ClinVar Miner

Variants from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

Location: Germany  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
484 256 2240 117 54 3151

Gene and significance breakdown #

Total genes and gene combinations: 935
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 45 4 48 3 19 119
APC 4 1 54 7 3 69
BRCA1 35 3 19 1 2 60
ATM 7 1 38 5 1 52
SLX4 1 1 49 0 1 52
RECQL4 0 0 47 1 1 49
MSH6 7 1 35 3 1 47
TSC2 2 0 32 8 0 42
NF1 11 2 24 3 0 40
POLE 1 1 37 0 0 39
CHEK2 6 7 22 1 1 37
FANCM 2 0 33 1 0 36
FANCA 2 3 26 2 0 33
PALB2 7 2 19 3 0 31
BRIP1 3 2 21 4 0 30
MLH1 11 1 13 4 1 30
ATM, C11orf65 4 2 21 1 0 28
ERCC2 4 1 22 1 0 28
PMS2 1 1 22 2 1 27
BLM 2 1 21 1 1 26
MUTYH 4 2 18 1 0 25
TP53 12 4 6 1 2 25
BARD1 4 3 15 2 0 24
ERCC4 0 0 22 1 0 23
MSH2 7 2 12 0 2 23
BIVM-ERCC5, ERCC5 0 0 20 2 0 22
DICER1 0 0 22 0 0 22
KIF1B 0 0 21 0 0 21
CDH1 1 0 15 3 1 20
NSD1 2 0 17 0 0 19
RET 2 0 16 1 0 19
FANCI 0 0 18 0 0 18
POLD1 0 0 16 2 0 18
RAD51C 3 1 10 4 0 18
LZTR1 3 3 11 0 0 17
MET 0 0 17 0 0 17
SMARCA4 0 0 15 2 0 17
TSC1 0 0 14 3 0 17
WRN 2 0 14 0 1 17
FLCN 3 0 12 1 0 16
KIT 0 0 16 0 0 16
MSH3 2 0 13 1 0 16
NBN 3 0 12 0 1 16
SDHA 2 3 11 0 0 16
FANCD2, LOC107303338 0 0 14 0 1 15
ERCC3 0 0 14 0 0 14
PTCH1 0 1 12 1 0 14
XPC 2 0 12 0 0 14
BAP1 0 0 13 0 0 13
EGFR 0 0 13 0 0 13
FANCE 1 0 9 3 0 13
ALK 0 0 10 0 1 11
FANCA, ZNF276 2 1 8 0 0 11
GALNT12 0 1 9 0 1 11
RAD50 1 0 10 0 0 11
RHBDF2 0 0 10 1 0 11
DIS3L2 0 0 8 1 1 10
FANCG 1 0 9 0 0 10
MRE11 0 1 9 0 0 10
RINT1 0 0 10 0 0 10
AOPEP, FANCC 0 0 8 0 1 9
EXT2 0 2 7 0 0 9
FANCB 0 0 8 1 0 9
FANCF 0 0 9 0 0 9
FH 1 1 7 0 0 9
MEN1 0 0 7 2 0 9
PDGFRA 0 0 9 0 0 9
RAD51D, RAD51L3-RFFL 2 2 4 1 0 9
RB1 3 0 4 2 0 9
RNF43 0 2 7 0 0 9
TERT 0 0 9 0 0 9
XPA 1 0 8 0 0 9
AIP 0 0 8 0 0 8
BRCA1, LOC126862571 7 0 0 0 1 8
DDB2 1 1 5 1 0 8
DMD 2 0 6 0 0 8
NTHL1 1 2 5 0 0 8
AUTS2 1 0 6 0 0 7
BUB1B 0 0 7 0 0 7
CASR 1 0 6 0 0 7
COL7A1 2 1 4 0 0 7
ERBB2 0 0 7 0 0 7
FBN1 1 2 4 0 0 7
PTEN 1 1 3 2 0 7
RYR1 1 2 4 0 0 7
SDHB 1 2 3 1 0 7
SMAD4 1 0 6 0 0 7
SUFU 0 0 7 0 0 7
VPS13B 2 1 4 0 0 7
BMPR1A 0 0 6 0 0 6
CDKN2A 0 0 5 0 1 6
CFTR 3 1 2 0 0 6
COL3A1 3 2 1 0 0 6
LOC100507346, PTCH1 0 0 5 1 0 6
MITF 0 0 6 0 0 6
NF2 0 0 6 0 0 6
POLG 2 3 1 0 0 6
SCN2A 1 3 2 0 0 6
SCN8A 0 2 4 0 0 6
ACD 0 0 5 0 0 5
ARID1B 2 1 1 1 0 5
AXIN2 0 0 4 1 0 5
CDH23 0 1 3 0 1 5
CEBPA 0 0 4 0 1 5
DEPDC5 1 0 4 0 0 5
EPCAM 0 0 4 1 0 5
ERCC1 0 0 5 0 0 5
EXT1 1 0 3 1 0 5
GATA2 0 0 5 0 0 5
GRIN2A 0 1 4 0 0 5
IFIH1 1 1 3 0 0 5
LOC107982234, WT1 0 0 5 0 0 5
MLH3 0 0 5 0 0 5
SDHC 0 0 4 1 0 5
SETD1A 0 1 4 0 0 5
SPG11 1 2 2 0 0 5
TAF2 0 1 4 0 0 5
ANKRD11 2 1 1 0 0 4
ATP7B 2 2 0 0 0 4
BRWD3 0 1 3 0 0 4
CD36 2 0 2 0 0 4
CDKN1B 0 0 4 0 0 4
CHD3 1 2 1 0 0 4
CHD7 2 1 1 0 0 4
DHFR, MSH3 0 0 3 1 0 4
DLST 0 0 4 0 0 4
