ClinVar Miner

Variants from Medizinische Genetik Mainz, Limbach Genetics GmbH

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
139 152 288 0 0 579

Gene and significance breakdown #

Total genes and gene combinations: 337
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
PKD1 51 1 37 89
COL4A5 7 5 4 16
COL4A3, MFF-DT 2 11 2 15
COL4A4 4 7 2 13
PKD2 8 0 2 10
COL4A1 0 4 2 6
MYH9 1 1 4 6
TRIO 0 3 3 6
CFI 2 0 3 5
CIC 0 2 3 5
SLC5A2 3 0 2 5
ACTN4 0 1 3 4
HNF1B 0 2 2 4
INF2 0 3 1 4
RYR1 0 0 4 4
ATP6V1B1 1 1 1 3
CD46 1 0 2 3
CFH 0 2 1 3
CLCN5 0 3 0 3
DDHD2 1 0 2 3
IFT140, LOC105371046 0 3 0 3
RYR2 0 0 3 3
SCN2A 0 3 0 3
SLC12A3 0 1 2 3
SPTAN1 0 3 0 3
TSC2 1 0 2 3
UMOD 0 3 0 3
ABCC9 0 0 2 2
ACTC1, GJD2-DT 0 0 2 2
ADGRL1 0 0 2 2
AGO2 0 0 2 2
ANKRD11 1 1 0 2
ATP1A3 0 0 2 2
BBS10 2 0 0 2
BRCA1 1 0 1 2
CACNA1G 0 0 2 2
CHD8 0 1 1 2
CLCN3 0 0 2 2
COL5A1 0 0 2 2
FBN1 1 1 0 2
FGD1 0 1 1 2
FLNC 0 0 2 2
GANAB 0 1 1 2
GRIA3 0 0 2 2
GRIN2B 0 1 1 2
KCNJ16 0 2 0 2
LPL 1 1 0 2
MED13 0 0 2 2
MGAT2 0 1 1 2
MSH2 2 0 0 2
NEK9 0 2 0 2
NF1 1 0 1 2
NIPBL 0 0 2 2
NOTCH1 0 1 1 2
NPHP4 2 0 0 2
NSD2 0 1 1 2
PDZD7 0 0 2 2
PHEX 2 0 0 2
PKHD1 1 0 1 2
SMC3 0 2 0 2
SPG7 0 0 2 2
TAF1 0 0 2 2
TBC1D8B 0 1 1 2
TBX3 0 1 1 2
TCF20 1 1 0 2
TRPS1 2 0 0 2
TTN 0 2 0 2
USH2A 2 0 0 2
ABCB6 0 1 0 1
ABCG5 0 1 0 1
ACTB 0 0 1 1
ACTL6B 0 1 0 1
ADAMTS13 0 0 1 1
ADAMTS2 0 1 0 1
ADAR 0 1 0 1
ADGRV1 1 0 0 1
AFG3L2 0 0 1 1
AHDC1 0 1 0 1
ALG5 0 1 0 1
ALG9, LOC130006752 0 1 0 1
AMN 1 0 0 1
ANK3 0 0 1 1
ANOS1 0 1 0 1
APOE 0 0 1 1
ARX 1 0 0 1
ASAH1 0 1 0 1
ASIC4, SPEG 0 1 0 1
ASXL1 1 0 0 1
ASXL2 0 0 1 1
ASXL3 0 1 0 1
ATP1A1 0 0 1 1
ATP2A2 0 1 0 1
ATP2A2, LOC126861638 0 0 1 1
ATP2B3 0 0 1 1
AVPR2 1 0 0 1
BCOR 0 0 1 1
BICC1, LOC126860938 0 1 0 1
BICRA 0 0 1 1
BMP4 0 0 1 1
BRCA2 1 0 0 1
BRPF1 0 1 0 1
CACNA1C 0 1 0 1
CACNA1F 0 1 0 1
CASK 0 0 1 1
CBL 0 0 1 1
CC2D1A 0 0 1 1
CCDST, FLG 0 0 1 1
CCND2 0 0 1 1
CD2AP 0 1 0 1
CDH1 0 0 1 1
CDH11 0 0 1 1
CDK13 1 0 0 1
CEP290 1 0 0 1
CFB 0 1 0 1
CHD2 0 0 1 1
CHD3 0 0 1 1
CHD4 0 0 1 1
CHD7 0 0 1 1
CHEK2 0 0 1 1
CHM 1 0 0 1
CHRNB1 0 1 0 1
CLCN1, LOC123956257 0 1 0 1
CLDN16 0 0 1 1
CLDN19 0 1 0 1
CNOT1 0 1 0 1
COL11A2 0 0 1 1
COL12A1 0 0 1 1
COL1A2 1 0 0 1
COL6A1 0 1 0 1
COL6A3 0 0 1 1
COMP 0 0 1 1
CPAMD8 0 0 1 1
CR2 0 1 0 1
CREBBP 0 1 0 1
CTCF 0 0 1 1
CUL3 0 0 1 1
CYP11A1 1 0 0 1
CYP24A1 0 0 1 1
DICER1 0 1 0 1
DLL1 0 1 0 1
DLL4 0 1 0 1
DM1, LOC107075317, SIX5 0 0 1 1
DNAJB11 0 0 1 1
DNM1 0 0 1 1
DNM1L 0 0 1 1
DNMT3A 0 1 0 1
DYNC1H1 0 0 1 1
DYNC2H1 0 0 1 1
DYRK1A 0 0 1 1
ERF 0 1 0 1
EYA1 0 0 1 1
F12 1 0 0 1
FBXW11 0 0 1 1
FCSK 0 0 1 1
FGF14 1 0 0 1
FGFR2 0 0 1 1
FGFR3 0 0 1 1
FMR1 0 0 1 1
FOXJ1 0 1 0 1
FOXP1 1 0 0 1
GAB1 0 0 1 1
GABRB2 0 1 0 1
GATA3 0 1 0 1
GATA4 0 1 0 1
GATAD2B 0 1 0 1
GCK 1 0 0 1
GDF11 0 0 1 1
GFAP 0 0 1 1
GFER 0 0 1 1
GH-LCR, SCN4A 0 0 1 1
GLI2 0 1 0 1
GLI3 0 0 1 1
GNAI1 0 0 1 1
GPT2, LOC130058930 0 0 1 1
GREB1L, LOC101927521 0 1 0 1
HCN2 0 0 1 1
