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Results: 16

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
ATXN3not specifiedGO-ESP:0.16262(G)
GMAF:0.27600(G)
Likely benignclassified by single submitter1492071010
2.
ATXN3not providedUncertain significance
(Mar 6, 2014)
classified by single submitter1492071035
3.
ATXN3not specifiedLikely benignclassified by single submitter1492071043
4.
ATXN3not specifiedLikely benignclassified by single submitter1492071044
5.
ATXN3not specifiedGO-ESP:0.27287(T)
GMAF:0.32510(T)
Likely benignclassified by single submitter1492082441
6.
ATXN3not specifiedGO-ESP:0.54160(A)
GMAF:0.43330(G)
Likely benignclassified by single submitter1492083242
7.
ATXN3Parkinson disease, late-onset, Azorean diseasePathogenic, risk factor
(Apr 10, 2013)
classified by single submitter1492071011 - 92071013
8.
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1490255156 - 95274696
9.
SERPINA3, ACYP1, BDKRB1, BDKRB2, CALM1, SERPINA6, ENTPD5, FOXN3, CHGA, DIO2, DLST, ESRRB, FOS, GALC, GSTZ1, GTF2A1, IFI27, ITPK1, LTBP2, ATXN3, ALDH6A1, NDUFB1, SERPINA5, PGF, SERPINA1, SERPINA4, LGMN, PSEN1, PSMC1, ABCD4, SEL1L, TGFB3, TSHR, VRK1, DPF3, GPR68, TCL1A, GPR65, NUMB, CCNK, ALKBH1, EIF2B2, PNMA1, RPS6KA5, TRIP11, NRXN3, SPTLC2, TCL1B, AREL1, GOLGA5, FBLN5, BATF, NPC2, AHSA1, PAPOLA, ACOT2, TMED10, PTPN21, C14orf1, VASH1, SNW1, TTLL5, ANGEL1, DICER1, FLRT2, DCAF4, TMEM251, TCL6, MLH3, FOXN3-AS2, POMT2, COQ6, FCF1, SERPINA10, GLRX5, GSKIP, ASB2, ZFYVE1, CPSF2, KCNK10, NRDE2, ATG2B, UBR7, VRTN, FLVCR2, GPATCH2L, SMEK1, BTBD7, TDP1, SPATA7, YLPM1, KCNK13, C14orf132, DDX24, ADCK1, TMEM63C, UNC79, PPP4R4, ZNF410, NGB, RBM25, VIPAS39, MOAP1, IRF2BPL, BCL11B, OTUB2, LINC00341, ZC2HC1C, C14orf169, CLMN, CATSPERB, ZC3H14, RIN3, C14orf159, CCDC176, SLIRP, DNAL1, RPS6KL1, IFI27L2, SETD3, C14orf142, STON2, , PAPLN, FAM181A, EFCAB11, ELMSAN1, LIN52, NEK9, IFT43, AK7, IFI27L1, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, LINC00618, GSC, SERPINA12, PRIMA1, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, TTC7B, SYNE3, SAMD15, EML5, LINC00521, SERPINA11, PROX2, LOC283575, ZDHHC22, TMED8, C14orf178, LOC283585, LINC01146, FAM181A-AS1, SNHG10, C14orf177, CCDC85C, ITPK1-AS1, SERPINA9, VSX2, COX8C, LINC01550, , HEATR4, FOXN3-AS1, LINC00642, DICER1-AS1, CCDC88C, ACOT1, ACOT6, SYNDIG1L, SCARNA13, SNORA79, LOC730202, LINC01220, SNORA11B, LOC100129345, TRA-AGC15-1, TRC-GCA8-1, MIR1260A, MIR3173, LOC100506476, LOC100506603, LOC100506700, TUNAR, MIR4506, MIR4505, MIR4709, DIO2-AS1, LINC00911, LINC01467, LOC101928767, LOC101928791, LOC101928909, LOC101929080, LOC101929241, MIR7641-2, LOC102724153, LOC102724190
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1472787506 - 99596719
10.