DNAH9 0 0 4 0 0 4
DYNC1H1 0 1 3 0 0 4
EPG5 0 2 2 0 0 4
FANCC 0 0 4 0 0 4
FANCL 1 0 3 0 0 4
FGFR3 2 0 2 0 0 4
GALC 0 2 2 0 0 4
KMT2B 0 1 3 0 0 4
LDLR 2 2 0 0 0 4
LOC107303340, VHL 2 0 2 0 0 4
MAGEL2 0 0 3 1 0 4
MED13L 1 1 2 0 0 4
NLRP1 0 0 4 0 0 4
NOTCH1 0 0 4 0 0 4
OFD1 0 0 4 0 0 4
PHOX2B 0 0 4 0 0 4
PIK3R2 0 0 4 0 0 4
PLCG2 0 0 4 0 0 4
POLR3B 2 2 0 0 0 4
PRF1 0 0 4 0 0 4
PRKN 0 0 4 0 0 4
RELN 0 1 3 0 0 4
TBR1 0 2 2 0 0 4
TCF4 1 1 2 0 0 4
VHL 1 0 2 1 0 4
ABCA4 1 0 2 0 0 3
ADAMTSL2 0 0 2 1 0 3
AKT1 0 0 2 1 0 3
APOB 1 0 2 0 0 3
ARID1A 0 0 3 0 0 3
BRAF 0 1 2 0 0 3
CASP10 0 0 3 0 0 3
CDK4 0 0 3 0 0 3
CFH 0 0 3 0 0 3
CNOT3 0 2 1 0 0 3
COL4A1 0 1 2 0 0 3
COL5A1 0 1 1 1 0 3
CTRC 0 0 3 0 0 3
CUBN 0 0 3 0 0 3
DSP 0 0 3 0 0 3
EBF3 1 0 2 0 0 3
ERCC4, LOC130058543 0 0 3 0 0 3
FANCA, LOC112486223 0 0 3 0 0 3
FANCE, LOC129996245 0 0 3 0 0 3
FBXL4 0 1 2 0 0 3
FGFR1 0 0 3 0 0 3
FOXP1 1 2 0 0 0 3
FRMPD4 0 1 2 0 0 3
GNAO1 1 1 1 0 0 3
GPC3 0 0 3 0 0 3
GRIN1 0 0 3 0 0 3
GRIN2D 0 0 3 0 0 3
HNF1A 0 0 3 0 0 3
HOXB13 0 1 2 0 0 3
INSL6, JAK2 0 0 3 0 0 3
KAT6A 1 1 1 0 0 3
KCNQ1 0 1 2 0 0 3
KCNQ5, KCNQ5-DT, LOC129996711 0 0 3 0 0 3
KIF1A 1 1 1 0 0 3
LOC102724058, SCN1A 1 1 1 0 0 3
LOC130002133, PTCH1 0 0 2 0 1 3
LOC130004614, SUFU 0 0 3 0 0 3
LONP1 0 0 3 0 0 3
LOXHD1 1 0 1 1 0 3
MDH2 0 0 3 0 0 3
NEXMIF 1 0 2 0 0 3
NOD2 0 0 3 0 0 3
NSD2 0 2 1 0 0 3
PAH 1 0 2 0 0 3
PCNT 0 0 3 0 0 3
PIGO 0 0 3 0 0 3
PIK3CA 0 2 1 0 0 3
PRMT7 2 0 1 0 0 3
PRPH2 1 2 0 0 0 3
PUM1 0 1 2 0 0 3
RAB3GAP2 1 2 0 0 0 3
RAD50, TH2LCRR 0 0 3 0 0 3
RUNX1 0 0 3 0 0 3
RYR2 0 1 2 0 0 3
SAMD9L 1 0 2 0 0 3
SCN1A 0 2 1 0 0 3
SDHAF2 0 0 2 1 0 3
SIN3A 1 0 2 0 0 3
SMPD1 0 0 3 0 0 3
STK11 0 0 2 1 0 3
TAOK1 1 0 2 0 0 3
TNFAIP3 0 1 2 0 0 3
TRIOBP 0 0 2 1 0 3
WNT10A 1 0 2 0 0 3
XRCC2 0 0 3 0 0 3
ZDHHC9 0 2 1 0 0 3
ABCA2 0 0 2 0 0 2
ABCA3 0 0 2 0 0 2
ABCA7 0 0 2 0 0 2
ABCC8 0 1 1 0 0 2
ABCG8 0 1 1 0 0 2
ACADM 2 0 0 0 0 2
ACADS 1 0 0 0 1 2
ACAT1 0 1 1 0 0 2
ACTB 2 0 0 0 0 2
ACTC1, GJD2-DT 0 0 2 0 0 2
ACVRL1 2 0 0 0 0 2
ADAMTSL4 2 0 0 0 0 2
ALG1 0 0 2 0 0 2
ALG2 0 0 2 0 0 2
AMPD3 0 0 2 0 0 2
ANK2 0 0 2 0 0 2
ANK3 0 0 2 0 0 2
APC2 0 0 2 0 0 2
ARID2 0 0 2 0 0 2
ARMC5 1 0 1 0 0 2
ARSA 1 0 1 0 0 2
ASPM 1 0 1 0 0 2
ASXL3 0 1 1 0 0 2
ATL1 0 0 2 0 0 2
ATN1, LOC109461484 0 0 2 0 0 2
ATP1A2 0 1 1 0 0 2
ATP1A3 1 0 1 0 0 2
ATP7A 2 0 0 0 0 2
ATRIP, ATRIP-TREX1, TREX1 2 0 0 0 0 2
BCS1L 1 0 1 0 0 2
BICD2 0 0 2 0 0 2
BICRA 0 0 2 0 0 2
BIVM-ERCC5, ERCC5, LOC126861834 0 0 2 0 0 2
BLTP1 0 0 2 0 0 2
BRAT1 1 1 0 0 0 2
BRF1 0 0 2 0 0 2
BTD 2 0 0 0 0 2
BUB1B, BUB1B-PAK6 0 0 2 0 0 2
CACNA1A 0 0 2 0 0 2
CAPN3 0 1 1 0 0 2
CASK 0 1 1 0 0 2
CAST, LOC101929710, PCSK1 0 1 1 0 0 2
CBS 2 0 0 0 0 2
CCDC40 1 0 1 0 0 2
CCDC88C 0 0 2 0 0 2
CCDST, FLG 1 0 1 0 0 2
CDH15 0 0 2 0 0 2
CDK13 0 0 2 0 0 2
CDKL5 0 0 2 0 0 2
