ClinVar Miner

Variants from Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub

Location: United Kingdom  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
841 430 202 0 8 1481

Gene and significance breakdown #

Total genes and gene combinations: 461
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
LDLR 55 65 11 0 131
BRCA2 60 3 3 0 66
BRCA1 39 6 0 0 45
USH2A 29 7 4 0 40
ABCA4 23 11 4 0 38
COL4A4 10 13 2 0 25
COL4A5 7 13 4 0 24
GJB2 18 3 3 0 24
PKD1 16 5 3 0 24
SLC12A3 15 8 1 0 24
CLCN1 14 5 1 0 20
PALB2 17 1 0 0 18
MSH2 15 0 2 0 17
GLA, RPL36A-HNRNPH2 10 6 0 0 16
SLC26A4 11 4 0 0 15
COL4A3, MFF-DT 7 7 0 0 14
MLH1 10 4 0 0 14
MYO15A 6 3 4 0 13
WFS1 4 8 1 0 13
BRCA1, LOC126862571 12 0 0 0 12
APOB 0 3 8 0 11
MSH6 7 3 1 0 11
PTEN 5 3 3 0 11
PMS2 7 3 0 0 10
ADGRV1 7 1 1 0 9
CCDST, FLG 4 2 3 0 9
IRF6 5 3 1 0 9
ATM 5 1 2 0 8
MYO7A 4 4 0 0 8
PRPH2 3 3 2 0 8
ACADM 4 2 1 0 7
ATM, C11orf65 7 0 0 0 7
BRIP1 5 2 0 0 7
CDH23 3 3 1 0 7
CYLD 6 1 0 0 7
FGFR2 5 1 1 0 7
GLMN 3 3 1 0 7
NOTCH3 7 0 0 0 7
ALOX12B 2 2 2 0 6
BEST1 2 4 0 0 6
CDKL5, RS1 2 3 1 0 6
CFTR 2 3 1 0 6
CTNS 4 2 0 0 6
GAA 6 0 0 0 6
IFT140 3 1 2 0 6
PKD2 6 0 0 0 6
RHO 2 4 0 0 6
RP1 2 3 1 0 6
STRC 2 0 4 0 6
VPS13B 2 0 4 0 6
CEP290 4 1 0 0 5
CHEK2 3 2 0 0 5
COL11A2 1 1 3 0 5
FLCN 3 1 1 0 5
GLB1 4 1 0 0 5
LOXHD1 2 2 1 0 5
NBAS 3 1 1 0 5
OPA1 5 0 0 0 5
RAD51C 2 3 0 0 5
RPGR 3 2 0 0 5
WAS 3 2 0 0 5
ATP6V1B1 1 2 1 0 4
CLASP1, RNU4ATAC 1 3 0 0 4
CNGB1 2 2 0 0 4
GH-LCR, SCN4A 4 0 0 0 4
GUCY2D 2 2 0 0 4
IFT140, LOC105371046 3 1 0 0 4
LZTR1 3 0 1 0 4
MITF 3 1 0 0 4
NF1 1 0 3 0 4
OTOA 3 0 1 0 4
PCSK9 1 2 1 0 4
POLR2F, SOX10 0 4 0 0 4
SLC37A4 2 2 0 0 4
STK11 2 0 2 0 4
TP53 2 2 0 0 4
ACO2 2 0 1 0 3
AHI1 1 0 1 1 3
AIRE 2 0 1 0 3
ARSA 1 2 0 0 3
ATP1A2 1 0 2 0 3
ATP6V0A4 1 2 0 0 3
C2CD3 2 1 0 0 3
CACNA1F 3 0 0 0 3
CHD7 0 0 3 0 3
CNGA3 0 2 1 0 3
COL2A1 0 1 2 0 3
COL9A2, LOC129930261 3 0 0 0 3
CRB1 0 3 0 0 3
DNAH9 3 0 0 0 3
DYNC2H1 1 1 1 0 3
EDAR, RANBP2 0 3 0 0 3
EDNRB 1 1 1 0 3
EYA1 2 0 1 0 3
FGFR3 3 0 0 0 3
G6PC1 2 1 0 0 3
KLHL3 0 2 1 0 3
LEMD3 1 1 1 0 3
MIR9718, SIX1 0 2 1 0 3
MYO6 2 1 0 0 3
NR2E3 1 1 1 0 3
NR3C2 3 0 0 0 3
OTOGL 2 1 0 0 3
PHKA2 1 1 1 0 3
POLG 1 2 0 0 3
PROM1 2 0 0 1 3
PTPRQ 3 0 0 0 3
RAD51D, RAD51L3-RFFL 2 1 0 0 3
