ClinVar Miner

Variants from DNA and Cytogenetics Diagnostics Unit,Erasmus 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
186 11 91 464 721 1473

Gene and significance breakdown #

Total genes and gene combinations: 313
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 67 0 8 50 75 200
BRCA1 45 0 3 9 35 92
MYBPC3 21 0 9 8 24 62
MYPN 0 0 4 11 18 33
PKP2 3 0 6 10 11 30
MSH6 5 0 3 1 13 22
PCNT 0 0 0 5 17 22
DSC2 1 0 4 8 7 20
MSH2 3 0 1 4 11 19
LAMA4 0 0 1 6 11 18
PMS2 1 0 0 2 15 18
BIVM-ERCC5, ERCC5 0 1 2 7 7 17
FBN2 0 0 0 12 5 17
NPC1 0 0 1 4 12 17
JPH2 0 0 1 7 8 16
EYS 2 0 1 6 6 15
CALR3 1 0 1 2 10 14
VPS13B 0 0 0 4 10 14
ALK 0 0 0 2 11 13
BBS12 0 0 1 1 11 13
CPLANE1 0 0 0 7 6 13
MYH11, NDE1 0 0 0 10 3 13
MYH11 0 0 0 12 0 12
ASPM 0 0 0 0 11 11
MIB1 0 1 1 4 5 11
CPS1 0 0 0 1 9 10
ATM 0 0 2 7 0 9
LYST 0 0 1 7 1 9
MCPH1 0 0 0 0 9 9
MYOZ2 0 0 1 1 7 9
PNKP 1 0 0 4 4 9
SGSH 6 0 0 0 3 9
SLC20A2 0 0 0 4 5 9
COL18A1, SLC19A1 0 0 0 2 6 8
CSF1R 0 0 0 3 5 8
GPR179 0 0 0 6 2 8
IFT140 0 0 0 4 4 8
NEFH 0 0 0 1 7 8
NEK1 0 0 0 0 8 8
PRKCG 0 0 2 0 6 8
CASQ2 0 0 0 0 7 7
COQ8A 0 0 0 2 5 7
DST 0 0 3 2 2 7
GIGYF2 0 0 0 1 6 7
MAP3K1 0 0 0 0 7 7
MYL2 0 0 0 0 7 7
SACS 0 0 1 1 5 7
SLC6A3 0 0 0 1 6 7
WDR62 0 0 0 3 4 7
ACVR2B 0 0 0 1 5 6
ATM, C11orf65 0 0 3 2 1 6
BBS2 0 0 0 2 4 6
BBS9 0 0 0 1 5 6
CERKL 0 0 1 3 2 6
CTSD 0 0 0 1 5 6
EFEMP2 0 0 0 3 3 6
FLVCR1 0 0 0 0 6 6
PAH 4 2 0 0 0 6
PHYH 0 0 2 4 0 6
SLC2A10 0 0 0 4 2 6
SPG11 0 0 1 5 0 6
SQSTM1 0 0 0 2 4 6
TH 0 0 0 2 4 6
ANKRD1 0 0 1 1 3 5
ANO10 0 0 0 1 4 5
CDK5RAP2 0 0 0 0 5 5
CYP27A1 0 1 0 4 0 5
DNAAF3, TNNI3 0 0 0 0 5 5
DUOX2 1 0 0 0 4 5
FBXO7 0 0 1 1 3 5
MED17 0 0 0 0 5 5
MTTP 0 0 1 4 0 5
NAGLU 2 0 0 2 1 5
PCARE 1 0 0 2 2 5
PIK3R2 1 0 0 0 4 5
TCTN2 0 0 0 1 4 5
TGM6 0 0 0 0 5 5
TPP1 2 1 0 0 2 5
BBS7 0 0 0 1 3 4
CACNA2D4 0 0 1 3 0 4
CASQ2, VANGL1 0 0 0 0 4 4
CCM2 0 0 0 0 4 4
CDHR1 0 0 1 3 0 4
CNGB1 0 0 0 4 0 4
CTSF 0 0 0 0 4 4
DNAAF2 0 0 0 0 4 4
INVS 0 0 0 2 2 4
KCNC3 0 0 0 3 1 4
KRIT1 2 0 0 0 2 4
LPIN2 0 0 1 2 1 4
MYL3 0 0 1 1 2 4
RNASEH2C 0 0 0 4 0 4
SALL1 0 0 0 0 4 4
SPG7 2 0 0 0 2 4
SYNE2 0 0 0 1 3 4
VCAN 0 0 0 4 0 4
AGA 1 0 0 0 2 3
AKAP9 0 0 0 2 1 3
AP4E1 0 0 0 0 3 3
BBS1, ZDHHC24 0 0 0 1 2 3
BBS10 1 1 0 1 0 3
DHCR7 2 0 0 1 0 3
DLAT 0 0 0 2 1 3
FA2H 0 0 0 0 3 3
FOXE1 0 0 0 1 2 3
FSCN2 0 0 1 2 0 3
GALNS 0 1 0 0 2 3
GRIN2B 0 1 0 2 0 3
GRM6, LOC100130798 0 0 0 2 1 3
IFT140, LOC105371046 0 0 0 0 3 3
IL10RA 0 0 0 3 0 3
PDE6C 0 0 0 2 1 3
PDGFB 0 0 1 0 2 3
SHANK2 0 0 0 2 1 3
