ClinVar Miner

Variants from Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 total
338 207 350 1 0 895

Gene and significance breakdown #

Total genes and gene combinations: 587
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ABCA4 3 2 2 0 7
TTN 2 4 1 0 7
MYH7 1 5 0 0 6
ANKRD17 2 0 3 0 5
CACNA1A 3 1 1 0 5
CHD3 0 1 4 0 5
FLNC 2 0 3 0 5
KCNQ2 2 2 1 0 5
MECP2 2 1 2 0 5
MYBPC3 4 0 1 0 5
NFIX 4 0 1 0 5
PHIP 3 1 1 0 5
SCN2A 2 0 3 0 5
SCN8A 1 0 4 0 5
TRIO 2 0 3 0 5
CRB1 1 2 1 0 4
EP300 2 1 1 0 4
FBN1 0 3 1 0 4
GDAP1 0 1 3 0 4
GRIN2A 0 2 2 0 4
KDM5B 1 2 1 0 4
KMT2A 2 2 0 0 4
MBD5 1 1 2 0 4
NEB 1 1 2 0 4
PPP1R12A 2 0 2 0 4
PTPN11 3 1 0 0 4
RYR1 2 1 1 0 4
SETX 0 1 3 0 4
SPTAN1 0 1 3 0 4
SPTBN1 0 1 3 0 4
TRRAP 0 0 4 0 4
USH2A 3 1 0 0 4
ANKRD11 1 1 1 0 3
AP1G1 0 1 2 0 3
ARFGEF1 0 0 3 0 3
ARID1B 2 0 1 0 3
ATRX 0 1 2 0 3
BLM 2 1 0 0 3
BPTF 2 0 1 0 3
CHD5 0 0 3 0 3
CHD7 1 1 1 0 3
CIC 0 0 3 0 3
COL12A1 0 1 2 0 3
COL2A1 1 1 1 0 3
COL6A2 0 2 1 0 3
DSP 1 2 0 0 3
GLDN 1 2 0 0 3
GRIN1 0 1 2 0 3
KCNB1 1 1 1 0 3
KMT5B 1 1 1 0 3
LDLR 3 0 0 0 3
MC4R 1 2 0 0 3
MYO7A 2 0 1 0 3
NBEA 0 1 2 0 3
NEXMIF 3 0 0 0 3
NIPBL 0 2 1 0 3
NOTCH3 1 0 2 0 3
NR2E3 3 0 0 0 3
NSD1 3 0 0 0 3
OPA1 3 0 0 0 3
RBM20 1 0 2 0 3
SCN3A 0 0 3 0 3
SHANK3 2 0 1 0 3
SPAST 2 1 0 0 3
SPG11 2 0 1 0 3
STXBP1 1 1 1 0 3
SYNE1 1 1 1 0 3
TBR1 1 1 1 0 3
TCF20 2 0 1 0 3
TET3 0 3 0 0 3
TRIP12 1 0 2 0 3
WFS1 2 0 1 0 3
AARS1 0 0 2 0 2
ACSL4 0 0 2 0 2
ACTA1 0 1 1 0 2
ACTB 0 1 1 0 2
ADNP 0 1 1 0 2
AFG2A 0 2 0 0 2
AFG3L2 1 0 1 0 2
ALMS1 2 0 0 0 2
ANO5 2 0 0 0 2
AP3B1 2 0 0 0 2
ATP1A2 1 0 1 0 2
BDH1, CEP19, DLG1, DYNLT2B, FBXO45, LINC00885, LINC01063, LINC02012, LOC105374308, LOC111828515, LOC112935924, LOC115995537, LOC115995538, LOC121048736, LOC121725167, LOC123464498, LOC123464499, LOC123464500, LOC123464501, LOC123464502, LOC123464503, LOC123464504, LOC123464505, LOC126806932, LOC126806933, LOC126806934, LOC126806935, LOC126806936, LOC129389196, LOC129389197, LOC129938261, LOC129938262, LOC129938263, LOC129938264, LOC129938265, LOC129938266, LOC129938267, LOC129938268, LOC129938269, LOC129938270, LOC129938271, LOC129938272, LOC129938273, LOC129938274, LOC129938275, LOC129938276, LOC129938277, LOC129938278, LOC129938279, LOC129938280, LOC129938281, LOC129938282, LOC129938283, LOC129938284, LOC129938285, LOC129938286, LOC129938287, LOC129938288, LOC129938289, LOC129938290, LOC129938291, LOC129938292, LOC129938293, LOC129938294, LOC129938295, LOC129938296, LOC129938297, LOC129938298, LOC129938299, LOC129938300, LOC129938301, LOC129938302, LOC129938303, LOC129938304, LOC129938305, LOC129938306, LOC129938307, LOC129938308, LOC129938309, LOC129938310, LOC129938311, LOC129938312, LOC129938313, LOC129938314, MELTF, MIR4797, NCBP2, NCBP2AS2, NRROS, PAK2, PCYT1A, PIGX, PIGZ, RNF168, SENP5, SLC51A, SMCO1, TFRC, TM4SF19, TM4SF19-DYNLT2B, UBXN7, WDR53, ZDHHC19 2 0 0 0 2
BMPR2 1 0 1 0 2
BRAF 1 1 0 0 2
BRCA2 2 0 0 0 2
CACNA1C 0 0 2 0 2
CACNA1D 1 0 1 0 2
CAMTA1 0 1 1 0 2
CASR 0 0 2 0 2
CBS 1 0 1 0 2
CERT1 0 0 2 0 2
CHD1 0 0 2 0 2
CHD8 1 0 1 0 2
CHEK2 2 0 0 0 2
CLCN1 1 0 1 0 2
CLCN4 0 0 2 0 2
CLTC 2 0 0 0 2
CNOT1 0 1 1 0 2
COL4A1 1 1 0 0 2
COL6A3 2 0 0 0 2
CREBBP 1 1 0 0 2
CSNK2A1 1 0 1 0 2
CTCF 1 0 1 0 2
DDX3X 1 1 0 0 2
DEPDC5 1 0 1 0 2
DHX16 0 0 2 0 2
DNAAF11 2 0 0 0 2
DPY30, LOC129933452, LOC129933453, LOC129933454, LOC129933455, SLC30A6, SLC30A6-DT, SPAST 2 0 0 0 2
DUOX2 1 1 0 0 2
DYNC1H1 0 1 1 0 2
DYRK1A 1 1 0 0 2
EMC1 1 1 0 0 2
FBXW11 0 0 2 0 2
FHL1 2 0 0 0 2
FOXP2 1 0 1 0 2
G6PD 2 0 0 0 2
GATAD2B 1 0 1 0 2
GRIA2 0 0 2 0 2
HFE 2 0 0 0 2
HMGB1 2 0 0 0 2
IFT74 1 1 0 0 2
IGF1R 1 0 1 0 2
IQSEC2 1 0 1 0 2
JAG1 1 1 0 0 2
JARID2 0 1 1 0 2
KDM3B 0 1 1 0 2
KDM5A 0 1 1 0 2
KDM5C 1 1 0 0 2
KLHL20 1 0 1 0 2
KMT2B 1 1 0 0 2
KMT2E 1 0 1 0 2
L2HGDH 0 2 0 0 2
LAMP2 1 1 0 0 2
LOC102724058, SCN1A 0 1 1 0 2
LOC126860975, ZMIZ1 0 0 2 0 2
LRPPRC 0 1 1 0 2
MACF1 0 0 2 0 2
MAP2K2 0 1 1 0 2
MED13 0 0 2 0 2
MED13L 2 0 0 0 2
MFN2 0 1 1 0 2
MME 0 2 0 0 2
MYO15A 2 0 0 0 2
NAA15 1 1 0 0 2
NPC1 2 0 0 0 2
NR5A1 1 0 1 0 2
NUBPL 0 1 1 0 2
PAK1 0 2 0 0 2
PDE6B 2 0 0 0 2
PIK3CA 2 0 0 0 2
PKD1 1 0 1 0 2
PRPF8 1 0 1 0 2
PRPH2 2 0 0 0 2
PRR12 1 0 1 0 2
PTCH1 1 1 0 0 2
PTPRQ 0 0 2 0 2
PURA 1 1 0 0 2
RHO 1 0 1 0 2
RPGR 2 0 0 0 2
RPS6KA3 0 2 0 0 2
RYR2 2 0 0 0 2
SATB2 1 0 1 0 2
SCN1A, SCN9A 0 0 2 0 2
SCN1B 0 1 1 0 2
SETBP1 0 0 2 0 2
SETD2 1 0 1 0 2
SETD5 0 0 2 0 2
SIN3A 0 1 1 0 2
SLC6A5 1 1 0 0 2
SMC3 0 1 1 0 2
SOX11 1 1 0 0 2
SPG7 2 0 0 0 2
SRD5A2 2 0 0 0 2
SYNE2 0 1 1 0 2
TBCEL-TECTA, TECTA 0 0 2 0 2
TBX5 2 0 0 0 2
TFAP2B 0 2 0 0 2
TNNT2 0 2 0 0 2
TUBB3 0 1 1 0 2
USP9X 2 0 0 0 2
VPS13D 0 2 0 0 2
YY1 1 1 0 0 2
​intergenic 0 1 0 0 1
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3, TBC1D3C, TBC1D3D, TBC1D3E, TBC1D3K, TBC1D3L, ZNHIT3 1 0 0 0 1
ABCA13 0 0 1 0 1
ABCA2 0 0 1 0 1
ABCA7 0 0 1 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC100288162, LOC100505915, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC129390770, MARF1, MIR1972-1, MIR3179-1, MIR3180-1, MIR3180-4, MIR3670-1, MIR484, MIR6506, MIR6511A1, MIR6511B2, MIR6770-1, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 1
ABCD1 1 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, LOC111365170, LOC116309161, LOC116309162, LOC121853071, LOC125467793, LOC130068830, LOC130068831, LOC130068832, LOC130068833, LOC130068834, LOC130068835, LOC130068836, LOC130068837, LOC130068838, LOC130068839, LOC130068840, LOC130068841, LOC130068842, LOC130068843, LOC130068844, LOC130068845, LOC130068846, LOC130068847, LOC130068848, LOC130068849, LOC130068850, LOC130068851, LOC130068852, LOC130068853, LOC130068854, MECP2, MIR3202-1, MIR3202-2, MIR718, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PDZD4, PLXNB3, PNCK, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 1 0 0 0 1
