ClinVar Miner

Variants from Genome Diagnostics Laboratory, Amsterdam University Medical Center

Location: Netherlands  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
378 94 320 1277 1668 3711

Gene and significance breakdown #

Total genes and gene combinations: 796
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NOTCH1 0 0 3 37 39 79
ATM 5 1 4 17 28 55
FBN1 3 1 7 14 29 54
MYLK 0 0 4 18 29 51
NPC1 1 1 2 35 18 50
ZNF469 0 0 0 26 24 50
TSC2 0 0 2 27 18 47
FBN2 0 0 1 21 24 46
SETX 0 1 0 21 23 45
POLE 0 0 0 17 24 41
NOTCH3 2 0 1 13 21 37
SPG11 0 0 2 23 18 37
ATP7B 3 0 0 17 15 35
FLNA 1 0 5 13 16 35
COL11A1 1 0 1 3 29 34
VPS13A 0 0 0 20 14 34
LRP5 2 0 1 16 14 33
PALB2 3 1 0 16 12 32
MYH11 0 0 0 23 9 31
APC 0 0 1 14 15 30
COL5A1 0 0 1 11 18 30
COL2A1 1 0 0 0 27 28
CSF1R 0 0 1 19 10 28
MYH11, NDE1 0 0 2 15 11 28
NF1 2 0 0 9 17 28
POLD1 0 0 1 8 17 26
ARHGEF28 0 0 0 6 19 25
ATM, C11orf65 4 0 5 8 8 25
COL3A1 3 0 1 10 11 25
CP 0 0 3 10 12 25
CDH1 0 0 0 12 12 24
CHEK2 5 1 10 5 3 24
MSH6 2 0 1 12 9 24
TTN 0 0 24 0 0 24
LRRK2 1 0 0 6 16 23
MAPT 2 0 0 4 17 23
PDGFRB 0 0 1 14 8 23
SORL1 0 0 1 6 16 23
TNXB 2 0 0 15 6 23
COL1A1 2 0 0 7 13 22
PLOD1 1 0 0 13 8 22
COL11A2 0 0 0 3 18 21
EIF4G1 0 0 0 10 11 21
MLH1 2 0 3 5 11 21
MSH2 1 0 2 8 10 21
PMS2 1 0 2 6 12 21
ALS2 0 1 2 8 9 20
COL5A2 0 0 0 3 16 19
SDHA 1 2 0 6 10 19
COL1A2 1 0 0 7 10 18
ELN 0 0 0 10 8 18
RECQL4 0 0 0 12 6 18
COL9A2 0 0 1 0 16 17
TSC1 1 0 0 9 7 17
COL7A1 0 0 2 9 5 16
DNAJC13 0 0 0 11 5 16
FGFR3 2 0 0 5 9 16
COL9A1 0 0 0 4 11 15
COL9A3 0 0 0 1 14 15
NBAS 0 0 0 2 13 15
ATP13A2 0 0 0 5 9 14
AXIN2 0 0 0 8 6 14
BIVM-ERCC5, ERCC5 0 0 1 7 6 14
PTCH1 0 0 0 7 7 14
FLNB 0 0 0 6 7 13
GRN 3 0 0 7 3 13
LAMC3 0 0 1 7 5 13
SKI 0 0 0 9 4 13
SLC20A2 1 0 1 10 3 13
STK11 0 0 0 10 3 13
TGFBR2 1 1 1 6 4 13
VCP 0 0 1 8 4 13
ADAMTS2 0 0 0 2 10 12
ADAMTSL2 0 0 0 0 12 12
ALPL 2 0 0 0 10 12
CTSD 0 0 0 8 6 12
DICER1 1 0 0 7 4 12
FIG4 0 0 0 3 9 12
FUS 0 0 0 9 3 12
PSEN2 0 0 0 8 4 12
SMARCA4 0 0 0 4 8 12
ADAMTS17 1 0 0 0 10 11
ERBB4 0 0 0 6 5 11
SQSTM1 0 0 0 7 4 11
WRN 2 0 1 7 1 11
BLM 2 0 0 4 4 10
CBL 0 0 1 3 6 10
CLN3 0 0 1 7 2 10
COL12A1 0 0 0 3 7 10
EFEMP2 0 0 1 7 2 10
FH 2 0 0 5 3 10
FLCN 0 0 2 6 2 10
MUTYH 4 0 0 2 4 10
PRKAR1B 0 0 0 3 7 10
SCARF2 0 0 0 3 7 10
SDHB 1 0 1 4 4 10
SLC2A10 1 0 0 5 4 10
SLX4 0 0 0 2 8 10
TERT 0 0 2 1 7 10
TREM2 1 0 0 7 3 10
ALK 0 0 0 2 7 9
ATP1A3 0 0 0 6 3 9
BRIP1 2 0 0 4 3 9
CLN5 1 0 0 3 5 9
COL18A1, SLC19A1 0 0 0 0 9 9
FANCD2, LOC107303338 0 0 0 2 7 9
SMAD3 0 1 3 2 3 9
ADAMTS10 0 0 0 1 7 8
APOE 0 0 1 6 1 8
BBS9 2 0 0 2 4 8
CBS 1 0 0 3 4 8
ENG 0 0 0 3 5 8
