ClinVar Miner

Variants from Undiagnosed Diseases Network, NIH

Location: United States  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
389 303 310 1 0 998

Gene and significance breakdown #

Total genes and gene combinations: 694
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CLASP1, RNU4ATAC 4 4 1 0 9
RNU2-2, WDR74 1 6 2 0 9
TBCK 5 2 0 0 7
TTN 3 3 0 1 7
IRF2BPL 1 5 0 0 6
MECP2 6 0 0 0 6
POLR3A 1 2 3 0 6
CACNA1A 1 4 0 0 5
CDKL5 3 2 0 0 5
CFTR 5 0 0 0 5
PI4KA 0 3 2 0 5
RYR1 0 2 3 0 5
AFG3L2 1 2 1 0 4
DMD 3 1 0 0 4
HARS1 1 1 2 0 4
HGSNAT 2 0 2 0 4
KMT2B 3 1 0 0 4
NBAS 1 1 2 0 4
NUBPL 2 1 3 0 4
RNU4-2, SIRT4 3 1 0 0 4
RNU6ATAC 0 0 4 0 4
SLC20A2 4 0 0 0 4
SNORD118, TMEM107 0 2 2 0 4
TONSL 0 0 4 0 4
ALDH18A1 3 0 0 0 3
ALG1 0 3 0 0 3
ALPL 2 0 1 0 3
ATP13A2 3 0 0 0 3
ATP1A3 2 1 0 0 3
ATP5F1A 1 0 2 0 3
CCDST, FLG 3 0 0 0 3
COL4A1 1 2 0 0 3
DYNC1H1 1 1 1 0 3
EFL1 0 1 2 0 3
EIF2AK2 1 0 2 0 3
FBN1 2 1 0 0 3
GH-LCR, SCN4A 2 1 0 0 3
IL6ST 0 0 3 0 3
LAMA1 1 1 1 0 3
MTOR 2 1 0 0 3
NPHP3-ACAD11, UBA5 2 1 0 0 3
NSD2 1 1 1 0 3
PLA2G6 0 2 1 0 3
POLR3B 2 1 0 0 3
PRNP 1 0 2 0 3
RBM28 0 1 2 0 3
RFC4 1 2 0 0 3
SELENON 0 3 0 0 3
USP9X 1 0 2 0 3
VARS2 0 0 3 0 3
WWOX 2 1 0 0 3
ABCA2 0 0 2 0 2
ACADM 2 0 0 0 2
ADNP 2 0 0 0 2
AFG2A 0 2 0 0 2
AFG2B 0 1 1 0 2
AGTPBP1 2 0 0 0 2
AIFM1, RAB33A 0 1 1 0 2
ANK3 1 1 0 0 2
AP5Z1 0 0 2 0 2
ARMC9 0 0 2 0 2
ASXL1 2 0 0 0 2
ASXL3 1 1 0 0 2
ATG4D 2 0 0 0 2
AUTS2 1 1 0 0 2
BAP1 0 1 1 0 2
C12orf57, RNU7-1 1 0 1 0 2
CACNA1B 0 0 2 0 2
CACNA1C 0 1 1 0 2
CACNA1E 1 0 1 0 2
CACNA2D1 0 2 0 0 2
CAMK2B 1 0 1 0 2
CAPN1 0 1 1 0 2
CDC45 0 2 0 0 2
CDK13 0 2 0 0 2
CHD7 2 0 0 0 2
CHKB, CHKB-CPT1B 1 0 1 0 2
CHRNA3 0 0 2 0 2
CIT 0 0 2 0 2
COL2A1 1 1 0 0 2
COL5A2 0 2 0 0 2
COL6A1 1 1 0 0 2
COL7A1 2 0 0 0 2
COLQ 1 1 0 0 2
COPB2 0 0 2 0 2
CRELD1 0 0 2 0 2
CTNS 2 0 0 0 2
CTSA 1 0 1 0 2
CYP2U1 1 1 0 0 2
DCT 2 0 0 0 2
DDX3X 0 2 0 0 2
DNAH11 2 0 0 0 2
DNAH11, LOC126859961 0 1 1 0 2
DNASE1L3 1 0 1 0 2
DONSON 2 0 0 0 2
DPP9, LOC126862841 0 0 2 0 2
EBF3 1 0 1 0 2
EIF3F 1 1 0 0 2
ERCC4 1 1 0 0 2
FAT4 0 0 2 0 2
FCSK 0 0 2 0 2
FITM2 0 1 1 0 2
FOXG1 2 0 0 0 2
GATAD2B 2 0 0 0 2
GBE1 2 0 0 0 2
GDF11 0 0 2 0 2
GGPS1 0 0 2 0 2
GLYR1 0 0 2 0 2
GNAS 0 1 1 0 2
GRIN2B 0 2 0 0 2
GYG1 2 0 0 0 2
HADHA 1 0 1 0 2
HADHB 1 0 1 0 2
HNRNPK 0 2 0 0 2
HSD17B4 0 2 0 0 2
HTRA2, LOXL3 1 1 0 0 2
IARS2 0 0 2 0 2
IFIH1 0 0 2 0 2
IGHMBP2 1 0 1 0 2
IKBKG 1 1 0 0 2
INTS11 0 2 0 0 2
IQCB1 2 0 0 0 2
IRAK1BP1, PHIP 2 0 0 0 2
IRAK4 2 0 0 0 2
JAG2 0 0 2 0 2
KAT6B 0 1 1 0 2
KCTD7 0 2 0 0 2
KMO 0 0 2 0 2
KMT2C 1 1 1 0 2
KRAS 0 2 0 0 2
LMNA 0 2 0 0 2
LZTR1 1 0 1 0 2
MADD 1 0 1 0 2
MAGEL2 1 1 0 0 2
MAP2K1 2 0 0 0 2
MAP4 0 0 2 0 2
MBOAT7 1 1 0 0 2
MECR 1 0 1 0 2
MIPEP 0 1 1 0 2
MORC2 0 2 0 0 2
MRE11 1 1 0 0 2
MRTFB 2 0 0 0 2
MSTO1 0 2 0 0 2
MTHFS, ST20-MTHFS 0 2 0 0 2
MYCBP2 0 1 1 0 2
MYMK 1 1 0 0 2
NAGLU 2 0 0 0 2
NALCN 1 1 0 0 2
NAV2 0 0 2 0 2
NEK9 0 0 2 0 2
NEUROG3 1 0 1 0 2
NGLY1 0 1 1 0 2
NLRP12 0 0 2 0 2
NOD2 0 0 2 0 2
NTNG2 0 1 1 0 2
ORC3 0 2 0 0 2
OTUD4 0 0 2 0 2
PAH 2 0 0 0 2
PAPSS1 0 0 2 0 2
PDGFB 1 1 0 0 2
PEX11B 2 0 0 0 2
PEX6 0 2 0 0 2
PIEZO2 1 1 0 0 2
PIGL 1 1 0 0 2
PIGN 2 0 0 0 2
PIGQ 0 1 1 0 2
PIK3CA 2 0 0 0 2
PIP5K1C 1 0 1 0 2
PLXNA1 0 1 1 0 2
PLXND1 0 0 2 0 2
POLG 2 0 0 0 2
POLG, POLGARF 0 0 2 0 2
PPRC1 0 0 2 0 2
PRDX3 2 0 0 0 2
PTCH1 1 0 1 0 2
PURA 0 2 0 0 2
PUS7 0 0 2 0 2
RAB5C 0 0 2 0 2
RAPSN 2 0 0 0 2
RARS2 2 0 0 0 2
RHOBTB2 0 2 0 0 2
RIC3, TUB 1 1 0 0 2
RNH1 0 0 2 0 2
RNU12 1 1 0 0 2
ROGDI 2 0 0 0 2
RPL13 2 0 0 0 2
RPS6KA3 1 1 0 0 2
RYBP 0 0 2 0 2
SARS1 0 0 2 0 2
SARS2 0 2 0 0 2
SDHA 1 0 1 0 2
SEPSECS 1 1 0 0 2
SET 1 1 0 0 2
SGCA 1 1 0 0 2
SLC17A5 1 1 0 0 2
SLC25A46 0 2 0 0 2
SLC35B2 2 0 0 0 2
SLC38A8 0 1 1 0 2
SLC52A3 0 0 2 0 2
SMPD4 0 1 1 0 2
SNAPC4 2 0 0 0 2
SPG11 2 0 0 0 2
SPG7 2 0 0 0 2
SPOP 1 0 1 0 2
SPTBN1 1 0 1 0 2
STAT3 1 0 1 0 2
SYNE1 1 0 1 0 2
SYNGAP1 2 0 0 0 2
TANGO2 2 0 0 0 2
TARS2 0 2 0 0 2
TBCD 0 2 0 0 2
TH 0 0 2 0 2
TMEM161B 0 0 2 0 2
TMEM208 0 0 2 0 2
TMEM94 2 0 0 0 2
TNPO2 0 1 1 0 2
TOP3A 0 1 1 0 2
TOR1AIP1 0 1 1 0 2
TRIP11 2 0 0 0 2
TTI1 0 1 1 0 2
TUBB4A 1 1 0 0 2
TYR 0 0 2 0 2
UNC45A 0 0 2 0 2
UNC93B1 0 2 0 0 2
UTP20 0 0 2 0 2
VARS1 0 1 1 0 2
VPS13D 1 1 0 0 2
VPS45 2 0 0 0 2
WARS2 0 2 0 0 2
WFS1 1 1 0 0 2
ZC4H2 1 1 0 0 2
ZFX 1 1 0 0 2
ZNF292 0 2 0 0 2
​intergenic 1 0 0 0 1
ABCD1, PLXNB3 0 1 0 0 1
ACOX1 1 0 0 0 1
ACTA1 1 0 0 0 1
ACTG1 0 1 0 0 1
ACTN2 1 0 0 0 1
ACVR1 1 0 0 0 1
ADAM17, CPSF3, IAH1, LOC129933054 1 0 0 0 1
ADCY2 0 0 1 0 1
ADCY5 0 1 0 0 1
ADGRV1 0 1 0 0 1
ADSS1 1 0 0 0 1
AGRN 1 0 0 0 1
AGRN, PERM1 1 0 0 0 1
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, CELSR2, CFAP276, CLCC1, CSF1, CYB561D1, EEIG2, ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNC4, LAMTOR5, MIR197, MYBPHL, NBPF4, NBPF6, NTNG1, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, SARS1, SLC16A4, SLC25A24, SLC6A17, SORT1, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, WDR47 0 1 0 0 1
AHDC1, LOC105376892, LOC129929885, LOC129929886, LOC129929887, LOC129929888, LOC129929889, LOC129929890 1 0 0 0 1
AIRE 0 0 1 0 1
ALDH7A1, LMNB1, LMNB1-DT, LOC112997555, LOC129389358, LOC129389359, LOC129994503, LOC129994504, LOC129994505, PHAX, SPMIP10 1 0 0 0 1
ALG13 1 0 0 0 1
ALMS1 0 1 0 0 1
ALPK1 1 0 0 0 1
AMER1 1 0 0 0 1
ANTXR2 1 0 0 0 1
ANXA11 1 0 0 0 1
AP4M1 0 0 1 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, LOC111365170, LOC116309162, LOC125467793, 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, OPSIN-LCR, RENBP, TMEM187 1 0 0 0 1
ARHGEF9 1 0 0 0 1
ARID1B 1 0 0 0 1
ARID1B, LOC123881345 0 1 0 0 1
ARL17B, KANSL1, LOC112533643, LOC126862577, LOC129390878, LRRC37A, LRRC37A2 1 0 0 0 1
ARMC5, BCKDK, BCL7C, CFAP119, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, RUSF1, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843 0 0 1 0 1
ARV1 0 0 1 0 1
ARX, LOC109610631 1 0 0 0 1
ASIC2 1 0 0 0 1
ASPA, CTNS, EMC6, HASPIN, ITGAE, P2RX5, SHPK, TAX1BP3, TRPV1, TRPV3 0 1 0 0 1
ASXL2 1 0 0 0 1
ATAD3A 1 0 0 0 1
ATAD3A, ATAD3B, ATAD3C 0 0 1 0 1
ATM, C11orf65 0 0 1 0 1
ATP1A1 1 0 0 0 1