ABCD1, PLXNB3 0 1 0 0 1
ACADSB 1 0 0 0 1
ACBD6, LHX4 0 0 1 0 1
ACO2 0 0 1 0 1
ACO2, POLR3H 0 0 1 0 1
ACTL6B 0 0 1 0 1
ADAMTS3, AFM, AFP, ALB, ANKRD17, ANKRD17-DT, ANXA3, AREG, ART3, BMP2K, BMP2K-DT, BTC, CCDC158, CCNG2, CCNI, CDKL2, CNOT6L, COX18, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, EPGN, EREG, FAM47E, FAM47E-STBD1, FRAS1, G3BP2, INKILN, LINC01094, LINC02483, LINC02499, LINC02562, LOC101928893, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121725172, LOC121725173, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC129389219, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715, LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, MIR4450, MIR548AH, MRPL1, MTHFD2L, NAAA, NPFFR2, NUP54, ODAPH, PAQR3, PARM1, PF4, PF4V1, PPBP, PPEF2, RASSF6, RCHY1, SCARB2, SDAD1, SEPTIN11, SEPTIN11-DT, SHROOM3, SNORD161, SOWAHB, STBD1, THAP6, UMLILO, USO1 1 0 0 0 1
AHDC1 0 1 0 0 1
AKT1 0 0 1 0 1
ALDH18A1 0 0 1 0 1
ALDH5A1 1 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, CDIPTOSP, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KCTD13-DT, KIF22, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, MAZ, MVP, MVP-DT, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 1
ALG13 0 0 1 0 1
AMMECR1 0 1 0 0 1
ANK2, LOC126807137 1 0 0 0 1
ANKRD24, ARRDC5, CHAF1A, CREB3L3, DAPK3, DPP9, EBI3, EEF2, FEM1A, FSD1, HDGFL2, LOC111828491, LOC112543490, LOC112552148, LOC113939971, LOC116276499, LOC121627849, LOC121627850, LOC121627851, LOC121852974, LOC125371455, LOC125371457, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC129391034, LOC129391035, LOC129391036, LOC129391037, LOC129391038, LOC129391039, LOC130063168, LOC130063169, LOC130063170, LOC130063171, LOC130063172, LOC130063173, LOC130063174, LOC130063175, LOC130063176, LOC130063177, LOC130063178, LOC130063179, LOC130063180, LOC130063181, LOC130063182, LOC130063183, LOC130063184, LOC130063185, LOC130063186, LOC130063187, LOC130063188, LOC130063189, LOC130063190, LOC130063191, LOC130063192, LOC130063193, LOC130063194, LOC130063195, LOC130063196, LOC130063197, LOC130063198, LOC130063199, LOC130063200, LOC130063201, LOC130063202, LOC130063203, LOC130063204, LOC130063205, LOC130063206, LOC130063207, LOC130063208, LOC130063209, LOC130063210, LOC130063211, LOC130063212, LOC130063213, LOC130063214, LOC130063215, LOC130063216, LOC130063217, LOC130063218, LOC130063219, LOC130063220, LOC130063221, LOC130063222, LOC130063223, LOC130063224, LOC130063225, LOC130063226, LOC130063227, LOC130063228, LOC130063229, LOC130063230, LOC130063231, LOC130063232, LOC130063233, LOC130063234, LOC130063235, LOC130063236, LOC130063237, LRG1, MAP2K2, MIR4746, MIR4747, MIR637, MIR7-3, MIR7-3HG, MPND, MYDGF, NMRK2, PIAS4, PLIN3, PLIN4, PLIN5, SEMA6B, SH3GL1, SHD, SIRT6, SNORD37, STAP2, TICAM1, TMIGD2, TNFAIP8L1, TRG-TCC1-1, TRV-CAC3-1, UBXN6, UHRF1, YJU2, ZBTB7A 0 0 1 0 1
ANO10 0 0 1 0 1
AP2M1, LOC123453202 0 0 1 0 1
APC 0 0 1 0 1
APOB 1 0 0 0 1
AR 1 0 0 0 1
ARID1A 0 0 1 0 1
ARID2 1 0 0 0 1
ARSA 1 0 0 0 1
ASH1L 0 0 1 0 1
ASXL1 1 0 0 0 1
ASXL3 0 1 0 0 1
ATP1A1 0 1 0 0 1
ATP1A3 0 0 1 0 1
ATP2B1 0 0 1 0 1
ATP6AP1, ATP6AP1-DT, CTAG1A, CTAG1B, DNASE1L1, FAM223A, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, LOC107181288, LOC107988021, LOC107988022, LOC108281126, LOC121627985, LOC121853072, LOC129929052, LOC130068868, LOC130068869, LOC130068870, LOC130068871, LOC130068872, LOC130068873, LOC130068874, LOC130068875, LOC130068876, LOC130068877, LOC130068878, LOC130068879, LOC130068880, LOC130068881, MIR6858, PLXNA3, RPL10, SLC10A3, SNORA70, TAFAZZIN, UBL4A 1 0 0 0 1
B3GLCT 1 0 0 0 1
BAZ1B 0 0 1 0 1
BRIP1 1 0 0 0 1
BRPF1 0 0 1 0 1
CACNA1D, LOC129936904 0 0 1 0 1
CACNA1E 0 0 1 0 1
CACNA1F 1 0 0 0 1
CACNA1H 0 0 1 0 1
CACNA1S 0 1 0 0 1
CACNG2 0 0 1 0 1
CACNG2-DT, IFT27, LOC126863139 0 1 0 0 1
CADM3 0 0 1 0 1
CAMK2B 0 0 1 0 1
CAMK2G 0 1 0 0 1
CAPN3 0 1 0 0 1
CASD1, SGCE 1 0 0 0 1
CASK 0 0 1 0 1
CASQ1 0 0 1 0 1
CBL 0 1 0 0 1
CCDC102B, CD226, DOK6, GTSCR1, LINC01909, LINC01910, LIVAR, LOC105372179, LOC112543433, LOC125371438, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC130062694, LOC130062695, LOC130062696, LOC130062697, LOC130062698, LOC130062699, LOC130062700, LOC130062701, LOC130062702, LOC130062703, LOC130062704, LOC130062705, LOC130062706, LOC132090506, LOC132090507, LOC132090508, LOC132090509, RTTN, SOCS6 0 0 1 0 1
CCDC88C 0 0 1 0 1
CCDST, FLG 1 0 0 0 1
CDC16, CHAMP1, LOC124946348, LOC130010210, LOC130010211, LOC130010212, LOC130010213, LOC130010214, LOC130010215, LOC130010216, LOC130010217, LOC130010218, MIR4502, MIR548AR, UPF3A 1 0 0 0 1
CDH2 0 0 1 0 1
CDH23 0 1 0 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, FBXW10B, HS3ST3B1, LINC02096, LOC101928475, LOC105943587, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LROMI1, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 1
CELF2 0 0 1 0 1
CFAP410 1 0 0 0 1
CFAP410, LOC130066823 1 0 0 0 1
CHM 1 0 0 0 1
CHRNA1 0 0 1 0 1
CILK1 0 0 1 0 1
CLCN2 0 0 1 0 1
CLCN3 0 0 1 0 1
CLRN1 1 0 0 0 1
CLTC, LOC125177523 0 0 1 0 1
CNOT3 1 0 0 0 1
COG4 0 0 1 0 1
COL11A2 1 0 0 0 1
COL1A1 1 0 0 0 1
COL1A2 0 1 0 0 1
COL4A2 0 1 0 0 1
COL4A3, MFF-DT 1 0 0 0 1
COL5A2 0 0 1 0 1
COL9A2 0 1 0 0 1
CPT2 1 0 0 0 1
CSDE1 0 1 0 0 1
CSF1R 0 1 0 0 1
CTNNA3 0 0 1 0 1
CTNNB1 1 0 0 0 1
CTNND2 0 1 0 0 1
CUL4B 0 0 1 0 1
CUX1 0 0 0 1 1
CYP2R1, PDE3B 0 0 1 0 1
DCTN5, PALB2 1 0 0 0 1
DDX41 1 0 0 0 1
DDX6 0 0 1 0 1
DEAF1 0 0 1 0 1
DES 0 0 1 0 1
DIP2C 0 0 1 0 1
DLG4, LOC126862479 0 0 1 0 1
DMD 1 0 0 0 1
