ClinVar Miner

Variants from Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Location: Denmark  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
491 522 247 25 6 1284

Gene and significance breakdown #

Total genes and gene combinations: 411
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 75 5 5 14 4 103
BRCA1 45 3 0 3 0 51
ABCA4 16 30 5 0 0 49
USH2A 12 21 15 0 0 48
MSH6 21 19 2 0 0 42
TP53 15 20 4 0 0 39
EYS 8 12 4 0 0 24
STK11 20 4 0 0 0 24
BRCA1, LOC126862571 18 0 1 0 0 19
BEST1 7 9 2 0 0 18
PRPH2 3 7 6 0 0 16
ATM 10 4 1 0 0 15
CHEK2 2 8 5 0 0 15
CRB1 4 8 3 0 0 15
PRPF31 2 9 4 0 0 15
RP1 2 9 3 0 0 14
NF1 11 1 0 0 0 12
PALB2 9 3 0 0 0 12
RHO 7 5 0 0 0 12
RPGR 4 7 1 0 0 12
CNGB1 1 6 4 0 0 11
PDE6B 1 7 3 0 0 11
SDHB 5 5 0 0 1 11
TYR 8 3 0 0 0 11
DICER1 8 0 1 1 0 10
PDE6A 3 6 0 0 0 9
ATM, C11orf65 6 2 0 0 0 8
CDH1 2 4 2 0 0 8
CEP290 3 3 2 0 0 8
RAD51C 1 4 3 0 0 8
TARS2 1 7 1 0 0 8
ABCA4, LOC126805793 2 2 3 0 0 7
ANKRD11 4 3 0 0 0 7
CACNA1F 2 2 3 0 0 7
CRX 0 4 3 0 0 7
MERTK 0 5 2 0 0 7
MYO7A 1 1 5 0 0 7
NR2E3 2 5 0 0 0 7
POLR2F, SOX10 5 2 0 0 0 7
BAP1 3 1 1 1 0 6
CDH23 1 3 2 0 0 6
GUCY2D 0 4 2 0 0 6
MSH2 0 2 1 3 0 6
POT1 0 4 2 0 0 6
SDHC 1 2 2 1 0 6
AIPL1 2 1 2 0 0 5
BRIP1 0 5 0 0 0 5
HARS2 0 5 0 0 0 5
PKD1 2 2 1 0 0 5
PROM1 1 2 2 0 0 5
RAD51D, RAD51L3-RFFL 0 5 0 0 0 5
BBS1, ZDHHC24 1 2 1 0 0 4
BBS2 3 1 0 0 0 4
CNGB3 2 2 0 0 0 4
EYS, PHF3 1 2 1 0 0 4
GPHN, RDH12 1 3 0 0 0 4
IMPDH1 0 2 2 0 0 4
LOX, SRFBP1 1 2 1 0 0 4
MLH1 3 1 0 0 0 4
RP2 1 3 0 0 0 4
RPE65 2 1 1 0 0 4
BARD1 0 3 0 0 0 3
BTK, TIMM8A 3 0 0 0 0 3
CDHR1 2 1 0 0 0 3
CERKL 1 3 0 0 0 3
COL1A1 1 2 0 0 0 3
COL4A3, MFF-DT 0 3 0 0 0 3
CREBBP 1 2 0 0 0 3
FAM161A 2 1 0 0 0 3
FANCM 0 3 0 0 0 3
FBN1 3 0 0 0 0 3
IMPG2 0 2 1 0 0 3
KMT2A 2 1 0 0 0 3
MKKS 0 2 1 0 0 3
OCA2 1 2 0 0 0 3
PCARE 0 1 2 0 0 3
PKD2 3 0 0 0 0 3
RAI1 0 3 0 0 0 3
SALL1 1 1 1 0 0 3
SDHD 2 0 0 0 1 3
SETD5 3 0 0 0 0 3
SMAD3 0 1 1 1 0 3
TRIO 0 3 0 0 0 3
TTC8 0 1 2 0 0 3
TULP1 0 1 2 0 0 3
WRN 0 3 0 0 0 3
ADGRV1 0 2 0 0 0 2
ADPRS 0 1 1 0 0 2
ARID1B 1 1 0 0 0 2
ATP6V0A1 0 0 2 0 0 2
B4GALT7 0 0 2 0 0 2
BBS12 0 2 0 0 0 2
BBS9 0 2 0 0 0 2
CABP4 1 2 1 0 0 2
CBS 1 1 0 0 0 2
CHM 1 1 0 0 0 2
CHRNG 1 1 0 0 0 2
CLCN4 1 0 1 0 0 2
CNKSR2 0 0 2 0 0 2
CNTNAP1 0 2 0 0 0 2
COL3A1 0 1 1 0 0 2
COL4A1 1 1 0 0 0 2
COL4A2 0 1 1 0 0 2
COQ4 0 1 1 0 0 2
DMAP1 0 1 1 0 0 2
EPG5 0 0 2 0 0 2
ETFDH 0 2 0 0 0 2
FLNA 0 2 0 0 0 2
FLVCR1 0 1 1 0 0 2
FOXP1 2 0 0 0 0 2
FRAS1 1 0 1 0 0 2
GLI3 0 1 1 0 0 2
GPR179 0 0 2 0 0 2
GRM6 1 0 1 0 0 2
GRM6, ZNF454 1 0 1 0 0 2
HSPG2 0 1 1 0 0 2
IQCB1 0 2 0 0 0 2
KARS1 0 1 1 0 0 2
KIT 2 0 0 0 0 2
LOC130068202, RP2 1 1 0 0 0 2
LRSAM1 0 1 1 0 0 2
MAK 0 2 0 0 0 2
MCOLN1 0 0 2 0 0 2
MFN2 1 0 1 0 0 2
MLH3 0 2 0 0 0 2
MPZ 1 1 0 0 0 2
MUTYH 2 0 0 0 0 2
MYH3 0 1 1 0 0 2
NDUFA8 0 1 1 0 0 2
PCDH15 0 2 0 0 0 2
PIK3CA 2 0 0 0 0 2
PITPNM3 0 0 2 0 0 2
PMS2 1 0 0 1 0 2
PTPN11 1 1 0 0 0 2
ROR2 1 0 1 0 0 2
RYR1 0 1 1 0 0 2
SAMHD1 0 2 0 0 0 2
