ClinVar Miner

Variants from Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Location: Germany  Primary collection method: not provided
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
239 138 156 0 0 533

Gene and significance breakdown #

Total genes and gene combinations: 386
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GLI3 14 1 0 15
PGAP3 9 0 0 9
TTN 0 2 4 6
NHLRC2 1 1 3 5
POLR3B 1 3 1 5
CREBBP 1 2 1 4
DDX3X 3 1 0 4
PTPN11 1 3 0 4
ANKRD11 3 0 0 3
ARID1B 1 2 0 3
ATM, C11orf65 2 1 0 3
BRCA2 3 0 0 3
COL1A1 3 0 0 3
DYNC1H1 1 2 0 3
GALNS 1 1 1 3
HNRNPK 3 0 0 3
HUWE1 1 0 2 3
ITPR3 0 1 2 3
KYNU 3 0 0 3
LDLR 0 3 0 3
LOC130004775, NHLRC2 1 1 1 3
MAN2C1 1 0 2 3
NSD1 2 1 0 3
PTEN 2 0 1 3
SETD5 0 3 0 3
SGMS1 3 0 0 3
ACADS 0 2 0 2
AGK 2 0 0 2
ATL1 0 1 1 2
ATP7A 1 0 1 2
ATRIP, ATRIP-TREX1, TREX1 1 1 0 2
AUTS2 1 0 1 2
CACNA1S 1 0 1 2
CAPN3 0 2 0 2
CARD11 0 2 0 2
CELSR1 0 0 2 2
CHD7 1 1 0 2
CLASP1, RNU4ATAC 2 0 0 2
CLTC 2 0 0 2
CNGA3 1 0 1 2
CNKSR2 1 0 1 2
COL11A2 1 0 1 2
COL2A1 1 0 1 2
DHPS 0 0 2 2
DNAAF11 0 0 2 2
DNMT3A 1 0 1 2
DOK7 1 1 0 2
DSP 1 1 0 2
EFTUD2 1 0 1 2
ERCC6 1 1 0 2
FLAD1 0 2 0 2
GBA2 0 0 2 2
GNE 0 2 0 2
HECTD4 0 0 2 2
HK1 2 0 0 2
IFIH1 0 1 1 2
IGHMBP2 0 2 0 2
KCNT1 0 1 1 2
KMT2D 2 0 0 2
KMT2E 1 1 0 2
LARP7, MIR302CHG 2 0 0 2
LARS1 0 0 2 2
LOC126861615, PAH 1 0 1 2
LZTR1 1 1 0 2
MAST1 0 1 1 2
MYBPC3 1 0 1 2
MYH7 1 1 0 2
MYO5B 1 1 0 2
NPC1 1 1 0 2
PEX13 1 0 1 2
PI4KA 0 2 0 2
PIGT 2 0 0 2
PLS3 2 0 0 2
PMM2 2 0 0 2
PPA2 1 1 0 2
PREP 2 0 0 2
RNASEH2B 2 0 0 2
RYR1 1 0 1 2
SCN2A 1 0 1 2
SLC12A5 1 1 0 2
SLC34A3 2 0 0 2
SMARCAL1 0 0 2 2
SPG11 1 1 0 2
SPG7 2 0 0 2
SURF1 2 0 0 2
TERT 0 0 2 2
TRPM6 1 1 0 2
TUSC3 2 0 0 2
USP9X 0 0 2 2
VPS13B 2 0 0 2
VWF 2 0 0 2
ZFHX4 0 2 0 2
ZNF335 0 0 2 2
​intergenic 0 1 0 1
ABCA2 1 0 0 1
ABCB4 0 0 1 1
ABCC6 1 0 0 1
ABCC9 1 0 0 1
ABCF3 0 0 1 1
ACE 1 0 0 1
ACO1 0 0 1 1
ACOX1 1 0 0 1
ACTB 1 0 0 1
ACTC1, GJD2-DT 0 0 1 1
ACTN2 0 0 1 1
ADA2 1 0 0 1
ADAMTS15 0 1 0 1
ADCY3 0 0 1 1
AHI1 0 1 0 1
AIFM1, RAB33A 0 0 1 1
ALDH6A1, BBOF1 0 0 1 1
ANKRD11, LOC128462377 0 0 1 1
ANKS1B 0 0 1 1
AP4M1 0 0 1 1
ARID5B 0 0 1 1
ARNT2 0 0 1 1
ARSA 1 0 0 1
ASS1 0 0 1 1
ATM 0 1 0 1
ATP2B1 0 1 0 1
ATP6AP1 0 1 0 1
ATP6V1A 0 1 0 1
ATP9A 1 0 0 1
ATRX 0 0 1 1
BAZ2B 0 0 1 1
BBS12, LOC129993043 0 1 0 1
BCS1L 1 0 0 1
BICD2 0 0 1 1
BRAT1 1 0 0 1
BRCA2, LOC106721785 0 1 0 1
BRD4 1 0 0 1
BRIP1 0 1 0 1
BTK 0 0 1 1
C1orf122, YRDC 0 1 0 1
CA2 0 1 0 1
CACNA1A, LOC130063717 0 0 1 1
CACNA1G 0 0 1 1
CACNA2D2, LOC127898564 0 1 0 1
CAPRIN1 1 0 0 1
CASK 1 0 0 1
CBL 0 0 1 1
CCDC22 0 0 1 1
CCNH, RASA1 1 0 0 1
CD40LG 1 0 0 1
CDC42 0 0 1 1
CDH2 1 0 0 1
CERT1 0 1 0 1
CFTR, LOC111674472 0 0 1 1
CHD1 0 0 1 1
CHD2 1 0 0 1
CHD3 0 1 0 1