HDAC4 0 0 1 1
HDAC8 0 0 1 1
HK1 0 0 1 1
HMGA2 0 0 1 1
HNF1A 0 1 0 1
HNF1B, LOC126862549 0 0 1 1
IFT122 0 0 1 1
IFT140 0 1 0 1
IQCG, RPL35A 0 0 1 1
KCNA2 1 0 0 1
KCNA5 0 0 1 1
KCNB1 0 0 1 1
KCNH2 1 0 0 1
KCNJ1 0 1 0 1
KCNJ11 0 0 1 1
KCNQ1 1 0 0 1
KCNQ5 0 0 1 1
KDM3B 0 0 1 1
KDM5C 0 0 1 1
KDM6B, LOC121587574 0 0 1 1
KLHL15 0 0 1 1
KMT2A 0 0 1 1
KMT2B 1 0 0 1
KMT2C 0 1 0 1
KMT2D 1 0 0 1
KMT2E 1 0 0 1
LARS1 0 0 1 1
LCAT 0 0 1 1
LHCGR, STON1-GTF2A1L 0 0 1 1
LMNB2 0 0 1 1
LMX1B 0 1 0 1
LOC107548112, REN 0 0 1 1
LOC126806878, TBL1XR1 0 0 1 1
LOC126860802, ZMYND11 1 0 0 1
LOC129391064, MAN2B1 0 0 1 1
LOC129992813, PKD2 1 0 0 1
LOC129996828, RRAGD 0 1 0 1
LOC129998225, RP9 0 1 0 1
LOXHD1 0 1 0 1
LRP4 0 0 1 1
LRP5 0 0 1 1
LZTFL1 0 0 1 1
MAGED2 0 0 1 1
MAP2K1 0 0 1 1
MAP2K2 0 1 0 1
MAST3 0 0 1 1
MCCC2 0 0 1 1
MECP2 0 1 0 1
MED13L 0 1 0 1
MFSD8 0 0 1 1
MIB1 0 0 1 1
MIP 0 1 0 1
MLH1 0 0 1 1
MTOR 0 0 1 1
MYH11, NDE1 0 0 1 1
MYH7 0 0 1 1
MYO15A 0 0 1 1
MYO1E 0 0 1 1
MYO6 0 1 0 1
MYPN 0 0 1 1
MYRF 0 1 0 1
NAA15 0 0 1 1
NBEA 0 0 1 1
NEK8 0 0 1 1
NEXMIF 1 0 0 1
NFIB 1 0 0 1
NOTCH3 0 0 1 1
NOVA2 1 0 0 1
NPHP3, NPHP3-ACAD11 0 0 1 1
NPHS2 0 0 1 1
NPRL2 0 0 1 1
NR0B1 0 0 1 1
NR4A2 0 1 0 1
OBI1, POU4F1 0 0 1 1
OCRL 0 1 0 1
OTOA 0 0 1 1
OTUD5 0 0 1 1
PAK3 0 0 1 1
PAX2 0 0 1 1
PDE6B 0 1 0 1
PHEX, PTCHD1 1 0 0 1
PHKA1 0 0 1 1
PHOX2B 0 1 0 1
PIEZO1 0 0 1 1
PITX1 0 0 1 1
PLCE1 1 0 0 1
PLP1, RAB9B 0 0 1 1
PLS1 0 0 1 1
PMS2 0 0 1 1
POGZ 1 0 0 1
POU3F4 0 0 1 1
PRKAR1B 0 0 1 1
PROKR2 0 0 1 1
PROM1 0 1 0 1
PROS1 0 0 1 1
PRPS1 0 1 0 1
PTCH1 0 1 0 1
PTEN 0 1 0 1
QRICH1 0 0 1 1
RAD21 1 0 0 1
RET 0 0 1 1
RNF43 1 0 0 1
ROR2 0 0 1 1
RORA 0 0 1 1
RPGR 0 1 0 1
RPGRIP1L 0 0 1 1
RPL3L 0 0 1 1
RRM2B 0 1 0 1
RUSF1, SLC5A2 0 0 1 1
SALL1 0 0 1 1
SATB2 0 0 1 1
SCN1A 1 0 0 1
SCNN1B 1 0 0 1
SETBP1 0 0 1 1
SETD1B 0 0 1 1
SGPL1 0 0 1 1
SHH 1 0 0 1
SIX1 0 1 0 1
SLC12A1 0 0 1 1
SLC12A2 0 0 1 1
SLC12A6 0 0 1 1
SLC17A8 0 1 0 1
SLC1A3 0 0 1 1
SLC30A9 0 0 1 1
SLC34A1 0 1 0 1
SLC34A3 0 0 1 1
SLC3A1 0 1 0 1
SMAD6 0 0 1 1
SMARCB1 0 0 1 1
SMC1A 0 0 1 1
SMS 0 0 1 1
SON 1 0 0 1
SOS1 0 0 1 1
SOX5 0 1 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 1
SPTBN1 0 0 1 1
SPTBN2 0 0 1 1
STXBP1 0 1 0 1
SUPT16H 0 0 1 1
SYNE1 0 0 1 1
SYNE2 0 0 1 1
TAOK1 0 0 1 1
TBR1 0 0 1 1
TBX4 1 0 0 1
TCIRG1 0 0 1 1
TET3 0 1 0 1
TLK2 0 0 1 1
TMPRSS3 0 0 1 1
TNXB 0 0 1 1
TPM3 0 0 1 1
TRAF7 0 0 1 1
TRIP12 0 1 0 1
TRPC6 0 0 1 1
TRPM4 0 0 1 1
TTC8 1 0 0 1
UBE2A 0 1 0 1
WDFY3 0 1 0 1
WT1 0 0 1 1
YARS1 0 0 1 1
ZEB2 1 0 0 1
ZMYM2 0 0 1 1

Condition and significance breakdown #

Total conditions: 338
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Polycystic kidney disease, adult type 51 1 37 89
Autosomal dominant Alport syndrome 4 10 2 16
X-linked Alport syndrome 7 5 4 16
Autosomal recessive Alport syndrome 2 7 2 11
Polycystic kidney disease 2 9 0 2 11
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 4 2 6