ERCC2 1 0 1 3 3 8
FANCM 0 0 0 2 6 8
MET 1 0 0 4 3 8
NBN 0 1 2 3 2 8
NEFH 0 0 0 2 6 8
POLG, POLGARF 3 0 2 0 3 8
PRKG1 0 0 2 3 3 8
RYR1 2 0 6 0 0 8
SERPINI1 0 0 0 4 4 8
SMAD4 2 0 0 4 2 8
SOS1 0 0 1 3 4 8
TBK1 0 0 1 5 5 8
TGFBR1 0 0 1 5 2 8
BAP1 0 0 0 4 3 7
DNAJC6 0 0 0 4 3 7
FA2H 0 0 0 2 5 7
FBXO7 0 0 0 4 3 7
GATA4 0 0 0 1 6 7
PTCH2 0 0 0 1 6 7
PTEN 2 1 1 1 2 7
VCAN 0 0 0 1 6 7
ACTA2 3 0 0 0 3 6
ADAMTSL4 2 0 0 2 2 6
ANO5 0 1 0 0 5 6
BBS2 1 0 0 1 4 6
C19orf12 1 0 0 3 3 6
CHCHD10 0 0 0 2 4 6
COL5A1, LOC101448202 0 0 0 2 4 6
DIS3L2 0 0 0 2 4 6
FANCI 0 0 0 4 2 6
GIGYF2 0 0 0 2 4 6
HTRA1 0 0 0 3 3 6
KIT 0 0 0 3 3 6
LTBP2 0 0 0 0 6 6
LTBP4 0 0 0 0 6 6
LZTR1 0 0 0 2 4 6
PIK3CA 0 0 0 2 4 6
PLA2G6 0 0 0 5 1 6
PRNP 0 0 0 4 2 6
SERPINH1 0 0 0 0 6 6
SLC6A3 0 0 0 3 3 6
SYNJ1 0 0 0 0 6 6
TGFB3 1 0 3 2 0 6
ABL1 0 0 0 1 4 5
ACVRL1 0 0 0 2 3 5
AKT1 0 0 0 1 4 5
BBS12 0 0 0 1 4 5
BBS4 1 0 0 2 2 5
BGN 0 0 0 2 3 5
CEP290 5 0 0 0 0 5
COL6A3 0 1 4 0 0 5
CRTAP 0 0 0 0 5 5
CTSF 0 0 0 1 4 5
DCAF17 0 0 0 3 2 5
DOCK8 0 0 1 0 4 5
EPCAM 0 0 0 1 4 5
FGFR2 1 0 0 0 4 5
FLNC 0 1 4 0 0 5
GJB2 2 0 1 1 1 5
MRE11 0 0 1 1 3 5
PDGFB 0 0 1 2 3 5
PSEN1 1 0 0 2 2 5
PTPN11 2 0 0 1 2 5
RET 0 0 0 1 4 5
RHBDF2 0 0 0 2 3 5
TGFB2 0 0 0 0 5 5
TH 0 0 0 2 3 5
TP53 1 0 0 0 4 5
VPS54 0 0 0 3 2 5
WT1 0 0 0 3 2 5
ABCB11 0 0 0 0 4 4
ADAMTS18 0 0 0 0 4 4
ANKRD11 4 0 0 0 0 4
AOPEP, FANCC 0 0 0 2 2 4
ATP7A 0 0 1 0 3 4
ATXN2 0 0 0 3 1 4
B4GALT7 0 0 0 2 2 4
BARD1 0 0 0 2 2 4
BBS10 2 0 0 0 2 4
BMPR1A 0 0 0 0 4 4
C9orf72 0 0 0 2 2 4
CFTR 4 0 0 0 0 4
CHMP2B 0 0 0 1 3 4
CHST3 0 0 0 3 1 4
COL6A1 2 0 2 0 0 4
COL6A2 0 1 3 0 0 4
COMT 0 0 1 0 3 4
CTNNA1 0 0 0 2 2 4
DCTN1 0 0 0 3 1 4
DDX3X 3 1 0 0 0 4
DHFR, MSH3 0 0 0 0 4 4
DNAH5 3 0 1 0 0 4
ERCC4 0 0 0 1 3 4
FANCA 0 1 1 1 1 4
FANCC 1 0 0 0 3 4
FAS 0 0 0 2 2 4
FKBP10 0 0 0 2 2 4
GPC3 0 0 0 2 2 4
LOC126860794, NOTCH1 0 0 1 2 1 4
MEN1 0 0 0 3 1 4
MITF 0 1 0 2 1 4
NPC2 0 0 0 4 0 4
PINK1 0 0 0 1 3 4
PLEC 0 0 4 0 0 4
PMM2 4 0 0 0 0 4
PPT1 0 0 0 3 1 4
PRKN 0 0 1 1 2 4
PYGM 3 0 1 0 0 4
RAD51C 0 0 0 1 3 4
RNF43 0 0 0 0 4 4
SBDS 2 0 0 0 2 4
SYNGAP1 3 0 1 0 0 4
TARDBP 0 1 0 2 1 4
TRIM37 0 0 0 1 3 4
TTC8 0 0 0 1 3 4
TYROBP 0 0 0 2 2 4
ABCA4 2 1 0 0 0 3
ALG6 2 1 0 0 0 3
APP 0 0 0 1 2 3
ARL6 0 0 0 1 2 3
ARSA 1 2 0 0 0 3
B3GAT3 1 0 0 1 1 3
BAG3 0 0 3 0 0 3
BMP1 0 0 0 1 2 3
BRAF 3 0 0 0 0 3
BRCA2 0 0 0 3 0 3
C1S 1 0 0 1 1 3
CDKN1A 0 0 1 2 0 3
CEBPA 0 0 0 3 0 3
CLN5, LOC130009913 0 0 0 1 2 3
COASY 0 0 0 1 2 3
COL18A1 0 0 0 0 3 3
COL4A1 1 0 2 0 0 3
CREB3L1 0 0 0 0 3 3
DHCR7 3 0 0 0 0 3
DYNC1H1 1 0 2 0 0 3
ELANE 0 0 0 1 2 3
ENG, LOC102723566 0 0 0 1 2 3
