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 not provided total
59 158 232 10 7 40 505

Gene and significance breakdown #

Total genes and gene combinations: 234
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMCHD1 4 7 18 1 0 0 30
TTN 3 8 2 3 1 8 25
DMD 8 14 2 0 0 0 24
ALPL 1 5 10 0 0 0 16
MYH7 1 4 8 0 0 3 16
FLNC 0 5 9 0 0 0 14
MYBPC3 2 5 3 0 0 0 10
RYR1 0 3 5 0 0 0 8
VCL 0 0 1 0 0 7 8
ABCC9 0 0 0 0 1 5 6
DYSF 1 1 4 0 0 0 6
MYH6 0 0 1 0 0 5 6
ANO5 0 2 3 0 0 0 5
DSP 0 2 1 1 0 1 5
LAMA2 1 3 1 0 0 0 5
LDB3 0 0 0 0 0 5 5
LMNA 0 2 3 0 0 0 5
PKD1 2 2 1 0 0 0 5
BRCA2 2 1 1 0 0 0 4
COL6A3 0 1 3 0 0 0 4
GJB1 0 4 0 0 0 0 4
NEXN 0 0 1 0 0 3 4
NF1 2 0 2 0 0 0 4
PTPRQ 3 1 0 0 0 0 4
SERPING1 0 2 2 0 0 0 4
SGCA 0 1 3 0 0 0 4
WASHC5 0 1 3 0 0 0 4
ANKRD1 0 0 0 0 2 1 3
ATM 2 0 1 0 0 0 3
BMPR2 0 2 1 0 0 0 3
COL6A1 0 2 1 0 0 0 3
DAG1 0 3 0 0 0 0 3
DHTKD1 0 0 3 0 0 0 3
DYNC1H1 0 0 3 0 0 0 3
FKRP 1 0 2 0 0 0 3
JPH2 0 0 1 1 0 1 3
MED25 0 0 3 0 0 0 3
MME 0 1 2 0 0 0 3
MPZ 0 3 0 0 0 0 3
MYPN 0 0 2 0 0 1 3
PIEZO2 0 1 2 0 0 0 3
PYGM 0 0 3 0 0 0 3
RBM20 1 0 2 0 0 0 3
ANKRD11 0 2 0 0 0 0 2
CACNA1A 0 1 1 0 0 0 2
CAPN3 0 1 1 0 0 0 2
COL6A2 0 1 1 0 0 0 2
DIAPH1 0 2 0 0 0 0 2
DNAH11 0 0 2 0 0 0 2
DNAH9 0 2 0 0 0 0 2
FBN1 0 1 1 0 0 0 2
FHL1 0 1 1 0 0 0 2
GAA 1 0 1 0 0 0 2
GMPPB 0 1 1 0 0 0 2
IARS1 0 1 1 0 0 0 2
MCM3AP 0 0 2 0 0 0 2
MFN2 0 0 2 0 0 0 2
MSH2 1 1 0 0 0 0 2
MSH6 2 0 0 0 0 0 2
MYH2, MYHAS 0 2 0 0 0 0 2
NEFH 0 0 2 0 0 0 2
NEFL 0 0 2 0 0 0 2
PLA2G6 0 0 2 0 0 0 2
POMGNT1, TSPAN1 0 0 2 0 0 0 2
PTEN 2 0 0 0 0 0 2
RYR2 0 0 2 0 0 0 2
SBF1 0 0 2 0 0 0 2
SGCG 0 0 2 0 0 0 2
STXBP1 0 1 2 0 0 0 2
TNNI3 0 2 0 0 0 0 2
TNNT2 0 0 1 0 1 0 2
TRPV4 0 0 2 0 0 0 2
TWIST1 0 0 2 0 0 0 2
USH2A 0 0 2 0 0 0 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, CXorf38, CXorf49, CXorf49B, CXorf65, CYBB, DDX3X, DGAT2L6, DGKK, DIPK2B, DLG3, DMD, DMRTC1, DMRTC1B, DUSP21, DYNLT3, EBP, EDA, EDA2R, EFHC2, EFNB1, ELK1, ERAS, ERCC6L, FAAH2, FAM120C, FAM156A, FAM156B, FAM47A, FAM47B, FAM47C, FGD1, FOXO4, FOXP3, FOXR2, 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, NALF2, 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, VCF2, 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 0 0 0 1
ACAN 0 1 0 0 0 0 1
ACTC1, GJD2-DT 0 0 0 0 1 0 1
AIFM1, RAB33A 0 0 1 0 0 0 1
ALPK3 0 0 1 0 0 0 1
AMHR2 1 0 0 0 0 0 1
AP4E1 0 0 1 0 0 0 1
AP5Z1 0 0 1 0 0 0 1
ASTN2, TRIM32 1 0 0 0 0 0 1
BAG3 0 0 1 0 0 0 1
BRCA1 0 0 1 0 0 0 1
BRPF1 0 0 1 0 0 0 1
CALR3 0 0 1 0 0 0 1
CAMK2B 0 0 1 0 0 0 1
CARD14, SGSH 1 0 0 0 0 0 1
CDCA7L, DNAH11 0 1 0 0 0 0 1
CDH1 0 0 1 0 0 0 1
