ClinVar Miner

Variants from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Location: Germany  Primary collection method: clinical testing
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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
139 90 409 0 0 638

Gene and significance breakdown #

Total genes and gene combinations: 379
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA2 3 3 6 12
SERPINC1 6 0 6 12
VWF 0 4 7 11
NBEAL2 0 0 10 10
CHEK2 2 3 4 9
LDLR 5 1 2 8
ANKRD26 2 0 5 7
MSH2 2 0 5 7
TNXB 0 1 6 7
CFTR 2 0 4 6
F11 1 1 4 6
MSH6 1 1 4 6
PKD1 1 0 5 6
BRCA1 2 1 2 5
COL5A1 0 1 4 5
CYP11B1, LOC106799833 1 0 4 5
F7 1 1 3 5
NF1 1 1 3 5
PMS2 2 0 3 5
RYR1 0 2 3 5
TTN 0 0 5 5
ATM, C11orf65 2 0 2 4
ATP7B 2 1 1 4
C1S 0 1 3 4
COL6A2 0 0 4 4
F8 1 1 2 4
FBN1 1 2 1 4
HBB, LOC106099062, LOC107133510 4 0 0 4
ITGA2B 0 0 4 4
ABCG8 0 0 3 3
ACTN1 0 0 3 3
BARD1 0 0 3 3
BRIP1 0 0 3 3
COL1A1 2 0 1 3
COL1A2 0 1 2 3
COL5A2 0 1 2 3
COL6A3 0 0 3 3
CYP21A2, LOC106780800 3 0 0 3
DEPDC5 0 0 3 3
F13A1 0 1 2 3
FLNA 0 0 3 3
G6PD 3 0 0 3
KMT2C 0 1 2 3
LOC126862264, MEFV 2 1 0 3
MYO7A 0 1 2 3
PALB2 0 0 3 3
POLD1 0 0 3 3
POLE 0 1 2 3
PROC 2 0 1 3
PROS1 1 1 1 3
PTPN11 3 0 0 3
SETBP1 0 1 2 3
SLC26A4 3 0 0 3
TBXAS1 0 0 3 3
AASS 0 0 2 2
ADGRG2 0 1 1 2
AGA 1 0 1 2
ALPL 1 1 0 2
ANO6 0 0 2 2
ARID1B 1 0 1 2
ATP1A3 1 0 1 2
ATRX 0 0 2 2
BRCA1, LOC126862571 1 0 1 2
CACNA1G 0 0 2 2
CATSPER1 0 1 1 2
CD36 1 1 0 2
CFAP65 0 0 2 2
COL11A2 0 0 2 2
COL17A1 0 2 0 2
COL4A2 0 0 2 2
COL6A1 0 0 2 2
DIAPH2 0 0 2 2
DNA2 0 1 1 2
EPS8L2 1 0 1 2
F13B 0 0 2 2
FGG 1 1 0 2
GCK 1 0 1 2
GRIN2A 0 0 2 2
HFE 1 0 1 2
HPS1 0 0 2 2
HPS3 0 0 2 2
HPS6 0 0 2 2
HSD3B2 0 0 2 2
KDM5B 0 0 2 2
KMT2D 1 0 1 2
LOC106780803, TNXB 0 0 2 2
MAP1B 0 1 1 2
MC4R 1 0 1 2
MECOM 0 0 2 2
MECP2 2 0 0 2
MEFV 1 0 1 2
MLH1 1 0 1 2
MPL 0 0 2 2
MYH9 0 1 1 2
MYLK 0 0 2 2
MYO15A 0 1 1 2
NIPBL 0 0 2 2
OCA2 2 0 0 2
PAH 2 0 0 2
PCID2, PROZ 0 0 2 2
PKD2 1 0 1 2
PKP2 1 1 0 2
RNF43 0 0 2 2
RUNX1 1 0 1 2
SPG7 2 0 0 2
STK11 0 0 2 2
STRC 1 0 1 2
SYNGAP1 0 0 2 2
TBXA2R 0 0 2 2
TCF4 1 0 1 2
USH2A 2 0 0 2
VARS1 0 0 2 2
ZBTB18 0 0 2 2
AARS1 0 0 1 1
ACBD6, LHX4 0 0 1 1
AFF2 0 0 1 1
ALDH18A1 0 0 1 1
ALG8 1 0 0 1
ANK2 0 0 1 1
ANK3 0 0 1 1
ANKRD11 0 0 1 1
ANKRD17 0 1 0 1
ANXA11 0 0 1 1
AP4M1 1 0 0 1
APC 0 0 1 1
APOA5, LOC108491825 0 1 0 1
APOB 0 0 1 1
APOC3 0 0 1 1
APP 1 0 0 1
ARL14EP-DT, FSHB 0 0 1 1
ASH1L 0 0 1 1
ASL 0 1 0 1
ASPM 0 0 1 1
ATM 0 0 1 1
AUTS2 0 0 1 1
AXIN2 0 0 1 1
BACH2 0 0 1 1
BCL2L2-PABPN1, PABPN1 0 0 1 1
BLM 1 0 0 1
BMP15 0 0 1 1
BNC1 0 0 1 1
C10orf55, LOC126860960, PLAU 0 0 1 1
C17orf107, CHRNE 0 0 1 1
C17orf107, CHRNE, MINK1 1 0 0 1
CACNA1E 0 0 1 1
CACNA1F 0 1 0 1
CACNA1H 0 0 1 1
CACNB4 0 0 1 1
CAMTA1 0 0 1 1
CAMTA1, LOC126805603 0 0 1 1
CASR 0 0 1 1
CBL 0 0 1 1
CCDC12, NBEAL2 0 0 1 1
CCDC78 0 0 1 1
CDH1 0 0 1 1
CDKN1B 0 0 1 1
CEL 0 0 1 1
CETP 0 0 1 1
CFAP251 1 0 0 1
CFAP65, LOC100129175 0 0 1 1
