ClinVar Miner

Variants studied for autosomal trisomy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
61 2 9 0 3 1 76

Gene and significance breakdown #

Total genes and gene combinations: 44
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
PMP22 10 1 2 0 1 14
FLCN 1 1 4 0 0 6
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 4 0 0 0 0 4
CTDP1 1 0 0 3 0 4
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 3 0 0 0 0 3
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TUBA8, TXNRD2, UFD1, USP18, USP41, ZDHHC8, ZNF74 2 0 0 0 0 2
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 2 0 0 0 0 2
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 2 0 0 0 0 2
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 2 0 0 0 0 2
ATP10A, GABRA5, GABRB3, GABRG3, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 2 0 0 0 0 2
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 2
LMNB1 1 0 1 0 0 2
​intergenic 1 0 0 0 0 1
AATF, ACACA, C17orf78, CCL3L1, CCL3L3, CCL4L1, CCL4L2, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, TBC1D3B, TBC1D3C, TBC1D3H, ZNHIT3 1 0 0 0 0 1
ABCA3, ADCY9, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf91, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, CREBBP, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, HAGH, HAGHL, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MLST8, MMP25, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDIA2, PDPK1, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLC9A3R2, SLX4, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TMEM8A, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 1 0 0 0 0 1
ABR, BHLHA9, CRK, LOC112529892, TRARG1, YWHAE 1 0 0 0 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 1
ACP6, ADAMTSL4, ANKRD34A, ANKRD35, ANP32E, ANXA9, APH1A, ARNT, BCL9, BNIPL, BOLA1, C1orf54, C1orf56, C1orf68, C2CD4D, CA14, CD160, CDC42SE1, CELF3, CERS2, CGN, CHD1L, CIART, CRCT1, CRNN, CTSK, CTSS, ECM1, ENSA, FALEC, FAM72C, FCGR1A, FLG, FLG2, FMO5, GABPB2, GJA5, GJA8, GOLPH3L, GPR89A, GPR89B, H2AC18, H2AC19, H2AC20, H2AC21, H2BC18, H2BC21, H3C13, H3C14, H3C15, H4C14, H4C15, HJV, HORMAD1, HRNR, ITGA10, IVL, KPRP, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LINGO4, LIX1L, LYSMD1, MCL1, MINDY1, MLLT11, MRPL9, MRPS21, MTMR11, NBPF10, NBPF11, NBPF12, NBPF15, NOTCH2NLA, NUDT17, OAZ3, OTUD7B, PDE4DIP, PDZK1, PEX11B, PI4KB, PIAS3, PIP5K1A, PLEKHO1, POGZ, POLR3C, POLR3GL, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PRKAB2, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, RBM8A, RFX5, RIIAD1, RNF115, RORC, RPRD2, RPTN, S100A10, S100A11, SCNM1, SELENBP1, SEMA6C, SETDB1, SF3B4, SMCP, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SV2A, TARS2, TCHH, TCHHL1, TDRKH, THEM4, THEM5, TMOD4, TNFAIP8L2, TRH-GTG2-1, TRN-GTT2-1, TRN-GTT9-1, TRQ-CTG3-1, TUFT1, TXNIP, VPS45, VPS72, ZNF687 1 0 0 0 0 1
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, HJV, ITGA10, LIX1L, NBPF10, NBPF11, NBPF12, NOTCH2NLA, NUDT17, PDE4DIP, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PRKAB2, RBM8A, RNF115, TRN-GTT9-1, TRQ-CTG3-1, TXNIP 1 0 0 0 0 1
ACP6, ANKRD34A, ANKRD35, BCL9, CD160, CHD1L, FMO5, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NBPF11, NBPF12, NOTCH2NLA, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, PRKAB2, RBM8A, RNF115, TRN-GTT9-1, TRQ-CTG3-1, TXNIP 1 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2, TRN-GTT9-1, TRQ-CTG3-1 1 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GPR89A, NBPF11, NBPF12, PRKAB2, TRN-GTT9-1, TRQ-CTG3-1 1 0 0 0 0 1
ADA2, ARVCF, ATP6V1E1, BCL2L13, BID, C22orf39, CDC45, CECR2, CECR3, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GAB4, GNB1L, GP1BB, GSC2, HDHD5, HIRA, IL17RA, MICAL3, MRPL40, PEX26, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, SLC25A18, TANGO2, TBX1, TMEM121B, TRMT2A, TSSK2, TUBA8, TXNRD2, UFD1, USP18, XKR3, ZDHHC8 1 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1, USP18, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGT2, GGTLC3, GNB1L, GP1BB, GSC2, HIC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3, RIMBP3B, RIMBP3C, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TMEM191C, TRMT2A, TSSK2, TXNRD2, UBE2L3, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIFM3, ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LZTR1, MED15, MRPL40, P2RX6, PI4KA, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, TANGO2, TBX1, THAP7, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AIFM3, ARVCF, COMT, CRKL, DGCR6L, DGCR8, FAM230A, GGTLC3, GNB1L, KLHL22, LZTR1, MED15, P2RX6, PI4KA, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SERPIND1, SLC7A4, SNAP29, TANGO2, THAP7, TMEM191B, TRMT2A, TXNRD2, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2 1 0 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, SULT1A3, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 1
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, MAPK3, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 0 0 0 1
APBA2, ARHGAP11A, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, FAM189A1, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, GOLGA8N, GOLGA8O, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4N4, OTUD7A, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 1
APBA2, ARHGAP11B, ATP10A, CHRFAM7A, CHRNA7, CYFIP1, FAM189A1, FAN1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8H, GOLGA8J, GOLGA8M, HERC2, IPW, KLF13, MAGEL2, MIR211, MKRN3, MTMR10, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4N4, OTUD7A, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TRPM1, TUBGCP5, UBE3A 1 0 0 0 0 1
APBA2, ATP10A, CYFIP1, FAM189A1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L6, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, OR4M2, OR4N4, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TUBGCP5, UBE3A 1 0 0 0 0 1
APBA2, ATP10A, GABRA5, GABRB3, GABRG3, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 1 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TRMT2A, TSSK2, TXNRD2, UFD1, ZDHHC8 1 0 0 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6L, DGCR8, ESS2, FAM230A, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, KLHL22, MED15, MRPL40, PI4KA, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SCARF2, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 0 1
ASPHD1, C16orf54, CDIPT, KCTD13, KIF22, MAZ, MVP, PAGR1, PRRT2, SEZ6L2, ZG16 1 0 0 0 0 1
ATP10A, CYFIP1, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA6L6, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, OCA2, OR4M2, OR4N4, POTEB, POTEB2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TUBGCP5, UBE3A 1 0 0 0 0 1
AUTS2 0 0 1 0 0 1
BTRC, DPCD, FBXW4, FGF8, KAZALD1, LBX1, NPM3, OGA, POLL, TLX1, TLX1NB 1 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 1
GATA1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Baylor Miraca Genetics Laboratories, 38 0 0 0 0 38
Fulgent Genetics,Fulgent Genetics 1 1 7 0 0 9
OMIM 8 0 0 0 0 8
GeneReviews 7 0 0 0 0 7
Athena Diagnostics Inc 3 1 0 0 0 4
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 4 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Limoges University Hospital Laboratory,Limoges University Hospital 1 0 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.