ClinVar Miner

Variants from University of Washington Center for Mendelian Genomics, University of Washington

Location: United States  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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

pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity total
130 1128 143 6 2 52 13 1468

Gene and significance breakdown #

Total genes and gene combinations: 456
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity total
DYNC2H1 0 123 0 0 0 0 0 123
ZNF292 0 23 11 0 0 0 0 34
ALG1 0 29 0 0 0 0 0 29
MYO7A 0 26 1 0 0 0 0 27
DYNC1H1 2 13 6 0 0 0 0 19
TONSL 0 18 0 0 0 0 0 18
A2ML1 0 2 14 0 0 0 0 16
SLC26A4 0 16 0 0 0 0 0 16
SON 0 16 0 0 0 0 0 16
TANC2 0 12 4 0 0 0 0 16
TMC1 0 16 0 0 0 0 0 16
CHD7 0 15 0 0 0 0 0 15
NALCN 14 0 0 0 0 1 0 15
ALG3 10 4 0 0 0 0 0 14
MN1 0 14 0 0 0 0 0 14
OCA2 0 14 0 0 0 0 0 14
TYR 0 14 0 0 0 0 0 14
C1R 0 13 0 0 0 0 0 13
CDH23 0 12 0 1 0 0 0 13
PAFAH1B1 0 11 2 0 0 0 0 13
PIEZO2 13 0 0 0 0 0 0 13
ZMIZ1 0 13 0 0 0 0 0 13
FBN1 0 5 5 2 0 0 0 12
FBXO11 0 12 0 0 0 0 0 12
NEK1 0 12 0 0 0 0 0 12
PARN 0 4 8 0 0 0 0 12
TOE1 0 12 0 0 0 0 0 12
CTNND1, TMX2-CTNND1 3 6 2 0 0 0 0 11
WDR19 0 11 0 0 0 0 0 11
ARMC9 0 10 0 0 0 0 0 10
CDH1 0 6 4 0 0 0 0 10
KCTD1 10 0 0 0 0 0 0 10
OTOF 0 10 0 0 0 0 0 10
TET3 0 9 1 0 0 0 0 10
TTC21B 0 10 0 0 0 0 0 10
CDC42 0 9 0 0 0 0 0 9
DPAGT1 0 9 0 0 0 0 0 9
FUT2, LOC105447645 0 0 0 0 0 0 9 9
GNB1 0 9 0 0 0 0 0 9
MYRF 0 9 0 0 0 0 0 9
POLR3A 0 9 0 0 0 0 0 9
RTEL1, RTEL1-TNFRSF6B 9 0 0 0 0 0 0 9
WDR35 0 9 0 0 0 0 0 9
CEP41 0 7 0 1 0 0 0 8
EVC2 0 8 0 0 0 0 0 8
FBXO11, MSH6 0 7 1 0 0 0 0 8
GJB2 0 8 0 0 0 0 0 8
LOX, SRFBP1 6 0 0 0 2 0 0 8
NOTCH1 0 4 4 0 0 0 0 8
PYCR1 0 8 0 0 0 0 0 8
TOGARAM1 0 8 0 0 0 0 0 8
CARD11 0 7 0 0 0 0 0 7
CEP85L 0 7 0 0 0 0 0 7
CHD4 0 7 0 0 0 0 0 7
DHX37 0 6 1 0 0 0 0 7
ECEL1 7 0 0 0 0 0 0 7
MACF1 0 6 1 0 0 0 0 7
TUBA1A 0 6 1 0 0 0 0 7
CDH2 0 6 0 0 0 0 0 6
EVC 0 6 0 0 0 0 0 6
FOXE3, LINC01389 0 3 1 2 0 0 0 6
MC1R 0 6 0 0 0 0 0 6
MECR 0 6 0 0 0 0 0 6
MYO15A 0 6 0 0 0 0 0 6
PLEKHA7 0 3 3 0 0 0 0 6
SOS1 0 0 6 0 0 0 0 6
TMPRSS3 0 6 0 0 0 0 0 6
DDX54 0 5 0 0 0 0 0 5
DUOX2 0 5 0 0 0 0 0 5
DYNC2I1 0 5 0 0 0 0 0 5
ESRP2 0 2 3 0 0 0 0 5
IFT80, TRIM59-IFT80 0 5 0 0 0 0 0 5
ILDR1 0 5 0 0 0 0 0 5
INPPL1 5 0 0 0 0 0 0 5
LMNA 0 0 5 0 0 0 0 5
MYH3 3 3 0 0 0 0 0 5
PLCB4 5 0 0 0 0 0 0 5
PLEKHA5 0 1 4 0 0 0 0 5
RELN 0 5 0 0 0 0 0 5
RNF213 0 5 0 0 0 0 0 5
TUBB2B 0 3 2 0 0 0 0 5
USH1G 0 5 0 0 0 0 0 5
VWA8 0 5 0 0 0 0 0 5
CASK 0 4 0 0 0 0 0 4
DHX16 0 4 0 0 0 0 0 4
ERCC4 0 2 2 0 0 0 0 4
IFT140, LOC105371046 0 4 0 0 0 0 0 4
INTU 0 4 0 0 0 0 0 4
