TTN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1615541	NM_001267550.2(TTN):c.46299C>G (p.Gly15433=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1156521	NM_001267550.2(TTN):c.46299C>A (p.Gly15433=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 4080897	NM_001267550.2(TTN):c.46297G>A (p.Gly15433Ser)	TTN (G12865S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 655302	NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter)	TTN (E12861* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1591898	NM_001267550.2(TTN):c.46282A>C (p.Arg15428=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 808999	NM_001267550.2(TTN):c.46281G>A (p.Gly15427=)	TTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4784553	NM_001267550.2(TTN):c.46278T>C (p.Asn15426=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2437845	NM_001267550.2(TTN):c.46276A>T (p.Asn15426Tyr)	TTN (N12858Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 535727	NM_001267550.2(TTN):c.46273A>C (p.Arg15425=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 842206	NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter)	TTN (Y12856* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 3759910	NM_001267550.2(TTN):c.46269G>A (p.Trp15423Ter)	TTN (W12855* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 3907049	NM_001267550.2(TTN):c.46267T>C (p.Trp15423Arg)	TTN (W12855R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1620063	NM_001267550.2(TTN):c.46263A>T (p.Val15421=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2939992	NM_001267550.2(TTN):c.46260T>C (p.Asn15420=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 202445	NM_001267550.2(TTN):c.46251_46252del (p.Lys15418fs)	TTN (K12850fs +5 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3760295	NM_001267550.2(TTN):c.46245del (p.Arg15416fs)	TTN (R12848fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2196198	NM_001267550.2(TTN):c.46242C>A (p.Leu15414=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 2011785	NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)	TTN (Q15413* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2586551	NM_001267550.2(TTN):c.46236C>T (p.Cys15412=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 223308	NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter)	TTN (C12844* +5 more)	Single nucleotide variant (nonsense)	TTN-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2437968	NM_001267550.2(TTN):c.46235G>A (p.Cys15412Tyr)	TTN (C12844Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1782339	NM_001267550.2(TTN):c.46232_46234del (p.Ser15411del)	TTN (S12843del +5 more)	Deletion (inframe_deletion)	Cardiovascular phenotype	GUncertain significance
Select item 2442111	NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)	TTN (V12841A +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 1782337	NM_001267550.2(TTN):c.46225G>A (p.Val15409Ile)	TTN (V12841I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 180568	NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr)	TTN (A15408T +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 592898	NM_001267550.2(TTN):c.46221C>T (p.Asp15407=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1594909	NM_001267550.2(TTN):c.46218T>C (p.Asp15406=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2505316	NM_001267550.2(TTN):c.46216G>A (p.Asp15406Asn)	TTN (D12838N +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3754395	NM_001267550.2(TTN):c.46214dup (p.Asp15406fs)	TTN (D12838fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 697043	NM_001267550.2(TTN):c.46215C>T (p.Phe15405=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 238785	NM_001267550.2(TTN):c.46211A>G (p.Glu15404Gly)	TTN (E15404G +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3756131	NM_001267550.2(TTN):c.46208_46209del (p.Thr15403fs)	TTN (T12835fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 282279	NM_001267550.2(TTN):c.46208C>T (p.Thr15403Ile)	TTN (T13762I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015335	NM_001267550.2(TTN):c.46206C>T (p.Val15402=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 952503	NM_001267550.2(TTN):c.46205T>C (p.Val15402Ala)	TTN (V15402A +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2032335	NM_001267550.2(TTN):c.46201_46204del (p.Thr15401fs)	TTN (T15401fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2935463	NM_001267550.2(TTN):c.46200G>A (p.Gln15400=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2939771	NM_001267550.2(TTN):c.46197_46198insGAACCCTT (p.Gln15400fs)	TTN (Q6460fs +5 more)	Insertion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 2940335	NM_001267550.2(TTN):c.46188C>T (p.His15396=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2566408	NM_001267550.2(TTN):c.46182G>A (p.Val15394=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 894792	NM_001267550.2(TTN):c.46172C>T (p.Thr15391Ile)	TTN (T12823I +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GUncertain significance
Select item 698642	NM_001267550.2(TTN):c.46170G>A (p.Pro15390=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GLikely benign
Select item 467172	NM_001267550.2(TTN):c.46169C>T (p.Pro15390Leu)	TTN (P15390L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 742674	NM_001267550.2(TTN):c.46167C>A (p.Ala15389=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1782169	NM_001267550.2(TTN):c.46166C>T (p.Ala15389Val)	TTN (A6516V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2022527	NM_001267550.2(TTN):c.46164del (p.Ala15389fs)	TTN (A6324fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 46998	NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr)	TTN (I15387T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GUncertain significance
Select item 2438247	NM_001267550.2(TTN):c.46159A>C (p.Ile15387Leu)	TTN (I12819L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3463783	NM_001267550.2(TTN):c.46155C>T (p.Leu15385=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1087367	NM_001267550.2(TTN):c.46155C>A (p.Leu15385=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GConflicting classifications of pathogenicity