CENPF 2 0 0 0 0 2
CEP290 2 0 0 0 0 2
CHD2 1 1 0 0 0 2
CHD5 0 0 2 0 0 2
CLASP1, RNU4ATAC 2 0 0 0 0 2
CLTC 0 0 2 0 0 2
COL2A1 1 0 1 0 0 2
COL5A2 0 0 2 0 0 2
COL6A2 0 0 1 1 0 2
COL6A3 0 1 1 0 0 2
CTNNA1 0 1 1 0 0 2
CYP21A2, LOC106780800 2 0 0 0 0 2
DAG1 0 1 1 0 0 2
DLG3 1 0 1 0 0 2
DNAH5 1 0 1 0 0 2
DOCK6 2 0 0 0 0 2
DSG1 0 0 2 0 0 2
EFHC1 0 0 2 0 0 2
EHMT1 2 0 0 0 0 2
ELAC2 0 0 2 0 0 2
ENTPD1 0 0 2 0 0 2
EP300 1 1 0 0 0 2
EPHB4 0 0 2 0 0 2
EZH2 0 0 2 0 0 2
FANCD2 0 0 2 0 0 2
FANCD2, FANCD2OS 0 0 2 0 0 2
FARS2 0 0 2 0 0 2
FAS 1 1 0 0 0 2
FAT2, SLC36A1 0 0 2 0 0 2
FAT4 0 0 2 0 0 2
FBXO11, LOC100506235 0 0 2 0 0 2
FLNA 0 1 1 0 0 2
FTCD 1 0 1 0 0 2
G6PD 2 0 0 0 0 2
GJB2 2 0 0 0 0 2
GLI2 1 0 1 0 0 2
GRIA4 0 0 2 0 0 2
HCN1 1 0 1 0 0 2
HCN2 0 0 2 0 0 2
HK1 1 0 1 0 0 2
IDS, LOC106050102 0 0 2 0 0 2
IQSEC2 0 0 2 0 0 2
IRAK1BP1, PHIP 0 0 2 0 0 2
IRF6 0 0 2 0 0 2
ITSN1 0 1 1 0 0 2
KCNB1 1 0 1 0 0 2
KCND3 0 0 2 0 0 2
KCNT1 1 0 1 0 0 2
KDM5B 2 0 0 0 0 2
KDM6B 1 0 1 0 0 2
KIF1B, LOC126805614 0 0 2 0 0 2
KIF21A 1 0 1 0 0 2
KMT2A 0 1 1 0 0 2
KMT2C 0 1 1 0 0 2
KMT2D 1 0 1 0 0 2
LAMB1 1 0 1 0 0 2
LNPK 0 0 2 0 0 2
LOC126860342, WRN 0 0 1 1 0 2
LOC126861339, SDHD 1 0 0 1 0 2
LOC130009266, POLE 0 0 2 0 0 2
LOC130055850, MAX 0 0 2 0 0 2
LPP 0 0 2 0 0 2
MAP3K1 0 0 2 0 0 2
MAST1 1 0 1 0 0 2
MBD5 1 0 1 0 0 2
MBTPS1 0 1 1 0 0 2
MCM3AP 0 1 1 0 0 2
MED12 0 0 2 0 0 2
MED13 0 1 1 0 0 2
MN1 0 1 0 0 1 2
MUSK 0 0 2 0 0 2
MVK 0 0 2 0 0 2
MYH9 0 0 1 1 0 2
MYO15A 0 0 2 0 0 2
MYO7A 0 0 2 0 0 2
NFKB1 0 0 2 0 0 2
NFKB2 0 0 2 0 0 2
NIPBL 1 0 1 0 0 2
NLRP3 1 0 1 0 0 2
NOTCH3 0 1 1 0 0 2
NPC1 1 0 1 0 0 2
NSUN2 1 0 1 0 0 2
OBSL1 0 0 2 0 0 2
OTOA 1 1 0 0 0 2
PACS1 0 1 1 0 0 2
PAX9 0 0 2 0 0 2
PCCB 0 0 2 0 0 2
PCSK9 0 1 1 0 0 2
PEX12 1 1 0 0 0 2
PGK1 0 0 2 0 0 2
PHIP 0 2 0 0 0 2
PHKA1 0 0 2 0 0 2
PHKA2 0 0 2 0 0 2
PHYH 1 0 1 0 0 2
PIGA 0 1 1 0 0 2
PKD1 1 0 1 0 0 2
PLEC 0 0 2 0 0 2
POLA1 0 0 2 0 0 2
POLR3A 0 0 2 0 0 2
POMC 0 0 1 0 1 2
POU3F3 0 0 2 0 0 2
PSTPIP1 0 0 1 1 0 2
PTPN11 2 0 0 0 0 2
PUF60 0 1 1 0 0 2
RELA 0 0 2 0 0 2
RNF213 0 0 2 0 0 2
ROBO3 0 0 2 0 0 2
RP1L1 0 0 2 0 0 2
SAMD9 0 0 2 0 0 2
SATB1 1 0 1 0 0 2
SBF1 0 0 2 0 0 2
SDHD 1 1 0 0 0 2
SETBP1 1 0 1 0 0 2
SETD5 1 0 1 0 0 2
SKI 1 0 1 0 0 2
SLC26A2 0 2 0 0 0 2
SLC2A1 0 1 1 0 0 2
SMARCA2 0 1 1 0 0 2
SMO 0 0 2 0 0 2
SON 1 0 1 0 0 2
SOX5 0 0 2 0 0 2
SPINK1 0 0 2 0 0 2
SPTBN1 0 0 2 0 0 2
STIM1 0 0 2 0 0 2
STX1B 1 0 1 0 0 2
TAF1 0 0 2 0 0 2
TANC2 0 0 2 0 0 2
TBX6 0 1 1 0 0 2
TG 0 0 2 0 0 2
TMEM127 0 0 2 0 0 2
TNXB 0 0 2 0 0 2
TRAK1 1 0 1 0 0 2
TRIM2 0 0 2 0 0 2
UBA1 0 0 2 0 0 2
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 2 0 0 0 0 2
USH2A 1 0 1 0 0 2
WFS1 0 1 1 0 0 2
YAP1 0 0 2 0 0 2
ZBTB18 0 2 0 0 0 2
ZNF142 0 0 2 0 0 2
​intergenic 0 0 1 0 0 1
A2ML1 0 0 1 0 0 1
ABAT 0 0 1 0 0 1
ACAN 0 1 0 0 0 1