CFTR, LOC113633877 0 0 1 1
CHD2 1 0 0 1
CHD7, LOC126860403 0 0 1 1
CHRNA4 0 0 1 1
CIC 0 0 1 1
CLCN1 0 0 1 1
CLCN1, LOC123956257 0 0 1 1
COL11A1, LOC126805814 0 0 1 1
COL12A1 0 0 1 1
COL3A1 0 0 1 1
COL4A1 0 1 0 1
COL4A4 1 0 0 1
COL4A5 0 0 1 1
COL7A1 1 0 0 1
COQ8A 0 1 0 1
CP, HPS3 0 0 1 1
CPT2 1 0 0 1
CRB1 0 0 1 1
CREBBP 0 1 0 1
CRYAB 0 0 1 1
CSNK2A1 1 0 0 1
CUL3 1 0 0 1
CUX2 0 0 1 1
CYP17A1 0 0 1 1
CYP21A2 1 0 0 1
CYP21A2, LOC106780800, TNXB 0 0 1 1
DIAPH1 0 0 1 1
DMXL2 0 0 1 1
DNAH17 0 1 0 1
DNAH2 0 0 1 1
DNAH9, LOC101928350 0 0 1 1
DSG1 0 0 1 1
DSP 0 0 1 1
DTNBP1 0 0 1 1
DVL3 0 1 0 1
DYNC1H1 0 0 1 1
DYSF 0 0 1 1
EDA 0 1 0 1
EHMT1 0 0 1 1
EIF2S3, LOC130068055 0 0 1 1
ELANE 0 0 1 1
EP300 0 0 1 1
EPCAM 0 0 1 1
EPG5 0 0 1 1
EPS8L2, LOC130005076 0 0 1 1
ETV6 0 0 1 1
F2 0 0 1 1
F5 0 0 1 1
F9 0 0 1 1
FBXO11, MSH6 1 0 0 1
FGFR1 0 0 1 1
FH 0 0 1 1
FLI1 0 0 1 1
FLNA, LOC107988032 0 0 1 1
FOXL2 1 0 0 1
FOXP1 0 1 0 1
FRMPD4 0 0 1 1
FSIP2 0 0 1 1
GABBR2 1 0 0 1
GABRG2 0 1 0 1
GATA1 1 0 0 1
GATAD2B 0 1 0 1
GCKR 0 0 1 1
GFI1B 0 0 1 1
GFM1 0 1 0 1
GH-LCR, SCN4A 0 0 1 1
GJB2 1 0 0 1
GLA, RPL36A-HNRNPH2 1 0 0 1
GLI2 0 0 1 1
GNAO1 0 0 1 1
GNAS 0 0 1 1
GP9 0 0 1 1
GRIN2D 0 0 1 1
GUCA1B 0 0 1 1
GUCY2D 0 0 1 1
HBA1, LOC106804613 1 0 0 1
HBB, LOC107133510, LOC110006319 0 0 1 1
HCN1 0 1 0 1
HDAC8 1 0 0 1
HERC2 0 0 1 1
HK1 0 0 1 1
HNF1A 0 1 0 1
HNF4A 0 0 1 1
HPRT1 0 1 0 1
HPS5 0 0 1 1
HPS6, LOC130004578 0 0 1 1
HS3ST6 0 0 1 1
HTRA1 0 0 1 1
IFIH1 0 0 1 1
IGF1R 0 0 1 1
IL36RN 0 1 0 1
IQSEC2 0 0 1 1
KANSL1 0 0 1 1
KCNH2 0 0 1 1
KCNJ11 1 0 0 1
KCNMA1 0 0 1 1
KCNQ1 1 0 0 1
KCNQ3 0 0 1 1
KDM4B 0 0 1 1
KIF11 0 0 1 1
KIF1A 0 0 1 1
KIF2A 0 0 1 1
KIF5A 0 0 1 1
KIT 0 0 1 1
KLF11 0 0 1 1
KMT2D, LOC126861520 0 0 1 1
KMT2E 0 0 1 1
KMT5B 0 0 1 1
KRIT1 1 0 0 1
KRT14 0 1 0 1
KRT5 0 1 0 1
KYNU 0 0 1 1
LDLR, MIR6886 1 0 0 1
LHX4 0 0 1 1
LIX1L, LOC126805851, RBM8A 0 1 0 1
LOC100130357, PHACTR1, TBC1D7-LOC100130357 0 0 1 1
LOC102724058, SCN1A 0 1 0 1
LOC124418421, STIM1 0 0 1 1
LOC126805680, PUM1 0 0 1 1
LOC126859827, TAB2 0 1 0 1
LOC126861897, MHRT, MYH7 1 0 0 1
LPL 1 0 0 1
LZTR1 1 0 0 1
M1AP 1 0 0 1
MARS1 0 1 0 1
MED13L 0 0 1 1
MEF2C 0 1 0 1
METTL23 0 0 1 1
MIR6511B1, PKD1 0 1 0 1
MPIG6B 0 1 0 1
MSX1 0 0 1 1
MUTYH 1 0 0 1
MYH11 0 1 0 1
MYH7 0 0 1 1
MYT1L 0 1 0 1
NBEA 0 0 1 1
NEXMIF 0 0 1 1
NFIA 0 1 0 1
NLRP3 1 0 0 1
NOBOX 0 0 1 1
NOTCH1 0 0 1 1
NOTCH2 0 0 1 1
NPHS1 1 0 0 1
NR5A1 0 0 1 1
NSD2 1 0 0 1
NTHL1 1 0 0 1
OTOF 0 0 1 1
PANX1 0 0 1 1
PDE1C 0 0 1 1
PEX1 1 0 0 1
PGK1 0 0 1 1
PHKA2 0 0 1 1
PIEZO2 0 1 0 1
PIGO 0 0 1 1
PIK3R2 1 0 0 1
PKHD1 0 1 0 1
PKLR 0 1 0 1
PLOD1 0 0 1 1
PNKP 0 1 0 1
PQBP1 1 0 0 1
PROZ 0 0 1 1
PRSS1, TRB 0 0 1 1
PTCH1 0 0 1 1
PYCR1 0 1 0 1
RAB27A 0 1 0 1
RAI1 0 0 1 1
RERE 0 0 1 1
RLBP1 0 0 1 1
RNF125 0 0 1 1
ROR1 0 0 1 1
RPE65 1 0 0 1
SATB1 1 0 0 1
SCN1A 0 0 1 1
SCN2A 0 0 1 1
SCN3A 0 0 1 1
SETD1A 0 0 1 1
SETD5 0 0 1 1
SH3TC2 0 0 1 1
SHANK3 1 0 0 1