ATP1A2 0 0 1 0 1
ATP5F1D 1 0 0 0 1
ATP5PO, LOC126653351 1 0 0 0 1
ATP6V0A1 1 0 0 0 1
ATP6V1A 0 1 0 0 1
ATP7A 1 0 0 0 1
ATRX 0 1 0 0 1
AUTS2, LOC108004522, LOC110120735, LOC110121097, LOC110121298, LOC110121299, LOC110121300, LOC129998558 1 0 0 0 1
AXIN2 0 0 1 0 1
BARD1 0 1 0 0 1
BCKDK 0 0 1 0 1
BDH1, DRC9, FAM157A, FYTTD1, LINC02012, LMLN, LOC107133517, LOC111828515, LOC112268458, LOC112935925, LOC112935926, LOC123464504, LOC123464505, LOC123464506, LOC126806936, LOC126806937, LOC126806938, LOC129389198, LOC129389199, LOC129389200, LOC129389201, LOC129938315, LOC129938316, LOC129938317, LOC129938318, LOC129938319, LOC129938320, LOC129938321, LOC129938322, LOC129938323, LOC129938324, LOC129938325, LOC129938326, LOC129938327, LOC129938328, LOC129938329, LOC129938330, LRCH3, MIR922, RPL35A, RUBCN 1 0 0 0 1
BICRA 0 0 1 0 1
BLK 0 1 0 0 1
BRAF 0 1 0 0 1
C1R 1 0 0 0 1
CACNA1D 1 0 0 0 1
CADM3 0 0 1 0 1
CALM1, LOC126862021 0 1 0 0 1
CAMK2D 0 1 0 0 1
CAPN15 0 1 0 0 1
CARD11 1 0 0 0 1
CARMIL2 1 0 0 0 1
CARMN, MIR145 0 0 1 0 1
CASD1, SGCE 0 1 0 0 1
CASK 0 1 0 0 1
CATSPER2, CKMT1B, STRC 1 0 0 0 1
CBL 0 1 0 0 1
CCDC107, RMRP 1 0 0 0 1
CDC42 1 0 0 0 1
CDH1 0 1 0 0 1
CDH2 1 0 0 0 1
CDK19 0 0 1 0 1
CDK8 0 1 0 0 1
CDKL2 0 1 0 0 1
CDKL5, LOC121853052, LOC130067999 1 0 0 0 1
CDKN1C 0 1 0 0 1
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 1
CHD3 0 0 1 0 1
CHD8 0 1 0 0 1
CITED2 0 1 0 0 1
CLCN6 0 0 1 0 1
CLCN7 1 0 0 0 1
CLDN5 1 0 0 0 1
CLPP 1 0 0 0 1
CLPP, LOC130063288 0 1 0 0 1
CLTC 1 0 0 0 1
CLTC, LOC125177523, LOC126862609, LOC130061329, PTRH2 0 1 0 0 1
CNIH4, LOC112577544, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, MIR4742, NVL, WDR26 1 0 0 0 1
CNTNAP1 0 1 0 0 1
COG4 1 0 0 0 1
COL1A1, LOC130061152 0 0 1 0 1
COL1A2 0 0 1 0 1
COX20 1 0 0 0 1
COX20, LOC129932912 1 0 0 0 1
CPSF3 0 0 1 0 1
CPSF3, LOC105373418, LOC112841605, LOC129933057, LOC129933058, LOC129933059, LOC129933060, LOC129933061, LOC129933062, LOC129933063, LOC129933064, LOC129933065, LOC129933066, LOC129933067, LOC129933068, LOC129933069, LOC129933070, LOC129933071, LOC129933072, LOC129933073, LOC129933074, LOC129933075, LOC129933076, LOC129933077, YWHAQ 0 0 1 0 1
CREBBP 1 0 0 0 1
CTNNA1 0 1 0 0 1
CTNNB1 0 1 0 0 1
CXorf65, IL2RG 1 0 0 0 1
CYFIP1, LOC112272575, LOC112272576, LOC126862074, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC283683, NIPA1, NIPA2, TUBGCP5 1 0 0 0 1
DAGLA 0 0 1 0 1
DCX 0 0 1 0 1
DDC 1 0 0 0 1
DEGS1 1 0 0 0 1
DEGS1, LOC129932580, LOC129932581, LOC129932582 1 0 0 0 1
DENND5B 0 1 0 0 1
DEPDC5, LINC02558, LOC125446219, LOC126863124, LOC129391278, LOC130067263, LOC130067264, LOC130067265, LOC130067266, NOA3, YWHAH 1 0 0 0 1
DES 1 0 0 0 1
DHX9 0 0 1 0 1
DLAT 0 0 1 0 1
DNM1 0 0 1 0 1
DNM1L 0 1 0 0 1
DOHH 0 1 0 0 1
DOT1L 1 0 0 0 1
DPH1 0 0 1 0 1
DPH5 1 0 0 0 1
DPH5, SLC30A7 1 0 0 0 1
DPRX, LOC126862930, ZNF331 0 0 1 0 1
DROSHA 0 0 1 0 1
DSP 1 0 0 0 1
DYRK1A 1 0 0 0 1
EED 0 1 0 0 1
EEF1A2 1 0 0 0 1
EFCAB10, RINT1 0 0 1 0 1
EFEMP1 0 1 0 0 1
EFTUD2 1 0 0 0 1
EHMT1 0 1 0 0 1
EHMT1, LOC130003141, LOC130003142 1 0 0 0 1
EHMT2 1 0 0 0 1
EIF2AK1 0 0 1 0 1
EIF2S3 0 1 0 0 1
EIF4A2 1 0 0 0 1
EIF4A2, RFC4 1 0 0 0 1
ELFN1, LNCRI, LOC123924889, LOC129997785 0 0 1 0 1
ENG 1 0 0 0 1
EP300 0 0 1 0 1
EPG5 1 0 0 0 1
ERF 1 0 0 0 1
EVI5 0 0 1 0 1
EZH1 0 0 1 0 1
F5 1 0 0 0 1
FA2H, LOC130059394 0 1 0 0 1
FAM13A 0 1 0 0 1
FAM177A1, LOC101927178, PPP2R3C 0 1 0 0 1
FAM177A1, LOC130055482, LOC130055483, LOC130055484, LOC130055485 0 1 0 0 1
FANCD2, FANCD2OS 1 0 0 0 1
FANCD2, LOC107303338 0 0 1 0 1
FAR1 1 0 0 0 1
FAS 0 1 0 0 1
FBN2 0 0 1 0 1
FBXO11 0 1 0 0 1
FBXO11, MSH6 1 0 0 0 1
FGF12 0 1 0 0 1
FHL1 0 1 0 0 1
FKRP 1 0 0 0 1
FKRP, LOC130064775, STRN4 1 0 0 0 1
FLNA 0 0 1 0 1
GABRA3 0 0 1 0 1
GABRA4 0 0 1 0 1
GABRB2 0 1 0 0 1
GABRG2 1 0 0 0 1
GATA2 1 0 0 0 1
GCH1 0 0 1 0 1
GDAP2 1 0 0 0 1
GET4 0 0 1 0 1
GFAP 0 0 1 0 1
GJB2 1 0 0 0 1
GLS 1 0 0 0 1
GLUL 0 0 1 0 1
GLUL, LOC126805944 0 1 0 0 1
GNAO1 0 1 0 0 1
GNAQ 1 0 0 0 1
GNB2 1 0 0 0 1
GRIN2A 0 1 0 0 1
GTF2I 0 0 1 0 1
GTPBP1 0 0 1 0 1
H3-3A 0 1 0 0 1
H4C5 1 0 0 0 1
H4C5, LOC129996027 1 0 0 0 1
HCFC1 1 0 0 0 1
HDAC8, LOC130068439, PHKA1 1 0 0 0 1
HECW2 0 0 1 0 1
HEPACAM 0 0 1 0 1
HK1 0 1 0 0 1
HNRNPA1 0 0 1 0 1
HPRT1, LOC107032760, LOC129929046, LOC129929047 1 0 0 0 1
HSPB8 0 1 0 0 1
HTRA1 0 0 1 0 1
HUWE1 1 0 0 0 1
IDH3G, PLXNB3, SRPK3, SSR4 1 0 0 0 1
IKZF3, LOC130060781 1 0 0 0 1
IMPDH2 0 1 0 0 1
IQGAP1 0 0 1 0 1
ITPA 1 0 0 0 1
ITPR1 0 1 0 0 1
JAG1 1 0 0 0 1
KARS1 1 0 0 0 1
KCNA2 1 0 0 0 1
KCNC1 1 0 0 0 1
KCNC2 0 0 1 0 1
KCNMA1 1 0 0 0 1
KDM2A 0 0 1 0 1
KDR 0 0 1 0 1
KIF1A 1 0 0 0 1
KIF21A 0 0 1 0 1
KIF2A 0 1 0 0 1
KIF5B 0 0 1 0 1
KLF7 0 1 0 0 1
KMT2A 1 0 0 0 1
KMT2D 0 0 1 0 1
KPNA4 0 0 1 0 1
LAMA2 0 0 1 0 1
LAMA2, LOC123864065 0 0 1 0 1
LAMP3 0 0 1 0 1
LARGE1 0 0 1 0 1
LARP7 0 1 0 0 1
LARP7, MIR302CHG 0 1 0 0 1
LIG3 1 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 1
LOC106694316, MPO 1 0 0 0 1
LOC112695092, LOC130067400, LOC130067401, PLA2G6 1 0 0 0 1
LOC126653398, TSPEAR 0 1 0 0 1
LOC126805704, SNIP1 0 0 1 0 1
LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 1 0 0 0 1
LOC126806878, TBL1XR1 1 0 0 0 1
LOC126863253, UBA1 1 0 0 0 1
LOC129931299, WARS2 1 1 0 0 1
LOC129992015, LOC129992016, NSD2 0 0 1 0 1
LOC129993801, NADK2 0 0 1 0 1
LOC129994186, MEF2C 1 0 0 0 1
LOC130004599, NFKB2 0 0 1 0 1
LOC130005368, RRAS2 1 0 0 0 1
LOC130008660, POLR3B 0 0 1 0 1
LOC130009384, LOC130009385, MIPEP 0 1 0 0 1
LOC130009386, MIPEP 1 0 0 0 1
LOC130061928, NDUFAF8 1 0 0 0 1
LOC130067533, LOC130067534, LOC130067535, LOC130067536, RANGAP1 1 0 0 0 1
LOC130068372, LOC130068373, LOC130068374, ZC3H12B, ZC4H2 1 0 0 0 1
LOC130068573, LOC130068574, WDR44 0 1 0 0 1
LOC130068838, LOC130068839, NAA10 0 0 1 0 1
LOC132090430, WWOX 1 0 0 0 1
LONP1 0 0 1 0 1
LOX, SRFBP1 0 0 1 0 1
LPO, MPO 1 0 0 0 1
LRCH2, RBMXL3 0 0 1 0 1
LRP6 1 0 0 0 1
LRRC37A2, NSF 0 0 1 0 1
LRSAM1, NIBAN2, STXBP1 1 0 0 0 1
MAGT1 0 0 1 0 1
MAP2K2 0 1 0 0 1
MAP3K20 0 1 0 0 1
MAP3K7 0 1 0 0 1
MAPK8IP3 0 1 0 0 1
