"GeneDx"[submitter] AND "TTN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 1262402	NC_000002.12:g.178525940A>G	TTN, TTN-AS1	Single nucleotide variant	not provided	GBenign
Select item 1342798	NC_000002.12:g.178525976A>C	TTN-AS1, TTN	Single nucleotide variant	not provided	GLikely benign
Select item 332666	NM_001267550.2(TTN):c.*664G>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 332669	NM_001267550.2(TTN):c.*587T>A	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 332674	NM_001267550.2(TTN):c.*99dup	TTN-AS1, TTN	Duplication (3 prime UTR variant)	Limb-girdle muscular dystrophy, recessive +7 more	GBenign/Likely benign
Select item 1204371	NM_001267550.2(TTN):c.*99del	TTN, TTN-AS1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1214912	NM_001267550.2(TTN):c.*43C>T	TTN, TTN-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 332677	NM_001267550.2(TTN):c.*6C>A	TTN, TTN-AS1	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)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
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 535484	NM_001267550.2(TTN):c.107881G>A (p.Val35961Ile)	TTN, TTN-AS1 (V35961I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1002869	NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)	TTN, TTN-AS1 (I26892F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 12653	NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)	TTN, TTN-AS1 (L34315P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 203119	NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg)	TTN, TTN-AS1 (L34312R +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +6 more	GUncertain significance
Select item 389846	NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser)	TTN, TTN-AS1 (I34306S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 3340959	NM_001267550.2(TTN):c.107818C>T (p.Gln35940Ter)	TTN, TTN-AS1 (Q26875* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 282175	NM_001267550.2(TTN):c.107800G>T (p.Gly35934Ter)	TTN, TTN-AS1 (G34293* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1306043	NM_001267550.2(TTN):c.107777C>A (p.Pro35926Gln)	TTN, TTN-AS1 (P26861Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203118	NM_001267550.2(TTN):c.107773A>G (p.Thr35925Ala)	TTN-AS1, TTN (T34284A +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 46574	NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 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)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 1007868	NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)	TTN, TTN-AS1 (I26843T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GUncertain significance
Select item 503512	NM_001267550.2(TTN):c.107681-4_107710del	TTN, TTN-AS1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 47723	NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 220650	NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 517949	NM_001267550.2(TTN):c.107681-21_107681-18del	TTN, TTN-AS1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 262345	NM_001267550.2(TTN):c.107681-46T>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 509136	NM_001267550.2(TTN):c.107680+19G>A	TTN, TTN-AS1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 178818	NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg)	TTN, TTN-AS1 (K33318R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 515279	NM_001267550.2(TTN):c.107647T>G (p.Ser35883Ala)	TTN, TTN-AS1 (S34242A +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 597673	NM_001267550.2(TTN):c.107644del (p.Ser35882fs)	TTN, TTN-AS1 (S26817fs +5 more)	Deletion (frameshift variant)	TTN-related disorder +3 more	GLikely pathogenic
Select item 2499944	NM_001267550.2(TTN):c.107641G>T (p.Glu35881Ter)	TTN, TTN-AS1 (E26816* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 202529	NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	TTN, TTN-AS1 (Q34238* +5 more)	Single nucleotide variant (nonsense)	Early-onset myopathy with fatal cardiomyopathy +14 more	GConflicting classifications of pathogenicity
Select item 47722	NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly)	TTN, TTN-AS1 (S35869G +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GConflicting classifications of pathogenicity
Select item 502239	NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys)	TTN, TTN-AS1 (E33297K +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 196725	NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala)	TTN, TTN-AS1 (V35864A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 518510	NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)	TTN, TTN-AS1 (Q26795* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GPathogenic/Likely pathogenic
Select item 47720	NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)	TTN-AS1, TTN (M35859T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 203117	NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)	TTN-AS1, TTN (S34198R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1152336	NM_001267550.2(TTN):c.107451G>A (p.Ser35817=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1311685	NM_001267550.2(TTN):c.107417C>G (p.Thr35806Arg)	TTN, TTN-AS1 (T26741R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137821	NM_001267550.2(TTN):c.107397C>T (p.Ser35799=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 534963	NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala)	TTN, TTN-AS1 (E35796A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 592950	NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala)	TTN, TTN-AS1 (V33227A +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 675456	NM_001267550.2(TTN):c.107377+216C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211354	NM_001267550.2(TTN):c.107377+31T>C	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 178151	NM_001267550.2(TTN):c.107377+14C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 420775	NM_001267550.2(TTN):c.107377+5G>A	TTN-AS1, TTN	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 949939	NM_001267550.2(TTN):c.107377+1G>C	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 196723	NM_001267550.2(TTN):c.107377+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 2684086	NM_001267550.2(TTN):c.107365_107371delinsA (p.Leu35789_Val35791delinsIle)	TTN, TTN-AS1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 382175	NM_001267550.2(TTN):c.107364C>T (p.Ser35788=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GLikely benign