CFAP300 0 1 0 0 0 0 1
CFL2 0 0 1 0 0 0 1
CHEK2 0 1 0 0 0 0 1
CKAP2L 0 1 0 0 0 0 1
CLCN4 0 0 1 0 0 0 1
CLTC 0 1 0 0 0 0 1
COL11A1 0 0 1 0 0 0 1
COL12A1 0 1 0 0 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 0 1
COL6A3, LOC126806573 0 0 1 0 0 0 1
COMP 0 1 0 0 0 0 1
COPA 0 0 1 0 0 0 1
COQ8A 0 1 0 0 0 0 1
COX6A1 0 1 0 0 0 0 1
CSRP3 0 1 0 0 0 0 1
CTF1, LOC130058878 0 0 1 0 0 0 1
CYP2R1, PDE3B 0 0 1 0 0 0 1
DCTN1 0 0 1 0 0 0 1
DDHD1 0 0 1 0 0 0 1
DES 0 0 1 0 0 0 1
DGAT2 0 0 1 0 0 0 1
DMXL2 0 0 1 0 0 0 1
DNAH11, LOC126859961 0 1 0 0 0 0 1
DNAJB6 0 0 1 0 0 0 1
DNM2 0 0 1 0 0 0 1
DNMT3A 0 1 0 0 0 0 1
DPP6 0 0 1 0 0 0 1
DYSF, LOC122787137 0 1 0 0 0 0 1
EGR2 0 0 1 0 0 0 1
F8 0 1 0 0 0 0 1
F9 1 0 0 0 0 0 1
FARS2 0 0 1 0 0 0 1
FBXO11 0 1 0 0 0 0 1
FLNB 0 0 1 0 0 0 1
FOXG1 0 0 1 0 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 0 0 0 1
GABBR2 0 0 1 0 0 0 1
GABRB3 0 0 1 0 0 0 1
GAN, LOC130059498 0 1 0 0 0 0 1
GARS1 0 0 1 0 0 0 1
GATAD1 0 0 0 1 0 0 1
GCH1 1 0 0 0 0 0 1
GDAP1 0 0 1 0 0 0 1
GPSM2 0 1 0 0 0 0 1
GRIN2A 0 1 0 0 0 0 1
GRM1 0 0 1 0 0 0 1
HARS1 0 0 1 0 0 0 1
HCN4 0 0 1 0 0 0 1
HEXA 0 0 1 0 0 0 1
HINT1 0 1 0 0 0 0 1
HSPB8 0 0 1 0 0 0 1
ISCU 0 0 1 0 0 0 1
ITPR1 0 0 1 0 0 0 1
KCNH2 0 1 0 0 0 0 1
KCNMA1 0 0 1 0 0 0 1
KCNQ1 0 1 0 0 0 0 1
KDM1A 0 0 1 0 0 0 1
KDM4B 0 0 1 0 0 0 1
KIF1B 0 0 1 0 0 0 1
KIF1C, LOC126862472 0 1 0 0 0 0 1
KIF5A 0 0 1 0 0 0 1
KMT2A 1 0 0 0 0 0 1
LAMA4 0 0 1 0 0 0 1
LARP7 0 1 0 0 0 0 1
LMNA, LOC129931597 0 0 0 1 0 0 1
LOC126806423, TTN 1 0 0 0 0 0 1
LOC126806424, TTN 1 0 0 0 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 0 0 0 1
LOC126863188, SHANK3 0 0 1 0 0 0 1
LOC127814297, POU4F3 0 1 0 0 0 0 1
LOC130059818, SPG7 1 0 0 0 0 0 1
LOC130062084, SMCHD1 0 0 0 1 0 0 1
LRP5 0 1 0 0 0 0 1
LRP6 1 0 0 0 0 0 1
MADD, MYBPC3 1 0 0 0 0 0 1
MAPT 0 0 1 0 0 0 1
MED13L 0 0 0 1 0 0 1
MLH1 1 0 0 0 0 0 1
MORC2 0 0 1 0 0 0 1
MYO15A 0 0 1 0 0 0 1
MYO6 0 0 1 0 0 0 1
MYO7A 0 0 1 0 0 0 1
MYOT, PKD2L2-DT 0 0 1 0 0 0 1
NEBL 0 0 0 0 1 0 1
NONO 0 0 1 0 0 0 1
NOTCH1 0 0 1 0 0 0 1
PALB2 1 0 0 0 0 0 1
PHKA1 1 0 0 0 0 0 1
PLEKHG5 0 0 1 0 0 0 1
PLOD1 0 0 1 0 0 0 1
PLP1, RAB9B 0 1 0 0 0 0 1
PMP22 0 1 0 0 0 0 1
PNPLA2 0 0 1 0 0 0 1
POLG, POLGARF 0 0 1 0 0 0 1
POLR2F, SOX10 1 0 0 0 0 0 1
POMT2 0 0 1 0 0 0 1
PRDM16 0 0 1 0 0 0 1
PRKAG2 0 0 1 0 0 0 1
PRKCG 0 1 0 0 0 0 1
PTCH1 0 0 1 0 0 0 1
RECQL4 0 0 1 0 0 0 1
RORB 0 1 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 1
SACS 1 0 0 0 0 0 1
SCN1A 0 1 0 0 0 0 1
SCN5A 0 1 0 0 0 0 1
SELENON 0 1 0 0 0 0 1
SETD5 0 1 0 0 0 0 1
SGSH 1 0 0 0 0 0 1
SHANK2 0 1 0 0 0 0 1