SC5D 0 1 1 0 0 2
SLC25A46 0 0 2 0 0 2
SNRNP200 0 1 1 0 0 2
STIL 0 1 1 0 0 2
TCF20 2 0 0 0 0 2
TCF4 1 1 0 0 0 2
TGFB2 1 0 1 0 0 2
TOPORS 1 0 1 0 0 2
TRPM1 0 0 2 0 0 2
TSC2 0 1 1 0 0 2
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 1 1 0 0 2
WDR62 0 0 2 0 0 2
ZNF142 0 2 0 0 0 2
AAGAB 1 0 0 0 0 1
ABCA4, LOC126805794 0 1 0 0 0 1
ACO2, POLR3H 1 0 0 0 0 1
ACTB 0 1 0 0 0 1
ACVRL1 0 0 1 0 0 1
ADCY5 0 0 1 0 0 1
ADGRA3 0 1 0 0 0 1
ALMS1 0 1 0 0 0 1
ALPL 1 0 0 0 0 1
APC 1 0 0 0 0 1
AQP2, AQP5 0 0 1 0 0 1
ARID2 1 0 0 0 0 1
ASPM 0 1 0 0 0 1
ASXL3 1 0 0 0 0 1
AVPR2 0 0 1 0 0 1
B9D1 0 0 1 0 0 1
BBS10 1 0 0 0 0 1
BBS4 0 1 0 0 0 1
BBS5 1 0 0 0 0 1
BBS7 0 1 0 0 0 1
BCL11A 1 0 0 0 0 1
BCOR 1 0 0 0 0 1
BICD2 0 0 1 0 0 1
BLM 0 1 0 0 0 1
BLOC1S1-RDH5, RDH5 0 1 0 0 0 1
BLOC1S6 1 0 0 0 0 1
BMPR1B 0 0 1 0 0 1
BMPR2 0 1 0 0 0 1
C10orf105, CDH23 0 0 1 0 0 1
CA4 0 0 1 0 0 1
CACNA1A 1 0 0 0 0 1
CACNA2D4 0 1 0 0 0 1
CACNG2 0 0 1 0 0 1
CAMTA1 0 1 0 0 0 1
CAPN3 0 1 0 0 0 1
CCDC22 0 0 1 0 0 1
CDH3 0 1 0 0 0 1
CDK13 0 1 0 0 0 1
CDKN2A, LOC130001603 0 0 1 0 0 1
CEP152 0 1 0 0 0 1
CHD2 0 1 0 0 0 1
CHD8 0 1 0 0 0 1
CLN6 0 1 0 0 0 1
CLRN1 0 1 0 0 0 1
CNGA1, LOC101927157 0 1 0 0 0 1
CNNM4 0 0 1 0 0 1
CNPY2 0 1 0 0 0 1
COL11A1 0 1 0 0 0 1
COL12A1 0 1 0 0 0 1
COL27A1, LOC126860736 0 1 0 0 0 1
COL2A1 0 0 1 0 0 1
COL4A5 0 0 1 0 0 1
COL5A1 1 0 0 0 0 1
COL5A1, LOC101448202 1 0 0 0 0 1
COL6A1 1 0 0 0 0 1
COL6A2 0 1 0 0 0 1
COL6A3 1 0 0 0 0 1
COMP 0 1 0 0 0 1
COQ4, LOC130002704 0 0 1 0 0 1
CUL3 0 1 0 0 0 1
CUL4B 0 0 1 0 0 1
CYLD 1 0 0 0 0 1
DCAF17 0 1 0 0 0 1
DCTN5, PALB2 1 0 0 0 0 1
DDB2 0 1 0 0 0 1
DMD 0 0 1 0 0 1
DMP1, DSPP 0 1 0 0 0 1
DNM2 0 0 1 0 0 1
DNMT1 0 0 1 0 0 1
DOCK6 0 1 0 0 0 1
DONSON 0 1 0 0 0 1
DROSHA 1 0 0 0 0 1
DSG1 0 1 0 0 0 1
ECEL1 0 1 0 0 0 1
EDA 1 0 0 0 0 1
EHMT1 1 0 0 0 0 1
ELN 0 0 1 0 0 1
ENG 1 0 0 0 0 1
FBXO11 0 1 0 0 0 1
FBXO11, LOC100506235 0 0 1 0 0 1
FBXO7 0 1 0 0 0 1
FGD1 0 1 0 0 0 1
GAN 0 0 1 0 0 1
GANAB 0 1 0 0 0 1
GBF1 0 0 1 0 0 1
GDF6 0 1 0 0 0 1
GJB1 1 0 0 0 0 1
GLDC 1 0 0 0 0 1
GLMN 0 1 0 0 0 1
GNAS 0 1 0 0 0 1
GNAT1 0 0 1 0 0 1
GOSR2, LOC126862578, LRRC37A2 0 1 0 0 0 1
GOSR2, LRRC37A2 1 0 0 0 0 1
GPHN, RDH12, ZFYVE26 0 0 1 0 0 1
GRIN1 1 0 0 0 0 1
GRIN2A 0 1 0 0 0 1
GRIN2B 0 1 0 0 0 1
GRK1 0 1 0 0 0 1
GRN 1 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 1 0 0 0 0 1
H1-4 1 0 0 0 0 1
HEXB 0 0 1 0 0 1
HMGA2 1 0 0 0 0 1
HNF4A 0 0 1 0 0 1
HOXB13 0 1 0 0 0 1
HPS1 1 0 0 0 0 1
HPS4 1 0 0 0 0 1
HPS4, LOC126863105 1 0 0 0 0 1
HSPB1 0 1 0 0 0 1
HUWE1 0 1 0 0 0 1
HYCC1 0 1 0 0 0 1
IDH3A 0 0 1 0 0 1
IDH3B 0 1 0 0 0 1
IDUA 0 0 1 0 0 1
IGF2, INS-IGF2 0 1 0 0 0 1
IMPA1 0 1 0 0 0 1
IPO8 0 1 0 0 0 1
IRF2BPL 1 0 0 0 0 1
ITPR3 0 1 0 0 0 1
JMJD8, STUB1 0 0 1 0 0 1
KAT6B 1 0 0 0 0 1
KCNT2 0 1 0 0 0 1
KCNV2 1 0 0 0 0 1
KDM5C 1 0 0 0 0 1
KDM6A 0 0 1 0 0 1
KIF11 1 0 0 0 0 1
KMT2B 0 1 0 0 0 1
KMT2C 0 1 0 0 0 1
KMT2D, LOC126861520 1 0 0 0 0 1
KMT5B 1 0 0 0 0 1
