"Ambry Genetics"[submitter] AND "LOC126806422"[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96300	NM_001267550.2(TTN):c.70651C>T (p.Leu23551=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 47288	NM_001267550.2(TTN):c.70644C>T (p.Thr23548=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1739867	NM_001267550.2(TTN):c.70620C>T (p.Asn23540=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1284861	NM_001267550.2(TTN):c.70560A>G (p.Pro23520=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2586535	NM_001267550.2(TTN):c.70558_70559delinsAG (p.Pro23520Arg)	LOC126806422, TTN +1 more (P14647R +5 more)	Indel (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1739800	NM_001267550.2(TTN):c.70526T>C (p.Val23509Ala)	LOC126806422, TTN +1 more (V14444A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 448815	NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 47286	NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)	LOC126806422, TTN +1 more (G23498S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 96299	NM_001267550.2(TTN):c.70491C>T (p.Thr23497=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 448814	NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn)	LOC126806422, TTN +1 more (K23495N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1739739	NM_001267550.2(TTN):c.70482T>C (p.Tyr23494=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1088041	NM_001267550.2(TTN):c.70470T>C (p.His23490=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 2451890	NM_001267550.2(TTN):c.70461T>G (p.Thr23487=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 535076	NM_001267550.2(TTN):c.70455C>T (p.Ala23485=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 196058	NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)	LOC126806422, TTN +1 more (R23479W +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1739709	NM_001267550.2(TTN):c.70422A>G (p.Lys23474=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739702	NM_001267550.2(TTN):c.70413T>C (p.Ile23471=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 518914	NM_001267550.2(TTN):c.70410C>T (p.Tyr23470=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1096792	NM_001267550.2(TTN):c.70404A>T (p.Thr23468=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 196075	NM_001267550.2(TTN):c.70396C>T (p.Arg23466Cys)	LOC126806422, TTN +1 more (R23466C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1739673	NM_001267550.2(TTN):c.70391G>C (p.Gly23464Ala)	LOC126806422, TTN +1 more (G14591A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1739667	NM_001267550.2(TTN):c.70378_70379del (p.Leu23460fs)	LOC126806422, TTN +1 more (L14587fs +5 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2566435	NM_001267550.2(TTN):c.70353T>C (p.Ser23451=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739651	NM_001267550.2(TTN):c.70338C>T (p.Asp23446=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 519099	NM_001267550.2(TTN):c.70331C>G (p.Pro23444Arg)	LOC126806422, TTN +1 more (P14379R +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1217906	NM_001267550.2(TTN):c.70328G>A (p.Arg23443Gln)	LOC126806422, TTN +1 more (R14378Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1102634	NM_001267550.2(TTN):c.70326G>A (p.Leu23442=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1656435	NM_001267550.2(TTN):c.70323C>T (p.Asn23441=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 47284	NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 1739584	NM_001267550.2(TTN):c.70264G>C (p.Gly23422Arg)	LOC126806422, TTN +1 more (G14482R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 263730	NM_001267550.2(TTN):c.70260G>A (p.Pro23420=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 698638	NM_001267550.2(TTN):c.70257C>T (p.Asn23419=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1739582	NM_001267550.2(TTN):c.70255A>C (p.Asn23419His)	LOC126806422, TTN +1 more (N14546H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 178192	NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)	LOC126806422, TTN +1 more (I20849T +5 more)	Single nucleotide variant (missense variant)	Tibial muscular dystrophy +8 more	GBenign/Likely benign
Select item 405142	NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu)	LOC126806422, TTN +1 more (M23415L +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +6 more	GUncertain significance
Select item 282288	NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser)	LOC126806422, TTN +1 more (G23411S +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 518938	NM_001267550.2(TTN):c.70210_70223delinsTTTACTCTTC (p.Glu23404fs)	LOC126806422, TTN +1 more (E20836fs +5 more)	Indel (frameshift variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 701491	NM_001267550.2(TTN):c.70194T>C (p.Thr23398=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 703113	NM_001267550.2(TTN):c.70182G>A (p.Thr23394=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 47283	NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)	LOC126806422, TTN +1 more (T23394M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 202402	NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter)	TTN-AS1, LOC126806422 +1 more (R21747* +5 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1739465	NM_001267550.2(TTN):c.70155G>A (p.Leu23385=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2566364	NM_001267550.2(TTN):c.70146C>T (p.Asn23382=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1739459	NM_001267550.2(TTN):c.70137_70138delinsTTCAGGTTG (p.Lys23380delinsSerGlyTer)	LOC126806422, TTN +1 more	Indel (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 703388	NM_001267550.2(TTN):c.70137C>T (p.Thr23379=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 283319	NM_001267550.2(TTN):c.70137C>A (p.Thr23379=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1739454	NM_001267550.2(TTN):c.70132T>C (p.Trp23378Arg)	LOC126806422, TTN +1 more (W23378R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 180028	NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)	TTN-AS1, LOC126806422 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 893047	NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys)	LOC126806422, TTN +1 more (R14306C +5 more)	Single nucleotide variant (missense variant)	Early-onset myopathy with fatal cardiomyopathy +5 more	GUncertain significance
