ClinVar Miner

Variants from Gharavi Laboratory, Columbia University

Location: United States  Primary collection method: research
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
210 278 1188 11 1 1688

Gene and significance breakdown #

Total genes and gene combinations: 537
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 45 25 14 1 0 85
COL4A5 15 18 8 0 0 41
COL4A3, MFF-DT 3 28 4 0 0 35
COL4A4 10 16 1 0 0 27
CACNA1S 0 0 22 0 0 22
PAX2 8 9 0 0 0 17
HNF1B 6 7 2 1 0 16
PKD2 11 2 3 0 0 16
PKHD1 1 4 8 0 0 13
NPHP4 4 3 5 0 0 12
SI 0 0 12 0 0 12
SLC12A3 3 8 1 0 0 12
TRPC6 2 5 4 1 0 12
ARID1B 0 0 10 0 0 10
CAD 0 0 10 0 0 10
EYA1 3 6 1 0 0 10
INF2 1 5 4 0 0 10
KMT2D 0 3 7 0 0 10
NF1 1 1 8 0 0 10
NPHP3, NPHP3-ACAD11 1 3 6 0 0 10
TSC2 0 1 9 0 0 10
CHD7 0 2 7 0 0 9
GREB1L 0 9 0 0 0 9
LRP2 0 0 9 0 0 9
SALL1 1 3 5 0 0 9
SETBP1 0 0 9 0 0 9
TMEM67 0 0 9 0 0 9
BRCA2 8 0 0 0 0 8
CPLANE1 0 2 6 0 0 8
GLA, RPL36A-HNRNPH2 2 1 4 1 0 8
LRIG2 0 2 6 0 0 8
NPHS1 1 2 5 0 0 8
TTC21B 2 0 6 0 0 8
UMOD 0 7 1 0 0 8
WFS1 0 2 6 0 0 8
ACE 0 0 7 0 0 7
ANOS1 0 5 1 1 0 7
APC2 0 0 7 0 0 7
COL4A1 0 0 7 0 0 7
CUBN 0 0 7 0 0 7
DYNC2H1 0 0 7 0 0 7
FLNA 0 0 7 0 0 7
FRAS1 2 2 3 0 0 7
HNF1A 4 2 1 0 0 7
HSPG2 0 0 7 0 0 7
MYH9 0 1 6 0 0 7
NOTCH3 0 0 7 0 0 7
RERE 0 1 6 0 0 7
SCN4A 0 0 7 0 0 7
ATP7B 0 0 6 0 0 6
CEP290 0 0 6 0 0 6
CFH 0 0 6 0 0 6
CFHR5 0 0 6 0 0 6
COL18A1 0 0 6 0 0 6
CRB2 1 0 5 0 0 6
CREBBP 0 2 4 0 0 6
DHCR7 2 4 0 0 0 6
FANCM 0 0 6 0 0 6
FLNB 0 0 6 0 0 6
GH-LCR, SCN4A 0 0 6 0 0 6
MMUT 0 0 6 0 0 6
NOTCH2 1 1 4 0 0 6
PNPLA6 0 0 6 0 0 6
PYGM 0 0 6 0 0 6
RPGRIP1L 0 0 6 0 0 6
SLC3A1 0 3 3 0 0 6
SLC5A2 0 0 6 0 0 6
SLC7A9 0 3 3 0 0 6
STK11 0 0 6 0 0 6
WDR19 1 1 4 0 0 6
ALG8 0 2 3 0 0 5
ALMS1 0 0 5 0 0 5
ALPL 0 0 5 0 0 5
CENPF 0 0 5 0 0 5
CPT2 1 0 4 0 0 5
ETFDH 0 0 5 0 0 5
FREM2 0 0 5 0 0 5
GATA3 1 1 3 0 0 5
GATA6 0 0 5 0 0 5
HOXA13, LOC107126288 0 0 5 0 0 5
HOXD13 0 1 4 0 0 5
INPP5E 0 0 5 0 0 5
INVS 0 2 3 0 0 5
ITGA8 3 0 2 0 0 5
JAG1 0 3 2 0 0 5
KIF7 0 0 5 0 0 5
MKKS 0 2 2 1 0 5