SERPINA3, AKT1, BDKRB1, BDKRB2, SERPINA6, CHGA, CKB, CRIP1, CRIP2, DIO3, DYNC1H1, EIF5, EML1, BRF1, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, MARK3, ATXN3, NDUFB1, SERPINA5, SERPINA1, SERPINA4, PPP2R5C, LGMN, MOK, TNFAIP2, TRAF3, VRK1, WARS, XRCC3, YY1, TCL1A, DLK1, CCNK, MTA1, TRIP11, BAG5, C14orf2, CDC42BPB, TCL1B, KIAA0125, TECPR2, GOLGA5, FBLN5, SIVA1, CYP46A1, PAPOLA, RCOR1, PACS2, PPP1R13B, DICER1, KIF26A, TMEM251, TCL6, IGHV6-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, GPR132, SERPINA10, GLRX5, EVL, GSKIP, CINP, ASB2, CPSF2, CDCA4, ATG2B, UBR7, MEG3, SMEK1, BTBD7, ZNF839, C14orf132, DDX24, UNC79, BEGAIN, PPP4R4, MOAP1, DIO3OS, INF2, BCL11B, OTUB2, ZFYVE21, MEG8, WDR25, LINC00341, CLMN, CATSPERB, RIN3, TMEM121, AMN, IFI27L2, SETD3, APOPT1, HHIPL1, C14orf142, FAM181A, BTBD6, EXOC3L4, WDR20, AHNAK2, TRMT61A, TDRD9, ANKRD9, AK7, IFI27L1, C14orf79, PLD4, ADSSL1, TC2N, SLC24A4, SLC25A29, DEGS2, LINC00239, LINC00637, LINC00618, GSC, SERPINA12, PRIMA1, SYNE3, LINC00638, NUDT14, LINC00521, SERPINA11, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, CEP170B, C14orf80, C14orf99, CCDC85C, ITPK1-AS1, SERPINA9, LINC00524, LINC00226, LINC00221, COX8C, ASPG, MIR381HG, LINC01550, RTL1, TMEM179, , DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR299, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORD112, MIR411, MIR654, MIR655, MIR656, LOC730202, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, MIR300, MIR541, MIR665, MIR543, MIR889, ZBTB42, LOC100129345, LINC00605, TRI-AAT5-1, MIR1247, MIR1185-1, MIR1185-2, MIR1197, MIR1193, MIR4309, MIR3173, TUNAR, SNHG23, MEG9, LOC100507437, MIR4507, MIR4506, MIR203B, MIR151B, MIR4538, MIR4710, MIR4539, MIR4537, MIR2392, LOC101929080, LOC101929241, SNHG24, MIR6765, MIR8071-1, MIR6764, MIR8071-2, LOC102723354
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1491455861 - 106832642
11.
SERPINA3, AKT1, BDKRB1, BDKRB2, CALM1, SERPINA6, FOXN3, CHGA, CKB, CRIP1, CRIP2, DIO3, DYNC1H1, EIF5, EML1, GALC, BRF1, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, MARK3, ATXN3, NDUFB1, SERPINA5, SERPINA1, SERPINA4, PPP2R5C, LGMN, PSMC1, MOK, TNFAIP2, TRAF3, VRK1, WARS, XRCC3, YY1, GPR68, TCL1A, GPR65, DLK1, CCNK, MTA1, RPS6KA5, TRIP11, BAG5, C14orf2, CDC42BPB, TCL1B, KIAA0125, TECPR2, GOLGA5, FBLN5, SIVA1, CYP46A1, PAPOLA, PTPN21, RCOR1, PACS2, PPP1R13B, DICER1, KIF26A, TMEM251, TCL6, IGHV6-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, FOXN3-AS2, GPR132, SERPINA10, GLRX5, EVL, GSKIP, CINP, ASB2, CPSF2, KCNK10, CDCA4, NRDE2, ATG2B, UBR7, MEG3, SMEK1, BTBD7, TDP1, ZNF839, SPATA7, KCNK13, C14orf132, DDX24, UNC79, BEGAIN, PPP4R4, MOAP1, DIO3OS, INF2, BCL11B, OTUB2, ZFYVE21, MEG8, WDR25, LINC00341, CLMN, CATSPERB, ZC3H14, RIN3, C14orf159, TMEM121, AMN, IFI27L2, SETD3, APOPT1, HHIPL1, C14orf142, FAM181A, BTBD6, EFCAB11, EXOC3L4, WDR20, AHNAK2, TRMT61A, TDRD9, ANKRD9, AK7, IFI27L1, C14orf79, PLD4, ADSSL1, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, LINC00239, LINC00637, LINC00618, GSC, SERPINA12, PRIMA1, TTC7B, SYNE3, EML5, LINC00638, NUDT14, LINC00521, SERPINA11, LOC283585, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, CEP170B, C14orf80, C14orf99, CCDC85C, ITPK1-AS1, SERPINA9, LINC00524, LINC00226, LINC00221, COX8C, ASPG, MIR381HG, LINC01550, RTL1, TMEM179, , FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR299, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORD112, MIR411, MIR654, MIR655, MIR656, LOC730202, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR889, ZBTB42, LOC100129345, LINC00605, TRA-AGC15-1, TRI-AAT5-1, MIR1247, MIR1185-1, MIR1185-2, MIR1197, MIR1193, MIR4309, MIR3173, TUNAR, SNHG23, MEG9, LOC100507437, MIR4507, MIR4506, MIR203B, MIR151B, MIR4538, MIR4710, MIR4539, MIR4537, MIR2392, LOC101928767, LOC101928791, LOC101928909, LOC101929080, LOC101929241, SNHG24, MIR6765, MIR8071-1, MIR6764, MIR8071-2, LOC102723354
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1486094030 - 106832642
12.