LOC105371856, TANC2 0 3 1 0 0 0 0 4
PJVK 0 4 0 0 0 0 0 4
PRR12 0 4 0 0 0 0 0 4
SMAD4 0 2 2 0 0 0 0 4
SOX4 0 4 0 0 0 0 0 4
SOX9 0 4 0 0 0 0 0 4
SRD5A3 0 4 0 0 0 0 0 4
TBCEL-TECTA, TECTA 0 4 0 0 0 0 0 4
TRAF3IP1 0 4 0 0 0 0 0 4
ACTG1 0 2 1 0 0 0 0 3
ALG13 0 3 0 0 0 0 0 3
ARID1B 0 3 0 0 0 0 0 3
ASXL1 0 3 0 0 0 0 0 3
CNOT3 0 3 0 0 0 0 0 3
DCX 0 3 0 0 0 0 0 3
DHX34 0 3 0 0 0 0 0 3
DPAGT1, LOC126861360 0 3 0 0 0 0 0 3
DYNC2I2 0 3 0 0 0 0 0 3
DYNC2I2, LOC126860772 0 3 0 0 0 0 0 3
FGFR1 0 3 0 0 0 0 0 3
GLE1, LOC101929270 0 3 0 0 0 0 0 3
GRK2 1 2 0 0 0 0 0 3
GUCY1A1 3 0 0 0 0 0 0 3
IFT43 0 3 0 0 0 0 0 3
IFT52 0 3 0 0 0 0 0 3
KDM1A 3 0 0 0 0 0 0 3
LAMA5 0 3 0 0 0 0 0 3
LOC112441444, MYL11 0 3 0 0 0 0 0 3
PHYH 0 3 0 0 0 0 0 3
SAMD9L 0 3 0 0 0 0 0 3
SCARF2 3 0 0 0 0 0 0 3
SETD5 0 3 0 0 0 0 0 3
SLC35A2 3 0 0 0 0 0 0 3
STXBP1 0 3 0 0 0 0 0 3
TBCK 0 3 0 0 0 0 0 3
TTN 0 1 2 0 0 0 0 3
WDPCP 0 2 1 0 0 0 0 3
ABL1 1 1 0 0 0 0 0 2
ACTG2 2 0 0 0 0 0 0 2
ALOXE3 1 1 0 0 0 0 0 2
ARIH1 0 0 0 0 0 2 0 2
BCL11A 0 2 0 0 0 0 0 2
BRCA1 2 2 0 0 0 0 0 2
C10orf105, CDH23 0 2 0 0 0 0 0 2
C1S 0 2 0 0 0 0 0 2
CACNA1D 0 2 0 0 0 0 0 2
CASC19 0 0 0 0 0 2 0 2
CAV1 2 0 0 0 0 0 0 2
CEP85L, LOC129997071 0 2 0 0 0 0 0 2
CIB2 0 2 0 0 0 0 0 2
DDX3X 0 2 0 0 0 0 0 2
DST 0 1 0 0 0 1 0 2
FOXP1 0 2 0 0 0 0 0 2
FUZ 0 2 0 0 0 0 0 2
GET4 0 2 0 0 0 0 0 2
GFM1 0 2 0 0 0 0 0 2
GRXCR1 0 2 0 0 0 0 0 2
HKDC1 0 2 0 0 0 0 0 2
HPS1 0 2 0 0 0 0 0 2
HYLS1, PUS3 0 2 0 0 0 0 0 2
IFT74 0 2 0 0 0 0 0 2
IFT81 0 2 0 0 0 0 0 2
INPPL1, LOC130006327 2 0 0 0 0 0 0 2
INTU, LOC126807151 0 2 0 0 0 0 0 2
KIAA0825 0 2 0 0 0 0 0 2
KMT2D 0 2 0 0 0 0 0 2
LBR 0 2 0 0 0 0 0 2
LHFPL5 0 2 0 0 0 0 0 2
LRP4 0 2 0 0 0 0 0 2
LTBP3 0 0 0 0 0 0 2 2
LURAP1L, TYRP1 0 2 0 0 0 0 0 2
MARVELD2 0 2 0 0 0 0 0 2
NSUN2 0 2 0 0 0 0 0 2
OTOA 0 2 0 0 0 0 0 2
PCDH15 0 2 0 0 0 0 0 2
PIBF1 0 2 0 0 0 0 0 2
PMM2 0 2 0 0 0 0 0 2
POGZ 0 2 0 0 0 0 0 2
PTPRQ 0 2 0 0 0 0 0 2
PTPRS 0 0 2 0 0 0 0 2
RARS2 0 2 0 0 0 0 0 2
RBM20 0 0 2 0 0 0 0 2
RERE 0 2 0 0 0 0 0 2
ROBO4 0 2 0 0 0 0 0 2
RPS26 2 0 0 0 0 0 0 2
SETD2 0 2 0 0 0 0 0 2
SLC35A1 0 2 0 0 0 0 0 2
SLITRK5 0 0 0 0 0 2 0 2
SMAD6 0 2 0 0 0 0 0 2
SYNCRIP 0 0 0 0 0 2 0 2
TMIE 0 2 0 0 0 0 0 2
TRANK1 0 0 0 0 0 2 0 2
TRIOBP 0 2 0 0 0 0 0 2
TUBG1 0 2 0 0 0 0 0 2
USH1C 0 2 0 0 0 0 0 2
USH2A 0 2 0 0 0 0 0 2
WDR62 0 2 0 0 0 0 0 2
YY1AP1 2 0 0 0 0 0 0 2
ZGRF1 0 2 0 0 0 0 0 2
​intergenic 0 0 0 0 0 1 0 1
ABHD5 0 1 0 0 0 0 0 1
ACACB 0 0 0 0 0 1 0 1
ACADVL, DLG4 0 0 0 0 0 1 0 1
ACSS2, LOC126863018 1 0 0 0 0 0 0 1
ADGRV1 0 1 0 0 0 0 0 1
ADNP 0 1 0 0 0 0 0 1
AGMAT 0 1 0 0 0 0 0 1
AHDC1 0 1 0 0 0 0 0 1
ALDH3A2 0 1 0 0 0 0 0 1