ACOX1 0 0 1 0 0 1
ACSL4 0 0 1 0 0 1
ACTG1 0 0 1 0 0 1
ACTL6B 0 1 0 0 0 1
ACTN2 0 0 1 0 0 1
ADNP 0 0 1 0 0 1
AFF2 0 0 1 0 0 1
AFG2A 0 0 1 0 0 1
AFG3L2 0 0 1 0 0 1
AGO1 0 1 0 0 0 1
AHI1 1 0 0 0 0 1
ALDH7A1 0 1 0 0 0 1
ANKRD17 0 0 1 0 0 1
ANO3 0 0 1 0 0 1
ANO5 1 0 0 0 0 1
AP3B2, CPEB1 0 0 1 0 0 1
AP4B1 1 0 0 0 0 1
AP4B1, PTPN22 0 0 1 0 0 1
AQP2 0 0 1 0 0 1
ARFGEF1-DT, CPA6 0 0 1 0 0 1
ARHGAP31 0 0 1 0 0 1
ARHGEF10 0 0 1 0 0 1
ARID1A, LOC126805670 0 0 1 0 0 1
ARIH1 0 0 1 0 0 1
ARL3 0 0 1 0 0 1
ARSL 0 1 0 0 0 1
ARX 0 0 1 0 0 1
ASH1L 0 0 1 0 0 1
ASXL2 0 0 1 0 0 1
ATP11A 0 0 1 0 0 1
ATP2B2 0 0 1 0 0 1
ATP2B3 0 0 1 0 0 1
ATRX 0 0 1 0 0 1
ATXN3, LOC108663987 0 0 1 0 0 1
B3GAT3 0 0 1 0 0 1
B3GLCT 1 0 0 0 0 1
BBS7 1 0 0 0 0 1
BCORL1 0 0 1 0 0 1
BPTF 0 0 0 0 1 1
C2 1 0 0 0 0 1
C2CD3 0 0 1 0 0 1
C7 0 0 1 0 0 1
CACNA1C 0 0 1 0 0 1
CACNA1D 0 0 1 0 0 1
CACNA1E 0 0 1 0 0 1
CACNA1F 0 0 1 0 0 1
CACNA1F, LOC126863257 0 0 1 0 0 1
CACNA1G 0 0 1 0 0 1
CACNA1H 0 0 1 0 0 1
CACNA1I 0 0 1 0 0 1
CAMK2B 0 0 1 0 0 1
CARD11 0 0 1 0 0 1
CBL 0 1 0 0 0 1
CC2D1A 0 0 1 0 0 1
CCDC107, RMRP 1 0 0 0 0 1
CCDC8 0 0 1 0 0 1
CCM2 0 0 1 0 0 1
CCND2 0 0 1 0 0 1
CCNH, RASA1 0 1 0 0 0 1
CD2AP 0 0 1 0 0 1
CDC73 0 0 0 1 0 1
CDH3 1 0 0 0 0 1
CDK4, LOC130008148 0 0 1 0 0 1
CDK4, TSPAN31 0 0 1 0 0 1
CDKN2A, LOC130001603 1 0 0 0 0 1
CELA2A 0 0 1 0 0 1
CEP152 0 0 1 0 0 1
CEP57 0 0 1 0 0 1
CEP85L, PLN 0 1 0 0 0 1
CERT1 0 0 1 0 0 1
CFHR3 0 0 1 0 0 1
CFI 0 0 1 0 0 1
CFP 0 0 1 0 0 1
CFTR, LOC111674472 1 0 0 0 0 1
CHAMP1 1 0 0 0 0 1
CHD1 0 0 1 0 0 1
CHD3, NAA38 0 0 1 0 0 1
CHD8 0 0 1 0 0 1
CHRNA1 0 0 1 0 0 1
CLCN1 1 0 0 0 0 1
CLCN2 0 0 1 0 0 1
CNBP 0 0 1 0 0 1
CNKSR2 0 0 1 0 0 1
CNOT9 0 1 0 0 0 1
COA8 0 0 1 0 0 1
COG4 0 0 1 0 0 1
COL10A1, NT5DC1 1 0 0 0 0 1
COL12A1 0 0 1 0 0 1
COL18A1 0 0 1 0 0 1
COL27A1 0 0 1 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 1
COQ2, LOC112997540 0 0 1 0 0 1
CPA6 0 0 1 0 0 1
CR2, LOC126805994 0 0 1 0 0 1
CREBBP 0 1 0 0 0 1
CRELD1 1 0 0 0 0 1
CRYAB 0 1 0 0 0 1
CSTB 1 0 0 0 0 1
CTLA4 0 0 1 0 0 1
CTNNB1, LOC126806658 1 0 0 0 0 1
CTTN-DT, PPFIA1 0 0 1 0 0 1
CUL4B 0 0 1 0 0 1
CUL7, LOC129996487 0 0 1 0 0 1
CXCR4 0 1 0 0 0 1
CYLD 0 0 1 0 0 1
CYP26B1 0 0 1 0 0 1
CYP7A1 0 0 1 0 0 1
DAB1 0 0 1 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
DCX 1 0 0 0 0 1
DDB2, LOC126861205 0 0 1 0 0 1
DDX23 0 0 1 0 0 1
DDX6 0 1 0 0 0 1
DEAF1 0 1 0 0 0 1
DGUOK 0 0 1 0 0 1
DHX30 0 1 0 0 0 1
DLG4 1 0 0 0 0 1
DLG4, LOC126862479 0 0 1 0 0 1
DLL1 1 0 0 0 0 1
DNA2 0 0 1 0 0 1
DNASE1L1, LOC130068869, TAFAZZIN 1 0 0 0 0 1
DNMT3A 1 0 0 0 0 1
DOK7 1 0 0 0 0 1
DOLK 0 0 1 0 0 1
DPF2 0 0 1 0 0 1
DYNC1I2 0 0 1 0 0 1
DYNC2I2 0 1 0 0 0 1
DYRK1A 0 1 0 0 0 1
EFCAB10, RINT1 0 0 1 0 0 1
EFTUD2 1 0 0 0 0 1
EIF2B2 0 0 1 0 0 1
EIF2B4, GTF3C2 0 0 1 0 0 1
ELN 1 0 0 0 0 1
