ClinVar Miner

Variants from Genome Diagnostics Laboratory,University Medical Center Utrecht

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
115 12 32 334 516 1009

Gene and significance breakdown #

Total genes and gene combinations: 255
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 24 2 3 55 60 144
BRCA1 17 0 1 10 25 53
MYBPC3 14 1 4 9 18 46
PKP2 6 0 1 7 10 24
SYNE2 0 0 0 4 17 21
ANK2 0 0 2 10 6 18
FBN2 0 0 0 4 13 17
MYPN 0 0 2 6 8 16
DSC2 2 0 1 7 5 15
VPS13B 0 0 0 1 14 15
ATM 0 0 1 11 2 14
PAH 11 0 0 0 2 13
SPG11 0 0 0 4 9 13
AKAP9 0 0 0 9 2 11
CASQ2 0 0 1 2 8 11
MYH11 0 0 0 7 4 11
PMS2 0 0 0 8 3 11
MYH11, NDE1 0 0 1 5 4 10
BBS9 1 0 0 1 7 9
JPH2 0 0 1 2 6 9
LAMA4 0 0 2 1 6 9
NPC1 0 0 0 2 7 9
ANKRD1 0 0 0 3 5 8
CACNB2, NSUN6 0 0 0 2 6 8
CALR3 0 0 1 4 3 8
DTNA 0 0 1 2 5 8
LYST 0 0 1 6 1 8
PKHD1 1 0 0 2 4 7
PLCB1 0 0 0 2 5 7
PLCE1 0 0 0 0 7 7
PNKP 1 0 0 3 3 7
ANK1 0 0 0 0 6 6
BBS12 0 0 0 0 6 6
ELP1 0 0 0 2 4 6
MYOZ2 0 0 2 1 3 6
PMM2 4 0 0 1 1 6
ALDH7A1 1 0 0 1 3 5
ARHGEF10 0 0 0 3 2 5
CACNA1H 0 0 0 0 5 5
CPS1 0 0 0 2 3 5
CTSD 0 0 0 1 4 5
GRIP1 0 0 0 0 5 5
KCNC3 1 0 0 1 3 5
MIB1 0 1 1 3 0 5
MSH6 3 0 1 0 1 5
AARS1 0 0 0 4 0 4
ATM, C11orf65 0 0 1 3 0 4
BBS10 2 0 0 1 1 4
BBS2 0 0 0 1 3 4
CCM2 0 0 0 0 4 4
IL10RA 0 0 0 2 2 4
IL12RB1 0 0 0 4 0 4
KRIT1 2 0 0 1 1 4
LHB 0 0 0 0 4 4
LPIN2 0 0 1 3 0 4
MTTP 0 0 0 1 3 4
NPHS1 0 0 0 0 4 4
PRKCG 0 0 0 0 4 4
SALL1 0 0 0 0 4 4
SLC2A10 0 0 0 2 2 4
ACVR2B 0 0 0 1 2 3
ACVRL1 0 0 0 0 3 3
CACNB2 0 0 0 3 0 3
CBS 0 0 0 2 1 3
CPLANE1 0 0 0 0 3 3
DHCR7 2 0 0 0 1 3
DPYD 1 0 0 0 2 3
FAS 0 0 0 2 1 3
FREM2 0 0 0 0 3 3
GRIN2A 0 0 0 3 0 3
GRIN2B 1 0 0 0 2 3
IGHMBP2 0 1 0 1 1 3
IRS1 0 0 0 2 1 3
ITK 0 0 0 1 2 3
LEPR 0 0 0 0 3 3
MMUT 0 0 0 1 2 3
MTMR2 0 0 0 0 3 3
MYLK2 0 0 0 3 0 3
MYO5B 0 0 0 0 3 3
NLRP12 0 0 0 0 3 3
NLRP7 0 0 0 1 2 3
SBDS 1 0 0 1 1 3
SLC19A3 0 0 0 2 1 3
SNTA1 0 0 0 3 0 3
SPATA5 1 2 0 0 0 3
TMPO 0 0 0 2 1 3
UPK3A 0 0 0 0 3 3
AICDA 0 0 0 0 2 2
ALG1 0 1 0 1 0 2
ALG6 1 0 0 1 0 2
AMH 0 0 0 0 2 2
AMT 0 0 0 1 1 2
ANKRD11 1 0 0 1 0 2
ASL 2 0 0 0 0 2
BBS1, ZDHHC24 0 0 0 0 2 2
BBS7 0 0 0 0 2 2
CAPN3 0 0 0 1 1 2
CASQ2, VANGL1 0 0 0 0 2 2
CHRNA4 0 0 0 0 2 2
DBT 0 0 0 0 2 2
EPG5 0 0 0 0 2 2
FAM83H 0 0 0 0 2 2
FGF14 0 0 0 1 1 2
FOLR1 1 0 0 1 0 2
FOXE1 0 0 0 1 1 2
GATAD1 0 0 0 0 2 2
GPHN 0 0 0 2 0 2
IFNGR2 0 0 0 2 0 2
KARS1 0 0 0 0 2 2
KCNMA1 0 0 0 2 0 2
KCNQ3 1 0 0 1 0 2
KIF5A 0 0 0 2 0 2
LDLR 1 0 0 0 1 2
LOC108663996, TBP 0 0 0 1 1 2
LOC114827850, MYL2 1 0 0 0 1 2
LRBA 0 0 0 0 2 2
MAP3K1 0 0 0 0 2 2
MRE11 0 0 0 2 0 2
MSH2 1 0 0 0 1 2
MYL2 0 0 0 0 2 2
MYL3 0 0 1 0 1 2
NCR1, NLRP7 0 0 0 0 2 2
NEK1 0 0 0 1 1 2
NHLRC1 1 0 0 0 1 2
PAX9 0 0 0 0 2 2
PCSK9 0 0 0 0 2 2