SLC12A2 0 1 0 0 0 0 1
SLC9A6 0 1 0 0 0 0 1
SMPX 0 1 0 0 0 0 1
SNX14 0 1 0 0 0 0 1
SPAST 0 1 0 0 0 0 1
SPEN 0 1 0 0 0 0 1
SPG11 1 0 0 0 0 0 1
SPG7 0 0 1 0 0 0 1
SPTAN1 0 1 0 0 0 0 1
STK38 0 0 1 0 0 0 1
TCAP 1 0 0 0 0 0 1
TCF12 0 1 0 0 0 0 1
TET2 0 0 1 0 0 0 1
TG 0 1 0 0 0 0 1
TGIF1 0 1 0 0 0 0 1
TGM6 0 0 1 0 0 0 1
TMEM43 0 0 1 0 0 0 1
TNNC1 0 1 0 0 0 0 1
TNNT1 0 0 1 0 0 0 1
TNPO3 0 0 1 0 0 0 1
TRAPPC11 0 0 1 0 0 0 1
TRAPPC12 0 1 0 0 0 0 1
TRIM2 0 0 1 0 0 0 1
TRIM63 0 1 0 0 0 0 1
TRIO 0 0 1 0 0 0 1
TRPM4 0 0 1 0 0 0 1
TTC12 0 0 1 0 0 0 1
TUBA1A 0 1 0 0 0 0 1
VAC14 0 0 1 0 0 0 1
WDR62 0 0 1 0 0 0 1
XK 0 1 0 0 0 0 1
ZFYVE27 0 0 1 0 0 0 1
ZMYM2 0 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 168
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hypertrophic cardiomyopathy 2 0 0 1 7 7 40 55
Cardiomyopathy 1 12 13 0 0 0 26
Elevated circulating creatine kinase concentration 4 13 9 0 0 0 26
Peripheral neuropathy 0 6 18 0 0 0 24
Primary dilated cardiomyopathy 4 5 12 0 0 0 21
Myopathy 1 3 14 0 0 0 18
Low alkaline phosphatase 1 5 10 0 0 0 16
Scapulohumeral muscular dystrophy 1 5 6 0 0 0 12
Facioscapulohumeral muscular dystrophy 2 1 0 7 2 0 0 10
Hypertrophic cardiomyopathy 1 5 4 0 0 0 10
Intellectual disability 1 4 2 1 0 0 8
Muscle weakness 0 1 7 0 0 0 8
Muscular dystrophy 1 4 3 0 0 0 8
Polyneuropathy 1 0 7 0 0 0 8
Proximal muscle weakness 1 4 2 0 0 0 7
Spastic paraplegia 1 1 5 0 0 0 7
Neurodevelopmental abnormality 0 2 4 0 0 0 6
Breast carcinoma 1 1 3 0 0 0 5
Hypertrophic cardiomyopathy 26 0 0 5 0 0 0 5
Hypotonia 0 4 1 0 0 0 5
Angioedema 0 2 2 0 0 0 4
Autosomal recessive nonsyndromic hearing loss 84A 3 1 0 0 0 0 4
Cerebellar ataxia 0 2 2 0 0 0 4
Duchenne muscular dystrophy 3 1 0 0 0 0 4
Hypertrophic cardiomyopathy 1 1 1 2 0 0 0 4
Polycystic kidney disease 2 1 1 0 0 0 4
Abnormality of connective tissue 0 2 1 0 0 0 3
Cardiac arrhythmia 0 1 2 0 0 0 3
Coronal craniosynostosis 0 1 2 0 0 0 3
Dilated cardiomyopathy 1G 0 3 0 0 0 0 3
Global developmental delay 0 0 3 0 0 0 3
Limb-girdle muscular dystrophy 1 0 2 0 0 0 3
Malignant hyperthermia of anesthesia 0 1 2 0 0 0 3
Neurodegeneration 2 0 1 0 0 0 3
Pes cavus 0 0 3 0 0 0 3
Pulmonary arterial hypertension 0 2 1 0 0 0 3
Scapular winging 0 0 3 0 0 0 3
Spasticity 0 1 2 0 0 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 0 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 1 1 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2P 0 2 0 0 0 0 2
Becker muscular dystrophy 1 1 0 0 0 0 2
Bethlem myopathy 1A 0 1 1 0 0 0 2
Breast neoplasm 1 1 0 0 0 0 2