SERPINA3, AKT1, BDKRB1, BDKRB2, CALM1, SERPINA6, FOXN3, CHGA, CKB, CRIP1, CRIP2, DIO3, DYNC1H1, EIF5, EML1, GALC, BRF1, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, MARK3, ATXN3, NDUFB1, SERPINA5, SERPINA1, SERPINA4, PPP2R5C, LGMN, PSMC1, MOK, TNFAIP2, TRAF3, VRK1, WARS, XRCC3, YY1, GPR68, TCL1A, GPR65, DLK1, CCNK, MTA1, RPS6KA5, TRIP11, BAG5, C14orf2, CDC42BPB, TCL1B, KIAA0125, TECPR2, GOLGA5, FBLN5, SIVA1, CYP46A1, PAPOLA, PTPN21, RCOR1, PACS2, PPP1R13B, DICER1, FLRT2, KIF26A, TMEM251, TCL6, IGHV6-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, FOXN3-AS2, GPR132, SERPINA10, GLRX5, EVL, GSKIP, CINP, ASB2, CPSF2, KCNK10, CDCA4, NRDE2, ATG2B, UBR7, MEG3, SMEK1, BTBD7, TDP1, ZNF839, SPATA7, KCNK13, C14orf132, DDX24, UNC79, BEGAIN, PPP4R4, MOAP1, DIO3OS, INF2, BCL11B, OTUB2, ZFYVE21, MEG8, WDR25, LINC00341, CLMN, CATSPERB, ZC3H14, RIN3, C14orf159, TMEM121, AMN, IFI27L2, SETD3, APOPT1, HHIPL1, C14orf142, FAM181A, BTBD6, EFCAB11, EXOC3L4, WDR20, AHNAK2, TRMT61A, TDRD9, ANKRD9, AK7, IFI27L1, C14orf79, PLD4, ADSSL1, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, LINC00239, LINC00637, LINC00618, GSC, SERPINA12, PRIMA1, TTC7B, SYNE3, EML5, LINC00638, NUDT14, LINC00521, SERPINA11, LOC283585, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, CEP170B, C14orf80, C14orf99, CCDC85C, ITPK1-AS1, SERPINA9, LINC00524, LINC00226, LINC00221, COX8C, ASPG, MIR381HG, LINC01550, RTL1, TMEM179, , FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR299, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORD112, MIR411, MIR654, MIR655, MIR656, LOC730202, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR889, ZBTB42, LOC100129345, LINC00605, TRA-AGC15-1, TRI-AAT5-1, MIR1247, MIR1185-1, MIR1185-2, MIR1197, MIR1193, MIR4309, MIR3173, TUNAR, SNHG23, MEG9, LOC100507437, MIR4507, MIR4506, MIR203B, MIR151B, MIR4538, MIR4710, MIR4539, MIR4537, MIR2392, MIR5195, LINC00911, LOC101928767, LOC101928791, LOC101928909, LOC101929080, LOC101929241, SNHG24, MIR6765, MIR8071-1, MIR6764, MIR8071-2, LOC102723354
See casesPathogenic
(Aug 12, 2011)
classified by single submitter1483912345 - 106855405
13.
SERPINA3, AKT1, BDKRB1, BDKRB2, CALM1, SERPINA6, FOXN3, CHGA, CKB, CRIP1, CRIP2, DIO2, DIO3, DYNC1H1, EIF5, EML1, GALC, GSTZ1, GTF2A1, BRF1, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, MARK3, ATXN3, NDUFB1, SERPINA5, SERPINA1, SERPINA4, PPP2R5C, LGMN, PSMC1, MOK, SEL1L, TNFAIP2, TRAF3, TSHR, VRK1, WARS, XRCC3, YY1, GPR68, TCL1A, GPR65, DLK1, CCNK, ALKBH1, MTA1, RPS6KA5, TRIP11, NRXN3, SPTLC2, BAG5, C14orf2, CDC42BPB, TCL1B, KIAA0125, TECPR2, GOLGA5, FBLN5, SIVA1, AHSA1, CYP46A1, PAPOLA, PTPN21, SNW1, RCOR1, PACS2, PPP1R13B, DICER1, FLRT2, KIF26A, TMEM251, TCL6, IGHV7-81, IGHV6-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, FOXN3-AS2, GPR132, POMT2, SERPINA10, GLRX5, EVL, GSKIP, CINP, ASB2, CPSF2, KCNK10, CDCA4, NRDE2, ATG2B, UBR7, MEG3, SMEK1, BTBD7, TDP1, ZNF839, SPATA7, KCNK13, C14orf132, DDX24, ADCK1, TMEM63C, UNC79, BEGAIN, PPP4R4, NGB, VIPAS39, MOAP1, DIO3OS, INF2, BCL11B, OTUB2, ZFYVE21, MEG8, WDR25, LINC00341, CLMN, CATSPERB, ZC3H14, RIN3, C14orf159, TMEM121, AMN, SLIRP, IFI27L2, SETD3, APOPT1, HHIPL1, C14orf142, STON2, FAM181A, BTBD6, EFCAB11, EXOC3L4, WDR20, AHNAK2, TRMT61A, TDRD9, ANKRD9, AK7, IFI27L1, C14orf79, PLD4, ADSSL1, NOXRED1, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, LINC00239, LINC00637, LINC00618, GSC, SERPINA12, PRIMA1, ISM2, CEP128, TTC7B, SYNE3, SAMD15, EML5, LINC00638, NUDT14, LINC00521, SERPINA11, TMED8, C14orf178, LOC283585, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, CEP170B, C14orf80, C14orf99, CCDC85C, ITPK1-AS1, SERPINA9, LINC00524, LINC00226, LINC00221, COX8C, ASPG, MIR381HG, LINC01550, RTL1, TMEM179, , FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR299, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORA79, SNORD112, MIR411, MIR654, MIR655, MIR656, LOC730202, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR889, ZBTB42, LOC100129345, LINC00605, TRA-AGC15-1, TRI-AAT5-1, MIR1247, MIR1185-1, MIR1185-2, MIR1260A, MIR1197, MIR1193, MIR4309, MIR3173, LOC100506700, TUNAR, SNHG23, MEG9, LOC100507437, MIR4507, MIR4506, MIR203B, MIR151B, MIR4538, MIR4710, MIR4539, MIR4537, MIR2392, DIO2-AS1, MIR5195, LINC00911, LINC01467, LOC101928767, LOC101928791, LOC101928909, LOC101929080, LOC101929241, SNHG24, MIR6765, MIR8071-1, MIR6764, MIR8071-2, LOC102723354
See casesPathogenic
(Apr 5, 2012)
classified by single submitter1477222795 - 106879298
14.
