ClinVar Miner

Variants from Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Location: United States — 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
420 90 796 185 392 1879

Gene and significance breakdown #

Total genes and gene combinations: 763
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LOC107303340, VHL 67 21 19 4 0 110
VHL 54 14 15 3 2 88
FOXL2 38 8 13 1 2 62
FLCN 41 4 12 1 2 60
FH 36 8 10 0 0 54
GJB2 24 4 13 2 5 48
CHD7 26 4 7 0 8 44
FGFR2 31 8 1 0 0 40
CYLD 23 0 6 0 0 29
BRCA2 0 0 9 11 8 28
APOB 0 0 14 3 7 24
DSP 0 0 13 4 3 20
MECP2 8 0 8 0 3 19
APC 0 0 11 1 6 18
ALK 12 1 2 0 0 15
RYR1 0 0 12 0 3 15
PMS2 0 0 5 2 6 13
BRCA1 0 0 7 2 3 12
TTN 0 0 11 0 1 12
ABCC8 10 0 0 0 0 10
TSC2 0 0 4 1 5 10
CDKL5 4 0 3 0 2 9
RYR2 0 0 5 1 3 9
SCN5A 0 0 5 2 3 9
ZEB2 5 0 1 2 1 9
MLH1 0 0 4 1 3 8
FGFR3 3 0 4 0 0 7
HERC2 0 0 3 0 4 7
KCNH2 0 0 4 2 1 7
LDLR 0 0 3 3 1 7
NEB 0 0 5 1 2 7
SNHG14, UBE3A 2 1 3 1 0 7
ANK3 0 0 3 0 3 6
DSC2 0 0 5 0 1 6
DSG2 0 0 4 1 1 6
FMN2 0 0 5 0 1 6
MSH2 0 0 3 0 3 6
MSH6 0 0 5 0 1 6
PKP2 0 0 3 3 0 6
WFS1 1 0 2 1 2 6
ADGRV1 0 0 4 1 0 5
EFNB1 1 2 1 0 1 5
FBN1 0 0 2 0 3 5
FLNB 0 0 5 0 0 5
KDM6B 0 0 1 1 3 5
MUTYH 1 0 2 1 1 5
MYH11, NDE1 0 0 5 0 0 5
MYLK 0 0 5 0 0 5
POLG 0 0 3 1 1 5
TRIOBP 0 0 1 3 1 5
TSC1 0 0 1 0 4 5
USH2A 1 0 4 0 0 5
ABCD1 0 0 0 2 2 4
ALG8 0 0 0 3 1 4
ALMS1 0 0 1 0 3 4
COG1 0 0 1 0 3 4
CREBBP 0 0 2 0 2 4
DDX11 1 0 3 0 0 4
DPP6 0 0 3 1 0 4
FANCD2, LOC107303338 0 0 3 1 0 4
FOXG1 1 1 0 2 0 4
GABRG2 0 1 3 0 0 4
GLA, RPL36A-HNRNPH2 0 1 2 0 1 4
KMT2A 1 0 2 0 1 4
KMT2C 0 0 1 0 3 4
LOC106029240, VCX3A 0 0 0 1 3 4
MYO6 0 0 2 2 0 4
NOTCH2 0 0 0 2 2 4
RECQL4 0 0 4 0 0 4
RET 0 0 1 0 3 4
TGFBR2 0 0 3 1 0 4
VPS13B 0 0 1 2 1 4
ANKRD11 0 0 2 1 0 3
AP4B1 2 0 0 1 0 3
AP4S1 0 0 3 0 0 3
ATM 0 0 1 0 2 3
CBL 0 0 2 1 0 3
CDH23 1 0 2 0 0 3
COL3A1 0 0 1 0 2 3
HUWE1 0 0 2 1 0 3
KIF7 0 0 1 1 1 3
KMT2D 0 0 0 1 2 3
LRP2 0 0 0 1 2 3
MED13L 1 0 1 1 0 3
MUC4 0 0 1 0 2 3
MYBPC3 0 0 2 0 1 3
MYH11 0 0 3 0 0 3
MYH7 0 0 1 1 1 3
MYO15A 1 0 2 0 0 3
NBPF1 0 0 3 0 0 3
NOD2 0 0 3 0 0 3
NSD1 0 0 1 0 2 3
OTOA 1 0 2 0 0 3
OTOG 0 0 3 0 0 3
PCDH15 0 0 0 2 1 3
PCSK9 0 0 1 1 1 3
PIGT 0 0 1 0 2 3
PNPT1 0 0 2 1 0 3
POLE 0 0 2 1 0 3
RAI1 0 0 0 0 3 3
RASA2 0 0 2 0 1 3
SDHD 0 0 1 0 2 3
SYNE2 0 0 2 0 1 3
TLR5 0 0 0 0 3 3
TP53 0 0 1 0 2 3