Cafe au lait spots, multiple 0 0 2 0 0 0 2
Central core myopathy 0 1 1 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2C 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2O 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2T 0 1 1 0 0 0 2
Charcot-Marie-Tooth disease type 2A1 0 0 2 0 0 0 2
Colon cancer 2 0 0 0 0 0 2
Congenital contracture 0 0 2 0 0 0 2
Congenital muscular dystrophy 1 1 0 0 0 0 2
Distal lower limb muscle weakness 0 2 0 0 0 0 2
Global developmental delay; Microcephaly 0 1 1 0 0 0 2
Hereditary nonpolyposis colorectal carcinoma 2 0 0 0 0 0 2
Hydrocephalus 0 2 0 0 0 0 2
Hypertrophic cardiomyopathy 4 2 0 0 0 0 0 2
Iron accumulation in brain 0 0 2 0 0 0 2
Left ventricular noncompaction cardiomyopathy 1 0 1 0 0 0 2
Neonatal seizure 0 2 0 0 0 0 2
Neoplasm 2 0 0 0 0 0 2
Ovarian neoplasm 1 0 1 0 0 0 2
Primary ciliary dyskinesia 7 0 0 2 0 0 0 2
Primary ciliary dyskinesia; Situs inversus 0 2 0 0 0 0 2
Prolonged QT interval 0 2 0 0 0 0 2
Restrictive cardiomyopathy 0 2 0 0 0 0 2
Seizure 0 1 1 0 0 0 2
Usher syndrome type 2A 0 0 2 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Absent radius 0 0 1 0 0 0 1
Aortic dissection 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 0 0 0 1
Atypical behavior 0 0 1 0 0 0 1
Autistic behavior; Neurodevelopmental delay 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 0 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 0 0 1 0 0 0 1
Basal cell carcinoma 0 0 1 0 0 0 1
Cardiomyopathy, dilated, 2E 0 0 1 0 0 0 1
Cardiomyopathy, familial hypertrophic 27 0 0 1 0 0 0 1
Cerebellar ataxia; Global developmental delay 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2Q 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate D 0 1 0 0 0 0 1
Christianson syndrome 0 1 0 0 0 0 1
Chudley-McCullough syndrome 0 1 0 0 0 0 1
Ciliary dyskinesia, primary, 38 0 1 0 0 0 0 1
Ciliary dyskinesia, primary, 45 0 0 1 0 0 0 1
Delayed speech and language development 0 1 0 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 1
Dilated cardiomyopathy 1CC 0 0 1 0 0 0 1
Dilated cardiomyopathy 1JJ 0 0 1 0 0 0 1
Dilated cardiomyopathy 1KK 0 0 1 0 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 0 0 1
Distal amyotrophy 0 0 1 0 0 0 1
Distal muscle weakness 0 1 0 0 0 0 1
Dystonic disorder 1 0 0 0 0 0 1
Eichsfeld type congenital muscular dystrophy 0 1 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 1 0 0 0 0 1
Epileptic encephalopathy 0 1 0 0 0 0 1
Global developmental delay; Heart, malformation of; Hearing impairment 0 1 0 0 0 0 1
Global developmental delay; Hypotonia 0 0 1 0 0 0 1