MAST3 0 0 1 0 1
MBD5 0 0 1 0 1
MBTPS2 0 1 0 0 1
MCCC2 1 0 0 0 1
MED12 1 0 0 0 1
MED12L, P2RY12 0 0 1 0 1
MFN2 1 0 0 0 1
MME 0 1 0 0 1
MPEG1 0 0 1 0 1
MPV17 1 0 0 0 1
MPV17, TRIM54, UCN 0 1 0 0 1
MPZ 0 0 1 0 1
MRPS34 1 0 0 0 1
MSL2 1 0 0 0 1
MT-ATP6 1 0 0 0 1
MT-ND1 0 1 0 0 1
MT-TF 0 1 0 0 1
MT-TH 0 1 0 0 1
MT-TI 1 0 0 0 1
MT-TK 1 0 0 0 1
MT-TL1 1 0 0 0 1
MT-TQ 1 0 0 0 1
MT-TT 1 0 0 0 1
MTMR8 0 0 1 0 1
MTSS2 0 1 0 0 1
MVK 1 0 0 0 1
MYBPC1 0 1 0 0 1
MYH2, MYHAS 0 1 0 0 1
NAA10 0 0 1 0 1
NACC1 1 0 0 0 1
NARS1 0 0 1 0 1
NBEA 0 1 0 0 1
NDUFAF8 1 0 0 0 1
NEUROD2 0 0 1 0 1
NF1 1 0 0 0 1
NFIX 0 0 1 0 1
NHERF1 0 1 0 0 1
NLRP3 0 0 1 0 1
NOTCH1 1 0 0 0 1
NPC1 1 0 0 0 1
NR2F2 0 0 1 0 1
NR5A1 0 0 1 0 1
NTRK2 0 1 0 0 1
NUDT2 0 1 0 0 1
NUS1 0 1 0 0 1
ODC1 0 1 0 0 1
OPHN1 0 1 0 0 1
OTUD5 1 0 0 0 1
P2RX5-TAX1BP3, TAX1BP3 0 1 0 0 1
PARN 0 1 0 0 1
PDHA1 0 0 1 0 1
PERCC1 0 1 0 0 1
PEX1 1 0 0 0 1
PHACTR1 0 1 0 0 1
PKD1 0 0 1 0 1
PLCG1 0 0 1 0 1
PLS3 0 1 0 0 1
PMM2 0 0 1 0 1
PMP22 0 0 1 0 1
PNPT1 0 1 0 0 1
POC1A 0 0 1 0 1
POC5 0 0 1 0 1
POGZ 0 0 1 0 1
POLR3H 0 0 1 0 1
POMP 1 0 0 0 1
PPFIA3 0 0 1 0 1
PPM1D 1 0 0 0 1
PPP2R1A 0 1 0 0 1
PPP2R5C 0 1 0 0 1
PPP3CA 1 0 0 0 1
PPP5C 0 0 1 0 1
PQBP1 0 0 1 0 1
PRDM16 0 0 1 0 1
PRELP 0 0 1 0 1
PRKAR1B 1 0 0 0 1
PRPS1 0 1 0 0 1
PRUNE1 0 0 1 0 1
PSEN1 0 1 0 0 1
PSMB8 0 0 1 0 1
PSMC5 0 1 0 0 1
PSMD12 1 0 0 0 1
PSTPIP1 0 0 1 0 1
PTEN 1 0 0 0 1
PTPN1 1 0 0 0 1
PTPN11 1 0 0 0 1
PYROXD1 1 0 0 0 1
QRICH1 1 0 0 0 1
RAB11A 0 0 1 0 1
RAB3A 1 0 0 0 1
RAB5B 0 0 1 0 1
RAC3 0 1 0 0 1
RAD51 0 1 0 0 1
RAI1 1 0 0 0 1
RALA 0 1 0 0 1
RAP1B 0 1 0 0 1
RAPGEFL1 0 0 1 0 1
RBBP5 1 0 0 0 1
RERE 0 1 0 0 1
RFC1 1 0 0 0 1
RHOA 1 0 0 0 1
RINT1 0 0 1 0 1
RMRP 0 0 1 0 1
RNASEH2A 0 0 1 0 1
RNF13 0 1 0 0 1
RNF2 0 0 1 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 1
RNU4-2 0 0 1 0 1
ROR2 0 0 1 0 1
RORA 0 1 0 0 1
RPA1 0 0 1 0 1
RPS19 0 0 1 0 1
RRAGD 1 0 0 0 1
RSF1 0 0 1 0 1
RTN2 0 1 0 0 1
RYR2 1 0 0 0 1
SAMD9 0 1 0 0 1
SAMD9L 0 1 0 0 1
SATB1 0 1 0 0 1
SCARB2 1 0 0 0 1
SCN1A, SCN9A 0 1 0 0 1
SCN2A 1 0 0 0 1
SCN8A 0 1 0 0 1
SCNN1G 0 0 1 0 1
SDHD 1 0 0 0 1
SEC23A 1 0 0 0 1
SEPHS1 0 0 1 0 1
SERPINA1 1 0 0 0 1
SETD5 1 0 0 0 1
SGSH 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 1
SH3TC2 0 1 0 0 1
SLC12A2 1 0 0 0 1
SLC25A42 0 1 0 0 1
SLC26A2 0 1 0 0 1
SLC2A1 0 0 1 0 1
SLC35A2 0 1 0 0 1
SLC4A1 1 0 0 0 1
SLC6A1 0 1 0 0 1
SLC7A2 0 0 1 0 1
SMARCC2 0 0 1 0 1
SMN1 0 0 1 0 1
SMO 1 0 0 0 1
SNUPN 0 1 0 0 1
SON 1 0 0 0 1
SORD 1 0 0 0 1
SOX11 0 1 0 0 1
SOX4 0 1 0 0 1
SOX5 0 1 0 0 1
SPEN 0 0 1 0 1
SPINK1 1 0 0 0 1
SPTAN1 1 0 0 0 1
SPTBN2 0 1 0 0 1
SPTSSA 1 0 0 0 1
SRCAP 1 0 0 0 1
SREBF2 0 0 1 0 1
SRRT 0 0 1 0 1
SRSF1 1 0 0 0 1
STAG2 0 0 1 0 1
STAT4 0 0 1 0 1
STIM1 0 1 0 0 1
STT3A 0 0 1 0 1
STX16, STX16-NPEPL1 1 0 0 0 1
STXBP1 1 0 0 0 1
SUPT5H 0 0 1 0 1
TBX2 1 0 0 0 1
TCF4 1 0 0 0 1
TCIRG1 0 0 1 0 1
TEK 0 1 0 0 1
TELO2 1 0 0 0 1
TGFB1 0 1 0 0 1
TMEM63B 0 0 1 0 1
TNXB 1 0 0 0 1
TOMM70 0 0 1 0 1
TPM3 0 1 0 0 1
TRA2B 1 0 0 0 1
TRAF3 1 0 0 0 1
TRAF7 1 0 0 0 1
TRAPPC4 1 0 0 0 1
TRIM8 0 1 0 0 1
TRIP12 1 0 0 0 1
TSPEAR 0 1 0 0 1
TUBB2A 0 1 0 0 1
TUBB4B 0 1 0 0 1
U2AF2 0 1 0 0 1
UBA2 0 1 0 0 1
UBAP1 1 0 0 0 1
UBR5 0 0 1 0 1
UCHL1 1 0 0 0 1
UGP2 0 1 0 0 1
UNC80 0 1 0 0 1
UQCRFS1 0 1 0 0 1
USP7 0 1 0 0 1
VAMP2 0 0 1 0 1
VCP 0 0 1 0 1
VPS51 0 0 1 0 1
WAC 1 0 0 0 1
WDR37 1 0 0 0 1
WDR73 0 1 0 0 1
WNT10A 0 1 0 0 1
XPNPEP3 0 0 1 0 1
YPEL3 1 0 0 0 1
YWHAZ 0 1 0 0 1
ZBTB47 0 0 1 0 1
ZEB2 0 1 0 0 1
ZMPSTE24 1 0 0 0 1
ZNF865 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 705
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 5 2 0 0 7
Kleine-Levin syndrome 0 0 7 0 7
Roifman syndrome 4 3 0 0 7
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 1 2 3 0 6
RNU2-2 related neurodevelopmental disorder 0 6 0 0 6
Rett syndrome 6 0 0 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2J 3 1 0 1 5
Cystic fibrosis 5 0 0 0 5
Developmental and epileptic encephalopathy, 2 4 1 0 0 5
IRF2BPL-related disorder 0 5 0 0 5
Developmental and epileptic encephalopathy, 28 3 1 0 0 4
Dystonia 28, childhood-onset 3 1 0 0 4
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2 1 1 0 4
Idiopathic basal ganglia calcification 1 4 0 0 0 4
Infantile neuroaxonal dystrophy 1 2 1 0 4
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 1 2 1 0 4
Leukoencephalopathy with calcifications and cysts 0 2 2 0 4
Mitochondrial complex I deficiency, nuclear type 21 2 1 3 0 4
Morimoto-Ryu-Malicdan neuromuscular syndrome 2 2 0 0 4
Mucopolysaccharidosis, MPS-III-C 2 0 2 0 4
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 4 0 0 0 4
Primary ciliary dyskinesia 7 2 1 1 0 4
RNU6ATAC spectrum disorder 0 0 4 0 4
RYR1-related disorder 0 1 3 0 4
TONSL-related disorder 0 0 4 0 4
ALG1-congenital disorder of glycosylation 0 3 0 0 3
ANE syndrome 0 1 2 0 3
Adult hypophosphatasia 2 0 1 0 3
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 1 1 0 3
Autism spectrum disorder due to AUTS2 deficiency 2 1 0 0 3
Becker muscular dystrophy 2 1 0 0 3
CACNA1A-related disorder 0 3 0 0 3
Combined oxidative phosphorylation defect type 20 0 0 3 0 3
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 0 3 0 0 3
Familial cold autoinflammatory syndrome 2 0 0 3 0 3
Marfan syndrome 2 1 0 0 3
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 2 1 0 0 3
Shwachman-Diamond syndrome 2 0 1 2 0 3
3-methylglutaconic aciduria type 8 1 1 0 0 2
ABCA2-related disorder 0 0 2 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 2 0 0 0 2
AGTPBP1-related disorder 2 0 0 0 2
ATG4D-related neurodevelopmental condition 2 0 0 0 2
ATP5F1A-related disorder 0 0 2 0 2
Adult polyglucosan body disease 2 0 0 0 2
Aicardi-Goutieres syndrome 9 1 0 1 0 2
Amelocerebrohypohidrotic syndrome 2 0 0 0 2
Arthrogryposis, Perthes disease, and upward gaze palsy 0 0 2 0 2
Arthrogryposis, distal, with impaired proprioception and touch 1 1 0 0 2
Ataxia-telangiectasia-like disorder 1 1 1 0 0 2
Au-Kline syndrome 0 2 0 0 2
Autosomal recessive DOPA responsive dystonia 0 0 2 0 2