RECQL4 2 0 1 0 3
RP1L1 1 1 1 0 3
SLC4A11 2 1 0 0 3
TBX6 0 0 3 0 3
TGM1 1 1 1 0 3
TMC1 1 2 0 0 3
TMPRSS3 1 2 0 0 3
TSPEAR 1 0 2 0 3
TYR 1 0 2 0 3
WNT10A 1 1 1 0 3
ABCA4, LOC126805793 1 0 1 0 2
ACTG1 0 2 0 0 2
AFG3L2 0 1 1 0 2
AVPR2 2 0 0 0 2
B4GALT7 1 0 1 0 2
BBS2 2 0 0 0 2
BBS9 1 1 0 0 2
BTD 0 2 0 0 2
BTK 0 2 0 0 2
CABP2 0 1 1 0 2
CCNH, RASA1 2 0 0 0 2
CDC14A 0 2 0 0 2
CDH1 2 0 0 0 2
CEP250 1 0 1 0 2
CERKL 2 0 0 0 2
CERS3 0 1 1 0 2
CNGA1, LOC101927157 2 0 0 0 2
CNGB3 2 0 0 0 2
COG4 2 0 0 0 2
COL18A1 1 1 0 0 2
COQ8A 1 1 0 0 2
CYP24A1 1 1 0 0 2
DHCR7 0 2 0 0 2
EDA 2 0 0 0 2
EYS 1 0 1 0 2
FH 0 0 2 0 2
FOXC1 0 2 0 0 2
GALT 1 0 1 0 2
GCDH 0 2 0 0 2
GJB6 0 1 1 0 2
GPR143 1 1 0 0 2
GPSM2 2 0 0 0 2
HSALR1, PIEZO1 1 1 0 0 2
IDUA 2 0 0 0 2
IL2RG 2 0 0 0 2
IQCB1 2 0 0 0 2
KCNQ1 2 0 0 0 2
KRAS 1 1 0 0 2
LIX1L, LOC126805851, RBM8A 0 1 1 0 2
LOC107303340, VHL 1 0 1 0 2
LOC129992813, PKD2 2 0 0 0 2
LRP5 2 0 0 0 2
MLC1 2 0 0 0 2
MPZL2 2 0 0 0 2
MTO1 2 0 0 0 2
NDP 0 2 0 0 2
NEU1 2 0 0 0 2
NIPAL4 0 1 1 0 2
NMNAT1 2 0 0 0 2
OBSL1 2 0 0 0 2
OTC 0 2 0 0 2
OTOG 2 0 0 0 2
PAPSS2 0 0 2 0 2
PAX3 0 2 0 0 2
PAX6 1 0 1 0 2
PCARE 2 0 0 0 2
PEX7 2 0 0 0 2
PKD1L1 1 0 1 0 2
PKHD1 2 0 0 0 2
PMM2 1 1 0 0 2
POMGNT1, TSPAN1 0 0 1 1 2
POU4F3, RBM27-POU4F3 0 2 0 0 2
PRPF8 1 1 0 0 2
PTPN11 2 0 0 0 2
RP2 2 0 0 0 2
RPE65 1 1 0 0 2
RPGRIP1 2 0 0 0 2
SDHB 0 2 0 0 2
SDR9C7 0 1 1 0 2
SH2D1A 0 2 0 0 2
SLC34A1 0 1 1 0 2
SLC4A1 0 1 1 0 2
SNRNP200 0 2 0 0 2
SYN3, TIMP3 1 1 0 0 2
TBCEL-TECTA, TECTA 1 1 0 0 2
TCF12 2 0 0 0 2
TGFBI 2 0 0 0 2
TWIST1 0 2 0 0 2
TWNK 1 1 0 0 2
VHL 1 1 0 0 2
WDR19 1 0 1 0 2
WDR72 2 0 0 0 2
AARS2 1 0 0 0 1
ABCA12 1 0 0 0 1
ABCC6 0 0 1 0 1
ABCC6, LOC125146421 0 0 1 0 1
ACAD9 0 1 0 0 1
ACBD5 1 0 0 0 1
ACBD6, LHX4 0 0 1 0 1
ACE 0 1 0 0 1
ACO2, POLR3H 0 0 1 0 1
ADAMTS18 1 0 0 0 1
AFG2A 1 0 0 0 1
AGL 1 0 0 0 1
AGT 0 1 0 0 1
AIPL1 1 0 0 0 1
ALDOB 1 0 0 0 1
ALG1 0 0 1 0 1
ALG6 0 1 0 0 1
ALG8 1 0 0 0 1
ALMS1 1 0 0 0 1
ALOXE3 1 0 0 0 1
ALOXE3, LOC130060198 0 1 0 0 1
ALPL 0 0 1 0 1
APOE 1 0 0 0 1
ATF6 0 0 0 1 1
ATP6V0A2 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 1
AXIN2 1 0 0 0 1
B3GALT6 1 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 1
BBS5 0 0 1 0 1
BBS7 0 0 1 0 1
BICD2 1 0 0 0 1
BRAT1 1 0 0 0 1
C1QTNF5, MFRP 1 0 0 0 1