Select item 165860	NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)	LOC126806422, TTN +1 more (I20800V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 196082	NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala)	LOC126806422, TTN +1 more (V23366A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1157116	NM_001267550.2(TTN):c.70083T>C (p.Ser23361=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1634485	NM_001267550.2(TTN):c.70059A>T (p.Thr23353=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 178193	NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 594117	NM_001267550.2(TTN):c.70044C>T (p.Ala23348=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1204714	NM_001267550.2(TTN):c.70039G>C (p.Asp23347His)	LOC126806422, TTN +1 more (D14282H +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283446	NM_001267550.2(TTN):c.70026T>C (p.Pro23342=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1739349	NM_001267550.2(TTN):c.70009G>C (p.Glu23337Gln)	LOC126806422, TTN +1 more (E14464Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 202821	NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile)	LOC126806422, TTN +1 more (V21695I +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +7 more	GUncertain significance
Select item 413131	NM_001267550.2(TTN):c.70005C>T (p.Ile23335=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely benign
Select item 430169	NM_001267550.2(TTN):c.70000del (p.Glu23334fs)	TTN-AS1, LOC126806422 +1 more (E14461fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1739344	NM_001267550.2(TTN):c.69999del (p.Glu23334fs)	LOC126806422, TTN +1 more (E20766fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 1739343	NM_001267550.2(TTN):c.69997G>T (p.Val23333Phe)	LOC126806422, TTN +1 more (V23333F +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 288075	NM_001267550.2(TTN):c.69984G>A (p.Ala23328=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 1739295	NM_001267550.2(TTN):c.69973G>C (p.Gly23325Arg)	LOC126806422, TTN +1 more (G14385R +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 700644	NM_001267550.2(TTN):c.69960C>T (p.Asn23320=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1739275	NM_001267550.2(TTN):c.69935A>G (p.Tyr23312Cys)	LOC126806422, TTN +1 more (Y20744C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1093108	NM_001267550.2(TTN):c.69915T>C (p.Asp23305=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 47279	NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile)	LOC126806422, TTN +1 more (V23302I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 500616	NM_001267550.2(TTN):c.69903C>T (p.Phe23301=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 47278	NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)	LOC126806422, TTN +1 more (F23301L +5 more)	Single nucleotide variant (missense variant)	TTN-related condition +6 more	GConflicting classifications of pathogenicity
Select item 1739218	NM_001267550.2(TTN):c.69888C>T (p.Leu23296=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 405191	NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr)	LOC126806422, TTN +1 more (A23295T +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 386217	NM_001267550.2(TTN):c.69882C>T (p.Thr23294=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 519098	NM_001267550.2(TTN):c.69876A>G (p.Thr23292=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 501671	NM_001267550.2(TTN):c.69876A>C (p.Thr23292=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 165861	NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)	LOC126806422, TTN +1 more (I20720M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 178194	NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys)	LOC126806422, TTN +1 more (E20717K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 506991	NM_001267550.2(TTN):c.69828C>T (p.Val23276=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GLikely benign
Select item 47277	NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)	LOC126806422, TTN +1 more (G23274D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GConflicting classifications of pathogenicity
Select item 1739172	NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)	LOC126806422, TTN +1 more (G14204E +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 413184	NM_001267550.2(TTN):c.69768T>C (p.Ser23256=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +3 more	GLikely benign
Select item 1739121	NM_001267550.2(TTN):c.69762G>A (p.Lys23254=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 500800	NM_001267550.2(TTN):c.69749C>T (p.Thr23250Ile)	LOC126806422, TTN +1 more (T20682I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 390575	NM_001267550.2(TTN):c.69741G>A (p.Pro23247=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 47276	NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)	LOC126806422, TTN +1 more (P23247L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 137806	NM_001267550.2(TTN):c.69716-5C>G	LOC126806422, TTN +1 more	Single nucleotide variant (intron variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1739099	NM_001267550.2(TTN):c.69715T>C (p.Tyr23239His)	LOC126806422, TTN +1 more (Y14299H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 47275	NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)	LOC126806422, TTN +1 more (S23226G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +12 more	GBenign/Likely benign
Select item 497194	NM_001267550.2(TTN):c.69660A>G (p.Ala23220=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +4 more	GConflicting classifications of pathogenicity
Select item 1739031	NM_001267550.2(TTN):c.69657A>G (p.Arg23219=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1739023	NM_001267550.2(TTN):c.69638G>C (p.Arg23213Pro)	LOC126806422, TTN +1 more (R14148P +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 467422	NM_001267550.2(TTN):c.69638G>A (p.Arg23213His)	LOC126806422, TTN +1 more (R23213H +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 519183	NM_001267550.2(TTN):c.69631G>C (p.Glu23211Gln)	LOC126806422, TTN +1 more (E14146Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 378825	NM_001267550.2(TTN):c.69630C>T (p.Tyr23210=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1080569	NM_001267550.2(TTN):c.69606A>C (p.Thr23202=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 1501762	NM_001267550.2(TTN):c.69571_69592dup (p.Arg23198fs)	LOC126806422, TTN +1 more (R14325fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 47274	NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)	LOC126806422, TTN +1 more	Single nucleotide variant (synonymous variant)	TTN-related condition +9 more	GBenign/Likely benign
Select item 510009	NM_001267550.2(TTN):c.69575C>T (p.Thr23192Ile)	TTN-AS1, LOC126806422 +1 more (T21551I +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Items: 99