ClinVar Miner

Variants from Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

Location: Germany  Primary collection method: literature only
Minimum submission review status: Collection method:
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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
319 224 71 11 2 626

Gene and significance breakdown #

Total genes and gene combinations: 206
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HNF1B 122 46 17 2 0 187
TUBA1A 64 48 1 0 0 112
HNF1B, LOC126862549 13 11 4 2 0 30
BRCA2 6 1 0 0 0 7
LAMA5 0 4 3 0 0 7
MACF1 0 2 3 0 0 5
MYH7B 1 1 3 0 0 5
NAA10 5 0 0 0 0 5
UBR4 0 4 1 0 0 5
BRCA1 4 0 0 0 0 4
CHEK2 3 1 0 0 0 4
TSTD3, USP45 1 3 0 0 0 4
CEP76, PSMG2 0 1 2 0 0 3
CLGN 0 3 0 0 0 3
DNAH17 0 2 1 0 0 3
FBRS 0 2 1 0 0 3
OBSCN 0 2 1 0 0 3
SLC38A3 0 0 3 0 0 3
USP24 0 1 2 0 0 3
ZNF446 1 0 2 0 0 3
ADGRB3 0 2 0 0 0 2
ANKRD11 2 0 0 0 0 2
CPZ 0 2 0 0 0 2
DENND4B 0 1 1 0 0 2
DICER1 2 0 0 0 0 2
EDEM3 0 2 0 0 0 2
EHMT1 0 1 0 1 0 2
FOXC1 2 0 0 0 0 2
FZD2 0 1 1 0 0 2
GREB1L, LOC101927521 0 2 0 0 0 2
HKDC1 0 2 0 0 0 2
HOOK3 0 2 0 0 0 2
IFIH1 1 1 0 0 0 2
IFT81 0 2 0 0 0 2
ITIH6 1 0 1 0 0 2
KCND1 0 2 0 0 0 2
MED13L 2 0 0 0 0 2
MED24 0 2 0 0 0 2
MLC1 2 0 0 0 0 2
MSH2 2 0 0 0 0 2
MXRA5 0 0 2 0 0 2
NF1 2 0 0 0 0 2
PDZRN3 0 2 0 0 0 2
PHF20 0 2 0 0 0 2
PLXNA3 0 2 0 0 0 2
PTPRU 0 1 1 0 0 2
RASA3 1 1 0 0 0 2
RNF31 0 2 0 0 0 2
ROS1 1 0 1 0 0 2
SETD5 1 1 0 0 0 2
SLC7A8 0 2 0 0 0 2
SMARCA4 0 0 0 1 1 2
SRD5A3 0 2 0 0 0 2
SRPX 0 1 1 0 0 2
STXBP1 1 0 1 0 0 2
SYNGAP1 0 1 1 0 0 2
TCF20 1 0 0 1 0 2
XPNPEP3 0 2 0 0 0 2
ZFC3H1 0 2 0 0 0 2
ZFHX3 0 1 1 0 0 2
ZNF449 0 0 2 0 0 2
ACTB 1 0 0 0 0 1
ADGRL1 1 0 0 0 0 1
AEBP1 1 0 0 0 0 1
AFF4 0 0 0 1 0 1
AHDC1 1 0 0 0 0 1
AKT3 1 0 0 0 0 1
ALG12, ZBED4 1 0 0 0 0 1
AMMECR1 1 0 0 0 0 1
ANKRD17 0 1 0 0 0 1
ANKS3 1 0 0 0 0 1
ANOS1 1 0 0 0 0 1
AR 1 0 0 0 0 1
ARID1B 1 0 0 0 0 1
ATL1 0 1 0 0 0 1
ATM, C11orf65 1 0 0 0 0 1
ATP6V1B2 0 1 0 0 0 1
ATRX 0 0 1 0 0 1
AUTS2 0 0 0 0 1 1
BAP1 1 0 0 0 0 1
BARD1 0 1 0 0 0 1
BCL11A 0 1 0 0 0 1
BPTF 1 0 0 0 0 1
BRD4 0 1 0 0 0 1
CACNA1A 1 0 0 0 0 1
CALM2 0 1 0 0 0 1
CASK 1 0 0 0 0 1
CCDC120 0 0 1 0 0 1
CHD1L 1 0 0 0 0 1
CHD3 1 0 0 0 0 1
CHD8 1 0 0 0 0 1
CLIC4 0 1 0 0 0 1
CLIP1 1 0 0 0 0 1
CNOT3, LENG1 0 1 0 0 0 1
CPE 1 0 0 0 0 1
CREBBP 0 1 0 0 0 1
CSNK2B, LY6G5B 0 1 0 0 0 1
CTBP1 1 0 0 0 0 1
CYFIP2 0 0 1 0 0 1
DDX23 1 0 0 0 0 1
DIAPH1 1 0 0 0 0 1
DPF2 1 0 0 0 0 1
DPRX 1 0 0 0 0 1
DSP 0 1 0 0 0 1
ERF 1 0 0 0 0 1
ETV6 0 1 0 0 0 1
FGF18 0 1 0 0 0 1
FRMPD4 0 1 0 0 0 1
GABRA1 1 0 0 0 0 1
GABRA2 1 0 0 0 0 1
GABRB2 0 0 0 1 0 1
GABRD 0 1 0 0 0 1
GABRE 1 0 0 0 0 1
GNAS 0 1 0 0 0 1
GRIA3 0 1 0 0 0 1
GRID2 1 0 0 0 0 1
GRIN2B 0 1 0 0 0 1
H2AP, SYTL5 1 0 0 0 0 1
HIVEP2 0 0 0 1 0 1
HKDC1, LOC126860950 0 1 0 0 0 1
HNRNPU 1 0 0 0 0 1
HPGD 1 0 0 0 0 1
JAKMIP1 0 0 1 0 0 1
KANSL1 1 0 0 0 0 1
KCNB1 0 1 0 0 0 1
KCNC2 0 1 0 0 0 1
KCNQ2 1 0 0 0 0 1
KDM4B 0 1 0 0 0 1
KDM6A 0 0 1 0 0 1
KMT2A 1 0 0 0 0 1
KMT2B 0 1 0 0 0 1
KRAS 1 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 1
LOC122056818, PTPRU 0 1 0 0 0 1
LOC126805641, UBR4 0 1 0 0 0 1
LOC126806462, SATB2 0 1 0 0 0 1
LOC129996783, ZNF292 0 1 0 0 0 1
