ClinVar Miner

Variants from Department of Human Genetics, Hannover Medical School

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
15 46 78 2 0 141

Gene and significance breakdown #

Total genes and gene combinations: 116
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PKD1 0 5 1 0 6
DNAH5 0 1 3 0 4
NLRP12 0 0 4 0 4
MEFV 1 0 2 0 3
RAD51D, RAD51L3-RFFL 1 0 2 0 3
TBCEL-TECTA, TECTA 0 0 3 0 3
ABCA3 0 1 1 0 2
ANKRD11 0 2 0 0 2
CEP290 0 0 2 0 2
DNAH11 0 2 0 0 2
EXT1 0 1 1 0 2
KANSL1 0 2 0 0 2
MLH1 2 0 0 0 2
PIK3R1 0 0 2 0 2
ACADM 0 1 0 0 1
ACVRL1 0 1 0 0 1
ADAT3, SCAMP4 0 0 1 0 1
ADNP 0 0 1 0 1
AP1G1 1 0 0 0 1
ARID1B 0 0 1 0 1
ARID1B, LOC115308161 0 0 1 0 1
ATAD3A 0 0 1 0 1
AUTS2 0 1 0 0 1
BARD1 0 0 1 0 1
BCL11A 0 0 1 0 1
BRCA1 1 0 0 0 1
BRCA2 0 0 0 1 1
BRIP1 0 0 1 0 1
C10orf67, LINC01552 1 0 0 0 1
CACNA1A 0 1 0 0 1
CCDC39 0 0 1 0 1
CDH23, PSAP 0 1 0 0 1
CFTR 0 0 1 0 1
CHD5 0 1 0 0 1
CHD7 0 1 0 0 1
CHD8 0 0 1 0 1
CIB2, SH2D7 0 1 0 0 1
CIC, PAFAH1B3 0 0 1 0 1
CIMIP2B, RUSC2 0 0 1 0 1
COL1A1 0 1 0 0 1
COL4A5 0 1 0 0 1
COPA 0 0 1 0 1
CPA1 0 0 1 0 1
CREBBP 0 0 1 0 1
DARS1 0 0 1 0 1
DARS2 1 0 0 0 1
DENND5A, TMEM41B 0 0 1 0 1
DLL3 0 1 0 0 1
DNAAF4, DNAAF4-CCPG1 1 0 0 0 1
DNAH11, LOC126859961 0 1 0 0 1
DNAI2 0 0 1 0 1
DNAJB2 0 0 1 0 1
DRC1 0 1 0 0 1
DYNC2H1 1 0 0 0 1
EIF2AK4 0 0 1 0 1
ELANE 0 0 1 0 1
EPHB6, TRPV6 0 0 1 0 1
FECH 0 1 0 0 1
HR 0 0 1 0 1
HUWE1 0 0 1 0 1
IL10RA 0 0 1 0 1
IL36RN 0 1 0 0 1
IL6ST 0 0 1 0 1
ILDR1 0 0 1 0 1
IRF7 0 0 1 0 1
IVD 0 1 0 0 1
KCNT1 0 0 1 0 1
KDM5B 0 0 1 0 1
KIT 0 0 1 0 1
KMT2E 0 1 0 0 1
LARP7 0 1 0 0 1
LMX1A 0 1 0 0 1
LOC125467768, PCDH19 1 0 0 0 1
LOC126862264, MEFV 1 0 0 0 1
LPIN2 0 0 1 0 1
MAGT1 0 1 0 0 1
MEA1, PPP2R5D 1 0 0 0 1
MED13 0 0 1 0 1
MED13L 0 0 1 0 1
MEN1 0 1 0 0 1
MSH2 1 0 0 0 1
MTM1 0 1 0 0 1
MTTP 0 1 0 0 1
MYH3 0 0 1 0 1
NALCN 0 0 1 0 1
NBEA 0 1 0 0 1
NIPBL 0 0 1 0 1
ODAD1 0 1 0 0 1
OTOG 0 1 0 0 1
PAX3 0 1 0 0 1
PEX1 0 0 1 0 1
PLCG2 0 0 1 0 1
PRSS12 0 0 1 0 1
PTPRQ 0 0 1 0 1
RARS1 0 1 0 0 1
RET 0 0 0 1 1
RSPH4A 0 0 1 0 1
RYR1 0 0 1 0 1
SCN1A 0 0 1 0 1
SHANK2 0 0 1 0 1
SI 0 1 0 0 1
SPG7 0 0 1 0 1
SPTBN1 0 1 0 0 1
STING1 1 0 0 0 1
SYNE1 0 0 1 0 1
TJP2 0 0 1 0 1
TMPRSS3 0 0 1 0 1
TNFRSF13B 0 0 1 0 1
TP53 0 0 1 0 1
TPK1 0 1 0 0 1
TRIO 0 0 1 0 1
TTN 0 0 1 0 1
UMPS 0 0 1 0 1
USP7 0 0 1 0 1
VPS13B 0 1 0 0 1
ZNF148 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 109
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Polycystic kidney disease, adult type 0 5 1 0 6
Primary ciliary dyskinesia 3 0 1 3 0 4
Stuve-Wiedemann syndrome 2 0 0 4 0 4
Autosomal recessive nonsyndromic hearing loss 21 0 0 3 0 3
Familial Mediterranean fever, autosomal dominant 2 0 1 0 3
Familial cancer of breast 1 0 2 0 3
Familial cold autoinflammatory syndrome 2 0 0 3 0 3
Primary ciliary dyskinesia 7 0 3 0 0 3
Autoimmune interstitial lung disease-arthritis syndrome 0 0 2 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 1 2
Breast-ovarian cancer, familial, susceptibility to, 4 0 0 2 0 2
Coffin-Siris syndrome 1 0 0 2 0 2
Colorectal cancer, hereditary nonpolyposis, type 2 2 0 0 0 2
Dias-Logan syndrome; Intellectual disability, autosomal dominant 45 0 0 2 0 2
Exostoses, multiple, type 1 0 1 1 0 2
Hereditary pancreatitis 0 0 2 0 2
Interstitial lung disease due to ABCA3 deficiency 0 1 1 0 2
KBG syndrome 0 2 0 0 2
Koolen-de Vries syndrome 0 2 0 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 1 0 1
Abetalipoproteinaemia 0 1 0 0 1
Acrodermatitis continua suppurativa of Hallopeau 0 1 0 0 1
Agammaglobulinemia 7, autosomal recessive 0 0 1 0 1
Alopecia universalis congenita 0 0 1 0 1
Asphyxiating thoracic dystrophy 3 1 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 0 1