SLC16A2 0 1 0 1
SLC2A1 0 0 1 1
SOS1 0 0 1 1
SOS2 0 0 1 1
SOX4 0 1 0 1
SPAST 0 0 1 1
SPEF2 0 0 1 1
SPG11 0 1 0 1
SPINK1 1 0 0 1
SPRY4 0 0 1 1
SPTB 0 1 0 1
STEEP1 0 0 1 1
SUFU 0 0 1 1
SYNE1 0 0 1 1
TBK1 0 0 1 1
TBR1 0 0 1 1
TCF20 1 0 0 1
THOC2 0 0 1 1
TMC1 1 0 0 1
TNC 0 0 1 1
TNPO3 0 0 1 1
TOR1A 1 0 0 1
TP63 0 0 1 1
TPP1 1 0 0 1
TRIP12 1 0 0 1
TRNT1 0 1 0 1
TRPS1 0 1 0 1
TRRAP 0 0 1 1
TSC2 1 0 0 1
TSPEAR 0 0 1 1
TUBB1 0 1 0 1
TUBB2B 0 0 1 1
TWIST1 1 0 0 1
UBE2A 0 0 1 1
USP9X 0 0 1 1
USP9Y 0 0 1 1
VIPAS39 0 1 0 1
WDR11 0 0 1 1
ZMYND10 1 0 0 1
ZNF462 0 0 1 1

Condition and significance breakdown #

Total conditions: 376
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Condition pathogenic likely pathogenic uncertain significance total
Familial cancer of breast 2 0 12 14
Hereditary antithrombin deficiency 6 0 6 12
Breast-ovarian cancer, familial, susceptibility to, 2 3 3 5 11
Gray platelet syndrome 0 0 11 11
von Willebrand disease type 1 0 4 7 11
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 1 8 9
Hypercholesterolemia, familial, 1 6 1 2 9
Bethlem myopathy 1A 0 0 8 8
Li-Fraumeni syndrome 2 2 3 3 8
Breast-ovarian cancer, familial, susceptibility to, 1 3 1 3 7
Lynch syndrome 1 2 0 5 7
Polycystic kidney disease, adult type 1 1 5 7
Thrombocytopenia 2 2 0 5 7
Hereditary factor XI deficiency disease 1 1 4 6
Lynch syndrome 5 1 1 4 6
Beta-thalassemia HBB/LCRB 4 0 1 5
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 4 0 1 5
Congenital factor VII deficiency 1 1 3 5
Deficiency of steroid 11-beta-monooxygenase 1 0 4 5
Ehlers-Danlos syndrome, classic type, 1 0 1 4 5
Lynch syndrome 4 2 0 3 5
Cystic fibrosis 2 0 2 4
Ehlers-Danlos syndrome, periodontal type 2 0 1 3 4
Hereditary pancreatitis 1 0 3 4
Marfan syndrome 1 2 1 4
Neurofibromatosis, type 1 1 1 2 4
Platelet-type bleeding disorder 16 0 0 4 4
Wilson disease 2 1 1 4
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 3 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 5 0 0 3 3
Colorectal cancer, susceptibility to, 10 0 0 3 3
Colorectal cancer, susceptibility to, 12 0 1 2 3
Ehlers-Danlos syndrome, classic type, 2 0 1 2 3
Epilepsy, familial focal, with variable foci 1 0 0 3 3
Factor XIII, A subunit, deficiency of 0 1 2 3
Familial Mediterranean fever, autosomal dominant 1 1 1 3
Ghosal hematodiaphyseal dysplasia 0 0 3 3
Hearing loss, autosomal recessive 106 1 0 2 3
Hereditary factor VIII deficiency disease 1 1 1 3
Hermansky-Pudlak syndrome 3 0 0 3 3
Hermansky-Pudlak syndrome 6 0 0 3 3
Intellectual disability, autosomal dominant 29 0 1 2 3
Kabuki syndrome 1 1 0 2 3
Kleefstra syndrome 2 0 1 2 3
Noonan syndrome 1 3 0 0 3
Platelet-type bleeding disorder 15 0 0 3 3
Protein Z deficiency 0 0 3 3
Sitosterolemia 1 0 0 3 3
Spermatogenic failure 40 0 0 3 3
Thrombophilia due to protein C deficiency, autosomal dominant 2 0 1 3
Thrombophilia due to protein S deficiency, autosomal dominant 1 1 1 3
