C1837342[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 952359	NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe)	TTN, TTN-AS1 (C26718F +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +2 more	GUncertain significance
Select item 1030169	NM_001267550.2(TTN):c.107224-1G>C	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GPathogenic/Likely pathogenic
Select item 567990	NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys)	TTN, TTN-AS1 (E35601K +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +2 more	GUncertain significance
Select item 180582	NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)	LOC129935184, TTN +1 more (S35172del +5 more)	Deletion (inframe_deletion)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 203088	NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met)	TTN, TTN-AS1 (T33352M +5 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 2 +3 more	GConflicting classifications of pathogenicity
Select item 47656	NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)	TTN, TTN-AS1 (K34293E +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 864645	NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His)	TTN, TTN-AS1 (Y24972H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 418978	NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)	TTN, TTN-AS1 (W31888* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 165664	NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)	TTN, TTN-AS1 (V30899G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 466681	NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)	TTN-AS1, TTN (R33466C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2441695	NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)	TTN, TTN-AS1 (I24059T +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 281787	NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)	TTN, TTN-AS1 (S30347G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 282429	NM_001267550.2(TTN):c.97481G>A (p.Arg32494His)	TTN, TTN-AS1 (R29926H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 202495	NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)	TTN, TTN-AS1 (E23411fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +7 more	GPathogenic/Likely pathogenic
Select item 2441755	NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)	TTN, TTN-AS1 (T21959I +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 2441805	NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)	TTN, TTN-AS1 (D21950H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 404725	NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)	TTN, TTN-AS1 (A30741V +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1030165	NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter)	TTN, TTN-AS1 (W21575* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1029101	NM_001267550.2(TTN):c.91564+2T>C	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 47493	NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)	TTN, TTN-AS1 (V29983M +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 238860	NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)	TTN, TTN-AS1 (W29356* +5 more)	Single nucleotide variant (nonsense)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GLikely pathogenic
Select item 2441627	NM_001267550.2(TTN):c.86822-8T>G	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GConflicting classifications of pathogenicity
Select item 467575	NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr)	TTN, TTN-AS1 (K28659T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1029098	NM_001267550.2(TTN):c.85769G>C (p.Arg28590Pro)	TTN, TTN-AS1 (R26949P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 223295	NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)	TTN, TTN-AS1 (R28364* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +8 more	GPathogenic/Likely pathogenic
Select item 47422	NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)	TTN, TTN-AS1 (V27761I +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 202467	NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs)	TTN-AS1, TTN (K15981fs +5 more)	Microsatellite (frameshift variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 2441845	NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)	TTN, TTN-AS1 (H14783Q +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 165861	NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)	LOC126806422, TTN +1 more (I20720M +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 47277	NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	LOC126806422, TTN +1 more (G23274D +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 96298	NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)	TTN, TTN-AS1 (E20374K +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +9 more	GPathogenic/Likely pathogenic
Select item 47251	NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)	LOC126806423, TTN +1 more (K22496R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 165882	NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)	TTN, TTN-AS1 (G19872S +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +8 more	GUncertain significance
Select item 561141	NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp)	TTN, TTN-AS1 (G19571D +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 894738	NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His)	TTN, TTN-AS1 (Y13186H +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 202779	NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)	TTN-AS1, TTN (D19624N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 1028577	NM_001267550.2(TTN):c.63450A>G (p.Gln21150=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GConflicting classifications of pathogenicity
Select item 467358	NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr)	TTN, TTN-AS1 (S21016T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 242424	NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)	TTN, TTN-AS1 (R20908* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 202760	NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln)	TTN-AS1, TTN (P19128Q +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 47126	NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)	TTN, TTN-AS1 (L19196V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 2441741	NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)	TTN, TTN-AS1 (K10056Q +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 47069	NM_001267550.2(TTN):c.53002+10G>A	LOC126806425, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 202706	NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)	LOC126806425, TTN +1 more (A16009T +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GConflicting classifications of pathogenicity
Select item 2441726	NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)	LOC126806425, TTN +1 more (H14997fs +5 more)	Deletion (non-coding transcript variant +1 more)	not provided +6 more	GLikely pathogenic