SERPINA3, ACYP1, AKT1, BDKRB1, BDKRB2, CALM1, SERPINA6, ENTPD5, FOXN3, CHGA, CKB, CRIP1, CRIP2, DIO2, DIO3, DLST, DYNC1H1, EIF5, EML1, ESRRB, FOS, GALC, GSTZ1, GTF2A1, BRF1, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, LTBP2, MARK3, ATXN3, ALDH6A1, NDUFB1, SERPINA5, PGF, SERPINA1, SERPINA4, PPP2R5C, LGMN, PSMC1, ABCD4, MOK, SEL1L, TGFB3, TNFAIP2, TRAF3, TSHR, VRK1, WARS, XRCC3, YY1, GPR68, TCL1A, GPR65, DLK1, CCNK, ALKBH1, EIF2B2, MTA1, PNMA1, RPS6KA5, TRIP11, NRXN3, SPTLC2, BAG5, C14orf2, CDC42BPB, TCL1B, KIAA0125, AREL1, TECPR2, GOLGA5, FBLN5, BATF, SIVA1, NPC2, AHSA1, CYP46A1, PAPOLA, TMED10, PTPN21, C14orf1, VASH1, SNW1, TTLL5, RCOR1, PACS2, ANGEL1, PPP1R13B, DICER1, FLRT2, KIF26A, TMEM251, TCL6, MLH3, IGHV7-81, IGHV6-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, FOXN3-AS2, GPR132, POMT2, COQ6, FCF1, SERPINA10, GLRX5, EVL, GSKIP, CINP, ASB2, CPSF2, KCNK10, CDCA4, NRDE2, ATG2B, UBR7, VRTN, MEG3, FLVCR2, GPATCH2L, SMEK1, BTBD7, TDP1, ZNF839, SPATA7, YLPM1, KCNK13, C14orf132, DDX24, ADCK1, TMEM63C, UNC79, BEGAIN, PPP4R4, ZNF410, NGB, VIPAS39, MOAP1, DIO3OS, IRF2BPL, INF2, BCL11B, OTUB2, ZFYVE21, MEG8, WDR25, LINC00341, ZC2HC1C, CLMN, CATSPERB, ZC3H14, RIN3, C14orf159, CCDC176, TMEM121, AMN, SLIRP, DNAL1, RPS6KL1, IFI27L2, SETD3, APOPT1, HHIPL1, C14orf142, STON2, , FAM181A, BTBD6, EFCAB11, ELMSAN1, LIN52, NEK9, EXOC3L4, WDR20, IFT43, AHNAK2, TRMT61A, TDRD9, ANKRD9, AK7, IFI27L1, C14orf79, PLD4, ADSSL1, NOXRED1, JDP2, ISCA2, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, LINC00239, LINC00637, LINC00618, GSC, SERPINA12, PRIMA1, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, TTC7B, SYNE3, SAMD15, EML5, LINC00638, NUDT14, LINC00521, SERPINA11, PROX2, LOC283575, ZDHHC22, TMED8, C14orf178, LOC283585, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, CEP170B, C14orf80, C14orf99, CCDC85C, ITPK1-AS1, SERPINA9, LINC00524, LINC00226, LINC00221, VSX2, COX8C, ASPG, MIR381HG, LINC01550, RTL1, TMEM179, , FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR299, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, SYNDIG1L, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORA79, SNORD112, MIR411, MIR654, MIR655, MIR656, LOC730202, LINC01220, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR889, ZBTB42, LOC100129345, LINC00605, TRA-AGC15-1, TRI-AAT5-1, MIR1247, MIR1185-1, MIR1185-2, MIR1260A, MIR1197, MIR1193, MIR4309, MIR3173, LOC100506476, LOC100506603, LOC100506700, TUNAR, SNHG23, MEG9, LOC100507437, MIR4507, MIR4506, MIR4505, MIR203B, MIR4709, MIR151B, MIR4538, MIR4710, MIR4539, MIR4537, MIR2392, DIO2-AS1, MIR5195, LINC00911, LINC01467, LOC101928767, LOC101928791, LOC101928909, LOC101929080, LOC101929241, SNHG24, MIR6765, MIR7641-2, MIR8071-1, MIR6764, MIR8071-2, LOC102723354, LOC102724153, LOC102724190
See casesPathogenic
(Apr 30, 2010)
classified by single submitter1473655772 - 106879298
15.
SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, CTAGE5, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TRAV6, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-1, TRP-AGG2-3, TRP-AGG2-4, TRT-TGT3-1, TSHR, VRK1, WARS, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, NRXN3, AKAP6, AKAP5, SPTLC2, BAG5, C14orf2, CDC42BPB, TCL1B, RGS6, KIAA0391, , KIAA0586, DLGAP5, KIAA0125, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, C14orf1, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX, DAAM1, SAMD4A, TTLL5, FAM179B, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, RNU1-27P, RNU1-28P, TCL6, MLH3, ATP5S, KCNH5, CIDEB, IGHV6-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, FOXN3-AS2, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1L, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, C14orf166, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, C14orf105, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, DHRS4-AS1, G2E3, FLVCR2, OSGEP, GPATCH2L, SMEK1, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNXL4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, WDR25, VCPKMT, LINC00341, ZC2HC1C, C14orf169, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, C14orf159, CCDC176, NUBPL, DCAF11, TMEM121, DDHD1, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, APOPT1, HHIPL1, JPH4, C14orf142, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, STON2, ZFHX2, , RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, LRRC16B, PPP1R3E, TMEM55B, CHURC1, ELMSAN1, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, MIA2, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, C14orf79, PLD4, ADSSL1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, LINC00239, LINC00637, RDH12, LINC00618, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, C14orf37, FRMD6-AS1, ABHD12B, LOC145474, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, ACTN1-AS1, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, MDGA2, SAMD15, NOP9, EML5, SPTSSA, LINC00638, ADCY4, LINC01599, RALGAPA1, SFTA3, LOC254028, FBXO33, NUDT14, LINC00521, SERPINA11, LINC00639, LINC01588, LINC00640, GPR137C, UBE2L1, PROX2, LOC283575, ZDHHC22, TMED8, C14orf178, LOC283585, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, LINC00641, TSSK4, FAM177A1, CEP170B, C14orf80, C14orf99, DHRS4L2, C14orf39, CCDC85C, ITPK1-AS1, TTC6, SNORD8, SNORD56B, SERPINA9, LINC00524, LINC00226, LINC00221, RNASE10, VSX2, OR6S1, SLC35F4, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, MIR381HG, PSMA3-AS1, TBPL2, LINC01551, TOMM20L, LINC01550, RTL1, TMEM179, OR11G2, OR11H4, RNASE9, OR5AU1, , HEATR4, FLJ22447, PLEKHD1, FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR208A, MIR299, LINC00596, RNASE13, LINC00238, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, ACOT1, ACOT6, TMEM253, CBLN3, LOC644919, FUT8-AS1, LINC00520, LINC00643, SYNDIG1L, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORA79, SNORD9, SNORD112, MIR411, MIR624, MIR625, MIR654, MIR655, MIR656, DHRS4L1, CCDC175, LOC730202, LINC01220, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, TRY-GTA7-1, TRY-GTA5-2, SNORD127, SNORD126, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR208B, MIR889, LOC100128233, ZBTB42, KTN1-AS1, LOC100129345, SLC25A21-AS1, LINC00605, TRY-GTA5-3, TRP-TGG3-1, TRK-CTT1-1, TRA-AGC15-1, TRL-TAG2-1, TRR-ACG1-1, TRT-TGT5-1, TRI-AAT5-1, TRP-TGG1-1, TRC-GCA8-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-1, LOC100288846, LOC100289511, MIR1247, MIR1185-1, MIR1185-2, MIR1260A, MIR1197, OTX2-AS1, MIR548H1, MIR3171, MIR1193, MIR4309, MIR3173, MIR4308, MIR4307, MIR548Y, LINC00645, LOC100506071, NKX2-1-AS1, LOC100506321, LINC00871, LINC00648, LOC100506476, LOC100506499, LOC100506603, LOC100506700, TUNAR, SNHG23, MEG9, LOC100507437, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, SYNJ2BP-COX16, CHURC1-FNTB, MIR4507, MIR4506, MIR4505, MIR203B, MIR4708, MIR4709, MIR151B, MIR4504, MIR4538, MIR4503, MIR4710, MIR4539, MIR4537, MIR4707, MIR4706, MIR2392, DIO2-AS1, HIF1A-AS1, HIF1A-AS2, MIR5195, MIR5694, MIR5580, MIR5586, FRMD6-AS2, PTCSC3, LINC00911, LINC00609, LOC101926933, LOC101927045, LOC101927062, LOC101927081, LOC101927124, LOC101927178, LOC101927418, LOC101927620, LOC101927780, LOC101928075, LINC01467, LOC101928767, LOC101928791, LOC101928909, LOC101929080, LOC101929241, SNHG24, LOC101929718, LINC00644, RNU6-7, RNU6-8, MIR6076, MIR6717, MIR6765, MIR7641-2, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR6764, MIR8071-2, LOC102723354, LOC102723604, LINC01500, LOC102723809, LOC102724153, LOC102724190, LOC102724814, LOC102724890, FOXG1-AS1, LINC01269, SALRNA1, MHRT
See casesPathogenic
(Jan 27, 2011)
classified by single submitter1420151149 - 106855263
16.