Familial renal glucosuria 3 0 3 6
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 1 4 6
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 3 3 6
Atypical hemolytic-uremic syndrome with I factor anomaly 2 0 3 5
Intellectual disability, autosomal dominant 45 0 2 3 5
Renal cysts and diabetes syndrome 0 2 3 5
Focal segmental glomerulosclerosis 1 0 1 3 4
Focal segmental glomerulosclerosis 5 0 3 1 4
Retinitis pigmentosa 80 0 4 0 4
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 1 0 2 3
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 3 3
Central core myopathy 0 0 3 3
Dent disease type 1 0 3 0 3
Developmental and epileptic encephalopathy, 11 0 3 0 3
Developmental and epileptic encephalopathy, 5 0 3 0 3
Familial X-linked hypophosphatemic vitamin D refractory rickets 3 0 0 3
Familial hypokalemia-hypomagnesemia 0 1 2 3
Familial juvenile hyperuricemic nephropathy type 1 0 3 0 3
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 2 1 3
Hereditary spastic paraplegia 54 1 0 2 3
Renal tubular acidosis with progressive nerve deafness 1 1 1 3
Tuberous sclerosis 2 1 0 2 3
Aarskog syndrome 0 1 1 2
Arthrogryposis, Perthes disease, and upward gaze palsy; NEK9-related lethal skeletal dysplasia 0 2 0 2
Bardet-Biedl syndrome 10 2 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 1 2
Cornelia de Lange syndrome 1 0 0 2 2
Cornelia de Lange syndrome 3 0 2 0 2
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 1 0 2
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 2 2
Dilated cardiomyopathy 1G 0 2 0 2
Ehlers-Danlos syndrome, classic type, 1 0 0 2 2
Hearing loss, autosomal recessive 57 0 0 2 2
Hereditary spastic paraplegia 7 0 0 2 2
Hyperlipidemia, familial combined, LPL related 1 1 0 2
Hypertrophic cardiomyopathy 11 0 0 2 2
Hypertrophic cardiomyopathy 26 0 0 2 2
Hypokalemic tubulopathy and deafness 0 2 0 2
Intellectual developmental disorder 61 0 0 2 2
Intellectual developmental disorder with autism and macrocephaly 0 1 1 2
KBG syndrome 1 1 0 2
Keratosis follicularis 0 1 1 2
Lessel-Kreienkamp syndrome 0 0 2 2
Lynch syndrome 1 2 0 0 2
MGAT2-congenital disorder of glycosylation 0 1 1 2
Marfan syndrome 1 1 0 2
Nephronophthisis 4 2 0 0 2
Nephrotic syndrome, type 20 0 1 1 2
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 0 2 2
Neurofibromatosis, type 1 1 0 1 2
Polycystic kidney disease 3 with or without polycystic liver disease 0 1 1 2
Polycystic kidney disease 4 1 0 1 2
Rauch-Steindl syndrome 0 1 1 2
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 2 2
Syndromic X-linked intellectual disability 94 0 0 2 2
Trichorhinophalangeal dysplasia type I 2 0 0 2
Ulnar-mammary syndrome 0 1 1 2
Usher syndrome type 2A 2 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 0 1 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 0 1
ALG9 congenital disorder of glycosylation 0 1 0 1
Adams-Oliver syndrome 5 0 1 0 1
Adams-Oliver syndrome 6 0 1 0 1
