LOC126806424[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 560108	Single allele	LOC126806420, LOC126806421 +12 more	Deletion	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 2579187	GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1	LOC126806422, LOC126806423 +7 more	Copy number loss	Dilated cardiomyopathy 1G	GPathogenic
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)	not specified +8 more	GBenign/Likely benign
Select item 202749	NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)	LOC126806424, TTN +1 more (P18425L +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 699534	NM_001267550.2(TTN):c.60195C>A (p.Ile20065=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 535728	NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Tibial muscular dystrophy +4 more	GConflicting classifications of pathogenicity
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)	not specified +1 more	GLikely benign
Select item 283626	NM_001267550.2(TTN):c.60176G>A (p.Gly20059Asp)	LOC126806424, TTN +1 more (G18418D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808976	NM_001267550.2(TTN):c.60175G>C (p.Gly20059Arg)	LOC126806424, TTN +1 more (G20059R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288958	NM_001267550.2(TTN):c.60175G>T (p.Gly20059Cys)	LOC126806424, TTN +1 more (G20059C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310040	NM_001267550.2(TTN):c.60170G>T (p.Gly20057Val)	TTN-AS1, LOC126806424 +1 more (G10992V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Autosomal recessive limb-girdle muscular dystrophy type 2J +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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 202747	NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys)	LOC126806424, TTN +1 more (R18406K +5 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 3330157	NM_001267550.2(TTN):c.60138T>A (p.Tyr20046Ter)	LOC126806424, TTN +1 more (Y11173* +5 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GLikely pathogenic
Select item 516824	NM_001267550.2(TTN):c.60138T>C (p.Tyr20046=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +4 more	GLikely benign
Select item 2438022	NM_001267550.2(TTN):c.60137A>G (p.Tyr20046Cys)	LOC126806424, TTN +1 more (Y10981C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3065148	NM_001267550.2(TTN):c.60127G>T (p.Gly20043Ter)	LOC126806424, TTN +1 more (G10978* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 467332	NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del)	LOC126806424, TTN +1 more (Q20042del +5 more)	Microsatellite (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 1299961	NM_001267550.2(TTN):c.60124C>T (p.Gln20042Ter)	LOC126806424, TTN +1 more (Q10977* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 202396	NM_001267550.2(TTN):c.60121C>T (p.Gln20041Ter)	LOC126806424, TTN +1 more (Q18400* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GPathogenic/Likely pathogenic
Select item 238816	NM_001267550.2(TTN):c.60120A>G (p.Leu20040=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 626428	NM_001267550.2(TTN):c.60109G>T (p.Val20037Phe)	LOC126806424, TTN +1 more (V18396F +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
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 915565	NM_001267550.2(TTN):c.60099dup (p.Glu20034fs)	LOC126806424, TTN +1 more (E11094fs +5 more)	Duplication (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 3363097	NM_001267550.2(TTN):c.60098T>G (p.Leu20033Ter)	LOC126806424, TTN +1 more (L10968* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
Select item 535292	NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val)	LOC126806424, TTN +1 more (L20033V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1307959	NM_001267550.2(TTN):c.60096C>G (p.Asn20032Lys)	LOC126806424, TTN +1 more (N10967K +5 more)	Single nucleotide variant (missense variant)	not provided	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 3342135	NM_001267550.2(TTN):c.60083_60085dup (p.Lys20028_Thr20029insLys)	LOC126806424, TTN +1 more	Duplication (inframe_insertion)	not provided	GUncertain significance
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 1119218	NM_001267550.2(TTN):c.60066G>A (p.Gln20022=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 467331	NM_001267550.2(TTN):c.60062C>T (p.Thr20021Ile)	LOC126806424, TTN +1 more (T20021I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1172853	NM_001267550.2(TTN):c.60059G>A (p.Gly20020Asp)	LOC126806424, TTN +1 more (G10955D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 332821	NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del)	LOC126806424, TTN +1 more (E20019del +5 more)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy +5 more	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)	Myopathy, myofibrillar, 9, with early respiratory failure +8 more	GBenign/Likely benign
Select item 2418891	NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)	LOC126806424, TTN +1 more (Q10952* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3330139	NM_001267550.2(TTN):c.60033A>G (p.Gly20011=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 893555	NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Myopathy, myofibrillar, 9, with early respiratory failure +4 more	GConflicting classifications of pathogenicity
