ClinVar Miner

Variants from MVZ Medizinische Genetik Mainz

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
435 624 1140 0 0 2199

Gene and significance breakdown #

Total genes and gene combinations: 819
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
PKD1 140 16 131 287
COL4A3, MFF-DT 13 52 21 86
COL4A5 25 32 20 77
COL4A4 13 33 8 54
PKD2 23 2 9 34
HNF1B 5 9 11 25
SLC5A2 5 4 12 21
COL4A1 0 12 8 20
MYH9 1 1 17 19
UMOD 0 13 5 18
CFH 4 6 7 17
PAX2 2 5 10 17
CFI 2 6 8 16
PKHD1 5 3 8 16
TRPC6 0 1 14 15
CUBN 7 3 4 14
FBN1 2 5 5 12
SLC12A3 2 1 9 12
ACTN4 0 4 7 11
CIC 1 3 7 11
TSC2 4 1 6 11
CD46 3 1 6 10
CLCN5 2 4 4 10
DNAJB11 1 4 5 10
LOC129992813, PKD2 10 0 0 10
TRIO 1 5 4 10
TTN 0 8 2 10
GANAB 1 6 2 9
INF2 0 6 3 9
ALG5 0 3 5 8
NF1 6 0 2 8
ADAMTS13 2 2 3 7
KMT2D 2 2 3 7
RYR1 0 0 7 7
RYR2 0 0 7 7
CACNA1E 0 1 5 6
CHD7 0 0 6 6
CYP24A1 3 1 2 6
FLNC 0 0 6 6
RORA 0 3 3 6
SLC34A3 0 2 4 6
TCF20 2 3 1 6
WT1 1 0 5 6
ATP6V1B1 1 1 3 5
CACNA1A 1 3 1 5
CHD8 1 1 3 5
CLCN5, LOC126863258 0 2 3 5
COL2A1 1 3 1 5
GATA3 1 4 0 5
GCK 1 3 1 5
GREB1L 0 2 3 5
IFT140 0 4 1 5
IFT140, LOC105371046 0 5 0 5
KMT2A 0 3 2 5
LMX1B 0 1 4 5
NPHP4 2 2 1 5
SCN2A 0 4 1 5
SCN8A 0 1 4 5
SLC34A1 0 2 3 5
SMAD6 0 3 2 5
SPTAN1 0 3 2 5
ALPL 1 2 1 4
ANKRD11 1 3 0 4
ANKRD17 0 0 4 4
ATP2B1 0 1 3 4
AVPR2 2 1 1 4
BBS10 2 0 2 4
BICC1 0 3 1 4
BRCA1 3 0 1 4
CACNA1C 0 3 1 4
CHD4 0 1 3 4
COL5A1 1 0 3 4
DYNC1H1 0 1 3 4
EYA1 0 0 4 4
HNF1B, LOC126862549 0 3 1 4
HNF4A 0 2 2 4
KAT6B 1 1 2 4
LPL 1 2 1 4
LRP5 0 2 2 4
MACF1 0 0 4 4
MSH2 3 0 1 4
NIPBL 0 0 4 4
OFD1 0 3 1 4
PIEZO2 0 2 2 4
PLP1, RAB9B 0 1 3 4
PRPF31 2 2 0 4
REN 0 0 4 4
SALL1 0 3 1 4
SLC12A2 0 1 3 4
SMC1A 0 0 4 4
SYNE1 0 1 3 4
TLK2 0 2 2 4
TSC1 1 2 1 4
WDFY3 0 1 3 4
AARS1 1 0 2 3
ADCY10 0 2 1 3
AGO2 0 0 3 3
ANLN 0 0 3 3
ATP1A1 0 0 3 3
ATP1A3 0 0 3 3
BRCA2 2 0 1 3
CHD2 0 1 2 3
CHD3 0 0 3 3
CHRNB1 0 1 2 3
CLCN3 0 0 3 3
CLDN16 0 0 3 3
CNOT1 0 1 2 3
COL11A1 0 2 1 3
COL12A1 0 1 2 3
COL1A2 2 1 0 3
CR2 0 1 2 3
CTCF 0 1 2 3
CUL3 0 1 2 3
DDHD2 1 0 2 3
DDX3X 0 1 2 3
DGKE 0 0 3 3
DNMT3A 1 2 0 3
EP300 0 0 3 3
GLI3 1 1 1 3
GRIA3 0 1 2 3
GRIN2B 0 2 1 3
HK1 0 0 3 3
KCNA2 1 0 2 3
KCNH2 1 2 0 3
KCNJ11 0 1 2 3
KMT2C 0 2 1 3
LDLR 0 0 3 3
MED13 0 0 3 3
MED13L 0 2 1 3
MIB1 0 0 3 3
MME 1 2 0 3
MYH6 0 0 3 3
NBEA 0 1 2 3
NEK8 0 0 3 3
NFIX 2 0 1 3
NOTCH2 0 1 2 3
NSD1 1 0 2 3
NSD2 0 1 2 3
NUP93 1 0 2 3
PAX6 2 0 1 3
PBX1 1 2 0 3
PHEX 2 0 1 3
PIK3R1 0 2 1 3
POLR2A 0 1 2 3
PTCH1 0 1 2 3
QRICH1 0 0 3 3
RET 0 1 2 3
ROR2 0 0 3 3
RUSF1, SLC5A2 0 2 1 3
SCN1A 1 0 2 3
SIN3A 1 1 1 3
SLC12A1 0 0 3 3
SLC2A1 0 0 3 3
SLC4A1 0 2 1 3
SLC6A8 1 1 1 3
SMARCA2 0 1 2 3
SMC3 0 2 1 3
SOX2, SOX2-OT 0 2 1 3
TAF1 0 0 3 3
TBC1D8B 0 2 1 3
TRIP12 0 1 2 3
TRRAP 0 0 3 3
USH2A 2 0 1 3
USP7 1 0 2 3
ABCA4 1 0 1 2
ABCC8 0 2 0 2
ACAN 1 1 0 2
ACTC1, GJD2-DT 0 0 2 2
ACTN2 0 0 2 2
ADAR 0 2 0 2
ADGRL1 0 0 2 2
AHDC1 0 2 0 2
ALDH1A2 0 0 2 2
ALG8 0 0 2 2
ALG9 0 1 1 2
ANK3 0 1 1 2
APOB 1 0 1 2
ARID2 0 0 2 2
ARX 1 0 1 2
ASAH1 0 2 0 2
ATP2B3 0 0 2 2
BBS7 2 0 0 2
BCOR 0 1 1 2
BICC1, LOC126860938 0 1 1 2
BMP4 0 1 1 2
CACNA1D 0 0 2 2
CACNA1F 0 1 1 2
CACNA1G 0 0 2 2
CASK 0 0 2 2
CCDST, FLG 0 1 1 2
CDK13 1 1 0 2
CDK8 0 1 1 2
CFB 0 1 1 2
CHEK2 1 0 1 2
CLDN10 1 1 0 2
COL1A1 1 0 1 2
CREBBP 0 1 1 2
DLG4 0 1 1 2
DLL1 0 1 1 2
DSG2 0 2 0 2
DSP 0 1 1 2
DYRK1A 1 0 1 2
EHMT1 0 2 0 2
FGD1 0 1 1 2
FGFR1 0 1 1 2
FLNB 0 1 1 2
FLT4 0 2 0 2
FREM2 0 1 1 2
FZD2 0 0 2 2
GABRB3 1 0 1 2
GALNT3 1 0 1 2
GATA4 0 1 1 2
GATA6 0 1 1 2
GH-LCR, GH1 0 0 2 2
GLA, RPL36A-HNRNPH2 0 1 1 2
GLI2 0 1 1 2
GNAI1 0 1 1 2
GRIN2A 0 1 1 2
GUSB 0 0 2 2
GYS2 0 0 2 2
H4C11 0 0 2 2
HCN2 0 0 2 2
HDAC4 0 0 2 2
HNF1A 0 1 1 2
HNRNPK 0 0 2 2
HUWE1 0 0 2 2
IFT140, LOC126862260 0 2 0 2
IGF1R 0 1 1 2
INSR 0 2 0 2
IRAK1BP1, PHIP 0 1 1 2
ITPR3 0 0 2 2
JAG1 0 1 1 2
KANSL1 1 1 0 2
KARS1 1 1 0 2
KATNB1 0 0 2 2
KCNA1 0 0 2 2
KCNJ1 0 1 1 2
KCNJ16 0 2 0 2
KCNJ2 0 0 2 2
KCNQ3 0 0 2 2
KCNQ5 0 1 1 2
KDM6B, LOC121587574 0 0 2 2
KLHL3 1 0 1 2
KMT2E 1 0 1 2
LAMA2 0 1 1 2
LAMA5 0 1 1 2
LOC102724058, SCN1A 0 1 1 2
LOC107548112, REN 0 0 2 2
LOC107982234, WT1 1 0 1 2
LOXHD1 0 2 0 2
MAFB 0 1 1 2
MAP2K1 0 1 1 2
MAPKBP1 0 0 2 2
MEN1 0 0 2 2
MGAT2 0 1 1 2
MTM1 1 1 0 2
MYBPC3 0 1 1 2
MYH7 0 0 2 2
MYO15A 1 0 1 2
MYO6 0 2 0 2
MYO7A 0 0 2 2
MYPN 0 0 2 2
NAA15 0 1 1 2
NEK9 0 2 0 2
NLRP12 0 0 2 2
NOTCH1 0 1 1 2
NOVA2 1 1 0 2
NPHP1 1 0 1 2
NPHP3, NPHP3-ACAD11 0 0 2 2
NPHS1 1 0 1 2
NPHS2 0 1 1 2
NUS1 0 2 0 2
OCRL 0 1 1 2
OGT 0 0 2 2
OPA1 1 0 1 2
OTOA 0 0 2 2
PAK3 0 0 2 2
PDZD7 0 0 2 2
PHEX, PTCHD1 1 0 1 2
PLCE1 1 0 1 2
POGZ 2 0 0 2
PPP2R1A 0 0 2 2
PRKD1 0 1 1 2
PRPS1 0 2 0 2
RNF43 2 0 0 2
RPS6KA3 0 0 2 2
RSPO4 2 0 0 2
RUVBL1, SEC61A1 0 0 2 2
SALL4 0 1 1 2
SCN3A 0 0 2 2
SEC63 0 1 1 2
SETBP1 0 1 1 2
SIX1 0 1 1 2
SMARCB1 0 0 2 2
SON 2 0 0 2
SPG7 0 0 2 2
STXBP1 1 1 0 2
TAF4 0 1 1 2
TANC2 1 0 1 2
TAOK1 0 1 1 2
TASP1 0 0 2 2
TBR1 0 0 2 2
TBX3 0 1 1 2
TDRD9 0 1 1 2
TNXB 0 1 1 2
TRPS1 2 0 0 2
USP53 1 1 0 2
USP9X 0 0 2 2
WDR26 0 0 2 2
WFS1 0 1 1 2
ZBTB20 0 1 1 2
ZEB2 1 0 1 2
ZMYM2 0 1 1 2
ABCA7 0 1 0 1
ABCB4 0 0 1 1
ABCB6 0 1 0 1
ABCC9 0 0 1 1
ABCC9, KCNJ8 0 0 1 1
ABCD1 0 0 1 1
ABCG5 0 1 0 1
ACTB 0 0 1 1
ACTG1 0 0 1 1
ACTL6B 0 1 0 1
ADAMTS2 0 1 0 1
ADCY5 0 0 1 1
ADGRV1 1 0 0 1
ADNP 1 0 0 1
AFF2 0 1 0 1
AFF4 0 0 1 1
AFG3L2 0 0 1 1
AGL 1 0 0 1
AGO1 0 0 1 1
AGPAT2 1 0 0 1
AKAP9, LOC121175350 0 0 1 1
AKT3 0 0 1 1
ALAS2 0 0 1 1
ALG9, LOC130006752 0 1 0 1
AMELX, ARHGAP6 1 0 0 1
AMER1 0 1 0 1
AMN 1 0 0 1
ANK1 1 0 0 1
ANK2 0 0 1 1
ANOS1 0 1 0 1
APC 0 1 0 1
APOA5 0 0 1 1
APOE 0 0 1 1
AQP2 0 0 1 1
ARCN1 1 0 0 1
ARHGEF9 0 0 1 1
ARID1A 0 0 1 1
ARID1B 0 1 0 1
ARSB 1 0 0 1
ARSL 0 0 1 1
ASIC4, SPEG 0 1 0 1
ASXL1 1 0 0 1
ASXL2 0 0 1 1
ASXL3 0 1 0 1
ATM 1 0 0 1
ATP11A 0 0 1 1
ATP2A2 0 1 0 1
ATP2A2, LOC126861638 0 0 1 1
ATP2B2 0 0 1 1
ATP5F1A 0 0 1 1
ATP6V0A4 1 0 0 1
ATP8A2 0 0 1 1
ATP8B1 0 0 1 1
ATRX 0 0 1 1
AURKC 0 0 1 1
AVP 0 1 0 1
AXIN2 0 0 1 1
BAG3 0 1 0 1
BAG5 0 1 0 1
BAP1 0 1 0 1
BCL2L2-PABPN1, PABPN1 1 0 0 1
BEST1 0 0 1 1
BICRA 0 0 1 1
BLM 0 0 1 1
BLOC1S1-RDH5, CD63, RDH5 0 0 1 1
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 0 1 0 1
BMPR1A 1 0 0 1
BMPR2 1 0 0 1
BRAT1 0 0 1 1
BRCA1, LOC126862571 1 0 0 1
BRIP1 1 0 0 1
BRPF1 0 1 0 1
C10orf105, CDH23 0 0 1 1
CACNA1H 0 0 1 1
CAMK2A 0 1 0 1
CAMK2B 0 0 1 1
CAMK2G 0 0 1 1
CAMTA1 0 0 1 1
CANT1 0 0 1 1
CASR 0 1 0 1
CBL 0 0 1 1
CC2D1A 0 0 1 1
CC2D2A 0 0 1 1
CCBE1 0 1 0 1
CCN6 0 1 0 1
CCND2 0 0 1 1
CCNH, RASA1 0 1 0 1
CD2AP 0 1 0 1
CD55 1 0 0 1
CDC42BPB 0 0 1 1
CDH1 0 0 1 1
CDH11 0 0 1 1
CDKL5 0 0 1 1
CDKL5, RS1 0 1 0 1