Autosomal recessive RNU4-2-related neurodevelopmental disorder 0 1 1 0 2
Autosomal recessive ataxia, Beauce type 1 0 1 0 2
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 1 1 0 0 2
Autosomal recessive complex spastic paraplegia type 9B 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2I 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2Y 0 1 1 0 2
Autosomal recessive spastic paraplegia type 76 0 1 1 0 2
Autosomal recessive spastic paraplegia type 78 2 0 0 0 2
Autosomal systemic lupus erythematosus type 16 1 0 1 0 2
Basal ganglia calcification, idiopathic, 5 1 1 0 0 2
Bethlem myopathy 1A 1 1 0 0 2
Bifunctional peroxisomal enzyme deficiency 0 2 0 0 2
Bohring-Opitz syndrome 2 0 0 0 2
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 2 0 2
Brown-Vialetto-van Laere syndrome 1 0 0 2 0 2
CACNA1C-related disorder 0 1 1 0 2
CHARGE syndrome 2 0 0 0 2
CHIME syndrome 1 1 0 0 2
CHRNA3-related disorder 0 0 2 0 2
COPB2-related disorder 0 0 2 0 2
CRELD1-related disorder 0 0 2 0 2
CYP2U1-related disorder 1 1 0 0 2
Carey-Fineman-Ziter syndrome 1 1 1 0 0 2
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 0 2 0 2
Charcot-Marie-Tooth disease axonal type 2S 1 0 1 0 2
Coffin-Lowry syndrome 1 1 0 0 2
Coffin-Siris syndrome 1 1 1 0 0 2
Combined deficiency of sialidase AND beta galactosidase 1 0 1 0 2
Combined oxidative phosphorylation defect type 21 0 2 0 0 2
Congenital disorder of deglycosylation 1 0 1 1 0 2
Congenital disorder of glycosylation with defective fucosylation 2 0 0 2 0 2
Congenital disorder of glycosylation, type Iw, autosomal dominant 1 0 1 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 2 0 0 2
Congenital malabsorptive diarrhea 4 1 0 1 0 2
Congenital myasthenic syndrome 11 2 0 0 0 2
Congenital myasthenic syndrome 5 1 1 0 0 2
Congenital myasthenic syndrome 8 2 0 0 0 2
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 2 0 0 0 2
Congenital titinopathy 0 2 0 0 2
DONSON-related Meier-Gorlin syndrome 2 0 0 0 2
Developmental and epileptic encephalopathy 110 0 2 0 0 2
Developmental and epileptic encephalopathy, 4 2 0 0 0 2
Developmental and epileptic encephalopathy, 44 2 0 0 0 2
Developmental and epileptic encephalopathy, 44; Spinocerebellar ataxia, autosomal recessive 24 1 1 0 0 2
Developmental and epileptic encephalopathy, 64 0 2 0 0 2
Developmental and epileptic encephalopathy, 69 1 0 1 0 2
Dworschak-Punetha neurodevelopmental syndrome 0 1 1 0 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 1 0 1 0 2
EIF2AK2-related disorder 0 0 2 0 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 2 0 0 2
Ehlers-Danlos syndrome, classic type, 2 0 2 0 0 2
FAM177A1-related disorder 0 2 0 0 2
FOXG1 disorder 2 0 0 0 2
Fanconi anemia complementation group D2 1 0 1 0 2
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 1 1 0 2
GLYR1-related disorder 0 0 2 0 2
GP130-deficient hyper-IgE syndrome 0 0 2 0 2
Glycogen storage disease XV 2 0 0 0 2
Gorlin syndrome 1 0 1 0 2
HARS1-related ataxia condition 0 0 2 0 2
HARS1-related multi-system ataxia syndrome 1 1 0 0 2
Hatipoglu immunodeficiency syndrome 0 0 2 0 2
Hearing impairment; Diarrhea; Increased susceptibility to fractures; UNC45A-associated Cholestasis 0 0 2 0 2
Hereditary spastic paraplegia 11 2 0 0 0 2
Hereditary spastic paraplegia 48 0 0 2 0 2
Hereditary spastic paraplegia 7 2 0 0 0 2
Hypomyelinating leukodystrophy 6 1 1 0 0 2
Hypotonia, ataxia, and delayed development syndrome 1 0 1 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 1 1 0 0 2
IFIH1-related immunodeficiency 0 0 2 0 2
Immunodeficiency 67 2 0 0 0 2
Infantile liver failure syndrome 2 0 1 1 0 2
Infantile liver failure syndrome 3 0 0 2 0 2
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 0 2 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 1 0 0 2
Intellectual developmental disorder, X-linked, syndromic 37 1 1 0 0 2
Intellectual developmental disorder, autosomal recessive 67 1 1 0 0 2
Intellectual disability, X-linked 102 0 2 0 0 2
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 1 0 2
Intellectual disability, autosomal dominant 13 0 1 1 0 2
Intellectual disability, autosomal dominant 5 2 0 0 0 2
Intellectual disability, autosomal dominant 54 1 0 1 0 2
Intellectual disability, autosomal dominant 56 1 1 0 0 2
Intellectual disability, autosomal dominant 58 1 1 0 0 2
Intellectual disability, autosomal recessive 57 1 1 0 0 2
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 1 1 0 0 2
Joubert syndrome 30 0 0 2 0 2
KMO-related congenital malformation syndrome 0 0 2 0 2
Kleefstra syndrome 1 1 1 0 0 2
Kufor-Rakeb syndrome 2 0 0 0 2
Leukodystrophy, hypomyelinating, 18 2 0 0 0 2
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia 2 0 0 0 2
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 0 1 0 2
MADD-related disorder 1 0 1 0 2
MELAS syndrome 1 1 0 0 2
MPV17-related mitochondrial DNA maintenance defect 1 1 0 0 2
MRTFB-related disorder 2 0 0 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 1 0 0 2
Medium-chain acyl-coenzyme A dehydrogenase deficiency 2 0 0 0 2
Megaconial type congenital muscular dystrophy 1 0 1 0 2
Meier-Gorlin syndrome 7 0 2 0 0 2
Merosin deficient congenital muscular dystrophy 0 0 2 0 2
Metaphyseal chondrodysplasia, McKusick type 1 0 1 0 2
Microcephalic primordial dwarfism, Alazami type 0 2 0 0 2
Microcephaly 17, primary, autosomal recessive 0 0 2 0 2
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 2 0 0 2
Mitochondrial DNA depletion syndrome 20 (mngie type) 2 0 0 0 2
Mitochondrial DNA depletion syndrome; Primary progressive multiple sclerosis 0 0 2 0 2
Mitochondrial complex I deficiency, nuclear type 34 2 0 0 0 2
Mitochondrial complex II deficiency, nuclear type 1 1 0 1 0 2
Mitochondrial complex IV deficiency, nuclear type 11 2 0 0 0 2
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 2 0 0 2
Mitochondrial trifunctional protein deficiency 2 1 0 1 0 2
Mucopolysaccharidosis, MPS-III-A 2 0 0 0 2
Mucopolysaccharidosis, MPS-III-B 2 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1 2 0 0 0 2