PDYN 0 0 0 1 1 2
POLR3GL 0 2 0 0 0 2
RNASEH2A 0 0 0 1 1 2
RNASEH2C 0 0 0 2 0 2
ROBO2 0 0 0 0 2 2
SACS 0 0 0 1 1 2
SERPING1 0 0 0 0 2 2
SH3BP2 0 0 0 1 1 2
SLC12A3 0 0 0 0 2 2
SLC6A5 0 0 0 0 2 2
SPAST 1 0 0 1 0 2
SPINK5 0 0 0 1 1 2
ST14 0 0 0 0 2 2
SYNGAP1 0 0 0 1 1 2
TARDBP 0 0 0 0 2 2
TBK1 0 0 0 0 2 2
TGFB2 0 0 0 0 2 2
TPP1 0 1 0 0 1 2
WDPCP 0 0 0 0 2 2
ABCG5, DYNC2LI1 0 0 0 1 0 1
ACTN2 0 0 0 0 1 1
ACTN4 0 0 0 0 1 1
ADA 0 0 0 1 0 1
ADA, LOC107303343 0 0 0 1 0 1
AGL 0 0 0 1 0 1
AMHR2 0 0 0 0 1 1
AQP2 0 0 0 0 1 1
ARL13B 0 0 0 0 1 1
ATXN1 0 0 0 1 0 1
ATXN1, LOC108663993 0 0 0 0 1 1
B3GAT3 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
CD2AP 0 0 0 0 1 1
CD40 0 0 0 0 1 1
CD46 0 0 0 0 1 1
CDKN1B 0 0 0 1 0 1
CHRNA2 0 0 0 1 0 1
CPT1A 0 0 0 0 1 1
CSTB 0 0 0 0 1 1
CYP24A1 0 0 0 0 1 1
DEPDC5 0 0 0 1 0 1
DLAT 0 0 0 1 0 1
DNMT3B 0 0 0 0 1 1
DSC2, DSCAS 0 0 0 0 1 1
EFEMP2 0 0 0 0 1 1
ETFB 0 0 0 0 1 1
FA2H 0 0 0 1 0 1
FERMT3 0 0 0 1 0 1
FOXG1 0 0 0 1 0 1
G6PC 1 0 0 0 0 1
GLRA1 0 0 0 0 1 1
GLRB 0 0 0 1 0 1
GUSB 0 0 1 0 0 1
HGF 0 0 0 0 1 1
HGSNAT 0 0 0 0 1 1
HPS4 0 0 0 1 0 1
HPS5 0 0 0 1 0 1
IFT140 0 0 0 0 1 1
IFT140, LOC105371046 0 0 0 0 1 1
IL17RA 0 0 0 0 1 1
ITCH 0 0 0 1 0 1
JAK3 0 0 0 1 0 1
JPH3, LOC109029536 0 0 0 1 0 1
KBTBD13 0 0 1 0 0 1
KCNE3 0 0 0 1 0 1
KCNJ8 0 0 0 0 1 1
KMT2D 0 0 0 1 0 1
LIPA 0 1 0 0 0 1
LOC101928008, SBF2 0 0 0 1 0 1
MCM4 0 0 0 1 0 1
MED25 0 0 0 0 1 1
MFSD8 0 0 0 0 1 1
MLYCD 0 0 0 0 1 1
MYO5B, SNHG22 0 0 0 0 1 1
NDUFS1 0 0 0 1 0 1
NEFH 0 0 0 0 1 1
NFKBIA 0 0 0 1 0 1
NGF 0 0 0 1 0 1
PACS1 1 0 0 0 0 1
PCCA 0 0 0 1 0 1
PCK1 0 0 0 0 1 1
PCNT 0 0 0 1 0 1
PDSS1 0 0 0 0 1 1
PHYH 0 0 0 1 0 1
PIK3R2 1 0 0 0 0 1
PNPLA6 0 0 0 1 0 1
POLR3B 1 0 0 0 0 1
PRF1 0 0 0 0 1 1
PRICKLE2 0 0 0 0 1 1
PSMB8 0 0 0 0 1 1
RAD21 0 0 0 1 0 1
RAD50 0 0 0 0 1 1
RUNX1 0 0 0 0 1 1
SATB2 1 0 0 0 0 1
SCARF2 0 0 0 1 0 1
SEC63 0 0 0 0 1 1
SGCG 1 0 0 0 0 1
SIX5 0 0 0 0 1 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 0 1 1
SPG7 1 0 0 0 0 1
STAT3 0 0 0 1 0 1
STXBP2 0 0 0 0 1 1
TCIRG1 0 0 0 1 0 1
TCN2 0 0 0 1 0 1
TCTN2 0 0 0 1 0 1
TK2 0 0 0 1 0 1
TLR3 0 0 0 1 0 1
TMEM138 0 0 0 0 1 1
TMEM231 0 0 0 0 1 1
TNFRSF13C 0 0 0 1 0 1
TNNT1 0 0 0 0 1 1
TRPM4 0 0 0 1 0 1
TTC7A 0 0 0 0 1 1
UNC93B1 0 0 0 1 0 1
UNG 0 0 0 1 0 1
UPB1 1 0 0 0 0 1
WWOX 0 0 0 1 0 1
XDH 0 0 0 0 1 1
ZFYVE26 0 0 0 0 1 1
ZFYVE27 0 0 0 1 0 1
ZNF423 0 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 232
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Breast-ovarian cancer, familial 2 24 2 3 55 60 144
Breast-ovarian cancer, familial 1 17 0 1 10 25 53
Familial hypertrophic cardiomyopathy 4 14 1 4 9 18 46
Bardet-Biedl syndrome 1 3 0 0 3 24 30