KRAS 0 1 0 0 0 1
KRT6A 1 0 0 0 0 1
LAMP2 0 1 0 0 0 1
LETM1 0 0 1 0 0 1
LINS1 0 1 0 0 0 1
LMNA 0 1 0 0 0 1
LOC107303340, VHL 0 1 0 0 0 1
LOC107982234, WT1 1 0 0 0 0 1
LOC111828517, RAB28 0 0 1 0 0 1
LOC121740638, TFAP2A 0 1 0 0 0 1
LOC122152296, USH2A 0 0 1 0 0 1
LOC126807125, SLC39A8 0 0 1 0 0 1
LOC126860392, RP1 0 0 1 0 0 1
LOC126861242, NDUFV1 0 0 1 0 0 1
LOC129390903, RAD51C 0 0 1 0 0 1
LOC129929542, SDHB 1 0 0 0 0 1
LOC129933707, MSH6 0 1 0 0 0 1
LOC130003079, MAN1B1 0 1 0 0 0 1
LOC130008058, SMARCC2 0 1 0 0 0 1
LOC130055403, TINF2 0 0 1 0 0 1
LOC130062794, TXNL4A 0 0 1 0 0 1
LOC130062899, STK11 1 0 0 0 0 1
LOC130068098, RPGR 1 0 0 0 0 1
LRAT 0 1 0 0 0 1
LRP2 0 0 1 0 0 1
LRP6 1 0 0 0 0 1
MAP2K1 0 1 0 0 0 1
MAST1 0 1 0 0 0 1
MECP2 0 1 0 0 0 1
MED13L 1 0 0 0 0 1
MERTK, MKS1 1 0 0 0 0 1
MITF 0 1 0 0 0 1
MKS1 0 1 0 0 0 1
MMP13 0 0 1 0 0 1
MRPL39 0 1 0 0 0 1
MSX2 0 0 1 0 0 1
MT-TE 0 1 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 1
MYEF2, SLC24A5 0 0 1 0 0 1
MYL1 0 1 0 0 0 1
MYLK 0 0 1 0 0 1
NAA15 1 0 0 0 0 1
NBN 0 1 0 0 0 1
NDUFV1 0 0 1 0 0 1
NEB, RIF1 0 1 0 0 0 1
NOD2 0 0 1 0 0 1
NONO 0 1 0 0 0 1
NOTCH2 0 1 0 0 0 1
NPHP1 0 1 0 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 0 0 1
NRAS 0 1 0 0 0 1
NSD2 0 1 0 0 0 1
OTOA 0 0 1 0 0 1
PACS2 0 1 0 0 0 1
PBX1 0 1 0 0 0 1
PCDH12, RNF14 0 1 0 0 0 1
PDGFB 0 0 1 0 0 1
PIK3R1 1 1 0 0 0 1
POLG 0 0 1 0 0 1
POU3F3 0 1 0 0 0 1
PPP1CB 1 0 0 0 0 1
PPP1R12A 0 1 0 0 0 1
PPP2CA 1 0 0 0 0 1
PPP2R5D 0 1 0 0 0 1
PRMT7 0 0 1 0 0 1
PRPF8 0 0 1 0 0 1
PSEN1 0 1 0 0 0 1
PSMD12 1 0 0 0 0 1
PTEN 0 1 0 0 0 1
PURA 0 1 0 0 0 1
RAB39B 0 0 1 0 0 1
RET 1 0 0 0 0 1
RGS9 1 0 0 0 0 1
RLBP1 0 1 0 0 0 1
ROM1 0 0 1 0 0 1
RPGRIP1 1 0 0 0 0 1
SACS 0 1 0 0 0 1
SAG 0 1 0 0 0 1
SASS6 0 0 1 0 0 1
SCN8A 0 1 0 0 0 1
SCUBE3 0 0 1 0 0 1
SETD2 0 0 1 0 0 1
SKI 0 1 0 0 0 1
SLC24A5 0 1 0 0 0 1
SLC34A1 0 0 1 0 0 1
SLC39A8 0 0 1 0 0 1
SLC52A2 0 0 1 0 0 1
SLC6A1 0 0 1 0 0 1
SMARCA4 0 1 0 0 0 1
SMC1A 0 1 0 0 0 1
SMOC2 0 0 1 0 0 1
SNHG14, UBE3A 0 1 0 0 0 1
SOX2, SOX2-OT 1 0 0 0 0 1
SOX3 0 1 0 0 0 1
SPAST 1 0 0 0 0 1
SPIN4 0 0 1 0 0 1
SPTAN1 0 1 0 0 0 1
ST3GAL5 0 0 1 0 0 1
STIM1 0 1 0 0 0 1
STRA6 0 0 1 0 0 1
SZT2 0 1 0 0 0 1
TAF1 0 0 1 0 0 1
TAFAZZIN 0 0 1 0 0 1
TARDBP 0 1 0 0 0 1
TBL1XR1 0 1 0 0 0 1
TERT 0 0 1 0 0 1
TGFBR2 0 0 1 0 0 1
TIMM8A 1 0 0 0 0 1
TNXB 1 0 0 0 0 1
TRAF7 0 1 0 0 0 1
TSC1 1 0 0 0 0 1
TUBB 0 0 1 0 0 1
TUBB2B 0 1 0 0 0 1
TUBB3 0 1 0 0 0 1
TWNK 0 0 1 0 0 1
TXNL4A 0 1 0 0 0 1
UBAP1 0 1 0 0 0 1
UBE2T 0 1 0 0 0 1
USH1C 1 0 0 0 0 1
VLDLR 0 1 0 0 0 1
WAC 1 0 0 0 0 1
WDR26 1 0 0 0 0 1
WHRN 0 1 0 0 0 1
YARS1 0 0 1 0 0 1
YY1 0 1 0 0 0 1
YY1AP1 0 1 0 0 0 1
ZBTB18 0 1 0 0 0 1
ZEB2 1 0 0 0 0 1
ZMYND11 1 0 0 0 0 1
ZNF41 0 0 1 0 0 1
ZNF469 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 322
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Retinitis pigmentosa 72 145 70 0 0 287
Breast-ovarian cancer, familial, susceptibility to, 2 70 2 2 6 2 82