CELSR1 0 1 0 1
CEP290 1 0 0 1
CFAP52 0 1 0 1
CHD1 0 0 1 1
CHD5 0 0 1 1
CHM 1 0 0 1
CLCN1, LOC123956257 0 1 0 1
CLCN2 0 0 1 1
CLCN7 0 0 1 1
CLDN19 0 1 0 1
CLTC 0 1 0 1
CNGA1, LOC101927157 0 0 1 1
COL10A1, NT5DC1 0 0 1 1
COL11A2 0 0 1 1
COL3A1 0 0 1 1
COL4A2 0 1 0 1
COL5A1, LOC101448202 0 1 0 1
COL5A2 0 0 1 1
COL6A1 0 1 0 1
COL6A3 0 0 1 1
COL7A1 0 1 0 1
COL9A1 0 0 1 1
COMP 0 0 1 1
COQ2 0 0 1 1
COQ4 0 1 0 1
CPAMD8 0 0 1 1
CPOX 1 0 0 1
CPS1 1 0 0 1
CPSF1 0 1 0 1
CRB2 0 0 1 1
CRYBB2 0 0 1 1
CTNNA1 1 0 0 1
CUL7 0 1 0 1
CUX2 0 0 1 1
CYFIP2 0 0 1 1
CYP11A1 1 0 0 1
CYP1B1 1 0 0 1
CYP26B1 0 0 1 1
DDB1 0 0 1 1
DDC 0 0 1 1
DEAF1 1 0 0 1
DEPDC5 0 1 0 1
DHCR7 0 1 0 1
DHX16 0 0 1 1
DICER1 0 1 0 1
DIS3L2 0 0 1 1
DLL4 0 1 0 1
DLX3 0 1 0 1
DLX5 0 0 1 1
DM1, LOC107075317, SIX5 0 0 1 1
DMD 0 0 1 1
DNAH17 0 1 0 1
DNAJC3 0 0 1 1
DNM1 0 0 1 1
DNM1L 0 0 1 1
DNM2 0 0 1 1
DOK7, LOC129992118 0 0 1 1
DPYSL5 0 0 1 1
DRC1 1 0 0 1
DRC9, RPL35A 0 0 1 1
DSG1, DSG4 0 0 1 1
DVL3 0 0 1 1
DYNC2H1 0 0 1 1
EDNRA 0 0 1 1
EEF1A2 0 0 1 1
EGFR 0 0 1 1
ENG 0 1 0 1
ENPP1 0 0 1 1
EPG5 0 1 0 1
ERF 0 1 0 1
EYA4 0 1 0 1
F12 1 0 0 1
FBN2 0 1 0 1
FBXO11 0 1 0 1
FBXW11 0 0 1 1
FCSK 0 0 1 1
FGD1, TSR2 0 0 1 1
FGF12 0 0 1 1
FGF14 1 0 0 1
FGF23 0 0 1 1
FGFR2 0 0 1 1
FGFR3 0 0 1 1
FLNB, LOC129936935 0 0 1 1
FMR1 0 0 1 1
FN1 0 0 1 1
FN1, LOC126806498 0 0 1 1
FOXC2 0 0 1 1
FOXE3, LINC01389 0 0 1 1
FOXI1 0 1 0 1
FOXJ1 0 1 0 1
FOXL2 0 1 0 1
FOXP1 1 0 0 1
FOXP2 0 0 1 1
FRMPD4 0 1 0 1
GAB1 0 0 1 1
GABRB1 0 0 1 1
GABRB2 0 1 0 1
GALNS 0 1 0 1
GATAD2B 0 1 0 1
GATM 0 0 1 1
GCM2 0 0 1 1
GDAP1 0 0 1 1
GDF11 0 0 1 1
GFAP 0 0 1 1
GFER 0 0 1 1
GH-LCR, SCN4A 0 0 1 1
GHSR 0 0 1 1
GLE1, LOC101929270 0 0 1 1
GLRA1 0 1 0 1
GLUD1 0 0 1 1
GNAO1 0 0 1 1
GP1BB, SEPT5-GP1BB 0 0 1 1
GPR143 0 0 1 1
GPT2, LOC130058930 0 0 1 1
GRIA2 0 0 1 1
GRIK2 0 0 1 1
GRIN1 0 0 1 1
GUCY2D 0 0 1 1
H3-3B 0 0 1 1
HBA-LCR, NPRL3 0 1 0 1
HCN1 0 0 1 1
HDAC8 0 0 1 1
HIVEP2 1 0 0 1
HMBS 0 0 1 1
HMGA2 0 0 1 1
HSALR1, PIEZO1 0 1 0 1
HTRA1 0 0 1 1
IDS 0 0 1 1
IDUA, SLC26A1 0 0 1 1
IFIH1 0 0 1 1
IFT122 0 0 1 1
IFT172 0 1 0 1
IFT172, LOC126806174 0 0 1 1
IGF1R, LOC126862245 0 0 1 1
IGF2, INS-IGF2 0 1 0 1
IMPDH1 0 1 0 1
INVS 1 0 0 1
IQSEC2 0 1 0 1
IRF2BPL, LOC107984638 0 1 0 1
IRF6 0 1 0 1
IRF8 0 0 1 1
JUP 0 0 1 1
KAT6A 0 0 1 1
KCNA5 0 0 1 1
KCNB1 0 0 1 1
KCNC2 0 1 0 1
KCNC3 0 0 1 1
KCNH1 0 0 1 1
KCNJ5 0 0 1 1
KCNK3 0 0 1 1
KCNN2 0 0 1 1
KCNN3 0 0 1 1
KCNQ1 1 0 0 1
KCNQ2 0 1 0 1
KCNT1 0 0 1 1
KDM3B 0 0 1 1
KDM5B 0 0 1 1
KDM5C 0 0 1 1
KDM6B 0 1 0 1
KIF1A 0 0 1 1
KIF21A 1 0 0 1
KIF2A 0 0 1 1
KIF5A 0 0 1 1
KIRREL2, NPHS1 0 0 1 1
KLHL15 0 0 1 1
KMT2A, TTC36 0 0 1 1
KMT2B 1 0 0 1
KMT5B 0 0 1 1
LARS1 0 0 1 1
LCAT 0 0 1 1
LDLRAP1, LOC129929773 0 1 0 1
LHCGR, STON1-GTF2A1L 0 0 1 1
LMNB2 0 0 1 1
LOC105369937, MYBPC1 0 0 1 1
LOC106780803, TNXB 0 0 1 1
LOC107652445, SHOX 0 0 1 1
LOC110120845, PAX2 0 0 1 1
LOC126806421, TTN 0 0 1 1
LOC126806427, TTN 0 1 0 1
LOC126806878, TBL1XR1 0 0 1 1
LOC126859690, PKHD1 0 0 1 1
LOC126859807, TNFAIP3 0 1 0 1
LOC126859827, TAB2 0 1 0 1
LOC126860802, ZMYND11 1 0 0 1
LOC126862361, SLC12A3 0 1 0 1
LOC126862696, PIEZO2 0 1 0 1
LOC129391064, MAN2B1 0 0 1 1
LOC129936665, SETD2 0 0 1 1
LOC129996828, RRAGD 0 1 0 1
LOC129998225, RP9 0 1 0 1
LONP1 0 0 1 1
LRP4 0 0 1 1
LZTFL1 0 0 1 1
LZTR1 0 0 1 1
MAGED2 0 0 1 1
MANBA 0 1 0 1
MAOA 0 0 1 1
MAP2K2 0 1 0 1
MAP3K1 0 0 1 1
MAPRE2 0 0 1 1
MAST3 0 0 1 1
MBD5 0 1 0 1
MCCC2 0 0 1 1
MCOLN1 0 0 1 1
MECP2 0 1 0 1
MEI1 0 1 0 1
MEIOB 1 0 0 1
MFN2 0 0 1 1
MFSD8 0 0 1 1
MID1 1 0 0 1
MIP 0 1 0 1
MIR9718, SIX1 0 0 1 1
MITF 0 1 0 1
MLH1 0 0 1 1
MNS1 0 0 1 1
MOCOS 0 0 1 1
MORC2 0 0 1 1
MPEG1 0 0 1 1
MRAS 0 0 1 1
MSH6 0 0 1 1
MSX2 0 0 1 1
MTHFR 0 0 1 1
MTOR 0 0 1 1
MUC1 0 0 1 1
MVP-DT, PRRT2 0 1 0 1
MYBPC1 0 0 1 1
MYH11, NDE1 0 0 1 1
MYH3 0 0 1 1
MYL3 0 0 1 1
MYO1E 0 0 1 1
MYRF 0 1 0 1
NAA10 0 0 1 1
NADSYN1 0 1 0 1
NALCN 0 0 1 1
NARS1 0 0 1 1
NDUFB11 0 1 0 1
NDUFS1 0 0 1 1
NEB 0 0 1 1
NEDD4L 0 0 1 1
NEUROD1 0 1 0 1
NEXMIF 1 0 0 1
NFIB 1 0 0 1
NKX2-1, SFTA3 0 1 0 1
NKX2-5 0 0 1 1
NOTCH3 0 0 1 1
NPRL2 0 0 1 1
NR0B1 0 0 1 1
NR2F1 0 0 1 1
NR2F2 0 0 1 1
NR3C2 0 1 0 1
NR4A2 0 1 0 1
NRAS 0 0 1 1
NRIP1 0 0 1 1
NSMF 0 0 1 1
NTRK2 0 0 1 1
OBI1, POU4F1 0 0 1 1
OCA2 0 0 1 1
OTOGL 1 0 0 1
OTUD5 0 0 1 1
PAFAH1B1 0 0 1 1
PAX8 0 0 1 1
PCNT 0 0 1 1
PDE10A 0 0 1 1
PDE4D 0 0 1 1
PDE6B 0 1 0 1
PDHA1 0 1 0 1
PDX1 0 1 0 1
PHKA1 0 0 1 1
PHOX2B 0 1 0 1
PI4KA 0 1 0 1
PIEZO1 0 0 1 1
PITX1 0 0 1 1
PITX2 0 0 1 1
PKP2 0 0 1 1
PLCB4 0 0 1 1
PLS1 0 0 1 1
PMPCA 0 0 1 1
PMS2 0 0 1 1
POC1A 1 0 0 1
POLR3A 0 0 1 1
POMT1 0 0 1 1
POU3F4 0 0 1 1
PPARG 0 0 1 1
PPP1R12A 0 1 0 1
PPP3CA 1 0 0 1
PRDM16 0 0 1 1
PRKAG2 0 0 1 1
PRKAR1B 0 0 1 1
PRMT7 1 0 0 1
PROKR2 0 0 1 1
PROM1 0 1 0 1
PROS1 0 0 1 1
PRPF8 0 0 1 1
PRSS1, TRB 0 0 1 1
PTCHD1 0 0 1 1
PTEN 0 1 0 1
PTHLH 0 1 0 1
PTPRQ 0 0 1 1
PXDN 0 0 1 1
RAD21 1 0 0 1
RAX2 1 0 0 1
RB1 1 0 0 1
RBM20 0 0 1 1
RDX 0 0 1 1
REEP2 0 0 1 1
RERE 0 0 1 1
RMND1 1 0 0 1
ROBO4 0 0 1 1
RPGR 0 1 0 1
RPGRIP1L 0 0 1 1
RPL3L 0 0 1 1
RRM2B 0 1 0 1
RSPH9 0 0 1 1
SATB2 0 0 1 1
SBF1 0 0 1 1
SCN10A 0 1 0 1
SCN11A 0 0 1 1
SCN1A, SCN9A 0 0 1 1
SCN4A 0 0 1 1
SCNN1B 1 0 0 1
SEC23B 0 0 1 1
SERPINI1 0 0 1 1
SET 1 0 0 1
SETD1A 0 1 0 1
SETD1B 0 0 1 1
SETD5 0 1 0 1
SETX 0 0 1 1
SGPL1 0 0 1 1
SHANK3 0 1 0 1
SHH 1 0 0 1
SLC12A5 0 0 1 1
SLC12A6 0 0 1 1
SLC16A1 0 1 0 1
SLC17A8 0 1 0 1
SLC1A3 0 0 1 1
SLC2A9 0 0 1 1
SLC30A9 0 0 1 1
SLC34A2 0 0 1 1
SLC3A1 0 1 0 1
SLC6A1 0 1 0 1
SLC6A5 0 0 1 1
SLCO2A1 0 0 1 1
SMAD3 0 0 1 1
SMARCD1 0 0 1 1
SMARCE1 0 1 0 1
SMS 0 0 1 1
SOS1 0 0 1 1
SOS2 0 0 1 1
SOX5 0 1 0 1
SOX6 0 1 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 1
SPINK5 1 0 0 1
SPTBN1 0 0 1 1
SPTBN2 0 0 1 1
SRCAP 0 1 0 1
STAG2 0 0 1 1
STK11 0 0 1 1
STS 0 0 1 1
STUB1 0 0 1 1
SUFU 0 0 1 1
SUPT16H 0 0 1 1
SUZ12 0 0 1 1
SYCP2 0 1 0 1
SYNE2 0 0 1 1
SYNE4 0 1 0 1
SYT1 0 0 1 1
TBL1XR1 0 0 1 1
TBX18 0 0 1 1
TBX4 1 0 0 1
TBX5 0 0 1 1
TCF12 0 1 0 1
TCIRG1 0 0 1 1
TENM4 0 0 1 1
TET3 0 1 0 1
TEX15 0 1 0 1
TFE3 0 0 1 1
TGFBR2 0 0 1 1
THBD 0 0 1 1
THOC2 0 0 1 1
THRB 0 0 1 1
TJP2 0 1 0 1
TMC1 0 0 1 1
TMEM237 1 0 0 1
TMEM67 0 0 1 1
TMPRSS3 0 0 1 1
TMTC3 0 0 1 1
TNNI3 0 0 1 1
TNNT1 0 0 1 1
TPM1 0 0 1 1
TPM3 0 0 1 1
TPM4 0 0 1 1
TRAF7 0 0 1 1
TRMT10C 0 0 1 1
TRPC3 0 0 1 1
TRPM4 0 0 1 1
TRPV4 0 0 1 1
TTC21B 0 0 1 1
TTC8 1 0 0 1
TUBB2B 0 0 1 1
TUBB4A 0 0 1 1
TULP1 0 0 1 1
UBA2 0 1 0 1
UBE2A 0 1 0 1
WDR19 0 0 1 1
WNK1 0 0 1 1
XDH 0 1 0 1
YARS1 0 0 1 1
ZC4H2 0 0 1 1
ZEB1 0 1 0 1
ZNF148 0 1 0 1
ZNF292 0 0 1 1