DNAAF5 0 0 1 0 1
DNAI2 1 0 0 0 1
DNMT3A 0 1 0 0 1
DNMT3A, LOC129933287, LOC129933288 1 0 0 0 1
DNMT3A, LOC129933290, LOC129933291 1 0 0 0 1
DPYSL2 0 0 1 0 1
DSC2 1 0 0 0 1
DYNC1H1, LOC126862060 0 1 0 0 1
EBF3 0 0 1 0 1
EIF3F 1 0 0 0 1
ELN 0 1 0 0 1
ELP1 0 0 1 0 1
ERF 0 0 1 0 1
ERGIC3 0 1 0 0 1
ERLIN2 0 0 1 0 1
ERMARD 0 1 0 0 1
ETV6 1 0 0 0 1
EXOSC3 1 0 0 0 1
EXT1 1 0 0 0 1
EYS 1 0 0 0 1
F5 1 0 0 0 1
FBN2 0 1 0 0 1
FBXO11, MSH6 0 1 0 0 1
FBXO7 1 0 0 0 1
FGFR1 1 0 0 0 1
FGFR2 0 1 0 0 1
FGFR3 1 0 0 0 1
FLNA 0 1 0 0 1
FLNB 0 0 1 0 1
FOXC1 0 1 0 0 1
FOXE3, LINC01389 0 1 0 0 1
FRMD7 0 1 0 0 1
FRMPD4 0 0 1 0 1
FRYL 0 0 1 0 1
GABRA5 0 0 1 0 1
GARS1 1 0 0 0 1
GBA1, LOC106627981 0 1 0 0 1
GCH1 1 0 0 0 1
GDF5 0 1 0 0 1
GDI1 0 0 1 0 1
GIGYF1 0 0 1 0 1
GJB1 0 1 0 0 1
GJB2 1 1 0 0 1
GJC2 0 0 1 0 1
GLA, RPL36A-HNRNPH2 1 0 0 0 1
GNB1 0 0 1 0 1
GNB2 0 0 1 0 1
GNB5 1 0 0 0 1
GNE 0 0 1 0 1
GNRHR 1 0 0 0 1
GPC3 0 0 1 0 1
GPC4 0 1 0 0 1
GRHL3 0 0 1 0 1
GRIA1 0 0 1 0 1
GRIA3 0 0 1 0 1
GRIA4 0 0 1 0 1
GRIN2B 1 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 1 0 0 0 1
H1-4 1 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 1
HCCS 0 0 1 0 1
HCN1 0 0 1 0 1
HIVEP2 0 0 1 0 1
HMCN1 0 0 1 0 1
HNMT 0 1 0 0 1
HNRNPH1, LOC128966623 1 0 0 0 1
HNRNPR 1 0 0 0 1
HOXA2 1 0 0 0 1
HOXB13 0 0 1 0 1
HUWE1 1 0 0 0 1
IGF1, LINC02456, LOC129390543, LOC129390544, LOC130008566, LOC130008567, LOC132089961, LOC132089962, LOC132089963, NUP37, PARPBP, PMCH 0 0 1 0 1
IL1RAPL1 0 0 1 0 1
INTU 0 0 1 0 1
JUP 0 0 1 0 1
KANSL1 0 1 0 0 1
KAT6A 0 0 1 0 1
KCNC3 1 0 0 0 1
KCND2 0 0 1 0 1
KCND3 0 1 0 0 1
KCNH2 0 1 0 0 1
KCNQ3 0 1 0 0 1
KCNT2 1 0 0 0 1
KDM2B 0 1 0 0 1
KDM6A 0 0 1 0 1
KDM6B 1 0 0 0 1
KDM6B, LOC121587574 0 0 1 0 1
KDR 0 0 1 0 1
KIF11 1 0 0 0 1
KIF1A 1 0 0 0 1
KIF5A 1 0 0 0 1
KIF5C 0 0 1 0 1
KITLG 1 0 0 0 1
KMT2C 0 0 1 0 1
KMT2D 0 0 1 0 1
LALTOP, TPO 0 1 0 0 1
LMBRD2 1 0 0 0 1
LMNA 0 1 0 0 1
LOC112163633, PPP1R12A 1 0 0 0 1
LOC113875037, LOC125446266, LOC126863197, LOC126863198, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PNPLA4, PUDP, STS, VCX 1 0 0 0 1
LOC114827851, MYH6 0 0 1 0 1
LOC121627840, LOC125371439, LOC126862802, LOC126862803, LOC130062726, LOC130062727, PTGR3, SMIM21, TSHZ1 0 1 0 0 1
LOC122757951, LOC126806224, LOC129388867, LOC129388868, LOC129933830, LOC129933831, LOC129933832, LOC129933833, LOC129933834, SNORA70B, USP34, USP34-DT, XPO1 0 0 1 0 1
LOC126806423, TTN 1 0 0 0 1
LOC126807323, TRIO 0 0 1 0 1
LOC126861896, MYH6 0 0 1 0 1
LOC126862481, POLR2A 1 0 0 0 1
LOC126862757, TCF4 1 0 0 0 1
LOC126863188, SHANK3 1 0 0 0 1
LOC130003630, ZEB1 0 1 0 0 1
LOC130057115, LOC130057116, LOC130057117, LOC130057118, LOC130057119, LOC130057120, RFX7, TEX9 0 0 1 0 1
LOC130058887, STX1B 1 0 0 0 1
LONP2, SIAH1 0 0 1 0 1
LRP4 0 0 1 0 1
LRSAM1 1 0 0 0 1
LZTR1 0 0 1 0 1
MAFB 0 1 0 0 1
MAGT1 0 0 1 0 1
MAN2C1 0 0 1 0 1
MAP1B 0 0 1 0 1
MAP2K1 1 0 0 0 1
MAP3K1 0 0 1 0 1
MAPK8IP3 0 0 1 0 1
MCOLN1 0 1 0 0 1
MED12L 0 0 1 0 1
MEFV 0 0 1 0 1
MEN1 0 1 0 0 1
MERTK 1 0 0 0 1
MHRT, MYH7 0 0 1 0 1
MID1 1 0 0 0 1
MILR1, POLG2 0 0 1 0 1
MSH2 0 1 0 0 1
MSH6 1 0 0 0 1
MSTO1 0 0 1 0 1
MSX1 1 0 0 0 1
MT-ND4 1 0 0 0 1
MT-ND5, MT-ND6 1 0 0 0 1
MT-TL1 1 0 0 0 1
MTAP 0 0 1 0 1
MTMR14 0 0 1 0 1
MTOR 1 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 1
MYH6 0 0 1 0 1
MYOT, PKD2L2-DT 0 0 1 0 1
MYRF 1 0 0 0 1
MYT1L 0 1 0 0 1
NAA10 0 0 1 0 1
NALCN 0 0 1 0 1
NARS1 0 0 1 0 1
NEFL 0 0 1 0 1
NEUROG2, ZGRF1 0 0 1 0 1
NF1 0 1 0 0 1
NFIA 1 0 0 0 1
NFIB 1 0 0 0 1
NKAP 0 0 1 0 1
NLGN1 0 0 1 0 1
NLGN3 0 1 0 0 1
NLRP12 0 0 1 0 1
NOVA2 0 0 1 0 1
NPC2 1 0 0 0 1
NR1D1, THRA 0 0 1 0 1
NR2F1 0 1 0 0 1
NR4A2 1 0 0 0 1
NUP107 0 0 1 0 1
OBI1, POU4F1 0 1 0 0 1
OTOF 0 1 0 0 1
OTOGL 1 0 0 0 1
OTUD5 1 0 0 0 1
PALB2 1 0 0 0 1
PARK7 0 1 0 0 1
PAX3 0 0 1 0 1
PAX5 0 0 1 0 1
PAX6 1 0 0 0 1
PDCD10 0 0 1 0 1
PHF21A 0 0 1 0 1
PHKA2 0 0 1 0 1
PIGG 1 0 0 0 1
PLCB4 0 1 0 0 1
POGZ 1 0 0 0 1
POLR2A 0 0 1 0 1
POLR3B 0 0 1 0 1
POU4F3, RBM27-POU4F3 0 0 1 0 1
PPARG 0 0 1 0 1
PPM1D 0 1 0 0 1
PPOX 1 0 0 0 1
PPP2R5D 0 0 1 0 1
PREPL 1 0 0 0 1
PREPL, SLC3A1 1 0 0 0 1
PRKAR1B 0 0 1 0 1
PRKCG 0 1 0 0 1
PROP1 1 0 0 0 1
PRPF31 0 0 1 0 1
PRPS1 0 1 0 0 1
PSAP 0 1 0 0 1
PTEN 1 0 0 0 1
PUF60 1 0 0 0 1
PUS7 0 0 1 0 1
PYGM 1 0 0 0 1
PYROXD1 1 0 0 0 1
QRICH1 0 0 1 0 1
RAB33B 1 0 0 0 1
RAB3GAP1 1 0 0 0 1
RAC1 1 0 0 0 1
RAF1 0 0 1 0 1
RAI1 0 1 0 0 1
RANBP2 0 1 0 0 1
REEP1 0 0 1 0 1
RET 1 0 0 0 1
RIMS1 0 0 1 0 1
RIPOR2 0 1 0 0 1
RNF2 0 0 1 0 1
RNF213 0 1 0 0 1
ROBO1 1 0 0 0 1
RP1L1 0 1 0 0 1
SCAF4 0 0 1 0 1
SCN10A 0 0 1 0 1
SCN1A 0 1 0 0 1
SCN5A 0 1 0 0 1
SCNN1A 0 0 1 0 1
SDHA 0 0 1 0 1
SEC23B 0 1 0 0 1
SEMA6B 1 0 0 0 1
SET 1 0 0 0 1
SETD1B 0 1 0 0 1
SF3B2 0 1 0 0 1
SF3B4 0 0 1 0 1
SHANK2 0 1 0 0 1
SLC12A5 0 0 1 0 1
SLC20A2 1 0 0 0 1
SLC2A1 0 0 1 0 1
SLC45A2 1 0 0 0 1
SLC4A1 1 0 0 0 1
SLC6A1 1 0 0 0 1
SLC9A6 0 0 1 0 1
SMAD6 0 0 1 0 1
SMARCA2 0 0 1 0 1
SMARCC2 0 0 1 0 1
SNAP25 0 0 1 0 1
SON 1 0 0 0 1
SORD 1 0 0 0 1
SOS1 0 0 1 0 1
SOX4 0 0 1 0 1
SOX5 0 0 1 0 1
SOX6 0 0 1 0 1
SPTB 0 0 1 0 1
SRPX2 0 0 1 0 1
SRY 0 1 0 0 1
STAT5B 0 0 1 0 1
STING1 1 0 0 0 1
STT3A 0 0 1 0 1
SUZ12 0 1 0 0 1
SYNGAP1 1 0 0 0 1
TAB2 1 0 0 0 1
TBX22 1 0 0 0 1
TCF12 0 1 0 0 1
TCF4 1 0 0 0 1
TEK 0 0 1 0 1
TENM4 0 0 1 0 1
TFG 1 0 0 0 1
TGFB2 1 0 0 0 1
TGFBR1 0 1 0 0 1
TIA1 1 0 0 0 1
TMEM43 0 1 0 0 1
TMLHE 0 0 1 0 1
TMPRSS3 0 1 0 0 1
TNFRSF13B 0 1 0 0 1
TNPO3 0 0 1 0 1
TNRC6B 1 0 0 0 1
TOR1A 1 0 0 0 1
TPM1 0 0 1 0 1
TPM2 1 0 0 0 1
TRAPPC12 0 1 0 0 1
TRPM1 1 0 0 0 1
TRPV4 1 0 0 0 1
TSC1 1 0 0 0 1
TSC2 1 0 0 0 1
TSHZ1 0 1 0 0 1
TTL 0 0 1 0 1
TTR 1 0 0 0 1
TUBA1A 0 0 1 0 1
TUBB 0 1 0 0 1
TUBB2A 0 0 1 0 1
TYR 1 0 0 0 1
UBE2A 0 0 1 0 1