3 beta-Hydroxysteroid dehydrogenase deficiency 0 0 2 2
Adult hypophosphatasia 1 1 0 2
Arrhythmogenic right ventricular dysplasia 9 1 1 0 2
Aspartylglucosaminuria 1 0 1 2
Autosomal dominant nonsyndromic hearing loss 11 0 0 2 2
Autosomal recessive nonsyndromic hearing loss 16 1 0 1 2
Autosomal recessive nonsyndromic hearing loss 3 0 1 1 2
Autosomal recessive nonsyndromic hearing loss 4 2 0 0 2
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 1 2
Bleeding disorder, platelet-type, 13, susceptibility to 0 0 2 2
Central core myopathy 0 1 1 2
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 2 2
Coffin-Siris syndrome 1 1 0 1 2
Colorectal cancer, hereditary nonpolyposis, type 2 1 0 1 2
Congenital bilateral aplasia of vas deferens from CFTR mutation 0 0 2 2
Congenital myasthenic syndrome 4A 1 0 1 2
Cornelia de Lange syndrome 1 0 0 2 2
Developmental and epileptic encephalopathy 99 1 0 1 2
Dilated cardiomyopathy 1G 0 0 2 2
Ehlers-Danlos syndrome, cardiac valvular type 0 0 2 2
Factor XIII, b subunit, deficiency of 0 0 2 2
Familial Mediterranean fever 2 0 0 2
Familial dysfibrinogenemia 1 1 0 2
Gorlin syndrome 0 0 2 2
Hemochromatosis type 1 1 0 1 2
Hereditary spastic paraplegia 7 2 0 0 2
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1 0 1 2
Hermansky-Pudlak syndrome 1 0 0 2 2
Heterotopia, periventricular, X-linked dominant 0 0 2 2
Hyperlysinemia 0 0 2 2
Intellectual disability, autosomal dominant 22 0 0 2 2
Intellectual disability, autosomal dominant 5 0 0 2 2
Intellectual disability, autosomal recessive 65 0 0 2 2
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 2 2
Landau-Kleffner syndrome 0 0 2 2
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 1 1 2
Malignant hyperthermia, susceptibility to, 1 0 1 1 2
Maturity-onset diabetes of the young type 2 1 0 1 2
Mitochondrial DNA deletion syndrome with progressive myopathy 0 1 1 2
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 0 2 2
Osteogenesis imperfecta type I 2 0 0 2
Periventricular nodular heterotopia 9 0 1 1 2
Peutz-Jeghers syndrome 0 0 2 2
Phenylketonuria 2 0 0 2
Pitt-Hopkins syndrome 1 0 1 2
Platelet-type bleeding disorder 10 1 1 0 2
Polycystic kidney disease 2 1 0 1 2
Premature ovarian failure 2A 0 0 2 2
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 0 2 2
Rett syndrome 2 0 0 2
SCOTT SYNDROME 0 0 2 2
Sessile serrated polyposis cancer syndrome 0 0 2 2
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 2 2
Spermatogenic failure 7 0 1 1 2
Tyrosinase-positive oculocutaneous albinism 2 0 0 2
Vas deferens, congenital bilateral aplasia of, X-linked 0 1 1 2
ADULT syndrome 0 0 1 1
Acrodermatitis continua suppurativa of Hallopeau 0 1 0 1
Adams-Oliver syndrome 5 0 0 1 1
Aicardi-Goutieres syndrome 7 0 0 1 1
Alagille syndrome due to a NOTCH2 point mutation 0 0 1 1
Allan-Herndon-Dudley syndrome 0 1 0 1
Alzheimer disease type 1 1 0 0 1