EPHB2 0 0 0 1 2 3
EYS 3 0 0 0 0 3
FAN1 0 0 1 1 1 3
FAN1, MTMR10 0 0 0 1 2 3
FANCA, ZNF276 0 0 0 0 3 3
FANCB 0 0 0 2 1 3
FANCG, VCP 0 0 0 0 3 3
FANCI, POLG, POLGARF 0 0 0 0 3 3
FLNA, LOC107988032 0 0 1 1 1 3
GAA 2 1 0 0 0 3
GBA1, LOC106627981 0 0 1 1 1 3
GORAB 0 0 0 0 3 3
HNRNPA2B1 0 0 0 1 2 3
IGHMBP2 1 0 2 0 0 3
IRS1 0 0 0 2 1 3
KMT2D 1 1 0 1 0 3
LDB3 0 0 3 0 0 3
LOC100507346, PTCH1 0 0 0 2 1 3
LOC106780803, TNXB 0 0 1 1 1 3
LOC126806791, MYLK 0 0 0 2 1 3
LTBP3 0 0 0 3 0 3
MECP2 3 0 0 0 0 3
MKKS 1 1 0 1 0 3
MYBPC3 3 0 0 0 0 3
MYH2, MYHAS 1 1 1 0 0 3
OPTN 0 0 0 1 2 3
P3H1 0 0 0 1 2 3
PAH 3 0 0 0 0 3
PDGFRA 0 0 0 2 1 3
PKHD1 2 1 0 0 0 3
PLOD2 0 0 0 0 3 3
POLH, POLR1C 0 0 1 0 2 3
RAD50 0 0 0 1 2 3
RAG1 2 1 0 0 0 3
RIN2 0 0 0 1 2 3
SATB2 2 1 0 0 0 3
SDHD 1 0 0 1 1 3
SEC24D 0 0 0 0 3 3
SIGMAR1 0 0 0 2 1 3
SLC26A2 0 0 0 0 3 3
SUFU 0 0 0 2 1 3
SYNE1 0 0 3 0 0 3
TMEM38B 0 0 0 1 2 3
TSEN54 1 0 2 0 0 3
VHL 0 0 0 2 1 3
VPS35 0 0 1 1 1 3
WFS1 3 0 0 0 0 3
XPC 1 0 0 0 2 3
ABCC6 2 0 0 0 0 2
ABHD12 2 0 0 0 0 2
ADA2 1 1 0 0 0 2
ADCY5 1 0 1 0 0 2
AIP, LOC130006206 0 0 0 1 1 2
ALDH3A2 2 0 0 0 0 2
AP4B1 1 1 0 0 0 2
ARID1B 1 0 1 0 0 2
ARMS2, HTRA1 0 0 0 0 2 2
ASTN2, TRIM32 0 0 0 2 0 2
ATRIP, ATRIP-TREX1, TREX1 0 1 1 0 0 2
ATXN2, LOC130008791 0 0 0 2 0 2
ATXN2, LOC130008792 0 0 0 0 2 2
ATXN3, LOC108663987 0 0 0 1 1 2
BMP4 0 0 0 1 1 2
BUB1B, BUB1B-PAK6 0 0 0 1 1 2
C1QTNF5, MFRP 1 1 0 0 0 2
CCDST, FLG 2 0 0 0 0 2
CDC73 0 0 1 0 1 2
CDK13 2 0 0 0 0 2
CDKN2A 0 0 0 2 0 2
CHAT 0 1 1 0 0 2
CHRNA1 0 1 1 0 0 2
CLN8 0 1 1 0 0 2
COQ2 0 0 0 0 2 2
CP, HPS3 0 0 0 1 1 2
CPT2 1 1 0 0 0 2
CREBBP 0 0 2 0 0 2
CSF1R, LOC111188154 0 0 0 1 1 2
CTC1 0 0 0 1 1 2
CTSD, PRADX 0 0 0 1 1 2
DKC1 0 0 0 2 0 2
DNAH11 2 0 0 0 0 2
DNAI1 2 0 0 0 0 2
DOCK6 1 0 1 0 0 2
DPYD 1 0 1 0 0 2
DSE 0 0 0 0 2 2
EXT2 0 0 0 1 1 2
FAH 0 0 0 1 1 2
FBLN5 0 0 0 0 2 2
FBN2, LOC126807501 0 0 0 0 2 2
FKRP 1 1 0 0 0 2
G6PD 2 0 0 0 0 2
GATA2 0 0 0 0 2 2
GBE1 1 0 1 0 0 2
GFPT1 0 2 0 0 0 2
GLI3 2 0 0 0 0 2
HUWE1 0 1 1 0 0 2
IFT74 0 0 0 1 1 2
ITK 0 0 0 0 2 2
KBTBD13 0 0 2 0 0 2
KIF1C 0 0 2 0 0 2
LAMA1 1 0 1 0 0 2
LIFR 0 0 0 0 2 2
LOC107372315, OSGEP 0 2 0 0 0 2
LOC108903148, OPTN 0 0 0 0 2 2
LOC124629354, PRPH, TROAP 0 0 0 1 1 2
LOC126859871, PRKN 0 0 0 0 2 2
LOC126860438, NBN 0 0 0 0 2 2
LOC126862264, MEFV 2 0 0 0 0 2
LOC129995449, SQSTM1 0 0 1 1 0 2
LOC130001681, SIGMAR1 0 0 0 1 1 2
LOC130002133, PTCH1 0 0 0 1 1 2
LOC130059891, SERPINF1 0 0 0 2 0 2
LOC130065345, PANK2 0 0 0 0 2 2
MCM9 0 0 0 0 2 2
MUSK 1 0 1 0 0 2
MVP-DT, PRRT2 2 0 0 0 0 2
NEB, RIF1 0 1 1 0 0 2
NIPBL 1 0 1 0 0 2
PARK7 0 0 0 0 2 2
