"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178150	NM_001267550.2(TTN):c.107961T>C (p.His35987=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 1077879	NM_001267550.2(TTN):c.107880C>T (p.Asp35960=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 653902	NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)	TTN, TTN-AS1 (F27072I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 46573	NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr)	TTN, TTN-AS1 (C35918Y +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 466770	NM_001267550.2(TTN):c.107724T>C (p.Ile35908=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 915799	NM_001267550.2(TTN):c.107721C>A (p.Ser35907Arg)	TTN-AS1, TTN (S26842R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 47723	NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 978741	NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr)	TTN, TTN-AS1 (I26834T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 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)	Early-onset myopathy with fatal cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 281477	NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)	TTN, TTN-AS1 (S35817L +5 more)	Single nucleotide variant (missense variant)	not provided +8 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)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 203115	NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)	TTN, TTN-AS1 (R34139H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GConflicting classifications of pathogenicity
Select item 2691054	NM_001267550.2(TTN):c.107220G>C (p.Leu35740=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 466763	NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu)	TTN, TTN-AS1 (P35708L +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 595034	NM_001267550.2(TTN):c.107083A>G (p.Ser35695Gly)	TTN, TTN-AS1 (S35695G +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 626639	NM_001267550.2(TTN):c.107004T>A (p.Ser35668Arg)	TTN, TTN-AS1 (S34027R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 915800	NM_001267550.2(TTN):c.106990A>G (p.Ile35664Val)	TTN, TTN-AS1 (I35664V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 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)	Early-onset myopathy with fatal cardiomyopathy +8 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)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GConflicting classifications of pathogenicity
Select item 449137	NM_001267550.2(TTN):c.106914G>C (p.Trp35638Cys)	TTN, TTN-AS1 (W33997C +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GUncertain significance
Select item 2442885	NM_001267550.2(TTN):c.106862G>C (p.Gly35621Ala)	TTN, TTN-AS1 (G26556A +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 47715	NM_001267550.2(TTN):c.106857C>T (p.Asn35619=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 179036	NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)	TTN, TTN-AS1 (A33039V +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +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)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 1698020	NM_001267550.2(TTN):c.106781C>A (p.Thr35594Asn)	TTN, TTN-AS1 (T26529N +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 192135	NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)	TTN, TTN-AS1 (E32991Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +10 more	GConflicting classifications of pathogenicity
Select item 626640	NM_001267550.2(TTN):c.106662G>A (p.Glu35554=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +3 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)	Early-onset myopathy with fatal cardiomyopathy +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)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 915801	NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)	TTN, TTN-AS1 (E26462V +5 more)	Indel (missense variant)	Hypertrophic cardiomyopathy 9 +7 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)	Cardiomyopathy +9 more	GBenign/Likely benign
Select item 229572	NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)	TTN, TTN-AS1 (Y32922H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 284002	NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)	TTN, TTN-AS1 (K32913R +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 466753	NM_001267550.2(TTN):c.106439A>G (p.His35480Arg)	TTN, TTN-AS1 (H35480R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1329104	NM_001267550.2(TTN):c.106374+3A>G	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 915802	NM_001267550.2(TTN):c.106308T>A (p.Val35436=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 915540	NM_001267550.2(TTN):c.106262dup (p.Ile35422fs)	TTN, TTN-AS1 (I26482fs +5 more)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 848708	NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr)	TTN, TTN-AS1 (R26533T +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 229571	NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)	LOC129935182, TTN +1 more (T32799M +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 238697	NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)	LOC129935182, TTN +1 more (N35348K +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 626393	NM_001267550.2(TTN):c.106015del (p.Asp35339fs)	TTN-AS1, LOC129935182 +1 more (D32771fs +5 more)	Deletion (frameshift variant)	TTN-related disorder +3 more	GLikely pathogenic
Select item 203102	NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)	LOC129935183, TTN +1 more (A33673T +5 more)	Single nucleotide variant (missense variant)	not provided +3 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)	Early-onset myopathy with fatal cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 167753	NM_001267550.2(TTN):c.105876G>A (p.Leu35292=)	LOC129935183, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 202340	NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe)	LOC129935183, TTN +1 more (A26198F +4 more)	Indel (missense variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 47702	NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)	LOC129935183, TTN +1 more (A35263V +5 more)	Single nucleotide variant (missense variant)	not provided +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)	Early-onset myopathy with fatal cardiomyopathy +8 more	GBenign/Likely benign
Select item 47693	NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)	LOC129935184, TTN +1 more (V35177M +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 180582	NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)	LOC129935184, TTN +1 more (S35172del +5 more)	Deletion (inframe_deletion)	See cases +8 more	GConflicting classifications of pathogenicity