CHD8 1 0 0 1
CHEK2 1 0 0 1
COA6 0 0 1 1
COG1, LOC126862634 1 0 0 1
COL17A1 1 0 0 1
COL1A2 1 0 0 1
COL3A1 1 0 0 1
COL4A1 0 1 0 1
COL6A2 1 0 0 1
CRLF1 1 0 0 1
CSNK2A1 1 0 0 1
CTNNB1 1 0 0 1
CYBB 0 1 0 1
DCDC2 1 0 0 1
DCLRE1C, MEIG1 1 0 0 1
DCX 1 0 0 1
DHX30 0 0 1 1
DICER1 1 0 0 1
DLG3 0 0 1 1
DLL1 1 0 0 1
DNAAF1 1 0 0 1
DNAAF19 1 0 0 1
DNAI1 0 1 0 1
DOT1L 0 0 1 1
DYNC1H1, LOC126862060 0 0 1 1
DYRK1A 1 0 0 1
EBF3 0 1 0 1
ECEL1 1 0 0 1
EGR2 0 0 1 1
EMD 1 0 0 1
EP300 0 1 0 1
ERCC6L2 1 0 0 1
FA2H 0 0 1 1
FANCA 0 1 0 1
FANCA, ZNF276 1 0 0 1
FANCD2, FANCD2OS 0 0 1 1
FANCD2, LOC107303338 0 0 1 1
FBN1 0 0 1 1
FBXL4 1 0 0 1
FBXO11 0 1 0 1
FDX2, FDX2-ZGLP1, LOC130063486 0 0 1 1
FENDRR, FOXF1 1 0 0 1
FGFR1 1 0 0 1
FGFR3 0 1 0 1
FLII 0 0 1 1
FLNB 0 0 1 1
FLNC 0 0 1 1
FOXC2 1 0 0 1
FRMPD4 0 0 1 1
FTL 1 0 0 1
FZD4, PRSS23 1 0 0 1
GDF11 0 0 1 1
GJB1 1 0 0 1
GJB3 0 0 1 1
GLMN 0 1 0 1
GLUL 0 0 1 1
GNAI1 0 1 0 1
GNAO1 0 1 0 1
GNAS 1 0 0 1
GNB2 0 1 0 1
GP1BA 0 1 0 1
GRIN1 0 1 0 1
GYG1 1 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 1
HPS1 1 0 0 1
HSALR1, PIEZO1 0 0 1 1
HSD17B4, LOC129994460 0 0 1 1
IDH1 1 0 0 1
IFITM5, PGGHG 1 0 0 1
IQSEC2 0 0 1 1
IRF2BPL 0 1 0 1
ITGA8 1 0 0 1
JAGN1 1 0 0 1
KANSL1 1 0 0 1
KCNA2 0 0 1 1
KCNB1 0 0 1 1
KCNC2 0 0 1 1
KCNH2 0 1 0 1
KCNJ2 0 1 0 1
KDM3B 0 1 0 1
KDM5C 1 0 0 1
KIF5A 0 1 0 1
KLHL15, LOC114022706 0 0 1 1
KMT2B 1 0 0 1
KMT2D, LOC126861520 1 0 0 1
KMT5B 0 1 0 1
KPTN 1 0 0 1
KSR2 0 0 1 1
KYNU, LOC126806361, LOC129934866 1 0 0 1
LIG4 0 1 0 1
LMNA 1 0 0 1
LOC102724058, SCN1A 0 0 1 1
LOC107303340, VHL 0 1 0 1
LOC114827850, MYL2 0 0 1 1
LOC125467768, PCDH19 0 0 1 1
LOC126806878, TBL1XR1 0 1 0 1
LOC126860802, ZMYND11 1 0 0 1
LOC130000832, SPAG1 1 0 0 1
LRSAM1 0 0 1 1
MAPKAPK5 1 0 0 1
MCCC2 0 1 0 1
MED12 0 0 1 1
MED13L 1 0 0 1
MEIS2 0 1 0 1
MHRT, MYH7 0 0 1 1
MPV17 0 1 0 1
MPZ 0 0 1 1
MRPL42 1 0 0 1
MSL3 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 1
MT-CYB 0 0 1 1
MT-ND1 1 0 0 1
MT-ND3 1 0 0 1
MT-ND4 1 0 0 1
MT-ND5 1 0 0 1
MT-TL1 1 0 0 1
MTOR 0 1 0 1
MYCBP2 0 0 1 1
MYRF 1 0 0 1
NALCN 1 0 0 1
NAXE 0 0 1 1
NBEA 0 1 0 1
NCAPG2 0 0 1 1
NCDN 0 1 0 1
NECAP1 0 0 1 1
NF1 1 0 0 1
NLRC4 0 1 0 1
NOTCH2 1 0 0 1
NOTCH3 0 1 0 1
NR2F1 0 1 0 1
NRAS 0 0 1 1
NSD2 0 0 1 1
NSRP1 0 1 0 1
OFD1, TRAPPC2 0 0 1 1
PADI6 0 1 0 1
PAH 1 0 0 1
PAK3 0 1 0 1
PAX3 0 0 1 1
PCDH19 0 1 0 1
PDE10A 1 0 0 1
PDHA1 0 0 1 1
PEX1 0 0 1 1
PEX26 1 0 0 1
PHIP 0 0 1 1
PHKA1 0 0 1 1
PIEZO1 0 0 1 1
PIEZO2 0 0 1 1
PIK3R2 0 0 1 1
PITX2 1 0 0 1
PKP2 0 1 0 1
PLA2G6 0 0 1 1
PLCB4 0 1 0 1
PMS2 1 0 0 1
POLA1 0 0 1 1
POLR1A 0 0 1 1
PORCN 0 0 1 1
POT1 1 0 0 1
PPP1R13L 0 1 0 1
PRKACB 0 0 1 1
PSME4 0 0 1 1
PTPRA, VPS16 1 0 0 1
PUM1 0 0 1 1
RAB3GAP1 1 0 0 1