ALG1, EEF2KMT 0 1 0 0 0 0 0 1
ALG1, LOC130058384 0 1 0 0 0 0 0 1
ALOXE3, LOC126862485, LOC130060199, TRK-TTT3-5 1 0 0 0 0 0 0 1
ARHGEF25 0 1 0 0 0 0 0 1
ARID1A 0 1 0 0 0 0 0 1
ARIH1, LOC130057478 0 0 0 0 0 1 0 1
ASAH1 0 1 0 0 0 0 0 1
ASPM 0 1 0 0 0 0 0 1
ATAD3A 1 0 0 0 0 0 0 1
ATP10A 0 0 0 0 0 1 0 1
AUTS2 0 1 0 0 0 0 0 1
BACH1 0 0 1 0 0 0 0 1
BAG3 0 0 1 0 0 0 0 1
BAG6 0 0 1 0 0 0 0 1
BCKDK 0 1 0 0 0 0 0 1
BIRC6 0 0 0 0 0 1 0 1
BIVM-ERCC5, ERCC5, LOC126861834 0 1 0 0 0 0 0 1
BLK, CTSB, DEFB134, DEFB135, DEFB136, FDFT1, GATA4, NEIL2 0 1 0 0 0 0 0 1
BLOC1S6 0 1 0 0 0 0 0 1
BMP2 0 0 1 0 0 0 0 1
BMPR1B 0 1 0 0 0 0 0 1
BRAF 0 1 0 0 0 0 0 1
BSND 0 1 0 0 0 0 0 1
C1R, C1RL 0 1 0 0 0 0 0 1
CABP2 0 1 0 0 0 0 0 1
CACNG7 0 1 0 0 0 0 0 1
CANT1 0 1 0 0 0 0 0 1
CAPRIN1 0 1 0 0 0 0 0 1
CARNMT1, LOC130001900 0 1 0 0 0 0 0 1
CASC21 0 0 0 0 0 1 0 1
CASC21, CASC8 0 0 0 0 0 1 0 1
CASC8 0 0 0 0 0 1 0 1
CCDC183 0 1 0 0 0 0 0 1
CDH18 0 0 1 0 0 0 0 1
CDH23, LOC111982869 0 1 0 0 0 0 0 1
CEP78 0 1 0 0 0 0 0 1
CEP85L, PLN 0 0 1 0 0 0 0 1
CHD8 0 1 0 0 0 0 0 1
CHEK2, MN1, PITPNB, TTC28 0 1 0 0 0 0 0 1
CHSY1 0 0 1 0 0 0 0 1
CIBAR1 0 1 0 0 0 0 0 1
CILK1 0 1 0 0 0 0 0 1
CLCNKA, LOC106501712 0 1 0 0 0 0 0 1
CLDN14 0 1 0 0 0 0 0 1
CLSTN3 0 0 0 0 0 1 0 1
CNNM2 0 1 0 0 0 0 0 1
COL1A1 0 1 0 0 0 0 0 1
COL7A1 0 1 0 0 0 0 0 1
COL9A3 0 1 0 0 0 0 0 1
CRADD 0 1 0 0 0 0 0 1
CREB3L1 0 1 0 0 0 0 0 1
CREBBP 0 1 0 0 0 0 0 1
CSMD1 0 0 0 0 0 1 0 1
CSMD2 0 0 1 0 0 0 0 1
CUL2 0 1 0 0 0 0 0 1
CWF19L1 0 1 0 0 0 0 0 1
CYB5R3 0 0 1 0 0 0 0 1
DAGLA 0 0 1 0 0 0 0 1
DCDC2 1 0 0 0 0 0 0 1
DCDC2, KAAG1 1 0 0 0 0 0 0 1
DHX38 0 1 0 0 0 0 0 1
DKC1 0 1 0 0 0 0 0 1
DMRTC1, DMRTC1B, HDAC8, NAP1L2, PABPC1L2A, PABPC1L2B, PHKA1 1 0 0 0 0 0 0 1
DMXL2 0 0 0 0 0 1 0 1
DNHD1 0 1 0 0 0 0 0 1
DNM2 0 1 0 0 0 0 0 1
DPYSL5 0 0 1 0 0 0 0 1
DSP 0 0 1 0 0 0 0 1
DYNC2I2, SPTAN1 0 1 0 0 0 0 0 1
DYNC2LI1 0 1 0 0 0 0 0 1
DYNLT4 0 0 1 0 0 0 0 1
EDNRB 0 1 0 0 0 0 0 1
EEF1D 0 1 0 0 0 0 0 1
EI24, STT3A 0 1 0 0 0 0 0 1
ELP4 0 0 0 0 0 1 0 1
EP300 0 1 0 0 0 0 0 1
EPS8 0 1 0 0 0 0 0 1
ERICH5, POP1, RIDA, VPS13B 0 1 0 0 0 0 0 1
ESPN 0 1 0 0 0 0 0 1
ESRRB 0 1 0 0 0 0 0 1
EVC2, LOC126806961 0 1 0 0 0 0 0 1
FAM228B 0 0 1 0 0 0 0 1
FASN 0 0 0 0 0 1 0 1
FBN1, LOC126862124 0 0 1 0 0 0 0 1
FBRSL1 0 1 0 0 0 0 0 1
FBXL4 0 1 0 0 0 0 0 1
FBXO11, FOXN2, MSH6, PPP1R21 0 1 0 0 0 0 0 1
FERMT1 0 1 0 0 0 0 0 1
FLG 0 1 0 0 0 0 0 1
FLNC 0 1 0 0 0 0 0 1
FLVCR1 0 1 0 0 0 0 0 1
FLVCR1, LOC129932486 0 1 0 0 0 0 0 1
FST 0 1 0 0 0 0 0 1
FUT2 0 0 0 0 0 0 1 1
FXR1 0 1 0 0 0 0 0 1
FZD3 0 1 0 0 0 0 0 1
GAN 0 1 0 0 0 0 0 1
GARNL3 0 1 0 0 0 0 0 1
