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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr21:15499847-48090317
GRCh38:
Chr21:7749532-46670405
ADARB1, AIRE, APP, ATP5PF, ATP5PO, BACH1, PTTG1IP, CFAP410, TMEM50B, RUNX1, CBR1, CBR3, CBS, COL6A1, COL6A2, CRYAA, CSTB, CXADR, DSCAM, RCAN1, DYRK1A, ERG, ETS2, GABPA, GART, GRIK1, HLCS, HMGN1, PRMT2, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITGB2, KCNE1, KCNJ6, KCNJ15, LSS, MX1, MX2, NCAM2, NDUFV3, PCNT, PCP4, PDE9A, PFKL, PKNOX1, TMPRSS15, PWP2, S100B, SH3BGR, ITSN1, SIM2, SLC5A3, SLC19A1, SUMO3, SOD1, SON, HSPA13, TFF1, TFF2, TFF3, TIAM1, TRAPPC10, TMPRSS2, TPTE, TRPM2, TTC3, U2AF1, UBE2G2, GET1, NRIP1, CHAF1B, GATD3, PDXK, RRP1, PSMG1, SYNJ1, MCM3AP, CLDN8, ADAMTS1, ABCG1, URB1, CRYZL1, DOP1B, KCNE2, RWDD2B, OLIG2, DSCR4, VPS26C, B3GALT5, USP16, CCT8, WDR4, FTCD, BTG3, HSF2BP, ADAMTS5, RRP1B, C2CD2, DIP2A, POFUT2, ICOSLG, MORC3, CLDN14, BACE2, LTN1, CLDN17, N6AMT1, USP25, DNMT3L, DONSON, HUNK, ZBTB21, PIGP, UBASH3A, RIPPLY3, BRWD1, SLC37A1, RBM11, PCBP3, C21orf58, YBEY, LINC00160, SMIM11, C21orf62-AS1, MIS18A, LINC00158, CHODL-AS1, TSPEAR-AS1, LRRC3DN, TSPEAR, LINC00113, LINC00112, LINC00111, SETD4, FAM3B, RIPK4, CLIC6, LINC00308, H2BS1, BACH1-IT3, MRPL39, C21orf91, DNAJC28, C21orf62, MRAP, CFAP298, AGPAT3, MAP3K7CL, SCAF4, JAM2, EVA1C, PRDM15, SAMSN1, TMPRSS3, MRPS6, RUNX1-IT1, COL18A1, LRRC3, SPATC1L, LINC01547, DSCR8, URB1-AS1, BAGE2, SLX9, RSPH1, UMODL1, ERVH48-1, PAXBP1, LINC00310, LINC00313, B3GALT5-AS1, LINC00334, TSPEAR-AS2, MCM3AP-AS1, MIR155HG, CYYR1, OLIG1, LINC00161, KRTAP13-1, TCP10L, CHODL, LIPI, TIAM1-AS1, LCA5L, IGSF5, SIK1, LINC00479, ZNF295-AS1, UMODL1-AS1, PLAC4, LINC00189, C21orf91-OT1, LINC00315, LINC00314, KRTAP15-1, DSCR9, DSCR10, D21S2088E, LINC00307, LINC00515, LINC01697, KRTAP13-4, LINC00323, LINC00319, AATBC, POTED, KRTAP7-1, KRTAP8-1, KRTAP11-1, KRTAP19-1, KRTAP13-2, KRTAP13-3, KRTAP23-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP20-1, KRTAP20-2, KRTAP21-1, KRTAP21-2, KRTAP22-1, KRTAP20-3, LINC01692, KRTAP12-2, KRTAP12-1, KRTAP10-10, PICSAR, LINC00317, COL18A1-AS1, KRTAP10-4, KRTAP10-6, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-11, KRTAP10-2, KRTAP10-5, KRTAP10-8, KRTAP10-3, KRTAP12-3, KRTAP12-4, KRTAP10-12, LINC00320, LOC388813, MIR99AHG, KRTAP26-1, SMIM34, LINC00316, LINC00114, LOC400867, MIRLET7C, MIR125B2, MIR155, MIR99A, LINC01667, LINC00205, GRIK1-AS1, KRTAP24-1, KRTAP27-1, SNORA80A, LINC00163, LINC00165, KRTAP19-8, LINC01548, MIR802, LINC00322, PCBP3-AS1, KRTAP25-1, CBR1-AS1, KRTAP20-4, TRG-GCC1-5, KRTAP22-2, KRTAP21-3, IL10RB-DT, GRIK1-AS2, MIR4327, MIR548X, MIR3118-1, MIR3156-3, MIR3197, MIR3687-1, MIR3648-1, ITGB2-AS1, LINC01549