SERPINA3, ACTN1, ACYP1, AKT1, ANG, APEX1, ARF6, ARG2, ARHGAP5, BCL2L2, BDKRB1, BDKRB2, BMP4, ZFP36L1, CALM1, SERPINA6, ENTPD5, CDKN3, CEBPE, CFL2, FOXN3, CHGA, CKB, CMA1, LTB4R, CRIP1, CRIP2, CTSG, DAD1, COCH, DIO2, DIO3, DLST, DYNC1H1, EIF2S1, EIF5, EML1, ERH, ESR2, ESRRB, FKBP3, FOXG1, FNTB, FOS, FUT8, GALC, GCH1, GMFB, GPR33, GPX2, GSTZ1, GTF2A1, BRF1, GZMH, GZMB, HIF1A, FOXA1, HNRNPC, HSPA2, HSP90AA1, IFI27, IGH, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, ITPK1, JAG2, KLC1, KTN1, LGALS3, LTBP2, MARK3, MAX, MGAT2, CTAGE5, ATXN3, MAP3K9, MMP14, ALDH6A1, MNAT1, MTHFD1, MYH6, MYH7, NDUFB1, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, SIX6, OTX2, OXA1L, PAX9, SERPINA5, PCK2, PGF, SERPINA1, SERPINA4, PIGH, PNN, POLE2, PPM1A, PPP2R5C, PPP2R5E, PRKCH, PRKD1, LGMN, PSEN1, PSMA3, PSMA6, PSMB5, PSMC1, PSMC6, PSME1, PSME2, PTGDR, PTGER2, ABCD4, PYGL, RABGGTA, RAD51B, MOK, ARID4A, RN7SL1, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, RPL36AL, RPS29, RTN1, SALL2, SEL1L, SRSF5, SIX1, SLC8A3, SLC10A1, SNAPC1, SOS2, SPTB, SRP54, SSTR1, STYX, TRA, TRAV6, TEP1, TGFB3, TGM1, NKX2-1, TNFAIP2, TRAF3, TRL-AAG2-1, TRP-AGG2-3, TRP-AGG2-4, TRT-TGT3-1, TSHR, VRK1, WARS, XRCC3, YY1, ZBTB25, PABPN1, DPF3, GPR68, TCL1A, GPR65, GEMIN2, NUMB, ADAM21, ADAM20, DLK1, CCNK, CDKL1, DCAF5, ALKBH1, EIF2B2, AP1G2, SLC7A7, MTA1, NEMF, PNMA1, RPS6KA5, TRIP11, CPNE6, NRXN3, AKAP6, AKAP5, SPTLC2, BAG5, C14orf2, CDC42BPB, TCL1B, RGS6, KIAA0391, , KIAA0586, DLGAP5, KIAA0125, AREL1, TOX4, TECPR2, GOLGA5, REC8, MED6, PARP2, CNIH1, DHRS2, GPHN, EFS, IRF9, PRMT5, SEC23A, VTI1B, FBLN5, BATF, TM9SF1, SIVA1, NPC2, AHSA1, EXOC5, CGRRF1, CYP46A1, EDDM3A, DHRS4, PAPOLA, ACOT2, TMED10, FERMT2, RIPK3, PTPN21, AP4S1, C14orf1, WDHD1, BAZ1A, MAP4K5, SUPT16H, NID2, VASH1, ATG14, ZBTB1, SNW1, ACIN1, PCNX, DAAM1, SAMD4A, TTLL5, FAM179B, RCOR1, SYNE2, PACS2, SCFD1, KHNYN, ANGEL1, PPP1R13B, DICER1, SLC7A8, ZFYVE26, TTC9, KLHDC2, FLRT2, HECTD1, HEATR5A, NGDN, LRP10, PLEKHG3, SIPA1L1, DCAF4, KIF26A, TMEM251, NKX2-8, TINF2, PLEK2, TIMM9, OR10G3, OR10G2, OR4E2, RNU1-27P, RNU1-28P, TCL6, MLH3, ATP5S, KCNH5, CIDEB, IGHV7-81, IGHV6-1, IGHV5-51, IGHV4-61, IGHV4-59, IGHV4-39, IGHV4-34, IGHV4-31, IGHV4-28, IGHV4-4, IGHV3-74, IGHV3-73, IGHV3-72, IGHV3-66, IGHV3-64, IGHV3-53, IGHV3-49, IGHV3-48, IGHV3-43, IGHV3-38, IGHV3-35, IGHV3-33, IGHV3-30, IGHV3-23, IGHV3-21, IGHV3-20, IGHV3-16, IGHV3-15, IGHV3-13, IGHV3-11, IGHV3-7, IGHV2-70, IGHV2-26, IGHV2-5, IGHV1-69, IGHV1-58, IGHV1-46, IGHV1-45, IGHV1-24, IGHV1-18, IGHV1-3, IGHV1-2, IGHJ6, IGHJ5, IGHJ4, IGHJ3, IGHJ2, IGHJ1, IGHD7-27, IGHD6-25, IGHD6-19, IGHD6-13, IGHD6-6, IGHD5-24, IGHD5-18, IGHD5-12, IGHD5-5, IGHD