UBE3B 1 0 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 1 0 0 0 1
USP27X 0 0 1 0 1
VWA1 1 0 0 0 1
WAC 1 0 0 0 1
WDFY3 1 0 0 0 1
WNT10A 1 0 0 0 1
WNT10B 0 1 0 0 1
WWOX 1 0 0 0 1
ZBTB18 1 0 0 0 1
ZBTB20 0 0 1 0 1
ZC4H2 0 1 0 0 1
ZEB2 0 1 0 0 1
ZMIZ1 1 0 0 0 1
ZMYM2 1 0 0 0 1
ZMYM3 0 0 1 0 1
ZMYND11 0 1 0 0 1
ZNF711 0 1 0 0 1
ZSWIM7 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 601
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 5 4 17 0 26
Dilated cardiomyopathy 1G 3 4 0 0 7
Chopra-Amiel-Gordon syndrome 3 0 3 0 6
Developmental and epileptic encephalopathy, 7 2 2 1 0 5
Genitourinary and/or brain malformation syndrome 3 0 2 0 5
Hereditary spastic paraplegia 4 4 1 0 0 5
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 3 1 1 0 5
Severe early-childhood-onset retinal dystrophy 3 1 1 0 5
Snijders Blok-Campeau syndrome 0 1 4 0 5
Charcot-Marie-Tooth disease axonal type 2K 0 1 3 0 4
Coffin-Siris syndrome 1 3 0 1 0 4
Developmental and epileptic encephalopathy, 11 2 0 2 0 4
Developmental delay with or without dysmorphic facies and autism 0 0 4 0 4
Developmental delay, impaired speech, and behavioral abnormalities 0 1 3 0 4
Dilated cardiomyopathy 1S 0 4 0 0 4
Familial cancer of breast 3 0 1 0 4
Hypertrophic cardiomyopathy 4 3 0 1 0 4
Intellectual disability, autosomal dominant 1 1 1 2 0 4
Intellectual disability, autosomal recessive 65 1 2 1 0 4
Malan overgrowth syndrome 3 0 1 0 4
Marfan syndrome 0 3 1 0 4
Nemaline myopathy 2 1 1 2 0 4
Phelan-McDermid syndrome 3 0 1 0 4
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2 1 1 0 4
Usher syndrome type 2A 3 1 0 0 4
Wiedemann-Steiner syndrome 2 2 0 0 4
Autosomal dominant optic atrophy classic form 3 0 0 0 3
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 2 0 0 3
Beck-Fahrner syndrome 0 3 0 0 3
Bethlem myopathy 1A 1 1 1 0 3
Bethlem myopathy 2 0 1 2 0 3
Bloom syndrome 2 1 0 0 3
Clark-Baraitser syndrome 1 0 2 0 3
Cognitive impairment with or without cerebellar ataxia 1 0 2 0 3
Cornelia de Lange syndrome 1 0 2 1 0 3
Developmental and epileptic encephalopathy, 26 1 1 1 0 3
Developmental and epileptic encephalopathy, 4 1 1 1 0 3
Developmental and epileptic encephalopathy, 42 1 1 1 0 3
Developmental delay with or without epilepsy 0 0 3 0 3
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 0 1 0 3
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 3 0 3
Developmental disorder 0 1 2 0 3
Dilated cardiomyopathy 1DD 1 0 2 0 3
Hereditary spastic paraplegia 11 2 0 1 0 3
Hypercholesterolemia, familial, 1 3 0 0 0 3
Intellectual developmental disorder with autism and speech delay 1 1 1 0 3
Intellectual disability, autosomal dominant 45 0 0 3 0 3
Intellectual disability, autosomal dominant 51 1 1 1 0 3
Intellectual disability, autosomal dominant 56 2 0 1 0 3
KBG syndrome 1 1 1 0 3
Landau-Kleffner syndrome 0 2 1 0 3
Lethal congenital contracture syndrome 11 1 2 0 0 3
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2 0 1 0 3
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 3 0 3
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 2 0 1 0 3
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 1 0 2 0 3
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 2 0 3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 2 0 3
Niemann-Pick disease, type C1 3 0 0 0 3
Noonan syndrome 1 3 0 0 0 3
Parenti-mignot neurodevelopmental syndrome 0 0 3 0 3
Rett syndrome 2 1 0 0 3
Sotos syndrome 3 0 0 0 3
Usmani-Riazuddin syndrome, autosomal dominant 0 1 2 0 3
X-linked intellectual disability, Cantagrel type 3 0 0 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2 0 0 0 2
46,XY sex reversal 3 1 0 1 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 1 0 2
Actin accumulation myopathy 0 1 1 0 2
Adrenoleukodystrophy 1 1 0 0 2
Age related macular degeneration 2 0 1 1 0 2
Alagille syndrome due to a JAG1 point mutation 1 1 0 0 2
Aldosterone-producing adenoma with seizures and neurological abnormalities 1 0 1 0 2
Alstrom syndrome 2 0 0 0 2
Amyotrophic lateral sclerosis type 4 0 0 2 0 2
Aural atresia, congenital 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 12 0 0 2 0 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 3 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 84A 0 0 2 0 2
Axial spondylometaphyseal dysplasia; Retinal dystrophy with or without macular staphyloma 2 0 0 0 2
Baraitser-Winter syndrome 1 0 1 1 0 2
Bardet-Biedl syndrome 22 1 1 0 0 2
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia 2 0 0 0 2
CHARGE syndrome 1 0 1 0 2
CTCF-related neurodevelopmental disorder 1 0 1 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2 0 0 0 2
Cardiofaciocutaneous syndrome 4 0 1 1 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 2 0 0 0 2
Cerebellar atrophy, visual impairment, and psychomotor retardation; 1 1 0 0 2
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 1 0 2
Charcot-Marie-Tooth disease axonal type 2N 0 0 2 0 2
Charcot-Marie-Tooth disease axonal type 2T 0 2 0 0 2
Childhood apraxia of speech 1 0 1 0 2
Chromosome 2q32-q33 deletion syndrome 1 0 1 0 2
Chromosome 3q29 microdeletion syndrome 2 0 0 0 2
Chromosome Xq28 duplication syndrome 2 0 0 0 2
Classic homocystinuria 1 0 1 0 2
Coffin-Lowry syndrome 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 1 0 1 1 0 2
Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2 0 0 0 2
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 1 1 0 2
Congenital multicore myopathy with external ophthalmoplegia 1 1 0 0 2
Cornelia de Lange syndrome 3 0 1 1 0 2
DYRK1A-related intellectual disability syndrome 1 1 0 0 2
Danon disease 1 1 0 0 2
Developmental and epileptic encephalopathy 98 1 0 1 0 2