GAS2L2 0 1 0 0 0 0 0 1
GATA4 0 1 0 0 0 0 0 1
GDF11 0 1 0 0 0 0 0 1
GEMIN5 0 0 1 0 0 0 0 1
GIPC3 0 1 0 0 0 0 0 1
GNAI3, LOC129931108 1 0 0 0 0 0 0 1
GPR151 0 1 0 0 0 0 0 1
GPSM2 0 1 0 0 0 0 0 1
GPT2 0 0 1 0 0 0 0 1
GRAMD1B 0 1 0 0 0 0 0 1
GRIA1 0 1 0 0 0 0 0 1
GRM5 0 0 0 0 0 1 0 1
HMOX1 0 1 0 0 0 0 0 1
HPS3 0 1 0 0 0 0 0 1
HPS4 0 1 0 0 0 0 0 1
HPS6 0 1 0 0 0 0 0 1
IFT140 0 1 0 0 0 0 0 1
IFT172, LOC126806174 0 1 0 0 0 0 0 1
IFT88 0 1 0 0 0 0 0 1
ILDR2 0 1 0 0 0 0 0 1
JMJD1C 0 0 0 0 0 1 0 1
KAT6A 0 1 0 0 0 0 0 1
KAT6B 0 1 0 0 0 0 0 1
KCNF1 0 1 0 0 0 0 0 1
KCNK9 0 0 0 0 0 1 0 1
KCNS3 0 0 0 0 0 1 0 1
KDM6A 0 1 0 0 0 0 0 1
KIF4A 0 1 0 0 0 0 0 1
KIRREL3 0 0 0 0 0 1 0 1
KMT2A 0 1 0 0 0 0 0 1
KMT2B 0 1 0 0 0 0 0 1
KMT5B 0 1 0 0 0 0 0 1
KRT14 0 1 0 0 0 0 0 1
L1CAM 0 1 0 0 0 0 0 1
LAMB1 0 0 0 0 0 1 0 1
LARP4B 0 0 0 0 0 1 0 1
LMBR1 0 1 0 0 0 0 0 1
LMX1A 0 1 0 0 0 0 0 1
LOC105375751 0 0 0 0 0 1 0 1
LOC111982863, SLC25A16 1 1 0 0 0 0 0 1
LOC122152296, USH2A 0 0 1 0 0 0 0 1
LOC123956210, SLC26A4 0 1 0 0 0 0 0 1
LOC126805688, YARS1 0 1 0 0 0 0 0 1
LOC126806462, SATB2 0 1 0 0 0 0 0 1
LOC126860970, POLR3A 0 1 0 0 0 0 0 1
LOC126860971, POLR3A 0 1 0 0 0 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 1 0 0 0 0 0 1
LOC127814297, POU4F3 0 1 0 0 0 0 0 1
LOC129929200, TP73 0 0 1 0 0 0 0 1
LOC129931468, LORICRIN 0 1 0 0 0 0 0 1
LOC130006029, LTBP3 0 0 0 0 0 0 1 1
LRP2 0 1 0 0 0 0 0 1
LZTR1 0 0 0 0 0 1 0 1
MANBA 0 1 0 0 0 0 0 1
MAP3K1 0 0 1 0 0 0 0 1
MAP3K11 0 1 0 0 0 0 0 1
MAST4 0 1 0 0 0 0 0 1
MBOAT7 0 1 0 0 0 0 0 1
MCM3AP 0 0 0 0 0 1 0 1
MED13L 0 1 0 0 0 0 0 1
MEF2C 0 1 0 0 0 0 0 1
MIR6501, SON 0 1 0 0 0 0 0 1
MLYCD 0 1 0 0 0 0 0 1
MMP10 0 0 1 0 0 0 0 1
MS4A14 0 0 1 0 0 0 0 1
MSRB3 0 1 0 0 0 0 0 1
MYH6 0 0 1 0 0 0 0 1
MYH9 0 0 1 0 0 0 0 1
MYL11 0 1 0 0 0 0 0 1
MYO6 0 0 1 0 0 0 0 1
MYPN 0 0 1 0 0 0 0 1
MYT1 0 0 0 0 0 1 0 1
NEXN 0 0 1 0 0 0 0 1
NF1 0 0 1 0 0 0 0 1
NR1D2 0 1 0 0 0 0 0 1
NR4A2 0 1 0 0 0 0 0 1
OPHN1 0 1 0 0 0 0 0 1
OR5K3 0 0 1 0 0 0 0 1
OR5K4 0 0 1 0 0 0 0 1
OR6C1 0 0 1 0 0 0 0 1
OTOG 0 1 0 0 0 0 0 1
PAFAH1B3 0 0 0 0 0 1 0 1
PCNX3 0 1 0 0 0 0 0 1
PDGFRB 0 1 0 0 0 0 0 1
PID1 0 1 0 0 0 0 0 1
PIK3CD 0 1 0 0 0 0 0 1
PKD1L3 0 0 1 0 0 0 0 1
PLCG1, TOP1 0 0 0 0 0 1 0 1
PLS1 0 0 1 0 0 0 0 1
PNKD, TMBIM1 0 1 0 0 0 0 0 1
PNPLA1 1 0 0 0 0 0 0 1
PNPLA4, PUDP, STS, VCX 0 1 0 0 0 0 0 1
PPOX 0 1 0 0 0 0 0 1
PPP1CB 0 1 0 0 0 0 0 1
PRNCR1 0 0 0 0 0 1 0 1
PRSS48, SH3D19 0 0 1 0 0 0 0 1
PTPRT 0 0 0 0 0 1 0 1
PUF60 0 1 0 0 0 0 0 1
QARS1 0 0 1 0 0 0 0 1
RELN, SLC26A5 0 1 0 0 0 0 0 1
RPS28 1 0 0 0 0 0 0 1
RPS6KA2 0 0 0 0 0 1 0 1
RRP8 0 0 0 0 0 1 0 1
SCEL 0 1 0 0 0 0 0 1
