ClinVar Miner

Variants studied for chromosome 1 disorder

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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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
48 8 8 2 1 3 69

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NFIA 8 8 5 1 1 0 23
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, PRKAB2 5 0 0 0 0 1 6
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF11, NBPF12, PRKAB2 4 0 0 0 0 0 4
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, NBPF12, PRKAB2 4 0 0 0 0 0 4
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PRKAB2 3 0 0 0 0 0 3
​intergenic 2 0 0 0 0 0 2
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 2 0 0 0 0 0 2
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89A, GPR89B, NBPF11, NBPF12, PDZK1, PRKAB2 1 0 0 0 0 1 2
GJA8 0 0 1 1 0 0 2
AADACL3, AADACL4, ACOT7, ACTL8, AGMAT, AGTRAP, AJAP1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ANGPTL7, ARHGEF10L, ARHGEF19, ATP13A2, C1orf127, C1orf167, CA6, CAMTA1, CAPZB, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CHD5, CLCN6, CLCNKA, CLCNKB, CLSTN1, CORT, CPLANE2, CROCC, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EMC1, ENO1, EPHA2, ERRFI1, ESPN, EXOSC10, FAM131C, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FHAD1, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL2, HSPB7, HTR6, ICMT, IFFO2, IGSF21, KAZN, KCNAB2, KIAA2013, KIF1B, KLHDC7A, KLHL21, LINC01783, LRRC38, LZIC, MAD2L2, MASP2, MFAP2, MFN2, MICOS10, MICOS10-NBL1, MIIP, MIR34A, MRTO4, MTHFR, MTOR, NBL1, NBPF1, NECAP2, NMNAT1, NOL9, NPHP4, NPPA, NPPB, OTUD3, PADI1, PADI2, PADI3, PADI4, PADI6, PARK7, PAX7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RBP7, RCC2, RERE, RNF186, RNF207, RNU1-4, RPL22, RSC1A1, SDHB, SLC25A33, SLC25A34, SLC2A5, SLC2A7, SLC45A1, SLC66A1, SPATA21, SPEN, SPSB1, SRARP, SRM, SZRD1, TARDBP, TAS1R1, TAS1R2, THAP3, TMCO4, TMEM201, TMEM51, TMEM82, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, TRE-TTC3-1, TRG-CCC1-1, TRQ-CTG14-1, UBE4B, UBIAD1, UBR4, UBXN10, UTS2, VAMP3, VPS13D, ZBTB17, ZBTB48 1 0 0 0 0 0 1
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FNDC10, GABRD, GNB1, GPR153, HES2, HES3, HES4, HES5, ICMT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PER3, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF207, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 1 0 0 0 0 0 1
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FNDC10, GABRD, GNB1, GPR153, HES2, HES3, HES4, HES5, ICMT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF207, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73, ZBTB48 1 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, AJAP1, 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 0 1
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 1
ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, OR4F29, OR4F5, PANK4, PEX10, PLCH2, PLEKHN1, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 1 0 0 0 0 0 1
ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, OR4F16, PANK4, PEX10, PLCH2, PLEKHN1, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1 1 0 0 0 0 0 1
ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CCNL2, CDK11A, CDK11B, CPTP, DVL1, FAM41C, FAM87B, FNDC10, GNB1, HES4, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC110599576, LOC112577469, LOC115801415, LOC121677382, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC126805576, LOC126805577, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMP23B, MRPL20, MRPL20-DT, MXRA8, NADK, NOC2L, PERM1, PLEKHN1, PUSL1, RNF223, SAMD11, SCNN1D, SDF4, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, TMEM240, TMEM88B, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1 1 0 0 0 0 0 1
ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, CPT2, CYB5RL, CYP2J2, CZIB, DAB1, DHCR24, DIO1, DMRTB1, DNAJC6, DOCK7, EFCAB7, FAM151A, FGGY, FOXD3, FYB2, GLIS1, HOOK1, IFT25, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LRP8, LRRC42, MAGOH, MIR101-1, MROH7, MRPL37, MYSM1, NDC1, NFIA, OMA1, PARS2, PATJ, PCSK9, PDE4B, PGM1, PLPP3, PRKAA2, RAVER2, ROR1, SSBP3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1 1 0 0 0 0 0 1
ACOT7, ACTRT2, AJAP1, ARHGEF16, C1orf174, CAMTA1, CCDC27, CEP104, CHD5, DFFB, DNAJC11, ERRFI1, ESPN, GPR153, HES2, HES3, HES5, ICMT, KCNAB2, KLHL21, LRRC47, MEGF6, MIR551A, MMEL1, NOL9, NPHP4, PANK4, PARK7, PER3, PHF13, PLCH2, PLEKHG5, PRDM16, PRXL2B, RNF207, RPL22, SMIM1, TAS1R1, THAP3, TNFRSF14, TNFRSF25, TNFRSF9, TP73, TPRG1L, TTC34, UTS2, VAMP3, WRAP73, ZBTB48 0 0 0 0 0 1 1
ACOT7, ACTRT2, AJAP1, ARHGEF16, C1orf174, CCDC27, CEP104, CHD5, DFFB, ESPN, FAAP20, GABRD, GPR153, HES2, HES3, HES5, ICMT, KCNAB2, LRRC47, MEGF6, MIR551A, MMEL1, MORN1, NPHP4, PANK4, PEX10, PLCH2, PLEKHG5, PRDM16, PRKCZ, PRXL2B, RER1, RNF207, RPL22, SKI, SMIM1, TNFRSF14, TNFRSF25, TP73, TPRG1L, TTC34, WRAP73 1 0 0 0 0 0 1
ACOT7, CAMTA1, DNAJC11, ESPN, GPR153, HES2, HES3, ICMT, KLHL21, NOL9, PER3, PHF13, PLEKHG5, RNF207, RPL22, TAS1R1, THAP3, TNFRSF25, UTS2, VAMP3, ZBTB48 1 0 0 0 0 0 1
ACP6, ADAM15, ADAMTSL4, ADAR, ANKRD34A, ANKRD35, ANP32E, ANXA9, APH1A, AQP10, ARHGEF11, ARHGEF2, ARNT, ASH1L, ATP8B2, BCAN, BCL9, BGLAP, BNIPL, BOLA1, C1orf43, C1orf54, C1orf56, C2CD4D, CA14, CCT3, CD160, CDC42SE1, CELF3, CERS2, CFAP141, CGN, CHD1L, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CRABP2, CRCT1, CREB3L4, CRNN, CRTC2, CTSK, CTSS, DAP3, DCST1, DCST2, DENND4B, DPM3, ECM1, EFNA1, EFNA3, EFNA4, ENSA, ENTREP3, ETV3, ETV3L, FALEC, FAM72C, FAM72D, FCGR1A, FCRL3, FCRL4, FCRL5, FDPS, FLAD1, FLG, FLG2, FMO5, GABPB2, GATAD2B, GBA1, GJA5, GJA8, GLMP, GOLPH3L, GON4L, GPATCH4, GPR89A, GPR89B, H2AC18, H2AC19, H2AC20, H2AC21, H2BC18, H2BC21, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HJV, HORMAD1, HRNR, IL6R, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITGA10, IVL, JTB, KCNN3, KHDC4, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LELP1, LENEP, LINGO4, LIX1L, LMNA, LOC101928034, LORICRIN, LRRC71, LYSMD1, MCL1, MEF2D, METTL25B, MEX3A, MINDY1, MIR9-1, MIR9-1HG, MLLT11, MRPL24, MRPL9, MRPS21, MSTO1, MTMR11, MTX1, MUC1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NES, NOTCH2NLA, NPR1, NTRK1, NUDT17, NUP210L, OAZ3, OTUD7B, PAQR6, PBXIP1, PDE4DIP, PDZK1, PEAR1, PEX11B, PGLYRP3, PGLYRP4, PI4KB, PIAS3, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGZ, POLR3C, POLR3GL, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PRCC, PRKAB2, PRPF3, PRR9, PRUNE1, PSMB4, PSMD4, PYGO2, RAB13, RAB25, RBM8A, RFX5, RHBG, RIIAD1, RIT1, RNF115, RORC, RPRD2, RPS27, RPTN, RUSC1, RXFP4, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCNM1, SELENBP1, SEMA4A, SEMA6C, SETDB1, SF3B4, SH2D2A, SHC1, SHE, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SMCP, SMG5, SNAPIN, SNX27, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SRGAP2B, SSR2, SV2A, SYT11, TARS2, TCHH, TCHHL1, TDRD10, TDRKH, THBS3, THEM4, THEM5, TMEM79, TMOD4, TNFAIP8L2, TPM3, TRH-GTG2-1, TRIM46, TRN-GTT2-7, TSACC, TTC24, TUFT1, TXNIP, UBAP2L, UBE2Q1, UBQLN4, VHLL, VPS45, VPS72, YY1AP1, ZBTB7B, ZNF687 1 0 0 0 0 0 1
