C1837342[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332662	NM_001267550.2(TTN):c.*1015A>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GConflicting classifications of pathogenicity
Select item 332663	NM_001267550.2(TTN):c.*968T>C	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GUncertain significance
Select item 332664	NM_001267550.2(TTN):c.*919G>C	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GUncertain significance
Select item 332665	NM_001267550.2(TTN):c.*913C>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 894547	NM_001267550.2(TTN):c.*898A>C	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GUncertain significance
Select item 332666	NM_001267550.2(TTN):c.*664G>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GBenign/Likely benign
Select item 332667	NM_001267550.2(TTN):c.*636T>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 893121	NM_001267550.2(TTN):c.*633C>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 332668	NM_001267550.2(TTN):c.*623G>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 332669	NM_001267550.2(TTN):c.*587T>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GConflicting classifications of pathogenicity
Select item 894175	NM_001267550.2(TTN):c.*504G>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 332670	NM_001267550.2(TTN):c.*280A>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Tibial muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 332671	NM_001267550.2(TTN):c.*274G>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 332672	NM_001267550.2(TTN):c.*197C>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GUncertain significance
Select item 893373	NM_001267550.2(TTN):c.*183A>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 893374	NM_001267550.2(TTN):c.*141T>G	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GUncertain significance
Select item 332673	NM_001267550.2(TTN):c.*130G>C	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Tibial muscular dystrophy +4 more	GBenign/Likely benign
Select item 332674	NM_001267550.2(TTN):c.*99dup	TTN-AS1, TTN	Duplication (3 prime UTR variant)	Dilated Cardiomyopathy, Dominant +7 more	GBenign/Likely benign
Select item 332675	NM_001267550.2(TTN):c.*59G>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 332676	NM_001267550.2(TTN):c.*25C>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 332677	NM_001267550.2(TTN):c.*6C>A	TTN-AS1, TTN	Single nucleotide variant (3 prime UTR variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 178150	NM_001267550.2(TTN):c.107961T>C (p.His35987=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 46574	NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	TTN-related condition +8 more	GConflicting classifications of pathogenicity
Select item 47723	NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 47722	NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)	TTN, TTN-AS1 (S35869G +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 47720	NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)	TTN, TTN-AS1 (M35859T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +10 more	GConflicting classifications of pathogenicity
Select item 137821	NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 178151	NM_001267550.2(TTN):c.107377+14C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 47718	NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)	TTN-AS1, TTN (V35756A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 894272	NM_001267550.2(TTN):c.107181C>G (p.Gly35727=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 191806	NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)	TTN, TTN-AS1 (E33129Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 238701	NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val)	TTN, TTN-AS1 (L35694V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 332678	NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu)	TTN, TTN-AS1 (Q33098E +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +5 more	GUncertain significance
Select item 282856	NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp)	TTN, TTN-AS1 (Y35653D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GUncertain significance
Select item 47717	NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)	TTN, TTN-AS1 (R35652Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 332679	NM_001267550.2(TTN):c.106926C>T (p.Gly35642=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 47716	NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 178152	NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)	TTN, TTN-AS1 (L33058V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 47714	NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)	TTN, TTN-AS1 (S35613A +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GConflicting classifications of pathogenicity
Select item 179036	NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)	TTN, TTN-AS1 (A33039V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 47712	NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)	TTN, TTN-AS1 (T35596I +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 332680	NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys)	TTN, TTN-AS1 (E33007K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 192135	NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)	TTN, TTN-AS1 (E32991Q +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 47711	NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 47710	NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)	TTN, TTN-AS1 (I35540T +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47709	NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)	TTN, TTN-AS1 (E35527V +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47708	NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47706	NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +9 more	GBenign/Likely benign