ELOVL5 0 0 1 0 0 1
ERCC2, KLC3 0 0 1 0 0 1
EVC 0 0 1 0 0 1
EXT2, LOC126861201 0 0 1 0 0 1
EXTL3 0 0 1 0 0 1
FAM111A 0 0 1 0 0 1
FAM111B 0 1 0 0 0 1
FAM20A, PRKAR1A 0 0 1 0 0 1
FANCA, LOC130059837 0 0 1 0 0 1
FANCI, POLG 1 0 0 0 0 1
FANCL, VRK2 0 0 1 0 0 1
FANCM, LOC130055524 0 0 1 0 0 1
FARS2, LOC101927950 0 0 1 0 0 1
FASLG 0 0 1 0 0 1
FBN1, LOC130057019 0 0 1 0 0 1
FBN2 0 0 1 0 0 1
FBXO11 0 1 0 0 0 1
FBXO11, MSH6 1 0 0 0 0 1
FBXO38 0 0 1 0 0 1
FGD1 0 0 1 0 0 1
FGF12 0 0 1 0 0 1
FGFR2 1 0 0 0 0 1
FKRP 0 0 1 0 0 1
FLNA, LOC107988032 0 0 1 0 0 1
FLNB 0 0 1 0 0 1
FLT4 0 0 1 0 0 1
FMN2 0 0 1 0 0 1
FN1 0 0 1 0 0 1
FOXG1 1 0 0 0 0 1
FOXN1 0 0 1 0 0 1
FOXP2 0 0 1 0 0 1
FREM2 0 0 1 0 0 1
FRMD7 0 0 1 0 0 1
FTL 0 0 1 0 0 1
GABRA1 0 1 0 0 0 1
GABRA2 0 0 1 0 0 1
GABRB2 0 0 1 0 0 1
GABRG2 0 1 0 0 0 1
GALK1, ITGB4 0 0 1 0 0 1
GALNS 1 0 0 0 0 1
GATAD2B 0 0 1 0 0 1
GBA1, LOC106627981 1 0 0 0 0 1
GBE1 1 0 0 0 0 1
GBF1 0 0 1 0 0 1
GCK 0 1 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 0 1
GHR 0 0 1 0 0 1
GJB4 0 0 1 0 0 1
GJB6 0 0 1 0 0 1
GNAS 0 0 1 0 0 1
GNB1 1 0 0 0 0 1
GNE 1 0 0 0 0 1
GPHN, RDH12 1 0 0 0 0 1
GRIA2 0 0 1 0 0 1
GRIN2B 0 0 1 0 0 1
GSDME 0 0 1 0 0 1
HAL 0 0 1 0 0 1
HARS1, LOC129994848 0 0 1 0 0 1
HBA-LCR, NPRL3 0 0 1 0 0 1
HECW2 0 0 1 0 0 1
HIVEP2 0 0 1 0 0 1
HNF1B 1 0 0 0 0 1
HNF4A 0 0 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HNRNPK 0 0 1 0 0 1
HNRNPU 0 1 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 1
HSD3B2 0 0 1 0 0 1
HSPA9 0 0 1 0 0 1
HTRA1 1 0 0 0 0 1
HUWE1 0 0 1 0 0 1
IDH2 0 0 1 0 0 1
IDUA 1 0 0 0 0 1
IFT140 0 1 0 0 0 1
IGF1R 0 0 1 0 0 1
IKZF1 0 0 1 0 0 1
IKZF3 0 0 1 0 0 1
IL10RA 0 0 1 0 0 1
IL1RAPL1 0 0 1 0 0 1
INF2 1 0 0 0 0 1
IRF2BP2, LOC129932810 0 0 1 0 0 1
IRF2BPL, LOC107984638 0 1 0 0 0 1
IRF3 0 0 1 0 0 1
IRF4 0 0 1 0 0 1
IRF8 0 0 1 0 0 1
JAG1 0 0 1 0 0 1
JARID2 0 0 1 0 0 1
JPH2 0 0 1 0 0 1
KAT5, RNASEH2C 0 0 1 0 0 1
KAT6B 0 1 0 0 0 1
KCNC1 0 0 1 0 0 1
KCNH1 0 0 1 0 0 1
KCNJ5 0 0 1 0 0 1
KCNJ6 0 0 1 0 0 1
KCNK3 0 0 1 0 0 1
KCNMA1 0 0 1 0 0 1
KDM5C 0 0 1 0 0 1
KIF11 1 0 0 0 0 1
KIF1A, LOC126806583 0 0 1 0 0 1
KIF5A 0 0 1 0 0 1
KLHL40 1 0 0 0 0 1
KMT2E 0 0 1 0 0 1
KMT5B 0 0 1 0 0 1
KNL1 0 0 1 0 0 1
KRAS 0 0 1 0 0 1
KRIT1 0 0 1 0 0 1
KRT10 0 0 1 0 0 1
KRT5 1 0 0 0 0 1
KRT5, LOC126861526 0 1 0 0 0 1
KRT81, KRT86 0 0 1 0 0 1
KRT9 1 0 0 0 0 1
LAGE3, LOC130068876 0 0 1 0 0 1
LAMA2, LOC123864065 1 0 0 0 0 1
LAMB2 0 0 1 0 0 1
LAMP2 0 0 1 0 0 1
LARS1 1 0 0 0 0 1
LARS2 0 0 1 0 0 1
LITAF 0 0 0 1 0 1
LMNA 1 0 0 0 0 1
LMX1A 0 1 0 0 0 1
LMX1B 0 0 1 0 0 1
LOC105369373, PPFIA1 0 0 1 0 0 1
LOC105378353, SLC29A3 0 0 1 0 0 1
LOC106736614, RET 0 0 1 0 0 1
LOC107652445, SHOX 0 1 0 0 0 1
LOC110011216, PHOX2B 0 0 0 1 0 1
LOC114827850, MYL2 1 0 0 0 0 1
LOC126807437, MSH3 0 0 1 0 0 1
