ClinVar for PubMed (Select 27869827) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075948	NM_001267550.2(TTN):c.86379_86382del (p.Asp28794fs)	TTN, TTN-AS1 (D19729fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 3075832	NM_001267550.2(TTN):c.40791dup (p.Lys13598fs)	TTN (K11030fs +5 more)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	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 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 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 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 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 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 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 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 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 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 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
Select item 2953789	NM_001267550.2(TTN):c.12887C>A (p.Ser4296Ter)	TTN (S3933* +4 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953747	NM_001267550.2(TTN):c.17506dup (p.Gln5836fs)	LOC126806431, TTN (Q5519fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953701	NM_001267550.2(TTN):c.101676dup (p.Glu33893Ter)	TTN, TTN-AS1 (E24953* +5 more)	Duplication (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2953475	NM_001267550.2(TTN):c.21961G>T (p.Glu7321Ter)	TTN (E6077* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2953462	NM_001267550.2(TTN):c.12218_12222dup (p.Val4075fs)	TTN (V3758fs +4 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2953453	NM_001267550.2(TTN):c.105703A>T (p.Lys35235Ter)	LOC129935183, TTN +1 more (K26295* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2953331	NM_001267550.2(TTN):c.105288del (p.Ser35095_Tyr35096insTer)	TTN, TTN-AS1	Deletion (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2953316	NM_001267550.2(TTN):c.24611G>A (p.Trp8204Ter)	TTN (W6960* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2952071	NM_001267550.2(TTN):c.4979T>G (p.Leu1660Ter)	TTN (L1614* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2951136	NM_001267550.2(TTN):c.35321_35322del (p.Pro11774fs)	TTN (P11400fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2950224	NM_001267550.2(TTN):c.6514C>T (p.Gln2172Ter)	TTN (Q2126* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2949907	NM_001267550.2(TTN):c.34379-1G>C	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2949753	NM_001267550.2(TTN):c.105241del (p.Glu35081fs)	TTN, TTN-AS1 (E26016fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2949469	NM_001267550.2(TTN):c.102205C>T (p.Gln34069Ter)	TTN-AS1, TTN (Q25004* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2948172	NM_001267550.2(TTN):c.40437del (p.Lys13479fs)	TTN (K10911fs +2 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2947833	NM_001267550.2(TTN):c.101985dup (p.Thr33996fs)	TTN, TTN-AS1 (T25056fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2947101	NM_001267550.2(TTN):c.39212-1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2947016	NM_001267550.2(TTN):c.102537_102538del (p.Asn34179fs)	TTN, TTN-AS1 (N32538fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2946983	NM_001267550.2(TTN):c.105997_105998del (p.Gln35333fs)	TTN, TTN-AS1 (Q26393fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2946911	NM_001267550.2(TTN):c.103317_103320del (p.Asn34440fs)	TTN, TTN-AS1 (N25375fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2945723	NM_001267550.2(TTN):c.102388_102397del (p.Val34130fs)	TTN, TTN-AS1 (V25065fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2945330	NM_001267550.2(TTN):c.102176_102177del (p.Lys34059fs)	TTN-AS1, TTN (K32418fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2944840	NM_001267550.2(TTN):c.102549C>A (p.Tyr34183Ter)	TTN, TTN-AS1 (Y25310* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2944606	NM_001267550.2(TTN):c.103021G>T (p.Glu34341Ter)	TTN, TTN-AS1 (E25468* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2944288	NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)	TTN, TTN-AS1 (Q25512* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GPathogenic
Select item 2944271	NM_001267550.2(TTN):c.104484_104487dup (p.Ser34830fs)	TTN, TTN-AS1 (S32262fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2944034	NM_001267550.2(TTN):c.100883_100886dup (p.Trp33629fs)	TTN, TTN-AS1 (W31988fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2942928	NM_001267550.2(TTN):c.101757T>G (p.Tyr33919Ter)	TTN, TTN-AS1 (Y31351* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2941951	NM_001267550.2(TTN):c.105898del (p.Ile35300fs)	LOC129935183, TTN +1 more (I26427fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2941865	NM_001267550.2(TTN):c.20836+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2941706	NM_001267550.2(TTN):c.103620T>G (p.Tyr34540Ter)	TTN-AS1, TTN (Y32899* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2941115	NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)	TTN, TTN-AS1 (E25808* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2938185	NM_001267550.2(TTN):c.102526C>T (p.Gln34176Ter)	TTN, TTN-AS1 (Q25111* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2938083	NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)	TTN (S6414* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2937292	NM_001267550.2(TTN):c.45383del (p.Asn15128fs)	LOC126806427, TTN (N6188fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2937194	NM_001267550.2(TTN):c.31762+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2935449	NM_001267550.2(TTN):c.15177_15181delinsAGTACT (p.Asp5059fs)	TTN (D4742fs +2 more)	Indel (frameshift variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2935103	NM_001267550.2(TTN):c.27329-1del	TTN	Deletion (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2935032	NM_001267550.2(TTN):c.29914C>T (p.Arg9972Ter)	TTN (R8728* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2933221	NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)	TTN, TTN-AS1 (E25241* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2930555	NM_001267550.2(TTN):c.29542C>T (p.Arg9848Ter)	TTN (R9531* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2926631	NM_001267550.2(TTN):c.40297+1G>A	TTN	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2926300	NM_001267550.2(TTN):c.105655C>T (p.Gln35219Ter)	LOC129935183, TTN +1 more (Q35219* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2922453	NM_001267550.2(TTN):c.8938_8939insTTGG (p.Ala2980fs)	TTN (A2980fs +1 more)	Insertion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2922306	NM_001267550.2(TTN):c.45459del (p.Arg15154fs)	LOC126806427, TTN (R15154fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2922075	NM_001267550.2(TTN):c.32700dup (p.Glu10901fs)	TTN (E10901fs +2 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921975	NM_001267550.2(TTN):c.39251del (p.Val13084fs)	TTN (V11577fs +2 more)	Deletion (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921937	NM_001267550.2(TTN):c.28049C>A (p.Ser9350Ter)	TTN (S9350* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921897	NM_001267550.2(TTN):c.4293del (p.Met1432fs)	LOC101927055, TTN (M1386fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921676	NM_001267550.2(TTN):c.7332dup (p.Val2445fs)	LOC126806433, TTN (V2445fs +1 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921554	NM_001267550.2(TTN):c.9553G>T (p.Glu3185Ter)	TTN (E3139* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921408	NM_001267550.2(TTN):c.101187T>A (p.Cys33729Ter)	TTN, TTN-AS1 (C24664* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921407	NM_001267550.2(TTN):c.41941dup (p.Ser13981fs)	TTN (S11413fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921387	NM_001267550.2(TTN):c.11880dup (p.Val3961fs)	TTN (V3790fs +4 more)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2921311	NM_001267550.2(TTN):c.41406C>A (p.Cys13802Ter)	TTN (C11234* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2690772	NM_001267550.2(TTN):c.103814dup (p.Met34606fs)	TTN, TTN-AS1 (M25541fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 2684088	NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)	TTN (Q10151* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2672152	NM_001267550.2(TTN):c.29863C>T (p.Arg9955Ter)	TTN (R8711* +2 more)	Single nucleotide variant (nonsense +1 more)	Hypertrophic cardiomyopathy 9 +3 more	GLikely pathogenic
Select item 2635197	NM_001267550.2(TTN):c.106157dup (p.Ser35387fs)	LOC129935182, TTN +1 more (S26322fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 2627911	NM_001267550.2(TTN):c.87077del (p.Pro29026fs)	TTN, TTN-AS1 (P19961fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2572999	NM_001267550.2(TTN):c.84504dup (p.Ser28169fs)	TTN, TTN-AS1 (S19104fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2572995	NM_001267550.2(TTN):c.90495G>A (p.Trp30165Ter)	TTN, TTN-AS1 (W21100* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2445965	NM_001267550.2(TTN):c.39709+1G>A	TTN	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 2438402	NM_001267550.2(TTN):c.19709_19710del (p.Val6570fs)	TTN (V5326fs +2 more)	Microsatellite (frameshift variant +1 more)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 2323782	NM_001267550.2(TTN):c.82888C>T (p.Gln27630Ter)	TTN, TTN-AS1 (Q25989* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 2237754	NM_001267550.2(TTN):c.10131G>A (p.Trp3377Ter)	TTN (W3331* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 2203214	NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)	TTN, TTN-AS1 (Q35660* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2196113	NM_001267550.2(TTN):c.36364+1G>C	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2133539	NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)	LOC129935182, TTN +1 more (Q32829* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2130031	NM_001267550.2(TTN):c.104266A>T (p.Arg34756Ter)	TTN, TTN-AS1 (R25691* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2128683	NM_001267550.2(TTN):c.101458_101459del (p.Met33820fs)	TTN, TTN-AS1 (M24755fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2112078	NM_001267550.2(TTN):c.103644T>G (p.Tyr34548Ter)	TTN, TTN-AS1 (Y31980* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2109386	NM_001267550.2(TTN):c.101793_101794del (p.His33931fs)	TTN, TTN-AS1 (H25058fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2102023	NM_001267550.2(TTN):c.104779A>T (p.Lys34927Ter)	TTN, TTN-AS1 (K33286* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2098183	NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)	TTN, TTN-AS1 (L25772fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GPathogenic
Select item 2084318	NC_000002.11:g.179534118_179534119insAlu	TTN	Insertion	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2057994	NM_001267550.2(TTN):c.104012T>G (p.Leu34671Ter)	TTN, TTN-AS1 (L32103* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2057912	NM_001267550.2(TTN):c.103580_103583dup (p.Glu34528fs)	TTN, TTN-AS1 (E32887fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2051561	NM_001267550.2(TTN):c.104609del (p.Asp34870fs)	TTN, TTN-AS1 (D25930fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2044697	NM_001267550.2(TTN):c.43269del (p.Asp14423fs)	TTN (D12782fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2032826	NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)	LOC129935183, TTN +1 more (W32751* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2026496	NM_001267550.2(TTN):c.101129G>A (p.Trp33710Ter)	TTN, TTN-AS1 (W24645* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2024943	NM_001267550.2(TTN):c.101704G>T (p.Glu33902Ter)	TTN, TTN-AS1 (E31334* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2017193	NM_001267550.2(TTN):c.100906dup (p.Ile33636fs)	TTN, TTN-AS1 (I31995fs +5 more)	Duplication (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2014004	NM_001267550.2(TTN):c.103678A>T (p.Lys34560Ter)	TTN, TTN-AS1 (K32919* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic

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