ClinVar Miner

Variants from NHS Central & South 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
491 209 128 2 0 829

Gene and significance breakdown #

Total genes and gene combinations: 262
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
NF1 148 36 8 1 193
CFTR 28 4 2 0 34
FBN1 13 9 3 0 25
NOTCH3 12 6 1 0 19
TSC2 14 4 0 0 18
BRCA2 12 2 2 0 16
DNAH5 11 1 3 0 14
TYR 8 0 5 0 13
AR 5 6 0 0 11
BRCA1 8 2 1 0 11
SDHB 11 0 0 0 11
AGL 6 3 1 0 10
FLCN 5 5 0 0 10
ACAN 3 0 6 0 9
FGFR1 4 1 4 0 9
TSC1 8 1 0 0 9
LOC111811965, MIR4733HG, NF1 6 2 0 0 8
SDHD 5 3 0 0 8
OCA2 2 3 2 0 7
PTPN11 6 1 0 0 7
CPT2 4 1 0 0 5
DNAH11 4 1 0 0 5
GNRHR 3 2 0 0 5
HSD17B3, SLC35D2-HSD17B3 3 2 0 0 5
MSH6 3 2 0 0 5
NBAS 1 2 2 0 5
PMS2 4 0 1 0 5
ACADVL 1 2 1 0 4
ANOS1 3 0 1 0 4
CFTR, LOC111674475 4 0 0 0 4
GAA 2 2 0 0 4
LOC107303340, VHL 2 0 2 0 4
LZTR1 2 1 1 0 4
MSH2 3 1 0 0 4
SDHA 1 1 2 0 4
SPRED1 0 4 0 0 4
SRCAP 1 0 3 0 4
SRD5A2 1 3 0 0 4
AMH 1 1 1 0 3
ATM, C11orf65 3 0 0 0 3
BRIP1 2 1 0 0 3
CCDC39 1 1 1 0 3
CHEK2 2 1 0 0 3
CUL7 1 0 2 0 3
CYP11B1 3 0 0 0 3
CYP17A1 1 2 0 0 3
DHH 1 2 0 0 3
HYDIN 1 0 2 0 3
IGF1R 1 0 2 0 3
IGFALS 0 3 0 0 3
LOC107652445, SHOX 1 0 2 0 3
LPIN1 2 1 0 0 3
MMUT 2 1 0 0 3
NPR2, SPAG8 1 2 0 0 3
PROP1 3 0 0 0 3
PYGM 1 1 1 0 3
RET 2 0 1 0 3
SDHC 1 2 0 0 3
ACTA2 0 1 1 0 2
AGR2 0 2 0 0 2
ALDH5A1 0 2 0 0 2
ALDOB 1 1 0 0 2
ATM 2 0 0 0 2
BRCA1, LOC126862571 2 0 0 0 2
CBL 0 0 2 0 2
CFTR, LOC111674477 1 0 1 0 2
COL3A1 1 1 0 0 2
CYP11B1, LOC106799833 1 0 1 0 2
DHX37 1 1 0 0 2
DNAI2 1 0 1 0 2
DYSF 1 1 0 0 2
ETFDH 1 0 1 0 2
FGFR3 0 0 2 0 2
FH 0 1 1 0 2
GBE1 1 1 0 0 2
GHR 0 1 1 0 2
GNAS 0 1 1 0 2
IGF1, LINC02456 2 0 0 0 2
IPO8 1 0 1 0 2
MCCC2 0 0 2 0 2
MLH1 1 1 0 0 2
NPR2 1 0 1 0 2
NR2F1 0 2 0 0 2
NR5A1 1 0 1 0 2
OBSCN 1 1 0 0 2
PHKA2 0 1 1 0 2
POLR2F, SOX10 0 1 1 0 2
POR 1 1 0 0 2
PROK2 0 0 2 0 2
PROKR2 0 1 1 0 2
PYGL 1 1 0 0 2
RAD51D, RAD51L3-RFFL 1 1 0 0 2
RSPH4A 2 0 0 0 2
RYR1 0 1 1 0 2
SEMA3F 0 0 2 0 2
SLC22A5 0 2 0 0 2
SLC2A10 1 1 0 0 2
SMAD3 0 2 0 0 2
TACR3 2 0 0 0 2
TANGO2 0 1 1 0 2
TGFBR1 0 1 1 0 2
TOP3A 1 0 1 0 2
AARS1 0 0 0 1 1
ABCD1, PLXNB3 0 1 0 0 1
ACTC1, GJD2-DT 0 0 1 0 1
ACTG2 1 0 0 0 1
ACTN2 0 0 1 0 1
ADAR 1 0 0 0 1
ALG9 0 0 1 0 1
ALPL 1 0 0 0 1
AMH, LOC108783649 0 0 1 0 1
AMHR2 1 0 0 0 1
ANKRD11 1 0 0 0 1