TUBGCP6 0 0 3 0 0 3
ZSWIM6 0 0 1 1 1 3
AASS 0 0 2 0 0 2
ADSL 0 0 2 0 0 2
AHCY 0 0 1 1 0 2
AMT 0 0 2 0 0 2
ARHGAP29 0 0 2 0 0 2
ARID1B 0 1 1 0 0 2
ARX 0 0 1 1 0 2
ASXL3 0 0 1 0 1 2
ATP1A3 1 1 0 0 0 2
ATP6V0A4 0 0 0 0 2 2
ATP8A2 0 0 1 1 0 2
ATRX 0 0 0 1 1 2
B3GLCT 0 0 1 0 1 2
BCKDHA 0 0 1 0 1 2
BDP1 0 0 1 1 0 2
BNC2 0 0 0 0 2 2
BRAF 0 0 1 0 1 2
CACNA1S 0 0 1 0 1 2
CACNA2D2 0 0 1 0 1 2
CCDC40 0 0 0 0 2 2
CDK5RAP2 0 0 2 0 0 2
CEL 0 0 0 1 1 2
CEP290 0 0 2 0 0 2
CFI 0 0 1 0 1 2
CLCN1 0 0 0 0 2 2
CLCN2 0 0 0 0 2 2
CNKSR1 0 0 1 0 1 2
CNTN6 0 0 2 0 0 2
COL2A1 0 0 1 1 0 2
COL4A4 0 0 1 1 0 2
COL6A3 0 0 1 0 1 2
DAAM1 0 0 2 0 0 2
DACH1 0 0 2 0 0 2
DNAAF3 0 0 2 0 0 2
DOK7 1 0 1 0 0 2
EHMT1 0 0 2 0 0 2
EPG5 0 0 2 0 0 2
FANCC 0 0 1 0 1 2
FANCF 0 0 1 1 0 2
FGF8 0 0 1 0 1 2
FLNA 0 0 1 0 1 2
FREM1 0 0 2 0 0 2
FUCA1 1 0 1 0 0 2
GATAD1, PEX1 0 0 1 1 0 2
GNAS 0 0 2 0 0 2
GRIA3 0 0 0 1 1 2
HLA-DRB5 0 0 0 0 2 2
HOXB, HOXB6 0 0 2 0 0 2
HS6ST1 0 0 1 0 1 2
ITGB6 0 0 0 0 2 2
KANK1 0 0 2 0 0 2
KCNMA1 0 0 1 1 0 2
KCNQ1 0 1 1 0 0 2
KIF1B 0 0 0 0 2 2
LAMA2 0 0 1 0 1 2
LARS2 0 1 0 0 1 2
LBR 0 0 2 0 0 2
LOC106780803, TNXB 0 0 0 0 2 2
LRBA 0 0 1 0 1 2
LRPPRC 0 0 2 0 0 2
MED13 0 0 1 0 1 2
MED23 0 0 1 0 1 2
MEGF10 0 0 2 0 0 2
METTL23 0 0 1 0 1 2
MHRT, MYH7 0 0 1 0 1 2
MOGS 0 0 0 0 2 2
MT-ND1 0 0 0 1 1 2
MYO1C 0 0 0 0 2 2
MYO7A 0 0 1 0 1 2
MYO9B 0 0 2 0 0 2
NAGA 0 0 2 0 0 2
NCAPG2 0 0 2 0 0 2
NEB, RIF1 0 0 2 0 0 2
NF1 1 0 0 0 1 2
NKX2-5 0 0 0 0 2 2
NOTCH4 0 0 0 0 2 2
OBSCN 0 0 2 0 0 2
OTOF 0 0 0 1 1 2
OTOGL 0 0 0 2 0 2
PCLO 0 0 0 1 1 2
PCNT 0 0 0 0 2 2
PCSK5 0 0 1 1 0 2
PDGFRB 0 0 2 0 0 2
PHC1 0 0 2 0 0 2
PIGN 0 0 1 0 1 2
PLEC 2 0 0 0 0 2
PROKR2 0 0 1 1 0 2
PTPN23 0 0 1 0 1 2
RB1 0 0 1 0 1 2
SALL1 0 0 0 1 1 2
SALL4 0 0 1 0 1 2
SCN1A, SCN9A 0 0 0 1 1 2
SDHB 1 0 0 0 1 2
SEMA3E 0 0 1 0 1 2
SETD5 0 0 2 0 0 2
SHANK3 0 0 1 0 1 2
SLC6A8 0 0 0 1 1 2
SLX4 0 0 2 0 0 2
SMARCA2 0 0 0 1 1 2
SPTBN4 0 0 2 0 0 2
SRCAP 0 0 0 0 2 2
STK11 0 0 2 0 0 2
SYNE1 0 0 0 1 1 2
TENM4 0 0 2 0 0 2
TGFB1 0 0 0 0 2 2
TRAPPC9 0 0 2 0 0 2
TUBB2A 0 0 0 1 1 2
TYK2 0 0 2 0 0 2
WASHC5 0 0 2 0 0 2
WHRN 0 0 2 0 0 2
WIPF1 0 0 1 1 0 2
ZBTB24 0 0 1 0 1 2
ZIC5 0 0 0 0 2 2
A2ML1 0 0 0 0 1 1
ABCA13 0 0 1 0 0 1
ABCA7 0 0 1 0 0 1
ABCB1 0 0 0 0 1 1
ABHD14A-ACY1, ACY1 0 0 1 0 0 1
ACP6 0 0 0 0 1 1
ADARB1 0 0 1 0 0 1
