"Ambry Genetics"[submitter] AND "LOC126806424"[gene] - ClinVar

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1729982	NM_001267550.2(TTN):c.60205T>C (p.Cys20069Arg)	LOC126806424, TTN +1 more (C17501R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1729971	NM_001267550.2(TTN):c.60202G>C (p.Glu20068Gln)	LOC126806424, TTN +1 more (E17500Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 228116	NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GBenign/Likely benign
Select item 699534	NM_001267550.2(TTN):c.60195C>A (p.Ile20065=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	TTN-related condition +7 more	GLikely benign
Select item 1594531	NM_001267550.2(TTN):c.60180C>G (p.Leu20060=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 228115	NM_001267550.2(TTN):c.60180C>T (p.Leu20060=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1729883	NM_001267550.2(TTN):c.60163A>G (p.Ile20055Val)	LOC126806424, TTN +1 more (I11115V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451924	NM_001267550.2(TTN):c.60162C>T (p.Asn20054=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 202748	NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)	LOC126806424, TTN +1 more (R18408H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 516824	NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1155572	NM_001267550.2(TTN):c.60129A>G (p.Gly20043=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 238815	NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe)	LOC126806424, TTN +1 more (C20035F +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1729808	NM_001267550.2(TTN):c.60087T>C (p.Thr20029=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1729807	NM_001267550.2(TTN):c.60086C>A (p.Thr20029Asn)	LOC126806424, TTN +1 more (T11156N +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 47159	NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)	LOC126806424, TTN +1 more (E20019K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 701463	NM_001267550.2(TTN):c.60027C>T (p.Ile20009=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 515782	NM_001267550.2(TTN):c.60025A>G (p.Ile20009Val)	LOC126806424, TTN +1 more (I18368V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 263757	NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)	LOC126806424, TTN +1 more (R17435H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1027577	NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly)	LOC126806424, TTN +1 more (R10938G +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 47157	NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)	LOC126806424, TTN +1 more (D20002G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 413209	NM_001267550.2(TTN):c.60003G>A (p.Pro20001=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 426838	NM_001267550.2(TTN):c.59977G>T (p.Glu19993Ter)	LOC126806424, TTN +1 more (E18352* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 202746	NM_001267550.2(TTN):c.59966T>C (p.Val19989Ala)	LOC126806424, TTN +1 more (V18348A +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 671939	NM_001267550.2(TTN):c.59965G>A (p.Val19989Ile)	LOC126806424, TTN +1 more (V10924I +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 47156	NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 179752	NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)	TTN-AS1, LOC126806424 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 165933	NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)	LOC126806424, TTN +1 more (H17408Y +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 332822	NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)	LOC126806424, TTN +1 more (A19971V +5 more)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Recessive +10 more	GUncertain significance
Select item 202744	NM_001267550.2(TTN):c.59894C>T (p.Thr19965Ile)	LOC126806424, TTN +1 more (T18324I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519155	NM_001267550.2(TTN):c.59876G>A (p.Arg19959His)	TTN-AS1, LOC126806424 +1 more (R10894H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 592799	NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys)	LOC126806424, TTN +1 more (R17391C +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 413217	NM_001267550.2(TTN):c.59859G>A (p.Ala19953=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 263721	NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)	LOC126806424, TTN +1 more (R17382Q +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 575441	NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter)	LOC126806424, TTN +1 more (R19950* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 1729564	NM_001267550.2(TTN):c.59844C>T (p.Leu19948=)	TTN-AS1, LOC126806424 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 47155	NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 682164	NM_001267550.2(TTN):c.59812G>A (p.Ala19938Thr)	LOC126806424, TTN +1 more (A10998T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 702760	NM_001267550.2(TTN):c.59811C>T (p.Phe19937=)	TTN-AS1, LOC126806424 +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1729479	NM_001267550.2(TTN):c.59775A>G (p.Ser19925=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1729469	NM_001267550.2(TTN):c.59767C>T (p.Gln19923Ter)	LOC126806424, TTN +1 more (Q18282* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 1387286	NM_001267550.2(TTN):c.59763C>T (p.Ser19921=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 571618	NM_001267550.2(TTN):c.59763del (p.Ser19921fs)	LOC126806424, TTN +1 more (S10856fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 1729445	NM_001267550.2(TTN):c.59740G>A (p.Val19914Ile)	LOC126806424, TTN +1 more (V10849I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 669201	NM_001267550.2(TTN):c.59736T>C (p.Tyr19912=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1729426	NM_001267550.2(TTN):c.59719_59720insATT (p.Gly19906_Ser19907insTyr)	LOC126806424, TTN +1 more	Insertion (inframe_insertion)	Cardiovascular phenotype	GUncertain significance