PLCE1 0 1 4 0 0 5
SLC26A4 0 0 5 0 0 5
ARID1A 0 0 4 0 0 4
ARMC5 0 0 4 0 0 4
ATP6V1B1 2 0 2 0 0 4
AXDND1, NPHS2 3 0 1 0 0 4
BBS1, ZDHHC24 1 0 3 0 0 4
BMP4 0 1 3 0 0 4
CDKN1C 0 2 2 0 0 4
DSTYK 0 2 2 0 0 4
EVC2 0 0 4 0 0 4
FGFR2 0 2 2 0 0 4
FOXC1 0 0 4 0 0 4
FUZ 0 0 4 0 0 4
HSD17B4 0 0 4 0 0 4
ITGB4 0 0 4 0 0 4
KANK1 0 0 4 0 0 4
KAT6B 2 0 2 0 0 4
KIF14 0 0 4 0 0 4
PC 0 0 4 0 0 4
PIGN 0 0 4 0 0 4
RIN2 0 0 4 0 0 4
RMND1 2 0 2 0 0 4
ROBO2 0 1 3 0 0 4
SCARB2 0 0 4 0 0 4
SDHB 0 0 4 0 0 4
SLC1A1 0 0 4 0 0 4
SLC4A1 1 0 3 0 0 4
SLC6A19 0 0 4 0 0 4
SLIT2 0 0 4 0 0 4
SLX4 0 0 4 0 0 4
STRA6 0 0 4 0 0 4
TBX18 0 2 2 0 0 4
TCTN3 0 0 4 0 0 4
TRAP1 0 0 4 0 0 4
UMPS 0 0 2 2 0 4
UPB1 0 0 4 0 0 4
VANGL1 0 0 4 0 0 4
VPS33B 0 0 4 0 0 4
WNK1 0 0 4 0 0 4
ZMYM2 1 3 0 0 0 4
ABCD4 0 0 3 0 0 3
ADA2 0 0 3 0 0 3
ADAMTS13 0 0 3 0 0 3
AGPAT2 0 0 3 0 0 3
AHI1 0 0 3 0 0 3
ANKS6 0 0 3 0 0 3
ARFGEF1, CSPP1 0 0 3 0 0 3
ARID1B, LOC115308161 0 0 3 0 0 3
ASXL1 0 0 3 0 0 3
ATP6V0A4 0 0 3 0 0 3
BBS1 2 0 1 0 0 3
BBS9 2 0 1 0 0 3
BCOR 0 0 3 0 0 3
CASP10 0 0 3 0 0 3
CASR 0 2 1 0 0 3
CC2D2A, FBXL5 0 0 3 0 0 3
CD96 0 2 1 0 0 3
CDKN1B 0 0 3 0 0 3
CEP164 0 0 3 0 0 3
CEP41 0 0 3 0 0 3
CLCN5 2 0 1 0 0 3
CLCN5, LOC126863258 1 1 1 0 0 3
CLCNKA, LOC106501712 0 0 3 0 0 3
CLCNKB, LOC106501713 0 0 3 0 0 3
COL5A1, LOC101448202 0 0 3 0 0 3
CPT1A 0 0 3 0 0 3
CTNS 0 0 3 0 0 3
DCHS1 0 0 3 0 0 3
DIS3L2 0 0 3 0 0 3
DLL3 0 0 3 0 0 3
DM1, LOC107075317, SIX5 0 1 2 0 0 3
DYNC2I1 0 0 3 0 0 3
EHHADH 0 0 3 0 0 3
ERCC4 0 0 3 0 0 3
ERCC6 0 0 3 0 0 3
ETFB 0 0 3 0 0 3
EVC 0 0 3 0 0 3
FAM20C 0 0 3 0 0 3
FANCA 0 0 3 0 0 3
FANCI 0 0 3 0 0 3
FGA 0 0 3 0 0 3
FREM1 0 0 3 0 0 3
GCDH 0 0 3 0 0 3
GRHPR 0 0 3 0 0 3
GRIP1 0 0 3 0 0 3
INPPL1 0 0 3 0 0 3
INSR 0 0 3 0 0 3
ITGA6, PDK1 0 0 3 0 0 3
KCNJ1 0 0 3 0 0 3
KCNQ1 3 0 0 0 0 3
LAMB3 0 0 3 0 0 3
LFNG 0 0 3 0 0 3
LONP1 0 0 3 0 0 3
LRP4 0 0 3 0 0 3
MUC1 0 1 2 0 0 3
MYBPC3 3 0 0 0 0 3
NLRP3 0 0 3 0 0 3
NPHS2 3 0 0 0 0 3
NR0B1 0 0 3 0 0 3
NUP107 0 0 3 0 0 3
OCLN 0 0 3 0 0 3
PALB2 0 0 3 0 0 3
