TTN):c.106181_106185del (p.Lys35394fs)	LOC129935182, TTN +1 more (K26521fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363042	NM_001267550.2(TTN):c.105474_105477del (p.Pro35158_Thr35159insTer)	TTN, TTN-AS1	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363041	NM_001267550.2(TTN):c.103840C>T (p.Gln34614Ter)	TTN, TTN-AS1 (Q25549* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363040	NM_001267550.2(TTN):c.103048_103058del (p.Val34350fs)	TTN, TTN-AS1 (V25285fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363039	NM_001267550.2(TTN):c.102586del (p.Val34196fs)	TTN, TTN-AS1 (V25131fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363038	NM_001267550.2(TTN):c.102090del (p.Glu34031fs)	TTN, TTN-AS1 (E24966fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363037	NM_001267550.2(TTN):c.101854del (p.Ser33952fs)	TTN, TTN-AS1 (S24887fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363036	NM_001267550.2(TTN):c.100389C>A (p.Tyr33463Ter)	TTN, TTN-AS1 (Y24398* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GPathogenic
Select item 3363035	NM_001267550.2(TTN):c.100030del (p.Ser33344fs)	LOC126806420, TTN +1 more (S24279fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363034	NM_001267550.2(TTN):c.99862C>T (p.Gln33288Ter)	LOC126806420, TTN +1 more (Q24223* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363033	NM_001267550.2(TTN):c.99578dup (p.Pro33194fs)	TTN, TTN-AS1 (P24129fs +5 more)	Duplication (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363032	NM_001267550.2(TTN):c.99323_99326del (p.Lys33108fs)	TTN, TTN-AS1 (K24043fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363031	NM_001267550.2(TTN):c.99085G>T (p.Glu33029Ter)	TTN, TTN-AS1 (E23964* +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363030	NM_001267550.2(TTN):c.98666del (p.Thr32889fs)	TTN, TTN-AS1 (T23824fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363029	NM_001267550.2(TTN):c.40483_40484delinsTA (p.Gly13495Ter)	TTN (G10927* +5 more)	Indel (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363028	NM_001267550.2(TTN):c.98303del (p.Gly32768fs)	TTN, TTN-AS1 (G23703fs +5 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363027	NM_001267550.2(TTN):c.97474G>T (p.Glu32492Ter)	TTN, TTN-AS1 (E23427* +5 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363026	NM_001267550.2(TTN):c.97287del (p.Ala32430fs)	TTN, TTN-AS1 (A23365fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363025	NM_001267550.2(TTN):c.97282_97294del (p.Asp32427_Gly32428insTer)	TTN, TTN-AS1	Deletion (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363024	NM_001267550.2(TTN):c.35044G>T (p.Glu11682Ter)	TTN (E10381* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363023	NM_001267550.2(TTN):c.97148dup (p.Asn32383fs)	TTN, TTN-AS1 (N23318fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363022	NM_001267550.2(TTN):c.96675_96676delinsG (p.Pro32226fs)	LOC126806421, TTN +1 more (P23161fs +5 more)	Indel (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363021	NM_001267550.2(TTN):c.95833del (p.Val31945fs)	TTN, TTN-AS1 (V22880fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363020	NM_001267550.2(TTN):c.95358_95361del (p.Lys31787fs)	TTN, TTN-AS1 (K22722fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363019	NM_001267550.2(TTN):c.95232del (p.Ile31744fs)	TTN, TTN-AS1 (I22679fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363018	NM_001267550.2(TTN):c.94394_94397delinsTA (p.Glu31465fs)	TTN, TTN-AS1 (E22400fs +5 more)	Indel (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363017	NM_001267550.2(TTN):c.94108del (p.Val31370fs)	TTN, TTN-AS1 (V22305fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363016	NM_001267550.2(TTN):c.94099C>T (p.Gln31367Ter)	TTN, TTN-AS1 (Q22302* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363015	NM_001267550.2(TTN):c.93850G>T (p.Gly31284Ter)	TTN, TTN-AS1 (G22219* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363014	NM_001267550.2(TTN):c.92883del (p.Lys30961fs)	TTN, TTN-AS1 (K21896fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363013	NM_001267550.2(TTN):c.92278del (p.Glu30760fs)	TTN, TTN-AS1 (E21695fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363012	NM_001267550.2(TTN):c.91932dup (p.Leu30645fs)	TTN, TTN-AS1 (L21580fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363011	NM_001267550.2(TTN):c.91222_91231del (p.Ser30408fs)	TTN, TTN-AS1 (S21343fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363010	NM_001267550.2(TTN):c.29437_29440del (p.Lys9813fs)	TTN (K8569fs +2 more)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363009	NM_001267550.2(TTN):c.89730T>A (p.Tyr29910Ter)	TTN, TTN-AS1 (Y20845* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363008	NM_001267550.2(TTN):c.89054_89069del (p.Lys29685fs)	TTN, TTN-AS1 (K20620fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363007	NM_001267550.2(TTN):c.89118_89119del (p.Tyr29706_Arg29707delinsTer)	TTN, TTN-AS1	Deletion (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363006	NM_001267550.2(TTN):c.88688del (p.Gly29563fs)	TTN, TTN-AS1 (G20498fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363005	NM_001267550.2(TTN):c.87757del (p.Ser29253fs)	TTN, TTN-AS1 (S20188fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363004	NM_001267550.2(TTN):c.87567_87570delinsCAC (p.Ala29190fs)	TTN, TTN-AS1 (A20125fs +5 more)	Indel (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363003	NM_001267550.2(TTN):c.26629A>T (p.Lys8877Ter)	TTN (K7633* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363002	NM_001267550.2(TTN):c.87555G>A (p.Trp29185Ter)	TTN, TTN-AS1 (W20120* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3363001	NM_001267550.2(TTN):c.87531_87532del (p.Glu29179fs)	TTN, TTN-AS1 (E20114fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic

<< First< Prev

Page of 10