CACNA1A 1 0 0 0 1
CACNA1S 0 1 0 0 1
CACNA2D4 0 0 1 0 1
CCDC88C 1 0 0 0 1
CDH3 0 1 0 0 1
CDHR1 0 1 0 0 1
CEP164 1 0 0 0 1
CFAP410 1 0 0 0 1
CHRNG 1 0 0 0 1
CLDN14 0 1 0 0 1
CLDN19 0 0 1 0 1
CLN6 0 1 0 0 1
CLRN1 1 0 0 0 1
CNTNAP1 0 0 1 0 1
COCH 0 0 1 0 1
COG5 1 0 0 0 1
COG6 1 0 0 0 1
COL4A1 0 0 1 0 1
COL4A2 0 1 0 0 1
COL6A3 1 0 0 0 1
COL9A1 1 0 0 0 1
COQ4 0 0 1 0 1
COQ8B 0 0 1 0 1
CREBBP 0 0 1 0 1
CRIPT 0 1 0 0 1
CTC1 1 0 0 0 1
CTC1, PFAS 0 0 1 0 1
CTSD 1 0 0 0 1
CYP21A2, LOC106780800 1 0 0 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 0 1
CYP4V2 0 1 0 0 1
DARS2 1 0 0 0 1
DCHS1 1 0 0 0 1
DCTN5, PALB2 1 0 0 0 1
DDX11 0 0 1 0 1
DLG5 0 0 1 0 1
DMP1, DSPP 1 0 0 0 1
DNAH5 1 0 0 0 1
DNAI1 1 0 0 0 1
DNM2 0 0 1 0 1
DOK7 1 0 0 0 1
DONSON 0 0 1 0 1
DOP1A, PGM3 0 0 1 0 1
DPAGT1 0 1 0 0 1
DRAM2 0 1 0 0 1
DSG1, DSG4 1 0 0 0 1
DSP 0 1 0 0 1
DYNC2I1 1 0 0 0 1
EDARADD 0 0 0 1 1
ELP4, PAX6 1 0 0 0 1
EPHA2 0 1 0 0 1
ERCC2 1 0 0 0 1
ERF 1 0 0 0 1
ESRRB 0 1 0 0 1
ETFA 0 1 0 0 1
EVC 1 0 0 0 1
EYA4, TARID 1 0 0 0 1
EYS, PHF3 0 0 1 0 1
FAH 0 0 1 0 1
FANCD2, LOC107303338 1 0 0 0 1
FANCD2, LOC107303338, VHL 0 0 1 0 1
FANCI 0 1 0 0 1
FAS 0 1 0 0 1
FBN1 0 1 0 0 1
FBP1 0 1 0 0 1
FLNA 1 0 0 0 1
FLVCR1 0 0 1 0 1
FYCO1 1 0 0 0 1
FZD4 0 1 0 0 1
GALC 0 1 0 0 1
GATA3 1 0 0 0 1
GBE1 1 0 0 0 1
GIPC3 1 0 0 0 1
GJB3 0 1 0 0 1
GMPPB 1 0 0 0 1
GPR179 0 1 0 0 1
GRK1 0 1 0 0 1
GRM7 0 1 0 0 1
GRXCR1 0 1 0 0 1
GSDME 1 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 1 0 0 0 1
GUCY2C 0 1 0 0 1
HAAO 1 0 0 0 1
HARS2, LOC119407423 0 0 1 0 1
HGSNAT 0 0 1 0 1
HRAS, LRRC56 1 0 0 0 1
HSD17B4 1 0 0 0 1
IARS2 0 0 1 0 1
IBA57 0 0 1 0 1
IDS, LOC106050102 1 0 0 0 1
IDUA, SLC26A1 1 0 0 0 1
IFT172 1 0 0 0 1
IFT74 0 0 1 0 1
ILDR1 1 0 0 0 1
IMPDH1 1 0 0 0 1
IMPG2 0 1 0 0 1
ITGB4 0 1 0 0 1
JUP 1 0 0 0 1
KCNJ1 0 1 0 0 1
KCNJ2 0 0 1 0 1
KIAA0586 1 0 0 0 1
KRT10 1 0 0 0 1
KRT16 0 1 0 0 1
KRT2 0 1 0 0 1
KRT9 1 0 0 0 1
LAMA1 1 0 0 0 1
LAMA2 1 0 0 0 1
LAMB1 1 0 0 0 1
LARS2 0 1 0 0 1
LCA5 0 1 0 0 1
LETM1 0 0 1 0 1
LFNG 1 0 0 0 1
LHFPL5 0 1 0 0 1
LMX1A 0 0 1 0 1
LOC112806037, MERTK 0 0 1 0 1
LOC123956210, SLC26A4 1 0 0 0 1
LOC126653398, TSPEAR 0 1 0 0 1
LOC126806368, MMADHC 0 0 1 0 1
LOC126862361, SLC12A3 1 0 0 0 1
LOC129930668, PGM1 0 0 1 0 1