ADNP 0 0 0 0 1 1
AFDN 0 0 1 0 0 1
AGPS 0 0 1 0 0 1
AGRN 0 0 1 0 0 1
AHDC1 0 0 1 0 0 1
AHI1 0 0 0 0 1 1
AIRE 0 0 1 0 0 1
AKAP2, PALM2AKAP2 0 0 0 0 1 1
AKAP9 0 0 1 0 0 1
ALDH5A1 0 0 0 0 1 1
ALDOA, LOC112694756 0 0 1 0 0 1
ALG11 0 0 0 0 1 1
ALG13 0 0 1 0 0 1
ALG2 0 0 1 0 0 1
ALG6 0 0 0 0 1 1
ALX1 0 0 0 0 1 1
ALX4 0 0 1 0 0 1
ANK2 0 0 1 0 0 1
AOPEP, FANCC 1 0 0 0 0 1
AP4B1, PTPN22 0 0 1 0 0 1
AP4M1 0 0 1 0 0 1
APTX 0 0 0 0 1 1
AQP4 0 0 1 0 0 1
ARID2 0 0 1 0 0 1
ARX, LOC109610631 1 0 0 0 0 1
ATF2 0 0 1 0 0 1
ATM, C11orf65 0 0 1 0 0 1
ATP10A 0 0 1 0 0 1
ATP5F1A 0 0 1 0 0 1
ATP5MF-PTCD1, PTCD1 0 0 1 0 0 1
ATP6V1B1 0 0 1 0 0 1
ATR 0 0 1 0 0 1
ATXN1, LOC108663993 0 0 0 1 0 1
ATXN2 0 0 0 0 1 1
ATXN3 0 0 0 0 1 1
BCL11B 0 0 0 0 1 1
BCL3 0 0 1 0 0 1
BCR 0 0 1 0 0 1
BCR, LOC107963955 0 0 0 0 1 1
BHLHE22, LOC401463 0 0 0 1 0 1
BLM 0 0 1 0 0 1
BLNK 0 0 0 1 0 1
BMP2K, PAQR3 0 0 0 0 1 1
BMPR1B 0 0 0 0 1 1
BMPR2 0 0 0 0 1 1
BPI 0 0 1 0 0 1
BRD2 0 0 1 0 0 1
BRF1 0 0 1 0 0 1
BRWD3 0 0 0 0 1 1
C10orf105, CDH23 0 0 1 0 0 1
C12orf57 0 0 0 1 0 1
C12orf60, GUCY2C 0 0 1 0 0 1
C12orf65 0 0 1 0 0 1
C17orf67 0 0 1 0 0 1
C2CD3 0 0 1 0 0 1
C2orf42 0 0 1 0 0 1
C3 0 0 1 0 0 1
CA4 0 0 0 0 1 1
CACNA1A, LOC108663985 0 0 0 0 1 1
CACNA1D 0 0 1 0 0 1
CACNA1F 1 0 0 0 0 1
CACNA1I 0 0 1 0 0 1
CACNA2D1 0 0 0 0 1 1
CACNB1 0 0 0 1 0 1
CACNB2 0 0 0 1 0 1
CACNG2 0 0 1 0 0 1
CAMK2A 0 0 1 0 0 1
CAMTA1 0 0 1 0 0 1
CARD8 0 0 1 0 0 1
CASK 1 0 0 0 0 1
CAVIN1 0 0 1 0 0 1
CCDC198 0 0 0 0 1 1
CCDC22 0 0 0 1 0 1
CCDC33 0 0 0 1 0 1
CD3D 0 0 1 0 0 1
CD79A 0 0 1 0 0 1
CDH15 0 0 1 0 0 1
CDHR1 0 0 0 1 0 1
CDKL5, RS1 0 0 0 0 1 1
CDX1 0 0 1 0 0 1
CEACAM1, LIPE 0 0 1 0 0 1
CEACAM16 0 0 1 0 0 1
CENPE 0 0 0 1 0 1
CEP128, TSHR 0 0 0 0 1 1
CHD2 0 0 1 0 0 1
CHD6 0 0 0 0 1 1
CHD8 0 0 1 0 0 1
CHEK2 0 1 0 0 0 1
CHKB, CHKB-CPT1B 0 0 1 0 0 1
CHRNA7 0 0 1 0 0 1
CHRNB1 0 0 1 0 0 1
CIC 0 0 1 0 0 1
CLPTM1L 0 0 1 0 0 1
CLTCL1 0 0 1 0 0 1
CNGA2 0 0 1 0 0 1
COG6 0 0 1 0 0 1
COL11A1 0 0 0 0 1 1
COL18A1 0 0 1 0 0 1
COL1A1 0 0 0 0 1 1
COL5A3 0 0 1 0 0 1
COL6A1 0 0 1 0 0 1
COL6A2 0 0 0 0 1 1
COL9A3 0 0 0 0 1 1
COQ2 0 0 1 0 0 1
COQ8A 0 0 0 0 1 1
COX10, LOC105943586 0 0 1 0 0 1
COX15, ENTPD7 0 0 1 0 0 1
CPT1A 0 0 1 0 0 1
CR2 0 0 1 0 0 1
CSTB 0 0 0 1 0 1
CTNNB1 1 0 0 0 0 1
CTTNBP2 0 0 1 0 0 1
CXCR2 0 0 0 1 0 1