Select item 332845	NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn)	TTN, TTN-AS1 (K14727N +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 179411	NM_001267550.2(TTN):c.49648+2del	TTN, TTN-AS1	Deletion (splice donor variant)	not provided +10 more	GPathogenic
Select item 451886	NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys)	TTN, TTN-AS1 (E14259K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 195546	NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)	TTN, TTN-AS1 (R15838Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 2582323	NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)	TTN, TTN-AS1	Deletion (non-coding transcript variant +1 more)	Tibial muscular dystrophy +5 more	GLikely pathogenic
Select item 2442111	NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)	TTN (V12841A +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +5 more	GUncertain significance
Select item 202537	NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)	LOC126806427, TTN (R12540fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 561140	NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn)	TTN (K12032N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 535326	NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp)	TTN (E14474D +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +2 more	GUncertain significance
Select item 167788	NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter)	TTN (E11087* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 166093	NM_001267550.2(TTN):c.39044-9T>A	TTN	Single nucleotide variant (intron variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1034240	NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln)	TTN (E11086Q +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GUncertain significance
Select item 2441740	NM_001267550.2(TTN):c.33910+3A>G	TTN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 2441744	NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)	TTN (E10684K +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 893297	NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr)	TTN (P9714T +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 46858	NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)	TTN (P10613A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 497824	NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn)	TTN (K10607N +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GUncertain significance
Select item 202355	NM_001267550.2(TTN):c.29042-2A>C	TTN	Single nucleotide variant (intron variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GConflicting classifications of pathogenicity
Select item 1030139	NM_001267550.2(TTN):c.28132C>T (p.Pro9378Ser)	TTN (P8134S +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 1030138	NM_001267550.2(TTN):c.27602T>C (p.Ile9201Thr)	TTN (I8884T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 203345	NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu)	TTN (K8424E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 561139	NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val)	TTN (I7241V +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 167799	NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)	TTN (W8297C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 1030136	NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn)	TTN (D7749N +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 46717	NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)	TTN (D7768N +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 180079	NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser)	TTN (P6267S +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GUncertain significance
Select item 332917	NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn)	TTN (K6924N +2 more)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 46671	NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)	TTN (E6781K +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 46661	NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser)	LOC126806429, TTN (P6580S +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 137839	NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val)	LOC126806430, TTN (I6321V +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 46648	NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile)	LOC126806430, TTN (V6286I +2 more)	Single nucleotide variant (missense variant +1 more)	Tibial muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 282527	NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)	TTN (R4186* +2 more)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 332929	NM_001267550.2(TTN):c.16060G>C (p.Asp5354His)	TTN (D4110H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 284964	NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter)	TTN (R4064* +2 more)	Single nucleotide variant (nonsense +1 more)	Early-onset myopathy with fatal cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 404903	NM_001267550.2(TTN):c.15496+1G>T	TTN	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GConflicting classifications of pathogenicity
Select item 218569	NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)	TTN (F4938S +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 405160	NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)	TTN (A4846T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 223347	NM_001267550.2(TTN):c.14093-1G>A	TTN	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 1030170	NM_133379.5(TTN):c.15379A>G (p.Thr5127Ala)	TTN (T5127A)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 2441697	NM_001267550.2(TTN):c.11311+1872G>C	TTN (K3716N)	Single nucleotide variant (missense variant +1 more)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 1029073	NM_001267550.2(TTN):c.10255_10256delinsGA (p.Ser3419Asp)	TTN (S3373D +1 more)	Indel (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 809095	NM_001267550.2(TTN):c.9167G>A (p.Arg3056His)	TTN (R3010H +1 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GUncertain significance
Select item 2441737	NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)	TTN (L2718V +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 196801	NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)	TTN (H2508R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 535405	NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp)	LOC126806433, TTN (E2272D +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1028578	NM_001267550.2(TTN):c.5576G>A (p.Arg1859Lys)	TTN (R1859K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J	GUncertain significance
Select item 202501	NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)	LOC101927055, TTN (M1529fs +1 more)	Microsatellite (frameshift variant +1 more)	Primary dilated cardiomyopathy +11 more	GConflicting classifications of pathogenicity
Select item 180003	NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)	TTN (R713* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 642406	NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter)	TTN (W345*)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance

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Items: 96