LOC126806423[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 583796	NC_000002.11:g.(?_179296804)_(179456251_?)dup	CHROMR, FKBP7 +17 more	Duplication	Dystonia 16	GUncertain significance
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 2926029	NM_001267550.2(TTN):c.68329+11T>A	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1640037	NM_001267550.2(TTN):c.68329+8G>T	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 691834	NM_001267550.2(TTN):c.68329+2_68329+3insTT	LOC126806423, TTN +1 more	Insertion (splice donor variant)	Dilated cardiomyopathy 1G +3 more	GConflicting classifications of pathogenicity
Select item 3342624	NM_001267550.2(TTN):c.68329+1G>A	LOC126806423, TTN +1 more	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1439368	NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg)	LOC126806423, TTN +1 more (G21136R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
Select item 497814	NM_001267550.2(TTN):c.68328A>G (p.Thr22776=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +2 more	GConflicting classifications of pathogenicity
Select item 659069	NM_001267550.2(TTN):c.68325dup (p.Thr22776fs)	LOC126806423, TTN +1 more (T13836fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 3351890	NM_001267550.2(TTN):c.68323A>G (p.Ile22775Val)	LOC126806423, TTN +1 more (I13710V +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder	GUncertain significance
Select item 281827	NM_001267550.2(TTN):c.68321C>T (p.Pro22774Leu)	LOC126806423, TTN +1 more (P21133L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594413	NM_001267550.2(TTN):c.68314G>C (p.Gly22772Arg)	LOC126806423, TTN +1 more (G20204R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2942226	NM_001267550.2(TTN):c.68310T>C (p.Thr22770=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
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 1661663	NM_001267550.2(TTN):c.68304G>A (p.Lys22768=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 405064	NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg)	LOC126806423, TTN +1 more (K22768R +5 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GUncertain significance
Select item 1012352	NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter)	LOC126806423, TTN +1 more (K13703* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G	GPathogenic
Select item 586895	NM_001267550.2(TTN):c.68300C>T (p.Pro22767Leu)	LOC126806423, TTN +1 more (P22767L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 404898	NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)	LOC126806423, TTN +1 more (D22766E +5 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1455326	NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs)	LOC126806423, TTN +1 more (W13699fs +5 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 894610	NM_001267550.2(TTN):c.68285T>C (p.Leu22762Pro)	LOC126806423, TTN +1 more (L13822P +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +4 more	GUncertain significance
Select item 47266	NM_001267550.2(TTN):c.68282C>T (p.Ser22761Phe)	LOC126806423, TTN +1 more (S22761F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 47264	NM_001267550.2(TTN):c.68272G>A (p.Asp22758Asn)	LOC126806423, TTN +1 more (D22758N +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1512355	NM_001267550.2(TTN):c.68269del (p.His22757fs)	LOC126806423, TTN +1 more (H13692fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 2035628	NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)	LOC126806423, TTN +1 more (D13689fs +5 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
Select item 1602649	NM_001267550.2(TTN):c.68266A>C (p.Arg22756=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 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 535003	NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser)	LOC126806423, TTN +1 more (N22751S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 179588	NM_001267550.2(TTN):c.68251A>C (p.Asn22751His)	LOC126806423, TTN +1 more (N20183H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 467410	NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser)	LOC126806423, TTN +1 more (P22750S +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 426390	NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs)	LOC126806423, TTN +1 more (P22749fs +5 more)	Duplication (frameshift variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 2438012	NM_001267550.2(TTN):c.68236G>A (p.Ala22746Thr)	LOC126806423, TTN +1 more (A13681T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1145194	NM_001267550.2(TTN):c.68235T>C (p.Asp22745=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +5 more	GLikely benign
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 2952076	NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)	LOC126806423, TTN +1 more (P13871T +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 2944391	NM_001267550.2(TTN):c.68229G>T (p.Val22743=)	TTN-AS1, LOC126806423 +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1949726	NM_001267550.2(TTN):c.68229G>C (p.Val22743=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 284299	NM_001267550.2(TTN):c.68228T>G (p.Val22743Gly)	LOC126806423, TTN +1 more (V22743G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2947230	NM_001267550.2(TTN):c.68225-1G>A	LOC126806423, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely pathogenic