Glycogen storage disease IXd 1 0 0 0 0 0 1
Hand muscle atrophy 0 1 0 0 0 0 1
Hearing loss, X-linked 4 0 1 0 0 0 0 1
Hearing loss, autosomal dominant 37 0 0 1 0 0 0 1
Hearing loss, autosomal dominant 71 0 0 1 0 0 0 1
Hereditary episodic ataxia 0 0 1 0 0 0 1
Hereditary factor VIII deficiency disease 0 1 0 0 0 0 1
Hereditary spastic paraplegia 11 1 0 0 0 0 0 1
Hereditary spastic paraplegia 77 0 0 1 0 0 0 1
Hereditary spastic paraplegia 8 0 0 1 0 0 0 1
Highly elevated creatine kinase 1 0 0 0 0 0 1
Holoprosencephaly 4 0 1 0 0 0 0 1
Hypertrophic cardiomyopathy 6 0 0 1 0 0 0 1
Hypogonadism; Intellectual disability 0 1 0 0 0 0 1
Hypothyroidism 0 1 0 0 0 0 1
Immunodeficiency 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 33 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 56 0 1 0 0 0 0 1
Left ventricular noncompaction 0 1 0 0 0 0 1
Low serum calcitriol 0 0 1 0 0 0 1
Lower limb spasticity 0 1 0 0 0 0 1
Male pseudohermaphroditism 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 1 0 0 0 1
Mild global developmental delay 0 0 1 0 0 0 1
Multiple epiphyseal dysplasia 0 1 0 0 0 0 1
Multiple joint contractures 0 0 1 0 0 0 1
Muscular atrophy 1 0 0 0 0 0 1
Myelodysplastic syndrome 0 0 1 0 0 0 1
Myopathy, reducing body, X-linked, early-onset, severe 0 1 0 0 0 0 1
Neurofibroma 1 0 0 0 0 0 1
Neutropenia; Neurodevelopmental abnormality 0 1 0 0 0 0 1
Oligodontia 1 0 0 0 0 0 1
Parkinsonian disorder 0 0 1 0 0 0 1
Peripheral axonal neuropathy 0 0 1 0 0 0 1
Profound global developmental delay 0 1 0 0 0 0 1
Proximal muscle weakness in upper limbs 1 0 0 0 0 0 1
Proximal muscle weakness; Highly elevated creatine kinase 0 1 0 0 0 0 1
Radio-Tartaglia syndrome 0 1 0 0 0 0 1
Rectal neoplasm 0 1 0 0 0 0 1
Reduced factor IX activity 1 0 0 0 0 0 1
Renal insufficiency 0 1 0 0 0 0 1
Seizure; Neurodevelopmental abnormality 0 1 0 0 0 0 1
Sensory axonal neuropathy 0 1 0 0 0 0 1
Severe hydrocephalus 0 1 0 0 0 0 1
Short stature 0 1 0 0 0 0 1
Short stature; Abnormality of the vertebral column 0 0 1 0 0 0 1
Shoulder girdle muscle weakness 0 1 0 0 0 0 1
Shoulder subluxation 0 0 1 0 0 0 1
Spastic ataxia 0 1 0 0 0 0 1
Spinal neurofibroma 1 0 0 0 0 0 1
Syncope 0 0 1 0 0 0 1
Systemic autoinflammation 0 0 1 0 0 0 1
Thyroid cancer, nonmedullary, 2 1 0 0 0 0 0 1
Ullrich congenital muscular dystrophy 1A 0 1 0 0 0 0 1
Vitreoretinopathy 0 1 0 0 0 0 1
Waardenburg syndrome type 4C 1 0 0 0 0 0 1
Weakness of facial musculature 0 0 1 0 0 0 1
not provided 1 0 0 0 0 0 1
not specified 0 0 1 0 0 0 1

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