SDK1 0 0 0 0 0 1 0 1
SEMA6B 0 0 1 0 0 0 0 1
SKIC2 0 1 0 0 0 0 0 1
SLC24A1 0 1 0 0 0 0 0 1
SLC35C1 0 1 0 0 0 0 0 1
SLC37A4 0 1 0 0 0 0 0 1
SLC45A2 0 1 0 0 0 0 0 1
SLC52A2 0 1 0 0 0 0 0 1
SLC9A3 0 0 0 0 0 1 0 1
SLFN11 0 1 0 0 0 0 0 1
SLTM 0 1 0 0 0 0 0 1
SMARCAD1 0 0 1 0 0 0 0 1
SMC2 0 0 1 0 0 0 0 1
SMC3 0 1 0 0 0 0 0 1
SMG9 0 0 0 0 0 1 0 1
SORL1 0 1 0 0 0 0 0 1
SPG11 0 0 0 0 0 1 0 1
SPINK5 0 1 0 0 0 0 0 1
SPTAN1 0 1 0 0 0 0 0 1
SPTBN2 0 1 0 0 0 0 0 1
SRGAP3 0 1 0 0 0 0 0 1
SSR3 0 1 0 0 0 0 0 1
SSR4 1 0 0 0 0 0 0 1
ST14 0 1 0 0 0 0 0 1
STARD9 0 0 0 0 0 1 0 1
TAF1 0 1 0 0 0 0 0 1
TBC1D9 0 0 1 0 0 0 0 1
TBRG1 0 1 0 0 0 0 0 1
TCIRG1 1 0 0 0 0 0 0 1
TECPR1 0 1 0 0 0 0 0 1
TENM1 0 1 0 0 0 0 0 1
TGM1 1 0 0 0 0 0 0 1
TGM4 0 1 0 0 0 0 0 1
THBS1 0 0 0 0 0 1 0 1
TJP2 1 0 0 0 0 0 0 1
TMLHE 0 1 0 0 0 0 0 1
TNRC6B 0 0 0 0 0 1 0 1
TPRN 0 1 0 0 0 0 0 1
TRAPPC10 0 1 0 0 0 0 0 1
TRPV4 0 1 0 0 0 0 0 1
TSR2 1 0 0 0 0 0 0 1
TUB 0 0 0 0 0 1 0 1
TUBB 0 1 0 0 0 0 0 1
TUBB2A 0 1 0 0 0 0 0 1
TUBB3 0 1 0 0 0 0 0 1
TUSC3 0 1 0 0 0 0 0 1
TYRP1 0 1 0 0 0 0 0 1
UPF2 0 0 0 0 0 1 0 1
WDFY3 0 1 0 0 0 0 0 1
WDR37 0 1 0 0 0 0 0 1
WDR83 0 0 1 0 0 0 0 1
WHRN 0 1 0 0 0 0 0 1
XKR7 0 1 0 0 0 0 0 1
ZFHX3 0 1 0 0 0 0 0 1
ZNF418 0 1 0 0 0 0 0 1
ZNF528 0 1 0 0 0 0 0 1
ZSWIM6 1 0 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 169
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign association confers sensitivity total
Hearing loss, autosomal recessive 0 156 0 0 0 0 0 156
Jeune thoracic dystrophy 1 110 0 0 0 0 0 111
Asphyxiating thoracic dystrophy 3 0 82 0 0 0 0 0 82
Autism spectrum disorder 0 22 3 0 0 41 0 66
Neurodevelopmental disorder 0 48 16 0 0 0 0 64
Lissencephaly 0 46 12 0 0 0 0 58
Congenital disorder of glycosylation 0 52 0 0 0 0 0 52
Moyamoya angiopathy 0 35 1 0 0 0 0 36
Cleft lip with or without cleft palate 3 18 12 0 0 0 0 33
Congenital cerebellar hypoplasia 0 30 2 0 0 0 0 32
Nonsyndromic Oculocutaneous Albinism 0 32 0 0 0 0 0 32
Short-rib thoracic dysplasia 6 with or without polydactyly 0 31 0 0 0 0 0 31
Congenital aneurysm of ascending aorta; Acute aortic dissection 6 8 7 4 2 0 0 27
Intellectual disability 0 23 2 0 0 0 0 25
Primary dilated cardiomyopathy 0 2 21 0 0 0 0 23
CHARGE association 0 20 0 0 0 0 0 20
Familial aplasia of the vermis 0 18 1 0 0 0 0 19
Neurodevelopmental disorders 0 18 1 0 0 0 0 19
Syndromic neurodevelopmental disorder 0 19 0 0 0 0 0 19
ZTTK syndrome 0 17 0 0 0 0 0 17
Ehlers-Danlos syndrome, periodontal type 2 0 16 0 0 0 0 0 16
Otitis media 0 2 14 0 0 0 0 16
Essential tremor 0 5 10 0 0 0 0 15