ZSWIM6 0 0 1 1

Condition and significance breakdown #

Total conditions: 858
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Polycystic kidney disease, adult type 140 16 131 287
Autosomal dominant Alport syndrome 15 51 21 87
X-linked Alport syndrome 25 32 20 77
Autosomal recessive Alport syndrome 11 33 8 52
Polycystic kidney disease 2 33 2 9 44
Renal cysts and diabetes syndrome 5 12 12 29
Familial renal glucosuria 5 6 13 24
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 11 8 19
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 1 17 19
Familial juvenile hyperuricemic nephropathy type 1 0 13 5 18
Hemolytic uremic syndrome, atypical, susceptibility to, 1 4 6 7 17
Polycystic kidney disease 4 5 3 9 17
Dent disease type 1 2 6 7 15
Focal segmental glomerulosclerosis 2 0 1 14 15
Atypical hemolytic-uremic syndrome with I factor anomaly 2 5 7 14
Familial hypokalemia-hypomagnesemia 2 2 9 13
Dilated cardiomyopathy 1G 0 9 3 12
Marfan syndrome 2 5 5 12
Retinitis pigmentosa 80 0 11 1 12
Focal segmental glomerulosclerosis 1 0 4 7 11
Intellectual disability, autosomal dominant 45 1 3 7 11
Tuberous sclerosis 2 4 1 6 11
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 3 1 6 10
Focal segmental glomerulosclerosis 7 1 2 7 10
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 5 4 10
Polycystic kidney disease 6 with or without polycystic liver disease 1 4 5 10
Focal segmental glomerulosclerosis 5 0 6 3 9
Polycystic kidney disease 3 with or without polycystic liver disease 1 6 2 9
Imerslund-Grasbeck syndrome type 1 4 2 2 8
Neurofibromatosis, type 1 6 0 2 8
Polycystic kidney disease 7 0 3 5 8
Renal coloboma syndrome 1 3 4 8
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 7 7
Kabuki syndrome 1 2 2 3 7
Upshaw-Schulman syndrome 2 2 3 7
Autosomal recessive hypophosphatemic bone disease 0 2 4 6
Developmental and epileptic encephalopathy, 69 0 1 5 6
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 3 1 6
Familial juvenile hyperuricemic nephropathy type 2 0 0 6 6
Hypercalcemia, infantile, 1 3 1 2 6
Hypertrophic cardiomyopathy 26 0 0 6 6
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 3 3 6
Nephrotic syndrome, type 4 0 0 6 6
Proteinuria, chronic benign 3 1 2 6
Renal dysplasia, cystic, susceptibility to 0 4 2 6
Wiedemann-Steiner syndrome 0 3 3 6
Breast-ovarian cancer, familial, susceptibility to, 1 4 0 1 5
CHARGE syndrome 0 0 5 5
Central core myopathy 0 0 5 5
Developmental and epileptic encephalopathy, 11 0 4 1 5
Ehlers-Danlos syndrome, classic type, 1 1 1 3 5
Familial X-linked hypophosphatemic vitamin D refractory rickets 3 0 2 5
Hypoparathyroidism, deafness, renal disease syndrome 1 4 0 5
Intellectual developmental disorder with autism and macrocephaly 1 1 3 5
Maturity-onset diabetes of the young type 2 1 3 1 5
Nail-patella-like renal disease 0 1 4 5
Nephronophthisis 4 2 2 1 5
Renal hypodysplasia/aplasia 3 0 2 3 5
Renal tubular acidosis with progressive nerve deafness 1 1 3 5
Adult hypophosphatasia 1 2 1 4
Aortic valve disease 2 0 3 1 4
Bardet-Biedl syndrome 10 2 0 2 4
Branchiootorenal syndrome 1 0 0 4 4
Chopra-Amiel-Gordon syndrome 0 0 4 4
Congenital muscular hypertrophy-cerebral syndrome 0 0 4 4
Cornelia de Lange syndrome 1 0 0 4 4
Delpire-McNeill syndrome 0 1 3 4
Developmental and epileptic encephalopathy, 5 0 3 1 4
Diabetes insipidus, nephrogenic, X-linked 2 1 1 4
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 1 3 4
Hypophosphatemic nephrolithiasis/osteoporosis 1 0 1 3 4
Intellectual developmental disorder, autosomal dominant 66 0 1 3 4
Intellectual disability, autosomal dominant 57 0 2 2 4
KBG syndrome 1 3 0 4
Lissencephaly 9 with complex brainstem malformation 0 0 4 4
Lynch syndrome 1 3 0 1 4
Maturity-onset diabetes of the young type 1 0 2 2 4
Microcephaly 18, primary, autosomal dominant 0 1 3 4
Orofaciodigital syndrome I 0 3 1 4
Retinitis pigmentosa 11 2 2 0 4
Severe myoclonic epilepsy in infancy 1 1 2 4
Sifrim-Hitz-Weiss syndrome 0 1 3 4
Townes-Brocks syndrome 1 0 3 1 4
Tuberous sclerosis 1 1 2 1 4
ALG9 congenital disorder of glycosylation 0 2 1 3
Aarskog syndrome 0 1 2 3
Alagille syndrome due to a NOTCH2 point mutation 0 1 2 3
Aniridia 1 2 0 1 3
Anophthalmia/microphthalmia-esophageal atresia syndrome 0 2 1 3
Autosomal dominant distal renal tubular acidosis 0 2 1 3
Bartter disease type 1 0 0 3 3
Bethlem myopathy 2 0 1 2 3
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 1 1 3
Branchiootic syndrome 3 0 1 2 3
Breast-ovarian cancer, familial, susceptibility to, 2 2 0 1 3
CTCF-related neurodevelopmental disorder 0 1 2 3
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 2 1 3
Charcot-Marie-Tooth disease axonal type 2N 1 0 2 3
Charcot-Marie-Tooth disease axonal type 2O 0 1 2 3
Charcot-Marie-Tooth disease axonal type 2T 1 2 0 3
Clark-Baraitser syndrome 0 1 2 3
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 2 0 3
Congenital myasthenic syndrome 2A 0 1 2 3
Cornelia de Lange syndrome 3 0 2 1 3
Creatine transporter deficiency 1 1 1 3
Developmental and epileptic encephalopathy 94 0 1 2 3
Developmental and epileptic encephalopathy, 13 0 0 3 3
Developmental and epileptic encephalopathy, 32 1 0 2 3
Developmental delay with or without dysmorphic facies and autism 0 0 3 3
Episodic ataxia type 2 1 2 0 3
Familial idiopathic hypercalciuria 0 2 1 3
Finnish congenital nephrotic syndrome 1 0 2 3
Focal segmental glomerulosclerosis 8 0 0 3 3
Growth delay due to insulin-like growth factor I resistance 0 1 2 3
Hao-Fountain syndrome due to USP7 mutation 1 0 2 3
Hereditary spastic paraplegia 54 1 0 2 3
Hirschsprung disease, susceptibility to, 1 0 1 2 3
Hypercholesterolemia, familial, 1 0 0 3 3
Hyperlipidemia, familial combined, LPL related 1 2 0 3
Immunodeficiency, common variable, 7 0 1 2 3
Immunoglobulin-mediated membranoproliferative glomerulonephritis 0 0 3 3
Intellectual developmental disorder 61 0 0 3 3
Intellectual disability, X-linked 102 0 1 2 3
Kleefstra syndrome 2 0 2 1 3
Left ventricular noncompaction 7 0 0 3 3
Lessel-Kreienkamp syndrome 0 0 3 3
Long QT syndrome 2 1 2 0 3
Nephrotic syndrome, type 12 1 0 2 3
Nephrotic syndrome, type 20 0 2 1 3
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 1 2 3
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 0 3 3
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 2 3
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 2 1 3
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 2 3
Neurodevelopmental disorder with visual defects and brain anomalies 0 0 3 3