CYB5A 0 0 1 0 0 1
CYB5R3 0 0 1 0 0 1
CYBA 0 0 0 1 0 1
CYP2R1 0 0 1 0 0 1
CYSLTR2 0 0 1 0 0 1
D2HGDH 0 0 1 0 0 1
DCAF17 0 0 1 0 0 1
DCHS1 0 0 1 0 0 1
DDX10 0 0 0 0 1 1
DENND1C 0 0 1 0 0 1
DHFR, MSH3 0 0 1 0 0 1
DHTKD1 0 1 0 0 0 1
DISP1 0 0 1 0 0 1
DLC1 0 0 1 0 0 1
DLG2 0 0 0 1 0 1
DLG5 0 0 1 0 0 1
DM1, LOC107075317, SIX5 0 0 1 0 0 1
DMD 0 0 0 0 1 1
DNAH11 0 0 1 0 0 1
DNAJC5B 0 0 1 0 0 1
DNASE1 0 0 1 0 0 1
DNMT1 0 0 0 0 1 1
DOCK7 0 0 0 0 1 1
DOCK8 0 0 0 0 1 1
DOK1 0 0 1 0 0 1
DOP1A, PGM3 0 0 1 0 0 1
DSPP 0 0 1 0 0 1
EBP 0 0 0 0 1 1
ECI1 0 0 1 0 0 1
EDNRA 0 0 1 0 0 1
EEF1A2 0 0 1 0 0 1
EFHC1 0 0 1 0 0 1
EGR2 0 0 1 0 0 1
ELP2 0 0 1 0 0 1
EMG1 0 0 0 0 1 1
ENAH 0 0 0 0 1 1
ENDOG, SPOUT1 0 0 0 0 1 1
EOMES 0 0 1 0 0 1
EP300 0 0 0 0 1 1
EPS8 0 0 1 0 0 1
ERCC3 0 0 1 0 0 1
ERCC4 0 0 0 1 0 1
ERCC6, ERCC6-PGBD3 0 0 1 0 0 1
ERCC8 0 0 1 0 0 1
ERMARD 0 0 1 0 0 1
ESRRB 0 0 0 1 0 1
ETS1 0 0 1 0 0 1
EXOC6B 0 0 1 0 0 1
EXOSC8 0 0 1 0 0 1
EYS 0 0 0 1 0 1
FAAH2 0 0 0 1 0 1
FANCA, ZNF276 0 0 1 0 0 1
FANCG 0 0 1 0 0 1
FANCI, POLG 0 0 0 0 1 1
FANCM 0 0 0 0 1 1
FAT4 0 0 0 1 0 1
FBN2 0 0 0 0 1 1
FBXO17 0 0 1 0 0 1
FGFR1 0 0 0 1 0 1
FIGNL1 0 0 1 0 0 1
FIZ1 0 0 1 0 0 1
FKBP10 0 0 1 0 0 1
FLG 1 0 0 0 0 1
FOLH1 0 0 0 0 1 1
FOXH1 0 0 0 0 1 1
FOXI1 0 0 1 0 0 1
FOXL1 0 0 1 0 0 1
FOXP1 0 0 1 0 0 1
GAA 0 0 1 0 0 1
GABRB3 0 0 0 1 0 1
GABRD 0 0 1 0 0 1
GAL3ST2 0 0 1 0 0 1
GAS2L2 0 0 1 0 0 1
GBA2 0 0 1 0 0 1
GDI1 0 0 0 0 1 1
GH-LCR, SCN4A 0 0 0 0 1 1
GIPC3 0 0 1 0 0 1
GJB4 0 0 0 0 1 1
GLYCTK 0 0 1 0 0 1
GNS 0 0 1 0 0 1
GPC3 0 0 0 0 1 1
GPD1L 0 0 1 0 0 1
GPR161 0 0 0 0 1 1
GPR39, LYPD1 0 0 1 0 0 1
GRB14 0 0 1 0 0 1
GRHL3, STPG1 0 0 0 0 1 1
GRIA1 0 0 0 0 1 1
GRIK2 0 0 1 0 0 1
GRIK3 0 0 1 0 0 1
GRIN2A 0 0 1 0 0 1
GRIN2B 1 0 0 0 0 1
GRM1 0 0 1 0 0 1
GRM5 0 0 1 0 0 1
GRM6, LOC100130798 0 0 1 0 0 1
GRXCR2 0 0 1 0 0 1
GSDME 0 0 0 0 1 1
GSE1 0 0 0 1 0 1
GTF2IRD2, LOC106029312 0 0 1 0 0 1
HACD1 0 0 1 0 0 1
HAND1 0 0 0 1 0 1
HCN2 0 0 0 0 1 1
HESX1 0 0 0 0 1 1
HIF1A 0 0 1 0 0 1
HIP1 0 0 0 0 1 1
HNRNPU 0 0 1 0 0 1
HOXD13 0 0 0 0 1 1
HSD17B4 0 0 1 0 0 1
HSPG2 0 0 0 1 0 1
IARS2 0 0 1 0 0 1
ICE2 0 0 0 0 1 1
IDUA 0 0 1 0 0 1
IFIH1 0 0 1 0 0 1
IFRD1 0 0 0 0 1 1
IFT122 0 0 0 1 0 1
IFT172 0 0 0 1 0 1
IFT80, TRIM59-IFT80 0 0 0 1 0 1
IGF2, INS-IGF2 0 0 1 0 0 1
IGF2R 0 0 0 0 1 1