PCDH19 2 0 0 0 0 2
PHKA1 0 0 2 0 0 2
PHOX2B 0 0 0 1 1 2
PLS3 1 0 0 1 0 2
POT1 0 0 0 1 1 2
PYCR1 1 0 0 0 1 2
RAD51D, RAD51L3-RFFL 0 0 1 0 1 2
RAF1 0 0 2 0 0 2
RB1 0 0 0 1 1 2
REEP1 2 0 0 0 0 2
SDHC 0 0 1 1 0 2
SLC18A2 0 0 0 0 2 2
SLC25A13 0 0 0 2 0 2
SLC2A1 1 1 0 0 0 2
SLC39A13 0 0 0 1 1 2
SNCA 0 0 0 2 0 2
SNCB 0 0 0 0 2 2
SP7 0 0 0 0 2 2
SPAST 1 1 0 0 0 2
SPG7 2 0 0 0 0 2
SPINK1 0 0 0 0 2 2
STXBP1 2 0 0 0 0 2
TAF1 0 0 0 2 0 2
TNFRSF13B 0 2 0 0 0 2
TPP1 1 1 0 0 0 2
TRPV4 0 0 2 0 0 2
TWIST1 0 0 0 2 0 2
UBQLN2 0 0 0 2 0 2
UCHL1 0 0 0 1 1 2
VWF 2 0 0 0 0 2
WAS 0 0 0 0 2 2
XPR1 0 0 0 2 0 2
XYLT1 0 0 1 0 1 2
AAAS 1 0 0 0 0 1
ACAN 1 0 0 0 0 1
ACTG1 0 0 0 1 0 1
ACYP1, NPC2 0 0 0 1 0 1
ADAMTS17, LOC130058037 0 0 0 0 1 1
ADAT3, SCAMP4 1 0 0 0 0 1
ADGRV1 0 0 1 0 0 1
ADNP 1 0 0 0 0 1
ADSL 1 0 0 0 0 1
AEBP1 0 0 0 1 0 1
AFG2A 1 0 0 0 0 1
AGPAT2 1 0 0 0 0 1
AHI1 0 1 0 0 0 1
AIP 0 0 0 1 0 1
ALDH18A1 0 0 0 0 1 1
ALDH7A1 1 0 0 0 0 1
ALDOB 1 0 0 0 0 1
ALX1, LOC124629423 0 0 0 1 0 1
ANG, EGILA, RNASE4 0 0 0 0 1 1
ANKRD26 0 0 0 0 1 1
AP4M1 1 0 0 0 0 1
APOB 1 0 0 0 0 1
APTX 1 0 0 0 0 1
AR 1 0 0 0 0 1
ARF1, LOC126806039 0 0 1 0 0 1
ASXL3 1 0 0 0 0 1
ATL1 0 1 0 0 0 1
ATP2A1 0 0 1 0 0 1
ATP6AP2 0 0 0 1 0 1
ATXN3 0 0 0 0 1 1
AXDND1, NPHS2 0 1 0 0 0 1
B3GALNT2 1 0 0 0 0 1
B3GALT6 0 0 0 1 0 1
B3GLCT 1 0 0 0 0 1
BBS1 0 0 0 1 0 1
BBS1, ZDHHC24 1 0 0 0 0 1
BBS5 1 0 0 0 0 1
BBS7 0 0 0 0 1 1
BEST1 1 0 0 0 0 1
BIVM-ERCC5, ERCC5, LOC126861834 1 0 0 0 0 1
BLK, LOC126860303 0 0 1 0 0 1
BRAT1 1 0 0 0 0 1
BRCA1 1 0 0 0 0 1
BRWD3 0 0 1 0 0 1
BSND 1 0 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
CACNA1A 1 0 0 0 0 1
CAMK1, OGG1 0 0 0 1 0 1
CAPN3 1 0 0 0 0 1
CARD11 0 0 1 0 0 1
CARD9 0 0 1 0 0 1
CBL, LOC130006895 0 0 0 0 1 1
CC2D2A 1 0 0 0 0 1
CCBE1 1 0 0 0 0 1
CCDC40 1 0 0 0 0 1
CDKN1B 0 0 0 1 0 1
CEP152 1 0 0 0 0 1
CEP41 0 0 1 0 0 1
CFHR5 0 0 1 0 0 1
CFP 0 0 1 0 0 1
CHD3, NAA38 0 0 0 0 1 1
CHRNB1 0 0 1 0 0 1
CHROMR, PRKRA 0 0 0 1 0 1
CHST14 0 0 0 1 0 1
CIB2 1 0 0 0 0 1
CLCN1 0 1 0 0 0 1
CNGA3 1 0 0 0 0 1
CNGB3 1 0 0 0 0 1
COCH, LOC100506071 1 0 0 0 0 1
COL12A1, LOC126859712 0 0 0 1 0 1
COL17A1 1 0 0 0 0 1
COL4A2 0 1 0 0 0 1
COL4A4 1 0 0 0 0 1
COL9A3, LOC126863084 0 0 0 0 1 1
COQ2, LOC112997540 0 0 0 0 1 1
COQ8A 1 0 0 0 0 1
CRB2 1 0 0 0 0 1
CRTAP, LOC129936436 1 0 0 0 0 1
CRYBA1 0 1 0 0 0 1
CSNK2A1 1 0 0 0 0 1
CTNNB1 0 0 1 0 0 1
CTSD, LOC130005119 0 0 0 1 0 1
CUBN 0 0 1 0 0 1
CUL7 0 1 0 0 0 1
CYP17A1 0 1 0 0 0 1
CYP1B1 0 0 1 0 0 1
CYP21A2, LOC106780800 1 0 0 0 0 1
CYP27A1 0 0 1 0 0 1
DCT 0 0 1 0 0 1
DDB2, LOC126861205 0 0 0 0 1 1
DDHD2 0 0 1 0 0 1
DDOST, PINK1 0 0 0 0 1 1