LOC126859837, SYNE1 0 0 1 0 0 1
LOC126861106, TUBGCP2 0 0 1 0 0 1
LOC126862264, MEFV 1 0 0 0 0 1
LOC126862481, POLR2A 0 0 1 0 0 1
LOC126863133, TOM1 0 0 1 0 0 1
LOC126863253, UBA1 1 0 0 0 0 1
LOC126863256, WDR45 0 0 1 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 1
LOC129936244, XPC 0 0 1 0 0 1
LOC130003710, RET 0 0 1 0 0 1
LOC130004775, NHLRC2 1 0 0 0 0 1
LOC130006027, LTBP3 0 0 1 0 0 1
LOC130009573, RFXAP 1 0 0 0 0 1
LOC130056709, NIPA1 0 0 1 0 0 1
LOC130061479, PSMD12 0 0 1 0 0 1
LOC130061900, SGSH 0 0 1 0 0 1
LOC130067016, LZTR1 0 0 1 0 0 1
LONP2, SIAH1 0 0 1 0 0 1
LPO, MPO 1 0 0 0 0 1
LRBA 0 0 1 0 0 1
LRP4 0 0 1 0 0 1
LRP6 0 1 0 0 0 1
LTBP3, SCYL1 0 0 1 0 0 1
LYST 0 0 1 0 0 1
MACF1 0 0 1 0 0 1
MAGT1 0 0 1 0 0 1
MAN2B1 1 0 0 0 0 1
MAOA 0 0 1 0 0 1
MAP2K2 0 0 1 0 0 1
MAPK1 0 1 0 0 0 1
MAPK3 0 1 0 0 0 1
MASP1 0 0 1 0 0 1
MASP2 0 1 0 0 0 1
MAX 0 0 1 0 0 1
MBTPS2 0 0 1 0 0 1
MCCC2 0 1 0 0 0 1
MECP2 0 1 0 0 0 1
MED12L 0 0 1 0 0 1
MED25 0 0 1 0 0 1
MEFV 0 1 0 0 0 1
MEIS2 1 0 0 0 0 1
MID1 0 0 1 0 0 1
MMP20 0 0 1 0 0 1
MPEG1 0 0 1 0 0 1
MRPS2 0 0 1 0 0 1
MTHFD1 0 0 1 0 0 1
MTM1 0 1 0 0 0 1
MTO1 0 1 0 0 0 1
MTOR 0 0 1 0 0 1
MYBPC3 1 0 0 0 0 1
MYD88 0 0 1 0 0 1
MYH11 0 0 1 0 0 1
MYH11, NDE1 0 0 1 0 0 1
MYH6 0 0 1 0 0 1
MYH7 0 0 1 0 0 1
MYLK 0 0 0 0 1 1
MYO1E 0 0 1 0 0 1
NAA15 1 0 0 0 0 1
NALCN 0 0 1 0 0 1
NBAS 0 0 1 0 0 1
NBEA 0 0 1 0 0 1
NCOA4 0 0 1 0 0 1
NCSTN 0 0 1 0 0 1
NDUFV1 0 0 1 0 0 1
NEB 0 0 1 0 0 1
NEB, RIF1 1 0 0 0 0 1
NEK1 0 0 1 0 0 1
NEK10 0 0 1 0 0 1
NEMF 1 0 0 0 0 1
NEUROD1 0 0 1 0 0 1
NFE2L2 0 0 1 0 0 1
NFIA 0 0 1 0 0 1
NFIB 0 0 1 0 0 1
NHLRC2 1 0 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 1
NLGN4X 0 0 1 0 0 1
NLRC4 0 0 1 0 0 1
NOG 0 1 0 0 0 1
NONO 0 0 1 0 0 1
NPRL2 0 0 1 0 0 1
NR2F1 0 1 0 0 0 1
NR5A1 0 0 1 0 0 1
NRXN1 0 0 1 0 0 1
NTHL1, TSC2 1 0 0 0 0 1
NTRK2 0 1 0 0 0 1
OAT 1 0 0 0 0 1
OCA2 1 0 0 0 0 1
ODC1 0 0 1 0 0 1
OGT 0 1 0 0 0 1
OTC 0 1 0 0 0 1
OTUD5 0 0 1 0 0 1
OTX2 0 0 1 0 0 1
PACRG, PRKN 0 0 1 0 0 1
PAK3 0 0 1 0 0 1
PALD1, PRF1 0 0 1 0 0 1
PCYT2 0 0 1 0 0 1
PDE11A 0 0 1 0 0 1
PDE8B 0 0 1 0 0 1
PDGFRB 0 0 1 0 0 1
PDYN 0 0 1 0 0 1
PHF6 1 0 0 0 0 1
PHF8 0 0 1 0 0 1
PIDD1 0 0 1 0 0 1
PIGT 1 0 0 0 0 1
PIGV 0 0 1 0 0 1
PIK3CD 0 0 1 0 0 1
PIK3R1 0 0 1 0 0 1
PITX1 0 0 1 0 0 1
PKD1, TSC2 0 0 0 1 0 1
PKP2 1 0 0 0 0 1
PLA2G6 0 0 1 0 0 1
PLOD1 0 0 1 0 0 1
PLP1, RAB9B 0 0 1 0 0 1
PMM2 1 0 0 0 0 1
PNPT1 0 0 1 0 0 1
POGZ 1 0 0 0 0 1
POLR2F, SOX10 0 0 1 0 0 1
POT1 0 0 1 0 0 1
PPIP5K2 0 0 1 0 0 1
PPM1D 0 0 1 0 0 1
PPOX 0 0 1 0 0 1
PPP1R12A 0 0 1 0 0 1
PPP2CA 0 0 1 0 0 1
PROKR2 1 0 0 0 0 1
PROP1 0 0 1 0 0 1
PRR12 0 1 0 0 0 1
PSMB4 0 0 1 0 0 1
PSMB9 0 0 1 0 0 1
PURA 1 0 0 0 0 1
PYGL 1 0 0 0 0 1
QARS1 1 0 0 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 0 1 0 0 1
RAD51 0 0 1 0 0 1
RAF1 1 0 0 0 0 1