ACP6, ADAMTSL4, ANKRD34A, ANKRD35, ANP32E, ANXA9, APH1A, ARNT, BCL9, BNIPL, BOLA1, C1orf54, C1orf56, 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, KPLCE, 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-GTT2-7, TUFT1, TXNIP, VPS45, VPS72, ZNF687 1 0 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, TXNIP 1 0 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, TXNIP 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GJA5, GJA8, GPR89B, LINC00624, LINC01138, LINC01731, LINC02805, LINC02806, LOC101927468, LOC110121261, LOC111556113, LOC112577490, LOC121725051, LOC121725052, LOC121725053, LOC122128420, LOC126805853, LOC126805854, LOC128071544, LOC129388602, LOC129388603, LOC129388604, LOC129931352, LOC129931353, LOC129931354, LOC129931355, LOC129931356, LOC129931357, LOC129931358, LOC129931359, LOC129931360, LOC129931361, LOC129931362, LOC129931363, MIR5087, MIR6077, NBPF11, PRKAB2, RNVU1-1, RNVU1-3, RNVU1-7, RNVU1-8, TRH-GTG1-2, TRH-GTG1-3, TRH-GTG1-4, TRN-GTT9-2, TRQ-CTG3-2, TRQ-CTG4-1, TRQ-CTG7-1 1 0 0 0 0 0 1
ACP6, BCL9, CHD1L, FMO5, GPR89A, NBPF11, NBPF12, PRKAB2 1 0 0 0 0 0 1
ACTRT2, ARHGEF16, C1orf174, CALML6, CCDC27, CEP104, CFAP74, DFFB, FAAP20, GABRD, GNB1, HES5, LRRC47, MEGF6, MIR551A, MMEL1, MORN1, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, RER1, SKI, SLC35E2A, SMIM1, TMEM52, TNFRSF14, TP73, TPRG1L, TTC34, WRAP73 1 0 0 0 0 0 1
ACTRT2, ARHGEF16, CALML6, CFAP74, FAAP20, GABRD, GNB1, HES5, MEGF6, MMEL1, MORN1, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, RER1, SKI, TMEM52, TNFRSF14, TTC34 1 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NBPF10, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 0 1
ANKRD34A, ANKRD35, CD160, GPR89A, HJV, ITGA10, LIX1L, NUDT17, PDZK1, PEX11B, PIAS3, POLR3C, POLR3GL, RBM8A, RNF115, TXNIP 1 0 0 0 0 0 1
CNIH3, CNIH4, DNAH14, NVL, WDR26 1 0 0 0 0 0 1
GJA5 0 0 1 0 0 0 1
LOC122056894, NFIA 0 0 1 0 0 0 1
LOC122056897, LOC129388539, LOC129388540, NFIA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Baylor Genetics 11 0 1 0 0 0 12
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 10 0 0 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 7 2 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 4 1 0 0 6
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 4 0 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 1 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
New York Genome Center 2 0 0 0 0 0 2
3billion 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Laboratory of Genetics, AOUP, Azienda Ospedaliera Universitaria Pisana 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Limoges University Hospital Laboratory, Limoges University Hospital 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Pediatrics, Fuzong Clinical Medical College of Fujian Medical University 1 0 0 0 0 0 1

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