Nicolaides-Baraitser syndrome 0 1 2 3
Polycystic liver disease 4 with or without kidney cysts 0 1 2 3
Primary hypomagnesemia 0 0 3 3
Rauch-Steindl syndrome 0 1 2 3
Renal-hepatic-pancreatic dysplasia 2 0 0 3 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 3 3
SIN3A-related intellectual disability syndrome due to a point mutation 1 1 1 3
Snijders Blok-Campeau syndrome 0 0 3 3
Sotos syndrome 1 0 2 3
Syndromic X-linked intellectual disability 94 0 1 2 3
Usher syndrome type 2A 2 0 1 3
Ververi-Brady syndrome 0 0 3 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 2 0 2
Alagille syndrome due to a JAG1 point mutation 0 1 1 2
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 2 2
Andersen Tawil syndrome 0 0 2 2
Arthrogryposis, Perthes disease, and upward gaze palsy; NEK9-related lethal skeletal dysplasia 0 2 0 2
Arthrogryposis, distal, with impaired proprioception and touch 0 1 1 2
Atelosteogenesis type I 0 1 1 2
Au-Kline syndrome 0 0 2 2
Autosomal dominant nonsyndromic hearing loss 11 0 0 2 2
Autosomal dominant nonsyndromic hearing loss 22 0 2 0 2
Autosomal dominant omodysplasia 0 0 2 2
Autosomal dominant optic atrophy classic form 1 0 1 2
Autosomal recessive nonsyndromic hearing loss 22 0 0 2 2
Autosomal recessive nonsyndromic hearing loss 3 1 0 1 2
Autosomal recessive nonsyndromic hearing loss 77 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 89 1 1 0 2
Bardet-Biedl syndrome 7 2 0 0 2
Bartter disease type 2 0 1 1 2
Brachydactyly type B1 0 0 2 2
CHEK2-related cancer predisposition 1 0 1 2
Cardiofaciocutaneous syndrome 3 0 1 1 2
Charcot-Marie-Tooth disease, demyelinating, type 1J 0 0 2 2
Childhood onset GLUT1 deficiency syndrome 2 0 0 2 2
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 1 1 0 2
Coffin-Lowry syndrome 0 0 2 2
Coffin-Siris syndrome 6 0 0 2 2
Congenital heart defects and ectodermal dysplasia 0 1 1 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1 0 2
DYRK1A-related intellectual disability syndrome 1 0 1 2
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 1 1 2
Developmental and epileptic encephalopathy, 4 1 1 0 2
Developmental and epileptic encephalopathy, 42 0 1 1 2
Developmental and epileptic encephalopathy, 43 1 0 1 2
Developmental and epileptic encephalopathy, 62 0 0 2 2
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 1 2
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 2 2
Diaphragmatic hernia 4, with cardiovascular defects 0 0 2 2
Dilated cardiomyopathy 1AA 0 0 2 2
Dilated cardiomyopathy 1KK 0 0 2 2
Duane-radial ray syndrome 0 1 1 2
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 1 1 2
Epilepsy, idiopathic generalized, susceptibility to, 17 0 0 2 2
Episodic ataxia type 1 0 0 2 2
Fabry disease 0 1 1 2
Familial cancer of breast 2 0 0 2
Familial cold autoinflammatory syndrome 2 0 0 2 2
Farber lipogranulomatosis 0 2 0 2
Fraser syndrome 2 0 1 1 2
Glycogen storage disorder due to hepatic glycogen synthase deficiency 0 0 2 2
Gordon syndrome 0 2 0 2
Greig cephalopolysyndactyly syndrome 1 0 1 2
HELIX syndrome 1 1 0 2
Hearing loss, autosomal recessive 57 0 0 2 2
Hereditary lymphedema type I 0 2 0 2
Hereditary spastic paraplegia 7 0 0 2 2
Holoprosencephaly 7 0 1 1 2
Houge-Janssens syndrome 2 0 0 2 2
Hypertrophic cardiomyopathy 11 0 0 2 2
Hypertrophic cardiomyopathy 14 0 0 2 2
Hypertrophic cardiomyopathy 4 0 1 1 2
Hyperuricemic nephropathy, familial juvenile type 4 0 0 2 2
Hypokalemic tubulopathy and deafness 0 2 0 2
Hypomagnesemia, seizures, and intellectual disability 2 0 0 2 2
Ichthyosis vulgaris 0 1 1 2
Intellectual developmental disorder 62 0 1 1 2
Intellectual developmental disorder with autism and speech delay 0 0 2 2
Intellectual developmental disorder with autistic features and language delay, with or without seizures 1 0 1 2
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 1 1 2
Intellectual developmental disorder, autosomal dominant 73 0 1 1 2
Intellectual disability, X-linked 106 0 0 2 2
Intellectual disability, X-linked 30 0 0 2 2
Intellectual disability, X-linked 99 0 0 2 2
Intellectual disability, X-linked syndromic, Turner type 0 0 2 2
Intellectual disability, X-linked, syndromic 33 0 0 2 2
Intellectual disability, autosomal dominant 15 0 0 2 2
Intellectual disability, autosomal dominant 41 0 0 2 2
Intellectual disability, autosomal dominant 46 0 1 1 2
Intellectual disability, autosomal dominant 50 0 1 1 2
Intellectual disability, autosomal dominant 55, with seizures 0 2 0 2
Intellectual disability, autosomal dominant 6 0 2 0 2
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 1 1 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2 0 0 2
Keratosis follicularis 0 1 1 2
Kleefstra syndrome 1 0 2 0 2
Koolen-de Vries syndrome 1 1 0 2
Landau-Kleffner syndrome 0 1 1 2
Lissencephaly 6 with microcephaly 0 0 2 2
MGAT2-congenital disorder of glycosylation 0 1 1 2
Malan overgrowth syndrome 2 0 0 2
Malignant hyperthermia, susceptibility to, 1 0 0 2 2
Maturity-onset diabetes of the young type 13 0 0 2 2
Maturity-onset diabetes of the young type 3 0 1 1 2
Merosin deficient congenital muscular dystrophy 0 1 1 2
Microphthalmia with brain and digit anomalies 0 1 1 2
Mowat-Wilson syndrome 1 0 1 2
Mucopolysaccharidosis type 7 0 0 2 2
Multicentric carpo-tarsal osteolysis with or without nephropathy 0 1 1 2
Multiple endocrine neoplasia, type 1 0 0 2 2
Nephronophthisis 1 1 0 1 2
Nephronophthisis 20 0 0 2 2
Nephronophthisis 3 0 0 2 2
Nephrotic syndrome, IIa 26 0 1 1 2
Nephrotic syndrome, type 2 0 1 1 2
Nephrotic syndrome, type 3 1 0 1 2
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 2 2
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 1 1 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 1 1 2
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 1 1 0 2
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 1 1 2
Nonsyndromic congenital nail disorder 4 2 0 0 2
O'Donnell-Luria-Rodan syndrome 1 0 1 2
Oculofaciocardiodental syndrome 0 1 1 2
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 1 2
Paramyotonia congenita of Von Eulenburg 0 0 2 2
Pelizaeus-Merzbacher disease 0 1 1 2
Polycystic liver disease 2 0 1 1 2
Polycystic liver disease 3 with or without kidney cysts 0 0 2 2
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 1 2
Primrose syndrome 0 1 1 2
Pseudohypoaldosteronism type 2D 1 0 1 2
Pseudohypoaldosteronism type 2E 0 1 1 2
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 1 2