RARB 0 0 1 1
RNU4-1, RNU4-2, SIRT4 1 0 0 1
RSPH1 0 1 0 1
RSPRY1 1 0 0 1
RUNX1 1 0 0 1
SALL4 0 1 0 1
SAMD9 0 1 0 1
SATB1 0 1 0 1
SATB2 1 0 0 1
SCN1A 0 0 1 1
SCN3A 0 0 1 1
SCN8A 0 1 0 1
SDHA 0 0 1 1
SERPINC1 0 1 0 1
SETBP1 1 0 0 1
SETD1A 0 0 1 1
SHANK3 1 0 0 1
SHOC2 1 0 0 1
SLC11A2 0 0 1 1
SLC12A6 0 0 1 1
SLC25A26 0 0 1 1
SLC25A36 0 0 1 1
SLC26A4 1 0 0 1
SLC2A1 0 0 1 1
SLC31A1 0 1 0 1
SLC35A2 0 0 1 1
SMAD4 1 0 0 1
SMARCA2 1 0 0 1
SOCS1 0 1 0 1
SOS1 1 0 0 1
SPAG1 1 0 0 1
SPEN 1 0 0 1
SPTA1 0 1 0 1
SRCAP 1 0 0 1
STK11 0 0 1 1
STXBP1 1 0 0 1
SUCLG1 0 0 1 1
SUZ12 1 0 0 1
TAF1 0 1 0 1
TBK1 1 0 0 1
TBL1XR1 1 0 0 1
TBX2 0 0 1 1
TCEAL1 0 0 1 1
TCF4 0 1 0 1
TCOF1 0 1 0 1
TCTN1 0 0 1 1
THSD1 1 0 0 1
TMEM237 1 0 0 1
TMEM240 1 0 0 1
TMEM63B 0 1 0 1
TMEM70 1 0 0 1
TP53 0 1 0 1
TRAPPC4 0 1 0 1
TRDN 1 0 0 1
TRIO 0 1 0 1
TRPM3 0 1 0 1
TSPAN12 1 0 0 1
TTR 0 1 0 1
TUBA1A 1 0 0 1
TUBB2B 0 1 0 1
TUBB4B 1 0 0 1
UBQLN4 1 0 0 1
UNG 1 0 0 1
VANGL1 0 0 1 1
VCP 0 1 0 1
VIPAS39 1 0 0 1
WDFY3 0 0 1 1
ZBTB20 0 1 0 1
ZMYND11 1 0 0 1
ZNF148 0 0 1 1
ZNF292 0 1 0 1
ZNF462 1 0 0 1

Condition and significance breakdown #

Total conditions: 271
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Condition pathogenic likely pathogenic uncertain significance total
not provided 34 31 48 113
not specified 18 9 7 34
Hyperphosphatasia with intellectual disability syndrome 4 9 0 0 9
Polydactyly, postaxial, type A1 8 1 0 9
Fibrosis, neurodegeneration, and cerebral angiomatosis 2 2 4 8
Au-Kline syndrome 3 1 1 5
Greig cephalopolysyndactyly syndrome 5 0 0 5
Postmenopausal osteoporosis 5 0 0 5
Autism spectrum disorder due to AUTS2 deficiency 2 0 2 4
Catel-Manzke syndrome 4 0 0 4
Intellectual disability, X-linked 102 2 1 1 4
Coffin-Siris syndrome 1 1 2 0 3
Congenital disorder of deglycosylation 2 1 0 2 3
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 2 1 3
Intellectual disability, X-linked 99 0 0 3 3
Intellectual disability, autosomal dominant 13 0 2 1 3
Intellectual disability, autosomal dominant 30 2 1 0 3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 3 0 3
KBG syndrome 3 0 0 3
Kabuki syndrome 1 3 0 0 3
Phenylketonuria 2 0 1 3
Aicardi-Goutieres syndrome 7 0 1 1 2
Arthrogryposis, distal, with impaired proprioception and touch 0 0 2 2
Ataxia-telangiectasia syndrome 1 1 0 2
Autosomal recessive distal spinal muscular atrophy 1 0 2 0 2
Autosomal recessive hypophosphatemic bone disease 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 2 2
Cockayne syndrome type 2 1 1 0 2
Cohen syndrome 2 0 0 2
Complex cortical dysplasia with other brain malformations 7 0 1 1 2
Congenital microvillous atrophy 1 1 0 2
Congenital myasthenic syndrome 10 1 1 0 2
Cowden syndrome 1 1 1 0 2