SLC19A3 0 0 0 2 1 3
SPTBN2 0 0 0 2 1 3
TBX20 0 0 1 0 2 3
TMPO 0 0 0 1 2 3
TREM2 0 0 0 2 1 3
TUBGCP6 0 0 0 2 1 3
WDPCP 0 0 0 2 1 3
ZNF423 0 0 0 3 0 3
ACTN2 0 0 0 0 2 2
ALG1 1 0 0 0 1 2
AMH 0 0 0 0 2 2
ANK2 0 0 0 2 0 2
ARHGEF10 0 0 0 1 1 2
ARL13B 0 0 0 1 1 2
ATXN1, LOC108663993 0 0 0 0 2 2
C19orf12 0 0 0 1 1 2
C8orf37 0 0 1 1 0 2
CEP164 0 0 1 1 0 2
COL18A1 0 0 0 0 2 2
CPOX 0 0 0 0 2 2
DNAAF1 0 0 0 0 2 2
FAM161A 0 0 0 1 1 2
FAS 0 0 0 2 0 2
FERMT3 0 0 0 2 0 2
FGF14 0 0 0 1 1 2
GCDH 0 0 0 1 1 2
GNPTG 1 0 0 1 0 2
GNS 0 0 0 0 2 2
GRIN2A 0 0 0 2 0 2
HGSNAT 0 0 1 0 1 2
HPS4 0 0 0 2 0 2
IFNGR2 0 0 0 2 0 2
IL12RB1 0 0 0 1 1 2
JAM3 0 0 0 0 2 2
JPH3, LOC109029536 0 0 0 0 2 2
KARS 0 0 1 0 1 2
KCNMA1 0 0 0 2 0 2
KIF1BP 0 0 0 0 2 2
KIF5A 0 0 0 2 0 2
LOC114827850, MYL2 1 0 0 0 1 2
LRBA 0 0 0 1 1 2
MLH1 0 0 0 0 2 2
MTPAP 0 0 0 0 2 2
NLRP12 0 0 0 1 1 2
PDYN 0 0 0 1 1 2
PKHD1 1 0 0 1 0 2
PNPLA6 0 0 0 1 1 2
RNASEH2A 0 0 0 1 1 2
RNASET2 0 0 0 0 2 2
SNAP29 0 0 0 0 2 2
SPINK5 0 0 0 2 0 2
SYNGAP1 1 0 0 1 0 2
SYT14 0 0 0 0 2 2
TRPM4 0 0 2 0 0 2
TTPA 1 0 0 0 1 2
ZFYVE26 0 0 0 1 1 2
ZNF469 0 0 0 1 1 2
ABCG5, DYNC2LI1 0 0 0 0 1 1
ABHD12 0 0 0 0 1 1
ADA 0 0 0 1 0 1
ADA, LOC107303343 0 0 0 1 0 1
ADAM9 0 0 0 1 0 1
ALDH18A1 0 0 0 1 0 1
ALDH3A2 0 0 0 1 0 1
ALDH5A1 0 0 0 1 0 1
ALDH7A1 0 0 0 0 1 1
ALG6 1 0 0 0 0 1
AMHR2 0 0 0 0 1 1
ANKRD11 0 0 0 1 0 1
ANO3 0 0 0 1 0 1
AP4B1 0 0 0 1 0 1
ARFGEF2 0 0 0 0 1 1
ARID1B 1 0 0 0 0 1
ATCAY 0 0 1 0 0 1
ATN1, LOC109461484 0 0 0 0 1 1
ATXN1 0 0 0 1 0 1
B3GALNT2 0 1 0 0 0 1
B3GAT3 0 0 0 0 1 1
B4GALT7 0 0 0 1 0 1
B9D2 0 0 0 0 1 1
BBS1 0 0 0 0 1 1
BCKDHA 0 0 0 1 0 1
BLOC1S6 0 0 0 1 0 1
C1QA 0 0 0 1 0 1
C1QB 0 0 0 1 0 1
C9 0 0 0 1 0 1
CABP4 0 0 0 1 0 1
CACNA1D 0 0 0 1 0 1
CAMK1, OGG1 0 0 0 1 0 1
CAPN5 0 0 0 1 0 1
CC2D1A 0 0 1 0 0 1
CD3E 0 0 0 1 0 1
CD46 0 0 0 0 1 1
CDKN1B 0 0 0 1 0 1
CHST3 0 0 0 1 0 1
COCH, LOC100506071 0 0 0 0 1 1
CSF1R, LOC111188154 0 0 0 0 1 1
CSTB 0 0 0 1 0 1
CUBN 0 0 1 0 0 1
CYP2B6 0 0 0 0 1 1
DBT 0 0 0 0 1 1
DDC 0 0 0 1 0 1
DEPDC5 0 0 0 1 0 1
DIAPH1 0 0 0 0 1 1
DNAAF2, MGAT2 0 0 0 0 1 1
DOCK6, LOC105372273 0 0 0 1 0 1
DPYD 0 0 1 0 0 1
DSC2, DSCAS 0 0 0 0 1 1
EFEMP2, MUS81 0 0 0 1 0 1
EPG5 0 0 0 0 1 1
ETFB 0 0 0 1 0 1
FANCA 0 0 0 1 0 1
FANCA, ZNF276 0 0 0 0 1 1
FOLR1 0 0 0 0 1 1
FOXG1 0 0 0 1 0 1
GLRB 0 0 0 1 0 1
GNAT2 0 0 0 1 0 1
GRK1 0 0 0 1 0 1
GUSB 0 0 1 0 0 1
HARS 0 0 0 0 1 1
HEXB 0 0 1 0 0 1
HGF 0 0 0 1 0 1
HLCS 0 0 0 1 0 1
HPS5 0 0 0 1 0 1
INS, TH 0 0 0 1 0 1
ITCH 0 0 0 1 0 1