SHORT syndrome 0 2 0 2
Seizures, benign familial neonatal, 2 0 0 2 2
Sessile serrated polyposis cancer syndrome 2 0 0 2
Severe X-linked myotubular myopathy 1 1 0 2
Severe early-childhood-onset retinal dystrophy 1 0 1 2
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 1 1 0 2
Skraban-Deardorff syndrome 0 0 2 2
Spermatogenic failure 30 0 1 1 2
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 2 2
Stickler syndrome type 2 0 1 1 2
Suleiman-El-Hattab syndrome 0 0 2 2
Tatton-Brown-Rahman overgrowth syndrome 1 1 0 2
Tessadori-van Haaften neurodevelopmental syndrome 2 0 0 2 2
Trichorhinophalangeal dysplasia type I 2 0 0 2
Tumoral calcinosis, hyperphosphatemic, familial, 1 1 0 1 2
Ulnar-mammary syndrome 0 1 1 2
Vissers-Bodmer syndrome 0 0 2 2
Wolfram syndrome 1 0 1 1 2
X-linked progressive cerebellar ataxia 0 0 2 2
ZTTK syndrome 2 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 0 1 1
3M syndrome 1 0 1 0 1
46,XY sex reversal 6 0 0 1 1
ACCES syndrome 0 1 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 1
Achondrogenesis type II 0 1 0 1
Acrodysostosis 2 with or without hormone resistance 0 0 1 1
Acute intermittent porphyria 0 0 1 1
Adams-Oliver syndrome 5 0 1 0 1
Adams-Oliver syndrome 6 0 1 0 1
Adrenoleukodystrophy 0 0 1 1
Age related macular degeneration 13 0 1 0 1
Agenesis of the corpus callosum with peripheral neuropathy 0 0 1 1
Aicardi-Goutieres syndrome 6 0 1 0 1
Aland island eye disease 0 0 1 1
Alexander disease 0 0 1 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 1
Alternating hemiplegia of childhood 2 0 0 1 1
Alzheimer disease 9 0 1 0 1
Amelogenesis imperfecta type 1E 1 0 0 1
Amyotrophic lateral sclerosis type 4 0 0 1 1
Aneurysm-osteoarthritis syndrome 0 0 1 1
Anterior segment dysgenesis 7 0 0 1 1
Anterior segment dysgenesis 8 0 0 1 1
Aortic aneurysm, familial thoracic 11, susceptibility to 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 1 1
Aortic valve disease 1 0 0 1 1
Aortic valve disease 3 0 0 1 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 1
Arrhythmogenic right ventricular dysplasia 12 0 0 1 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 1
Arthrogryposis, distal, type 1B 0 0 1 1
Arthrogryposis, distal, type 2B3 0 0 1 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 0 1 1
Asphyxiating thoracic dystrophy 3 0 0 1 1
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0 0 1 1
Ateleiotic dwarfism 0 0 1 1
Atrial fibrillation, familial, 7 0 0 1 1
Atrial septal defect 2 0 1 0 1
Atrial septal defect 7 0 0 1 1
Atrial septal defect 9 0 0 1 1
Atypical hemolytic-uremic syndrome with B factor anomaly 0 0 1 1
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 0 0 1 1
Auriculocondylar syndrome 2 0 0 1 1
Autism, susceptibility to, X-linked 4 0 0 1 1
Autoinflammatory syndrome, familial, Behcet-like 1 0 1 0 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 0 1 0 1
Autosomal dominant Robinow syndrome 3 0 0 1 1
Autosomal dominant hypophosphatemic rickets 0 0 1 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 1 1
Autosomal dominant isolated somatotropin deficiency 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 10 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 25 0 1 0 1
Autosomal dominant osteopetrosis 2 0 0 1 1
Autosomal dominant pseudohypoaldosteronism type 1 0 1 0 1
Autosomal recessive Robinow syndrome 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 24 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 26 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 4 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 7 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 76 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 84B 1 0 0 1
Autosomal recessive osteopetrosis 1 0 0 1 1
Autosomal recessive spinocerebellar ataxia 2 0 0 1 1
Avascular necrosis of femoral head, primary, 2 0 0 1 1
Axenfeld-Rieger syndrome type 1 0 0 1 1
BAP1-related tumor predisposition syndrome 0 1 0 1
Baraitser-Winter syndrome 1 0 0 1 1
Baraitser-winter syndrome 2 0 0 1 1
Bardet-Biedl syndrome 17 0 0 1 1
Bardet-Biedl syndrome 20 0 0 1 1
Bardet-Biedl syndrome 8 1 0 0 1
Bartter disease type 5 0 0 1 1
Basal cell nevus syndrome 1 0 0 1 1
Beck-Fahrner syndrome 0 1 0 1
Becker muscular dystrophy 0 0 1 1
Benign hereditary chorea 0 1 0 1
Bernard Soulier syndrome 0 0 1 1
Beta-D-mannosidosis 0 1 0 1
Bethlem myopathy 1A 0 1 0 1
Bleeding disorder, platelet-type, 25 0 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 0 1 0 1
Bloom syndrome 0 0 1 1
Bohring-Opitz syndrome 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 1 1
Brachydactyly type E2 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 1
Brain small vessel disease 2A, autosomal dominant 0 1 0 1
Branchiootorenal syndrome 2 0 0 1 1
Brunner syndrome 0 0 1 1
Bryant-Li-Bhoj neurodevelopmental syndrome 2 0 0 1 1
CBL-related disorder 0 0 1 1
CHD7-related CHARGE syndrome 0 0 1 1
CODAS syndrome 0 0 1 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 0 1 1
Capillary malformation-arteriovenous malformation 1 0 1 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 1
Cardiac, facial, and digital anomalies with developmental delay 0 0 1 1
Cardiac-urogenital syndrome 0 1 0 1
Cardiofaciocutaneous syndrome 4 0 1 0 1
Cardiomyopathy, dilated, 2D 0 0 1 1
Cardiomyopathy, dilated, 2F 0 1 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 1 1
Cataract 15 multiple types 0 1 0 1
Cataract 3 multiple types 0 0 1 1
Cenani-Lenz syndactyly syndrome 0 0 1 1
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0 1 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 0 0 1 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 1 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2Z 0 0 1 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 1
Charcot-Marie-Tooth disease type 2A2 0 0 1 1
Charcot-Marie-Tooth disease type 4B3 0 0 1 1
Charcot-Marie-tooth disease, axonal, type 2DD 0 0 1 1
Childhood apraxia of speech 0 0 1 1
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 1 1
Cholestasis, progressive familial intrahepatic, 4 0 1 0 1
Choroideremia 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 0 1 1
Ciliary dyskinesia, primary, 43 0 1 0 1
Clubfoot 0 0 1 1
Coenzyme Q10 deficiency, primary, 1 0 0 1 1
Coffin-Siris syndrome 1 0 1 0 1
Coffin-Siris syndrome 11 0 0 1 1
Coffin-Siris syndrome 12 0 0 1 1
Coffin-Siris syndrome 5 0 1 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 1
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 1 1