Breast-ovarian cancer, familial, susceptibility to, 1 55 0 0 2 0 57
Hereditary cancer-predisposing syndrome 15 29 8 1 1 54
Lynch syndrome 22 22 3 4 0 51
Stargardt disease 15 29 7 0 0 51
Li-Fraumeni syndrome 15 20 4 0 0 39
Macular dystrophy 11 15 6 0 0 32
Familial cancer of breast 11 5 6 8 1 31
Peutz-Jeghers syndrome 21 4 0 0 0 25
Leber congenital amaurosis 10 8 5 0 0 23
Retinal dystrophy 6 9 7 0 0 22
Cone-rod dystrophy 7 11 1 0 0 19
Hereditary pheochromocytoma and paraganglioma 6 7 2 1 2 18
Familial cancer of breast; Ataxia-telangiectasia syndrome 12 4 1 0 0 17
Progressive cone dystrophy (without rod involvement) 5 4 4 0 0 13
Neurofibromatosis, type 1 11 1 0 0 0 12
Oculocutaneous albinism type 1 8 3 0 0 0 11
Vitelliform macular dystrophy 2 3 8 0 0 0 11
DICER1-related tumor predisposition 8 0 1 1 0 10
Combined oxidative phosphorylation defect type 21 1 7 0 0 0 8
Bardet-Biedl syndrome 3 3 1 0 0 7
KBG syndrome 4 3 0 0 0 7
Waardenburg syndrome type 1 5 2 0 0 0 7
not provided 2 3 2 0 0 7
Achromatopsia 3 2 1 0 0 6
BAP1-related tumor predisposition syndrome 3 1 1 1 0 6
Congenital stationary night blindness 1 2 3 0 0 6
Hereditary diffuse gastric adenocarcinoma 2 4 0 0 0 6
Tumor predisposition syndrome 3 0 4 2 0 0 6
Usher syndrome 5 1 0 0 0 6
Aland island eye disease 1 3 1 0 0 5
Perrault syndrome 2 0 5 0 0 0 5
Polycystic kidney disease, adult type 2 2 1 0 0 5
Aortic aneurysm, familial thoracic 10 1 2 1 0 0 4
Ataxia-telangiectasia syndrome 2 2 0 0 0 4
Colorectal cancer, hereditary nonpolyposis, type 2 3 1 0 0 0 4
Deafness dystonia syndrome 4 0 0 0 0 4
Vitreoretinopathy 2 0 2 0 0 4
Autosomal dominant Alport syndrome 0 3 0 0 0 3
Fanconi anemia 0 3 0 0 0 3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 3 0 0 0 0 3
Marfan syndrome 3 0 0 0 0 3
Mitochondrial complex 2 deficiency, nuclear type 4 3 0 0 0 0 3
Polycystic kidney disease 2 3 0 0 0 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 1 2 0 0 0 3
Smith-Magenis syndrome 0 3 0 0 0 3
Townes-Brocks syndrome 1 1 1 1 0 0 3
Tyrosinase-positive oculocutaneous albinism 1 2 0 0 0 3
Werner syndrome 0 3 0 0 0 3
Wiedemann-Steiner syndrome 2 1 0 0 0 3
Abnormal facial shape 0 1 1 0 0 2
Aicardi-Goutieres syndrome 5; Prostate cancer susceptibility 0 2 0 0 0 2
Aneurysm-osteoarthritis syndrome 0 1 1 0 0 2
Ataxia-telangiectasia syndrome; ATM-related cancer predisposition 2 0 0 0 0 2
Autosomal recessive Robinow syndrome 1 0 1 0 0 2
Autosomal recessive multiple pterygium syndrome 1 1 0 0 0 2
Bietti crystalline corneoretinal dystrophy 1 0 1 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 1 1 0 0 0 2
Brain small vessel disease 2A, autosomal dominant 0 1 1 0 0 2
CDH1-related diffuse gastric and lobular breast cancer syndrome 0 0 2 0 0 2
CLOVES syndrome 1 1 0 0 0 2
Cardiac, facial, and digital anomalies with developmental delay 0 1 1 0 0 2
Central core myopathy 0 1 1 0 0 2