Select item 797372	NM_001267550.2(TTN):c.60030T>C (p.Thr20010=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 701463	NM_001267550.2(TTN):c.60027C>T (p.Ile20009=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 9 +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)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 229479	NM_001267550.2(TTN):c.60023C>T (p.Pro20008Leu)	LOC126806424, TTN +1 more (P17440L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	Autosomal recessive limb-girdle muscular dystrophy type 2J +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)	Autosomal recessive limb-girdle muscular dystrophy type 2J +6 more	GLikely benign
Select item 180096	NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu)	TTN-AS1, LOC126806424 +1 more (P17433L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1466712	NM_001267550.2(TTN):c.59997del (p.Asn19999fs)	LOC126806424, TTN +1 more (N17431fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 1066815	NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)	LOC126806424, TTN +1 more (W10933* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 500667	NM_001267550.2(TTN):c.59987T>G (p.Leu19996Arg)	LOC126806424, TTN +1 more (L17428R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2633931	NM_001267550.2(TTN):c.59971A>G (p.Lys19991Glu)	LOC126806424, TTN +1 more (K10926E +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder	GUncertain significance
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)	TTN-AS1, LOC126806424 +1 more (V10924I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 467330	NM_001267550.2(TTN):c.59965G>C (p.Val19989Leu)	TTN-AS1, LOC126806424 +1 more (V19989L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 1088645	NM_001267550.2(TTN):c.59946G>A (p.Lys19982=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2948874	NM_001267550.2(TTN):c.59943C>T (p.Pro19981=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 47156	NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +8 more	GBenign/Likely benign
Select item 2949538	NM_001267550.2(TTN):c.59937G>T (p.Gly19979=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 179752	NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1117834	NM_001267550.2(TTN):c.59934A>G (p.Pro19978=)	LOC126806424, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 509608	NM_001267550.2(TTN):c.59927-16CTT[2]	LOC126806424, TTN +1 more	Microsatellite (intron variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1579883	NM_001267550.2(TTN):c.59927-10C>T	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 626672	NM_001267550.2(TTN):c.59927-10C>A	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 1254030	NM_001267550.2(TTN):c.59927-11T>A	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 1927809	NM_001267550.2(TTN):c.59927-13C>A	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2938601	NM_001267550.2(TTN):c.59927-14T>G	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1594133	NM_001267550.2(TTN):c.59927-15T>C	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2931284	NM_001267550.2(TTN):c.59927-16C>G	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2089432	NM_001267550.2(TTN):c.59927-18A>C	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2069746	NM_001267550.2(TTN):c.59927-19T>C	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 507493	NM_001267550.2(TTN):c.59927-19T>A	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 509900	NM_001267550.2(TTN):c.59927-20A>G	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1623090	NM_001267550.2(TTN):c.59926+13C>T	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 1610247	NM_001267550.2(TTN):c.59926+10T>C	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1310611	NM_001267550.2(TTN):c.59926+4A>G	LOC126806424, TTN +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2921555	NM_001267550.2(TTN):c.59926+1G>C	LOC126806424, TTN +1 more	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GPathogenic
Select item 574210	NM_001267550.2(TTN):c.59926+1G>A	LOC126806424, TTN +1 more	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 165933	NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)	LOC126806424, TTN +1 more (H17408Y +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 968328	NM_001267550.2(TTN):c.59906_59924delinsAA (p.Ile19969fs)	LOC126806424, TTN +1 more (I10904fs +5 more)	Indel (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 978753	NM_001267550.2(TTN):c.59920C>A (p.Pro19974Thr)	LOC126806424, TTN +1 more (P10909T +5 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GLikely benign
Select item 962121	NM_001267550.2(TTN):c.59917del (p.Asp19973fs)	LOC126806424, TTN +1 more (D11100fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 467329	NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn)	LOC126806424, TTN +1 more (D19973N +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 535226	NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe)	LOC126806424, TTN +1 more (L19972F +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance

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