Related gene-specific medical variations for Gene (Select 7273) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3600296	NM_001267550.2(TTN):c.50228_50229del (p.Val16743fs)	TTN-AS1, TTN (V14175fs +5 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 3585094	NM_001267550.2(TTN):c.914+1G>A	TTN	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 9 +5 more	GLikely pathogenic
Select item 3585093	NM_001267550.2(TTN):c.4157C>T (p.Pro1386Leu)	LOC101927055, TTN (P1340L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585092	NM_001267550.2(TTN):c.8317G>A (p.Asp2773Asn)	TTN (D2773N +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585091	NM_001267550.2(TTN):c.10519C>T (p.Pro3507Ser)	TTN (P3507S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585090	NM_001267550.2(TTN):c.13523A>G (p.Asp4508Gly)	TTN (D4270G +4 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585089	NM_001267550.2(TTN):c.15113T>C (p.Ile5038Thr)	TTN (I3794T +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585088	NM_001267550.2(TTN):c.21941del (p.Gly7314fs)	TTN (G7314fs +2 more)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GLikely pathogenic
Select item 3585086	NM_001267550.2(TTN):c.22114T>C (p.Tyr7372His)	TTN (Y6128H +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585085	NM_001267550.2(TTN):c.24692T>C (p.Leu8231Pro)	TTN (L6987P +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585084	NM_001267550.2(TTN):c.25784A>G (p.Lys8595Arg)	TTN (K7351R +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585083	NM_001267550.2(TTN):c.29041+17_29041+18delinsT	TTN	Indel (intron variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585082	NM_001267550.2(TTN):c.33604_33607del (p.Val11202fs)	TTN (V11202fs +2 more)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585081	NM_001267550.2(TTN):c.34618G>A (p.Glu11540Lys)	TTN (E10239K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585080	NM_001267550.2(TTN):c.35621T>C (p.Leu11874Pro)	TTN (L11874P)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585079	NM_001267550.2(TTN):c.38299C>T (p.Pro12767Ser)	TTN (P12767S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585078	NM_001267550.2(TTN):c.39098C>T (p.Pro13033Leu)	TTN (P10599L +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585077	NM_001267550.2(TTN):c.39502G>A (p.Val13168Met)	TTN (V10734M +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585076	NM_001267550.2(TTN):c.40046T>G (p.Leu13349Arg)	TTN (L13349R)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585075	NM_001267550.2(TTN):c.41065A>T (p.Ile13689Phe)	TTN (I4816F +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585074	NM_001267550.2(TTN):c.41127G>A (p.Leu13709=)	TTN	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585073	NM_001267550.2(TTN):c.42134C>T (p.Ala14045Val)	TTN (A12404V +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585072	NM_001267550.2(TTN):c.46025C>T (p.Pro15342Leu)	TTN (P13701L +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585071	NM_001267550.2(TTN):c.50203G>A (p.Asp16735Asn)	TTN, TTN-AS1 (D14167N +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585070	NM_001267550.2(TTN):c.63822A>G (p.Lys21274=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585069	NM_001267550.2(TTN):c.63863C>A (p.Ala21288Asp)	TTN, TTN-AS1 (A12348D +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585068	NM_001267550.2(TTN):c.83497G>C (p.Gly27833Arg)	TTN, TTN-AS1 (G18768R +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585067	NM_001267550.2(TTN):c.84335C>G (p.Thr28112Arg)	TTN-AS1, TTN (T19239R +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585066	NM_001267550.2(TTN):c.85327G>A (p.Val28443Ile)	TTN, TTN-AS1 (V19378I +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585065	NM_001267550.2(TTN):c.86248G>A (p.Glu28750Lys)	TTN, TTN-AS1 (E27109K +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585064	NM_001267550.2(TTN):c.86585_86589dup (p.Leu28864fs)	TTN, TTN-AS1 (L19924fs +5 more)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 9 +5 more	GLikely pathogenic
Select item 3585063	NM_001267550.2(TTN):c.87445G>A (p.Asp29149Asn)	TTN-AS1, TTN (D29149N +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585062	NM_001267550.2(TTN):c.87564_87606del (p.Ser29189fs)	TTN, TTN-AS1 (S20124fs +5 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 9 +5 more	GLikely pathogenic