PEX6 0 0 3 0 0 3
PGK1 0 0 3 0 0 3
PHGDH 0 0 3 0 0 3
PKP2 3 0 0 0 0 3
PTEN 0 0 3 0 0 3
RAI1 0 0 3 0 0 3
REN 0 2 1 0 0 3
RPS24 0 0 3 0 0 3
RTTN 0 0 3 0 0 3
SCNN1A 0 0 3 0 0 3
SCO1 0 0 3 0 0 3
SERPINH1 0 0 3 0 0 3
SKIC3 0 0 3 0 0 3
SLC16A12 0 1 2 0 0 3
SLC34A3 0 1 2 0 0 3
SLC4A4 0 0 3 0 0 3
SMARCAL1 1 1 1 0 0 3
SOX17 0 0 3 0 0 3
SPECC1L, SPECC1L-ADORA2A 0 0 3 0 0 3
TRAF3IP1 0 0 3 0 0 3
TRPM6 0 0 3 0 0 3
TRRAP 0 3 0 0 0 3
UPK3A 0 0 3 0 0 3
WDPCP 0 0 3 0 0 3
WDR35 0 0 3 0 0 3
ABCC6 0 0 2 0 0 2
ACTA2 0 0 2 0 0 2
ACTG2 1 0 1 0 0 2
ACTN4 0 0 2 0 0 2
AFF4 0 0 2 0 0 2
AGT 0 0 2 0 0 2
AMN 0 0 2 0 0 2
ANLN 0 0 2 0 0 2
APOA1 1 0 1 0 0 2
ARX 0 0 2 0 0 2
ARX, LOC109610631 0 0 2 0 0 2
AVP 1 0 1 0 0 2
BBS10 1 0 1 0 0 2
BBS2 0 0 2 0 0 2
BBS5 0 0 2 0 0 2
BUB1B 0 0 2 0 0 2
C2 0 0 2 0 0 2
C3 0 0 2 0 0 2
CAD, LOC126806171 0 0 2 0 0 2
COL5A1 0 0 2 0 0 2
COQ2, LOC112997540 0 0 2 0 0 2
CSPP1 0 0 2 0 0 2
CYP24A1 0 0 2 0 0 2
DLL4 0 0 2 0 0 2
DLX4 0 0 2 0 0 2
EGF 0 0 2 0 0 2
EIF2B4, GTF3C2 0 0 2 0 0 2
EMP2 0 0 2 0 0 2
EPG5 0 0 2 0 0 2
FANCB 1 0 1 0 0 2
FANCE 0 0 2 0 0 2
FANCL 0 0 2 0 0 2
FAT4 0 0 2 0 0 2
FGFR1 0 0 2 0 0 2
FGFR3 0 0 2 0 0 2
FOXC2 0 0 2 0 0 2
G6PC1 0 0 2 0 0 2
GALK1, ITGB4 0 0 2 0 0 2
GATAD1, PEX1 0 0 2 0 0 2
GDF2 0 0 2 0 0 2
GLB1 0 0 2 0 0 2
GLI3 0 0 1 1 0 2
GNA11 0 0 2 0 0 2
GNAS 0 1 1 0 0 2
GNAS, LOC130066268 0 0 2 0 0 2
GSN 0 0 2 0 0 2
HDAC8 0 1 1 0 0 2
HGD 0 0 2 0 0 2
HNF1B, LOC126862549 1 0 1 0 0 2
HNF4A 0 1 1 0 0 2
HOGA1 0 0 2 0 0 2
HSD17B3, SLC35D2-HSD17B3 0 0 2 0 0 2
IDUA, SLC26A1 1 1 0 0 0 2
IFT122 0 0 2 0 0 2
IFT140 0 0 2 0 0 2
IFT140, LOC105371046 0 0 2 0 0 2
IFT172 0 0 2 0 0 2
IQCB1 2 0 0 0 0 2
KANK4 0 0 2 0 0 2
KDM1A 0 0 2 0 0 2
KRAS 1 0 1 0 0 2
LAMC2 0 0 2 0 0 2
LARS1 0 0 2 0 0 2
LDHA 0 0 2 0 0 2
LMNA 1 0 1 0 0 2
LMX1B 1 1 0 0 0 2
LOC106780803, TNXB 0 0 2 0 0 2
LOC126862123, SLC12A1 0 0 2 0 0 2
LOC129992813, PKD2 2 0 0 0 0 2
LOC129999736, MNX1 0 0 2 0 0 2
LOC130063979, PIK3R2 0 0 2 0 0 2
LPIN1 0 0 2 0 0 2
MLH1 0 0 2 0 0 2
MSH6 2 0 0 0 0 2