Developmental and epileptic encephalopathy, 34 1 1 0 2
Dyskeratosis congenita, autosomal dominant 2 0 0 2 2
Fanconi anemia complementation group A 1 1 0 2
Fanconi anemia complementation group D1 1 1 0 2
Fanconi anemia complementation group D2 0 0 2 2
GNE myopathy 0 2 0 2
Generalized epilepsy with febrile seizures plus, type 2 0 0 2 2
Hereditary spastic paraplegia 11 1 1 0 2
Hereditary spastic paraplegia 50 1 0 1 2
Hereditary spastic paraplegia 7 2 0 0 2
Hypokalemic periodic paralysis, type 1 0 0 2 2
Intellectual disability, X-linked syndromic, Turner type 1 0 1 2
Intellectual disability, autosomal dominant 56 2 0 0 2
Intellectual disability, autosomal recessive 7 2 0 0 2
Intestinal hypomagnesemia 1 1 1 0 2
Koolen-de Vries syndrome 2 0 0 2
Lymphatic malformation 6 0 0 2 2
Lymphatic malformation 9 0 0 2 2
Macrocephaly-autism syndrome 1 0 1 2
Mandibulofacial dysostosis-microcephaly syndrome 1 0 1 2
Menke-Hennekam syndrome 1 0 1 1 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 2 2
Microcephalic primordial dwarfism, Alazami type 2 0 0 2
Mitochondrial complex IV deficiency, nuclear type 1 2 0 0 2
Myopathy with abnormal lipid metabolism 0 2 0 2
Noonan syndrome 1 1 1 0 2
Noonan syndrome 2 1 1 0 2
O'Donnell-Luria-Rodan syndrome 1 1 0 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant 1 0 1 2
PMM2-congenital disorder of glycosylation 2 0 0 2
Paroxysmal nocturnal hemoglobinuria 2 2 0 0 2
Peroxisome biogenesis disorder 11B 1 0 1 2
Pierpont syndrome; Intellectual disability, autosomal dominant 41 1 1 0 2
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 2 0 2
Primary ciliary dyskinesia 19 0 0 2 2
Rubinstein-Taybi syndrome due to CREBBP mutations 1 1 0 2
Seizures, benign familial infantile, 3 1 0 1 2
Sengers syndrome 2 0 0 2
Sotos syndrome 1 1 0 2
Sudden cardiac failure, infantile 1 1 0 2
Syndromic X-linked intellectual disability Najm type 1 1 0 2
Vertebral anomalies and variable endocrine and T-cell dysfunction 1 0 1 2
Achromatopsia 2 1 0 0 1
Acyl-CoA oxidase deficiency 1 0 0 1
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 1 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa 1 0 0 1
Arthrogryposis, renal dysfunction, and cholestasis 2 1 0 0 1
Auriculocondylar syndrome 2 0 1 0 1
Autism; Seizure 0 0 1 1
Autoinflammatory syndrome with immunodeficiency 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 4 1 0 0 1
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 1 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 0 0 1 1
Baraitser-Winter syndrome 1 1 0 0 1
Bardet-Biedl syndrome 12 0 1 0 1
Basilicata-Akhtar syndrome 1 0 0 1
Bernard-Soulier syndrome, type A2, autosomal dominant 0 1 0 1