Charcot-Marie-Tooth disease axonal type 2P 0 1 1 0 0 2
Charcot-Marie-Tooth disease type 1B 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 2A2 1 0 1 0 0 2
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 1 1 0 0 2
Classic homocystinuria 1 1 0 0 0 2
Coffin-Siris syndrome 1 1 1 0 0 0 2
Colorectal cancer, hereditary nonpolyposis, type 7 0 2 0 0 0 2
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 0 0 0 0 2
Distal arthrogryposis 0 1 1 0 0 2
Dyskeratosis congenita 0 0 2 0 0 2
Ehlers-Danlos syndrome, classic type, 1 2 0 0 0 0 2
Ehlers-Danlos syndrome, spondylodysplastic type, 1 0 0 2 0 0 2
Ehlers-Danlos syndrome, type 4 0 1 1 0 0 2
Familial adenomatous polyposis 2 2 0 0 0 0 2
Familial thoracic aortic aneurysm and aortic dissection 0 0 1 1 0 2
Fraser syndrome 1 1 0 1 0 0 2
Gastrointestinal stromal tumor 2 0 0 0 0 2
Gilbert syndrome 0 1 1 0 0 2
Hermansky-Pudlak syndrome 4 2 0 0 0 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 1 0 0 2
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 2 0 0 0 2
Intellectual disability, X-linked 49 1 0 1 0 0 2
Intellectual disability, X-linked, syndromic, Houge type 0 0 2 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 0 0 0 0 2
Isolated focal cortical dysplasia type II 1 0 1 0 0 2
Lathosterolosis 0 1 1 0 0 2
Lethal congenital contracture syndrome 7 0 2 0 0 0 2
Loeys-Dietz syndrome 4 1 0 1 0 0 2
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 0 2 0 0 2
Microcephaly 7, primary, autosomal recessive 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 37 0 1 1 0 0 2
Mitochondrial complex I deficiency, nuclear type 4 0 0 2 0 0 2
Mucolipidosis type IV 0 0 2 0 0 2
Multiple acyl-CoA dehydrogenase deficiency 0 2 0 0 0 2
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 1 1 0 0 2
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 1 0 0 2
Neurodevelopmental disorder with epilepsy and brain atrophy 0 0 2 0 0 2
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 2 0 0 0 2
Neuropathy, hereditary motor and sensory, type 6B 0 0 2 0 0 2
Oculocutaneous albinism type 6 0 1 1 0 0 2
Osteogenesis imperfecta type I 0 2 0 0 0 2
Pitt-Hopkins syndrome 1 1 0 0 0 2
Polydactyly, postaxial, type A1 0 1 1 0 0 2
Progressive myoclonic epilepsy type 6 1 1 0 0 0 2
SLC39A8-CDG 0 0 2 0 0 2
Seizure; Abnormal facial shape; Intellectual disability 0 1 1 0 0 2
Ullrich congenital muscular dystrophy 1A 2 0 0 0 0 2
Vici syndrome 0 0 2 0 0 2
3-Methylglutaconic aciduria type 2 0 0 1 0 0 1
Aarskog syndrome 0 1 0 0 0 1
Abnormal retinal morphology; Sensory neuropathy 0 0 1 0 0 1
Acromesomelic dysplasia 3 0 0 1 0 0 1
Adams-Oliver syndrome 2 0 1 0 0 0 1
Adult hypophosphatasia 1 0 0 0 0 1
Alzheimer disease 3 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 10 0 1 0 0 0 1
Angelman syndrome 0 1 0 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 0 0 1
Autism; Neurodevelopmental delay 0 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 16 0 0 1 0 0 1