LOC130009266, POLE 1 0 0 0 0 1
LOC130067016, LZTR1 0 1 0 0 0 1
LRRC7 0 0 1 0 0 1
LZTR1 1 0 0 0 0 1
MAF 0 1 0 0 0 1
MAGED2 1 0 0 0 0 1
MAOA 0 1 0 0 0 1
MAP4K4 0 1 0 0 0 1
MAPK8IP3 0 1 0 0 0 1
MECP2 1 0 0 0 0 1
MED12 0 0 1 0 0 1
MTA3 0 1 0 0 0 1
MYBPC3 1 0 0 0 0 1
N4BP2L2 1 0 0 0 0 1
NAA15 1 0 0 0 0 1
NR4A2 1 0 0 0 0 1
NSD2 1 0 0 0 0 1
OBI1, POU4F1 1 0 0 0 0 1
OCRL 0 0 1 0 0 1
OSBP 1 0 0 0 0 1
PAK1 0 0 0 1 0 1
PALB2 0 1 0 0 0 1
PDHA1 0 0 1 0 0 1
PIK3C2A 1 0 0 0 0 1
PIK3CA 1 0 0 0 0 1
POGZ 0 1 0 0 0 1
POLE 0 1 0 0 0 1
POLR2E 1 0 0 0 0 1
PPM1D 1 0 0 0 0 1
PRR12 1 0 0 0 0 1
PSMD11 1 0 0 0 0 1
PTCH1 1 0 0 0 0 1
PTEN 0 1 0 0 0 1
PTPN11 0 0 1 0 0 1
PUM1 0 0 1 0 0 1
PYGB 0 1 0 0 0 1
QRICH1 1 0 0 0 0 1
RAD51C 1 0 0 0 0 1
RAD51D, RAD51L3-RFFL 1 0 0 0 0 1
RAI1 1 0 0 0 0 1
RARB 0 1 0 0 0 1
RELA 1 0 0 0 0 1
RFX7 0 1 0 0 0 1
RIT1 1 0 0 0 0 1
RORA 1 0 0 0 0 1
RUNX1T1 1 0 0 0 0 1
SALL1 0 0 1 0 0 1
SAMHD1 0 1 0 0 0 1
SETD1B 1 0 0 0 0 1
SIN3A 1 0 0 0 0 1
SMARCA5 0 1 0 0 0 1
SNHG14, UBE3A 1 0 0 0 0 1
SPRED1 0 1 0 0 0 1
SPTB 1 0 0 0 0 1
TCF4 1 0 0 0 0 1
TFE3 0 1 0 0 0 1
TRAPPC11 1 0 0 0 0 1
TRIM8 1 0 0 0 0 1
TRIP12 0 1 0 0 0 1
USP51 1 0 0 0 0 1
VWCE 1 0 0 0 0 1
WAC 1 0 0 0 0 1
WDR6 0 1 0 0 0 1
WNT10A 0 1 0 0 0 1
ZBTB18 1 0 0 0 0 1
ZMIZ1 0 0 1 0 0 1
ZMYND11 1 0 0 0 0 1
ZMYND8 0 0 1 0 0 1
ZNF292 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 110
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Renal cysts and diabetes syndrome 135 57 21 4 0 217
Short stature 23 72 34 0 0 129
Tubulinopathy 63 47 1 0 0 111
not provided 21 14 2 4 1 42
Intellectual disability 2 0 4 0 0 6
Ogden syndrome 5 0 0 0 0 5
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2 0 0 0 0 2
Coffin-Siris syndrome 1 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 4 1 0 1 0 0 2
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 1 1 0 0 0 2
Intellectual developmental disorder, autosomal dominant 65 0 1 1 0 0 2
Intellectual disability, autosomal dominant 5 0 1 1 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 1 0 0 0 2
KBG syndrome 2 0 0 0 0 2
Kleefstra syndrome 1 0 1 0 1 0 2
Lissencephaly type 3 1 1 0 0 0 2
Lynch syndrome 2 0 0 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 2 0 0 0 0 2
Nephronophthisis-like nephropathy 1 0 2 0 0 0 2
SRD5A3-congenital disorder of glycosylation 0 2 0 0 0 2
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 0 0 1
Aicardi-Goutieres syndrome 7 1 0 0 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 0 1
Angelman syndrome 1 0 0 0 0 1
Anterior segment dysgenesis 3 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 0 0 1
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type R18 1 0 0 0 0 1
Autosomal recessive spinocerebellar ataxia 18 1 0 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 0 1
Baraitser-Winter syndrome 1 1 0 0 0 0 1
Bartter disease type 5 1 0 0 0 0 1
Blakemore-Durmaz-Vasileiou (BDV) syndrome 1 0 0 0 0 1
Brunner syndrome 0 1 0 0 0 1
CLOVES syndrome 1 0 0 0 0 1
Chopra-Amiel-Gordon syndrome 0 1 0 0 0 1
Clark-Baraitser syndrome 0 1 0 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 0 1 0 1
Cowden syndrome 1 0 1 0 0 0 1