Congenital contractures of the limbs and face, hypotonia, and developmental delay 14 0 0 0 0 0 0 14
Hearing impairment 0 6 8 0 0 0 0 14
ALG3-congenital disorder of glycosylation 10 3 0 0 0 0 0 13
Moyamoya angiopathy with developmental delay 0 13 0 0 0 0 0 13
Short rib-polydactyly syndrome 0 13 0 0 0 0 0 13
Wiedemann-Rautenstrauch-like progeroid syndrome 0 12 1 0 0 0 0 13
Dandy-Walker syndrome 0 11 1 0 0 0 0 12
Pontocerebellar hypoplasia type 7 0 12 0 0 0 0 0 12
Pulmonary fibrosis; Familial Interstitial Pneumonia 0 4 8 0 0 0 0 12
Sponastrime dysplasia 0 12 0 0 0 0 0 12
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 11 0 0 0 0 0 0 11
Nonsyndromic cleft lip palate 1 10 0 0 0 0 0 11
Type IV short rib polydactyly syndrome 0 11 0 0 0 0 0 11
Familial Otitis Media 0 0 0 0 0 0 10 10
MN1 C-terminal truncation (MCTT) syndrome 0 10 0 0 0 0 0 10
Neonatal pseudo-hydrocephalic progeroid syndrome 0 10 0 0 0 0 0 10
Scalp-ear-nipple syndrome 10 0 0 0 0 0 0 10
TET3 deficiency 0 9 1 0 0 0 0 10
Abnormal facial shape; Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Postnatal growth retardation; Neurodevelopmental abnormality 0 9 0 0 0 0 0 9
Interstitial lung disease 2 9 0 0 0 0 0 0 9
Posterior Predominant Lissencephaly 0 9 0 0 0 0 0 9
Seizure; Hypotonia; Neurodevelopmental Disability 0 9 0 0 0 0 0 9
Familial Autism Spectrum Disorder 0 7 0 1 0 0 0 8
Familial prostate carcinoma 0 0 0 0 0 8 0 8
Distal arthrogryposis type 5D 7 0 0 0 0 0 0 7
Hypoplastic left heart syndrome 0 3 4 0 0 0 0 7
Immunodeficiency 11b with atopic dermatitis 0 7 0 0 0 0 0 7
Opsismodysplasia 7 0 0 0 0 0 0 7
Thoracic aortic aneurysm 0 7 0 0 0 0 0 7
Auriculocondylar syndrome 1 6 0 0 0 0 0 0 6
Heart, malformation of; Abnormality of the genitourinary system; Congenital diaphragmatic hernia 0 6 0 0 0 0 0 6
Hermansky-Pudlak syndrome 0 6 0 0 0 0 0 6
Optic atrophy; Childhood Onset Dystonias 0 6 0 0 0 0 0 6
Skeletal dysplaisia with extra-skeletal manifestations 0 6 0 0 0 0 0 6
Skin and Hair Hypopigmentation 0 6 0 0 0 0 0 6
Attention deficit hyperactivity disorder 0 0 5 0 0 0 0 5
Ellis-van Creveld syndrome 0 5 0 0 0 0 0 5
Nongoitrous Euthyroid Hyperthyrotropinemia 0 5 0 0 0 0 0 5
lissencephaly with brainstem hypoplasia 0 5 0 0 0 0 0 5
Camptomelic dysplasia 0 4 0 0 0 0 0 4
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 4 0 0 0 0 0 0 4
Distal arthrogryposis 0 4 0 0 0 0 0 4
Hutchinson-Gilford syndrome 0 2 2 0 0 0 0 4
Ichthyosis 4 0 0 0 0 0 0 4
Intellectual disability; Developmental delay; Mild facial and digital morphological abnormalities 0 4 0 0 0 0 0 4
Rubinstein Taybi like syndrome 0 4 0 0 0 0 0 4