Select item 1729416	NM_001267550.2(TTN):c.59697A>G (p.Lys19899=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 504986	NM_001267550.2(TTN):c.59693G>A (p.Trp19898Ter)	LOC126806424, TTN +1 more (W17330* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +5 more	GLikely pathogenic
Select item 1729361	NM_001267550.2(TTN):c.59684A>G (p.Tyr19895Cys)	LOC126806424, TTN +1 more (Y10830C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1729337	NM_001267550.2(TTN):c.59662G>A (p.Glu19888Lys)	LOC126806424, TTN +1 more (E17320K +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1729306	NM_001267550.2(TTN):c.59605dup (p.Ser19869fs)	LOC126806424, TTN +1 more (S10996fs +5 more)	Duplication (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1729295	NM_001267550.2(TTN):c.59602_59603del (p.Val19868fs)	LOC126806424, TTN +1 more (V17300fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 47152	NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu)	LOC126806424, TTN +1 more (P19862L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 229476	NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser)	LOC126806424, TTN +1 more (L17289S +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1729219	NM_001267550.2(TTN):c.59536A>C (p.Asn19846His)	LOC126806424, TTN +1 more (N19846H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1329168	NM_001267550.2(TTN):c.59533C>T (p.Arg19845Cys)	LOC126806424, TTN +1 more (R10780C +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1729204	NM_001267550.2(TTN):c.59517T>C (p.Gly19839=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 178881	NM_001267550.2(TTN):c.59504T>G (p.Val19835Gly)	LOC126806424, TTN +1 more (V17267G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 501746	NM_001267550.2(TTN):c.59502T>C (p.Asp19834=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 405007	NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg)	LOC126806424, TTN +1 more (K19830R +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 9 +7 more	GUncertain significance
Select item 467328	NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)	LOC126806424, TTN +1 more (R19825T +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more	GConflicting classifications of pathogenicity
Select item 519027	NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)	LOC126806424, TTN +1 more (W10755* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 1589404	NM_001267550.2(TTN):c.59445C>T (p.Phe19815=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1729108	NM_001267550.2(TTN):c.59436del (p.Val19813fs)	TTN-AS1, LOC126806424 +1 more (V10873fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1729099	NM_001267550.2(TTN):c.59425A>G (p.Ile19809Val)	LOC126806424, TTN +1 more (I10936V +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 238813	NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp)	LOC126806424, TTN +1 more (G19801D +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1729018	NM_001267550.2(TTN):c.59394del (p.Val19800fs)	LOC126806424, TTN +1 more (V10735fs +5 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1728998	NM_001267550.2(TTN):c.59369C>G (p.Ala19790Gly)	LOC126806424, TTN +1 more (A19790G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 195917	NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu)	LOC126806424, TTN +1 more (I19787L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 202393	NM_001267550.2(TTN):c.59353G>T (p.Glu19785Ter)	LOC126806424, TTN +1 more (E18144* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 264060	NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)	LOC126806424, TTN +1 more (P10719fs +5 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 137799	NM_001267550.2(TTN):c.59344+3G>A	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 1152206	NM_001267550.2(TTN):c.59331A>G (p.Val19777=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely benign
Select item 47151	NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	TTN-related condition +8 more	GConflicting classifications of pathogenicity
Select item 47150	NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 47149	NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly)	LOC126806424, TTN +1 more (E19773G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 195845	NM_001267550.2(TTN):c.59316G>A (p.Pro19772=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	TTN-related condition +5 more	GConflicting classifications of pathogenicity
Select item 47148	NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)	LOC126806424, TTN +1 more (P19772L +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign

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Items: 77