Arrhythmogenic right ventricular cardiomyopathy, type 9 6 0 1 7 10 24
Aortic aneurysm, familial thoracic 4 0 0 1 12 8 21
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 4 17 21
Ataxia-telangiectasia syndrome 0 0 2 14 2 18
Cardiac arrhythmia, ankyrin B-related 0 0 2 10 6 18
Congenital contractural arachnodactyly 0 0 0 4 13 17
Arrhythmogenic right ventricular cardiomyopathy, type 11 2 0 1 7 6 16
Dilated cardiomyopathy 1KK 0 0 2 6 8 16
Cohen syndrome 0 0 0 1 14 15
Phenylketonuria 11 0 0 0 2 13
Spastic paraplegia 11, autosomal recessive 0 0 0 4 9 13
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 0 1 2 10 13
Brugada syndrome 4 0 0 0 5 6 11
Hereditary nonpolyposis colorectal cancer type 4 0 0 0 8 3 11
Long QT syndrome 11 0 0 0 9 2 11
Dilated cardiomyopathy 1JJ 0 0 2 1 6 9
Familial hypertrophic cardiomyopathy 17 0 0 1 2 6 9
Niemann-Pick disease type C1 0 0 0 2 7 9
Chédiak-Higashi syndrome 0 0 1 6 1 8
Cryptophthalmos syndrome 0 0 0 0 8 8
Familial hypertrophic cardiomyopathy 19 0 0 1 4 3 8
Left ventricular noncompaction 1 0 0 1 2 5 8
Total anomalous pulmonary venous return 0 0 0 3 5 8
Autosomal recessive polycystic kidney disease 1 0 0 2 4 7
Early infantile epileptic encephalopathy 10 1 0 0 3 3 7
Early infantile epileptic encephalopathy 12 0 0 0 2 5 7
Nephrotic syndrome, type 3 0 0 0 0 7 7
Carbohydrate-deficient glycoprotein syndrome type I 4 0 0 1 1 6
Disseminated atypical mycobacterial infection 0 0 0 6 0 6
Familial dysautonomia 0 0 0 2 4 6
Familial hypertrophic cardiomyopathy 16 0 0 2 1 3 6
Spherocytosis type 1 0 0 0 0 6 6
Ceroid lipofuscinosis neuronal 10 0 0 0 1 4 5
Congenital hyperammonemia, type I 0 0 0 2 3 5
Epilepsy, childhood absence 6 0 0 0 0 5 5
Hereditary nonpolyposis colorectal cancer type 5 3 0 1 0 1 5
Hydatidiform mole 0 0 0 1 4 5
Left ventricular noncompaction 7 0 1 1 3 0 5
Pyridoxine-dependent epilepsy 1 0 0 1 3 5
Slowed nerve conduction velocity, autosomal dominant 0 0 0 3 2 5
Spinocerebellar ataxia 13 1 0 0 1 3 5
Abetalipoproteinaemia 0 0 0 1 3 4
Arterial tortuosity syndrome 0 0 0 2 2 4
Cerebral cavernous malformation 2 0 0 1 1 4
Cerebral cavernous malformations 2 0 0 0 0 4 4
Charcot-Marie-Tooth disease, type 2N 0 0 0 4 0 4
Congenital microvillous atrophy 0 0 0 0 4 4
Familial hypertrophic cardiomyopathy 10 1 0 0 0 3 4
Finnish congenital nephrotic syndrome 0 0 0 0 4 4
Inflammatory bowel disease 28, autosomal recessive 0 0 0 2 2 4
Isolated lutropin deficiency 0 0 0 0 4 4
Majeed syndrome 0 0 1 3 0 4
Spinocerebellar ataxia 14 0 0 0 0 4 4
Townes-Brocks syndrome 1 0 0 0 0 4 4
Autoimmune lymphoproliferative syndrome 0 0 0 2 1 3
Biotin-thiamine-responsive basal ganglia disease 0 0 0 2 1 3
