ClinVar Miner

Variants from Clinical Genetics and Genomics, Karolinska University Hospital

Location: Sweden  Primary collection method: clinical testing
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
656 273 14 0 0 942

Gene and significance breakdown #

Total genes and gene combinations: 293
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA2 82 0 0 82
BRCA1 41 5 0 46
MEN1 25 4 0 29
CYP21A2, LOC106780800 17 9 0 26
APC 24 0 0 24
FBN1 12 9 1 22
AR 14 7 0 21
MSH2 18 2 0 20
CFTR 17 2 0 19
HBB, LOC106099062, LOC107133510 18 1 0 19
CEBPA 10 6 0 16
MLH1 15 1 0 16
MSH6 16 0 0 16
BRCA1, LOC126862571 14 0 0 14
RET 13 1 0 14
DYNC2H1 6 6 0 12
FGFR3 11 1 0 12
FLCN 11 1 0 12
COL2A1 5 5 0 10
GALC 4 6 0 10
MEFV 3 3 4 10
ARID1B 8 1 0 9
LOC126862264, MEFV 7 1 0 8
MECP2 7 1 0 8
SRD5A2 3 5 0 8
BTK 7 0 0 7
CHD7 4 3 0 7
CSF3R 6 1 0 7
GJB2 6 1 0 7
MUTYH 5 2 0 7
RYR1 0 7 0 7
TP53 3 4 0 7
KMT2A 6 0 0 6
PALB2 6 0 0 6
ELANE 3 2 0 5
PAPSS2 5 0 0 5
PTEN 3 2 0 5
CHEK2 2 2 0 4
COL1A2 3 1 0 4
EXT1 2 2 0 4
GNAS 0 4 0 4
KIT 4 0 0 4
NIPBL 3 1 0 4
PAX6 4 0 0 4
PMS2 3 1 0 4
SGCA 2 2 0 4
SHOX 2 2 0 4
TCF4 3 1 0 4
TRPV4 2 2 0 4
ANKRD11 2 1 0 3
BMPER 2 1 0 3
CAPN3 2 1 0 3
CASR 0 3 0 3
CDH1 3 0 0 3
CDKN1C 2 1 0 3
COL1A1 2 1 0 3
FOXF1 2 1 0 3
GRIN2B 1 2 0 3
HBB, LOC107133510, LOC110006319 3 0 0 3
KMT2D 2 1 0 3
LOC107303340, VHL 1 2 0 3
NR5A1 1 2 0 3
POU3F4 3 0 0 3
SACS 0 1 2 3
SATB2 2 1 0 3
SIN3A 2 1 0 3
SYNGAP1 1 2 0 3
TRPS1 3 0 0 3
TTR 3 0 0 3
ZBTB18 2 1 0 3
ALG3 2 0 0 2
ANO10 0 2 0 2
ASXL3 0 2 0 2
BMPR1A 1 1 0 2
BRAF 2 0 0 2
BRAT1 0 2 0 2
CAPN1 0 2 0 2
CDC73 2 0 0 2
CDKL5 2 0 0 2
CEP83 1 1 0 2
CFTR, LOC111674472 0 2 0 2
CNGB3 2 0 0 2
COL3A1 1 1 0 2
COL6A3 0 2 0 2
COL9A2 1 1 0 2
COMP 1 1 0 2
CREBBP 1 0 1 2
CRTAP 1 1 0 2
CSNK2A1 1 1 0 2
CTCF 0 2 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 2
DDX3X 2 0 0 2
DNMT3A 0 2 0 2
EFTUD2 0 2 0 2
GLA, RPL36A-HNRNPH2 0 2 0 2
GNPTG 2 0 0 2
HAX1 1 1 0 2
HNRNPU 1 1 0 2
IDH1 2 0 0 2
KIAA0753 1 1 0 2
LAMA2 2 0 0 2
LMNA 0 2 0 2
PLOD2 1 1 0 2
PLS3 0 2 0 2
PNKP 0 2 0 2
PRF1 2 0 0 2
PYGM 1 1 0 2
RAB3GAP2 2 0 0 2
RIT1 1 1 0 2
SEC24D 1 1 0 2
SETD5 2 0 0 2
SHANK3 1 1 0 2
SOX9 2 0 0 2
SPG7 1 1 0 2
STX11 2 0 0 2
TBL1XR1 0 2 0 2
TTN 1 1 0 2
UNC13D 2 0 0 2
WRAP53 0 2 0 2
AARS1 0 1 0 1
ACTA2 0 1 0 1
ACTB 0 1 0 1
ADAMTSL4 1 0 0 1
ADNP 0 1 0 1
ADSL 0 1 0 1
AFG3L2 1 0 0 1
ALG12 0 1 0 1
ALG9 1 0 0 1
ANK3 1 1 0 1
AR, LOC109504725 1 0 0 1
ARID2 1 0 0 1
ASAH1 0 1 0 1
ASPM 1 0 0 1
ATM 1 0 0 1
ATM, C11orf65 1 0 0 1