DEPDC5 1 0 0 0 0 1
DES 0 0 1 0 0 1
DNAAF1 0 1 0 0 0 1
DNAAF3 1 0 0 0 0 1
DNAH8 0 0 1 0 0 1
DNM1L 0 1 0 0 0 1
DPYSL5 0 0 1 0 0 1
DSPP 1 0 0 0 0 1
DYNC1H1, LOC126862060 0 0 1 0 0 1
DYNC2H1 1 0 0 0 0 1
ECEL1 1 0 0 0 0 1
ECHS1 0 0 1 0 0 1
EEF1A2 0 1 0 0 0 1
EFEMP2, MUS81 0 0 0 0 1 1
EFTUD2 1 0 0 0 0 1
EGFR 0 0 0 1 0 1
EHMT1 1 0 0 0 0 1
EIF3F 0 1 0 0 0 1
EPHA8 0 0 1 0 0 1
ERCC3 0 0 1 0 0 1
ERCC8 1 0 0 0 0 1
EXT1 0 0 0 1 0 1
EYA1 1 0 0 0 0 1
FAH, LOC112272621 0 0 0 0 1 1
FANCD2 0 0 0 0 1 1
FANCD2, FANCD2OS 0 0 0 0 1 1
FANCE 0 0 0 0 1 1
FANCF 0 0 0 0 1 1
FANCF, LOC130005443 0 0 0 0 1 1
FANCG 0 0 0 0 1 1
FANCL, VRK2 0 0 1 0 0 1
FAT4 0 0 1 0 0 1
FBN1, LOC113939944 0 0 0 0 1 1
FBN1, LOC130057019 0 0 0 1 0 1
FGD1 0 0 1 0 0 1
FGF12 1 0 0 0 0 1
FKBP14 1 0 0 0 0 1
FKTN 1 0 0 0 0 1
FLG 1 0 0 0 0 1
FLNB, LOC129936935 0 0 0 1 0 1
FLT4 1 0 0 0 0 1
FNIP1 0 0 1 0 0 1
FOXE3, LINC01389 0 0 0 0 1 1
FOXP1 0 1 0 0 0 1
FRAS1 1 0 0 0 0 1
FTL, GYS1 0 0 0 0 1 1
FXN, LOC130001862 1 0 0 0 0 1
G6PC1 1 0 0 0 0 1
GABRA1 1 0 0 0 0 1
GABRG2 1 0 0 0 0 1
GALT 1 0 0 0 0 1
GAN 0 0 1 0 0 1
GDAP1 1 0 0 0 0 1
GFAP 0 0 1 0 0 1
GH-LCR, SCN4A 0 0 1 0 0 1
GJA1 0 1 0 0 0 1
GJA8 0 0 1 0 0 1
GLDC 0 1 0 0 0 1
GNAI2 0 0 1 0 0 1
GNAS 0 1 0 0 0 1
GNB5 1 0 0 0 0 1
GPSM2 1 0 0 0 0 1
GREM1 0 0 0 1 0 1
GRIN2B 1 0 0 0 0 1
GRN, LOC125177489 0 0 0 1 0 1
H4C5, LOC129996027 0 0 1 0 0 1
HAS3 0 0 1 0 0 1
HERC2 0 0 1 0 0 1
HEY2 0 0 0 0 1 1
HFE 0 0 0 1 0 1
HMBS 0 0 0 1 0 1
HNF1A 1 0 0 0 0 1
HNF4A 1 0 0 0 0 1
HNRNPA1 0 0 0 1 0 1
HNRNPA1, LOC117038776 0 0 0 1 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HOXB13 1 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 1
HSD17B4, LOC129994460 0 1 0 0 0 1
HSF4 0 0 1 0 0 1
HSPG2 0 0 1 0 0 1
HTT 0 0 1 0 0 1
HYDIN 0 0 1 0 0 1
IDUA, SLC26A1 1 0 0 0 0 1
IFIH1 1 0 0 0 0 1
IFITM5 0 0 0 0 1 1
IL17F 0 0 1 0 0 1
IL1RN 1 0 0 0 0 1
INS, TH 0 0 0 1 0 1
IRF2BPL 1 0 0 0 0 1
ITM2B, LOC130009751 0 0 0 1 0 1
JAG1 0 0 1 0 0 1
KCNB1 0 1 0 0 0 1
KCNC3 1 0 0 0 0 1
KCNJ11 0 0 1 0 0 1
KCNQ1 0 0 1 0 0 1
KCNQ2 1 0 0 0 0 1
KCNQ3 1 0 0 0 0 1
KDELR2, LOC129997936 0 0 1 0 0 1
KDM5C 0 1 0 0 0 1
KDM6A 0 0 1 0 0 1
KIF1A 0 0 1 0 0 1
KIF5A 0 0 1 0 0 1
KLLN, PTEN 0 0 1 0 0 1
KMT2A 1 0 0 0 0 1
KMT2B 0 0 1 0 0 1
KRAS 1 0 0 0 0 1
LAMA2 1 0 0 0 0 1
LAMB4 0 0 0 0 1 1
LAMC3, LOC126860777 0 0 0 1 0 1
LARGE1 0 0 1 0 0 1
LDB3, LOC110121486 0 0 1 0 0 1
LDLR, MIR6886 1 0 0 0 0 1
LEP 0 0 1 0 0 1
LHX3 0 0 1 0 0 1
LIPA 1 0 0 0 0 1
LITAF 0 0 1 0 0 1
LMNA 0 0 1 0 0 1
LMOD1 0 0 0 0 1 1
LOC102724058, SCN1A 1 0 0 0 0 1
LOC107303340, VHL 0 0 0 1 0 1
LOC107982234, WT1 0 0 0 0 1 1