ITK 0 0 0 1 0 1
JAK3 0 0 0 1 0 1
KCNA1 0 0 0 0 1 1
KCNJ8 0 0 0 0 1 1
KCNQ3 0 0 0 0 1 1
KIF11 0 0 0 0 1 1
KMT2D 0 0 1 0 0 1
KRT6B 0 0 0 0 1 1
LARS2 0 0 0 1 0 1
LMF1 0 0 0 0 1 1
LOC108660405, PPP2R2B 0 0 0 0 1 1
LOC108663996, TBP 0 0 0 0 1 1
LOC110121427, LRMDA 0 0 0 1 0 1
LOXHD1 0 0 0 1 0 1
LRIT3 0 0 1 0 0 1
LRRC6 0 0 0 0 1 1
MAF, WWOX 0 0 0 1 0 1
MAK 0 0 0 1 0 1
MAP2K2 0 0 0 1 0 1
MCM4 0 0 0 0 1 1
MOCS1 0 0 0 1 0 1
MRE11 0 0 0 1 0 1
NIPBL 0 0 0 0 1 1
NLRP7 0 0 0 1 0 1
NMNAT1 0 0 0 1 0 1
OCLN 0 0 0 0 1 1
OTOGL 1 0 0 0 0 1
PDSS1 0 0 0 1 0 1
PLA2G5 0 0 0 1 0 1
PLCB1 0 0 0 1 0 1
PLG 0 0 1 0 0 1
PMM2 1 0 0 0 0 1
PNKD 0 0 0 0 1 1
POLH 0 0 1 0 0 1
PRKRA 0 0 0 0 1 1
PRPF31 0 0 0 1 0 1
PSENEN 0 0 0 0 1 1
RAD21 0 0 0 1 0 1
RAD50 0 0 0 1 0 1
RFXAP 0 0 0 0 1 1
RIMS1 0 0 0 0 1 1
RNF170 0 0 0 1 0 1
SAR1B 0 0 1 0 0 1
SBDS 1 0 0 0 0 1
SEC63 0 0 0 0 1 1
SH3BP2 0 0 0 1 0 1
SIL1 0 0 0 0 1 1
SIX6 0 0 0 1 0 1
SLC29A3 0 0 0 1 0 1
SLC46A1 0 0 0 1 0 1
SMARCAL1 0 0 0 0 1 1
SP110 0 0 0 1 0 1
SPRED1 0 0 0 0 1 1
STAT3 0 0 0 1 0 1
TARDBP 0 0 0 1 0 1
TBK1 0 0 0 1 0 1
TBX5 0 0 0 0 1 1
TCIRG1 0 0 0 1 0 1
TCN2 0 0 0 1 0 1
TEAD1 0 0 0 1 0 1
TGFB2 0 0 0 0 1 1
TMEM126A 0 0 0 1 0 1
TMEM138 0 0 0 0 1 1
TMEM237 0 0 0 1 0 1
TNFRSF13C 0 0 0 1 0 1
TRIOBP 0 0 0 0 1 1
TTC7A 0 0 0 1 0 1
TYROBP 0 0 0 0 1 1
UCHL1 0 0 0 0 1 1
UNC93B1 0 0 0 1 0 1
UNG 0 0 0 1 0 1
UPB1 0 1 0 0 0 1
ZFYVE27 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 287
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Breast-ovarian cancer, familial 2 67 0 8 50 75 200
Breast-ovarian cancer, familial 1 45 0 3 9 35 92
Familial hypertrophic cardiomyopathy 4 21 0 9 8 24 62
Bardet-Biedl syndrome 1 1 1 1 9 27 39
Dilated cardiomyopathy 1KK 0 0 4 11 18 33
Arrhythmogenic right ventricular cardiomyopathy, type 9 3 0 6 10 11 30
Aortic aneurysm, familial thoracic 4 0 0 0 22 3 25
Hereditary nonpolyposis colorectal cancer type 5 5 0 3 1 13 22
Microcephalic osteodysplastic primordial dwarfism type 2 0 0 0 5 17 22
Arrhythmogenic right ventricular cardiomyopathy, type 11 1 0 4 8 8 21
Lynch syndrome I 3 0 1 4 11 19
Dilated cardiomyopathy 1JJ 0 0 1 6 11 18
Hereditary nonpolyposis colorectal cancer type 4 1 0 0 2 15 18
Congenital contractural arachnodactyly 0 0 0 12 5 17
Niemann-Pick disease type C1 0 0 1 4 12 17
Xeroderma pigmentosum, group G 0 1 2 7 7 17
Familial hypertrophic cardiomyopathy 17 0 0 1 7 8 16
Ataxia-telangiectasia syndrome 0 0 5 9 1 15
Retinitis pigmentosa 25 2 0 1 6 6 15
Cohen syndrome 0 0 0 4 10 14