Baraitser-Winter syndrome 1 0 1 0 0 0 1
Basal ganglia calcification, idiopathic, 5 0 0 1 0 0 1
Becker muscular dystrophy 0 0 1 0 0 1
Bethlem myopathy 1A 0 1 0 0 0 1
Bethlem myopathy 2 0 1 0 0 0 1
Blau syndrome 0 0 1 0 0 1
Bloom syndrome 0 1 0 0 0 1
Branchiooculofacial syndrome 0 1 0 0 0 1
Brittle cornea syndrome 1 0 0 1 0 0 1
Brooke-Spiegler syndrome 1 0 0 0 0 1
Brown-Vialetto-van Laere syndrome 2 0 0 1 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 0 1
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 0 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 1 0 0 0 1
Ceroid lipofuscinosis, neuronal, 6A 0 1 0 0 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 1 0 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate C 0 0 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1J 0 1 0 0 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 0 0 1
Coffin-Siris syndrome 6 1 0 0 0 0 1
Coffin-Siris syndrome 8 0 1 0 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 1 0 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 0 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 6 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 0 0 1
Congenital myopathy with reduced type 2 muscle fibers 0 1 0 0 0 1
Craniosynostosis 2 0 0 1 0 0 1
Craniosynostosis syndrome; Abnormality of the face 0 1 0 0 0 1
Cutis laxa, autosomal dominant 1 0 0 1 0 0 1
Danon disease 0 1 0 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 0 1
Dentin dysplasia type I 0 0 1 0 0 1
Dentinogenesis imperfecta type 3 0 1 0 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 18 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 5 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 57 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 66 0 1 0 0 0 1
Diabetes insipidus, nephrogenic, X-linked 0 0 1 0 0 1
Diabetes insipidus, nephrogenic, autosomal 0 0 1 0 0 1
Dias-Logan syndrome 1 0 0 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 0 1 0 0 0 1
Distal arthrogryposis type 5D 0 1 0 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 0 1 0 0 1
Dystonia 28, childhood-onset 0 1 0 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 1 0 0 0 0 1
Epilepsy with myoclonic atonic seizures 0 0 1 0 0 1
Episodic ataxia type 2 1 0 0 0 0 1
Failure to thrive; Congenital blindness; Spastic hemiparesis 0 0 1 0 0 1
Familial melanoma 0 0 1 0 0 1
Familial multiple polyposis syndrome 1 0 0 0 0 1
Fanconi anemia complementation group T 0 1 0 0 0 1
Feingold syndrome type 1 0 1 0 0 0 1
GM3 synthase deficiency 0 0 1 0 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 1 0 0 0 0 1
Gabriele de Vries syndrome 0 1 0 0 0 1
Genitopatellar syndrome 1 0 0 0 0 1
Genitourinary and/or brain malformation syndrome 0 1 0 0 0 1
Giant axonal neuropathy 1 0 0 1 0 0 1
Global developmental delay 0 0 1 0 0 1
Global developmental delay; Abnormality of the face; Ventral hernia; Patent ductus arteriosus 0 1 0 0 0 1