Select item 203116	NM_001267550.2(TTN):c.107357C>T (p.Thr35786Ile)	TTN, TTN-AS1 (T34145I +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 203115	NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)	TTN, TTN-AS1 (R34139H +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +7 more	GConflicting classifications of pathogenicity
Select item 514088	NM_001267550.2(TTN):c.107319A>C (p.Thr35773=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 203114	NM_001267550.2(TTN):c.107302G>A (p.Asp35768Asn)	TTN, TTN-AS1 (D34127N +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 595561	NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg)	TTN, TTN-AS1 (S35767R +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 681818	NM_001267550.2(TTN):c.107289T>C (p.Asn35763=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 640886	NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)	TTN, TTN-AS1 (R34121* +5 more)	Single nucleotide variant (nonsense)	Left ventricular noncompaction cardiomyopathy +3 more	GLikely pathogenic
Select item 47718	NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala)	TTN, TTN-AS1 (V35756A +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 196724	NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys)	TTN, TTN-AS1 (R35752C +5 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 191804	NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val)	TTN, TTN-AS1 (I33176V +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 817381	NM_001267550.2(TTN):c.107202_107203del (p.Trp35735fs)	TTN, TTN-AS1 (W26670fs +5 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 203113	NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys)	TTN, TTN-AS1 (E34093K +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 202341	NM_001267550.2(TTN):c.107161T>C (p.Phe35721Leu)	TTN, TTN-AS1 (F34080L +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 179558	NM_001267550.2(TTN):c.107134A>C (p.Asn35712His)	TTN, TTN-AS1 (N33144H +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 203112	NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)	TTN, TTN-AS1 (P34061L +5 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 512258	NM_001267550.2(TTN):c.107097A>C (p.Ser35699=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 203111	NM_001267550.2(TTN):c.107093T>C (p.Leu35698Pro)	TTN, TTN-AS1 (L34057P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511884	NM_001267550.2(TTN):c.107092C>T (p.Leu35698Phe)	TTN, TTN-AS1 (L34057F +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 191806	NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)	TTN, TTN-AS1 (E33129Q +5 more)	Single nucleotide variant (missense variant)	not provided +7 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)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 203110	NM_001267550.2(TTN):c.106994A>G (p.Lys35665Arg)	TTN, TTN-AS1 (K34024R +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 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)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 3075912	NM_001267550.2(TTN):c.106953C>G (p.Tyr35651Ter)	TTN, TTN-AS1 (Y26586* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +1 more	GLikely pathogenic
Select item 203108	NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile)	TTN, TTN-AS1 (V34002I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 47716	NM_001267550.2(TTN):c.106920G>A (p.Leu35640=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	not provided +3 more	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 47714	NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)	TTN, TTN-AS1 (S35613A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 1020183	NM_001267550.2(TTN):c.106831G>C (p.Ala35611Pro)	TTN, TTN-AS1 (A26546P +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 178920	NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)	TTN, TTN-AS1 (I33041M +5 more)	Single nucleotide variant (missense variant)	not provided +3 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)	Dilated cardiomyopathy 1G +8 more	GConflicting classifications of pathogenicity
Select item 47713	NM_001267550.2(TTN):c.106788A>T (p.Thr35596=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign/Likely benign
Select item 47712	NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)	TTN, TTN-AS1 (T35596I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +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)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 203107	NM_001267550.2(TTN):c.106668A>C (p.Lys35556Asn)	TTN, TTN-AS1 (K33915N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 47711	NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)	TTN-AS1, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +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)	Early-onset myopathy with fatal cardiomyopathy +7 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)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 2136047	NM_001267550.2(TTN):c.106546G>T (p.Glu35516Ter)	TTN, TTN-AS1 (E26576* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 571911	NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)	TTN, TTN-AS1 (K35513E +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 668701	NM_001267550.2(TTN):c.106532-19del	TTN, TTN-AS1	Deletion (intron variant)	not provided +2 more	GLikely benign
Select item 672855	NM_001267550.2(TTN):c.106532-266C>T	TTN, TTN-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 535557	NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr)	TTN, TTN-AS1 (S35504T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 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)	Cardiovascular phenotype +9 more	GBenign/Likely benign

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