IGHMBP2 0 0 1 0 0 1
IL10RA 0 0 1 0 0 1
IL21R 0 0 1 0 0 1
IL4I1, NUP62 0 0 1 0 0 1
INO80 0 0 1 0 0 1
INSR 0 0 0 0 1 1
IPO9, NAV1 0 0 1 0 0 1
IQGAP2 0 0 1 0 0 1
ITCH 0 0 1 0 0 1
ITGA4 0 0 1 0 0 1
ITGA7 0 1 0 0 0 1
ITPK1 0 0 1 0 0 1
JAK3 0 0 1 0 0 1
JPH2 0 0 1 0 0 1
KARS1 0 0 0 0 1 1
KAT6A 1 0 0 0 0 1
KCNAB2 0 0 1 0 0 1
KCNC1 0 0 1 0 0 1
KCNJ1 0 0 0 0 1 1
KCNJ10 0 0 0 0 1 1
KCNK9 1 0 0 0 0 1
KCNN4 1 0 0 0 0 1
KCNQ3 0 0 1 0 0 1
KDM5C 0 0 0 0 1 1
KIAA1109 0 0 1 0 0 1
KIF1A 0 0 1 0 0 1
KLF8 0 0 0 0 1 1
KLHL41 0 0 1 0 0 1
KPTN 0 0 1 0 0 1
KRTAP1-1 0 0 0 0 1 1
LAMB1 0 0 1 0 0 1
LAMB2 0 0 1 0 0 1
LAMB3 0 0 1 0 0 1
LAMC2 0 0 0 1 0 1
LARP7 0 0 1 0 0 1
LDB3 0 0 1 0 0 1
LHX4 0 0 1 0 0 1
LIN7A 0 0 0 0 1 1
LINS1 0 0 0 0 1 1
LMOD3 0 0 1 0 0 1
LOC100131626, UBE4A 0 0 0 0 1 1
LOC100289580, PIEZO1 0 0 1 0 0 1
LOC101927870, RELN 0 0 1 0 0 1
LOC101929710, PCSK1 0 0 1 0 0 1
LOC105369391, MAP6 0 0 0 1 0 1
LOC107982234, WT1 0 0 0 1 0 1
LOC108660405, PPP2R2B 0 0 1 0 0 1
LOC110120671, LOC111721705, LOC112806051, ZEB2 1 0 0 0 0 1
LOC112533671, TSEN54 0 0 1 0 0 1
LOC613266, MACROD2 0 0 0 1 0 1
LOXHD1 0 0 1 0 0 1
LRP5 0 0 0 0 1 1
LRSAM1 0 0 0 0 1 1
LZTR1 0 0 0 1 0 1
MAG 0 0 0 0 1 1
MAGEL2 0 1 0 0 0 1
MAN1B1 0 0 0 0 1 1
MAN2B1 0 0 0 0 1 1
MAP2 0 0 1 0 0 1
MAP2K3 0 0 1 0 0 1
MAP3K1 0 0 0 1 0 1
MAP3K15 0 0 1 0 0 1
MASP2 0 0 0 0 1 1
MBD4 0 0 1 0 0 1
MBNL1 0 0 0 0 1 1
MCIDAS 0 0 1 0 0 1
MDGA1 0 0 1 0 0 1
MED12 0 0 0 0 1 1
MEGF8 0 0 1 0 0 1
MEN1 0 0 0 0 1 1
MERTK 0 0 1 0 0 1
MESP2 0 0 0 1 0 1
MFF 0 0 1 0 0 1
MGAT2 0 0 0 0 1 1
MIA2 0 0 0 0 1 1
MIB2 0 0 0 1 0 1
MICA 0 0 0 0 1 1
MILR1, POLG2 0 0 1 0 0 1
MIR3936HG, SLC22A4 0 0 1 0 0 1
MKKS 0 0 0 0 1 1
MKS1 0 0 1 0 0 1
MLXIPL 0 0 0 0 1 1
MLYCD 0 0 0 0 1 1
MMADHC 0 0 0 1 0 1
MOCS2 0 0 1 0 0 1
MR1 0 0 1 0 0 1
MRRF 0 0 1 0 0 1
MSRB3 0 0 0 1 0 1
MT-CYB 0 0 0 0 1 1
MTFMT 0 0 0 1 0 1
MTHFD1 0 0 1 0 0 1
MTMR14 0 0 0 1 0 1
MTOR 0 0 1 0 0 1
MUC2 0 0 0 0 1 1
MYH14 0 0 0 0 1 1
MYH3 0 0 1 0 0 1
MYH6 0 0 1 0 0 1
MYH8, MYHAS 0 0 0 1 0 1
MYL2 0 0 1 0 0 1
MYL3 0 0 1 0 0 1
MYO1A 0 0 0 0 1 1
MYO5B 0 0 0 0 1 1
NAA10 0 0 1 0 0 1
NAT1 0 0 0 0 1 1
NBAS 0 0 1 0 0 1
NBEA 0 0 1 0 0 1
NDUFA6 0 0 0 1 0 1
NDUFA9 0 0 1 0 0 1
NDUFB3 0 1 0 0 0 1
NDUFS6 0 0 1 0 0 1
NEBL 0 0 0 1 0 1
NECTIN1 0 0 0 0 1 1
NEDD4 0 0 0 0 1 1
NES 0 0 0 0 1 1
NF2 0 0 1 0 0 1