Developmental and epileptic encephalopathy, 62 0 0 2 0 2
Developmental delay with variable intellectual disability and dysmorphic facies 0 1 1 0 2
Diets-Jongmans syndrome 0 1 1 0 2
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14 0 0 2 0 2
Dystonia 28, childhood-onset 1 1 0 0 2
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 1 1 0 2
Enhanced S-cone syndrome; Retinitis pigmentosa 37 2 0 0 0 2
Epilepsy, familial focal, with variable foci 1 1 0 1 0 2
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2 0 0 0 2
Gabriele de Vries syndrome 1 1 0 0 2
Gorlin syndrome 1 1 0 0 2
Growth delay due to insulin-like growth factor I resistance 1 0 1 0 2
Hemochromatosis type 1 2 0 0 0 2
Hereditary spastic paraplegia 7 2 0 0 0 2
Hermansky-Pudlak syndrome 2 2 0 0 0 2
Holt-Oram syndrome 2 0 0 0 2
Hyperekplexia 3 1 1 0 0 2
Hypertrophic cardiomyopathy 1 1 0 1 0 2
Hypertrophic cardiomyopathy 26 2 0 0 0 2
Infantile cerebellar-retinal degeneration 0 0 2 0 2
Intellectual developmental disorder 61 0 0 2 0 2
Intellectual developmental disorder with autism and macrocephaly 1 0 1 0 2
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 2 0 0 2
Intellectual disability, X-linked 1 1 0 1 0 2
Intellectual disability, X-linked 102 1 1 0 0 2
Intellectual disability, X-linked 49 0 0 2 0 2
Intellectual disability, X-linked 63 0 0 2 0 2
Intellectual disability, X-linked 99, syndromic, female-restricted 2 0 0 0 2
Intellectual disability, autosomal dominant 13 0 2 0 0 2
Intellectual disability, autosomal dominant 34 0 0 2 0 2
Intellectual disability, autosomal dominant 50 1 1 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 2 0 2
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 1 1 0 2
L-2-hydroxyglutaric aciduria 0 2 0 0 2
Lateral meningocele syndrome 0 0 2 0 2
Leber congenital amaurosis 8 1 1 0 0 2
Lissencephaly 9 with complex brainstem malformation 0 0 2 0 2
Luscan-Lumish syndrome 1 0 1 0 2
Menke-Hennekam syndrome 1 1 1 0 0 2
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 2 0 0 2
Mitochondrial complex I deficiency, nuclear type 21 0 1 1 0 2
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement 0 0 2 0 2
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 1 0 1 0 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 1 0 1 0 2
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 2 0 2
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 2 0 2
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 0 2 0 2
Neuroocular syndrome 1 0 1 0 2
O'Donnell-Luria-Rodan syndrome 1 0 1 0 2
Okur-Chung neurodevelopmental syndrome 1 0 1 0 2
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 1 0 0 2
Pilarowski-Bjornsson syndrome 0 0 2 0 2
Pitt-Hopkins syndrome 2 0 0 0 2
Polycystic kidney disease, adult type 1 0 1 0 2
Primary ciliary dyskinesia 19 2 0 0 0 2
Primary erythromelalgia 0 0 2 0 2
Pulmonary hypertension, primary, 1 1 0 1 0 2
Retinitis pigmentosa 13 1 0 1 0 2
Retinitis pigmentosa 40 2 0 0 0 2
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 1 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 1 0 2
Spinocerebellar ataxia type 28 1 0 1 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 1 1 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 1 1 0 0 2
Tatton-Brown-Rahman overgrowth syndrome 2 0 0 0 2
Thyroid dyshormonogenesis 6 1 1 0 0 2
Ullrich congenital muscular dystrophy 1A 1 1 0 0 2
Usher syndrome type 1 1 0 1 0 2
Wolfram-like syndrome 1 0 1 0 2
X-linked intellectual disability-psychosis-macroorchidism syndrome; Autism, susceptibility to, X-linked 3 0 0 2 0 2
46,XY sex reversal 1 0 1 0 0 1
46,XY sex reversal 6 0 0 1 0 1
8q24.3 microdeletion syndrome 1 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 0 0 1
Acute myeloid leukemia 0 1 0 0 1
Age related macular degeneration 1 0 0 1 0 1
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0 0 1 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 1
Alzheimer disease 9 0 0 1 0 1
Amelogenesis imperfecta type 1H 1 0 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 1
Aniridia 1 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 11 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 12 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 13 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 0 1
Arthrogryposis, distal, type 1A; Congenital myopathy 23 1 0 0 0 1
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0 1 0 0 1
Atrial fibrillation, familial, 13 0 1 0 0 1
Atrial septal defect 3 0 0 1 0 1
Auditory neuropathy, autosomal dominant 3 0 1 0 0 1
Auriculocondylar syndrome 2 0 1 0 0 1
Autism, susceptibility to, 17 0 1 0 0 1
Autism, susceptibility to, 20 0 0 1 0 1
Autism, susceptibility to, X-linked 1 0 1 0 0 1
Autosomal dominant Alport syndrome 1 0 0 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 1 0 0 1
Autosomal dominant hypocalcemia 1 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 1 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 11 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 13 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 21 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 3A 0 1 0 0 1
Autosomal recessive ataxia, Beauce type 1 0 0 0 1
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 1 0 0 1
Autosomal recessive early-onset Parkinson disease 7 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 12 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 84B 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 9 0 1 0 0 1
Autosomal recessive osteopetrosis 8 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 10 0 0 1 0 1
Axenfeld-Rieger syndrome type 3 0 1 0 0 1
Bardet-Biedl syndrome 19 0 1 0 0 1