ATP1A3 1 0 0 1
ATP2A2 0 1 0 1
B9D1 1 0 0 1
BBS9 1 0 0 1
BMPR1B 0 1 0 1
CACNA1E 0 1 0 1
CAPN1, LOC126861236 0 1 0 1
CEBPA, LOC130064183 1 0 0 1
CFTR, LOC111674477 0 0 1 1
CFTR, LOC113664106 1 0 0 1
CHRNG 0 1 0 1
CLCN1 0 1 0 1
CLN5 0 1 0 1
COG4 0 1 0 1
COL10A1, NT5DC1 1 0 0 1
COL5A1 1 0 0 1
COL6A2 1 0 0 1
CTNNB1 1 0 0 1
CXCR4 1 0 0 1
CYP11A1 1 0 0 1
CYP11B1, LOC106799833 1 0 0 1
CYP2U1 0 1 0 1
CYP7B1 1 0 0 1
DCC 1 0 0 1
DEAF1 0 1 0 1
DLG3 0 1 0 1
DNAAF4, DNAAF4-CCPG1 0 1 0 1
DNAJC3 1 0 0 1
DOK7 0 1 0 1
DVL3 0 1 0 1
DYNC1H1 0 1 0 1
DYRK1A 1 0 0 1
DYSF 1 0 0 1
EBP 1 0 0 1
EIF2S3 1 0 0 1
ELN 1 0 0 1
ELP4, PAX6 0 1 0 1
EXOSC3 1 0 0 1
EXT2 1 0 0 1
FAM111A, LOC130005740 0 1 0 1
FBLN5 0 1 0 1
FGFR1 0 1 0 1
FKRP 0 1 0 1
FLNA 0 1 0 1
FLNB 1 0 0 1
FOXP1 1 0 0 1
FSHR 0 1 0 1
GATAD2B 1 0 0 1
GDAP1 0 1 0 1
GFPT1 1 0 0 1
GNAI3 0 1 0 1
GNB1 1 0 0 1
GPC3 0 1 0 1
GREB1L 0 1 0 1
GRIA1 0 1 0 1
GRIN2A 1 0 0 1
HBA1, HBA2, HBM, HBQ1, HBZ 1 0 0 1
HDAC8 0 1 0 1
HIF1A 1 0 0 1
HUWE1 0 1 0 1
IFITM5, PGGHG 1 0 0 1
IFT43 0 1 0 1
IHH 1 0 0 1
IL6ST 1 0 0 1
INPPL1 0 0 1 1
IQSEC2 0 1 0 1
KANSL1 0 1 0 1
KAT6A 1 0 0 1
KIF1A 0 1 0 1
KIF22 0 1 0 1
KIF7 1 0 0 1
KMT2D, LOC126861520 1 0 0 1
KMT5B 1 0 0 1
LBR 1 0 0 1
LIG4 0 0 1 1
LIPA 1 0 0 1
LMX1B 1 0 0 1
LOC126806878, TBL1XR1 0 1 0 1
LOC129389144, PLOD2 0 1 0 1
LOC129992585, SGCB 1 0 0 1
LOX, SRFBP1 1 0 0 1
LOXHD1 0 1 0 1
LRP5 0 1 0 1
LTBP3 1 0 0 1
MAMLD1 1 0 0 1
MAN1B1 0 1 0 1
MAP3K1 0 1 0 1
MATN3 0 1 0 1
MCFD2, TTC7A 1 0 0 1
MCM2 0 1 0 1
MEGF10 1 0 0 1
MME 0 1 0 1
MTMR2 0 1 0 1
MYL2 1 0 0 1
MYO7A 0 1 0 1
MYT1L 0 1 0 1
NEFH 0 1 0 1
NF1 1 0 0 1
NKAP 0 0 1 1
NPC1 0 1 0 1
NQO1 0 1 0 1
OFD1 0 1 0 1
OPTN 1 0 0 1
PACS1 1 0 0 1
PCARE 0 1 0 1
PDGFB 0 1 0 1
PHF6 0 1 0 1
PHOX2B 1 0 0 1
PIK3CA 0 1 0 1
PNPT1 0 1 0 1
POGLUT1 0 1 0 1
POLG, POLGARF 1 0 0 1
POLR3A 0 1 0 1
POMGNT1, TSPAN1 0 1 0 1
PRNP 1 0 0 1
PTPN11 0 1 0 1
RAD51C 1 0 0 1
RARB 0 1 0 1
RERE 0 1 0 1
RUNX1 1 0 0 1
RYR2 1 0 0 1
SCN11A 0 1 0 1
SCN5A 0 1 0 1
SDHA 0 1 0 1
SGCB 0 1 0 1
SGCG 0 1 0 1
SH3TC2 0 1 0 1
SMAD4 1 0 0 1
SMARCA2 0 1 0 1
SMARCA4 0 1 0 1
SMARCAL1 1 0 0 1
SPATA7 1 0 0 1
STK11 1 0 0 1
STRC 1 0 0 1
STXBP1 0 1 0 1
SZT2 0 1 0 1
TBCEL-TECTA, TECTA 0 1 0 1
TBX5 1 0 0 1
TCF12 0 1 0 1
TGFB3 1 0 0 1
TGFBR1 1 0 0 1
TGFBR2 0 0 1 1
THAP1 0 0 1 1
THOC6 1 0 0 1
TIA1 1 0 0 1
TMEM126B 0 1 0 1
TMEM240 0 1 0 1
TNNI2 1 0 0 1
TOR1A 1 0 0 1
TSPEAR 1 0 0 1
TTC7A 0 1 0 1
TUBB3 0 1 0 1
TUBB4A 0 1 0 1
WAC 1 0 0 1
WDR62 0 1 0 1
XRCC4 1 0 0 1
ZMPSTE24 1 0 0 1
ZMYND11 1 0 0 1