NGLY1 0 0 1 0 0 1
NID1 0 0 1 0 0 1
NIPA1 0 0 1 0 0 1
NLGN1 0 0 0 1 0 1
NLRP12 0 0 1 0 0 1
NLRP3 0 0 0 0 1 1
NPC1 0 0 1 0 0 1
NPHP3, NPHP3-ACAD11 0 0 0 1 0 1
NPL 0 0 1 0 0 1
NR3C2 1 0 0 0 0 1
NRG1 0 0 0 1 0 1
NRP2 0 0 0 0 1 1
NRXN1 0 0 1 0 0 1
OPRM1 0 0 0 0 1 1
OTC 0 0 0 0 1 1
OVGP1 0 0 0 0 1 1
PALB2 0 0 0 0 1 1
PAPSS2 0 0 0 0 1 1
PASK 0 0 1 0 0 1
PAX3 0 0 1 0 0 1
PAX6 0 0 0 0 1 1
PC 0 0 1 0 0 1
PDGFRA 0 0 1 0 0 1
PDZD2 0 0 1 0 0 1
PDZD7 0 0 0 0 1 1
PER3 0 0 1 0 0 1
PEX12 0 0 0 1 0 1
PGM1 0 0 1 0 0 1
PHKB 0 0 0 0 1 1
PI4KA 0 0 1 0 0 1
PIEZO1 0 0 0 0 1 1
PIEZO2 0 0 1 0 0 1
PIGA 0 0 0 1 0 1
PIGO 0 0 0 0 1 1
PIK3CD 0 0 0 1 0 1
PKHD1 0 0 0 1 0 1
PKM 0 0 1 0 0 1
PLK4 0 0 1 0 0 1
PMM2 0 0 0 0 1 1
PNPLA2 0 0 0 0 1 1
POGZ 0 1 0 0 0 1
POLD1 0 0 0 0 1 1
POMT1 0 0 1 0 0 1
PPIB, SNX22 0 0 1 0 0 1
PPP2R2B 0 0 1 0 0 1
PPT2, PPT2-EGFL8 0 0 1 0 0 1
PRDM16 0 0 0 0 1 1
PREPL 0 0 1 0 0 1
PRICKLE1 0 0 1 0 0 1
PRKCD 0 0 1 0 0 1
PRNP 0 0 0 0 1 1
PROM1 0 0 1 0 0 1
PRSS1, TRB 0 0 0 0 1 1
PRSS12 0 0 1 0 0 1
PRX 0 0 1 0 0 1
PTCH2 0 0 0 1 0 1
PTEN 0 0 1 0 0 1
PTGER4 0 0 0 0 1 1
PTPRQ 0 0 0 1 0 1
PTPRT 0 0 1 0 0 1
PURA 1 0 0 0 0 1
PYGM 0 0 1 0 0 1
RAB3GAP2 0 0 0 0 1 1
RAD50 0 0 1 0 0 1
RAD51C 0 0 0 0 1 1
RAD51D, RAD51L3-RFFL 0 0 1 0 0 1
RASAL1 0 0 0 1 0 1
RBFOX1 0 0 1 0 0 1
RBFOX3 0 0 1 0 0 1
RELN 0 0 0 0 1 1
REV3L 0 0 0 1 0 1
RFT1 0 0 1 0 0 1
RFXANK 0 0 0 1 0 1
RIN2 0 0 1 0 0 1
RIPK3 0 0 1 0 0 1
RNF168 0 0 0 0 1 1
ROR2 1 0 0 0 0 1
RORC 0 0 1 0 0 1
RP1 0 0 1 0 0 1
RRM2B 0 0 0 0 1 1
RUBCN 0 0 1 0 0 1
RXYLT1 0 0 1 0 0 1
RYK 0 0 0 0 1 1
SACS 0 0 0 1 0 1
SBDS 0 0 0 0 1 1
SBF1 0 0 1 0 0 1
SCN1A 1 0 0 0 0 1
SCN3A 0 0 0 1 0 1
SCN4A 0 0 0 0 1 1
SCO2, TYMP 0 0 1 0 0 1
SDHC 0 0 0 0 1 1
SERPINF1 0 0 1 0 0 1
SFTPD 0 0 1 0 0 1
SH3TC2 0 0 1 0 0 1
SHOC2 0 0 1 0 0 1
SIL1 0 0 1 0 0 1
SIRT1 0 0 1 0 0 1
SLC12A6 0 0 1 0 0 1
SLC26A4 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 1
SLC34A1 0 0 0 0 1 1
SLC35C1 0 0 0 1 0 1
SLC46A1 0 0 1 0 0 1
SLC9A9 0 0 0 1 0 1
SLCO1B3 0 0 1 0 0 1
SMAD3 0 0 1 0 0 1
SMARCA4 0 0 0 0 1 1
SMCHD1 0 0 1 0 0 1
SMPD1 0 0 1 0 0 1
SMPD4 0 0 1 0 0 1
SNIP1 0 0 1 0 0 1
SOX7 0 0 1 0 0 1
SPART 0 0 1 0 0 1
SPDL1 0 0 1 0 0 1
SPEN 0 0 1 0 0 1
SPOCK1 0 0 0 0 1 1
SPTLC1 0 0 0 0 1 1
ST5 0 0 1 0 0 1
STAT1 0 0 0 0 1 1
STAT5B 0 0 1 0 0 1
SUCLG1 0 0 1 0 0 1
SYN1 0 0 1 0 0 1
