ClinVar Miner

Variants from Institute of Human Genetics,University of Wuerzburg

Location: Germany — 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
34 52 83 0 0 169

Gene and significance breakdown #

Total genes and gene combinations: 89
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
ALPL 1 5 10 16
SMCHD1 1 5 6 12
DMD 2 5 0 7
FLNC 0 2 3 5
MYH7 0 1 4 5
TTN 3 2 0 5
ANO5 0 2 2 4
BRCA2 2 1 1 4
DYSF 1 1 2 4
NF1 2 0 2 4
RYR1 0 2 2 4
SERPING1 0 2 2 4
ATM 2 0 1 3
MED25 0 0 3 3
PKD1 1 1 1 3
FBN1 0 1 1 2
LAMA2 0 2 0 2
LMNA 0 1 1 2
LOC105371049, PKD1 1 1 0 2
MSH2 1 1 0 2
MSH6 2 0 0 2
PIEZO2 0 0 2 2
PLA2G6 0 0 2 2
PTEN 2 0 0 2
RBM20 1 0 1 2
SPG7 1 0 1 2
TWIST1 0 0 2 2
ABCB7, AKAP4, ALAS2, AMER1, APEX2, AR, ARAF, ARHGEF9, ARR3, ASB12, ATP6AP2, AWAT1, AWAT2, BCOR, BMP15, CACNA1F, CASK, CCDC120, CCDC22, CCNB3, CDK16, CDX4, CFAP47, CFP, CHIC1, CHST7, CITED1, CLCN5, CXCR3, CXorf22, CXorf30, CXorf38, CXorf49, CXorf49B, CXorf65, CYBB, DDX3X, DGAT2L6, DGKK, DIPK2B, DLG3, DMD, DMRTC1, DMRTC1B, DUSP21, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, ELK1, ERAS, ERCC6L, FAAH2, FAM104B, FAM120C, FAM155B, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FGD1, FOXO4, FOXP3, FOXR2, FTHL18, FTSJ1, FTX, FUNDC1, GAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE8, GATA1, GCNA, GDPD2, GJB1, GLOD5, GNL3L, GPKOW, GPR173, GPR34, GPR82, GRIPAP1, GSPT2, H2AP, HDAC6, HDAC8, HEPH, HSD17B10, HUWE1, IGBP1, IL2RG, INE1, IQSEC2, ITGB1BP2, ITIH6, JADE3, JPX, KCND1, KDM5C, KDM6A, KIF4A, KLF8, KRBOX4, LANCL3, LAS1L, LINC01560, MAGEB16, MAGED1, MAGED2, MAGED4, MAGED4B, MAGEE2, MAGEH1, MAGIX, MAOA, MAOB, MED12, MED14, MID1IP1, MIR221, MIR222, MIR223, MIR502, MIR532, MIR98, MIRLET7F2, MPC1L, MSN, MTMR8, MTRNR2L10, NAP1L2, NDP, NDUFB11, NEXMIF, NHSL2, NLGN3, NONO, NUDT10, NUDT11, NYX, OGT, OPHN1, OTC, OTUD5, OTUD6A, P2RY4, PABPC1L2A, PABPC1L2B, PAGE1, PAGE2, PAGE2B, PAGE3, PAGE4, PAGE5, PCSK1N, PDZD11, PFKFB1, PHF8, PHKA1, PIM2, PIN4, PJA1, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, PRRG1, RAB41, RBM10, RBM3, RGN, RIBC1, RLIM, RP2, RPGR, RPS4X, RRAGB, RTL5, SHROOM4, SLC16A2, SLC35A2, SLC38A5, SLC7A3, SLC9A7, SMC1A, SNORA11, SNX12, SPACA5, SPACA5B, SPANXN5, SPIN2A, SPIN2B, SPIN3, SPIN4, SRPX, SSX1, SSX2, SSX2B, SSX3, SSX4, SSX4B, SSX5, SSX7, STARD8, SUV39H1, SYN1, SYP, SYTL5, TAF1, TBC1D25, TEX11, TFE3, TIMM17B, TIMP1, TMEM47, TRO, TSIX, TSPAN7, TSPYL2, TSR2, UBA1, UBQLN2, UPRT, USP11, USP27X, USP51, USP9X, UXT, VSIG4, WAS, WDR13, WDR45, WNK3, XAGE1A, XAGE1B, XAGE2, XAGE3, XAGE5, XIST, XK, YIPF6, ZC3H12B, ZC4H2, ZCCHC13, ZDHHC15, ZMYM3, ZNF157, ZNF182, ZNF41, ZNF630, ZNF674, ZNF81, ZXDA, ZXDB 0 1 0 1
AMHR2 1 0 0 1
AP5Z1 0 0 1 1
ASTN2, TRIM32 1 0 0 1
BRCA1 0 0 1 1
CACNA1A 0 0 1 1
CDH1 0 0 1 1
CFL2 0 0 1 1
CHEK2 0 1 0 1
COL12A1 0 1 0 1
COL6A3 0 0 1 1
COX6A1 0 1 0 1
CTF1 0 0 1 1
DHTKD1 0 0 1 1
DSP 0 1 0 1
DYNC1H1 0 0 1 1
EGR2 0 0 1 1
F9 1 0 0 1
FHL1 0 0 1 1
FPGT-TNNI3K, TNNI3K 0 0 1 1
GAA 1 0 0 1
GABRB3 0 0 1 1
GCH1 1 0 0 1
GMPPB 0 1 0 1
GRM1 0 0 1 1
HCN4 0 0 1 1
HINT1 0 1 0 1
INCA1, KIF1C 0 1 0 1
ITPR1 0 0 1 1
KCNQ1 0 1 0 1
KDM1A 0 0 1 1
KIF5A 0 0 1 1
KMT2A 1 0 0 1
LARP7 0 1 0 1
LRP5 0 1 0 1
LRP6 1 0 0 1
MHRT, MYH7 0 1 0 1
MLH1 1 0 0 1
MYBPC3 0 1 0 1
MYOT 0 0 1 1
NONO 0 0 1 1
PALB2 1 0 0 1
POLG 0 0 1 1
PTCH1 0 0 1 1
PYGM 0 0 1 1
RECQL4 0 0 1 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 1
RYR2 0 0 1 1
SACS 1 0 0 1
SCN5A 0 1 0 1
SGCG 0 0 1 1
STK38 0 0 1 1
TCAP 1 0 0 1
TCF12 0 1 0 1
TG 0 1 0 1
TGM6 0 0 1 1
TNNT2 0 0 1 1
TRIM2 0 0 1 1
TRIM63 0 1 0 1
VCL 0 0 1 1
WDR62 0 0 1 1
ZFYVE27 0 0 1 1