MYO1E 0 0 2 0 0 2
NEK1 0 0 2 0 0 2
NIPBL 0 0 2 0 0 2
NSD1 0 0 2 0 0 2
NUP205 0 0 2 0 0 2
OFD1 0 1 1 0 0 2
PEX1 0 0 2 0 0 2
PGM3 0 0 2 0 0 2
PMS2 1 1 0 0 0 2
POMT1 0 0 2 0 0 2
PPP1R15B 0 0 2 0 0 2
PRODH 0 0 2 0 0 2
PTPN11 1 0 1 0 0 2
PUF60 0 0 2 0 0 2
RAB3GAP1 0 0 2 0 0 2
RAB3GAP2 0 0 2 0 0 2
RET 0 0 2 0 0 2
ROR2 0 0 2 0 0 2
SALL4 0 1 1 0 0 2
SCN5A 1 1 0 0 0 2
SIX2 0 0 2 0 0 2
SLC12A1 0 0 2 0 0 2
SLC34A1 0 0 2 0 0 2
SLC7A7 0 0 2 0 0 2
SMAD3 0 0 2 0 0 2
SMARCE1 0 0 2 0 0 2
SRCAP 0 0 2 0 0 2
STRADA 0 0 2 0 0 2
TBC1D24 0 0 2 0 0 2
TRAIP 0 0 2 0 0 2
TSC1 0 0 1 0 1 2
VHL 0 0 1 1 0 2
WBP11 0 2 0 0 0 2
WNK4 0 0 2 0 0 2
WNT7A 0 0 2 0 0 2
WT1 0 1 1 0 0 2
XDH 0 0 2 0 0 2
ZAP70 0 0 2 0 0 2
ACTB 0 0 1 0 0 1
ACVRL1 0 0 1 0 0 1
AGTR1 0 0 1 0 0 1
AMN, LOC130056554 0 0 1 0 0 1
AOPEP, FANCC 0 0 1 0 0 1
AQP2 0 0 1 0 0 1
AQP2, AQP5 0 0 1 0 0 1
ASTN2, TRIM32 0 0 1 0 0 1
ATP7A 0 0 1 0 0 1
BBIP1 0 0 1 0 0 1
BBS12 0 0 1 0 0 1
BBS4 0 0 1 0 0 1
BBS7 1 0 0 0 0 1
BCOR, LOC126863239 0 0 1 0 0 1
BCS1L 0 0 1 0 0 1
BRAF 0 0 1 0 0 1
BRIP1 0 0 1 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 0 1 0 0 1
BSND 0 0 1 0 0 1
BUB1B, BUB1B-PAK6 0 0 1 0 0 1
C1QA 0 0 1 0 0 1
C4A 0 0 1 0 0 1
CA2 0 0 1 0 0 1
CACNA1S, LOC101929305 0 0 1 0 0 1
CACNG2-DT, IFT27, LOC126863139 0 0 1 0 0 1
CC2D2A 0 0 1 0 0 1
CDC5L, POLR1C 0 0 1 0 0 1
CDC73 0 1 0 0 0 1
CENPF, LOC126806006 0 0 1 0 0 1
CEP104 0 0 1 0 0 1
CEP120 0 0 1 0 0 1
CFI 0 0 1 0 0 1
CHD7, LOC126860403 0 0 1 0 0 1
CLCNKA 0 0 1 0 0 1
CLDN16 0 0 1 0 0 1
CLDN19 0 0 1 0 0 1
CNNM2 0 0 1 0 0 1
COA8 0 0 1 0 0 1
COL11A1 0 1 0 0 0 1
COL18A1, SLC19A1 0 0 1 0 0 1
COQ6 0 0 1 0 0 1
COQ9, LOC112469007 0 0 1 0 0 1
COX20 0 0 1 0 0 1
COX20, LOC129932912 0 0 1 0 0 1
CTC1 0 0 1 0 0 1
CUL3 0 0 1 0 0 1
DACT1 0 1 0 0 0 1
DCDC2 0 0 1 0 0 1
DDX59 0 0 1 0 0 1
DIPK1A, RPL5 0 0 1 0 0 1
DLG3 0 0 1 0 0 1
DLL3, LOC130064417 0 0 1 0 0 1
DNAAF1 0 0 1 0 0 1
DNAJB11 0 1 0 0 0 1
DNASE1, TRAP1 0 0 1 0 0 1
DNASE1L3 0 0 1 0 0 1
DNMT3B 0 0 1 0 0 1
DSP 1 0 0 0 0 1
DYNC2I2 0 0 1 0 0 1