Select item 3585061	NM_001267550.2(TTN):c.89458G>A (p.Glu29820Lys)	TTN, TTN-AS1 (E27252K +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585060	NM_001267550.2(TTN):c.89857C>T (p.Leu29953Phe)	TTN, TTN-AS1 (L21080F +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585059	NM_001267550.2(TTN):c.91153A>G (p.Arg30385Gly)	TTN-AS1, TTN (R27817G +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585058	NM_001267550.2(TTN):c.92871T>G (p.Ala30957=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585057	NM_001267550.2(TTN):c.96563G>A (p.Gly32188Glu)	LOC126806421, TTN +1 more (G23248E +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3585056	NM_001267550.2(TTN):c.102269A>G (p.His34090Arg)	TTN, TTN-AS1 (H31522R +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +5 more	GUncertain significance
Select item 3573887	NM_001267550.2(TTN):c.70706T>C (p.Ile23569Thr)	TTN, TTN-AS1 (I14504T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573776	NM_001267550.2(TTN):c.56852C>A (p.Thr18951Asn)	TTN, TTN-AS1 (T10011N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573750	NM_001267550.2(TTN):c.54958A>G (p.Lys18320Glu)	TTN, TTN-AS1 (K15752E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573709	NM_001267550.2(TTN):c.17023A>G (p.Thr5675Ala)	LOC126806431, TTN (T4431A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3573708	NM_001267550.2(TTN):c.71943G>T (p.Glu23981Asp)	TTN, TTN-AS1 (E14916D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573608	NM_001267550.2(TTN):c.49618A>G (p.Thr16540Ala)	TTN, TTN-AS1 (T13972A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3573567	NM_001267550.2(TTN):c.18787C>T (p.Pro6263Ser)	LOC126806430, TTN (P5019S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3573551	NM_001267550.2(TTN):c.69125G>A (p.Gly23042Asp)	TTN, TTN-AS1 (G13977D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3572811	NM_001267550.2(TTN):c.73163G>A (p.Gly24388Asp)	TTN, TTN-AS1 (G15515D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3572697	NM_001267550.2(TTN):c.82678G>A (p.Val27560Ile)	TTN, TTN-AS1 (V18495I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3572528	NM_001267550.2(TTN):c.75413A>G (p.Lys25138Arg)	TTN, TTN-AS1 (K16073R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3572468	NM_001267550.2(TTN):c.82336G>A (p.Ala27446Thr)	TTN, TTN-AS1 (A18506T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571907	NM_001267550.2(TTN):c.94009G>A (p.Gly31337Arg)	TTN, TTN-AS1 (G22464R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571906	NM_001267550.2(TTN):c.22876A>C (p.Ile7626Leu)	TTN (I6382L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3571877	NM_001267550.2(TTN):c.78511G>A (p.Ala26171Thr)	TTN, TTN-AS1 (A17106T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571854	NM_001267550.2(TTN):c.78875G>A (p.Gly26292Glu)	TTN, TTN-AS1 (G23724E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571838	NM_001267550.2(TTN):c.54079A>G (p.Lys18027Glu)	TTN, TTN-AS1 (K16386E +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3571789	NM_001267550.2(TTN):c.63191C>T (p.Pro21064Leu)	TTN, TTN-AS1 (P11999L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571788	NM_001267550.2(TTN):c.3874G>A (p.Gly1292Arg)	LOC101927055, TTN (G1246R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571783	NM_001267550.2(TTN):c.97117G>T (p.Asp32373Tyr)	TTN, TTN-AS1 (D23433Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571782	NM_001267550.2(TTN):c.21740T>C (p.Ile7247Thr)	TTN (I6003T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3571731	NM_001267550.2(TTN):c.99090T>C (p.Ile33030=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3571726	NM_001267550.2(TTN):c.19055G>A (p.Arg6352Lys)	TTN (R6352K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3571701	NM_001267550.2(TTN):c.74321C>A (p.Thr24774Lys)	TTN, TTN-AS1 (T22206K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571660	NM_001267550.2(TTN):c.27298G>C (p.Ala9100Pro)	TTN (A9100P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3571637	NM_001267550.2(TTN):c.63105G>A (p.Gln21035=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3571612	NM_001267550.2(TTN):c.5441A>G (p.Gln1814Arg)	TTN (Q1768R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571586	NM_001267550.2(TTN):c.53552T>C (p.Ile17851Thr)	TTN, TTN-AS1 (I16210T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3571585	NM_001267550.2(TTN):c.34879C>T (p.Pro11627Ser)	TTN (P11253S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3571577	NM_001267550.2(TTN):c.38450C>T (p.Ala12817Val)	TTN (A12817V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3571562	NM_001267550.2(TTN):c.37457C>T (p.Pro12486Leu)	TTN (P12486L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3571455	GRCh38/hg38 2q31.2(chr2:178567656-178574328)x1	TTN, TTN-AS1	Copy number loss	Autosomal recessive limb-girdle muscular dystrophy type 2J	GLikely pathogenic