Bifunctional peroxisomal enzyme deficiency 0 0 1 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 1
CBL-related disorder 0 0 1 1
CHARGE syndrome 0 1 0 1
CHD7-related CHARGE syndrome 1 0 0 1
COG1 congenital disorder of glycosylation 1 0 0 1
Capillary malformation-arteriovenous malformation 1 1 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 1
Cardiac-urogenital syndrome 1 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 0 0 1 1
Catecholaminergic polymorphic ventricular tachycardia 5 1 0 0 1
Cerebellar atrophy with seizures and variable developmental delay 0 1 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 1
Charcot-Marie-Tooth disease type 1D 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1J 0 0 1 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 1
Citrullinemia type I 0 0 1 1
Cold-induced sweating syndrome 1 1 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 1 0 0 1
Congenital brain dysgenesis due to glutamine synthetase deficiency 0 0 1 1
Cystic fibrosis 0 0 1 1
DNA ligase IV deficiency 0 1 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 1
Deficiency of butyryl-CoA dehydrogenase 0 1 0 1
Developmental and epileptic encephalopathy 93 0 1 0 1
Developmental and epileptic encephalopathy, 13 0 1 0 1
Developmental and epileptic encephalopathy, 14 0 1 0 1
Developmental and epileptic encephalopathy, 26 0 0 1 1
Developmental and epileptic encephalopathy, 32 0 0 1 1
Developmental and epileptic encephalopathy, 4 1 0 0 1
Developmental and epileptic encephalopathy, 9 0 1 0 1
Diets-Jongmans syndrome 0 1 0 1
Dilated cardiomyopathy 1A 1 0 0 1
Dilated cardiomyopathy 1G 0 1 0 1
Distal arthrogryposis type 5D 1 0 0 1
Distal myopathy with posterior leg and anterior hand involvement 0 0 1 1
Distichiasis-lymphedema syndrome 1 0 0 1
Duane-radial ray syndrome 0 1 0 1
Dystonia 28, childhood-onset 1 0 0 1
Dystonia 30 1 0 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 1
Emery-Dreifuss muscular dystrophy 1, X-linked 1 0 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 0 1 1
Epidermolysis bullosa, junctional 4, intermediate 1 0 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 1
Erythrokeratodermia variabilis et progressiva 1 0 0 1 1
Exudative vitreoretinopathy 1 1 0 0 1
Exudative vitreoretinopathy 5 1 0 0 1
Familial cancer of breast 1 0 0 1
Familial cold autoinflammatory syndrome 4 0 1 0 1
Focal dermal hypoplasia 0 0 1 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 1 0 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 0 1 1
Global developmental delay; Seizure; Polymicrogyria; Penile hypospadias; Very long chain fatty acid accumulation 0 0 1 1
Glycogen storage disease IXd 0 0 1 1