LOC129998021, TWIST1 0 1 0 0 1
LOC130067016, LZTR1 1 0 0 0 1
LONP1 1 0 0 0 1
LRP6 1 0 0 0 1
LTBP1 1 0 0 0 1
LURAP1L, TYRP1 1 0 0 0 1
MAGED2 1 0 0 0 1
MARVELD2 1 0 0 0 1
MASP1 0 0 0 1 1
MERTK 1 0 0 0 1
MFN2 0 0 1 0 1
MFSD8 1 0 0 0 1
MIR1225, PKD1 0 1 0 0 1
MIR1225, PKD1, TSC2 0 1 0 0 1
MKS1 1 0 0 0 1
MMACHC 1 0 0 0 1
MPDZ 1 0 0 0 1
MPV17 0 1 0 0 1
MSTO1 1 0 0 0 1
MTTP 0 0 0 1 1
MUSK 0 1 0 0 1
MVK 0 0 1 0 1
MVP-DT, PRRT2 1 0 0 0 1
MYH10 0 0 1 0 1
MYO18B 1 0 0 0 1
MYO3A 1 0 0 0 1
NAGA 0 0 1 0 1
NAGLU 1 0 0 0 1
NDUFS7 0 0 1 0 1
NEB 1 0 0 0 1
NEK1 1 0 0 0 1
NEK8 0 0 1 0 1
NPC2 1 0 0 0 1
NPHP4 1 0 0 0 1
NPHS1 0 1 0 0 1
NPR2 0 0 1 0 1
ODAD2 1 0 0 0 1
ORC1 0 1 0 0 1
OTOF 1 0 0 0 1
PAICS 0 1 0 0 1
PCNT 1 0 0 0 1
PDSS1 0 0 1 0 1
PDZD7 1 0 0 0 1
PEX1 1 0 0 0 1
PHKA1 0 1 0 0 1
PIBF1 1 0 0 0 1
PIEZO1 1 0 0 0 1
PIGL 0 0 1 0 1
PIGN 1 0 0 0 1
PIK3C2A 0 1 0 0 1
PLEC 0 0 1 0 1
PNPT1 1 0 0 0 1
POU3F4 0 1 0 0 1
PPT1 1 0 0 0 1
PRG4 0 0 1 0 1
PRPF31 0 1 0 0 1
PYCR1 0 1 0 0 1
PYGM 1 0 0 0 1
RAPSN 0 1 0 0 1
RBM8A 0 1 0 0 1
RIT1 1 0 0 0 1
RLBP1 0 1 0 0 1
RNASEH1 1 0 0 0 1
RNU12 0 1 0 0 1
RRAGD 0 1 0 0 1
SAG 1 0 0 0 1
SBDS 1 0 0 0 1
SCN5A 0 1 0 0 1
SCNN1A 0 1 0 0 1
SCNN1B 1 0 0 0 1
SERPINB7 1 0 0 0 1
SGSH 0 1 0 0 1
SKIC3 0 1 0 0 1
SLC19A2 1 0 0 0 1
SLC29A3 1 0 0 0 1
SLC2A9 1 0 0 0 1
SLC39A4 1 0 0 0 1
SLC52A3 0 0 1 0 1
SLC5A2 0 1 0 0 1
SLX4 1 0 0 0 1
SMARCB1 1 0 0 0 1
SMG9 1 0 0 0 1
SOS1 1 0 0 0 1
SPG7 1 0 0 0 1
SRD5A3 1 0 0 0 1
SSBP1 1 0 0 0 1
SURF1 0 1 0 0 1
SYNE4 1 0 0 0 1
TBC1D24 1 0 0 0 1
TEK 0 1 0 0 1
TK2 1 0 0 0 1
TMEM216 1 0 0 0 1
TPP1 1 0 0 0 1
TRPM1 1 0 0 0 1
TSPAN12 0 1 0 0 1
TTC21B 0 1 0 0 1
TUBA1A 0 0 1 0 1
TUBB3 1 0 0 0 1
UBIAD1 0 0 1 0 1
UCHL1 1 0 0 0 1
UMOD 0 1 0 0 1
UNC13D 0 1 0 0 1
USP45 0 0 0 1 1
WDPCP 0 1 0 0 1
WNK4 0 1 0 0 1
ZEB1 1 0 0 0 1
ZNF335 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 58
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
Retinal disorder 135 77 37 5 254
Monogenic hearing loss 119 58 30 1 208
Fetal anomalies with a likely genetic cause 82 38 39 0 159
Familial hypercholesterolemia 57 70 20 0 147
Inherited breast cancer and ovarian cancer 124 12 5 0 141
Hematuria 24 32 6 0 62
Renal tubulopathies 30 22 6 0 58
Inherited ovarian cancer (without breast cancer) 43 6 0 0 49