Condition and significance breakdown #

Total conditions: 33
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
not provided 638 263 9 910
Achromatopsia 3 2 0 0 2
Familial hypocalciuric hypercalcemia 1 0 2 0 2
Rod-cone dystrophy 2 0 0 2
Achondrogenesis type II 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1H 0 1 0 1
Cowden syndrome 1 0 1 0 1
DNA ligase IV deficiency 0 0 1 1
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 1 0 0 1
Exostoses, multiple, type 2 1 0 0 1
Gillessen-Kaesbach-Nishimura dysplasia 1 0 0 1
Greenberg dysplasia 1 0 0 1
Hypertelorism; Visual impairment; Nystagmus 0 1 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 0 1 1
Intellectual disability, autosomal dominant 41 0 1 0 1
Intellectual disability, autosomal dominant 42 1 0 0 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 1 0 1
KBG syndrome 1 0 0 1
Kniest dysplasia 1 0 0 1
Landau-Kleffner syndrome 1 0 0 1
Larsen syndrome 1 0 0 1
Macrocephaly-autism syndrome 0 1 0 1
Menke-Hennekam syndrome 1 0 0 1 1
Metachondromatosis 0 1 0 1
Neurofibromatosis, type 1 1 0 0 1
Opsismodysplasia 0 0 1 1
Rienhoff syndrome 1 0 0 1
Spinocerebellar ataxia type 25 0 1 0 1
Syndromic intellectual disability 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 0 1 0 1
Torsion dystonia 6 0 0 1 1
alpha Thalassemia 1 0 0 1

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