Select item 203097	NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn)	TTN-AS1, TTN (T33520N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 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)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 2691053	NM_001267550.2(TTN):c.105467C>G (p.Pro35156Arg)	TTN, TTN-AS1 (P26091R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
Select item 669807	NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)	TTN, TTN-AS1 (E26077K +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 497012	NM_001267550.2(TTN):c.105261G>A (p.Thr35087=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 847301	NM_001267550.2(TTN):c.105241G>A (p.Glu35081Lys)	TTN-AS1, TTN (E32513K +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GUncertain significance
Select item 47687	NM_001267550.2(TTN):c.105228G>A (p.Ser35076=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 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)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47683	NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys)	TTN, TTN-AS1 (R35043C +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 286918	NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 262340	NM_001267550.2(TTN):c.104943A>G (p.Glu34981=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 220679	NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)	TTN, TTN-AS1 (G34979A +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 179517	NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)	TTN, TTN-AS1 (E32404K +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 915541	NM_001267550.2(TTN):c.104913C>T (p.Ala34971=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 626394	NM_001267550.2(TTN):c.104860C>G (p.Pro34954Ala)	TTN, TTN-AS1 (P33313A +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 178153	NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala)	TTN, TTN-AS1 (E32357A +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +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 595470	NM_001267550.2(TTN):c.104694A>C (p.Arg34898Ser)	TTN, TTN-AS1 (R32330S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 47675	NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)	TTN, TTN-AS1 (R34859Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 332691	NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr)	TTN, TTN-AS1 (S32287Y +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +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)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 203082	NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)	TTN-AS1, TTN (R33199Q +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1522859	NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp)	TTN, TTN-AS1 (R25775W +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 535030	NM_001267550.2(TTN):c.104515C>T (p.Arg34839Ter)	TTN-AS1, TTN (R34839* +5 more)	Single nucleotide variant (nonsense)	not provided +4 more	GLikely pathogenic
Select item 2437861	NM_001267550.2(TTN):c.104471A>G (p.His34824Arg)	TTN, TTN-AS1 (H25759R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 137819	NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 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)	not specified +9 more	GBenign/Likely benign
Select item 47668	NM_001267550.2(TTN):c.104364C>T (p.Ser34788=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 282653	NM_001267550.2(TTN):c.104347C>T (p.Leu34783Phe)	TTN, TTN-AS1 (L32215F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GBenign/Likely benign
Select item 626395	NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly)	TTN, TTN-AS1 (E33131G +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 264486	NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln)	TTN, TTN-AS1 (R25696Q +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1087696	NM_001267550.2(TTN):c.104262G>A (p.Ala34754=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 179648	NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val)	TTN, TTN-AS1 (A32186V +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 47667	NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)	TTN, TTN-AS1 (A34751P +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 203077	NM_001267550.2(TTN):c.104168G>T (p.Arg34723Ile)	TTN, TTN-AS1 (R33082I +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 466726	NM_001267550.2(TTN):c.104098C>T (p.Pro34700Ser)	TTN, TTN-AS1 (P34700S +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 513046	NM_001267550.2(TTN):c.104049T>C (p.Leu34683=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 178832	NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)	TTN, TTN-AS1 (I32099T +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 47665	NM_001267550.2(TTN):c.103974C>T (p.Ile34658=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47664	NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)	TTN, TTN-AS1 (R34649Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 229567	NM_001267550.2(TTN):c.103859G>A (p.Arg34620His)	TTN, TTN-AS1 (R32052H +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1329230	NM_001267550.2(TTN):c.103845C>G (p.Tyr34615Ter)	TTN, TTN-AS1 (Y25550* +5 more)	Single nucleotide variant (nonsense)	Cardiomyopathy +3 more	GLikely pathogenic
Select item 179636	NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg)	TTN, TTN-AS1 (Q32009R +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GUncertain significance
Select item 47662	NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala)	TTN, TTN-AS1 (V34563A +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +9 more	GConflicting classifications of pathogenicity
Select item 203073	NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg)	TTN, TTN-AS1 (K32919R +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 137818	NM_001267550.2(TTN):c.103524C>T (p.Val34508=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign/Likely benign
Select item 834627	NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp)	TTN, TTN-AS1 (E25545D +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 2442886	NM_001267550.2(TTN):c.103402G>A (p.Glu34468Lys)	TTN, TTN-AS1 (E25403K +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 405147	NM_001267550.2(TTN):c.103364G>A (p.Arg34455His)	TTN, TTN-AS1 (R34455H +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GUncertain significance
Select item 47659	NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys)	TTN, TTN-AS1 (R34455C +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 47658	NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met)	TTN, TTN-AS1 (T34431M +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +8 more	GConflicting classifications of pathogenicity

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