Familial hypertrophic cardiomyopathy 19 1 0 1 2 10 14
Joubert syndrome 17 0 0 0 7 6 13
Neuroblastoma 3 0 0 0 2 11 13
Left ventricular noncompaction 7 0 1 1 4 5 11
Primary autosomal recessive microcephaly 5 0 0 0 0 11 11
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 0 0 0 4 7 11
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 0 0 0 11 11
Congenital hyperammonemia, type I 0 0 0 1 9 10
Knobloch syndrome 1 0 0 0 2 8 10
Chédiak-Higashi syndrome 0 0 1 7 1 9
Early infantile epileptic encephalopathy 10 1 0 0 4 4 9
Familial hypertrophic cardiomyopathy 10 1 0 0 0 8 9
Familial hypertrophic cardiomyopathy 16 0 0 1 1 7 9
Hereditary diffuse leukoencephalopathy with spheroids 0 0 0 3 6 9
Idiopathic basal ganglia calcification 1 0 0 0 4 5 9
Mucopolysaccharidosis, MPS-III-A 6 0 0 0 3 9
Primary autosomal recessive microcephaly 1 0 0 0 0 9 9
Amyotrophic lateral sclerosis type 1 0 0 0 1 7 8
Congenital stationary night blindness, type 1E 0 0 0 6 2 8
Short rib-polydactyly syndrome, Majewski type 0 0 0 0 8 8
Spinocerebellar ataxia 14 0 0 2 0 6 8
46,XY sex reversal, type 6 0 0 0 0 7 7
Autosomal recessive cutis laxa type 1B 0 0 0 4 3 7
Coenzyme Q10 deficiency, primary, 4 0 0 0 2 5 7
Infantile Parkinsonism-dystonia 0 0 0 1 6 7
Neuropathy, hereditary sensory and autonomic, type VI 0 0 3 2 2 7
Parkinson disease 11 0 0 0 1 6 7
Primary autosomal recessive microcephaly 2 0 0 0 3 4 7
Segawa syndrome, autosomal recessive 0 0 0 3 4 7
Spastic ataxia Charlevoix-Saguenay type 0 0 1 1 5 7
Arterial tortuosity syndrome 0 0 0 4 2 6
Ceroid lipofuscinosis neuronal 10 0 0 0 1 5 6
Heterotaxy, visceral, 4, autosomal 0 0 0 1 5 6
Paget disease of bone 2, early-onset 0 0 0 2 4 6
Phenylketonuria 4 2 0 0 0 6
Phytanic acid storage disease 0 0 2 4 0 6
Posterior column ataxia with retinitis pigmentosa 0 0 0 0 6 6
Retinitis pigmentosa 26 0 0 1 3 2 6
Spastic paraplegia 11, autosomal recessive 0 0 1 5 0 6
Abetalipoproteinaemia 0 0 1 4 0 5
Ceroid lipofuscinosis neuronal 2 2 1 0 0 2 5
Cholestanol storage disease 0 1 0 4 0 5
Ciliary dyskinesia, primary, 10 0 0 0 0 5 5
Ciliary dyskinesia, primary, 2 0 0 0 0 5 5
Meckel syndrome type 8 0 0 0 1 4 5
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 0 4 5
Microcephaly, postnatal progressive, with seizures and brain atrophy 0 0 0 0 5 5
Mucopolysaccharidosis, MPS-III-B 2 0 0 2 1 5
Parkinson disease 15 0 0 1 1 3 5
Primary autosomal recessive microcephaly 3 0 0 0 0 5 5
Retinitis pigmentosa 54 1 0 0 2 2 5