Select item 3556125	NM_001267550.2(TTN):c.30224-8T>A	TTN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 9 +6 more	GUncertain significance
Select item 3544420	NM_001267550.2(TTN):c.98681dup (p.Leu32894fs)	TTN-AS1, TTN (L23829fs +5 more)	Duplication (non-coding transcript variant +1 more)	TTN-related cardiomyopathy	GLikely pathogenic
Select item 3544407	NM_001267550.2(TTN):c.91328G>A (p.Trp30443Ter)	TTN, TTN-AS1 (W21378* +5 more)	Single nucleotide variant (nonsense)	TTN-related cardiomyopathy	GLikely pathogenic
Select item 3544370	NM_001267550.2(TTN):c.29446G>T (p.Gly9816Ter)	TTN (G9816* +2 more)	Single nucleotide variant (nonsense +1 more)	Tibial muscular dystrophy	GLikely pathogenic
Select item 3464268	NM_001267550.2(TTN):c.95526C>G (p.Tyr31842Ter)	TTN, TTN-AS1 (Y22902* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 3464264	NM_001267550.2(TTN):c.45352C>T (p.Leu15118=)	LOC126806427, TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464263	NM_001267550.2(TTN):c.58752T>C (p.Asp19584=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464262	NM_001267550.2(TTN):c.86116C>A (p.Arg28706=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464261	NM_001267550.2(TTN):c.91917G>C (p.Leu30639=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464259	NM_001267550.2(TTN):c.74433T>A (p.Pro24811=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464258	NM_001267550.2(TTN):c.89127T>A (p.Cys29709Ter)	TTN, TTN-AS1 (C28068* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 3464257	NM_001267550.2(TTN):c.94482C>T (p.Ala31494=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464255	NM_001267550.2(TTN):c.107589del (p.Phe35863fs)	TTN, TTN-AS1 (F33295fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3464254	NM_001267550.2(TTN):c.75234_75240delinsTCTTCATTCT (p.Glu25078_Arg25080delinsAspLeuHisSer)	TTN, TTN-AS1	Indel (inframe_indel)	Cardiovascular phenotype	GUncertain significance
Select item 3464253	NM_001267550.2(TTN):c.88116T>C (p.Val29372=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464252	NM_001267550.2(TTN):c.99177A>T (p.Thr33059=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464251	NM_001267550.2(TTN):c.94503_94505del (p.Ile31501del)	TTN, TTN-AS1 (I22561del +5 more)	Deletion	Cardiovascular phenotype	GUncertain significance
Select item 3464250	NM_001267550.2(TTN):c.48334C>T (p.Leu16112=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464249	NM_001267550.2(TTN):c.90825del (p.Cys30276fs)	TTN, TTN-AS1 (C27708fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3464248	NM_001267550.2(TTN):c.105057_105059del (p.Tyr35019_Lys35020delinsTer)	TTN, TTN-AS1	Deletion (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 3464247	NM_001267550.2(TTN):c.99006A>G (p.Pro33002=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3464242	NM_001267550.2(TTN):c.60492A>G (p.Val20164=)	TTN, TTN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3464241	NM_001267550.2(TTN):c.81009C>A (p.Cys27003Ter)	TTN, TTN-AS1 (C18063* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 3464240	NM_001267550.2(TTN):c.90084T>C (p.Ala30028=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464239	NM_001267550.2(TTN):c.68922A>G (p.Lys22974=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464235	NM_001267550.2(TTN):c.68697T>C (p.Cys22899=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464232	NM_001267550.2(TTN):c.77250A>C (p.Arg25750=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464231	NM_001267550.2(TTN):c.61116T>C (p.Pro20372=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3464229	NM_001267550.2(TTN):c.78402T>C (p.Arg26134=)	TTN, TTN-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign

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