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:
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
468 233 2225 114 54 3094

Gene and significance breakdown #

Total genes and gene combinations: 907
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 45 4 48 2 19 118
APC 3 0 54 7 3 67
BRCA1 35 3 19 1 2 60
SLX4 1 1 49 0 1 52
ATM 7 0 38 5 1 51
RECQL4 0 0 47 1 1 49
MSH6 7 1 33 3 1 45
TSC2 2 0 32 9 0 43
NF1 10 2 24 3 0 39
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 8 2 19 3 0 32
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
RET 2 0 16 1 0 19
FANCI 0 0 18 0 0 18
NSD1 1 0 17 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
NTHL1 2 2 5 0 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
AUTS2 1 0 6 0 0 7
BUB1B 0 0 7 0 0 7
COL7A1 2 1 4 0 0 7
DMD 1 0 6 0 0 7
ERBB2 0 0 7 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
CASR 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
FBN1 1 1 4 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, POLGARF 2 3 1 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
PRF1 0 0 5 0 0 5
SCN2A 1 2 2 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
DHFR, MSH3 0 0 3 1 0 4
DLST 0 0 4 0 0 4
DNAH9 0 0 4 0 0 4
EPG5 0 2 2 0 0 4
FANCC 0 0 4 0 0 4
FANCL 1 0 3 0 0 4
GALC 0 1 3 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
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
CHD7 2 0 1 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
DYNC1H1 0 1 2 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
FGFR3 1 0 2 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
KCNQ1 0 1 2 0 0 3
KCNQ5, KCNQ5-DT, LOC129996711 0 0 3 0 0 3
KIF1A 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
PAH 1 0 2 0 0 3
PCNT 0 0 3 0 0 3
PIGO 0 0 3 0 0 3
PIK3CA 1 1 1 0 0 3
PRMT7 2 0 1 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
ABCA3 0 0 2 0 0 2
ABCA7 0 0 2 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
CEP290 2 0 0 0 0 2
CHD2 1 1 0 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
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
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
ITSN1 0 1 1 0 0 2
KAT6A 1 0 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
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
LOC102724058, SCN1A 1 0 1 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
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
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
NSD2 0 1 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
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
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
ABCC8 0 0 1 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
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
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
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
CHD5 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
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
DCX 1 0 0 0 0 1
DDB2, LOC126861205 0 0 1 0 0 1
DDX23 0 0 1 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, 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
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, POLGARF 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
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
GRIA4 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
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
IRF3 0 0 1 0 0 1
IRF4 0 0 1 0 0 1
IRF6 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
KMT2A 0 1 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, LOC126861526 0 1 0 0 0 1
KRT81, KRT86 0 0 1 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
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
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
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
MBD5 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
MPO 1 0 0 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
MYH9 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
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
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
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
PRPH2 1 0 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
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
SBDS 0 1 0 0 0 1
SCN10A 0 0 1 0 0 1
SCN3A 0 0 1 0 0 1
SETBP1 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
SLC29A3 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 1 0 0 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
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
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
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
WFS1 0 0 1 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: 2
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 467 233 2225 114 54 3093
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 0 0 0 0 1

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