"Ambry Genetics"[submitter] AND "LOC126806423"[gene] - ClinVar

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422942	NM_001267550.2(TTN):c.68308del (p.Thr22770fs)	LOC126806423, TTN +1 more (T21129fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 413095	NM_001267550.2(TTN):c.68271C>T (p.His22757=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1591504	NM_001267550.2(TTN):c.68262T>C (p.Asp22754=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1737883	NM_001267550.2(TTN):c.68260G>A (p.Asp22754Asn)	LOC126806423, TTN +1 more (D21113N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2923005	NM_001267550.2(TTN):c.68232T>C (p.Pro22744=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 228131	NM_001267550.2(TTN):c.68225-5T>C	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2586528	NM_001267550.2(TTN):c.68224+5G>A	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 264208	NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser)	LOC126806423, TTN +1 more (P13675S +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 47263	NM_001267550.2(TTN):c.68217T>C (p.His22739=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Early-onset myopathy with fatal cardiomyopathy +7 more	GBenign
Select item 413053	NM_001267550.2(TTN):c.68211G>A (p.Ala22737=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 165874	NM_001267550.2(TTN):c.68208T>A (p.Val22736=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 512904	NM_001267550.2(TTN):c.68199G>A (p.Glu22733=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 47262	NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1737779	NM_001267550.2(TTN):c.68172T>C (p.Tyr22724=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 191911	NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)	LOC126806423, TTN +1 more (E20153K +5 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 47261	NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 413127	NM_001267550.2(TTN):c.68154C>T (p.Val22718=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2586540	NM_001267550.2(TTN):c.68148C>T (p.Phe22716=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1586691	NM_001267550.2(TTN):c.68142T>C (p.Tyr22714=)	TTN-AS1, LOC126806423 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 592957	NM_001267550.2(TTN):c.68137G>A (p.Glu22713Lys)	LOC126806423, TTN +1 more (E20145K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1737679	NM_001267550.2(TTN):c.68092G>T (p.Val22698Phe)	LOC126806423, TTN +1 more (V13633F +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 264080	NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr)	LOC126806423, TTN +1 more (A13630T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 178197	NM_001267550.2(TTN):c.68082C>T (p.Cys22694=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 47260	NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 191912	NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)	LOC126806423, TTN +1 more (T20125M +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 1737669	NM_001267550.2(TTN):c.68074G>T (p.Val22692Leu)	LOC126806423, TTN +1 more (V13627L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737668	NM_001267550.2(TTN):c.68064CAA[1] (p.Asn22689del)	LOC126806423, TTN +1 more (N22689del +5 more)	Microsatellite (inframe_deletion)	Cardiovascular phenotype	GUncertain significance
Select item 1737656	NM_001267550.2(TTN):c.68048A>G (p.Lys22683Arg)	LOC126806423, TTN +1 more (K13810R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1665148	NM_001267550.2(TTN):c.68040C>T (p.Ile22680=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 467407	NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1737625	NM_001267550.2(TTN):c.68003C>A (p.Pro22668Gln)	LOC126806423, TTN +1 more (P13603Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 467405	NM_001267550.2(TTN):c.67980C>T (p.Ala22660=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1602605	NM_001267550.2(TTN):c.67971A>G (p.Thr22657=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 262330	NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1737577	NM_001267550.2(TTN):c.67947A>C (p.Gly22649=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447068	NM_001267550.2(TTN):c.67926C>T (p.Gly22642=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 743914	NM_001267550.2(TTN):c.67923T>C (p.Val22641=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 202815	NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile)	LOC126806423, TTN +1 more (V20999I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 467404	NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile)	LOC126806423, TTN +1 more (V22628I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +6 more	GUncertain significance
Select item 1737496	NM_001267550.2(TTN):c.67851T>C (p.Asp22617=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 178198	NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 2566458	NM_001267550.2(TTN):c.67818A>G (p.Thr22606=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 238829	NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +7 more	GConflicting classifications of pathogenicity
Select item 165879	NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)	LOC126806423, TTN +1 more (A20035V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 1737475	NM_001267550.2(TTN):c.67800G>A (p.Glu22600=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 754222	NM_001267550.2(TTN):c.67794T>C (p.Ser22598=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 202814	NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)	LOC126806423, TTN +1 more (S20957R +5 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 794780	NM_001267550.2(TTN):c.67788A>G (p.Arg22596=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GConflicting classifications of pathogenicity
Select item 1737395	NM_001267550.2(TTN):c.67741T>A (p.Ser22581Thr)	LOC126806423, TTN +1 more (S13708T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1128440	NM_001267550.2(TTN):c.67737T>G (p.Ala22579=)	TTN-AS1, LOC126806423 +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1670544	NM_001267550.2(TTN):c.67716C>A (p.Ile22572=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 202813	NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln)	LOC126806423, TTN +1 more (R20928Q +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1737374	NM_001267550.2(TTN):c.67705C>T (p.Arg22569Trp)	TTN-AS1, LOC126806423 +1 more (R20001W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 47257	NM_001267550.2(TTN):c.67681T>C (p.Leu22561=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 202812	NM_001267550.2(TTN):c.67660G>C (p.Gly22554Arg)	LOC126806423, TTN +1 more (G20913R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737313	NM_001267550.2(TTN):c.67653C>T (p.Asp22551=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1737304	NM_001267550.2(TTN):c.67637-1G>T	LOC126806423, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GUncertain significance
Select item 263509	NM_001267550.2(TTN):c.67637-1G>C	LOC126806423, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 167773	NM_001267550.2(TTN):c.67637-4A>G	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 47255	NM_001267550.2(TTN):c.67635T>C (p.Val22545=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 1737294	NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)	LOC126806423, TTN +1 more (V13599I +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1119257	NM_001267550.2(TTN):c.67614T>C (p.Thr22538=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 502233	NM_001267550.2(TTN):c.67609del (p.Ile22537fs)	LOC126806423, TTN +1 more (I13597fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 699530	NM_001267550.2(TTN):c.67605C>T (p.Ser22535=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 220680	NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)	LOC126806423, TTN +1 more (S22535N +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 389827	NM_001267550.2(TTN):c.67587T>C (p.Asn22529=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GLikely benign
Select item 1737236	NM_001267550.2(TTN):c.67557T>C (p.Tyr22519=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 467401	NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met)	LOC126806423, TTN +1 more (T13574M +5 more)	Indel (missense variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 47253	NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 178875	NM_001267550.2(TTN):c.67537T>C (p.Leu22513=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1737202	NM_001267550.2(TTN):c.67503G>A (p.Met22501Ile)	LOC126806423, TTN +1 more (M13436I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 586893	NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln)	LOC126806423, TTN +1 more (R22499Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +7 more	GUncertain significance
Select item 519152	NM_001267550.2(TTN):c.67495C>G (p.Arg22499Gly)	LOC126806423, TTN +1 more (R13434G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 180573	NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)	LOC126806423, TTN +1 more (R22499* +5 more)	Single nucleotide variant (nonsense)	Centronuclear myopathy +9 more	GPathogenic/Likely pathogenic
Select item 518646	NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile)	LOC126806423, TTN +1 more (V13423I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1737136	NM_001267550.2(TTN):c.67445G>T (p.Arg22482Leu)	LOC126806423, TTN +1 more (R13417L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 165880	NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)	LOC126806423, TTN +1 more (R19914Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 165881	NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp)	LOC126806423, TTN +1 more (R19914W +5 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1121570	NM_001267550.2(TTN):c.67428C>T (p.His22476=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign

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Items: 79