RAI1 0 1 0 0 0 1
RALA 1 0 0 0 0 1
RANBP2 0 0 1 0 0 1
RARS1 1 0 0 0 0 1
RARS2 0 0 1 0 0 1
RBM10 0 0 1 0 0 1
RBM20 1 0 0 0 0 1
REEP1 0 0 1 0 0 1
RERE 0 0 1 0 0 1
RIPK1 0 0 1 0 0 1
RIT1 0 0 1 0 0 1
RMRP 1 0 0 0 0 1
RNASEH2B 1 0 0 0 0 1
RNASEH2C 0 0 1 0 0 1
ROR2 0 0 1 0 0 1
RPS6KA3 0 0 1 0 0 1
RUNX2, SUPT3H 0 0 1 0 0 1
SAMHD1 0 0 1 0 0 1
SATB2 1 0 0 0 0 1
SBDS 0 1 0 0 0 1
SCN10A 0 0 1 0 0 1
SCN3A 0 0 1 0 0 1
SETD1B 0 0 1 0 0 1
SGCD 0 0 1 0 0 1
SHANK3 1 0 0 0 0 1
SIK1 0 1 0 0 0 1
SLC12A2 0 0 1 0 0 1
SLC12A6 0 0 1 0 0 1
SLC24A1 1 0 0 0 0 1
SLC25A11 0 0 1 0 0 1
SLC25A13 0 0 1 0 0 1
SLC25A4 0 0 1 0 0 1
SLC35A2 0 0 1 0 0 1
SLC3A1 1 0 0 0 0 1
SLC46A1 0 0 1 0 0 1
SLC52A1 0 0 1 0 0 1
SLC52A3 0 0 1 0 0 1
SLC6A1 0 0 1 0 0 1
SLC6A19 0 1 0 0 0 1
SLC6A8 0 0 1 0 0 1
SMAD2 0 1 0 0 0 1
SMAD6 0 0 1 0 0 1
SMARCB1 0 0 1 0 0 1
SMARCC2 0 0 1 0 0 1
SMC1A 0 0 1 0 0 1
SMS 0 0 1 0 0 1
SNHG14, UBE3A 0 0 1 0 0 1
SNRNP200 0 1 0 0 0 1
SORD 1 0 0 0 0 1
SOS1 1 0 0 0 0 1
SOX4 0 0 1 0 0 1
SPEN 0 0 1 0 0 1
SPG7 1 0 0 0 0 1
SPRED1 0 0 1 0 0 1
SPTAN1 0 1 0 0 0 1
SPTBN4 0 0 1 0 0 1
SPTLC2 0 0 1 0 0 1
SQSTM1 0 0 1 0 0 1
SRCAP 1 0 0 0 0 1
SSR4 0 0 1 0 0 1
STIL 0 0 1 0 0 1
STXBP1 0 0 1 0 0 1
SYN1 0 1 0 0 0 1
SYNGAP1 0 0 1 0 0 1
TBCD 0 0 1 0 0 1
TCOF1 0 0 1 0 0 1
TCTN3 0 0 1 0 0 1
TELO2 0 1 0 0 0 1
TFAP2B 0 1 0 0 0 1
TFE3 0 1 0 0 0 1
TGFB2 0 0 0 1 0 1
TGFB3 0 0 1 0 0 1
TGFBR1 0 1 0 0 0 1
TGFBR2 0 0 1 0 0 1
TGM5 1 0 0 0 0 1
THSD1 0 0 1 0 0 1
TICAM1 0 0 1 0 0 1
TKT 0 0 1 0 0 1
TLR8 0 0 1 0 0 1
TLR9 0 0 1 0 0 1
TMEM63A 0 0 1 0 0 1
TMEM67 1 0 0 0 0 1
TMEM70 1 0 0 0 0 1
TMTC3 0 1 0 0 0 1
TNFRSF11A 0 0 1 0 0 1
TNFRSF1A 0 0 1 0 0 1
TNNT2 0 1 0 0 0 1
TNNT3 1 0 0 0 0 1
TNPO2 0 0 1 0 0 1
TNPO3 0 1 0 0 0 1
TNRC6B 0 0 1 0 0 1
TP63 0 0 1 0 0 1
TPP1 1 0 0 0 0 1
TRAF7 0 1 0 0 0 1
TRIP12 0 1 0 0 0 1
TRRAP 0 1 0 0 0 1
TSPOAP1 1 0 0 0 0 1
TTN 1 0 0 0 0 1
TTPA 0 0 1 0 0 1
TUBB2A 1 0 0 0 0 1
TUBB3 1 0 0 0 0 1
TUBB4A 0 1 0 0 0 1
TUBGCP6 0 0 1 0 0 1
TYR 0 1 0 0 0 1
U2AF1 0 1 0 0 0 1
UBE4A 1 0 0 0 0 1
UGDH 0 0 1 0 0 1
UPB1 1 0 0 0 0 1
USB1 0 1 0 0 0 1
VDR 0 0 1 0 0 1
VMA21 0 0 1 0 0 1
VPS13A 0 0 1 0 0 1
VWF 1 0 0 0 0 1
WAC 0 1 0 0 0 1
WARS1 0 0 1 0 0 1
WASF1 1 0 0 0 0 1
WDR26 1 0 0 0 0 1
WT1 0 0 1 0 0 1
YARS1 0 0 1 0 0 1
YWHAE 0 0 1 0 0 1
ZBTB20 0 0 1 0 0 1
ZBTB24 1 0 0 0 0 1
ZC4H2 1 0 0 0 0 1
ZFYVE27 0 0 1 0 0 1
ZMIZ1 0 1 0 0 0 1
ZMYM2 1 0 0 0 0 1
ZMYND11 0 1 0 0 0 1
ZNF292 0 0 1 0 0 1
ZNFX1 0 0 1 0 0 1
ZSWIM6 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 64
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 464 232 2217 114 54 3081
Familial adenomatous polyposis 1 1 1 0 0 0 2
Familial cancer of breast 1 1 0 0 0 2
Intellectual developmental disorder 62 1 0 1 0 0 2
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 2 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 1 0 0 2