Spinocerebellar ataxia 35 0 0 0 0 5 5
Spinocerebellar ataxia, autosomal recessive 10 0 0 0 1 4 5
Thyroid dyshormonogenesis 6 1 0 0 0 4 5
Total anomalous pulmonary venous return 0 0 1 1 3 5
Aicardi Goutieres syndrome 3 0 0 0 4 0 4
Cerebral cavernous malformation 2 0 0 0 2 4
Cerebral cavernous malformations 2 0 0 0 0 4 4
Ceroid lipofuscinosis, neuronal, 13 0 0 0 0 4 4
Cone-rod dystrophy 15 0 0 1 3 0 4
Disseminated atypical mycobacterial infection 0 0 0 3 1 4
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 1 3 4
Familial hypertrophic cardiomyopathy 8 0 0 1 1 2 4
Infantile nephronophthisis 0 0 0 2 2 4
Majeed syndrome 0 0 1 2 1 4
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 0 0 0 2 2 4
Retinal cone dystrophy 4 0 0 1 3 0 4
Retinitis pigmentosa 45 0 0 0 4 0 4
Spastic paraplegia 7 2 0 0 0 2 4
Spinocerebellar ataxia 13 0 0 0 3 1 4
Townes-Brocks syndrome 1 0 0 0 0 4 4
Wagner syndrome 0 0 0 4 0 4
Aspartylglucosaminuria 1 0 0 0 2 3
Atrial septal defect 4 0 0 1 0 2 3
Autism 17 0 0 0 2 1 3
Bamforth syndrome 0 0 0 1 2 3
Biotin-thiamine-responsive basal ganglia disease 0 0 0 2 1 3
Cone dystrophy 4 0 0 0 2 1 3
Congenital stationary night blindness, type 1B 0 0 0 2 1 3
Dermatofibrosarcoma protuberans 0 0 1 0 2 3
Dilated cardiomyopathy 1T 0 0 0 1 2 3
Inflammatory bowel disease 28, autosomal recessive 0 0 0 3 0 3
Long QT syndrome 11 0 0 0 2 1 3
Mental retardation, autosomal dominant 6 0 1 0 2 0 3
Microcephaly with chorioretinopathy, autosomal recessive 0 0 0 2 1 3
Mucopolysaccharidosis, MPS-IV-A 0 1 0 0 2 3
Nephronophthisis 14 0 0 0 3 0 3
Persistent Mullerian duct syndrome 0 0 0 0 3 3
Pyruvate dehydrogenase E2 deficiency 0 0 0 2 1 3
Retinitis pigmentosa 30 0 0 1 2 0 3
Smith-Lemli-Opitz syndrome 2 0 0 1 0 3
Spastic paraplegia 35 0 0 0 0 3 3
Spastic paraplegia 51, autosomal recessive 0 0 0 0 3 3
Spinocerebellar ataxia 1 0 0 0 1 2 3
Spinocerebellar ataxia 5 0 0 0 2 1 3
Aicardi Goutieres syndrome 4 0 0 0 1 1 2
Ataxia with vitamin E deficiency 1 0 0 0 1 2
Ataxia, spastic, 4, autosomal recessive 0 0 0 0 2 2
Autoimmune lymphoproliferative syndrome 0 0 0 2 0 2
Autosomal recessive polycystic kidney disease 1 0 0 1 0 2
C1q deficiency 0 0 0 2 0 2
Cardiac arrhythmia, ankyrin B-related 0 0 0 2 0 2
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 0 0 0 0 2 2
Charcot-Marie-Tooth disease, recessive intermediate B 0 0 1 0 1 2
Ciliary dyskinesia, primary, 13 0 0 0 0 2 2
Common variable immunodeficiency 8, with autoimmunity 0 0 0 1 1 2