Condition and significance breakdown #

Total conditions: 65
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Primary dilated cardiomyopathy 3 4 11 18
Low alkaline phosphatase 1 5 10 16
Elevated serum creatine phosphokinase 4 8 0 12
Scapulohumeral muscular dystrophy 1 5 6 12
Polyneuropathy 1 0 7 8
Muscular Diseases 1 0 5 6
Spastic paraplegia 1 0 5 6
Breast carcinoma 1 1 3 5
Angioedema 0 2 2 4
Hypertrophic cardiomyopathy 0 2 2 4
Polycystic kidney dysplasia 2 1 1 4
Coronal craniosynostosis 0 1 2 3
Muscle weakness 0 0 3 3
Abnormality of connective tissue 0 2 0 2
Arrhythmia 0 1 1 2
Cerebellar ataxia 0 0 2 2
Colon cancer 2 0 0 2
Congenital contracture 0 0 2 2
Global developmental delay 0 0 2 2
Hereditary nonpolyposis colorectal carcinoma 2 0 0 2
Intellectual disability 1 1 0 2
Iron accumulation in brain 0 0 2 2
Left ventricular noncompaction cardiomyopathy 1 0 1 2
Malignant hyperthermia 0 1 1 2
Multiple cafe-au-lait spots 0 0 2 2
Muscular hypotonia 0 2 0 2
Neoplasm 2 0 0 2
Neoplasm of ovary 1 0 1 2
Neoplasm of the breast 1 1 0 2
Proximal muscle weakness 1 0 1 2
Absent radius 0 0 1 1
Aortic dissection 0 0 1 1
Basal cell carcinoma 0 0 1 1
Cardiomyopathy 0 1 0 1
Congenital muscular dystrophy 0 1 0 1
Distal amyotrophy 0 0 1 1
Distal lower limb muscle weakness 0 1 0 1
Distal muscle weakness 0 1 0 1
Dystonia 1 0 0 1
Episodic ataxia 0 0 1 1
Follicular thyroid carcinoma 1 0 0 1
Hypothyroidism 0 1 0 1
Immunodeficiency 0 0 1 1
Left ventricular noncompaction 0 1 0 1
Male pseudohermaphroditism 1 0 0 1
Microcephaly 0 0 1 1
Mild global developmental delay 0 0 1 1
Multiple joint contractures 0 0 1 1
Muscular dystrophy 0 1 0 1
Neoplasm of the rectum 0 1 0 1
Neurofibromas 1 0 0 1
Oligodontia 1 0 0 1
Peripheral axonal neuropathy 0 0 1 1
Peripheral neuropathy 0 1 0 1
Prolonged QT interval 0 1 0 1
Reduced factor IX activity 1 0 0 1
Renal insufficiency 0 1 0 1
Restrictive cardiomyopathy 0 1 0 1
Sensory axonal neuropathy 0 1 0 1
Spastic ataxia 0 1 0 1
Spinal neurofibromas 1 0 0 1
Syncope 0 0 1 1
Vitreoretinopathy 0 1 0 1
not provided 1 0 0 1
not specified 0 0 1 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.