ANO5 0 1 0 0 1
AR, LOC109504725 1 0 0 0 1
ASPH 0 1 0 0 1
ASXL1 0 0 1 0 1
BAP1 1 0 0 0 1
BCKDHA 1 0 0 0 1
CBS 1 0 0 0 1
CCDC40 0 1 0 0 1
CCDC8 0 0 1 0 1
CDC42 1 0 0 0 1
CDKN1C 0 1 0 0 1
CFTR, LOC111674472 1 0 0 0 1
CFTR, LOC113664106 1 0 0 0 1
CHD7 0 1 0 0 1
CHRNG 1 0 0 0 1
CNKSR2 0 0 1 0 1
COL1A1 1 0 0 0 1
COL2A1 1 0 0 0 1
COL5A1 1 0 0 0 1
COL6A1 1 0 0 0 1
CTU2 1 0 0 0 1
CYP11A1 0 0 1 0 1
CYP19A1, MIR4713HG, PIRC66 0 1 0 0 1
DHCR7 1 0 0 0 1
DMD 1 0 0 0 1
DNAAF1 1 0 0 0 1
DNAAF11 0 1 0 0 1
DNAAF19 1 0 0 0 1
DNAAF4, DNAAF4-CCPG1 1 0 0 0 1
DNAH5, LOC126807318 1 0 0 0 1
DNAI1 1 0 0 0 1
DRC2 1 0 0 0 1
DYNC2I2, LOC126860772 0 1 0 0 1
EBF3 1 0 0 0 1
EIF2B5 0 1 0 0 1
ELN 0 0 1 0 1
ERF 0 0 1 0 1
EVI2A, NF1 0 1 0 0 1
FANCA 0 0 1 0 1
FANCD2, LOC107303338 1 0 0 0 1
FANCG 1 0 0 0 1
FBN1, LOC113939944 1 0 0 0 1
FGF8 0 0 1 0 1
FKRP 0 1 0 0 1
FLNA 0 0 1 0 1
FLNB 0 1 0 0 1
FLT4 1 0 0 0 1
GATA6 0 0 1 0 1
GHRHR 1 0 0 0 1
GLE1, LOC101929270 1 0 0 0 1
GLI2 0 0 1 0 1
GLI3 1 0 0 0 1
GMPPB 0 1 0 0 1
GNRH1 0 0 1 0 1
GPR143 1 0 0 0 1
GYG1 0 1 0 0 1
GYS2 1 0 0 0 1
HCN1 0 0 1 0 1
HESX1 1 0 0 0 1
HNMT 0 1 0 0 1
HRAS, LRRC56 0 0 1 0 1
IGF1R, LOC126862245 1 0 0 0 1
IHH 1 0 0 0 1
KAT8 0 0 1 0 1
KCNQ1 0 1 0 0 1
KIF5B 0 1 0 0 1
KISS1R 1 0 0 0 1
KMT2B 1 0 0 0 1
KMT2D 1 0 0 0 1
LOC122756382, LPIN1 1 0 0 0 1
LOC126860075, POR 1 0 0 0 1
LOC126861339, SDHD 0 1 0 0 1
LOC129929542, SDHB 1 0 0 0 1
LOC129934333, TMEM127 0 1 0 0 1
LRP4 1 0 0 0 1
LRRC56 0 1 0 0 1
MAP3K1 0 1 0 0 1
MARK2 0 0 1 0 1
MECP2 0 1 0 0 1
MFN2 0 1 0 0 1
MPZ 1 0 0 0 1
MYH11, NDE1 0 0 1 0 1
NCAPH2, SCO2 0 1 0 0 1
NEFH 0 1 0 0 1
NEFL 0 1 0 0 1
NFIA 1 0 0 0 1
NOTCH2 1 0 0 0 1
NPC1 1 0 0 0 1
NR0B1 1 0 0 0 1
NRXN1 1 0 0 0 1
OFD1 1 0 0 0 1
OTC 1 0 0 0 1
PAFAH1B1 0 1 0 0 1
PALB2 1 0 0 0 1
PAX6 1 0 0 0 1
PDE4D 0 1 0 0 1
PEX5 0 0 1 0 1
PFKM 0 0 1 0 1
PHKB 1 0 0 0 1
POLG 0 1 0 0 1
POLR2A 0 0 1 0 1
POLR3A 0 1 0 0 1
POLR3B 0 1 0 0 1
POU3F3 0 1 0 0 1
PPP1R12A 1 0 0 0 1
PRKAR1A 0 1 0 0 1
PTEN 1 0 0 0 1
PUF60 0 0 1 0 1
RAD51C 1 0 0 0 1
RAF1 1 0 0 0 1
REEP1 0 1 0 0 1
RIT1 0 0 1 0 1
RSPH1 1 0 0 0 1
RSPO1 1 0 0 0 1
RYR2 0 0 1 0 1
SCN4A 0 0 1 0 1
SCN8A 0 1 0 0 1
SDHAF2 0 1 0 0 1
SERPINA1 1 0 0 0 1
SETD1B 1 0 0 0 1
SHOX 0 0 1 0 1
SLC37A4 1 0 0 0 1
SLC45A2 0 1 0 0 1
SLC52A3 1 0 0 0 1