Cone-rod dystrophy 16 0 0 1 1 0 2
Congenital disorder of glycosylation type 1K 1 0 0 0 1 2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 0 0 0 1 1 2
Dilated cardiomyopathy 1AA 0 0 0 0 2 2
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 2 0 2
Familial cold autoinflammatory syndrome 2 0 0 0 1 1 2
Fanconi anemia, complementation group A 0 0 0 1 1 2
Generalized epilepsy and paroxysmal dyskinesia 0 0 0 2 0 2
Glutaric aciduria, type 1 0 0 0 1 1 2
Goldberg-Shprintzen megacolon syndrome 0 0 0 0 2 2
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts 0 0 0 0 2 2
Hereditary coproporphyria 0 0 0 0 2 2
Hermansky-Pudlak syndrome 4 0 0 0 2 0 2
Huntington disease-like 2 0 0 0 0 2 2
Joubert syndrome 8 0 0 0 1 1 2
Leukocyte adhesion deficiency, type III 0 0 0 2 0 2
Leukoencephalopathy, cystic, without megalencephaly 0 0 0 0 2 2
Lynch syndrome II 0 0 0 0 2 2
Maple syrup urine disease 0 0 0 1 1 2
Mental retardation, autosomal dominant 5 1 0 0 1 0 2
Mucolipidosis III Gamma 1 0 0 1 0 2
Mucopolysaccharidosis, MPS-III-C 0 0 1 0 1 2
Mucopolysaccharidosis, MPS-III-D 0 0 0 0 2 2
Nephronophthisis 15 0 0 1 1 0 2
Netherton syndrome 0 0 0 2 0 2
Neurodegeneration with brain iron accumulation 4 0 0 0 1 1 2
Progressive familial heart block type 1B 0 0 2 0 0 2
Retinitis pigmentosa 28 0 0 0 1 1 2
Severe combined immunodeficiency due to ADA deficiency 0 0 0 2 0 2
Slowed nerve conduction velocity, autosomal dominant 0 0 0 1 1 2
Spastic paraplegia 10 0 0 0 2 0 2
Spastic paraplegia 15 0 0 0 1 1 2
Spastic paraplegia 39 0 0 0 1 1 2
Spinocerebellar ataxia 23 0 0 0 1 1 2
Spinocerebellar ataxia 27 0 0 0 1 1 2
Spinocerebellar ataxia, autosomal recessive 11 0 0 0 0 2 2
Achromatopsia 4 0 0 0 1 0 1
Acne inversa, familial, 2 0 0 0 0 1 1
Adams-Oliver syndrome 2 0 0 0 1 0 1
Albinism, oculocutaneous, type VII 0 0 0 1 0 1
Amyotrophic lateral sclerosis type 10 0 0 0 1 0 1
Ataxia, sensory, autosomal dominant 0 0 0 1 0 1
Ataxia-telangiectasia-like disorder 1 0 0 0 1 0 1
Atypical hemolytic-uremic syndrome 2 0 0 0 0 1 1
Autoimmune disease, syndromic multisystem 0 0 0 1 0 1
Band-like calcification with simplified gyration and polymicrogyria 0 0 0 0 1 1
Bare lymphocyte syndrome 2 0 0 0 0 1 1
Benign familial neonatal seizures 2 0 0 0 0 1 1
Carbohydrate-deficient glycoprotein syndrome type I 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 4 0 0 0 1 0 1
Cataract, microphthalmia and nystagmus 0 0 0 1 0 1
Cerebellar ataxia, Cayman type 0 0 1 0 0 1
