ClinVar Miner

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

Location: Germany — Primary collection method: literature only
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
257 184 62 4 0 507

Gene and significance breakdown #

Total genes and gene combinations: 99
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
HNF1B 135 57 21 4 217
TUBA1A 68 52 1 0 121
LAMA5 0 4 3 0 7
UBR4 0 5 1 0 6
MACF1 0 2 3 0 5
MYH7B 1 1 3 0 5
NAA10 5 0 0 0 5
TSTD3, USP45 1 3 0 0 4
CEP76, PSMG2 0 1 2 0 3
CLGN 0 3 0 0 3
DNAH17 0 2 1 0 3
FBRS 0 2 1 0 3
HKDC1 0 3 0 0 3
OBSCN 0 2 1 0 3
PTPRU 0 2 1 0 3
SLC38A3 0 0 3 0 3
USP24 0 1 2 0 3
ZNF446 1 0 2 0 3
ADGRB3 0 2 0 0 2
CPZ 0 2 0 0 2
DENND4B 0 1 1 0 2
EDEM3 0 2 0 0 2
FOXC1 2 0 0 0 2
FZD2 0 1 1 0 2
GREB1L 0 2 0 0 2
HOOK3 0 2 0 0 2
IFT81 0 2 0 0 2
ITIH6 1 0 1 0 2
KCND1 0 2 0 0 2
LZTR1 1 1 0 0 2
MED13L 2 0 0 0 2
MED24 0 2 0 0 2
MXRA5 0 0 2 0 2
PDZRN3 0 2 0 0 2
PHF20 0 2 0 0 2
PLXNA3 0 2 0 0 2
RASA3 1 1 0 0 2
RNF31 0 2 0 0 2
ROS1 1 0 1 0 2
SLC7A8 0 2 0 0 2
SRPX 0 1 1 0 2
ZFC3H1 0 2 0 0 2
ZFHX3 0 1 1 0 2
ZNF449 0 0 2 0 2
ACTB 1 0 0 0 1
AEBP1 1 0 0 0 1
AHDC1 1 0 0 0 1
ALG12, ZBED4 1 0 0 0 1
AMMECR1 1 0 0 0 1
ANKRD11 1 0 0 0 1
ANKS3 1 0 0 0 1
ATP6V1B2 0 1 0 0 1
ATRX 0 0 1 0 1
BPTF 1 0 0 0 1
BRD4 0 1 0 0 1
CASK 1 0 0 0 1
CCDC120 0 0 1 0 1
CHD1L 1 0 0 0 1
CHD8 1 0 0 0 1
CLIC4 0 1 0 0 1
CLIP1 1 0 0 0 1
DPF2 1 0 0 0 1
DPRX 1 0 0 0 1
FGF18 0 1 0 0 1
GABRA1 1 0 0 0 1
GABRE 1 0 0 0 1
GNAS 0 1 0 0 1
H2AP, SYTL5 1 0 0 0 1
IFIH1 1 0 0 0 1
JAKMIP1 0 0 1 0 1
KCNQ2 1 0 0 0 1
KMT2A 1 0 0 0 1
KRAS 1 0 0 0 1
LRRC7 0 0 1 0 1
MAOA 0 1 0 0 1
MED12 0 0 1 0 1
MTA3 0 1 0 0 1
N4BP2L2 1 0 0 0 1
OSBP 1 0 0 0 1
PIK3C2A 1 0 0 0 1
POLR2E 1 0 0 0 1
PSMD11 1 0 0 0 1
PUM1 0 0 1 0 1
PYGB 0 1 0 0 1
RIT1 1 0 0 0 1
RUNX1T1 1 0 0 0 1
SETD5 1 0 0 0 1
SIN3A 1 0 0 0 1
SMARCA5 0 1 0 0 1
TCF4 1 0 0 0 1
TRAPPC11 1 0 0 0 1
USP51 1 0 0 0 1
VWCE 1 0 0 0 1
WAC 1 0 0 0 1
WDR6 0 1 0 0 1
ZBTB18 1 0 0 0 1
ZMYND11 1 0 0 0 1
ZMYND8 0 0 1 0 1
ZNF292 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 34
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Renal cysts and diabetes syndrome 135 57 21 4 217
Short stature 23 72 34 0 129
Tubulinopathies 68 52 1 0 121
Intellectual disability 2 0 4 0 6
N-terminal acetyltransferase deficiency 5 0 0 0 5
Mental retardation and distinctive facial features with or without cardiac defects 2 0 0 0 2
ATR-X syndrome 0 0 1 0 1
Aicardi-Goutieres syndrome 7 1 0 0 0 1
Anterior segment dysgenesis 3 1 0 0 0 1
Autism, susceptibility to, 18 1 0 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 0 1
Baraitser-Winter syndrome 1 1 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 1
Desanto-shinawi syndrome 1 0 0 0 1
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 1 0 0 0 1
Early infantile epileptic encephalopathy 7 1 0 0 0 1
Epileptic encephalopathy, early infantile, 19 1 0 0 0 1
KBG syndrome 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2S 1 0 0 0 1
Lissencephaly 3 1 0 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1 0 0 0 1
Mental retardation, autosomal dominant 22 1 0 0 0 1
Mental retardation, autosomal dominant 23 1 0 0 0 1
Mental retardation, autosomal dominant 30 1 0 0 0 1
Monoamine oxidase A deficiency 0 1 0 0 1
Noonan syndrome 3 1 0 0 0 1
Noonan syndrome 8 1 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 1
Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism 0 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 1
Witteveen-kolk syndrome 1 0 0 0 1
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome; Ohdo syndrome, X-linked 0 0 1 0 1
Xia-Gibbs syndrome 1 0 0 0 1
Zimmermann-Laband syndrome 2 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.