SLX4 0 0 1 0 1
SMPD1 0 1 0 0 1
SOD1 0 1 0 0 1
SOS1 1 0 0 0 1
SOX9 0 1 0 0 1
SP9 0 1 0 0 1
SPATA7 1 0 0 0 1
SPEN 0 0 1 0 1
SPG11 1 0 0 0 1
SPTAN1 0 0 1 0 1
SPTLC2 0 1 0 0 1
SRY 0 1 0 0 1
STAT5B 0 0 1 0 1
SYNGAP1 0 1 0 0 1
TAC3 0 0 1 0 1
TFG 1 0 0 0 1
TGFBR2 0 0 1 0 1
TRIOBP 1 0 0 0 1
VHL 0 1 0 0 1
WAC 1 0 0 0 1
WDFY3 1 0 0 0 1
WNK1 1 0 0 0 1
WT1 0 0 1 0 1
ZFP57 0 0 1 0 1
ZNF292 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Neurofibromatosis, type 1 154 43 8 1 206
Monogenic short statue 27 11 34 0 72
Differences in sex development 27 21 7 0 55
Respiratory ciliopathies including non-CF bronchiectasis 35 9 6 0 50
Thoracic aortic aneurysm or dissection 19 16 9 0 44
Inherited phaeochromocytoma and paraganglioma excluding NF1 23 11 6 0 40
Paediatric disorders 16 9 11 0 36
Acute rhabdomyolysis 13 16 5 0 34
Cystic fibrosis diagnostic test 28 2 3 0 33
Hypogonadotropic hypogonadism 13 6 13 0 32
Tuberous sclerosis syndrome 22 5 0 0 27
Inherited breast cancer and ovarian cancer 20 4 0 0 24
Albinism or congenital nystagmus 12 4 7 0 23
Glycogen storage disease 11 8 3 0 22
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 12 6 1 0 19
Inherited ovarian cancer (without breast cancer) 11 4 2 0 17
Inherited MMR deficiency (Lynch syndrome) 11 3 1 0 15
Likely inborn error of metabolism 5 4 4 0 13
Pneumothorax - familial 6 5 1 0 12
Fetal anomalies with a likely genetic cause 6 3 0 0 9
Other rare neuromuscular disorders 6 1 2 0 9
Pituitary hormone deficiency 7 1 1 0 9
Hereditary neuropathy or pain disorder 3 4 0 1 8
Intellectual disability 0 4 1 0 5
Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis 0 3 1 0 4
NICE approved PARP inhibitor treatment 3 0 0 0 3
Leukodystrophy, Adult-Onset 1 1 0 0 2
Lysosomal storage disease 1 1 0 0 2
Adult onset hereditary spastic paraplegia 0 1 0 0 1
Adult onset neurodegenerative disorder 0 1 0 0 1
Albinism; Congenital nystagmus 0 0 1 0 1
Arthrogryposis 0 1 0 0 1
Childhood onset hereditary spastic paraplegia 1 0 0 0 1
Hypotonic infant 0 0 1 0 1
Inherited prostate cancer 1 0 0 0 1
PTEN hamartoma tumor syndrome 1 0 0 0 1
Primary ciliary dyskinesia 0 1 0 0 1
Unexplained death in infancy and sudden unexplained death in childhood 0 0 1 0 1

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