Agenesis of the corpus callosum with peripheral neuropathy 0 0 1 1
Aicardi-Goutieres syndrome 6 0 1 0 1
Alexander disease 0 0 1 1
Anterior segment dysgenesis 8 0 0 1 1
Aortic aneurysm, familial thoracic 4 0 0 1 1
Aortic valve disease 1 0 0 1 1
Asphyxiating thoracic dystrophy 3 0 0 1 1
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0 0 1 1
Atrial fibrillation, familial, 7 0 0 1 1
Atrial septal defect 2 0 1 0 1
Autism, susceptibility to, 5 0 0 1 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 25 0 1 0 1
Autosomal recessive Robinow syndrome 0 0 1 1
Autosomal recessive hypophosphatemic bone disease 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 22 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 26 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 3 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 77 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 0 1 1
Autosomal recessive osteopetrosis 1 0 0 1 1
Baraitser-Winter syndrome 1 0 0 1 1
Bardet-Biedl syndrome 17 0 0 1 1
Bardet-Biedl syndrome 8 1 0 0 1
Bartter disease type 1 0 0 1 1
Bartter disease type 2 0 1 0 1
Bartter disease type 5 0 0 1 1
Beck-Fahrner syndrome 0 1 0 1
Bethlem myopathy 1A 0 1 0 1
Bethlem myopathy 2 0 0 1 1
Bohring-Opitz syndrome 1 0 0 1
Branchiootic syndrome 3 0 1 0 1
Branchiootorenal syndrome 1 0 0 1 1
Branchiootorenal syndrome 2 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 1
CBL-related disorder 0 0 1 1
CHARGE association 0 0 1 1
Camptodactyly-tall stature-scoliosis-hearing loss syndrome 0 0 1 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 0 1 1
Cardiac-urogenital syndrome 0 1 0 1
Cardiofaciocutaneous syndrome 3 0 0 1 1
Cardiofaciocutaneous syndrome 4 0 1 0 1
Cardiomyopathy, dilated, 2D 0 0 1 1
Cataract 15 multiple types 0 1 0 1
Cenani-Lenz syndactyly syndrome 0 0 1 1
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 1
Charcot-marie-tooth disease, axonal, type 2DD 0 0 1 1
Choroideremia 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 0 0 1 1
Ciliary dyskinesia, primary, 43 0 1 0 1
Clark-Baraitser syndrome 0 1 0 1
Clubfoot 0 0 1 1
Coffin-Siris syndrome 12 0 0 1 1
Colorectal cancer, hereditary nonpolyposis, type 2 0 0 1 1
Complement factor b deficiency 0 1 0 1
Congenital adrenal hypoplasia, X-linked 0 0 1 1
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 0 0 1
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 0 1 1
Congenital disorder of glycosylation with defective fucosylation 2 0 0 1 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 1
Congenital myasthenic syndrome 2A 0 1 0 1
Congenital myopathy 4A, autosomal dominant 0 0 1 1
Congenital myotonia, autosomal dominant form 0 1 0 1
Congenital stationary night blindness autosomal dominant 2 0 1 0 1
Cornelia de Lange syndrome 4 1 0 0 1
Cornelia de Lange syndrome 5 0 0 1 1
Cowden syndrome 1 0 1 0 1
Coxopodopatellar syndrome 1 0 0 1
Cranioectodermal dysplasia 1 0 0 1 1