Global developmental delay; Seizure; Intellectual disability 0 0 1 0 0 1
Global developmental delay; Seizure; Nystagmus; Microcephaly 0 1 0 0 0 1
Glomuvenous malformation 0 1 0 0 0 1
Glycine encephalopathy 1 1 0 0 0 0 1
Grange syndrome 0 1 0 0 0 1
Hajdu-Cheney syndrome 0 1 0 0 0 1
Hepatoblastoma 1 0 0 0 0 1
Hereditary spastic paraplegia 4 1 0 0 0 0 1
Hermansky-Pudlak syndrome 1 1 0 0 0 0 1
Hermansky-Pudlak syndrome 9 1 0 0 0 0 1
Houge-Janssens syndrome 1 0 1 0 0 0 1
Houge-Janssens syndrome 3 1 0 0 0 0 1
Hurler syndrome 0 0 1 0 0 1
Hutchinson-Gilford syndrome 0 1 0 0 0 1
Hypercalcemia, infantile, 2 0 0 1 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 0 1
Hypomyelination and Congenital Cataract 0 1 0 0 0 1
Infantile cerebellar-retinal degeneration 1 0 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 0 0 1
Intellectual disability, X-linked 72 0 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 1 0 0 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 0 0 1
Intellectual disability, X-linked, with panhypopituitarism 0 1 0 0 0 1
Intellectual disability, autosomal dominant 10 0 0 1 0 0 1
Intellectual disability, autosomal dominant 22 0 1 0 0 0 1
Intellectual disability, autosomal dominant 30 1 0 0 0 0 1
Intellectual disability, autosomal dominant 41 0 1 0 0 0 1
Intellectual disability, autosomal dominant 50 1 0 0 0 0 1
Intellectual disability, autosomal dominant 51 1 0 0 0 0 1
Intellectual disability, autosomal dominant 6 0 1 0 0 0 1
Intellectual disability, autosomal recessive 27 0 1 0 0 0 1
Intellectual disability, autosomal recessive 59 0 1 0 0 0 1
Joubert syndrome 27 0 0 1 0 0 1
Kabuki syndrome 1 1 0 0 0 0 1
Kabuki syndrome 2 0 0 1 0 0 1
Kleefstra syndrome 1 1 0 0 0 0 1
Kleefstra syndrome 2 0 1 0 0 0 1
Klippel-Feil syndrome 1, autosomal dominant 0 1 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 1
Large congenital melanocytic nevus; Epidermal nevus 0 1 0 0 0 1
Leber congenital amaurosis 1 0 1 0 0 0 1
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 0 1 0 0 1
Linear nevus sebaceous syndrome 0 1 0 0 0 1
Loeys-Dietz syndrome 2 0 0 1 0 0 1
Lui-Jee-Baron syndrome 0 0 1 0 0 1
Luscan-Lumish syndrome 0 0 1 0 0 1
Matthew-Wood syndrome 0 0 1 0 0 1
Maturity-onset diabetes of the young type 1 0 0 1 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 1 0 0 0 1
Melnick-Needles syndrome 0 1 0 0 0 1
Melorheostosis 0 1 0 0 0 1
Metachondromatosis 0 1 0 0 0 1
Microcephaly 14, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly 9, primary, autosomal recessive 0 1 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 1 0 0 0 0 1
Microcephaly, normal intelligence and immunodeficiency 0 1 0 0 0 1
Microcephaly, short stature, and limb abnormalities 0 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 0 1
Mitochondrial disease 0 1 0 0 0 1