Beta-thalassemia HBB/LCRB 1 0 0 0 1
Bilateral microtia-deafness-cleft palate syndrome 1 0 0 0 1
Bohring-Opitz syndrome 1 0 0 0 1
Bone osteosarcoma 1 0 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 0 1
Brain malformations with or without urinary tract defects 1 0 0 0 1
Brain small vessel disease 1 with or without ocular anomalies; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 1 0 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 1 0 0 1
Brugada syndrome 1 0 0 1 0 1
Buratti-Harel syndrome 0 0 1 0 1
CBL-related disorder 0 1 0 0 1
CLAPO syndrome 1 0 0 0 1
CLOVES syndrome 1 0 0 0 1
Capillary infantile hemangioma 0 0 1 0 1
Cardiac valvular dysplasia, X-linked 0 1 0 0 1
Cardiac-urogenital syndrome 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 1
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 0 1 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 1 0 0 0 1
Carnitine palmitoyl transferase II deficiency, myopathic form 1 0 0 0 1
Central core myopathy 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 0 0 0 1
Cerebral cavernous malformation 3 0 0 1 0 1
Char syndrome 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked recessive 5 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2P 1 0 0 0 1
Charcot-Marie-Tooth disease type 2A2 0 1 0 0 1
Charcot-Marie-Tooth disease type 2E 0 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2FF 0 0 1 0 1
Charcot-Marie-tooth disease, axonal, type 2DD 0 1 0 0 1
Choroidal dystrophy, central areolar 2 1 0 0 0 1
Choroideremia 1 0 0 0 1
Christianson syndrome 0 0 1 0 1
Chromosome 17q12 deletion syndrome 1 0 0 0 1
Cleft palate with or without ankyloglossia, X-linked 1 0 0 0 1
Coffin-Siris syndrome 10 0 0 1 0 1
Coffin-Siris syndrome 6 1 0 0 0 1
Coffin-Siris syndrome 8 0 0 1 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13 0 0 1 0 1
Combined PSAP deficiency 0 1 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 2 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 5 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 6 0 1 0 0 1
Cone dystrophy 3 1 0 0 0 1
Congenital contractural arachnodactyly 0 1 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 0 1
Congenital disorder of deglycosylation 2 0 0 1 0 1
Congenital disorder of glycosylation, type Iw, autosomal dominant 0 0 1 0 1
Congenital heart defects, multiple types, 2 1 0 0 0 1
Congenital myasthenic syndrome 1A 0 0 1 0 1
Congenital myotonia, autosomal dominant form 0 0 1 0 1
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 1 0 0 0 1
Congenital nongoitrous hypothyroidism 6 0 0 1 0 1
Congenital primary aphakia 0 1 0 0 1
Congenital stationary night blindness 1C 1 0 0 0 1
Congenital stationary night blindness autosomal dominant 1; Retinitis pigmentosa 4 0 0 1 0 1
Cowden syndrome 1 1 0 0 0 1
Cowden syndrome 7 0 1 0 0 1
Craniofacial microsomia 1 0 1 0 0 1
Crigler-Najjar syndrome type 1; Lucey-Driscoll syndrome; Crigler-Najjar syndrome, type II; Gilbert syndrome 1 0 0 0 1
Cystinuria 1 0 0 0 1
DDX41-related hematologic malignancy predisposition syndrome 1 0 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 1 0 0 0 1
Deficiency of iodide peroxidase 0 1 0 0 1
Developmental and epileptic encephalopathy 6B 0 1 0 0 1
Developmental and epileptic encephalopathy 97 0 0 1 0 1
Developmental and epileptic encephalopathy, 36 0 0 1 0 1
Developmental and epileptic encephalopathy, 57 1 0 0 0 1
Developmental and epileptic encephalopathy, 69 0 0 1 0 1
Developmental and epileptic encephalopathy, 79 0 0 1 0 1
Developmental delay with variable neurologic and brain abnormalities 1 0 0 0 1
Diaphyseal medullary stenosis-bone malignancy syndrome 0 0 1 0 1
Dilated cardiomyopathy 1D 0 1 0 0 1
Dilated cardiomyopathy 1I 0 0 1 0 1
Distal 16p11.2 microdeletion syndrome 1 0 0 0 1
Duchenne muscular dystrophy 1 0 0 0 1
Dystonia 12 0 0 1 0 1
Dystonia 5 1 0 0 0 1
Early-onset generalized limb-onset dystonia 1 0 0 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 0 1 0 1
El Hayek-Chahrour neurodevelopmental disorder 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 1 0 1
Epilepsy with myoclonic atonic seizures 1 0 0 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 11 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 8 0 0 1 0 1
Epilepsy, juvenile myoclonic, susceptibility to, 10 0 0 1 0 1
Epilepsy, progressive myoclonic, 11 1 0 0 0 1
Epiphyseal dysplasia, multiple, 2 0 1 0 0 1
Episodic kinesigenic dyskinesia 1 1 0 0 0 1
Episodic pain syndrome, familial, 2 0 0 1 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 0 1 0 1
FG syndrome 4 0 0 1 0 1
Fabry disease 1 0 0 0 1
Familial Mediterranean fever, autosomal dominant 0 0 1 0 1
Familial acute necrotizing encephalopathy 0 1 0 0 1
Familial adenomatous polyposis 1 0 0 1 0 1
Familial cancer of breast; Familial prostate cancer 1 0 0 0 1
Familial cold autoinflammatory syndrome 2 0 0 1 0 1
Familial partial lipodystrophy, Dunnigan type 0 1 0 0 1
Fliedner-Zweier syndrome 0 0 1 0 1
Galloway-Mowat syndrome 7 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 10 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 1 0 0 0 1
Global developmental delay with or without impaired intellectual development 0 0 0 1 1
Global developmental delay with speech and behavioral abnormalities 1 0 0 0 1
Glycogen storage disease IXa1 0 0 1 0 1
Glycogen storage disease, type V 1 0 0 0 1
Gnb5-related intellectual disability-cardiac arrhythmia syndrome; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 1 0 0 0 1
Growth delay due to insulin-like growth factor type 1 deficiency 0 0 1 0 1
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 0 0 1 0 1
