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:
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 total
168 192 1188 11 1 1560

Gene and significance breakdown #

Total genes and gene combinations: 494
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PKD1 41 21 13 1 0 76
COL4A5 15 18 8 0 0 41
COL4A3, LOC654841 3 28 4 0 0 35
COL4A4 10 16 1 0 0 27
CACNA1S 0 0 23 0 0 23
PKD2 12 2 3 0 0 17
ARID1B 0 0 13 0 0 13
PKHD1 2 3 8 0 0 13
CAD 0 0 12 0 0 12
SI 0 0 12 0 0 12
SLC12A3 3 8 1 0 0 12
TRPC6 2 5 4 1 0 12
INF2 1 5 4 0 0 10
NF1 1 1 8 0 0 10
NPHP3, NPHP3-ACAD11 1 3 6 0 0 10
NPHP4 1 4 5 0 0 10
TSC2 0 1 9 0 0 10
LRP2 0 0 9 0 0 9
NPHS1 2 2 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
CHD7 0 0 8 0 0 8
GLA, RPL36A-HNRNPH2 2 1 4 1 0 8
LRIG2 0 2 6 0 0 8
MYH9 0 1 7 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
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
HNF1A 4 2 1 0 0 7
HSPG2 0 0 7 0 0 7
KMT2D 0 0 7 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
CENPF 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
CLCN5 3 1 2 0 0 6
COL18A1 0 0 6 0 0 6
CPLANE1 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
EYA1 3 2 1 0 0 6
FANCM 0 0 6 0 0 6
FLNB 0 0 6 0 0 6
FUZ 0 0 6 0 0 6
GH-LCR, SCN4A 0 0 6 0 0 6
ITGB4 0 0 6 0 0 6
KIF7 0 0 6 0 0 6
LOC105371049, PKD1 3 2 1 0 0 6
MMUT 0 0 6 0 0 6
PNPLA6 0 0 6 0 0 6
PYGM 0 0 6 0 0 6
RPGRIP1L 0 0 6 0 0 6
SALL1 0 1 5 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
ALMS1 0 0 5 0 0 5
ALPL 0 0 5 0 0 5
ETFDH 0 0 5 0 0 5
FREM2 0 0 5 0 0 5
GATA6 0 0 5 0 0 5
HNF1B 0 1 3 1 0 5
HOXA13, LOC107126288 0 0 5 0 0 5
INPP5E 0 0 5 0 0 5
KANK1 0 0 5 0 0 5
MKKS 0 2 2 1 0 5
PAX2 0 5 0 0 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
BCOR 0 0 4 0 0 4
CC2D2A 0 0 4 0 0 4
CPT2 0 0 4 0 0 4
DLL3 0 0 4 0 0 4
EVC2 0 0 4 0 0 4
FOXC1 0 0 4 0 0 4
GNAS 0 1 3 0 0 4
HOXD13 0 0 4 0 0 4
HSD17B4 0 0 4 0 0 4
KIF14 0 0 4 0 0 4
NOTCH2 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
ROBO2 0 1 3 0 0 4
SCARB2 0 0 4 0 0 4
SDHB 0 0 4 0 0 4
SLC12A1 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
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
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
ALG8 0 0 3 0 0 3
AMN 0 0 3 0 0 3
ANKS6 0 0 3 0 0 3
ANOS1 0 1 1 1 0 3
ARFGEF1, CSPP1 0 0 3 0 0 3
ASXL1 0 0 3 0 0 3
ATP6V0A4 0 0 3 0 0 3
BBS1, ZDHHC24 0 0 3 0 0 3
BMP4 0 0 3 0 0 3
CASP10 0 0 3 0 0 3
CASR 0 2 1 0 0 3
CDKN1C 0 1 2 0 0 3
CEP164 0 0 3 0 0 3
CEP41 0 0 3 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
EHHADH 0 0 3 0 0 3
EIF2B4 0 0 3 0 0 3
ERCC4 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
FGFR2 0 1 2 0 0 3
FRAS1 0 0 3 0 0 3
FREM1 0 0 3 0 0 3
GATA3 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
INVS 0 0 3 0 0 3
ITGA6 0 0 3 0 0 3
JAG1 1 0 2 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
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
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
SLC16A12 0 1 2 0 0 3
SLC1A1, SPATA6L 0 0 3 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
TTC37 0 0 3 0 0 3
UPK3A 0 0 3 0 0 3
WDPCP 0 0 3 0 0 3
WDR35 0 0 3 0 0 3
WDR60 0 0 3 0 0 3
WNK4 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
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
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
CDKN1B 0 0 2 0 0 2
COL5A1 0 0 2 0 0 2
COQ2 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
DM1, LOC107075317, SIX5 0 0 2 0 0 2