Select item 692128	NM_001267550.2(TTN):c.68225-1G>C	LOC126806423, TTN +1 more	Single nucleotide variant (splice acceptor variant)	Primary dilated cardiomyopathy	GUncertain significance
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 2942268	NM_001267550.2(TTN):c.68225-6T>A	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2924181	NM_001267550.2(TTN):c.68225-8T>C	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1135631	NM_001267550.2(TTN):c.68225-9T>A	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 757768	NM_001267550.2(TTN):c.68225-10T>C	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2028906	NM_001267550.2(TTN):c.68225-12A>G	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1964717	NM_001267550.2(TTN):c.68225-15T>C	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 1613496	NM_001267550.2(TTN):c.68225-18T>C	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GLikely benign
Select item 1621541	NM_001267550.2(TTN):c.68224+20A>G	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2157252	NM_001267550.2(TTN):c.68224+12A>G	LOC126806423, TTN +1 more	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GLikely benign
Select item 2947577	NM_001267550.2(TTN):c.68224+3_68224+6del	LOC126806423, TTN +1 more	Deletion (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +1 more	GUncertain significance
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 534989	NM_001267550.2(TTN):c.68224+3A>G	TTN-AS1, LOC126806423 +1 more	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1G +2 more	GUncertain significance
Select item 1500057	NM_001267550.2(TTN):c.68224+2T>C	LOC126806423, TTN +1 more	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +2 more	GLikely pathogenic
Select item 1490628	NM_001267550.2(TTN):c.68224+1G>A	LOC126806423, TTN +1 more	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 2090732	NM_001267550.2(TTN):c.68220A>G (p.Pro22740=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
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)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GBenign
Select item 2437970	NM_001267550.2(TTN):c.68215C>T (p.His22739Tyr)	LOC126806423, TTN +1 more (H13674Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413053	NM_001267550.2(TTN):c.68211G>A (p.Ala22737=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	not provided +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 2438006	NM_001267550.2(TTN):c.68198A>C (p.Glu22733Ala)	LOC126806423, TTN +1 more (E13668A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2951228	NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)	LOC126806423, TTN +1 more (E13860* +5 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1G +1 more	GLikely pathogenic
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 290366	NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu)	LOC126806423, TTN +1 more (S22732L +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 180107	NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter)	LOC126806423, TTN +1 more (S20164* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 2637059	NM_001267550.2(TTN):c.68189T>C (p.Leu22730Pro)	LOC126806423, TTN +1 more (L13665P +5 more)	Single nucleotide variant (missense variant)	TTN-related disorder	GUncertain significance
Select item 2502730	NM_001267550.2(TTN):c.68186G>T (p.Gly22729Val)	LOC126806423, TTN +1 more (G13664V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1099545	NM_001267550.2(TTN):c.68181G>A (p.Gly22727=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 467409	NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile)	LOC126806423, TTN +1 more (V22726I +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +1 more	GUncertain significance
Select item 3338353	NM_001267550.2(TTN):c.68172T>G (p.Tyr22724Ter)	LOC126806423, TTN +1 more (Y13659* +5 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1879067	NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)	LOC126806423, TTN +1 more (Y13659* +5 more)	Duplication (nonsense)	Dilated cardiomyopathy 1G	GLikely pathogenic
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 2941638	NM_001267550.2(TTN):c.68169A>G (p.Lys22723=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 more	GLikely benign
Select item 2632454	NM_001267550.2(TTN):c.68169del (p.Lys22723fs)	LOC126806423, TTN +1 more (K13658fs +5 more)	Deletion (frameshift variant)	TTN-related disorder	GLikely pathogenic
Select item 229499	NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser)	LOC126806423, TTN +1 more (N20154S +5 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2938161	NM_001267550.2(TTN):c.68163A>G (p.Glu22721=)	LOC126806423, TTN +1 more	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1G +1 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 993949	NM_001267550.2(TTN):c.68149del (p.Arg22717fs)	LOC126806423, TTN +1 more (R13652fs +5 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 681486	NM_001267550.2(TTN):c.68140T>C (p.Tyr22714His)	LOC126806423, TTN +1 more (Y13841H +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2631297	NM_001267550.2(TTN):c.68137G>T (p.Glu22713Ter)	LOC126806423, TTN +1 more (E13648* +5 more)	Single nucleotide variant (nonsense)	TTN-related disorder	GLikely pathogenic
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

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