Combined oxidative phosphorylation defect type 11 1 0 0 1
Combined oxidative phosphorylation defect type 30 0 0 1 1
Complement factor b deficiency 0 1 0 1
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome 1 0 0 1
Complex cortical dysplasia with other brain malformations 3 0 0 1 1
Complex cortical dysplasia with other brain malformations 7 0 0 1 1
Cone-rod dystrophy 11 1 0 0 1
Congenital adrenal hypoplasia, X-linked 0 0 1 1
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 0 0 1
Congenital anomalies of kidney and urinary tract 2 0 0 1 1
Congenital anomalies of kidney and urinary tract 3 0 0 1 1
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 0 1 1
Congenital contractural arachnodactyly 0 1 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 1
Congenital disorder of glycosylation with defective fucosylation 2 0 0 1 1
Congenital dyserythropoietic anemia, type II 0 0 1 1
Congenital fibrosis of extraocular muscles type 1 1 0 0 1
Congenital generalized lipodystrophy type 1 1 0 0 1
Congenital heart defects, multiple types, 2 0 1 0 1
Congenital heart defects, multiple types, 4 0 0 1 1
Congenital hyperammonemia, type I 1 0 0 1
Congenital myasthenic syndrome 10 0 0 1 1
Congenital myopathy 4A, autosomal dominant 0 0 1 1
Congenital myotonia, autosomal dominant form 0 1 0 1
Congenital stationary night blindness autosomal dominant 2 0 1 0 1
Corneal dystrophy, Fuchs endothelial, 6 0 1 0 1
Cornelia de Lange syndrome 4 1 0 0 1
Cornelia de Lange syndrome 5 0 0 1 1
Cowden syndrome 1 0 1 0 1
Coxopodopatellar syndrome 1 0 0 1
Cranioectodermal dysplasia 1 0 0 1 1
Craniosynostosis 2 0 0 1 1
Craniosynostosis 7; Radioulnar synostosis, nonsyndromic, susceptibility to 0 0 1 1
Cystinuria 0 1 0 1
Deficiency of alpha-mannosidase 0 0 1 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 0 1 1
Dent disease type 2 0 1 0 1
Desbuquois dysplasia 1 0 0 1 1
Developmental and epileptic encephalopathy 103 0 1 0 1
Developmental and epileptic encephalopathy 108 0 0 1 1
Developmental and epileptic encephalopathy 91 1 0 0 1
Developmental and epileptic encephalopathy 92 0 1 0 1
Developmental and epileptic encephalopathy 99 0 0 1 1
Developmental and epileptic encephalopathy, 14 0 0 1 1
Developmental and epileptic encephalopathy, 17 0 0 1 1
Developmental and epileptic encephalopathy, 2 0 0 1 1
Developmental and epileptic encephalopathy, 24 0 0 1 1
Developmental and epileptic encephalopathy, 26 0 0 1 1
Developmental and epileptic encephalopathy, 31A 0 0 1 1
Developmental and epileptic encephalopathy, 33 0 0 1 1
Developmental and epileptic encephalopathy, 45 0 0 1 1
Developmental and epileptic encephalopathy, 47 0 0 1 1
Developmental and epileptic encephalopathy, 58 0 0 1 1
Developmental and epileptic encephalopathy, 65 0 0 1 1
Developmental and epileptic encephalopathy, 67 0 0 1 1
Developmental and epileptic encephalopathy, 7 0 1 0 1
Developmental and epileptic encephalopathy, 8 0 0 1 1
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 0 1 1
Diabetes insipidus, nephrogenic, autosomal 0 0 1 1
Diabetes mellitus, permanent neonatal 3 0 1 0 1
Diabetes mellitus, transient neonatal, 2 0 1 0 1
Diamond-Blackfan anemia 5 0 0 1 1
Diets-Jongmans syndrome 0 0 1 1
Dilated cardiomyopathy 1BB 0 1 0 1
Dilated cardiomyopathy 1DD 0 0 1 1
Dilated cardiomyopathy 1EE 0 0 1 1
Dilated cardiomyopathy 1FF 0 0 1 1
Dilated cardiomyopathy 1HH 0 1 0 1
Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 0 0 1 1
Dilated cardiomyopathy 1S 0 0 1 1
Dilated cardiomyopathy 1Y 0 0 1 1
Distichiasis-lymphedema syndrome 0 0 1 1
Drash syndrome 1 0 0 1
Dyschromatosis universalis hereditaria 3 0 1 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 0 1 1
Dystonia 12 0 0 1 1
Dystonia 28, childhood-onset 1 0 0 1
Ehlers-Danlos syndrome, arthrochalasia type 0 0 1 1
Ehlers-Danlos syndrome, classic type, 2 0 0 1 1
Ehlers-Danlos syndrome, dermatosparaxis type 0 1 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 1
Elsahy-Waters syndrome 0 0 1 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 1
Encephalopathy due to GLUT1 deficiency 0 0 1 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 0 1 1
Epilepsy with myoclonic atonic seizures 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 1
Epilepsy, familial focal, with variable foci 3 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 1 1
Epiphyseal dysplasia, multiple, 6 0 0 1 1
Episodic ataxia type 6 0 0 1 1
Episodic pain syndrome, familial, 2 0 1 0 1
Euthyroid goiter; Pleuropulmonary blastoma 0 1 0 1
Exudative vitreoretinopathy 4 0 1 0 1
FG syndrome 4 0 0 1 1
FRAXE 0 1 0 1
Factor I deficiency 0 0 1 1
Factor XII deficiency disease 1 0 0 1
Familial adenomatous polyposis 1 0 1 0 1
Familial encephalopathy with neuroserpin inclusion bodies 0 0 1 1
Familial episodic pain syndrome with predominantly lower limb involvement 0 0 1 1
Familial hyperaldosteronism type II 0 0 1 1
Familial hypobetalipoproteinemia 1 0 0 1 1
Familial hypocalciuric hypercalcemia 1 0 1 0 1
Familial type 3 hyperlipoproteinemia 0 0 1 1
Familial type 5 hyperlipoproteinemia 0 0 1 1
Fanconi renotubular syndrome 1 0 0 1 1
Focal segmental glomerulosclerosis 3, susceptibility to 0 1 0 1
Focal segmental glomerulosclerosis 6 0 0 1 1
Focal segmental glomerulosclerosis 9 0 0 1 1
Fragile X syndrome 0 0 1 1
Generalized dominant dystrophic epidermolysis bullosa 0 1 0 1
Genitopatellar syndrome 0 0 1 1
Genitourinary and/or brain malformation syndrome 0 1 0 1
Glaucoma 3A 1 0 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 0 1
Glomerulopathy with fibronectin deposits 2 0 0 1 1
Glutamate pyruvate transaminase 2 deficiency 0 0 1 1
Glycogen storage disease IXd 0 0 1 1
Glycogen storage disease type III 1 0 0 1
Hearing loss, X-linked 1 0 1 0 1
Hearing loss, autosomal dominant 73 0 0 1 1
Hearing loss, autosomal dominant 76 0 0 1 1
Hearing loss, autosomal dominant 82 0 0 1 1
Hennekam lymphangiectasia-lymphedema syndrome 1 0 1 0 1
Hereditary coproporphyria 1 0 0 1
Hereditary diffuse gastric adenocarcinoma 0 0 1 1
Hereditary pancreatitis 0 0 1 1
Hereditary spastic paraplegia 10 0 0 1 1
Hereditary spastic paraplegia 2 0 0 1 1
Hereditary spastic paraplegia 72 0 0 1 1
Hereditary spherocytosis type 1 1 0 0 1
Hereditary xanthinuria type 1 0 1 0 1
Hermansky-Pudlak syndrome 11 0 1 0 1
Heterotaxy, visceral, 10, autosomal, with male infertility 0 1 0 1
Heterotaxy, visceral, 9, autosomal, with male infertility 0 0 1 1
Heyn-Sproul-Jackson syndrome 0 1 0 1