Glycogen storage disease XV 1 0 0 1
Granulomatous disease, chronic, X-linked 0 1 0 1
Greig cephalopolysyndactyly syndrome; Polydactyly, postaxial, type A1 1 0 0 1
Hajdu-Cheney syndrome 1 0 0 1
Hemolytic anemia due to hexokinase deficiency 1 0 0 1
Hereditary antithrombin deficiency 0 1 0 1
Hereditary hyperferritinemia with congenital cataracts 1 0 0 1
Hereditary spastic paraplegia 10 0 1 0 1
Hereditary spastic paraplegia 35 0 0 1 1
Hereditary spastic paraplegia 3A 0 1 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1 0 0 1
Hyper-IgM syndrome type 5 1 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 1
Hypochondroplasia 0 1 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 1
Immunodeficiency 11b with atopic dermatitis 0 1 0 1
Immunodeficiency 47 0 1 0 1
Infantile liver failure syndrome 1 0 0 1 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 1 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 1
Intellectual disability, X-linked 1 0 0 1 1
Intellectual disability, X-linked 104 0 0 1 1
Intellectual disability, X-linked 30 0 1 0 1
Intellectual disability, X-linked 90 0 0 1 1
Intellectual disability, X-linked, syndromic 33 0 1 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 0 1 1
Intellectual disability, autosomal dominant 29 1 0 0 1
Intellectual disability, autosomal dominant 34 0 1 0 1
Intellectual disability, autosomal dominant 51 0 1 0 1
Joubert syndrome 13 0 0 1 1
Joubert syndrome 3 0 1 0 1
Juvenile myoclonic epilepsy 1 0 0 1
Kartagener syndrome 0 1 0 1
Leber optic atrophy 0 0 1 1
Left ventricular noncompaction 10 1 0 0 1
Leigh syndrome 1 0 0 1
Li-Fraumeni syndrome 1 0 1 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 1
MIRAGE syndrome 0 1 0 1
Macrocephaly-developmental delay syndrome 1 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 0 1 1
Malignant hyperthermia, susceptibility to, 5 1 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 1
Menke-Hennekam syndrome 2 0 1 0 1
Menkes kinky-hair syndrome 1 0 0 1
Metachondromatosis 0 1 0 1
Metachromatic leukodystrophy, adult type 1 0 0 1
Methylmalonate semialdehyde dehydrogenase deficiency 0 0 1 1
Microcytic anemia with liver iron overload 0 0 1 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 1
Microphthalmia, syndromic 12 0 0 1 1
Migraine, familial hemiplegic, 1 0 0 1 1
Mitochondrial DNA depletion syndrome 13 1 0 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 1 0 1
Mitochondrial DNA depletion syndrome 9 0 0 1 1
Mitochondrial complex III deficiency nuclear type 1 1 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 1 0 0 1
Myhre syndrome 1 0 0 1
Myosin storage myopathy 0 0 1 1
Nephronophthisis 19 1 0 0 1
Neurocardiofaciodigital syndrome 1 0 0 1