4-23, IGHD4-17, IGHD4-11, IGHD4-4, IGHD3-22, IGHD3-16, IGHD3-10, IGHD3-9, IGHD3-3, IGHD2-21, IGHD2-15, IGHD2-8, IGHD2-2, IGHD1-26, IGHD1-20, IGHD1-14, IGHD1-7, IGHD1-1, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, FOXN3-AS2, CHMP4A, STXBP6, GPR132, POMT2, STRN3, SLC39A2, ERO1L, COQ6, EMC9, ATL1, FCF1, RDH11, SERPINA10, NIN, GLRX5, ZNF219, COX16, GMPR2, SLC22A17, DACT1, ATP6V1D, EVL, GSKIP, JKAMP, CINP, MBIP, DHRS7, C14orf166, ASB2, SIX4, ZFYVE1, CPSF2, KCNK10, GNG2, KLHL28, TMEM260, HAUS4, PPP2R3C, PRPF39, C14orf119, FBXO34, CDCA4, NRDE2, RNF31, ATG2B, RBM23, UBR7, DNAAF2, C14orf105, EXD2, VRTN, MIS18BP1, SYNJ2BP, SLC39A9, MEG3, DHRS4-AS1, G2E3, FLVCR2, OSGEP, GPATCH2L, SMEK1, ARHGEF40, BTBD7, AP5M1, TDP1, ZNF839, SPATA7, EAPP, ACTR10, YLPM1, METTL3, LTB4R2, KCNK13, CCDC177, SDR39U1, C14orf132, DDX24, RPGRIP1, ADCK1, TMEM63C, PELI2, RHOJ, NDRG2, GALNT16, PLEKHH1, NYNRIN, TXNDC16, TRMT5, UNC79, HOMEZ, BEGAIN, CHD8, FANCM, PPP4R4, CCNB1IP1, ZNF410, NGB, RBM25, SNX6, SAV1, C14orf93, ABHD4, VIPAS39, NPAS3, SMOC1, MOAP1, DIO3OS, EDDM3B, IRF2BPL, MPP5, CDH24, INF2, PCNXL4, GPR135, METTL17, IL25, GNPNAT1, BCL11B, OTUB2, ZFYVE21, MEG8, THTPA, WDR25, VCPKMT, LINC00341, ZC2HC1C, C14orf169, IPO4, CLMN, CATSPERB, ZC3H14, RIN3, L2HGDH, C14orf159, CCDC176, NUBPL, DCAF11, TMEM121, DDHD1, SGPP1, TMX1, AMN, SLIRP, DNAL1, RPS6KL1, SYT16, IFI27L2, FSCB, SETD3, BRMS1L, APOPT1, HHIPL1, JPH4, C14orf142, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, STON2, ZFHX2, , RPPH1, SLC25A21, PAPLN, FAM181A, BTBD6, EFCAB11, LRRC16B, PPP1R3E, TMEM55B, CHURC1, ELMSAN1, LIN52, NEK9, EXOC3L4, WDR20, TTC5, MAPK1IP1L, EGLN3, DTD2, IFT43, WDR89, L3HYPDH, AHNAK2, TRIM9, TRMT61A, DHRS1, CMTM5, MIA2, TDRD9, ANKRD9, AK7, IFI27L1, C14orf28, TRAPPC6B, C14orf79, PLD4, ADSSL1, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4L1, OR11H6, LRR1, KLHDC1, FRMD6, SOCS4, NAA30, GPHB5, NOXRED1, JDP2, ISCA2, ACOT4, TTC8, TC2N, SLC24A4, SLC25A29, DEGS2, KLHL33, RPL10L, LINC00239, LINC00637, RDH12, LINC00618, GSC, SERPINA12, PRIMA1, MIPOL1, PPP1R36, SLC38A6, C14orf37, FRMD6-AS1, ABHD12B, LOC145474, PTGR2, FAM161B, LRRC74A, ISM2, CEP128, MDP1, TTC7B, LRFN5, FAM71D, TMEM229B, ACTN1-AS1, SYNE3, CLEC14A, FITM1, REM2, TMEM30B, MDGA2, SAMD15, NOP9, EML5, SPTSSA, LINC00638, ADCY4, LINC01599, RALGAPA1, SFTA3, LOC254028, FBXO33, NUDT14, LINC00521, SERPINA11, LINC00639, LINC01588, LINC00640, GPR137C, UBE2L1, PROX2, LOC283575, ZDHHC22, TMED8, C14orf178, LOC283585, LINC01146, FAM181A-AS1, SNHG10, C14orf177, SLC25A47, LINC00523, LINC00641, TSSK4, FAM177A1, CEP170B, C14orf80, C14orf99, DHRS4L2, C14orf39, CCDC85C, ITPK1-AS1, TTC6, SNORD8, SNORD56B, SERPINA9, LINC00524