Charcot-Marie-Tooth disease, type 4B1 0 0 0 0 3 3
Diabetes mellitus type 2 0 0 0 2 1 3
Dihydropyrimidine dehydrogenase deficiency 1 0 0 0 2 3
Dilated cardiomyopathy 1T 0 0 0 2 1 3
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 3 0 3
Familial cold autoinflammatory syndrome 2 0 0 0 0 3 3
Familial hypertrophic cardiomyopathy 1 0 0 0 3 0 3
Hereditary hemorrhagic telangiectasia type 2 0 0 0 0 3 3
Heterotaxy, visceral, 4, autosomal 0 0 0 1 2 3
Homocystinuria due to CBS deficiency 0 0 0 2 1 3
Joubert syndrome 17 0 0 0 0 3 3
Leptin receptor deficiency 0 0 0 0 3 3
Long QT syndrome 12 0 0 0 3 0 3
Lymphoproliferative syndrome 1 0 0 0 1 2 3
Maple syrup urine disease 0 0 0 1 2 3
Mental retardation, autosomal dominant 6 1 0 0 0 2 3
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 0 0 1 2 3
Persistent Mullerian duct syndrome 0 0 0 0 3 3
Renal adysplasia 0 0 0 0 3 3
Shwachman syndrome 1 0 0 1 1 3
Smith-Lemli-Opitz syndrome 2 0 0 0 1 3
Spinal muscular atrophy, distal, autosomal recessive, 1 0 1 0 1 1 3
not provided 1 2 0 0 0 3
46,XY sex reversal, type 6 0 0 0 0 2 2
Aicardi Goutieres syndrome 3 0 0 0 2 0 2
Aicardi Goutieres syndrome 4 0 0 0 1 1 2
Amelogenesis imperfecta, hypocalcification type 0 0 0 0 2 2
Amyotrophic lateral sclerosis type 10 0 0 0 0 2 2
Argininosuccinate lyase deficiency 2 0 0 0 0 2
Ataxia-telangiectasia-like disorder 1 0 0 0 2 0 2
Bamforth syndrome 0 0 0 1 1 2
Benign familial neonatal seizures 2 1 0 0 1 0 2
C1q deficiency 0 0 0 2 0 2
Cardiomyopathy, dilated, 2b 0 0 0 0 2 2
Cerebral folate deficiency 1 0 0 1 0 2
Ceroid lipofuscinosis neuronal 2 0 1 0 0 1 2
Charcot-Marie-Tooth disease, recessive intermediate B 0 0 0 0 2 2
Common variable immunodeficiency 8, with autoimmunity 0 0 0 0 2 2
Congenital disorder of glycosylation type 1C 1 0 0 1 0 2
Congenital disorder of glycosylation type 1K 0 1 0 1 0 2
Epilepsy, nocturnal frontal lobe, type 1 0 0 0 0 2 2
Familial hypercholesterolemia 1 0 0 0 1 2
Familial hypertrophic cardiomyopathy 8 0 0 1 0 1 2
Familial hypokalemia-hypomagnesemia 0 0 0 0 2 2
Fibrous dysplasia of jaw 0 0 0 1 1 2
Generalized epilepsy and paroxysmal dyskinesia 0 0 0 2 0 2
Glaucoma 1, open angle, p 0 0 0 0 2 2
Hereditary angioedema type 1 0 0 0 0 2 2
Hypercholesterolemia, autosomal dominant, 3 0 0 0 0 2 2
Hyperekplexia 3 0 0 0 0 2 2
Ichthyosis, congenital, autosomal recessive 11 0 0 0 0 2 2
Immunodeficiency with hyper IgM type 2 0 0 0 0 2 2
KBG syndrome 1 0 0 1 0 2
Lafora disease 1 0 0 0 1 2
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 1 2
Loeys-Dietz syndrome 4 0 0 0 0 2 2
Lynch syndrome I 1 0 0 0 1 2
Mental retardation, autosomal dominant 5 0 0 0 1 1 2