LOC110011216, PHOX2B 0 0 0 1 0 1
LOC126806423, TTN 0 0 1 0 0 1
LOC126806425, TTN 0 0 1 0 0 1
LOC126806426, TTN 1 0 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 1
LOC126859836, SYNE1 0 0 1 0 0 1
LOC126860782, SETX 0 0 0 1 0 1
LOC126861339, SDHD 0 0 0 0 1 1
LOC126861368, SORL1 0 0 0 1 0 1
LOC126861896, MYH6 0 0 1 0 0 1
LOC126863256, WDR45 0 0 0 0 1 1
LOC129997480, SYNE1 0 0 1 0 0 1
LOC130001411, RECQL4 0 0 0 0 1 1
LOC130002223, TGFBR1 0 0 0 1 0 1
LOC130004614, SUFU 1 0 0 0 0 1
LOC130006953, SORL1 0 0 0 0 1 1
LOC130009266, POLE 0 0 0 1 0 1
LOC130055850, MAX 0 0 0 1 0 1
LOC130059718, ZNF469 0 0 0 0 1 1
LOC130060903, NAGLU 1 0 0 0 0 1
LOC130061310, RAD51C 0 0 0 1 0 1
LOC130062899, STK11 0 0 0 0 1 1
LOC130068339, UBQLN2 0 0 0 1 0 1
LOX, SRFBP1 0 0 0 0 1 1
LRBA 0 0 1 0 0 1
LRP2 0 0 0 0 1 1
LRRC8A 0 0 1 0 0 1
MAGEL2 1 0 0 0 0 1
MAP2K1 1 0 0 0 0 1
MAP3K7 1 0 0 0 0 1
MAP3K8 0 0 0 0 1 1
MAT2A 0 0 0 1 0 1
MAX 0 0 0 1 0 1
MBD4 0 0 0 0 1 1
MBTPS2 0 0 0 0 1 1
MCFD2 1 0 0 0 0 1
MCHR1 0 0 1 0 0 1
MCOLN1 0 1 0 0 0 1
METTL23 0 1 0 0 0 1
MFAP5 0 0 0 0 1 1
MICU1 1 0 0 0 0 1
MIR6084, PINK1 0 0 0 0 1 1
MKS1 0 1 0 0 0 1
MLH3 0 0 0 0 1 1
MMACHC 0 1 0 0 0 1
MOCS1 1 0 0 0 0 1
MTHFR 0 0 1 0 0 1
MUTYH, TOE1 0 0 0 0 1 1
MVK 1 0 0 0 0 1
MYCN, MYCNOS 1 0 0 0 0 1
MYH7 0 1 0 0 0 1
MYO5B 0 0 1 0 0 1
MYORG 0 0 0 0 1 1
MYOT, PKD2L2-DT 0 0 1 0 0 1
NAGLU 1 0 0 0 0 1
NDP 0 1 0 0 0 1
NDUFS4 1 0 0 0 0 1
NDUFS7 1 0 0 0 0 1
NLGN3 0 0 1 0 0 1
NLGN4X 0 0 1 0 0 1
NPHP3, NPHP3-ACAD11 1 0 0 0 0 1
NPR2 0 0 1 0 0 1
NSD1 0 1 0 0 0 1
NTHL1 0 1 0 0 0 1
OCA2 1 0 0 0 0 1
ODAD1 1 0 0 0 0 1
ODAD2 1 0 0 0 0 1
OGG1 0 0 1 0 0 1
ORC6 0 1 0 0 0 1
OTOGL 1 0 0 0 0 1
PACS1 1 0 0 0 0 1
PANK2 0 0 0 1 0 1
PAX5 0 0 0 0 1 1
PAX6 0 0 0 0 1 1
PCCA 0 1 0 0 0 1
PCCB 0 0 1 0 0 1
PCNT 1 0 0 0 0 1
PDHX 0 0 1 0 0 1
PDSS1 0 0 0 1 0 1
PEX1 1 0 0 0 0 1
PEX7 1 0 0 0 0 1
PFN1 0 0 0 0 1 1
PIGG 0 1 0 0 0 1
PIGN 0 0 1 0 0 1
PIK3CD 1 0 0 0 0 1
PJVK, PRKRA 0 0 0 1 0 1
PLEKHG5 0 0 1 0 0 1
PLG 0 0 1 0 0 1
PLOD3 0 0 0 1 0 1
PNPLA1 0 1 0 0 0 1
POLR3B 1 0 0 0 0 1
POMGNT1, TSPAN1 1 0 0 0 0 1
PRDM10 0 0 1 0 0 1
PRDM5 0 0 0 0 1 1
PRKAR1A 0 0 0 0 1 1
PRKRA 0 0 0 0 1 1
PROK2 1 0 0 0 0 1
PRPF31 1 0 0 0 0 1
PRX 0 0 1 0 0 1
PSENEN 0 0 0 0 1 1
PTBP1 0 0 1 0 0 1
PTCHD3 0 0 0 1 0 1
PTPRJ 0 0 0 1 0 1
RAB27A 0 1 0 0 0 1
RAD50, TH2LCRR 0 0 0 0 1 1
RANBP2 1 0 0 0 0 1
RAPSN 1 0 0 0 0 1
RARS2 0 0 1 0 0 1
REST 0 0 0 1 0 1
RIPPLY2, RIPPLY2-CYB5R4 1 0 0 0 0 1
RNASEH2A 0 1 0 0 0 1
RNASEH2B 1 0 0 0 0 1
ROBO3 1 0 0 0 0 1
RSPH4A 0 0 1 0 0 1
RUNX1 0 0 0 0 1 1
S100PBP, YARS1 0 0 1 0 0 1
SACS 1 0 0 0 0 1
SAR1B 1 0 0 0 0 1