Amyotrophic lateral sclerosis type 23 0 0 1 1
Angioedema, hereditary, 8 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 1 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 1
Apolipoprotein c-III deficiency 0 0 1 1
Argininosuccinate lyase deficiency 0 1 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 0 1 1
Arthrogryposis multiplex congenita 5 1 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 2 0 1 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 1 0 1
Ataxia-telangiectasia syndrome 1 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 0 1 1
Autism, susceptibility to, 5 0 0 1 1
Autosomal dominant Robinow syndrome 3 0 1 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 0 1 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 1 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 13 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 56 0 0 1 1
Autosomal recessive Alport syndrome 1 0 0 1
Autosomal recessive ataxia due to ubiquinone deficiency 0 1 0 1
Autosomal recessive cutis laxa type 2B 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 2 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 7 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 9 0 0 1 1
Bardet-Biedl syndrome 2 0 0 1 1
Bernard Soulier syndrome 0 0 1 1
Bethlem myopathy 2 0 0 1 1
Bleeding disorder, platelet-type, 21 0 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 1
Bloom syndrome 1 0 0 1
Brain malformations with or without urinary tract defects 0 1 0 1
CBL-related disorder 0 0 1 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 1
Cardiac valvular dysplasia, X-linked 0 0 1 1
Carnitine palmitoyl transferase II deficiency, myopathic form 1 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 0 0 1 1
Cerebral cavernous malformation 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2N 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2U 0 1 0 1
Charcot-Marie-Tooth disease type 4C 0 0 1 1
Chopra-Amiel-Gordon syndrome 0 1 0 1
Chronic infantile neurological, cutaneous and articular syndrome 1 0 0 1
Ciliary dyskinesia, primary, 40 0 0 1 1
Clark-Baraitser syndrome 1 0 0 1
Coffin-Siris syndrome 10 0 1 0 1
Complex cortical dysplasia with other brain malformations 3 0 0 1 1
Complex cortical dysplasia with other brain malformations 7 0 0 1 1
Cone-rod dystrophy 6 0 0 1 1
Congenital amegakaryocytic thrombocytopenia 0 0 1 1
Congenital heart defects, multiple types, 2 0 1 0 1
Congenital myopathy with internal nuclei and atypical cores 0 0 1 1
Congenital myotonia, autosomal dominant form 0 0 1 1
Congenital myotonia, autosomal recessive form 0 0 1 1
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 1 0 1
Cornelia de Lange syndrome 5 1 0 0 1
Cutis laxa, autosomal dominant 3 0 0 1 1
Cyclical neutropenia 0 0 1 1
Deficiency of steroid 17-alpha-monooxygenase 0 0 1 1
Developmental and epileptic encephalopathy 94 1 0 0 1