Select item 284002	NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)	TTN, TTN-AS1 (K32913R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 191809	NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)	TTN, TTN-AS1 (R32880Q +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 332681	NM_001267550.2(TTN):c.106293T>C (p.Val35431=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 47704	NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 203105	NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe)	TTN, TTN-AS1 (V33782F +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 332682	NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys)	LOC129935182, TTN +1 more (E35356K +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 332683	NM_001267550.2(TTN):c.106020T>C (p.Gly35340=)	LOC129935182, TTN +1 more	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 332684	NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)	LOC129935183, TTN +1 more (E35299D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 47702	NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)	LOC129935183, TTN +1 more (A35263V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47701	NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)	LOC129935183, TTN +1 more (A35263S +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 47700	NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)	LOC129935183, TTN +1 more (P35261L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 2574756	NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)	LOC129935183, TTN +1 more (P26193S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 332685	NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr)	LOC129935183, TTN +1 more (P35258T +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 47699	NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)	LOC129935183, TTN +1 more (E35257K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 286984	NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)	LOC129935183, TTN +1 more (V35253M +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 203100	NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln)	LOC129935183, TTN +1 more (R33611Q +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 894789	NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val)	LOC129935183, TTN +1 more (A32678V +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +4 more	GUncertain significance
Select item 238696	NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr)	LOC129935183, TTN +1 more (I35218T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 47694	NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GBenign
Select item 137820	NM_001267550.2(TTN):c.105570A>G (p.Ser35190=)	LOC129935184, TTN +1 more	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 893625	NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys)	LOC129935184, TTN +1 more (Y26242C +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +5 more	GUncertain significance
Select item 47693	NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)	LOC129935184, TTN +1 more (V35177M +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 894306	NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys)	LOC129935184, TTN +1 more (R26109C +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 203099	NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)	LOC129935184, TTN +1 more (T33530I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 191811	NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys)	TTN, TTN-AS1 (R32596C +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 47691	NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 47690	NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)	TTN, TTN-AS1 (T35139I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 332686	NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp)	TTN, TTN-AS1 (R32568W +5 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 47689	NM_001267550.2(TTN):c.105384A>G (p.Ala35128=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 332687	NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)	TTN, TTN-AS1 (A32560V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GConflicting classifications of pathogenicity
Select item 282416	NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met)	TTN, TTN-AS1 (T33484M +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 892885	NM_001267550.2(TTN):c.105326T>C (p.Leu35109Ser)	TTN, TTN-AS1 (L26044S +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 332688	NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys)	TTN, TTN-AS1 (M35086K +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GUncertain significance
Select item 47687	NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 177968	NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys)	TTN, TTN-AS1 (S32503C +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 47685	NM_001267550.2(TTN):c.105183G>A (p.Ala35061=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GConflicting classifications of pathogenicity
Select item 47684	NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp)	LOC129935185, TTN +1 more (E35060D +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 47683	NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)	TTN, TTN-AS1 (R35043C +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 47681	NM_001267550.2(TTN):c.104988C>T (p.Val34996=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +6 more	GBenign
Select item 698345	NM_001267550.2(TTN):c.104979G>A (p.Thr34993=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 332689	NM_001267550.2(TTN):c.104936G>A (p.Gly34979Asp)	TTN, TTN-AS1 (G32411D +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GUncertain significance
Select item 894000	NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr)	TTN, TTN-AS1 (N26024Y +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 178153	NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)	TTN, TTN-AS1 (E32357A +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 47677	NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 332690	NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu)	TTN, TTN-AS1 (P32296L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 894035	NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro)	TTN, TTN-AS1 (L32289P +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 332691	NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr)	TTN, TTN-AS1 (S32287Y +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GConflicting classifications of pathogenicity
Select item 47674	NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu)	TTN, TTN-AS1 (V34854L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 225104	NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)	TTN, TTN-AS1 (R32273H +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GConflicting classifications of pathogenicity
Select item 47670	NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)	TTN, TTN-AS1 (M34793L +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +9 more	GBenign/Likely benign
Select item 47669	NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)	TTN, TTN-AS1 (E34789K +5 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity

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