, LINC00226, LINC00221, RNASE10, VSX2, OR6S1, SLC35F4, COX8C, ASPG, RAB15, RN7SL2, RN7SL3, MIR381HG, PSMA3-AS1, TBPL2, LINC01551, TOMM20L, LINC01550, RTL1, TMEM179, OR4K17, OR4N5, OR11G2, OR11H4, RNASE9, OR5AU1, , HEATR4, FLJ22447, PLEKHD1, FOXN3-AS1, LINC00642, DICER1-AS1, C14orf180, MIR127, MIR134, MIR136, MIR154, MIR203A, MIR208A, MIR299, LINC00596, RNASE13, LINC00238, CCDC88C, MIR323A, MIR337, MIR342, MIR345, MIR376C, MIR369, MIR370, RNASE12, MIR376A1, MIR377, MIR379, MIR380, MIR381, MIR382, MIR433, MIR431, MIR329-1, MIR329-2, MIR323B, MIR409, MIR412, MIR410, MIR376B, MIR485, MIR493, MIR432, MIR494, MIR495, MIR496, MIR487A, ACOT1, ACOT6, TMEM253, CBLN3, LOC644919, FUT8-AS1, LINC00520, LINC00643, SYNDIG1L, RD3L, TEX22, MIR539, MIR544A, MIR376A2, MIR487B, SCARNA13, SNORA28, SNORA79, SNORD9, SNORD112, MIR411, MIR624, MIR625, MIR654, MIR655, MIR656, DHRS4L1, CCDC175, LOC730202, LINC01220, SNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-30, SNORD114-31, MIR758, MIR668, MIR770, TRY-GTA7-1, TRY-GTA5-2, SNORD127, SNORD126, SNORA11B, MIR300, MIR541, MIR665, MIR543, MIR208B, MIR889, LOC100128233, ZBTB42, KTN1-AS1, LOC100129345, SLC25A21-AS1, LINC00605, TRY-GTA5-3, TRP-TGG3-1, TRK-CTT1-1, TRA-AGC15-1, TRL-TAG2-1, TRR-ACG1-1, TRT-TGT5-1, TRI-AAT5-1, TRP-TGG1-1, TRC-GCA8-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-1, LOC100288846, LOC100289511, MIR1247, MIR1185-1, MIR1185-2, MIR1260A, MIR1197, OTX2-AS1, MIR548H1, MIR3171, MIR1193, MIR4309, MIR3173, MIR4308, MIR4307, MIR548Y, LINC00645, LOC100506071, NKX2-1-AS1, LOC100506321, LINC00871, LINC00648, LOC100506476, LOC100506499, LOC100506603, LOC100506700, TUNAR, SNHG23, MEG9, LOC100507437, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, SYNJ2BP-COX16, CHURC1-FNTB, MIR4507, MIR4506, MIR4505, MIR203B, MIR4708, MIR4709, MIR151B, MIR4504, MIR4538, MIR4503, MIR4710, MIR4539, MIR4537, MIR4707, MIR4706, MIR2392, DIO2-AS1, HIF1A-AS1, HIF1A-AS2, MIR5195, MIR5694, MIR5580, MIR5586, FRMD6-AS2, PTCSC3, LINC00911, LINC00609, LOC101926933, LOC101927045, LOC101927062, LOC101927081, LOC101927124, LOC101927178, LOC101927418, LOC101927620, LOC101927780, LOC101928075, LINC01467, LOC101928767, LOC101928791, LOC101928909, LOC101929080, LOC101929241, SNHG24, LOC101929718, LINC00644, RNU6-7, RNU6-8, MIR6076, MIR6717, MIR6765, MIR7641-2, MIR7703, MIR7843, MIR7855, MIR8071-1, MIR6764, MIR8071-2, LOC102723354, LOC102723604, LINC01500, LOC102723809, LOC102724153, LOC102724190, LOC102724814, LOC102724890, FOXG1-AS1, LINC01269, SALRNA1, MHRT
See casesPathogenic
(Mar 24, 2014)
classified by single submitter1420043514 - 106877229

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