, PAXBP1-AS1, LINC00649, LINC01426, LOC100506403, CBR3-AS1, DSCAM-AS1, LINC00159, MIR4760, MIR4759, MIR5692B, FTCD-AS1, LRRC3-DT, DIP2A-IT1, TTC3-AS1, BRWD1-AS1, SAMSN1-AS1, MIS18A-AS1, COL18A1-AS2, BACH1-IT2, DSCAM-IT1, CYYR1-AS1, LINC01436, MIR548XHG, LINC01425, LINC01687, LINC01689, LINC01695, LOC101928107, LOC101928126, C21orf140, LOC101928212, LINC01671, LOC101928269, PDE9A-AS1, LINC01668, LOC101928398, LINC01679, LINC01700, TRPM2-AS, LINC01424, LOC101928796, RSPH1-DT, LINC00945, MIR6070, MIR6501, MIR6724-1, MIR6814, MIR6815, MIR6130, MIR6508, FAM243B, KCNE1B, SMIM11B, LINC01674, SOD1-DT, LINC01690, LINC01423, BRWD1-AS2, MIR6724-2, MIR3687-2, MIR3648-2, MIR6724-4, MIR8069, MIR6724-3, SETD4-AS1, LOC105369306, LINC01666, LINC01683, LINC01684, LINC01673, MRAP-AS1, LOC105372795, KCNJ6-AS1, PCSEAT, DNMT3L-AS1, LINC01694, LOC105377134, LINC01678, LOC105379514, FRGCA, RNA45SN1, RNA18SN1, RNA5-8SN1, RNA28SN1, SNORA91, GET1-SH3BGR, LOC107403075, LOC107403153, LOC107548109, LOC107548111, SMIM34B, LINC02246, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, SNORD74B, SNORD159, LOC109648314, LOC109648316, LOC109648317, RNA45SN2, RNA18SN2, RNA5-8SN2, RNA28SN2, RNA45SN3, RNA18SN3, RNA5-8SN3, RNA28SN3, CFAP298-TCP10L, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, BTG3-AS1, LOC111099027, LOC111099028, LOC111188161, LINC02573, LINC02575, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, MIR10396B, MIR10396A, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflictsVCV000160886
2.
GRCh37:
Chr21:15006458-48097372
GRCh38:
Chr21:7749532-46677460
IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1, AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG
See casesPathogenic
(Feb 11, 2016)
no assertion criteria providedVCV000155309
3.
GRCh37:
Chr21:14386013-48097372
GRCh38:
Chr21:7749532-46677460
LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1, AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163
See casesPathogenic
(Apr 2, 2013)
no assertion criteria providedVCV000155093
4.
GRCh37:
Chr21:15006457-48097372
GRCh38:
Chr21:7749532-46677460
ABCG1, AATBC, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1
See casesPathogenic
(Dec 3, 2013)
no assertion criteria providedVCV000155053
5.
GRCh37:
Chr21:28285299-48097372
GRCh38:
Chr21:7749532-46677460
AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1
See casesUncertain significance
(Jun 11, 2013)
no assertion criteria providedVCV000153438
6.
GRCh37:
Chr21:14577835-48118159
GRCh38:
Chr21:7749532-46698247
AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000152839
7.
GRCh37:
Chr21:14577894-48090258
GRCh38:
Chr21:7749532-46670346
AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151388
8.