Autism, susceptibility to, 17 0 0 1 0 1
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 7 0 1 0 0 1
Autosomal recessive ataxia, Beauce type 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 18B 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 42 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 48 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 84A 0 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 0 0 1 1
CHARGE association 0 1 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 1 0 0 1
Cholestasis, progressive familial intrahepatic, 4 0 0 1 0 1
Cohen syndrome 0 1 0 0 1
Combined PSAP deficiency 0 1 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 1
Cyclical neutropenia 0 0 1 0 1
Cystic fibrosis 0 0 1 0 1
Developmental and epileptic encephalopathy, 14 0 0 1 0 1
Developmental and epileptic encephalopathy, 49 0 0 1 0 1
Developmental and epileptic encephalopathy, 9 1 0 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 1 0 0 1
Episodic ataxia type 2 0 1 0 0 1
Familial Mediterranean fever 0 0 1 0 1
Familial pulmonary capillary hemangiomatosis 0 0 1 0 1
Freeman-Sheldon syndrome 0 0 1 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 0 1 0 1
Hao-Fountain syndrome 0 0 1 0 1
Harel-Yoon syndrome 0 0 1 0 1
Hereditary spastic paraplegia 7 0 0 1 0 1
Hogue-Janssens syndrome 1 1 0 0 0 1
Hypomyelinating leukodystrophy 9 0 1 0 0 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 0 1 0 1
Immunodeficiency 39 0 0 1 0 1
Immunodeficiency, common variable, 2 0 0 1 0 1
Inflammatory bowel disease 28 0 0 1 0 1
Intellectual developmental disorder 61 0 0 1 0 1
Intellectual developmental disorder with autism and macrocephaly 0 0 1 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 1
Intellectual disability, autosomal recessive 1 0 0 1 0 1
Intellectual disability, autosomal recessive 65 0 0 1 0 1
Intellectual disability-strabismus syndrome 0 0 1 0 1
Isovaleryl-CoA dehydrogenase deficiency 0 1 0 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 0 0 0 1
Li-Fraumeni syndrome 1 0 0 1 0 1
Lynch syndrome 1 1 0 0 0 1
Majeed syndrome 0 0 1 0 1
Malignant hyperthermia, susceptibility to, 1 0 0 1 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 1 0 0 1
Menke-Hennekam syndrome 1 0 0 1 0 1
Microcephalic primordial dwarfism, Alazami type 0 1 0 0 1
Multiple endocrine neoplasia, type 1 0 1 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 0 1 0 1
O'Donnell-Luria-Rodan syndrome 0 1 0 0 1
Orotic aciduria 0 0 1 0 1
Osteogenesis imperfecta type I 0 1 0 0 1
Pancreatic agenesis 2 1 0 0 0 1
Parenti-mignot neurodevelopmental syndrome 0 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 1 0 1
Piebaldism 0 0 1 0 1
Primary ciliary dyskinesia 11 0 0 1 0 1
Primary ciliary dyskinesia 14 0 0 1 0 1
Primary ciliary dyskinesia 20 0 1 0 0 1
Primary ciliary dyskinesia 21 0 1 0 0 1
Primary ciliary dyskinesia 25 1 0 0 0 1
Primary ciliary dyskinesia 9 0 0 1 0 1
Protoporphyria, erythropoietic, 1 0 1 0 0 1
SHORT syndrome 0 0 1 0 1
STING-associated vasculopathy with onset in infancy 1 0 0 0 1
Severe X-linked myotubular myopathy 0 1 0 0 1
Severe myoclonic epilepsy in infancy 0 0 1 0 1
Spondylocostal dysostosis 1, autosomal recessive 0 1 0 0 1
Sucrase-isomaltase deficiency 0 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2; Hereditary hemorrhagic telangiectasia 0 1 0 0 1
Usmani-Riazuddin syndrome, autosomal recessive 1 0 0 0 1
Waardenburg syndrome type 1 0 1 0 0 1
X-linked Alport syndrome 0 1 0 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 0 1 0 0 1

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