Craniosynostosis 4 0 1 0 1
Craniosynostosis 7; Radioulnar synostosis, nonsyndromic, susceptibility to 0 0 1 1
Cystinuria 0 1 0 1
DYRK1A-related intellectual disability syndrome 0 0 1 1
Deficiency of alpha-mannosidase 0 0 1 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0 0 1 1
Delpire-McNeill syndrome 0 0 1 1
Dent disease type 2 0 1 0 1
Developmental and epileptic encephalopathy 108 0 0 1 1
Developmental and epileptic encephalopathy 94 0 0 1 1
Developmental and epileptic encephalopathy 99 0 0 1 1
Developmental and epileptic encephalopathy, 26 0 0 1 1
Developmental and epileptic encephalopathy, 31 0 0 1 1
Developmental and epileptic encephalopathy, 32 1 0 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 1 1
Developmental delay, impaired speech, and behavioral abnormalities 0 0 1 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 1
Diamond-Blackfan anemia 5 0 0 1 1
Diets-Jongmans syndrome 0 0 1 1
Dilated cardiomyopathy 1KK 0 0 1 1
Dilated cardiomyopathy 1O; Atrial fibrillation, familial, 12 0 0 1 1
Dilated cardiomyopathy 1S 0 0 1 1
Dyschromatosis universalis hereditaria 3 0 1 0 1
Dystonia 12 0 0 1 1
Dystonia 28, childhood-onset 1 0 0 1
Ehlers-Danlos syndrome, dermatosparaxis type 0 1 0 1
Elsahy-Waters syndrome 0 0 1 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 1 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 0 1 1
Epilepsy, familial focal, with variable foci 2 0 0 1 1
Epilepsy, idiopathic generalized, susceptibility to, 17 0 0 1 1
Epileptic encephalopathy, infantile or early childhood, 2 0 1 0 1
Episodic ataxia type 6 0 0 1 1
Euthyroid goiter; Pleuropulmonary blastoma 0 1 0 1
FG syndrome 4 0 0 1 1
Factor XII deficiency disease 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 0 1 1
Familial type 3 hyperlipoproteinemia 0 0 1 1
Farber lipogranulomatosis 0 1 0 1
Focal segmental glomerulosclerosis 2 0 0 1 1
Focal segmental glomerulosclerosis 3, susceptibility to 0 1 0 1
Focal segmental glomerulosclerosis 6 0 0 1 1
Fragile X syndrome 0 0 1 1
Glutamate pyruvate transaminase 2 deficiency 0 0 1 1
Glycogen storage disease IXd 0 0 1 1
Greig cephalopolysyndactyly syndrome 0 0 1 1
Hearing loss, X-linked 1 0 1 0 1
Hearing loss, autosomal dominant 76 0 0 1 1
Hereditary diffuse gastric adenocarcinoma 0 0 1 1
Heyn-Sproul-Jackson syndrome 0 1 0 1
Hirschsprung disease, susceptibility to, 1 0 0 1 1
Holoprosencephaly 12 with or without pancreatic agenesis; Vissers-Bodmer syndrome 0 1 0 1
Holoprosencephaly 3 1 0 0 1
Holoprosencephaly 7 0 1 0 1
Hypercalcemia, infantile, 1 0 0 1 1
Hypertrichotic osteochondrodysplasia Cantu type 0 0 1 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 1 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 1
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy 0 1 0 1
Hypoparathyroidism, deafness, renal disease syndrome 0 1 0 1
Hypophosphatemic nephrolithiasis/osteoporosis 1 0 1 0 1
Ichthyosis vulgaris 0 0 1 1