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 0 0 2 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 0 2 0 2
Myeloperoxidase deficiency 2 0 0 0 2
Myopathy 2 0 0 0 2
NAV2-related neurodevelopmental condition 0 0 2 0 2
Nephronophthisis-like nephropathy 1 1 0 1 0 2
Nephropathic cystinosis 2 0 0 0 2
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0 1 1 0 2
Neurodevelopmental disorder with hearing loss and spasticity 0 1 1 0 2
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 1 0 0 2
Neurodevelopmental disorder with microcephaly and movement abnormalities 0 1 1 0 2
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 1 1 0 2
Neurodevelopmental disorder with microcephaly, ataxia, and seizures 0 0 2 0 2
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 0 2 0 0 2
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures 1 0 2 0 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 1 0 2
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 0 2 0 0 2
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 0 0 2 0 2
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 2 0 0 0 2
Noonan syndrome 2 1 0 1 0 2
ORC3-related disorder 0 2 0 0 2
Oculocutaneous albinism type 1A 0 0 2 0 2
Oculocutaneous albinism type 8 2 0 0 0 2
Odontochondrodysplasia 1 2 0 0 0 2
Osteodysplastic primordial dwarfism, type 1; Lowry-Wood syndrome 0 1 1 0 2
PAPSS1-related disorder 0 0 2 0 2
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2 0 0 0 2
PIGQ-related disorder 0 1 1 0 2
PIP5K1C-related neurodevelopmental disorder 1 0 1 0 2
PPRC1-related conditon 0 0 2 0 2
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 2 0 0 2
Parkinsonism-dystonia 3, childhood-onset 0 2 0 0 2
Peroxisome biogenesis disorder 14B 2 0 0 0 2
Peroxisome biogenesis disorder 4B 0 2 0 0 2
Perrault syndrome 3 1 1 0 0 2
Phenylketonuria 0 0 2 0 2
Pontocerebellar hypoplasia type 2D 1 1 0 0 2
Pontocerebellar hypoplasia type 6 2 0 0 0 2
Predisposition to dissection 0 0 2 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 0 1 1 0 2
Progressive myoclonic epilepsy type 3 0 2 0 0 2
Progressive sclerosing poliodystrophy 2 0 0 0 2
RAB5C-related disorder 0 0 2 0 2
RNH1-related disorder 0 0 2 0 2
RNU2-2 related neurodevelopmental disorder, autosomal recessive 0 0 2 0 2
RYBP-related condition 0 0 2 0 2
Recessive dystrophic epidermolysis bullosa 2 0 0 0 2
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 2 0 0 0 2
Retinal dystrophy and obesity 1 1 0 0 2
SARS2-associated condition 0 2 0 0 2
SLC25A46-associated optic atrophy spectrum disorder 0 2 0 0 2
SNAPC4 related condition 2 0 0 0 2
Schaaf-Yang syndrome 1 1 0 0 2
Senior-Loken syndrome 5 2 0 0 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 1 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2 0 0 0 2
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 1 0 1 0 2
Sialic acid storage disease, severe infantile type 1 1 0 0 2
Siddiqi syndrome 0 1 1 0 2
Spastic ataxia 5 0 1 1 0 2
Spastic paraplegia 84, autosomal recessive 0 2 0 0 2
Spinocerebellar ataxia, autosomal recessive 32 2 0 0 0 2
Spinocerebellar ataxia, autosomal recessive 33 1 1 0 0 2
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 2 0 0 0 2
Spongiform encephalopathy with neuropsychiatric features 0 0 2 0 2
Stickler syndrome type 1 1 1 0 0 2
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 2 0 0 2
TMEM161B-related lissencephaly 0 0 2 0 2
TMEM208-related condition 0 0 2 0 2
TMEM94-related disorder 2 0 0 0 2
TSPEAR-related disorder of tooth and hair follicle morphogenesis 0 2 0 0 2
Tessadori-Van Haaften neurodevelopmental syndrome 3 2 0 0 0 2
UTP20-related condition 0 0 2 0 2
Van Maldergem syndrome 2 0 0 2 0 2
WARS2-related disorder 1 1 0 0 2
Wieacker-Wolff syndrome 1 1 0 0 2
Wolfram syndrome 1 1 1 0 0 2
Xeroderma pigmentosum, group F 1 1 0 0 2
Yao syndrome 0 0 2 0 2
not specified 0 0 2 0 2
1p13.3 deletion syndrome 0 1 0 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 0 0 0 1
46,XX sex reversal 4 0 0 1 0 1
ACCES syndrome 0 1 0 0 1
ACOX1-related disorder 1 0 0 0 1
ACTN2-related disorder 1 0 0 0 1
ADCY2-related disorder 0 0 1 0 1
ADGRV1-related myoclonic epilepsy 0 1 0 0 1
AFG3L2-related disorder 0 1 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 0 1
AIFM1-related hypomyelination with spondylometaphyseal dysplasia 0 0 1 0 1
ARX-associated condition 1 0 0 0 1
ATAD3 gene cluster related condition 0 0 1 0 1
ATAD3A-related condition 1 0 0 0 1
ATP1A1-related disorder 1 0 0 0 1
ATP1A3-related disorder 0 1 0 0 1
ATP5PO-related disorder 1 0 0 0 1
AXIN2-related disorder 0 0 1 0 1
Actin accumulation myopathy 1 0 0 0 1
Action myoclonus-renal failure syndrome 1 0 0 0 1
Adrenoleukodystrophy 0 1 0 0 1
Adult-onset autosomal dominant demyelinating leukodystrophy 1 0 0 0 1
Aicardi-Goutieres syndrome 4 0 0 1 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 0 1
Alexander disease 0 0 1 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 1 0 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 1
Alstrom syndrome 0 1 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 0 1
Alzheimer disease 3 0 1 0 0 1
Aortic aneurysm, familial thoracic 10 0 0 1 0 1
Arts syndrome 0 1 0 0 1
Ataxia-telangiectasia syndrome 0 0 1 0 1
Atopic eczema; Ichthyosis vulgaris 1 0 0 0 1
Atrial septal defect 8 0 1 0 0 1
Atypical Rubinstein-Taybi 0 0 1 0 1
Autism 1 0 0 0 1
Autoimmune lymphoproliferative syndrome type 1 0 1 0 0 1
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 1 0 0 0 1
Autosomal dominant distal renal tubular acidosis 1 0 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 1 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies 1 0 0 0 1
Autosomal dominant osteopetrosis 2 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 1
Autosomal recessive osteopetrosis 1 0 0 1 0 1
BAP1-associated neurodevelopmental disorder 0 0 1 0 1
BENTA disease 1 0 0 0 1
BICRA-related disorder 0 0 1 0 1
BLK-related disorder 0 1 0 0 1
Baraitser-winter syndrome 2 0 1 0 0 1
Beckwith-Wiedemann syndrome 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 0 1 0 1