GRCh37:
Chr21:15451032-48090972
GRCh38:
Chr21:7749532-46671060
AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1
See casesPathogenic
(Feb 13, 2013)
no assertion criteria providedVCV000149418
9.
GRCh37:
Chr21:10944001-48090972
GRCh38:
Chr21:7749532-46671060
AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BAGE3, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1
See casesPathogenic
(Mar 9, 2012)
no assertion criteria providedVCV000149160
10.
GRCh37:
Chr21:10697897-48090972
GRCh38:
Chr21:7749532-46671060
AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BAGE3, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1
See casesPathogenic
(Apr 8, 2011)
no assertion criteria providedVCV000148262
11.
GRCh37:
Chr21:35319225-48090972
GRCh38:
Chr21:7749532-46671060
DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1, AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4
See casesPathogenic
(Mar 9, 2012)
no assertion criteria providedVCV000148180
12.
GRCh37:
Chr21:15499847-48080911
GRCh38:
Chr21:7749532-46660999
AATBC, ABCG1, ADAMTS1, ADAMTS5, ADARB1, AGPAT3, AIRE, APP, ATP5PF, ATP5PO, B3GALT5, B3GALT5-AS1, BACE2, BACH1, BACH1-IT2, BACH1-IT3, BAGE2, BRWD1, BRWD1-AS1, BRWD1-AS2, BTG3, BTG3-AS1, C21orf140, C21orf58, C21orf62, C21orf62-AS1, C21orf91, C21orf91-OT1, C2CD2, CBR1, CBR1-AS1, CBR3, CBR3-AS1, CBS, CCT8, CFAP298, CFAP298-TCP10L, CFAP410, CHAF1B, CHODL, CHODL-AS1, CLDN14, CLDN17, CLDN8, CLIC6, COL18A1, COL18A1-AS1, COL18A1-AS2, COL6A1, COL6A2, CRYAA, CRYZL1, CSTB, CXADR, CYYR1, CYYR1-AS1, D21S2088E, DIP2A, DIP2A-IT1, DNAJC28, DNMT3L, DNMT3L-AS1, DONSON, DOP1B, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ERVH48-1, ETS2, EVA1C, FAM3B, FRGCA, FTCD, FTCD-AS1, GABPA, GART, GATD3, GET1, GET1-SH3BGR, GRIK1, GRIK1-AS1, GRIK1-AS2, H2BS1, HLCS, HMGN1, HSF2BP, HSPA13, HUNK, ICOSLG, IFNAR1, IFNAR2, IFNGR2, IGSF5, IL10RB, IL10RB-DT, ITGB2, ITGB2-AS1, ITSN1, JAM2, KCNE1, KCNE2, KCNJ15, KCNJ6, KCNJ6-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP13-2, KRTAP13-3, KRTAP13-4, KRTAP15-1, KRTAP19-1, KRTAP19-2, KRTAP19-3, KRTAP19-4, KRTAP19-5, KRTAP19-6, KRTAP19-7, KRTAP19-8, KRTAP20-1, KRTAP20-2, KRTAP20-3, KRTAP20-4, KRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP22-1, KRTAP22-2, KRTAP23-1, KRTAP24-1, KRTAP25-1, KRTAP26-1, KRTAP27-1, KRTAP6-1, KRTAP6-2, KRTAP6-3, KRTAP7-1, KRTAP8-1, LCA5L, LINC00111, LINC00112, LINC00113, LINC00114, LINC00158, LINC00159, LINC00160, LINC00161, LINC00163, LINC00165, LINC00189, LINC00205, LINC00307, LINC00308, LINC00310, LINC00313, LINC00314, LINC00315, LINC00316, LINC00317, LINC00319, LINC00320, LINC00322, LINC00323, LINC00334, LINC00479, LINC00515, LINC00649, LINC00945, LINC01423, LINC01424, LINC01425, LINC01426, LINC01436, LINC01547, LINC01548, LINC01549, LINC01666, LINC01667, LINC01668, LINC01671, LINC01673, LINC01674, LINC01678, LINC01679, LINC01683, LINC01684, LINC01687, LINC01689, LINC01690, LINC01692, LINC01694, LINC01695, LINC01697, LINC01700, LINC02246, LINC02573, LINC02575, LIPI, LOC100506403, LOC101928107, LOC101928126, LOC101928212, LOC101928269, LOC101928398, LOC101928796, LOC102723451, LOC102723475, LOC102723553, LOC105369306, LOC105372795, LOC105377134, LOC105379514, LOC107403075, LOC107403153, LOC107548109, LOC107548111, LOC107983987, LOC108251799, LOC108254685, LOC108281139, LOC108281150, LOC108281151, LOC108281168, LOC109029533, LOC109648314, LOC109648316, LOC109648317, LOC110121331, LOC110121341, LOC110121350, LOC110121368, LOC110121385, LOC110121395, LOC110121429, LOC110121448, LOC110121481, LOC110121495, LOC110121500, LOC111099027, LOC111099028, LOC111188161, LOC111556145, LOC112694732, LOC112694733, LOC112694734, LOC112694735, LOC112694736, LOC112694740, LOC112694741, LOC112694744, LOC112694745, LOC112694746, LOC112694747, LOC112694748, LOC112694749, LOC112694750, LOC112694751, LOC112694752, LOC112694753, LOC112694754, LOC114004360, LOC114827853, LOC116309120, LOC116309121, LOC116309122, LOC116309123, LOC116309124, LOC116309125, LOC117134604, LOC117134605, LOC117134606, LOC117134607, LOC117134608, LOC117134611, LOC117135104, LOC117135105, LOC117135106, LOC119230225, LOC119266102, LOC120807613, LOC388813, LOC400867, LRRC3, LRRC3-DT, LRRC3DN, LSS, LTN1, MAP3K7CL, MCM3AP, MCM3AP-AS1, MIR10396A, MIR10396B, MIR125B2, MIR155, MIR155HG, MIR3118-1, MIR3156-3, MIR3197, MIR3648-1, MIR3648-2, MIR3687-1, MIR3687-2, MIR4327, MIR4759, MIR4760, MIR548X, MIR548XHG, MIR5692B, MIR6070, MIR6130, MIR6501, MIR6508, MIR6724-1, MIR6724-2, MIR6724-3, MIR6724-4, MIR6814, MIR6815, MIR802, MIR8069, MIR99A, MIR99AHG, MIRLET7C, MIS18A, MIS18A-AS1, MORC3, MRAP, MRAP-AS1, MRPL39, MRPS6, MX1, MX2, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PAXBP1, PAXBP1-AS1, PCBP3, PCBP3-AS1, PCNT, PCP4, PCSEAT, PDE9A, PDE9A-AS1, PDXK, PFKL, PICSAR, PIGP, PKNOX1, PLAC4, POFUT2, POTED, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RIPPLY3, RNA18SN1, RNA18SN2, RNA18SN3, RNA28SN1, RNA28SN2, RNA28SN3, RNA45SN1, RNA45SN2, RNA45SN3, RNA5-8SN1, RNA5-8SN2, RNA5-8SN3, RRP1, RRP1B, RSPH1, RSPH1-DT, RUNX1, RUNX1-IT1, RWDD2B, S100B, SAMSN1, SAMSN1-AS1, SCAF4, SETD4, SETD4-AS1, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SLX9, SMIM11, SMIM34, SNORA80A, SNORA91, SNORD159, SNORD74B, SOD1, SOD1-DT, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TFF1, TFF2, TFF3, TIAM1, TIAM1-AS1, TMEM50B, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRG-GCC1-5, TRPM2, TRPM2-AS, TSPEAR, TSPEAR-AS1, TSPEAR-AS2, TTC3, TTC3-AS1, U2AF1, UBASH3A, UBE2G2, UMODL1, UMODL1-AS1, URB1, URB1-AS1, USP16, USP25, VPS26C, WDR4, YBEY, ZBTB21, ZNF295-AS1
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146125
13.
GRCh37:
Chr21:34111831-48090258
GRCh38:
Chr21:7749532-46670346