DYRK1A 0 1 0 0 0 1
EBP 0 0 1 0 0 1
EFEMP2 0 0 1 0 0 1
EIF2AK3 0 0 1 0 0 1
EIF2B4 0 0 1 0 0 1
ENG 0 0 1 0 0 1
ENPP1 0 0 1 0 0 1
EP300 0 1 0 0 0 1
ERBB3 0 0 1 0 0 1
ERCC6, LOC126860933 0 0 1 0 0 1
ESCO2 0 0 1 0 0 1
FAH 0 0 1 0 0 1
FAM20A, PRKAR1A 0 0 1 0 0 1
FAN1 0 0 1 0 0 1
FAN1, MTMR10 0 0 1 0 0 1
FANCA, ZNF276 0 0 1 0 0 1
FANCC 0 0 1 0 0 1
FANCD2, LOC107303338 0 0 1 0 0 1
FANCF 0 0 1 0 0 1
FANCF, LOC130005444 0 0 1 0 0 1
FBLN5 0 0 1 0 0 1
FGF20, LOC129999926 0 0 1 0 0 1
FKBP14 0 0 1 0 0 1
FLCN 1 0 0 0 0 1
FN1, FN1-DT 0 0 1 0 0 1
FUZ, LOC105372435 0 0 1 0 0 1
FUZ, LOC105372435, LOC130064942 0 0 1 0 0 1
GALNT3 0 0 1 0 0 1
GCM2 0 0 1 0 0 1
GLIS2 0 0 1 0 0 1
GPC3 0 0 1 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 1
HES7, LOC130060203 0 0 1 0 0 1
HOXA13 0 0 1 0 0 1
HPS1 0 0 1 0 0 1
HPSE2 0 0 1 0 0 1
IFI30 0 0 1 0 0 1
IFT27 0 0 1 0 0 1
ITGA3 0 0 1 0 0 1
KANK1, LOC126860554 0 0 1 0 0 1
KANSL1 0 1 0 0 0 1
KCNA1 0 0 1 0 0 1
KCNH1 0 0 1 0 0 1
KDM6A 0 0 1 0 0 1
KIF7, LOC126862216 0 0 1 0 0 1
KIRREL2, NPHS1 1 0 0 0 0 1
KL 0 0 1 0 0 1
KLHL3 0 1 0 0 0 1
LAMB2 0 0 1 0 0 1
LDLR 1 0 0 0 0 1
LOC107982234, WT1 0 0 1 0 0 1
LOC112272600, MYO1E 0 0 1 0 0 1
LOC126859690, PKHD1 0 1 0 0 0 1
LOC126860075, POR 0 0 1 0 0 1
LOC126861898, MYH7 1 0 0 0 0 1
LOC126862568, WNK4 0 0 1 0 0 1
LOC126863137, MYH9 0 0 1 0 0 1
LOC130066420, SOX18 0 0 1 0 0 1
LTBR, SCNN1A 0 0 1 0 0 1
MAFB 0 0 1 0 0 1
MAP2K1 0 0 1 0 0 1
MAP2K2 0 0 1 0 0 1
MBTPS2 0 0 1 0 0 1
MC4R 0 1 0 0 0 1
MEFV 0 0 1 0 0 1
MESP2 0 0 1 0 0 1
MIR1225, PKD1 0 1 0 0 0 1
MMACHC 0 0 1 0 0 1
MNX1 0 1 0 0 0 1
MRPS22 0 0 1 0 0 1
MSH2 1 0 0 0 0 1
MVK 0 0 1 0 0 1
MYCN, MYCNOS 0 1 0 0 0 1
MYH7 1 0 0 0 0 1
NARS2 0 0 1 0 0 1
NEK8 0 0 1 0 0 1
NHERF1, SLC9A3R1 0 0 1 0 0 1
NPHP1 1 0 0 0 0 1
NR3C2 0 0 1 0 0 1
NSDHL 0 0 1 0 0 1
OCRL 0 1 0 0 0 1
PAF1 0 0 1 0 0 1
PBX1 1 0 0 0 0 1
PDSS1 0 0 1 0 0 1
PDSS2 0 0 1 0 0 1
PEX12 0 0 1 0 0 1
PEX13, PUS10 0 0 1 0 0 1
PEX14 0 0 1 0 0 1
PEX26 0 0 1 0 0 1
PEX3 0 0 1 0 0 1
PEX5 0 0 1 0 0 1