Holoprosencephaly 12 with or without pancreatic agenesis; Vissers-Bodmer syndrome 0 1 0 1
Holoprosencephaly 3 1 0 0 1
Holt-Oram syndrome 0 0 1 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 0 1 1
Hydatidiform mole, recurrent, 3 0 1 0 1
Hyperaldosteronism, familial, type IV 0 0 1 1
Hypercalcemia, infantile, 2 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 1
Hypercholesterolemia, familial, 4 0 1 0 1
Hyperekplexia 1 0 1 0 1
Hyperekplexia 3 0 0 1 1
Hyperinsulinemic hypoglycemia, familial, 2 0 1 0 1
Hyperinsulinism-hyperammonemia syndrome 0 0 1 1
Hyperlipoproteinemia, type I 0 0 1 1
Hypertrichotic osteochondrodysplasia Cantu type 0 0 1 1
Hypertrophic cardiomyopathy 1 0 0 1 1
Hypertrophic cardiomyopathy 6 0 0 1 1
Hypertrophic cardiomyopathy 8 0 0 1 1
Hypertrophic osteoarthropathy, primary, autosomal dominant 0 0 1 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 1 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 0 1 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 1
Hypogonadotropic hypogonadism 9 with or without anosmia 0 0 1 1
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy 0 1 0 1
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 0 1 0 1
Hypomyelinating leukodystrophy 6 0 0 1 1
Hypoparathyroidism, familial isolated, 2 0 0 1 1
Hypophosphatemic rickets, autosomal recessive, 2 0 0 1 1
Hypothyroidism, congenital, nongoitrous, 2 0 0 1 1
Hypotrichosis 6 0 0 1 1
Hypouricemia, renal, 2 0 0 1 1
Imagawa-Matsumoto syndrome 0 0 1 1
Imerslund-Grasbeck syndrome type 2 1 0 0 1
Immunodeficiency 36 with lymphoproliferation 0 0 1 1
Immunodeficiency 77 0 0 1 1
Immunodeficiency 95 0 0 1 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 0 1 1
Infantile liver failure syndrome 1 0 0 1 1
Infantile nephronophthisis 1 0 0 1
Infertility associated with multi-tailed spermatozoa and excessive DNA 0 0 1 1
Inflammatory skin and bowel disease, neonatal, 2 0 0 1 1
Intellectual developmental disorder 59 0 0 1 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 0 1
Intellectual developmental disorder with seizures and language delay 0 0 1 1
Intellectual developmental disorder with severe speech and ambulation defects 0 1 0 1
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 0 1 1
Intellectual developmental disorder, autosomal dominant 64 0 0 1 1
Intellectual disability, X-linked 1 0 1 0 1
Intellectual disability, X-linked 103 0 0 1 1
Intellectual disability, X-linked 104 0 1 0 1
Intellectual disability, X-linked, with or without seizures, ARX-related 0 0 1 1
Intellectual disability, autosomal dominant 1 0 1 0 1
Intellectual disability, autosomal dominant 13 0 0 1 1
Intellectual disability, autosomal dominant 14 0 0 1 1
Intellectual disability, autosomal dominant 24 1 0 0 1
Intellectual disability, autosomal dominant 29 0 1 0 1
Intellectual disability, autosomal dominant 30 1 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 1
Intellectual disability, autosomal dominant 51 0 0 1 1
Intellectual disability, autosomal dominant 53 0 1 0 1
Intellectual disability, autosomal dominant 54 0 0 1 1
Intellectual disability, autosomal dominant 56 0 1 0 1
Intellectual disability, autosomal dominant 58 1 0 0 1
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 0 1 1
Intellectual disability, autosomal recessive 3 0 0 1 1
Intellectual disability, autosomal recessive 65 0 0 1 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 1
Joubert syndrome 14 1 0 0 1
Joubert syndrome 32 0 0 1 1
Juvenile polyposis syndrome 1 0 0 1
Juvenile retinoschisis 0 1 0 1
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 0 0 1 1
Ketoacidosis due to monocarboxylate transporter-1 deficiency 0 1 0 1
Kniest dysplasia 0 1 0 1
LADD syndrome 1 0 0 1 1
Lamb-Shaffer syndrome 0 1 0 1
Lambdoidal craniosynostosis 0 1 0 1
Larsen syndrome 0 0 1 1
Leber congenital amaurosis 1 0 0 1 1
Left ventricular noncompaction 8 0 0 1 1
Leprechaunism syndrome 0 1 0 1
Lethal arthrogryposis-anterior horn cell disease syndrome 0 0 1 1
Lethal occipital encephalocele-skeletal dysplasia syndrome 0 0 1 1
Leukodystrophy, hypomyelinating, 24 0 0 1 1
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 0 1 1
Leydig cell agenesis 0 0 1 1
Linear skin defects with multiple congenital anomalies 3 0 1 0 1
Lissencephaly 8 0 0 1 1
Lissencephaly due to LIS1 mutation 0 0 1 1
Loeys-Dietz syndrome 2 0 0 1 1
Long QT syndrome 1 1 0 0 1
Long QT syndrome 11 0 0 1 1
Long QT syndrome 13 0 0 1 1
Low phospholipid associated cholelithiasis 0 0 1 1
Lowe syndrome 0 0 1 1
Luscan-Lumish syndrome 0 0 1 1
Lymphatic malformation 9 0 1 0 1
Lynch syndrome 4 0 0 1 1
Lynch syndrome 5 0 0 1 1
Macrocephaly, acquired, with impaired intellectual development 1 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 1
Macular dystrophy with central cone involvement 0 0 1 1
Mandibulofacial dysostosis with alopecia 0 0 1 1
Marbach-Schaaf neurodevelopmental syndrome 0 0 1 1
Marshall syndrome 0 1 0 1
Marshall-Smith syndrome 0 0 1 1
Maturity-onset diabetes of the young type 4 0 1 0 1
Maturity-onset diabetes of the young type 6 0 1 0 1
Meckel syndrome, type 5 0 0 1 1
Meckel syndrome, type 6 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 0 1 1
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 0 0 1 1
Metaphyseal chondrodysplasia, Schmid type 0 0 1 1
Microcephalic osteodysplastic primordial dwarfism type II 0 0 1 1
Microcephaly 27, primary, autosomal dominant 0 0 1 1
Migraine, familial hemiplegic, 3 0 0 1 1
Mitochondrial DNA depletion syndrome 8a 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 5 0 0 1 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A 0 0 1 1
Mucolipidosis type IV 0 0 1 1
Mucopolysaccharidosis type 6 1 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 1 1
Mucopolysaccharidosis, MPS-IV-A 0 1 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 0 1 1
Multiple epiphyseal dysplasia type 1 0 0 1 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 0 1 1
Myopathy, centronuclear, 5 0 1 0 1
Myopathy, congenital, with tremor 0 0 1 1
Myopia 27 0 1 0 1
Nemaline myopathy 2 0 0 1 1
Nemaline myopathy 5 0 0 1 1
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 1 0 1
Nephrolithiasis susceptibility caused by SLC26A1 0 0 1 1
Nephronophthisis 11 0 0 1 1
Nephronophthisis 12 0 0 1 1
Nephronophthisis 13 0 0 1 1
Nephrotic syndrome 14 0 0 1 1
Netherton syndrome 1 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 1 1