SYNE4 0 0 1 0 0 1
SYNGAP1 0 0 0 0 1 1
SYP 0 0 1 0 0 1
SZT2 0 0 1 0 0 1
TBC1D24 0 0 1 0 0 1
TBC1D7, TBC1D7-LOC100130357 0 0 0 1 0 1
TBK1 0 0 1 0 0 1
TBL1XR1 0 0 1 0 0 1
TBXAS1 0 1 0 0 0 1
TBXT 0 0 1 0 0 1
TCF3 0 0 1 0 0 1
TCF4 0 0 0 0 1 1
TCTN3 0 0 0 0 1 1
TDP2 0 0 1 0 0 1
TGFBR1 0 0 0 1 0 1
TGIF1 0 0 1 0 0 1
TM4SF19, TM4SF19-TCTEX1D2 0 0 1 0 0 1
TMC3 0 0 0 0 1 1
TMEM132E 0 0 1 0 0 1
TMEM70 0 0 0 0 1 1
TNC 0 0 0 0 1 1
TNFAIP3 0 0 1 0 0 1
TNFRSF8 0 0 1 0 0 1
TNFRSF9 0 0 0 0 1 1
TNNI3 0 0 0 1 0 1
TNNT3 0 0 1 0 0 1
TOP2A 0 0 1 0 0 1
TPO 0 0 1 0 0 1
TPRN 0 0 1 0 0 1
TRAF3 0 0 1 0 0 1
TRPM6 0 0 0 1 0 1
TRPS1 0 0 1 0 0 1
TSHR 0 0 0 1 0 1
TSPEAR 0 0 1 0 0 1
TSPYL2 0 0 0 1 0 1
TTBK1 0 0 1 0 0 1
TTC21B 0 0 0 0 1 1
UBE3B 0 0 0 0 1 1
UCHL1 0 0 1 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 1 0 0 1
UGT1A, UGT1A10, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 1 0 0 1
UROC1 0 0 1 0 0 1
USF3 0 0 0 1 0 1
USH1C 0 0 0 0 1 1
USP27X 0 0 1 0 0 1
VARS2 0 0 1 0 0 1
VIPAS39 0 0 1 0 0 1
VPS33B 0 0 1 0 0 1
VPS45 0 0 1 0 0 1
WAS 0 0 0 0 1 1
WDR11 0 0 1 0 0 1
WDR19 0 0 0 1 0 1
WDR62 0 0 0 0 1 1
WNK1 0 0 0 0 1 1
WNT1 0 0 0 1 0 1
WNT2B 0 0 1 0 0 1
WWOX 0 0 0 0 1 1
XIRP1 0 0 0 0 1 1
ZBTB20 0 0 0 0 1 1
ZC4H2 0 1 0 0 0 1
ZCCHC8 0 0 1 0 0 1
ZDHHC15 0 0 0 0 1 1
ZMYM3 0 0 1 0 0 1
ZNF292 0 0 1 0 0 1
ZNF407 0 0 0 0 1 1
ZNF674 0 0 0 0 1 1
ZNF778 0 0 0 0 1 1
ZNF804A 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 72
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 532 125 288 944
Von Hippel-Lindau syndrome 120 35 34 7 2 198
not provided 59 13 11 3 3 89
Blepharophimosis, ptosis, and epicanthus inversus 38 8 13 1 2 62
Multiple fibrofolliculomas 41 4 12 1 2 60
Multiple cutaneous leiomyomas 36 8 10 0 0 54
Deafness, autosomal recessive 1A 23 4 13 2 5 47
CHARGE association 26 3 6 0 6 41
Hereditary breast and ovarian cancer syndrome 0 0 16 13 10 39
Arrhythmogenic right ventricular cardiomyopathy 0 0 24 7 5 36
Lynch syndrome 0 0 16 2 13 31
Familial hypercholesterolemia 0 0 17 5 8 30
Cylindromatosis, familial 18 0 4 0 0 22
Crouzon syndrome 14 2 0 0 0 16
Familial multiple polyposis syndrome 0 0 9 1 6 16
Pfeiffer syndrome 12 4 0 0 0 16
Malignant hypothermia 0 0 11 0 3 14
Neuroblastoma 3 12 1 1 0 0 14
Tuberous sclerosis 2 0 0 4 1 5 10