Molybdenum cofactor deficiency, complementation group A 0 0 0 2 0 2
Netherton syndrome 0 0 0 1 1 2
Non-ketotic hyperglycinemia 0 0 0 1 1 2
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 0 0 0 0 2 2
Severe combined immunodeficiency due to ADA deficiency 0 0 0 2 0 2
Short rib-polydactyly syndrome, Majewski type 0 0 0 1 1 2
Short stature; Abnormal facial shape; Oligodontia; Hyperostosis 0 2 0 0 0 2
Spastic ataxia Charlevoix-Saguenay type 0 0 0 1 1 2
Spastic paraplegia 10 0 0 0 2 0 2
Spastic paraplegia 4, autosomal dominant 1 0 0 1 0 2
Spinocerebellar ataxia 1 0 0 0 1 1 2
Spinocerebellar ataxia 17 0 0 0 1 1 2
Spinocerebellar ataxia 23 0 0 0 1 1 2
Spinocerebellar ataxia 27 0 0 0 1 1 2
Tooth agenesis, selective, 3 0 0 0 0 2 2
Vesicoureteral reflux 2 0 0 0 0 2 2
Vici syndrome 0 0 0 0 2 2
Amyotrophic lateral sclerosis type 1 0 0 0 0 1 1
Atypical hemolytic-uremic syndrome 2 0 0 0 0 1 1
Autoimmune disease, syndromic multisystem 0 0 0 1 0 1
Autosomal recessive cutis laxa type 1B 0 0 0 0 1 1
Branchiootorenal syndrome 2 0 0 0 0 1 1
Brugada syndrome 6 0 0 0 1 0 1
Carnitine palmitoyltransferase I deficiency 0 0 0 0 1 1
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 0 0 0 0 1 1
Ceroid lipofuscinosis neuronal 7 0 0 0 0 1 1
Charcot-Marie-Tooth disease type 2B2 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 4B2 0 0 0 1 0 1
Cleft palate, isolated 1 0 0 0 0 1
Coenzyme Q10 deficiency, primary, 2 0 0 0 0 1 1
Common variable immunodeficiency 4 0 0 0 1 0 1
Complement component 9 deficiency 0 0 0 1 0 1
Congenital defect of folate absorption 0 0 0 1 0 1
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 0 0 1 0 1
Cornelia de Lange syndrome 4 0 0 0 1 0 1
Deafness, autosomal recessive 39 0 0 0 0 1 1
Deficiency of beta-ureidopropionase 1 0 0 0 0 1
Deficiency of malonyl-CoA decarboxylase 0 0 0 0 1 1
Deficiency of xanthine oxidase 0 0 0 0 1 1
Dilated cardiomyopathy 1AA 0 0 0 0 1 1
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant 0 0 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 0 0 1 0 1
Epilepsy, nocturnal frontal lobe, type 4 0 0 0 1 0 1
Epilepsy, progressive myoclonic 5 0 0 0 0 1 1
Familial platelet disorder with associated myeloid malignancy 0 0 0 0 1 1
Focal segmental glomerulosclerosis 1 0 0 0 0 1 1
Focal segmental glomerulosclerosis 3, susceptibility to 0 0 0 0 1 1
Glutaric aciduria, type 2 0 0 0 0 1 1
Glycogen storage disease type 1A 1 0 0 0 0 1
Glycogen storage disease type III 0 0 0 1 0 1
Hemophagocytic lymphohistiocytosis, familial, 2 0 0 0 0 1 1
Hemophagocytic lymphohistiocytosis, familial, 5 0 0 0 0 1 1
Hepatic venoocclusive disease with immunodeficiency 0 0 0 0 1 1