Imerslund-Grasbeck syndrome type 2 1 0 0 1
Immunodeficiency, common variable, 7 0 1 0 1
Infantile liver failure syndrome 1 0 0 1 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 1
Intellectual developmental disorder with seizures and language delay 0 0 1 1
Intellectual developmental disorder with severe speech and ambulation defects 0 1 0 1
Intellectual disability, X-linked 103 0 0 1 1
Intellectual disability, X-linked 30 0 0 1 1
Intellectual disability, X-linked, syndromic 33 0 0 1 1
Intellectual disability, autosomal dominant 15 0 0 1 1
Intellectual disability, autosomal dominant 30 1 0 0 1
Intellectual disability, autosomal dominant 41 0 0 1 1
Intellectual disability, autosomal dominant 46 0 0 1 1
Intellectual disability, autosomal dominant 50 0 0 1 1
Intellectual disability, autosomal dominant 57 0 0 1 1
Intellectual disability, autosomal dominant 6 0 1 0 1
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 0 1 1
Intellectual disability, autosomal recessive 3 0 0 1 1
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 0 0 1 1
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 0 1 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 1
Kabuki syndrome 1 1 0 0 1
Kleefstra syndrome 2 0 1 0 1
LADD syndrome 1 0 0 1 1
Lamb-Shaffer syndrome 0 1 0 1
Left ventricular noncompaction 7 0 0 1 1
Leydig cell agenesis 0 0 1 1
Li-Fraumeni syndrome 2 0 0 1 1
Long QT syndrome 1 1 0 0 1
Long QT syndrome 2 1 0 0 1
Lynch syndrome 4 0 0 1 1
Macrocephaly, acquired, with impaired intellectual development 1 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 1
Macular dystrophy with central cone involvement 0 0 1 1
Malignant hyperthermia, susceptibility to, 1 0 0 1 1
Marbach-Schaaf neurodevelopmental syndrome 0 0 1 1
Maturity-onset diabetes of the young type 13 0 0 1 1
Maturity-onset diabetes of the young type 2 1 0 0 1
Maturity-onset diabetes of the young type 3 0 1 0 1
Meckel syndrome, type 5 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 0 1 1
Microcephaly 18, primary, autosomal dominant 0 1 0 1
Microcephaly 27, primary, autosomal dominant 0 0 1 1
Microphthalmia with brain and digit anomalies 0 0 1 1
Mitochondrial DNA depletion syndrome 8a 0 1 0 1
Mowat-Wilson syndrome 1 0 0 1
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 0 1 1
Multiple epiphyseal dysplasia type 1 0 0 1 1
Myopathy, centronuclear, 5 0 1 0 1
Nail-patella-like renal disease 0 1 0 1
Nephronophthisis 3 0 0 1 1
Nephrotic syndrome 14 0 0 1 1
Nephrotic syndrome, type 2 0 0 1 1
Nephrotic syndrome, type 3 1 0 0 1
Nephrotic syndrome, type 4 0 0 1 1
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 1 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 1 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 0 1 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 1 0 1