PIGT 0 0 1 0 0 1
PIK3CA 0 0 1 0 0 1
PITX2 0 0 1 0 0 1
PLOD1 0 0 1 0 0 1
POMC 0 0 1 0 0 1
POR 0 0 1 0 0 1
PREPL, SLC3A1 0 1 0 0 0 1
PRKCD 0 0 1 0 0 1
PRKCSH 0 1 0 0 0 1
PROKR2 0 0 1 0 0 1
PSMD12 0 1 0 0 0 1
PTH1R 0 0 1 0 0 1
PTPRO 0 0 1 0 0 1
RAD21 0 1 0 0 0 1
RBBP8 0 0 1 0 0 1
RIPK4 0 0 1 0 0 1
RIPPLY2, RIPPLY2-CYB5R4 0 0 1 0 0 1
RPS26 0 0 1 0 0 1
RUVBL1, SEC61A1 0 1 0 0 0 1
RYR1 1 0 0 0 0 1
SARS2 0 0 1 0 0 1
SC5D 0 0 1 0 0 1
SDCCAG8 0 0 1 0 0 1
SDHC 0 1 0 0 0 1
SDHD 0 1 0 0 0 1
SEC63 0 1 0 0 0 1
SIX1 0 0 0 1 0 1
SLC22A12 0 0 1 0 0 1
SLC25A1 0 0 1 0 0 1
SLC2A9 0 0 1 0 0 1
SLC6A20 0 0 1 0 0 1
SMC1A 0 1 0 0 0 1
SON 1 0 0 0 0 1
SOX11 0 0 1 0 0 1
SOX18 0 0 1 0 0 1
SOX9 0 0 1 0 0 1
SUCLA2 0 0 1 0 0 1
TBCE 0 0 1 0 0 1
TFAP2A 0 1 0 0 0 1
TMCO1 0 0 1 0 0 1
TMEM216 0 0 1 0 0 1
TNFRSF1A 0 0 1 0 0 1
TNNT2 0 1 0 0 0 1
TP53 0 1 0 0 0 1
TP63 1 0 0 0 0 1
TRMT5 0 0 1 0 0 1
TRNT1 0 0 1 0 0 1
TTC8 0 0 1 0 0 1
TTR 1 0 0 0 0 1
TXNL4A 0 0 1 0 0 1
UBR1 0 0 1 0 0 1
WNT4 0 0 1 0 0 1
XPNPEP3 0 0 1 0 0 1
XRCC4 0 0 1 0 0 1
XYLT2 0 0 1 0 0 1
YAP1 0 0 1 0 0 1
ZEB2 0 1 0 0 0 1
ZMPSTE24 0 0 1 0 0 1
ZNF423 0 0 1 0 0 1
ZNF687 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 59
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 164 190 1188 11 1 1554
Renal coloboma syndrome 8 5 0 0 0 13
Renal cysts and diabetes syndrome 7 6 0 0 0 13
Renal hypodysplasia/aplasia 3 0 9 0 0 0 9
Melnick-Fraser syndrome 1 4 0 0 0 5
Fraser syndrome 1 2 2 0 0 0 4
Hypogonadotropic hypogonadism 1 with or without anosmia 0 4 0 0 0 4
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 1 3 0 0 0 4
Polycystic kidney disease, adult type 2 2 0 0 0 4
Arteriohepatic dysplasia 0 3 0 0 0 3
Bardet-Biedl syndrome 1 3 0 0 0 0 3
Developmental delay with or without dysmorphic facies and autism 0 3 0 0 0 3
Kabuki syndrome 1 0 3 0 0 0 3
Nephronophthisis 4 3 0 0 0 0 3
Renal hypodysplasia/aplasia 1 3 0 0 0 0 3
Townes-Brocks syndrome 1 1 2 0 0 0 3
Alagille syndrome due to a NOTCH2 point mutation 1 1 0 0 0 2