Cerebral folate deficiency 0 0 0 0 1 1
Chylomicron retention disease 0 0 1 0 0 1
Ciliary dyskinesia, primary, 19 0 0 0 0 1 1
Coenzyme Q10 deficiency, primary, 2 0 0 0 1 0 1
Coffin-Siris syndrome 1 1 0 0 0 0 1
Common variable immunodeficiency 4 0 0 0 1 0 1
Complement component 9 deficiency 0 0 0 1 0 1
Cone-rod dystrophy 7 0 0 0 0 1 1
Cone-rod dystrophy 9 0 0 0 1 0 1
Congenital defect of folate absorption 0 0 0 1 0 1
Congenital disorder of glycosylation type 1C 1 0 0 0 0 1
Congenital stationary night blindness, type 1F 0 0 1 0 0 1
Congenital stationary night blindness, type 2B 0 0 0 1 0 1
Cornelia de Lange syndrome 1 0 0 0 0 1 1
Cornelia de Lange syndrome 4 0 0 0 1 0 1
Cutis laxa-corneal clouding-oligophrenia syndrome 0 0 0 1 0 1
Deafness, autosomal dominant 1 0 0 0 0 1 1
Deafness, autosomal dominant 9 0 0 0 0 1 1
Deafness, autosomal recessive 28 0 0 0 0 1 1
Deafness, autosomal recessive 39 0 0 0 1 0 1
Deafness, autosomal recessive 77 0 0 0 1 0 1
Deafness, autosomal recessive 84b 1 0 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 0 0 1 0 1
Deficiency of beta-ureidopropionase 0 1 0 0 0 1
Dentatorubral pallidoluysian atrophy 0 0 0 0 1 1
Dihydropyrimidine dehydrogenase deficiency 0 0 1 0 0 1
Dystonia 16 0 0 0 0 1 1
Dystonia 24 0 0 0 1 0 1
Early infantile epileptic encephalopathy 12 0 0 0 1 0 1
Efavirenz response 0 0 0 0 1 1
Ehlers-Danlos syndrome progeroid type 0 0 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 0 0 1 0 1
Episodic ataxia type 1 0 0 0 0 1 1
Fibrous dysplasia of jaw 0 0 0 1 0 1
Fleck retina, familial benign 0 0 0 1 0 1
Glaucoma 1, open angle, p 0 0 0 1 0 1
Glutaric aciduria, type 2 0 0 0 1 0 1
Hepatic venoocclusive disease with immunodeficiency 0 0 0 1 0 1
Hermansky-Pudlak syndrome 5 0 0 0 1 0 1
Hermansky-Pudlak syndrome 9 0 0 0 1 0 1
Herpes simplex encephalitis 1 0 0 0 1 0 1
Heterotopia, periventricular, autosomal recessive 0 0 0 0 1 1
Histiocytosis-lymphadenopathy plus syndrome 0 0 0 1 0 1
Holocarboxylase synthetase deficiency 0 0 0 1 0 1
Holt-Oram syndrome 0 0 0 0 1 1
Hydatidiform mole 0 0 0 1 0 1
Hyperekplexia 2 0 0 0 1 0 1
Hyperimmunoglobulin E syndrome 0 0 0 1 0 1
Immunodeficiency 18 0 0 0 1 0 1
Immunodeficiency with hyper IgM type 5 0 0 0 1 0 1
Joubert syndrome 14 0 0 0 1 0 1
Joubert syndrome 16 0 0 0 0 1 1
KBG syndrome 0 0 0 1 0 1
Kabuki syndrome 1 0 0 1 0 0 1
Leber congenital amaurosis 9 0 0 0 1 0 1
Legius syndrome 0 0 0 0 1 1
Lipase deficiency combined 0 0 0 0 1 1