Hereditary liability to pressure palsies 1 0 0 0 1
Hereditary spastic paraplegia 10 1 0 0 0 1
Hereditary spastic paraplegia 18 0 0 1 0 1
Hereditary spastic paraplegia 57 1 0 0 0 1
Hereditary spastic paraplegia 9A 0 0 1 0 1
Hereditary spherocytosis type 2 0 0 1 0 1
Hereditary spherocytosis type 4 1 0 0 0 1
Holoprosencephaly 12 with or without pancreatic agenesis 0 0 1 0 1
Houge-Janssens syndrome 1 0 0 1 0 1
Hyperaldosteronism, familial, type IV 0 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 0 1
Hyperpigmentation with or without hypopigmentation, familial progressive 1 0 0 0 1
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D 0 1 0 0 1
Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y 0 0 1 0 1
Hypogonadotropic hypogonadism 5 with or without anosmia 0 1 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia 1 0 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 0 1 0 1
Hypotonia, ataxia, and delayed development syndrome 0 0 1 0 1
Ichthyosis vulgaris 1 0 0 0 1
Idiopathic basal ganglia calcification 1 1 0 0 0 1
Imagawa-Matsumoto syndrome 0 1 0 0 1
Immunodeficiency, common variable, 2 0 1 0 0 1
Infantile convulsions and choreoathetosis 1 0 0 0 1
Intellectual developmental disorder 59 0 1 0 0 1
Intellectual developmental disorder 60 with seizures 0 0 1 0 1
Intellectual developmental disorder 62 0 0 1 0 1
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 0 1 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 0 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 0 1 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 1 0 0 0 1
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 1 0 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 1 0 1
Intellectual developmental disorder with seizures and language delay 0 1 0 0 1
Intellectual developmental disorder with severe speech and ambulation defects 0 0 1 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 0 1
Intellectual developmental disorder, X-linked 112 0 0 1 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 66 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 67 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 0 0 1 0 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 1
Intellectual disability, X-linked 105 0 0 1 0 1
Intellectual disability, X-linked 21 0 0 1 0 1
Intellectual disability, X-linked 41 0 0 1 0 1
Intellectual disability, X-linked 97 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 1 0 0 0 1
Intellectual disability, autosomal dominant 10 0 0 1 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 1
Intellectual disability, autosomal dominant 22 1 0 0 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 1
Intellectual disability, autosomal dominant 29 0 0 1 0 1
Intellectual disability, autosomal dominant 30 0 1 0 0 1
Intellectual disability, autosomal dominant 39 0 1 0 0 1
Intellectual disability, autosomal dominant 40 1 0 0 0 1
Intellectual disability, autosomal dominant 42 0 0 1 0 1
Intellectual disability, autosomal dominant 43 0 0 1 0 1
Intellectual disability, autosomal dominant 48 1 0 0 0 1
Intellectual disability, autosomal dominant 5 1 0 0 0 1
Intellectual disability, autosomal dominant 52 0 0 1 0 1
Intellectual disability, autosomal dominant 54 0 0 1 0 1
Intellectual disability, autosomal dominant 58 1 0 0 0 1
Intellectual disability, autosomal dominant 6 1 0 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 0 1
Intellectual disability, autosomal recessive 51 0 1 0 0 1
Intellectual disability, autosomal recessive 53 1 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 1
KDM5A-associated neurodevelopmental syndrome 0 1 0 0 1
Kabuki syndrome 1 0 0 1 0 1
Kabuki syndrome 2 0 0 1 0 1
Keipert syndrome 0 1 0 0 1
Keratosis palmoplantaris striata 2 0 1 0 0 1
Kleefstra syndrome 2 0 0 1 0 1
Koolen-de Vries syndrome 0 1 0 0 1
LEOPARD syndrome 1 0 1 0 0 1
Lamb-Shaffer syndrome 0 0 1 0 1
Lambdoidal craniosynostosis 0 0 1 0 1
Larsen syndrome 0 0 1 0 1
Leber optic atrophy 1 0 0 0 1
Left ventricular noncompaction 10 1 0 0 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 1 0 0 1
Levy-Hollister syndrome 0 1 0 0 1
Liddle syndrome 3 0 0 1 0 1
Linear skin defects with multiple congenital anomalies 1 0 0 1 0 1
Lissencephaly due to TUBA1A mutation 0 0 1 0 1
Loeys-Dietz syndrome 1 0 1 0 0 1
Loeys-Dietz syndrome 4 1 0 0 0 1
Long QT syndrome 2 0 1 0 0 1
Long QT syndrome 3 0 1 0 0 1
Luo-Schoch-Yamamoto syndrome 0 0 1 0 1
Lymphatic malformation 3 0 0 1 0 1
Lynch syndrome 1 0 1 0 0 1
Lynch syndrome 5 1 0 0 0 1
MELAS syndrome 1 0 0 0 1
MYH7-related skeletal myopathy 0 1 0 0 1
Macrocephaly, acquired, with impaired intellectual development 1 0 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 0 0 0 1
Malaria, susceptibility to 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 5 0 1 0 0 1
Marbach-Schaaf neurodevelopmental syndrome 0 0 1 0 1
Marshall-Smith syndrome 1 0 0 0 1
Martsolf syndrome 2 1 0 0 0 1
Medulloblastoma 0 0 1 0 1
Metachromatic leukodystrophy 1 0 0 0 1
Microcephalic osteodysplastic dysplasia, Saul-Wilson type 0 0 1 0 1
Microcephaly 18, primary, autosomal dominant 1 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 0 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 1 0 0 1
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 0 1 0 1
Mowat-Wilson syndrome 0 1 0 0 1
Moyamoya disease 2 0 1 0 0 1
Mucolipidosis type IV 0 1 0 0 1
Muenke syndrome 1 0 0 0 1
Multicentric carpo-tarsal osteolysis with or without nephropathy 0 1 0 0 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 1 0 0 0 1
Multiple congenital exostosis 1 0 0 0 1
Multiple cutaneous and mucosal venous malformations 0 0 1 0 1