Developmental and epileptic encephalopathy, 17 0 0 1 1
Developmental and epileptic encephalopathy, 24 0 1 0 1
Developmental and epileptic encephalopathy, 46 0 0 1 1
Developmental and epileptic encephalopathy, 67 0 0 1 1
Developmental and epileptic encephalopathy, 69 0 0 1 1
Developmental and epileptic encephalopathy, 70 0 0 1 1
Developmental and epileptic encephalopathy, 74 0 1 0 1
Developmental delay with autism spectrum disorder and gait instability 0 0 1 1
Developmental delay with dysmorphic facies and dental anomalies 1 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 1
Diabetes mellitus, permanent neonatal 2 1 0 0 1
Dilated cardiomyopathy 1II 0 0 1 1
Dilated cardiomyopathy 1S 0 0 1 1
Dowling-Degos disease 1 0 1 0 1
Ehlers-Danlos syndrome, arthrochalasia type 0 0 1 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 0 1 1
Ehlers-Danlos syndrome, type 4 0 0 1 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 1 1
Epidermolysis bullosa simplex 1A, generalized severe 0 1 0 1
Epidermolysis bullosa, junctional 4, intermediate 0 1 0 1
Epilepsy, childhood absence, susceptibility to, 6 0 0 1 1
Epilepsy, familial focal, with variable foci 4 0 0 1 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 1
Epilepsy, idiopathic generalized, susceptibility to, 16 0 0 1 1
Episodic ataxia type 5 0 0 1 1
Epithelial recurrent erosion dystrophy 0 1 0 1
FG syndrome 2 0 0 1 1
FRAXE 0 0 1 1
Fabry disease 1 0 0 1
Factor V deficiency 0 0 1 1
Familial adenomatous polyposis 1 0 0 1 1
Familial adenomatous polyposis 2 1 0 0 1
Familial adenomatous polyposis 3 1 0 0 1
Familial type 5 hyperlipoproteinemia 0 1 0 1
Fasting plasma glucose level quantitative trait locus 5 0 0 1 1
Fibrochondrogenesis 2 0 0 1 1
Finnish congenital nephrotic syndrome 1 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 0 1 1
Gastrointestinal stromal tumor 0 0 1 1
Generalized dominant dystrophic epidermolysis bullosa 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 1
Glycogen storage disease IXa1 0 0 1 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 1
Griscelli syndrome type 2 0 1 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 1
Hearing loss, autosomal dominant 71 0 0 1 1
Hearing loss, autosomal dominant 74 0 0 1 1
Hearing loss, autosomal recessive 108 0 0 1 1
Heimler syndrome 1 1 0 0 1
Hemorrhage, intracerebral, susceptibility to 0 0 1 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 1 0 1
Hereditary factor IX deficiency disease 0 0 1 1
Hereditary leiomyomatosis and renal cell cancer 0 0 1 1
Hereditary spastic paraplegia 10 0 0 1 1
Hereditary spastic paraplegia 11 0 1 0 1
Hereditary spastic paraplegia 4 0 0 1 1
Hereditary spastic paraplegia 50 1 0 0 1
Hereditary spherocytosis type 2 0 1 0 1
Hermansky-Pudlak syndrome 5 0 0 1 1
Hermansky-Pudlak syndrome 7 0 0 1 1
Hyperalphalipoproteinemia 1 0 0 1 1
Hypercholesterolemia, autosomal dominant, type B 0 0 1 1