Loeys-Dietz syndrome 4 0 0 0 0 1 1
Lymphoproliferative syndrome 1 0 0 0 1 0 1
Malignant tumor of esophagus 0 0 0 1 0 1
Marinesco-Sjögren syndrome 0 0 0 0 1 1
Meckel syndrome, type 10 0 0 0 0 1 1
Megaloblastic anemia due to inborn errors of metabolism 0 0 1 0 0 1
Mental retardation, autosomal recessive 3 0 0 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 0 0 0 0 1 1
Molybdenum cofactor deficiency, complementation group A 0 0 0 1 0 1
Mucopolysaccharidosis type VII 0 0 1 0 0 1
Multiple endocrine neoplasia, type 4 0 0 0 1 0 1
Multiple gastrointestinal atresias 0 0 0 1 0 1
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 0 0 0 0 1 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 1 0 0 0 1
Natural killer cell and glucocorticoid deficiency with DNA repair defect 0 0 0 0 1 1
Nijmegen breakage syndrome-like disorder 0 0 0 1 0 1
Oguchi disease 2 0 0 0 1 0 1
Optic atrophy 7 0 0 0 1 0 1
Osteopetrosis autosomal recessive 1 0 0 0 1 0 1
Pachyonychia congenita 2 0 0 0 0 1 1
Parkinson disease 5 0 0 0 0 1 1
Paroxysmal nonkinesigenic dyskinesia 1 0 0 0 0 1 1
Perrault syndrome 4 0 0 0 1 0 1
Plasminogen deficiency, type I 0 0 1 0 0 1
Polycystic liver disease 1 0 0 0 0 1 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 0 1 1
Pyridoxine-dependent epilepsy 0 0 0 0 1 1
Renal cell carcinoma, nonpapillary 0 0 0 1 0 1
Retinitis pigmentosa 11 0 0 0 1 0 1
Retinitis pigmentosa 62 0 0 0 1 0 1
Rett syndrome, congenital variant 0 0 0 1 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 0 0 1 1
Sandhoff disease 0 0 1 0 0 1
Schimke immunoosseous dysplasia 0 0 0 0 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 0 0 0 1 0 1
Shwachman syndrome 1 0 0 0 0 1
Sinoatrial node dysfunction and deafness 0 0 0 1 0 1
Sitosterolemia 0 0 0 0 1 1
Sjögren-Larsson syndrome 0 0 0 1 0 1
Spastic paraplegia 33, autosomal dominant 0 0 0 1 0 1
Spastic paraplegia 47, autosomal recessive 0 0 0 1 0 1
Spinocerebellar ataxia 12 0 0 0 0 1 1
Spinocerebellar ataxia 17 0 0 0 0 1 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 0 0 1 0 1
Succinate-semialdehyde dehydrogenase deficiency 0 0 0 1 0 1
Sveinsson chorioretinal atrophy 0 0 0 1 0 1
Transcobalamin II deficiency 0 0 0 1 0 1
Unverricht-Lundborg syndrome 0 0 0 1 0 1
Usher syndrome, type 3B 0 0 0 0 1 1
Vici syndrome 0 0 0 0 1 1
Vitreoretinopathy, neovascular inflammatory 0 0 0 1 0 1
Xeroderma pigmentosum, variant type 0 0 1 0 0 1

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