Bone mineral density quantitative trait locus 18 0 1 0 0 1
Brachydactyly type B1 0 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 1
CALM1-related disorder 0 1 0 0 1
CAMK2D-related condition 0 1 0 0 1
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY 1 0 0 0 1
CBL-related disorder 0 1 0 0 1
CDC42-associated inflammatory disease 1 0 0 0 1
CDH2-related disorder 1 0 0 0 1
CDK19-related disorder 0 0 1 0 1
CDKL2-related condition 0 1 0 0 1
CDKL5-related disorder 0 1 0 0 1
CLDN5 deficiency 1 0 0 0 1
COG4-congenital disorder of glycosylation 1 0 0 0 1
CTNNA1-associated FEVR 0 1 0 0 1
Capillary malformation; Sturge-Weber syndrome 1 0 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 1 0 0 0 1
Cardiofaciocutaneous spectrum disorder 0 1 0 0 1
Cardiofaciocutaneous syndrome 1 0 1 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 1
Cardiofaciocutaneous syndrome 4 0 1 0 0 1
Cardiospondylocarpofacial syndrome 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 1 0 0 0 1
Cationic Amino Acid Transporter 2 Deficiency 0 0 1 0 1
Central core myopathy 0 1 0 0 1
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 1 0 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 0 1
Cerebellar ataxia; Intellectual disability; Cerebellar atrophy 0 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2T 0 1 0 0 1
Charcot-Marie-Tooth disease type 4C 0 1 0 0 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2FF 0 0 1 0 1
Charcot-Marie-Tooth disease, type IA 1 0 0 0 1
Chromosome 15q11.2 deletion syndrome 1 0 0 0 1
Chromosome Xq28 duplication syndrome 1 0 0 0 1
Coffin-Siris syndrome 10 0 1 0 0 1
Cohen-Gibson syndrome 0 1 0 0 1
Combined oxidative phosphorylation deficiency 32 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 3 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 0 1
Congenital heart defects, multiple types, 4 0 0 1 0 1
Congenital muscular dystrophy due to LMNA mutation 0 1 0 0 1
Congenital myopathy 4A, autosomal dominant 0 1 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 1
Cowden syndrome 1 1 0 0 0 1
Craniolenticulosutural dysplasia 1 0 0 0 1
Curry-Jones syndrome 1 0 0 0 1
DAGLA-related disorder 0 0 1 0 1
DENND5B related condition 0 1 0 0 1
DHX9-related disorder 0 0 1 0 1
DNM1L-related movement disorder 0 1 0 0 1
DOHH-related disorder 0 1 0 0 1
DOT1L-related condition 1 0 0 0 1
DROSHA-related neurodevelopmental disorder 0 0 1 0 1
DSP-related arrhythmogenic cardiomyopathy 1 0 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 1
Deafness-infertility syndrome 1 0 0 0 1
Decreased activity of mitochondrial ATP synthase complex 1 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 1 0 0 0 1
Dermatitis, atopic, 2 1 0 0 0 1
Desmin-related myofibrillar myopathy 1 0 0 0 1
Developmental and epileptic encephalopathy 104 1 0 0 0 1
Developmental and epileptic encephalopathy 116 0 1 0 0 1
Developmental and epileptic encephalopathy 119 1 0 0 0 1
Developmental and epileptic encephalopathy 91 1 0 0 0 1
Developmental and epileptic encephalopathy 92 0 1 0 0 1
Developmental and epileptic encephalopathy 93 0 1 0 0 1
Developmental and epileptic encephalopathy 96 0 0 1 0 1
Developmental and epileptic encephalopathy, 13 0 1 0 0 1
Developmental and epileptic encephalopathy, 27 0 1 0 0 1
Developmental and epileptic encephalopathy, 31A 0 0 1 0 1
Developmental and epileptic encephalopathy, 32 1 0 0 0 1
Developmental and epileptic encephalopathy, 33 1 0 0 0 1
Developmental and epileptic encephalopathy, 35 1 0 0 0 1
Developmental and epileptic encephalopathy, 36 1 0 0 0 1
Developmental and epileptic encephalopathy, 38 0 0 1 0 1
Developmental and epileptic encephalopathy, 42 1 0 0 0 1
Developmental and epileptic encephalopathy, 47 0 1 0 0 1
Developmental and epileptic encephalopathy, 58 0 1 0 0 1
Developmental and epileptic encephalopathy, 72 0 0 1 0 1
Developmental and epileptic encephalopathy, 73 0 1 0 0 1
Developmental and epileptic encephalopathy, 74 1 0 0 0 1
Developmental and epileptic encephalopathy, 8 1 0 0 0 1
Developmental and epileptic encephalopathy, 83 0 1 0 0 1
Developmental delay with dysmorphic facies and dental anomalies 0 1 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 0 0 1 0 1
Developmental delay, dysmorphic facies, and brain anomalies 0 1 0 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 1 0 0 1
Diamond-Blackfan anemia 1 0 0 1 0 1
Diamond-Blackfan anemia 5 1 0 0 0 1
Diaphyseal dysplasia 0 1 0 0 1
Diarrhea 11, malabsorptive, congenital 0 1 0 0 1
Disabling pansclerotic morphea of childhood 0 0 1 0 1
Distal myopathy 0 1 0 0 1
Duchenne muscular dystrophy 1 0 0 0 1
Dystonia 5 0 0 1 0 1
EFEMP1-related connective tissue condition 0 1 0 0 1
EHMT2-related Kleefstra-like syndrome 1 0 0 0 1
EIF2AK1-related disorder 0 0 1 0 1
ELFN1-related disorder 0 0 1 0 1
EVI5-related disorder 0 0 1 0 1
EZH1-related disorder 0 0 1 0 1
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 1 0 0 0 1
Ehlers-Danlos syndrome, periodontal type 1 1 0 0 0 1
Encephalopathy due to GLUT1 deficiency 0 0 1 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 1
FBN2-related disorder 0 0 1 0 1
FLNA-related disorder 0 0 1 0 1
Familial cancer of breast 0 1 0 0 1
Familial cold autoinflammatory syndrome 1 0 0 1 0 1
Fanconi anemia complementation group R 0 1 0 0 1
Floating-Harbor syndrome 1 0 0 0 1
Follicular atrophoderma and basal cell epitheliomata 1 0 0 0 1
GABRA3-related disorder 0 0 1 0 1
GABRA4-related developmental and epileptic encephalopathy 0 0 1 0 1
GDF11-associated multiple congenital anomalies and ID 0 0 1 0 1
GET4-related disorder 0 0 1 0 1
GNB2-related disorder 1 0 0 0 1
GTF2I related condition 0 0 1 0 1
Galloway-Mowat syndrome 1 0 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 1 0 0 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome 1 0 0 0 1
Gillespie syndrome 0 1 0 0 1
Glaucoma 3, primary congenital, E 0 1 0 0 1
Global developmental delay, progressive ataxia, and elevated glutamine 1 0 0 0 1
Glutamine related condition 0 0 1 0 1