complex microphthalmia 0 4 0 0 0 0 0 4
not provided 0 4 0 0 0 0 0 4
Aortic aneurysm 0 0 0 0 0 3 0 3
Childhood apraxia of speech 0 2 1 0 0 0 0 3
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 3 0 0 0 0 0 0 3
Heart, malformation of; Abnormality of the genitourinary system 0 3 0 0 0 0 0 3
Heritable Thoracic Aortic Disease 0 0 0 0 0 0 3 3
Lethal arthrogryposis-anterior horn cell disease syndrome 0 3 0 0 0 0 0 3
Moyamoya disease 1 3 0 0 0 0 0 0 3
Non-Syndromic Hereditary Hearing Impairment 0 2 0 1 0 0 0 3
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 3 0 0 0 0 0 0 3
SLC35A2-congenital disorder of glycosylation 3 0 0 0 0 0 0 3
Spondylocarpotarsal synostosis syndrome 0 3 0 0 0 0 0 3
Syndromic Infantile Encephalopathy 0 3 0 0 0 0 0 3
Van den Ende-Gupta syndrome 3 0 0 0 0 0 0 3
Ataxia-pancytopenia syndrome 0 2 0 0 0 0 0 2
Autosomal recessive nonsyndromic postaxial polydactyly 0 2 0 0 0 0 0 2
Blepharocheilodontic syndrome 1 0 0 2 0 0 0 0 2
Cerebellar vermis hypoplasia 0 0 2 0 0 0 0 2
Chronic intestinal pseudoobstruction 2 0 0 0 0 0 0 2
Cleft lip/palate 0 0 2 0 0 0 0 2
Combined oxidative phosphorylation deficiency 0 2 0 0 0 0 0 2
Developmental delay 0 2 0 0 0 0 0 2
Early age onset of sporadic thoracic aortic dissections 0 0 2 0 0 0 0 2
Encephalocraniocutaneous lipomatosis 0 2 0 0 0 0 0 2
Fanconi anemia complementation group A 2 0 0 0 0 0 0 2
Fanconi anemia, complementation group S 0 2 0 0 0 0 0 2
GET4 deficiency 0 2 0 0 0 0 0 2
Gordon syndrome 2 0 0 0 0 0 0 2
Grange syndrome 2 0 0 0 0 0 0 2
Intellectual disability, autosomal dominant 13 2 0 0 0 0 0 0 2
Intellectual disability, autosomal recessive 5 0 2 0 0 0 0 0 2
Isolated hand syndactyly 0 2 0 0 0 0 0 2
Isolated neonatal sclerosing cholangitis 2 0 0 0 0 0 0 2
Moyamoya disease 0 2 0 0 0 0 0 2
Orofacial cleft 0 2 0 0 0 0 0 2
Orofaciodigital syndrome 0 2 0 0 0 0 0 2
SLC35A1-congenital disorder of glycosylation 0 2 0 0 0 0 0 2
Sinoatrial node dysfunction and deafness 0 2 0 0 0 0 0 2
Sjögren-Larsson syndrome 0 2 0 0 0 0 0 2
distinct bent bone dysplasia 0 2 0 0 0 0 0 2
ARID1A duplication associated intellectual disability syndrome 0 1 0 0 0 0 0 1
Acheiropodia 0 1 0 0 0 0 0 1
Acromelic frontonasal dysostosis 1 0 0 0 0 0 0 1
Acromesomelic dysplasia 2C, Hunter-Thompson type 0 1 0 0 0 0 0 1
Autosomal dominant nonsyndromic hearing impairment 0 0 1 0 0 0 0 1
Autosomal recessive Stickler syndrome 0 1 0 0 0 0 0 1
Autosomal recessive congenital ichthyosis 11 0 1 0 0 0 0 0 1
Autosomal recessive retinitis pigmentosa 0 1 0 0 0 0 0 1
Autosomal-Recessive Hereditary Hearing Impairment 0 1 0 0 0 0 0 1