DSTYK 0 0 2 0 0 2
EGF 0 0 2 0 0 2
EMP2 0 0 2 0 0 2
EPG5 0 0 2 0 0 2
ERCC6 0 0 2 0 0 2
ERCC6, ERCC6-PGBD3 0 0 2 0 0 2
FANCB 1 0 1 0 0 2
FANCE 0 0 2 0 0 2
FANCF 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
G6PC 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
GSN 0 0 2 0 0 2
HGD 0 0 2 0 0 2
HNF4A 0 1 1 0 0 2
HOGA1 0 0 2 0 0 2
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
ITGA8 0 0 2 0 0 2
KANK4 0 0 2 0 0 2
KAT6B 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
LOC106780803, TNXB 0 0 2 0 0 2
LPIN1 0 0 2 0 0 2
MLH1 0 0 2 0 0 2
MNX1 0 0 2 0 0 2
MSH6 2 0 0 0 0 2
MUC1 0 0 2 0 0 2
MYH7 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
PEX1 0 0 2 0 0 2
PGM3 0 0 2 0 0 2
PIK3R2 0 0 2 0 0 2
PMS2 1 1 0 0 0 2
POMT1 0 0 2 0 0 2
POR 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
REN 0 1 1 0 0 2
RET 0 0 2 0 0 2
RMND1 0 0 2 0 0 2
ROR2 0 0 2 0 0 2
SCN5A 1 1 0 0 0 2
SIX2 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
SOX18, TCEA2 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
TBX18 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
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
AOPEP, FANCC 0 0 1 0 0 1
AQP2 0 0 1 0 0 1
AQP2, LOC101927318 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
BBS1 0 0 1 0 0 1
BBS10 0 0 1 0 0 1
BBS12 0 0 1 0 0 1
BBS4 0 0 1 0 0 1
BBS9 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
CD96 0 0 1 0 0 1
CDC5L 0 0 1 0 0 1
CDC73 0 1 0 0 0 1
CDKN1B, GPR19 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
CIAPIN1, COQ9, LOC112469007 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
COX20 0 0 1 0 0 1
COX20, HNRNPU 0 0 1 0 0 1
CTC1 0 0 1 0 0 1
CUL3 0 0 1 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
DNAAF1 0 0 1 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
EBP 0 0 1 0 0 1
EFEMP2 0 0 1 0 0 1
EIF2AK3 0 0 1 0 0 1
ENG 0 0 1 0 0 1
ENPP1 0 0 1 0 0 1
ERBB3 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
FANCL 0 0 1 0 0 1
FANCL, VRK2 0 0 1 0 0 1
FBLN5 0 0 1 0 0 1
FGF20 0 0 1 0 0 1
FKBP14 0 0 1 0 0 1
FLCN 1 0 0 0 0 1
FN1 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
HDAC8 0 0 1 0 0 1
HES7 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
IFT27, LOC105373021 0 0 1 0 0 1
ITGA3 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
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
LMX1B 1 0 0 0 0 1
LOC107982234, WT1 0 0 1 0 0 1
LOC112272600, MYO1E 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
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
NARS2 0 0 1 0 0 1
NEK8 0 0 1 0 0 1
NR3C2 0 0 1 0 0 1
NSDHL 0 0 1 0 0 1
OCRL 0 1 0 0 0 1
OFD1 0 0 1 0 0 1
PAF1 0 0 1 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
PREPL, SLC3A1 0 1 0 0 0 1
PRKCD 0 0 1 0 0 1
PROKR2 0 0 1 0 0 1
PTH1R 0 0 1 0 0 1
PTPRO 0 0 1 0 0 1
RBBP8 0 0 1 0 0 1
RIPK4 0 0 1 0 0 1
RIPPLY2 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
SALL4 0 0 1 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
SIX1 0 0 0 1 0 1
SLC1A1 0 0 1 0 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
SLC9A3R1 0 0 1 0 0 1
SMC1A 0 1 0 0 0 1
SOX11 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
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
WDR34 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
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: 1
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 168 192 1188 11 1 1560

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