SCN1A 1 0 0 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCNN1A 1 0 0 0 0 1
SDHAF2 0 0 0 1 0 1
SELENON 0 0 1 0 0 1
SEPTIN9 0 0 1 0 0 1
SERPINA1 1 0 0 0 0 1
SERPINF1 0 0 0 0 1 1
SETBP1 1 0 0 0 0 1
SHANK2 0 0 1 0 0 1
SKIC3 0 0 1 0 0 1
SLC24A1 0 0 1 0 0 1
SLC26A4 0 0 1 0 0 1
SLC30A10 0 0 0 1 0 1
SLC3A1 1 0 0 0 0 1
SLC6A1 0 1 0 0 0 1
SLC6A19 0 1 0 0 0 1
SLC6A8 1 0 0 0 0 1
SMARCAL1 1 0 0 0 0 1
SMARCB1 0 0 0 0 1 1
SMPD1 0 0 1 0 0 1
SOD1 0 0 0 1 0 1
SOD1, SOD1-DT 0 0 0 1 0 1
SOX5 0 1 0 0 0 1
SRCAP 1 0 0 0 0 1
SRD5A2 1 0 0 0 0 1
SRGAP3 0 0 1 0 0 1
SUOX 0 0 0 0 1 1
TAPT1 0 0 0 0 1 1
TCAP 0 0 1 0 0 1
TENT5A 0 0 0 0 1 1
TFE3 1 0 0 0 0 1
TGM1 1 0 0 0 0 1
THG1L 0 0 1 0 0 1
TK2 0 1 0 0 0 1
TMEM106B 0 1 0 0 0 1
TMEM126B 0 0 1 0 0 1
TMEM127 0 0 0 0 1 1
TMPRSS3 1 0 0 0 0 1
TMX2, TMX2-CTNND1 0 0 1 0 0 1
TNNC1 0 0 1 0 0 1
TNR 0 0 0 1 0 1
TRAPPC11 0 1 0 0 0 1
TRIM22 0 0 1 0 0 1
TRIO 0 0 1 0 0 1
TTBK2 0 0 1 0 0 1
TTC21B 1 0 0 0 0 1
TUBA1A 1 0 0 0 0 1
TUBB3 0 1 0 0 0 1
UBAP1 0 0 0 1 0 1
UNC13A 0 1 0 0 0 1
UROD 0 0 0 0 1 1
USH2A 1 0 0 0 0 1
VAPB 0 0 0 1 0 1
VPS13B 0 0 0 1 0 1
VSX2 0 0 0 0 1 1
WAC 1 0 0 0 0 1
WNT10A 1 0 0 0 0 1
XYLT2 0 0 0 0 1 1
ZBTB20 0 1 0 0 0 1
ZC4H2 1 0 0 0 0 1
ZSWIM6 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 81
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 359 93 313 1125 0 1890
not specified 0 0 0 0 1437 1437
Aortic aneurysm, familial thoracic 4 0 0 1 18 11 30
Niemann-Pick disease, type C1 0 1 0 18 9 28
Congenital contractural arachnodactyly 0 0 0 5 19 24
Ataxia-telangiectasia syndrome 0 0 0 6 13 19
Brittle cornea syndrome 1 0 0 0 1 18 19
Bardet-Biedl syndrome 1 0 0 0 4 13 17
Hereditary spastic paraplegia 11 0 0 0 13 4 17
Lynch syndrome 1 1 0 1 4 9 15
Lynch syndrome 4 0 0 0 4 11 15
Xeroderma pigmentosum, group G 1 0 1 5 6 13
Ehlers-Danlos syndrome, dermatosparaxis type 0 0 0 0 10 10
Lynch syndrome 5 0 0 1 5 4 10
Neuronal ceroid lipofuscinosis 10 0 0 0 6 4 10
Amyotrophic lateral sclerosis type 1 0 0 0 2 6 8
Hereditary diffuse leukoencephalopathy with spheroids 0 0 0 3 5 8
Idiopathic basal ganglia calcification 1 0 0 0 8 0 8
Neuroblastoma, susceptibility to, 3 0 0 0 2 6 8
Spinocerebellar ataxia type 2 0 0 0 5 3 8
Knobloch syndrome 0 0 0 0 7 7
Cutis laxa, autosomal recessive, type 1B 0 0 0 3 3 6
Glaucoma 1, open angle, P 0 0 0 4 2 6
Paget disease of bone 2, early-onset 0 0 0 4 2 6
Parkinson disease 11, autosomal dominant, susceptibility to 0 0 0 2 4 6
Arterial tortuosity syndrome 0 0 0 3 2 5
Autosomal recessive DOPA responsive dystonia 0 0 0 2 3 5
Classic dopamine transporter deficiency syndrome 0 0 0 2 3 5