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 1 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 1 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 0 1 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 1 1
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 0 1 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 0 0 1 1
Noonan syndrome 4 0 0 1 1
Norum disease 0 0 1 1
O'Donnell-Luria-Rodan syndrome 1 0 0 1
Oculofaciocardiodental syndrome 0 0 1 1
Osteogenesis imperfecta type III 1 0 0 1
Paramyotonia congenita of Von Eulenburg 0 0 1 1
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 0 0 1 1
Polycystic kidney disease 6 with or without polycystic liver disease 0 0 1 1
Polycystic kidney disease 7 0 1 0 1
Polycystic liver disease 4 with or without kidney cysts 0 0 1 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 0 1
Primary hypomagnesemia 0 0 1 1
Progressive familial heart block type IB 0 0 1 1
Pseudohypoaldosteronism type 2E 0 0 1 1
Pseudohypoaldosteronism, type IB2, autosomal recessive 1 0 0 1
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 0 0 1 1
Renal coloboma syndrome 0 0 1 1
Renal dysplasia, cystic, susceptibility to 0 1 0 1
Renal hypodysplasia/aplasia 3 0 1 0 1
Renal hypomagnesemia 5 with ocular involvement 0 1 0 1
Renal-hepatic-pancreatic dysplasia 2 0 0 1 1
Retinitis pigmentosa 3 0 1 0 1
Retinitis pigmentosa 41 0 1 0 1
Retinitis pigmentosa 9 0 1 0 1
Rett syndrome 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 1
Schinzel-Giedion syndrome 0 0 1 1
Senior-Loken syndrome 6 1 0 0 1
Sessile serrated polyposis cancer syndrome 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 1
Severe myoclonic epilepsy in infancy 1 0 0 1
Shashi-Pena syndrome 0 0 1 1
Sifrim-Hitz-Weiss syndrome 0 0 1 1
Silver-Russell syndrome 5 0 0 1 1
Sitosterolemia 2 0 1 0 1
Snijders Blok-Campeau syndrome 0 0 1 1
Spinocerebellar ataxia 27A 1 0 0 1
Spinocerebellar ataxia type 28 0 0 1 1
Spinocerebellar ataxia type 5 0 0 1 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 0 1 1
Syndromic X-linked intellectual disability Nascimento type 0 1 0 1
Syndromic X-linked intellectual disability Snyder type 0 0 1 1
Teebi hypertelorism syndrome 1 0 0 1 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 0 1 1
Timothy syndrome 0 1 0 1
Townes-Brocks syndrome 1 0 0 1 1
Ullrich congenital muscular dystrophy 1A 0 0 1 1
Upshaw-Schulman syndrome 0 0 1 1
Usher syndrome type 2C 1 0 0 1
Vertebral hypersegmentation and orofacial anomalies 0 0 1 1
Ververi-Brady syndrome 0 0 1 1
Vesicoureteral reflux 8 0 0 1 1
Wiedemann-Steiner syndrome 0 0 1 1
X-linked cone-rod dystrophy 3 0 1 0 1
X-linked dystonia-parkinsonism; Intellectual disability, X-linked, syndromic 33 0 0 1 1
X-linked intellectual disability, Cantagrel type 1 0 0 1
X-linked lissencephaly with abnormal genitalia 1 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 0 1 1
X-linked progressive cerebellar ataxia 0 0 1 1
ZTTK syndrome 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.