Craniosynostosis 4 1 0 0 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 0 1
Developmental and epileptic encephalopathy 103 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 19 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 26 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 42 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 78 1 0 0 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 0 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 1 0 0 0 0 1
Dias-Logan syndrome 0 1 0 0 0 1
Dystonia 28, childhood-onset 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic-like, 2 1 0 0 0 0 1
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 1 0 0 0 0 1
Hereditary spherocytosis type 2 1 0 0 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 0 0 0 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 1 0 0 0 0 1
Hypospadias 1, X-linked 1 0 0 0 0 1
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 1 0 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 1 0 0 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 1 0 0 0 0 1
Intellectual developmental disorder with seizures and language delay 1 0 0 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 1 0 0 0 1
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 0 1
Intellectual disability, X-linked 104 0 1 0 0 0 1
Intellectual disability, autosomal dominant 22 1 0 0 0 0 1
Intellectual disability, autosomal dominant 30 1 0 0 0 0 1
Intellectual disability, autosomal dominant 43 0 0 0 1 0 1
Intellectual disability, mild 1 0 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 1
Kury-Isidor syndrome 1 0 0 0 0 1
Legius syndrome 0 1 0 0 0 1
Li-Fraumeni syndrome 2 1 0 0 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 0 1
Long QT syndrome 15 0 1 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 1 0 0 0 0 1
Menke-Hennekam syndrome 1 0 1 0 0 0 1
Mucocutaneous ulceration, chronic 1 0 0 0 0 1
Neoplasm of ovary 0 0 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 0 1 0 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 1 0 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 0 1
Neuroocular syndrome 1 0 0 0 0 1
Noonan syndrome 1 0 0 1 0 0 1
Noonan syndrome 3 1 0 0 0 0 1
Noonan syndrome 8 1 0 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 0 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 1 0 0 0 0 1
Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism 0 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 0 0 1
Rauch-Steindl syndrome 1 0 0 0 0 1
Rett syndrome 1 0 0 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 1 0 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 1
Snijders Blok-Campeau syndrome 1 0 0 0 0 1
Syndromic X-linked intellectual disability 94 0 1 0 0 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 0 0 1
Thrombocytopenia 5 0 1 0 0 0 1
Tooth agenesis, selective, 4 0 1 0 0 0 1
Townes-Brocks syndrome 1 0 0 1 0 0 1
Von Hippel-Lindau syndrome 1 0 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 0 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 0 1
Zimmermann-Laband syndrome 2 0 1 0 0 0 1

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