H3F3A-related disorder 0 1 0 0 1
HNRNPA1-related multisystem proteinopathy 0 0 1 0 1
Hemifacial myohyperplasia 1 0 0 0 1
Hemolytic anemia due to hexokinase deficiency 0 1 0 0 1
Hereditary diffuse gastric adenocarcinoma 0 1 0 0 1
Hereditary liability to pressure palsies 0 0 1 0 1
Hereditary pancreatitis 1 0 0 0 1
Hereditary spastic paraplegia 12 0 1 0 0 1
Hereditary spastic paraplegia 35 0 1 0 0 1
Hereditary spastic paraplegia 50 0 0 1 0 1
Hereditary spastic paraplegia 9A 1 0 0 0 1
Hiatt-Neu-Cooper neurodevelopmental syndrome 0 1 0 0 1
Houge-Janssens syndrome 2 0 1 0 0 1
Houge-Janssens syndrome 4 0 1 0 0 1
Hyaline fibromatosis syndrome 1 0 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 0 1 0 1
Hyperimmunoglobulin D with periodic fever 1 0 0 0 1
Hypokalemic periodic paralysis, type 2 0 1 0 0 1
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy 1 0 0 0 1
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 1 0 0 0 1
Hypophosphatemic nephrolithiasis/osteoporosis 2 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 0 0 1
IMPDH2-related neurodevelopmental condition 0 1 0 0 1
IQGAP1-associated immune condition 0 0 1 0 1
Ichthyosis vulgaris 1 0 0 0 1
Immunodeficiency 33 1 0 0 0 1
Immunodeficiency 84 1 0 0 0 1
Immunodeficiency, common variable, 10 0 0 1 0 1
Inclusion body myopathy and brain white matter abnormalities 1 0 0 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0 0 1 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 1 0 0 1
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 1 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 or without epilepsy or cerebellar ataxia 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 1 0 0 0 1
Intellectual disability, autosomal dominant 1 0 0 1 0 1
Intellectual disability, autosomal dominant 6 0 1 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 1 0 1
Isolated focal cortical dysplasia type II 1 0 0 0 1
KARS1-related disorder 1 0 0 0 1
KAT6B-related disorder 0 1 0 0 1
KCNC2-related disorder 0 0 1 0 1
KDM2A related condition 0 0 1 0 1
KDR-related disorder 0 0 1 0 1
KIF21A-related disorder 0 0 1 0 1
KIF5B-related osteogenesis imperfecta syndrome 0 0 1 0 1
KLF7-related disorder 0 1 0 0 1
KMT2C-related disorder 1 0 0 0 1
KPNA4-related condition 0 0 1 0 1
KRAS-related RASopathy 0 1 0 0 1
Kabuki syndrome 1 0 0 1 0 1
Kilquist syndrome 1 0 0 0 1
Kleefstra syndrome 2 0 1 1 0 1
Koolen-de Vries syndrome 1 0 0 0 1
Kugelberg-Welander disease 0 0 1 0 1
Kury-Isidor syndrome 0 1 0 0 1
LAMP3-related disorder 0 0 1 0 1
LMNA-associated condition 0 1 0 0 1
LONP1-related disorder 0 0 1 0 1
Lamb-Shaffer syndrome 0 1 0 0 1
Lambdoidal craniosynostosis 1 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 1
Leber congenital amaurosis with early-onset deafness 0 1 0 0 1
Lesch-Nyhan syndrome 1 0 0 0 1
Lethal congenital contracture syndrome 7 0 1 0 0 1
Lethal tight skin contracture syndrome 1 0 0 0 1
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 1 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 0 1 0 1
MAP2K1-related rasopathy-like syndrome 1 0 0 0 1
MAP3K20-related disorder 0 1 0 0 1
MAPK8IP3-related disorder 0 1 0 0 1
MAST3-related disorder 0 0 1 0 1
MBTPS2-related disorder 0 1 0 0 1
MED12-Related Disorders 1 0 0 0 1
MEHMO syndrome 0 1 0 0 1
MERRF syndrome 1 0 0 0 1
MIR145-related multisystemic smooth muscle dysfunction 0 0 1 0 1
MIRAGE syndrome 0 1 0 0 1
MORC2-related developmental disorder 0 1 0 0 1
MPEG1-related immunodeficiency 0 0 1 0 1
MT-TH-related condition 0 1 0 0 1
MT-TK-related disorder 1 0 0 0 1
MT-TQ-related myopathy 1 0 0 0 1
MTOR-related megalencephaly and pigmentary mosaicism in skin 1 0 0 0 1
MTSS2-related neurodevelopmental disorder 0 1 0 0 1
MYBPC1-related disorder 0 1 0 0 1
MYCBP2-related disorder 0 0 1 0 1
MYCBP2-related neurodevelopmental condition 0 1 0 0 1
Malan overgrowth syndrome 0 0 1 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability 0 0 1 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 0 0 0 1
Menkes kinky-hair syndrome 1 0 0 0 1
Methylmalonic acidemia with homocystinuria, type cblX 1 0 0 0 1
Migraine, familial hemiplegic, 2 0 0 1 0 1
Mitchell syndrome 1 0 0 0 1
Mitochondrial complex III deficiency, nuclear type 10 0 1 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A 1 0 0 0 1
Mitochondrial disease 1 0 0 0 1
Monocytopenia with susceptibility to infections 1 0 0 0 1
Mosaic KRAS-related syndrome 0 1 0 0 1
Mowat-Wilson syndrome 0 1 0 0 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 1 0 0 0 1
Multiple epiphyseal dysplasia type 4 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy type B6 0 0 1 0 1
Myoclonic dystonia 11 0 1 0 0 1
Myofibrillar myopathy 8 1 0 0 0 1
Myopathy, distal, 5 1 0 0 0 1
Myopathy, proximal, and ophthalmoplegia 0 1 0 0 1
NARP syndrome 1 0 0 0 1
NBEA-related developmental delay and generalized epilepsy 0 1 0 0 1
NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS) 0 1 0 0 1
NOTCH1-related disorder 1 0 0 0 1
NSD2-related disorder 0 1 0 0 1
NUDT2-associated condition 0 1 0 0 1
NUS1-related epilepsy-myoclonus-ataxia syndrome 0 1 0 0 1
Nephronophthisis 1; Senior-loken syndrome 3 1 0 0 0 1
Nephropathy, chronic tubulointerstitial 0 1 0 0 1
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 1 0 1
Neurodevelopmental disorder with alopecia and brain abnormalities 0 1 0 0 1
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 0 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 1 0 0 0 1
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 1 0 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 0 0 1
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 0 1 0 0 1
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 0 1
Neurodevelopmental disorder with involuntary movements 0 1 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 0 1
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 0 1 0 0 1
Neurofibromatosis, type 1 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 0 0 1
Neurooculocardiogenitourinary syndrome 1 0 0 0 1