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 0 0 5 5
Parkinsonian-pyramidal syndrome 0 0 0 2 3 5
Classic homocystinuria 0 0 0 2 2 4
Hereditary spastic paraplegia 35 0 0 0 1 3 4
Neuronal ceroid lipofuscinosis 13 0 0 0 0 4 4
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 1 0 0 3 0 4
Telangiectasia, hereditary hemorrhagic, type 2 0 0 0 1 3 4
Wagner syndrome 0 0 0 0 4 4
Autoimmune lymphoproliferative syndrome type 1 0 0 0 1 2 3
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 0 3 0 3
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 0 0 3 3
Dermatofibrosarcoma protuberans 0 0 1 1 1 3
Ehlers-Danlos syndrome progeroid type 0 0 0 1 2 3
Type 2 diabetes mellitus 0 0 0 2 1 3
Van den Ende-Gupta syndrome 0 0 0 0 3 3
Amyotrophic lateral sclerosis type 10 0 0 0 1 1 2
Ataxia-telangiectasia-like disorder 1 0 0 0 1 1 2
Loeys-Dietz syndrome 4 0 0 0 0 2 2
Lymphoproliferative syndrome 1 0 0 0 0 2 2
Neurodegeneration with brain iron accumulation 4 0 0 0 1 1 2
Osteogenesis imperfecta type 12 0 0 0 0 2 2
PMM2-congenital disorder of glycosylation 2 0 0 0 0 2
Shwachman-Diamond syndrome 1 0 0 0 0 2 2
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 0 0 1 1 2
Xeroderma pigmentosum variant type 0 0 1 0 1 2
ALDH18A1-related de Barsy syndrome 0 0 0 0 1 1
Acne inversa, familial, 2 0 0 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 84B 1 0 0 0 0 1
Autosomal recessive polycystic kidney disease 1 0 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 0 1
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 0 0 1 0 1
Dystonia 16 0 0 0 0 1 1
Fanconi anemia complementation group A 0 0 0 0 1 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 0 1
Hereditary spastic paraplegia 4 1 0 0 0 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 0 0 0 0 1 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 0 0 0 1
Imerslund-Grasbeck syndrome 0 0 1 0 0 1
Isolated cleft palate 1 0 0 0 0 1
KBG syndrome 1 0 0 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 0 1
Multiple endocrine neoplasia type 4 0 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 1 0 0 0 0 1
Nijmegen breakage syndrome-like disorder 0 0 0 1 0 1
Nonpapillary renal cell carcinoma 0 0 0 1 0 1
Osteogenesis imperfecta type 5 0 0 0 0 1 1
Parkinson disease 5, autosomal dominant, susceptibility to 0 0 0 0 1 1
Phenylketonuria 1 0 0 0 0 1
Pyridoxine-dependent epilepsy 1 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 1
Sulfite oxidase deficiency 0 0 0 0 1 1
Weill-Marchesani syndrome 1 0 0 0 0 1 1

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