Brown-Vialetto-van Laere syndrome 2 0 1 0 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 4 1 0 0 0 0 0 0 1
Coffin-Siris syndrome 1 0 1 0 0 0 0 0 1
Cohen syndrome 0 1 0 0 0 0 0 1
Congenital generalized lipodystrophy type 3 1 0 0 0 0 0 0 1
Congenital generalized lipodystrophy type 3; Pulmonary hypertension, primary, 3 1 0 0 0 0 0 0 1
Congenital heart defects and skeletal malformations syndrome 1 0 0 0 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 0 0 1
Corpus callosum, agenesis of; Retinal degeneration; Primary amenorrhea; Hepatic steatosis; Severe hearing impairment 0 1 0 0 0 0 0 1
Dystonic disorder 0 1 0 0 0 0 0 1
Epidermolysis bullosa dystrophica 0 1 0 0 0 0 0 1
Epilepsy 0 1 0 0 0 0 0 1
Epilepsy; Developmental delay 0 1 0 0 0 0 0 1
Familial atrioventricular septal defect 0 1 0 0 0 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 0 0 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 0 1 0 0 0 0 0 1
Harel-Yoon syndrome 1 0 0 0 0 0 0 1
Heme oxygenase 1 deficiency 0 1 0 0 0 0 0 1
Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia 0 1 0 0 0 0 0 1
Ichthyosis vulgaris 0 1 0 0 0 0 0 1
Inherited isolated nail anomaly 1 0 0 0 0 0 0 1
Intellectual Disability with multiple congenital anomalies 0 1 0 0 0 0 0 1
Intellectual disability, X-linked, syndromic 33 0 1 0 0 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 0 0 0 1
Intellectual disability; Developmental delay 0 1 0 0 0 0 0 1
Keloid formation 0 1 0 0 0 0 0 1
Kindler syndrome 0 1 0 0 0 0 0 1
Lamellar ichthyosis 0 1 0 0 0 0 0 1
Leukocyte adhesion deficiency type II 0 1 0 0 0 0 0 1
Marden-Walker syndrome 1 0 0 0 0 0 0 1
Menke-Hennekam syndrome 1 0 1 0 0 0 0 0 1
Metatropic dysplasia 0 1 0 0 0 0 0 1
Mohr syndrome 0 1 0 0 0 0 0 1
Multiple epiphyseal dysplasia 0 1 0 0 0 0 0 1
Nephronophthisis; Growth delay 0 1 0 0 0 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 1 0 0 0 0 0 0 1
Osteogenesis imperfecta 0 1 0 0 0 0 0 1
Otitis media, susceptibility to 0 1 0 0 0 0 0 1
Postaxial polydactyly type A 0 1 0 0 0 0 0 1
Presynaptic congenital myasthenic syndrome 0 1 0 0 0 0 0 1
Primary ciliary dyskinesia 0 1 0 0 0 0 0 1
SSR4-congenital disorder of glycosylation 1 0 0 0 0 0 0 1
Schizophrenia 0 0 1 0 0 0 0 1
Trichohepatoenteric syndrome 2 0 1 0 0 0 0 0 1
Triglyceride storage disease with ichthyosis 0 1 0 0 0 0 0 1
Variegate porphyria 0 1 0 0 0 0 0 1
X-linked deletion syndrome 0 1 0 0 0 0 0 1
Xeroderma pigmentosum 0 1 0 0 0 0 0 1
autosomal recessive isolated fingernail dysplasia 0 1 0 0 0 0 0 1
interferonopathy 0 1 0 0 0 0 0 1

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