Inherited MMR deficiency (Lynch syndrome) 36 10 2 0 48
Cystic renal disease 34 9 2 0 45
Ichthyosis and erythrokeratoderma 11 10 11 0 32
Skeletal muscle channelopathy 19 5 2 0 26
Glycogen storage disease 15 6 1 0 22
Possible mitochondrial disorder - nuclear genes 8 7 7 0 22
Optic neuropathy 10 6 3 0 19
Pigmentary skin disorders 12 0 6 0 18
Ectodermal dysplasia 7 5 3 1 16
Fabry disease 10 6 0 0 16
Multiple monogenic benign skin tumours 9 3 3 0 15
Common craniosynostosis syndromes 9 4 1 0 14
Inherited prostate cancer 9 1 0 0 10
Lysosomal storage disease 7 3 0 0 10
PTEN hamartoma tumor syndrome 4 3 3 0 10
Palmoplantar keratodermas 4 3 3 0 10
Vascular skin disorders 5 4 1 0 10
Structural eye disease 0 5 3 1 9
Van der Woude syndrome 5 3 1 0 9
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 7 0 0 0 7
Corneal dystrophy 5 1 1 0 7
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up 4 2 1 0 7
Inherited renal cancer 1 2 2 0 5
Mitochondrial DNA maintenance disorder 1 3 1 0 5
Paroxysmal central nervous system disorders 3 0 2 0 5
Wiskott-Aldrich syndrome 3 2 0 0 5
Cystinosis 3 1 0 0 4
Li-Fraumeni syndrome 2 2 0 0 4
Peutz-Jeghers syndrome 2 0 2 0 4
Von Hippel-Lindau syndrome 2 1 1 0 4
Mucopolysaccharidosis, MPS-I-H/S 3 0 0 0 3
Unexplained young onset end-stage renal disease 0 2 1 0 3
Agammaglobulinaemia with absent BTK expression 0 2 0 0 2
Bardet-Biedl syndrome 2 0 0 0 2
Glutaric acidaemia I newborn screening follow up 0 2 0 0 2
Hereditary diffuse gastric adenocarcinoma 2 0 0 0 2
Likely inborn error of metabolism 0 2 0 0 2
Lymphoproliferative syndrome with absent SAP expression 0 2 0 0 2
SCID with features of gamma chain deficiency 2 0 0 0 2
Sporadic aniridia 2 0 0 0 2
Adult onset neurodegenerative disorder 1 0 0 0 1
Autoimmune lymphoproliferative syndrome with defective apoptosis 0 1 0 0 1
Autoimmune polyendocrinopathy 1 0 0 0 1
Congenital fibrosis of extraocular muscles 1 0 0 0 1
Familial rhabdoid tumours 1 0 0 0 1
Hypochondroplasia 1 0 0 0 1
Mucopolysaccharidosis, MPS-II 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-A 0 1 0 0 1
Rare genetic inflammatory skin disorders 1 0 0 0 1
Smith-Lemli-Opitz syndrome 0 1 0 0 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.