Hyperlipidemia, familial combined, LPL related 1 0 0 1
Hyperphosphatasia with intellectual disability syndrome 2 0 0 1 1
Hypertrophic cardiomyopathy 1 1 0 0 1
Hypertrophic cardiomyopathy 9 0 0 1 1
Hypogonadotropic hypogonadism 14 with or without anosmia 0 0 1 1
Hypogonadotropic hypogonadism 17 with or without anosmia 0 0 1 1
Hypogonadotropic hypogonadism 24 without anosmia 0 0 1 1
Hypogonadotropic hypogonadism 5 with or without anosmia 0 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 1 0 1
Hypokalemic periodic paralysis, type 2 0 0 1 1
Immunodeficiency 60 0 0 1 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 0 1 1
Intellectual disability, X-linked 1 0 0 1 1
Intellectual disability, X-linked 104 0 0 1 1
Intellectual disability, X-linked 107 0 0 1 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 0 1 1
Intellectual disability, autosomal dominant 13 0 0 1 1
Intellectual disability, autosomal dominant 20 0 1 0 1
Intellectual disability, autosomal dominant 39 0 1 0 1
Intellectual disability, autosomal dominant 45 0 0 1 1
Intellectual disability, autosomal dominant 51 0 0 1 1
Intellectual disability, autosomal dominant 52 0 0 1 1
Intellectual disability, autosomal dominant 9 0 0 1 1
Intellectual disability, autosomal recessive 44 0 0 1 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 1 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 0 1
KBG syndrome 0 0 1 1
King Denborough syndrome 0 0 1 1
Kleefstra syndrome 1 0 0 1 1
Koolen-de Vries syndrome 0 0 1 1
Leber congenital amaurosis 2 1 0 0 1
Lesch-Nyhan syndrome 0 1 0 1
Long QT syndrome 1 1 0 0 1
Long QT syndrome 2 0 0 1 1
Lynch syndrome 8 0 0 1 1
MEHMO syndrome 0 0 1 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 1 0 1
Maturity-onset diabetes of the young type 1 0 0 1 1
Maturity-onset diabetes of the young type 3 0 1 0 1
Maturity-onset diabetes of the young type 7 0 0 1 1
Maturity-onset diabetes of the young type 8 0 0 1 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 1
Menke-Hennekam syndrome 1 0 1 0 1
Menke-Hennekam syndrome 2 0 0 1 1
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 1 0 1
Microcephaly 5, primary, autosomal recessive 0 0 1 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 0 1 1
Microcephaly, seizures, and developmental delay 0 1 0 1
Multiple endocrine neoplasia type 4 0 0 1 1
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 1
Neonatal severe primary hyperparathyroidism 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 1
Neurodevelopmental disorder with or without autism or seizures 1 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 1 1
Neurodevelopmental disorder with poor language and loss of hand skills 1 0 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 0 1 1
Neurofibromatosis-Noonan syndrome 0 0 1 1
Neuronal ceroid lipofuscinosis 2 1 0 0 1
Noonan syndrome 4 0 0 1 1
Noonan syndrome 9 0 0 1 1