Autosomal recessive polycystic kidney disease 0 2 0 0 0 2
Bardet-Biedl syndrome 9 2 0 0 0 0 2
Blepharophimosis - intellectual disability syndrome, SBBYS type 2 0 0 0 0 2
C syndrome 0 2 0 0 0 2
CHARGE syndrome 0 2 0 0 0 2
Combined oxidative phosphorylation defect type 11 2 0 0 0 0 2
Congenital anomalies of kidney and urinary tract 1 0 2 0 0 0 2
Congenital anomalies of kidney and urinary tract 2 0 2 0 0 0 2
Hypoparathyroidism, deafness, renal disease syndrome 1 1 0 0 0 2
Infantile nephronophthisis 0 2 0 0 0 2
Joubert syndrome 17 0 2 0 0 0 2
Polycystic liver disease 3 with or without kidney cysts 0 2 0 0 0 2
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 2 0 0 0 2
Bardet-Biedl syndrome 10 1 0 0 0 0 1
Bardet-Biedl syndrome 7 1 0 0 0 0 1
Beckwith-Wiedemann syndrome 0 1 0 0 0 1
Brachydactyly-syndactyly syndrome 0 1 0 0 0 1
Branchiooculofacial syndrome 0 1 0 0 0 1
Branchiootorenal syndrome 2 0 1 0 0 0 1
Carnitine palmitoyltransferase II deficiency 1 0 0 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 0 0 0 0 1
Cornelia de Lange syndrome 4 0 1 0 0 0 1
Cornelia de Lange syndrome 5 0 1 0 0 0 1
Crouzon syndrome 0 1 0 0 0 1
Currarino triad 0 1 0 0 0 1
DYRK1A-related intellectual disability syndrome 0 1 0 0 0 1
Duane-radial ray syndrome 0 1 0 0 0 1
Microphthalmia with brain and digit anomalies 0 1 0 0 0 1
Mowat-Wilson syndrome 0 1 0 0 0 1
Nail-patella syndrome 0 1 0 0 0 1
Nephronophthisis 1 1 0 0 0 0 1
Orofaciodigital syndrome 0 1 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 0 1
Polycystic kidney disease 6 with or without polycystic liver disease 0 1 0 0 0 1
Polycystic liver disease 1 0 1 0 0 0 1
Polycystic liver disease 2 0 1 0 0 0 1
Renal tubular dysgenesis 0 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 0 1 0 0 0 1
Stankiewicz-Isidor syndrome 0 1 0 0 0 1
Townes-Brocks syndrome 2 0 1 0 0 0 1
Tubulointerstitial kidney disease, autosomal dominant, 2 0 1 0 0 0 1
ZTTK syndrome 1 0 0 0 0 1

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