Hermansky-Pudlak syndrome 4 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
Herpes simplex encephalitis 2 0 0 0 1 0 1
Histiocytosis-lymphadenopathy plus syndrome 0 0 0 1 0 1
Huntington disease-like 2 0 0 0 1 0 1
Hyperekplexia 2 0 0 0 1 0 1
Hyperekplexia hereditary 0 0 0 0 1 1
Hyperimmunoglobulin E syndrome 0 0 0 1 0 1
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 1 0 0 0 0 1
Idiopathic hypercalcemia of infancy 0 0 0 0 1 1
Immunodeficiency 51 0 0 0 0 1 1
Immunodeficiency with hyper IgM type 3 0 0 0 0 1 1
Immunodeficiency with hyper IgM type 5 0 0 0 1 0 1
Joubert syndrome 16 0 0 0 0 1 1
Joubert syndrome 20 0 0 0 0 1 1
Joubert syndrome 8 0 0 0 0 1 1
Kabuki syndrome 1 0 0 0 1 0 1
Leukocyte adhesion deficiency, type III 0 0 0 1 0 1
Lysosomal acid lipase deficiency 0 1 0 0 0 1
Malignant tumor of esophagus 0 0 0 1 0 1
Marden Walker like syndrome 0 0 0 1 0 1
Meckel syndrome type 8 0 0 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type 2 0 0 0 1 0 1
Mitochondrial DNA depletion syndrome 2 0 0 0 1 0 1
Mitochondrial complex I deficiency 0 0 0 1 0 1
Mucopolysaccharidosis type VII 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-C 0 0 0 0 1 1
Multiple endocrine neoplasia, type 4 0 0 0 1 0 1
Multiple gastrointestinal atresias 0 0 0 0 1 1
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 0 0 0 0 1 1
Nakajo syndrome 0 0 0 0 1 1
Natural killer cell and glucocorticoid deficiency with DNA repair defect 0 0 0 1 0 1
Nemaline myopathy 5 0 0 0 0 1 1
Nemaline myopathy 6 0 0 1 0 0 1
Nephrogenic diabetes insipidus, autosomal 0 0 0 0 1 1
Nephronophthisis 14 0 0 0 0 1 1
Nijmegen breakage syndrome-like disorder 0 0 0 0 1 1
Osteopetrosis autosomal recessive 1 0 0 0 1 0 1
Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 0 0 0 1 1
Phytanic acid storage disease 0 0 0 1 0 1
Polycystic liver disease 1 0 0 0 0 1 1
Progressive familial heart block type 1B 0 0 0 1 0 1
Propionyl-CoA carboxylase deficiency 0 0 0 1 0 1
Pyruvate dehydrogenase E2 deficiency 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
Schimke immunoosseous dysplasia 0 0 0 0 1 1
Schuurs-hoeijmakers syndrome 1 0 0 0 0 1
Severe autosomal recessive muscular dystrophy of childhood - North African type 1 0 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 0 0 0 1 0 1
Sitosterolemia 0 0 0 1 0 1
Spastic paraplegia 15 0 0 0 0 1 1
Spastic paraplegia 33, autosomal dominant 0 0 0 1 0 1
Spastic paraplegia 35 0 0 0 1 0 1
Spastic paraplegia 39 0 0 0 1 0 1
Spastic paraplegia 7 1 0 0 0 0 1
Transcobalamin II deficiency 0 0 0 1 0 1
Unverricht-Lundborg syndrome 0 0 0 0 1 1

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