Lynch syndrome 5 0 0 2 0 0 2
Stromme syndrome 2 0 0 0 0 2
Achondroplasia 1 0 0 0 0 1
Ariboflavinosis 0 0 1 0 0 1
Au-Kline syndrome 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 0 0 1
BAP1-related tumor predisposition syndrome 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 0 1 0 1
CHD7-related CHARGE syndrome 0 1 0 0 0 1
Capillary malformation-arteriovenous malformation 2 0 0 1 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 1C 0 0 0 1 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 0 0 1
Congenital fibrosis of extraocular muscles type 1 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 74 0 1 0 0 0 1
Duchenne muscular dystrophy 1 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 1 0 0 0 1
Epidermolysis bullosa simplex with mottled pigmentation 1 0 0 0 0 1
Epidermolytic palmoplantar keratoderma, 1 1 0 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 0 1
Hearing loss, autosomal dominant 82 0 0 1 0 0 1
Hearing loss, autosomal dominant 84 0 0 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 0 1 0 0 0 1
Intellectual developmental disorder with impaired language and dysmorphic facies 0 1 0 0 0 1
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 1 0 0 0 1
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0 0 1 0 0 1
Intellectual disability, autosomal dominant 1 1 0 0 0 0 1
Intellectual disability, autosomal dominant 13 0 0 1 0 0 1
Intellectual disability, autosomal dominant 43 0 0 1 0 0 1
Jeffries-Lakhani neurodevelopmental syndrome 1 0 0 0 0 1
Leukodystrophy, hypomyelinating, 19, transient infantile 0 0 1 0 0 1
Lymphatic malformation 7 0 0 1 0 0 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 0 1 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 1
Marfan syndrome 0 1 0 0 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 0 1 0 0 0 1
Myopathy, congenital, with structured cores and z-line abnormalities 0 0 1 0 0 1
Neonatal severe primary hyperparathyroidism 1 0 0 0 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 0 0 0 1
Neurofibromatosis, type 1 1 0 0 0 0 1
Neuroocular syndrome 1 0 1 0 0 0 1
Noonan syndrome 5 1 0 0 0 0 1
Parenti-mignot neurodevelopmental syndrome 0 0 1 0 0 1
Pyridoxine-dependent epilepsy 0 1 0 0 0 1
Rauch-Steindl syndrome 0 1 0 0 0 1
Retinitis pigmentosa 7 0 1 0 0 0 1
Schinzel-Giedion syndrome 1 0 0 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 0 1
Sotos syndrome 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, aggrecan type 0 1 0 0 0 1
Van der Woude syndrome 1 0 0 1 0 0 1
Vitelliform macular dystrophy 3 0 1 0 0 0 1
Wiedemann-Steiner syndrome 0 0 1 0 0 1
Wolfram-like syndrome 0 1 0 0 0 1
X-linked chondrodysplasia punctata 1 0 1 0 0 0 1

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