Aortic aneurysm, familial thoracic 4 0 0 7 0 0 7
Long QT syndrome 2 0 0 4 2 1 7
Craniosynostosis, nonspecific 0 1 4 1 0 6
Loeys-Dietz syndrome 0 0 4 2 0 6
Long QT syndrome 3; Brugada syndrome 0 0 4 0 2 6
Spiegler-Brooke syndrome 5 0 1 0 0 6
Catecholaminergic polymorphic ventricular tachycardia 0 0 3 1 1 5
Craniofrontonasal dysplasia 1 2 1 0 1 5
Marfan syndrome 0 0 2 0 3 5
Multiple endocrine neoplasia 0 0 1 0 4 5
Tuberous sclerosis 1 0 0 1 0 4 5
Brugada syndrome 1; Long QT syndrome 3 0 0 1 2 1 4
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 2 0 2 4
Fabry disease 0 1 2 0 1 4
Familial hypertrophic cardiomyopathy 1 0 0 1 1 2 4
MYH-associated polyposis 1 0 1 1 1 4
Rett syndrome, congenital variant 1 1 0 2 0 4
Thoracic aortic aneurysm and aortic dissection 0 0 4 0 0 4
Acrocephalosyndactyly type I 2 1 0 0 0 3
Dilated cardiomyopathy 1A 0 0 2 0 1 3
Ehlers-Danlos syndrome, type 4 0 0 1 0 2 3
Hypercholesterolemia, autosomal dominant, 3 0 0 1 1 1 3
Li-Fraumeni syndrome 1 0 0 1 0 2 3
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 0 2 1 0 3
Paragangliomas 1 0 0 1 0 2 3
Cardiomyopathy 0 0 1 1 0 2
Crouzon syndrome with acanthosis nigricans 1 0 1 0 0 2
Jackson-Weiss syndrome 2 0 0 0 0 2
Long QT syndrome 1 0 1 1 0 0 2
Malignant hyperthermia 0 0 1 0 1 2
Paragangliomas 4 1 0 0 0 1 2
Peutz-Jeghers syndrome 0 0 2 0 0 2
Retinoblastoma 0 0 1 0 1 2
Breast and colorectal cancer, susceptibility to 0 1 0 0 0 1
Cutis Gyrata syndrome of Beare and Stevenson 1 0 0 0 0 1
Deafness, autosomal dominant 3a 1 0 0 0 0 1
Deafness, autosomal recessive 28 0 0 0 1 0 1
Erythrocytosis, familial, 2 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 10 0 0 1 0 0 1
Familial medullary thyroid carcinoma 0 0 0 0 1 1
Familial multiple trichoepitheliomata 0 0 1 0 0 1
Frontonasal dysplasia 2 0 0 1 0 0 1
Frontonasal dysplasia 3 0 0 0 0 1 1
Ichthyosis vulgaris 1 0 0 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1 0 0 0 0 1
Muenke syndrome 1 0 0 0 0 1
Neurofibromatosis, type 2 0 0 1 0 0 1
PTEN hamartoma tumor syndrome 0 0 1 0 0 1
Paragangliomas 3 0 0 0 0 1 1
Pseudohypoaldosteronism 1 0 0 0 0 1
Syndromic intellectual disability 1 0 0 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 1
Wilms tumor 1 0 0 0 1 0 1

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