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 0 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Multiple endocrine neoplasia, type 2 1 0 0 0 0 1
Multiple epiphyseal dysplasia type 1 0 1 0 0 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 1 0 0 0 1
Myopathy, tubular aggregate, 1 0 1 0 0 0 1
Nemaline myopathy 2 0 1 0 0 0 1
Nephronophthisis 1 0 1 0 0 0 1
Nephronophthisis 3 0 0 1 0 0 1
Neurodevelopmental disorder with or without autism or seizures 0 1 0 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 0 0 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 2B 0 1 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 2 1 0 0 0 0 1
Oculofaciocardiodental syndrome 1 0 0 0 0 1
PIK3CA related overgrowth syndrome 1 0 0 0 0 1
PTEN hamartoma tumor syndrome 0 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 0 0 1
Pachyonychia congenita 3 1 0 0 0 0 1
Palmoplantar keratoderma i, striate, focal, or diffuse 0 1 0 0 0 1
Palmoplantar keratoderma, punctate type 1A 1 0 0 0 0 1
Parkinsonian-pyramidal syndrome 0 1 0 0 0 1
Patterned macular dystrophy 1 1 0 0 0 0 1
Polycystic kidney disease 3 with or without polycystic liver disease 0 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 0 0 1 0 0 1
Prostate cancer susceptibility 0 1 0 0 0 1
Pseudohypoparathyroidism type I A 0 1 0 0 0 1
Pulmonary hypertension, primary, 1 0 1 0 0 0 1
RASopathy 1 0 0 0 0 1
Rafiq syndrome 0 1 0 0 0 1
Rahman syndrome 1 0 0 0 0 1
Rauch-Steindl syndrome 0 1 0 0 0 1
Retinal vascular dystrophy 0 1 0 0 0 1
Retinitis pigmentosa 90 0 0 1 0 0 1
Rett syndrome 0 1 0 0 0 1
Rhabdoid tumor predisposition syndrome 2 0 1 0 0 0 1
Ritscher-Schinzel syndrome 2 0 0 1 0 0 1
Sandhoff disease 0 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 0 1 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 0 1 0 0 1
Shprintzen-Goldberg syndrome 0 1 0 0 0 1
Silver-Russell syndrome 3 0 1 0 0 0 1
Silver-Russell syndrome 5 1 0 0 0 0 1
Skraban-Deardorff syndrome 1 0 0 0 0 1
Snijders blok-fisher syndrome 0 1 0 0 0 1
Spastic ataxia 10, autosomal recessive 0 0 1 0 0 1
Spastic paraparesis 0 0 1 0 0 1
Spastic paraplegia 80, autosomal dominant 0 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, Missouri type 0 0 1 0 0 1
Spondyloepiphyseal dysplasia, Stanescu type 0 0 1 0 0 1
Stankiewicz-Isidor syndrome 1 0 0 0 0 1
Steel syndrome 0 1 0 0 0 1
Syndromic X-linked intellectual disability 34 0 1 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2 0 0 1 0 0 1
Tooth agenesis, selective, 7 1 0 0 0 0 1
Tuberous sclerosis 2 0 1 0 0 0 1
VISS syndrome 0 1 0 0 0 1
Vascular Malformations and Overgrowth 1 0 0 0 0 1
Von Hippel-Lindau syndrome 0 1 0 0 0 1
Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 0 1 0 0 0 1
Wilms tumor 1 1 0 0 0 0 1
Woodhouse-Sakati syndrome 0 1 0 0 0 1
X-linked Alport syndrome 0 0 1 0 0 1
X-linked intellectual disability Cabezas type 0 0 1 0 0 1
Xeroderma pigmentosum, group E 0 1 0 0 0 1

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