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 0 1 1
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 0 1 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 0 1 1
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 0 1 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 1
Neurodevelopmental disorder with or without autism or seizures 0 0 1 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 0 1 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 0 1 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 1 1
Neurohypophyseal diabetes insipidus 0 1 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 0 0 1 1
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 0 1 1
Neuronopathy, distal hereditary motor, autosomal dominant 11 0 0 1 1
Neuropathy, hereditary sensory, type 2C 0 0 1 1
Noonan syndrome 10 0 0 1 1
Noonan syndrome 11 0 0 1 1
Noonan syndrome 4 0 0 1 1
Noonan syndrome 6 0 0 1 1
Noonan syndrome 9 0 0 1 1
Norum disease 0 0 1 1
Ocular albinism, type I 0 0 1 1
Oculopharyngeal muscular dystrophy 1 1 0 0 1
Ogden syndrome 0 0 1 1
Oligodontia-cancer predisposition syndrome 0 0 1 1
Oligosynaptic infertility 0 1 0 1
Osteogenesis imperfecta type I 1 0 0 1
Osteogenesis imperfecta type III 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 1
Osteogenesis imperfecta, perinatal lethal 1 0 0 1
Osteopathia striata with cranial sclerosis 0 1 0 1
PPARG-related familial partial lipodystrophy 0 0 1 1
PULMONARY ALVEOLAR MICROLITHIASIS 0 0 1 1
Pallister-Hall syndrome 0 1 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 1 0 1
Parenti-mignot neurodevelopmental syndrome 0 0 1 1
Patterned macular dystrophy 2 1 0 0 1
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 0 0 1 1
Periventricular nodular heterotopia 7 0 0 1 1
Perlman syndrome 0 0 1 1
Peutz-Jeghers syndrome 0 0 1 1
Pfeiffer syndrome 0 1 0 1
Phelan-McDermid syndrome 0 1 0 1
Phosphoribosylpyrophosphate synthetase superactivity 0 1 0 1
Pigmentary retinal dystrophy 0 0 1 1
Pilarowski-Bjornsson syndrome 0 0 1 1
Pituitary adenoma 5, multiple types 0 0 1 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 1 0 1
Primary ciliary dyskinesia 12 0 0 1 1
Primary erythromelalgia 0 0 1 1
Progressive familial heart block type IB 0 0 1 1
Progressive familial intrahepatic cholestasis type 1 0 0 1 1
Progressive pseudorheumatoid dysplasia 0 1 0 1
Pseudohypoaldosteronism type 2C 0 0 1 1
Pseudohypoaldosteronism, type IB2, autosomal recessive 1 0 0 1
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 0 0 1 1
Pulmonary hypertension, primary, 1 1 0 0 1
Pulmonary hypertension, primary, 4 0 0 1 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 1
Rabson-Mendenhall syndrome 0 1 0 1
Renal hypomagnesemia 5 with ocular involvement 0 1 0 1
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 1 0 0 1
Retinitis pigmentosa 10 0 1 0 1
Retinitis pigmentosa 13 0 0 1 1
Retinitis pigmentosa 14 0 0 1 1
Retinitis pigmentosa 3 0 1 0 1
Retinitis pigmentosa 41 0 1 0 1
Retinitis pigmentosa 49 0 0 1 1
Retinitis pigmentosa 9 0 1 0 1
Retinoblastoma 1 0 0 1
Rett syndrome 0 1 0 1
Ritscher-Schinzel syndrome 4 0 0 1 1
SHOX-related short stature 0 0 1 1
Schinzel-Giedion syndrome 0 0 1 1
Seizures, benign familial infantile, 2 0 1 0 1
Seizures, benign familial infantile, 5 0 0 1 1
Senior-Loken syndrome 6 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 1
Shashi-Pena syndrome 0 0 1 1
Short stature due to growth hormone secretagogue receptor deficiency 0 0 1 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 1 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 1 0 0 1
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 1 0 0 1
Short-rib thoracic dysplasia 10 with or without polydactyly 0 1 0 1
Silver-Russell syndrome 3 0 1 0 1
Silver-Russell syndrome 5 0 0 1 1
Sitosterolemia 2 0 1 0 1
Skin creases, congenital symmetric circumferential, 2 0 0 1 1
Smith-Lemli-Opitz syndrome 0 1 0 1
Spermatogenic failure 22 1 0 0 1
Spermatogenic failure 25 0 1 0 1
Spermatogenic failure 39 0 1 0 1
Spermatogenic failure 80 1 0 0 1
Spinocerebellar ataxia 27A 1 0 0 1
Spinocerebellar ataxia 48 0 0 1 1
Spinocerebellar ataxia type 13 0 0 1 1
Spinocerebellar ataxia type 28 0 0 1 1
Spinocerebellar ataxia type 41 0 0 1 1
Spinocerebellar ataxia type 5 0 0 1 1
Split hand-foot malformation 1 0 0 1 1
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 1 1
Spondyloperipheral dysplasia 0 1 0 1
Stickler syndrome type 1 1 0 0 1
Stickler syndrome, type I, nonsyndromic ocular 0 0 1 1
Striatal degeneration, autosomal dominant 2 0 0 1 1
Symmetrical dyschromatosis of extremities 0 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 1
Syndromic X-linked intellectual disability Najm type 0 0 1 1
Syndromic X-linked intellectual disability Nascimento type 0 1 0 1
Syndromic X-linked intellectual disability Snyder type 0 0 1 1
TCF12-related craniosynostosis 0 1 0 1
Teebi hypertelorism syndrome 1 0 0 1 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 1
Temple-Baraitser syndrome 0 0 1 1
Tetralogy of Fallot 0 0 1 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 0 1 1
Thyroid hormone resistance, generalized, autosomal dominant 0 0 1 1
Timothy syndrome 0 1 0 1
Tolchin-Le Caignec syndrome 0 1 0 1
Tremor, hereditary essential, 5 0 0 1 1
Tubulointerstitial kidney disease, autosomal dominant, 2 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 1 1
Ullrich congenital muscular dystrophy 1A 0 0 1 1
Usher syndrome type 2C 1 0 0 1
Van der Woude syndrome 1 0 1 0 1
Vertebral hypersegmentation and orofacial anomalies 0 0 1 1
Vertebral, cardiac, renal, and limb defects syndrome 3 0 1 0 1
Vesicoureteral reflux 8 0 0 1 1
Vici syndrome 0 1 0 1
Vitelliform macular dystrophy 2 0 0 1 1
Waardenburg syndrome type 2A 0 1 0 1
White-Kernohan syndrome 0 0 1 1
Wieacker-Wolff syndrome 0 0 1 1
Wilms tumor 1 1 0 0 1
X-linked Opitz G/BBB syndrome 1 0 0 1
X-linked chondrodysplasia punctata 1 0 0 1 1
X-linked cone-rod dystrophy 3 0 1 0 1
X-linked dystonia-parkinsonism; Intellectual disability, X-linked, syndromic 33 0 0 1 1
X-linked erythropoietic protoporphyria 0 0 1 1
X-linked ichthyosis with steryl-sulfatase deficiency 0 0 1 1
X-linked intellectual disability, Cantagrel type 1 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 1
X-linked lissencephaly with abnormal genitalia 1 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 0 1 1
Xanthinuria type II 0 0 1 1
Zimmermann-Laband syndrome 3 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.