O'Donnell-Luria-Rodan syndrome 0 0 1 1
Ocular albinism, type II 0 1 0 1
Oculopharyngeal muscular dystrophy 0 0 1 1
Okur-Chung neurodevelopmental syndrome 1 0 0 1
Oligodontia-cancer predisposition syndrome 0 0 1 1
Oocyte maturation defect 7 0 0 1 1
Osteogenesis imperfecta, perinatal lethal 0 1 0 1
Ovarian dysgenesis 2 0 0 1 1
Palmoplantar keratoderma i, striate, focal, or diffuse 0 0 1 1
Pendred syndrome 1 0 0 1
Pfeiffer syndrome 0 0 1 1
Phelan-McDermid syndrome 1 0 0 1
Pigmentary retinal dystrophy 0 0 1 1
Pigmented paravenous retinochoroidal atrophy 0 0 1 1
Platelet-type bleeding disorder 17 0 0 1 1
Polycystic kidney disease 4 0 1 0 1
Polycystic liver disease 3 with or without kidney cysts 1 0 0 1
Porencephaly 2 0 0 1 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 1 1
Premature ovarian failure 16 0 0 1 1
Premature ovarian failure 5 0 0 1 1
Primary ciliary dyskinesia 22 1 0 0 1
Pseudohypoparathyroidism type I A 0 0 1 1
Pyruvate kinase deficiency of red cells 0 1 0 1
Quebec platelet disorder 0 0 1 1
Radial aplasia-thrombocytopenia syndrome 0 1 0 1
Rauch-Steindl syndrome 1 0 0 1
Renpenning syndrome 1 0 0 1
Retinitis pigmentosa 39 1 0 0 1
Retinitis pigmentosa 48 0 0 1 1
Schwannomatosis 2 1 0 0 1
Seizures, benign familial infantile, 3 0 0 1 1
Seizures, benign familial neonatal, 2 0 0 1 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Smith-Magenis syndrome 0 0 1 1
Spermatogenic failure 33 1 0 0 1
Spermatogenic failure 34 0 0 1 1
Spermatogenic failure 39 0 1 0 1
Spermatogenic failure 43 0 0 1 1
Spermatogenic failure 45 0 0 1 1
Spermatogenic failure 48 1 0 0 1
Spermatogenic failure 8 0 0 1 1
Spermatogenic failure, Y-linked, 2 0 0 1 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 1 1
Spinocerebellar ataxia 47 0 0 1 1
Spinocerebellar ataxia type 42 0 0 1 1
Stickler syndrome type 2 0 0 1 1
Stormorken syndrome 0 0 1 1
Syndromic X-linked intellectual disability Nascimento type 0 0 1 1
TWIST1-related craniosynostosis 1 0 0 1
Tenorio syndrome 0 0 1 1
Thrombocythemia 2 0 0 1 1
Thrombocytopenia 5 0 0 1 1
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 1 0 0 1
Thrombocytopenia, anemia, and myelofibrosis 0 1 0 1
Thrombophilia due to protein C deficiency, autosomal recessive 1 0 0 1
Thrombophilia due to thrombin defect 0 0 1 1
Tibial muscular dystrophy 0 0 1 1
Tooth agenesis, selective, 1 0 0 1 1
Tooth agenesis, selective, 10 0 0 1 1
Trichorhinophalangeal dysplasia type I 0 1 0 1
Tuberous sclerosis 2 1 0 0 1
Ullrich congenital muscular dystrophy 1A 0 0 1 1
Usher syndrome type 2A 1 0 0 1
Vertebral, cardiac, renal, and limb defects syndrome 2 0 0 1 1
Vici syndrome 0 0 1 1
Weiss-kruszka syndrome 0 0 1 1
X-linked Alport syndrome 0 0 1 1
X-linked intellectual disability, Cantagrel type 0 0 1 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 1
alpha Thalassemia 1 0 0 1

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