Select item 179721	NM_001267550.2(TTN):c.46150C>G (p.Leu15384Val)	TTN (L12816V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 506575	NM_001267550.2(TTN):c.46147G>C (p.Glu15383Gln)	TTN (E13742Q +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1782131	NM_001267550.2(TTN):c.46146T>G (p.Ala15382=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1571988	NM_001267550.2(TTN):c.46146T>C (p.Ala15382=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3337240	NM_001267550.2(TTN):c.46141_46142del (p.Val15381fs)	TTN (V12813fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 413058	NM_001267550.2(TTN):c.46142T>C (p.Val15381Ala)	TTN (V15381A +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GBenign/Likely benign
Select item 4080661	NM_001267550.2(TTN):c.46139C>T (p.Ser15380Phe)	TTN (S12812F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437931	NM_001267550.2(TTN):c.46139C>G (p.Ser15380Cys)	TTN (S12812C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1576261	NM_001267550.2(TTN):c.46134T>C (p.Asp15378=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 4784995	NM_001267550.2(TTN):c.46129C>T (p.Gln15377Ter)	TTN (Q13736* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1085502	NM_001267550.2(TTN):c.46128A>G (p.Gly15376=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 3894831	NM_001267550.2(TTN):c.46123G>A (p.Ala15375Thr)	TTN (A12807T +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2498852	NM_001267550.2(TTN):c.46122T>C (p.Thr15374=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1084268	NM_001267550.2(TTN):c.46095C>T (p.Phe15365=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1100239	NM_001267550.2(TTN):c.46092C>A (p.Gly15364=)	TTN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 179718	NM_003319.4(TTN):c.18883_18897del (p.Ile6295_Gly6299del)	TTN	Deletion (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2J +7 more	GUncertain significance
Select item 1329157	NM_001267550.2(TTN):c.46089_46090del (p.Cys15363fs)	TTN (C12795fs +5 more)	Microsatellite (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 499602	NM_001267550.2(TTN):c.46079T>C (p.Ile15360Thr)	TTN (I12792T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 46997	NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs)	TTN (M6484fs +5 more)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1781986	NM_001267550.2(TTN):c.46068C>T (p.His15356=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3812218	NM_001267550.2(TTN):c.46065G>A (p.Lys15355=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 46995	NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)	TTN (K15355N +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GConflicting classifications of pathogenicity
Select item 263615	NM_001267550.2(TTN):c.46061A>G (p.Tyr15354Cys)	TTN (Y12786C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3369202	NM_001267550.2(TTN):c.46055A>G (p.Asp15352Gly)	TTN (D12784G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009387	NM_001267550.2(TTN):c.46053T>G (p.Val15351=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 4685792	NM_001267550.2(TTN):c.46052T>G (p.Val15351Gly)	TTN (V12783G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363069	NM_001267550.2(TTN):c.46048A>T (p.Arg15350Ter)	TTN (R12782* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 1573663	NM_001267550.2(TTN):c.46047C>T (p.Tyr15349=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1212719	NM_001267550.2(TTN):c.46040T>G (p.Val15347Gly)	TTN (V12779G +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 202648	NM_001267550.2(TTN):c.46037G>A (p.Arg15346His)	TTN (R12778H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 586887	NM_001267550.2(TTN):c.46036C>T (p.Arg15346Cys)	TTN (R15346C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 668154	NM_001267550.2(TTN):c.46035C>T (p.Asn15345=)	TTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2945259	NM_001267550.2(TTN):c.46023G>A (p.Val15341=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 598337	NM_001267550.2(TTN):c.46016AAG[1] (p.Glu15340del)	TTN (E12772del +5 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2944709	NM_001267550.2(TTN):c.46017dup (p.Glu15340fs)	TTN (E6467fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 500916	NM_001267550.2(TTN):c.46011del (p.Asn15337fs)	TTN (N6272fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3340182	NM_001267550.2(TTN):c.46010A>T (p.Asn15337Ile)	TTN (N12769I +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 516819	NM_001267550.2(TTN):c.45994C>T (p.Leu15332=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 746527	NM_001267550.2(TTN):c.45993A>T (p.Thr15331=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 3756206	NM_001267550.2(TTN):c.45991del (p.Thr15331fs)	TTN (T12763fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 504181	NM_001267550.2(TTN):c.45989dup (p.Thr15331fs)	TTN (T12763fs +5 more)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 4786460	NM_001267550.2(TTN):c.45987T>C (p.Asn15329=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 518546	NM_001267550.2(TTN):c.45986A>G (p.Asn15329Ser)	TTN (N15329S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 264134	NM_001267550.2(TTN):c.45980G>A (p.Arg15327His)	TTN (R15327H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 332861	NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)	TTN (R12759C +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 755189	NM_001267550.2(TTN):c.45978T>C (p.Asn15326=)	TTN	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 2443668	NM_001267550.2(TTN):c.45977A>G (p.Asn15326Ser)	TTN (N12758S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304873	NM_001267550.2(TTN):c.45977A>T (p.Asn15326Ile)	TTN (N12758I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4785160	NM_001267550.2(TTN):c.45975G>T (p.Val15325=)	TTN	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign

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