Neurodegeneration with ataxia and late-onset optic atrophy 0 0 1 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0 1 0 1
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked 0 0 1 1
Neurodevelopmental disorder with hypotonia and dysmorphic facies 0 1 0 1
Neurodevelopmental disorder with infantile epileptic spasms 0 1 0 1
Neurodevelopmental disorder with involuntary movements 0 1 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 0 1
Neurodevelopmental disorder with severe motor impairment and absent language 0 0 1 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 1
Neurofibromatosis, type 1 1 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 1
Noonan syndrome 4 1 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 1
Osteopetrosis with renal tubular acidosis 0 1 0 1
Pancytopenia-developmental delay syndrome 1 0 0 1
Pectus excavatum; Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 1
Peroxisome biogenesis disorder 7A (Zellweger) 1 0 0 1
Phelan-McDermid syndrome 1 0 0 1
Primary ciliary dyskinesia 13 1 0 0 1
Primary ciliary dyskinesia 24 0 1 0 1
Primary dilated cardiomyopathy; Cerebellar ataxia; Intellectual disability; Polyneuropathy; Spastic paraparesis 0 0 1 1
Primary dilated cardiomyopathy; Intellectual disability; Polyneuropathy; Spastic paraparesis 0 0 1 1
Primrose syndrome 0 1 0 1
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 1 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 1
Radio-Tartaglia syndrome 1 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 0 1 1
Renal hypodysplasia/aplasia 1 1 0 0 1
Renal tubular dysgenesis of genetic origin 1 0 0 1
Sensorineural hearing loss disorder; Global developmental delay; Generalized-onset seizure; Normochromic microcytic anemia 0 0 1 1
Severe combined immunodeficiency due to CARD11 deficiency 0 1 0 1
Severe combined immunodeficiency due to DCLRE1C deficiency 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 1
Snijders Blok-Campeau syndrome 0 1 0 1
Spinocerebellar ataxia type 21 1 0 0 1
Spinocerebellar ataxia type 42 0 0 1 1
Spondyloepiphyseal dysplasia tarda, X-linked 0 0 1 1
Spondyloepiphyseal dysplasia with metatarsal shortening 1 0 0 1
Spondyloepiphyseal dysplasia, Stanescu type 0 0 1 1
Striatal degeneration, autosomal dominant 2 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 1
Treacher Collins syndrome 1 0 1 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 1
Vertebral hypersegmentation and orofacial anomalies 0 0 1 1
Warburg micro syndrome 1 1 0 0 1
Webb-Dattani syndrome 0 0 1 1
X-linked agammaglobulinemia 0 0 1 1
von Willebrand disease type 1 1 0 0 1

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