Neuropathy, congenital hypomyelinating, 2 0 0 1 0 1
Niemann-Pick disease, type C1 1 0 0 0 1
Nizon-Isidor syndrome 0 0 1 0 1
Noonan syndrome 1 1 0 0 0 1
Noonan syndrome 12 1 0 0 0 1
Oculogastrointestinal-neurodevelopmental syndrome 0 1 0 0 1
Osteogenesis imperfecta type I 0 0 1 0 1
Osteopathia striata with cranial sclerosis 1 0 0 0 1
PHACTR1-related neurodevelopmental condition 0 1 0 0 1
PLCG1-related disorder 0 0 1 0 1
PMM2-congenital disorder of glycosylation 0 0 1 0 1
POLG-related disorder 1 0 0 0 1
POLR3H-related condition 0 0 1 0 1
PPFIA3-related disorder 0 0 1 0 1
PPP5C-related disorder 0 0 1 0 1
PRDM16-related congenital heart disease 0 0 1 0 1
PRELP-related osteosclerosis 0 0 1 0 1
PRKAR1B-related neurodevelopmental disorder 1 0 0 0 1
PRNP-associated condition 1 0 0 0 1
PSMB8-related dominant condition 0 0 1 0 1
PSMC5-related neurodevelopmental condition 0 1 0 0 1
Peroxisomal disorder 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 1 1 0 0 0 1
Pierpont syndrome 1 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 1
Polycystic kidney disease, adult type 0 0 1 0 1
Polyglandular autoimmune syndrome, type 1 0 0 1 0 1
Pontocerebellar hypoplasia, type 13 0 0 1 0 1
Primary erythromelalgia 0 1 0 0 1
Progressive encephalopathy with leukodystrophy due to DECR deficiency 0 0 1 0 1
Progressive myoclonic epilepsy type 7 1 0 0 0 1
Progressive myositis ossificans 1 0 0 0 1
Proteasome-associated autoinflammatory syndrome 2 1 0 0 0 1
Pseudohypoparathyroidism 0 1 0 0 1
Pseudohypoparathyroidism type 1B 1 0 0 0 1
Pseudopseudohypoparathyroidism 0 0 1 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 1 0 0 1
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 0 1 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 0 1
Pyruvate dehydrogenase E2 deficiency 0 0 1 0 1
RAB11A-associated neurodevelopmental condition 0 0 1 0 1
RAB3A-related condition 1 0 0 0 1
RAB5B-associated surfactant dysfunction disorder 0 0 1 0 1
RBBP5-related syndromic neurodevelopmental condition 1 0 0 0 1
RNF2-associated neurodevelopmental condition 0 0 1 0 1
RPA1-related short telomere syndrome 0 0 1 0 1
RRAGD-related disorder 1 0 0 0 1
RSF1-related condition 0 0 1 0 1
Radio-Tartaglia syndrome 0 0 1 0 1
Rauch-Steindl syndrome 1 0 0 0 1
Renpenning syndrome 0 0 1 0 1
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 0 0 1
SAMD9L-associated autoinflammatory syndrome 0 1 0 0 1
SCN2A-related disorder 1 0 0 0 1
SCNN1G-related disorder 0 0 1 0 1
SEPHS1-related disorder 0 0 1 0 1
SLC25A42-related mitochondrial encephalomyopathy 0 1 0 0 1
SLC35A2-congenital disorder of glycosylation 0 1 0 0 1
SLC6A1-related neurodevelopmental condition 0 1 0 0 1
SMARCC2-related disorder 0 0 1 0 1
SNUPN deficiency muscular dystrophy 0 1 0 0 1
SPOP-related disorder 0 0 1 0 1
SPOP-related neurodevelopmental condition 1 0 0 0 1
SPTBN1-related disorder 1 0 0 0 1
SPTBN1-related neurodevelopmental disease 0 0 1 0 1
SREBF2-related disorder 0 0 1 0 1
SRRT-related condition 0 0 1 0 1
SSR4-congenital disorder of glycosylation 1 0 0 0 1
STAG2-related disorder 0 0 1 0 1
STAT3-related early-onset multisystem autoimmune disease 0 0 1 0 1
SUPT5H-related condition 0 0 1 0 1
Scoliosis 0 0 1 0 1
Severe combined immunodeficiency due to CARMIL2 deficiency 1 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 1 0 0 1
Shashi-Pena syndrome 1 0 0 0 1
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 0 1 0 1
Skraban-Deardorff syndrome 1 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 1
Snijders Blok-Campeau syndrome 0 0 1 0 1
Spastic paraplegia 79A, autosomal dominant, with ataxia 1 0 0 0 1
Spastic paraplegia 80, autosomal dominant 1 0 0 0 1
Spastic paraplegia 90A, autosomal dominant 1 0 0 0 1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 1 0 0 0 1
Spinocerebellar ataxia type 25 0 1 0 0 1
Spinocerebellar ataxia type 28 1 0 0 0 1
Spinocerebellar ataxia type 5 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 27 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, Bieganski type 0 1 0 0 1
Stankiewicz-Isidor syndrome 1 0 0 0 1
Stormorken syndrome 0 1 0 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 1
Systemic lupus erythematosus; Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 1
T-LGL Leukemia 1 0 0 0 1
TBX2-related disorder 1 0 0 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 1 0 0 0 1
TMEM63B-related condition 0 0 1 0 1
TNPO2-related disorder 0 0 1 0 1
TNXB-related hypermobile Ehlers-Danlos syndrome 1 0 0 0 1
TOMM70-related neurodevelopmental disorder 0 0 1 0 1
TRA2B-related condition 1 0 0 0 1
TRAF3-related disorder 1 0 0 0 1
TRIM8-related epileptic encephalopathy 0 1 0 0 1
TRIP12 associated autism with facial dysmorphology 1 0 0 0 1
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies 0 1 0 0 1
Thrombophilia due to activated protein C resistance 1 0 0 0 1
Tooth agenesis, selective, 4 0 1 0 0 1
Tooth agenesis, selective, 7 1 0 0 0 1
Type 1 interferonopathy 0 1 0 0 1
UBR5-associated neurodevelopmental condition 0 0 1 0 1
UNC93B1-related disorder 0 1 0 0 1
USP7-related disorder 0 1 0 0 1
USP9X-related intellectual developmental disorder 0 0 1 0 1
VEXAS syndrome 1 0 0 0 1
Vertebral hypersegmentation and orofacial anomalies 0 0 1 0 1
Ververi-Brady syndrome 1 0 0 0 1
Vici syndrome 1 0 0 0 1
WDR44-related ciliopathy 0 1 0 0 1
WHSC1-related disorder 0 0 1 0 1
Wieacker-Wolff syndrome, female-restricted 1 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 1
Wolf-Hirschhorn like syndrome 0 0 1 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 0 0 1 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 1
X-linked scapuloperoneal muscular dystrophy 0 1 0 0 1
X-linked severe combined immunodeficiency 1 0 0 0 1
Xq28 related immunodeficiency 0 0 1 0 1
YPEL3-related condition 1 0 0 0 1
ZBTB47-related disorder 0 0 1 0 1
ZNF292-related neurodevelopmental condition 0 1 0 0 1
ZNF331 deletion 0 0 1 0 1
ZNF865-related disorder 0 0 1 0 1
ZTTK syndrome 1 0 0 0 1

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