Multiple endocrine neoplasia type 2B 1 0 0 0 1
Multiple endocrine neoplasia, type 1 0 1 0 0 1
Myasthenic syndrome, congenital, 22 1 0 0 0 1
Myoclonic dystonia 11 1 0 0 0 1
Myofibrillar myopathy 3 0 0 1 0 1
Myofibrillar myopathy 5 0 0 1 0 1
Myofibrillar myopathy 8 1 0 0 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 0 1 0 1
Nager syndrome 0 0 1 0 1
Neurodegeneration with ataxia and late-onset optic atrophy 0 0 1 0 1
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 1 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities 1 0 0 0 1
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and dysmorphic facies 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 0 1 0 1
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0 0 1 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 0 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 0 0 0 1
Neurofibromatosis, type 1 0 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 7 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 5A 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 5B 0 0 1 0 1
Neuropathy, hereditary motor and sensory, type 6A 0 0 1 0 1
Nicolaides-Baraitser syndrome 0 0 1 0 1
Nizon-Isidor syndrome 0 0 1 0 1
Noonan syndrome 10 0 0 1 0 1
Noonan syndrome 4 0 0 1 0 1
Noonan syndrome 5 0 0 1 0 1
Nystagmus 1, congenital, X-linked 0 1 0 0 1
Occult macular dystrophy 0 1 0 0 1
Oculocerebrofacial syndrome, Kaufman type 1 0 0 0 1
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 1 0 0 0 1
Oculocutaneous albinism type 4 1 0 0 0 1
Ogden syndrome 0 0 1 0 1
Orofacial cleft 5 1 0 0 0 1
Orofaciodigital syndrome 17 0 0 1 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I 1 0 0 0 1
Ovarian dysgenesis 10 0 1 0 0 1
PPARG-related familial partial lipodystrophy 0 0 1 0 1
Pancreatic cancer, susceptibility to, 3 1 0 0 0 1
Parkinson disease, late-onset 0 1 0 0 1
Parkinsonian-pyramidal syndrome 1 0 0 0 1
Partial androgen insensitivity syndrome 1 0 0 0 1
Patent ductus arteriosus 2 0 1 0 0 1
Periventricular nodular heterotopia 6 0 1 0 0 1
Periventricular nodular heterotopia 9 0 0 1 0 1
Peters plus syndrome 1 0 0 0 1
Pfeiffer syndrome 1 0 0 0 1
Pigmented paravenous retinochoroidal atrophy 0 0 1 0 1
Pituitary hormone deficiency, combined or isolated, 8 1 0 0 0 1
Pituitary hormone deficiency, combined, 2 1 0 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 1
Posterior polymorphous corneal dystrophy 3; Corneal dystrophy, Fuchs endothelial, 6 0 1 0 0 1
Primary ciliary dyskinesia 18 0 0 1 0 1
Primary ciliary dyskinesia 9 1 0 0 0 1
Primrose syndrome 0 0 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 0 0 1 0 1
Prostate cancer 1 0 0 0 1
Prostate cancer, hereditary, 9 0 0 1 0 1
Radioulnar synostosis 0 0 1 0 1
Rahman syndrome 1 0 0 0 1
Retinitis pigmentosa 11 0 0 1 0 1
Retinitis pigmentosa 12 0 1 0 0 1
Retinitis pigmentosa 25 1 0 0 0 1
Retinitis pigmentosa 3 1 0 0 0 1
Retinitis pigmentosa 37 1 0 0 0 1
Retinitis pigmentosa 38 1 0 0 0 1
Retinitis pigmentosa 4 1 0 0 0 1
Retinitis pigmentosa 7; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3 1 0 0 0 1
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 0 0 1 0 1
STING-associated vasculopathy with onset in infancy 1 0 0 0 1
Schinzel-Giedion syndrome 0 0 1 0 1
Sclerosteosis 2 0 0 1 0 1
Seizures, benign familial infantile, 2 1 0 0 0 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1 1 0 0 0 1
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 0 0 1 0 1
Seizures, benign familial neonatal, 2 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 1 0 1
Sialuria 0 0 1 0 1
Simpson-Golabi-Behmel syndrome type 1 0 0 1 0 1
Smith-Magenis syndrome 0 1 0 0 1
Smith-McCort dysplasia 2 1 0 0 0 1
Spinocerebellar ataxia type 13 1 0 0 0 1
Spinocerebellar ataxia type 14 0 1 0 0 1
Spinocerebellar ataxia type 19/22 0 1 0 0 1
Spinocerebellar ataxia type 26 0 0 1 0 1
Spinocerebellar ataxia type 40 0 0 1 0 1
Split hand-foot malformation 6 0 1 0 0 1
Spondyloperipheral dysplasia 0 0 1 0 1
Stickler syndrome type 1 0 1 0 0 1
Stickler syndrome, type I, nonsyndromic ocular 1 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 0 0 1
Supravalvar aortic stenosis 0 1 0 0 1
Symphalangism, proximal, 1B 0 1 0 0 1
Syndromic X-linked intellectual disability 94 0 0 1 0 1
Syndromic X-linked intellectual disability Nascimento type 0 0 1 0 1
TCF12-related craniosynostosis; Hypogonadotropic hypogonadism 26 with or without anosmia 0 1 0 0 1
Thrombocytopenia 5 1 0 0 0 1
Thrombophilia due to activated protein C resistance 1 0 0 0 1
Tibial muscular dystrophy 0 0 1 0 1
Timothy syndrome 0 0 1 0 1
Tolchin-Le Caignec syndrome 0 0 1 0 1
Tooth agenesis, selective, 4 1 0 0 0 1
Tremor, hereditary essential, 5 0 0 1 0 1
Tuberous sclerosis 1 1 0 0 0 1
Tuberous sclerosis 2 1 0 0 0 1
Uruguay Faciocardiomusculoskeletal syndrome 1 0 0 0 1
Usher syndrome type 3A 1 0 0 0 1
Van der Woude syndrome 2 0 0 1 0 1
Variegate porphyria 1 0 0 0 1
Ververi-Brady syndrome 0 0 1 0 1
Vissers-Bodmer syndrome 0 1 0 0 1
Vitamin D hydroxylation-deficient rickets, type 1B 0 0 1 0 1
Waardenburg syndrome type 1; Craniofacial-deafness-hand syndrome; Waardenburg syndrome type 3 0 0 1 0 1
Welander distal myopathy 1 0 0 0 1
Wieacker-Wolff syndrome, female-restricted 0 1 0 0 1
Williams syndrome 0 0 1 0 1
Wolfram syndrome 1 1 0 0 0 1
X-linked Opitz G/BBB syndrome 1 0 0 0 1
X-linked cone-rod dystrophy 1 1 0 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 1 0 0 0 1
X-linked intellectual disability Cabezas type 0 0 1 0 1
X-linked myopathy with postural muscle atrophy 1 0 0 0 1
ZTTK syndrome 1 0 0 0 1

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