ClinVar Miner

Variants from Dr. med. U. Finckh, Human Genetics, Eurofins MVZ

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
26 55 93 20 0 192

Gene and significance breakdown #

Total genes and gene combinations: 147
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
NF1 2 3 1 1 7
BRCA2 1 1 3 0 5
CLCN1 0 4 1 0 5
ANKRD11 1 2 1 0 4
ARID1B 0 0 1 2 3
DYNC1H1 0 1 1 1 3
MSH6 0 1 2 0 3
ATM 1 1 0 0 2
BRCA1, LOC126862571 1 1 0 0 2
BRIP1 1 1 0 0 2
CACNA1A 1 1 0 0 2
CACNA1C 0 0 2 0 2
CEP63 0 0 2 0 2
CHD2 0 1 1 0 2
COL11A1 0 0 2 0 2
DMD 0 0 2 0 2
EP300 0 0 1 1 2
GRIN2B 0 1 1 0 2
IGF1R 0 0 2 0 2
KAT6B 1 0 1 0 2
KIF5A 0 1 0 1 2
MYBPC3 0 2 0 0 2
NSD1 0 0 1 1 2
PALB2 0 1 1 0 2
PMS1 0 0 2 0 2
RAD51C 0 1 1 0 2
SCN5A 0 0 2 0 2
SPAST 1 1 0 0 2
SYNE1 0 2 0 0 2
ABCA12 1 0 0 0 1
ABCA12, SNHG31 0 1 0 0 1
ALDH18A1 0 0 1 0 1
ALG8 0 1 0 0 1
ANK1 0 1 0 0 1
ANK2 0 0 1 0 1
ANK2, LOC126807136 0 0 1 0 1
AP4M1 1 0 0 0 1
APOB 0 0 1 0 1
ARID1A 0 0 1 0 1
BARD1 1 0 0 0 1
BICD2 0 0 1 0 1
BLM 0 1 0 0 1
BRCA1 0 1 0 0 1
CACNA1D 0 0 1 0 1
CASK 0 0 0 1 1
CASQ2 0 1 0 0 1
CDH1 1 0 0 1 1
CFTR 0 0 1 0 1
CHD7 0 1 0 0 1
CHEK2 0 0 1 0 1
CNNM2, LOC130004628 0 0 1 0 1
CNNM4 1 0 0 0 1
COL12A1 0 0 1 0 1
COL1A2 0 1 0 0 1
COL3A1 0 0 1 0 1
COL4A5 1 0 0 0 1
COL5A1 0 1 0 0 1
COMP 0 1 0 0 1
CRYM 0 0 1 0 1
CTNNA3 0 0 1 0 1
DEPDC5 0 1 0 0 1
DIS3L2 0 1 0 0 1
DYNC2I1 0 0 1 0 1
EIF4G1 0 0 1 0 1
ELN 0 0 1 0 1
EYS, PHF3 0 1 0 0 1
FANCC 0 1 0 0 1
FAS 0 0 1 0 1
FAT2, SLC36A1 0 0 0 1 1
FBN1 0 1 0 0 1
FECH 1 0 0 0 1
FGFR1 0 0 1 0 1
FLNB 0 1 0 0 1
FLNC 0 1 0 0 1
GH-LCR, SCN4A 0 0 1 0 1
GJA8 0 1 0 0 1
GLI2 0 0 0 1 1
GRIA3 0 0 0 1 1
HDAC4 0 0 1 0 1
HNRNPU 0 0 0 1 1
IL1RAPL1 0 0 1 0 1
IQCB1 1 0 0 0 1
JAG1 0 0 1 0 1
KAT6A 0 0 1 0 1
KBTBD13 0 0 1 0 1
KCNC1 0 0 1 0 1
KCNMA1 0 0 1 0 1
KCNQ2 0 0 1 0 1
KMT2D 0 0 0 1 1
KMT2D, LOC126861520 1 0 0 0 1
LHCGR, STON1-GTF2A1L 0 0 1 0 1
LOC102724058, SCN1A 0 0 1 0 1
LOC123493235, TLL1 0 0 1 0 1
LOC129995449, SQSTM1 0 0 1 0 1
LRRK2 0 0 1 0 1
MED13L 0 0 1 0 1
MEIS2 0 0 1 0 1
MFAP5 0 1 0 0 1
MLH1 1 0 0 0 1
MPZ 0 0 1 0 1
MSH2 1 0 0 0 1
MSH3 0 1 0 0 1
NFIX 0 0 1 0 1
NIPBL 0 0 0 1 1
NLRP12 0 0 1 0 1
NOTCH2 0 0 1 0 1
PAX2 0 0 1 0 1
PDE8B 0 1 0 0 1
PHF8 0 0 1 0 1
PHKB 0 0 1 0 1
PKD1 1 0 0 0 1
PKP2 0 0 1 0 1
POGZ 0 0 0 1 1
POLE 0 1 1 0 1
PRDM16 0 0 1 0 1
PRSS12 0 0 1 0 1
PTEN 1 0 0 0 1
RAD51D 0 0 1 0 1
RECQL 0 1 0 0 1
RELN 0 0 1 0 1
RNF213 0 0 0 1 1
RUBCN 0 0 1 0 1
RYR1 0 0 1 0 1
SCN4A 0 0 1 0 1
SDHA 0 0 1 0 1
SETX 0 0 1 0 1
SLC26A5 0 1 0 0 1
SLC40A1 1 0 0 0 1
SMAD3 0 0 1 0 1
SMARCA2 0 0 0 1 1
SPTAN1 0 0 0 1 1
STXBP1 1 0 0 0 1
SYNGAP1 0 0 0 1 1
TBCEL-TECTA, TECTA 0 0 1 0 1
TCF4 1 0 0 0 1
TDRD7 0 1 0 0 1
TGFB2 0 0 1 0 1
TNFRSF1A 0 1 0 0 1
TNXB 0 0 1 0 1
TRPV4 0 1 0 0 1
TSC2 0 0 1 0 1
TYR 0 1 0 0 1
USH2A 0 0 1 0 1
USP9X 0 0 1 0 1
WASHC5 0 0 1 0 1
WDR62 0 0 1 0 1
ZBTB18 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 147
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Neurofibromatosis, type 1 2 3 0 1 6
Breast-ovarian cancer, familial, susceptibility to, 2 1 1 3 0 5
Congenital myotonia, autosomal recessive form 0 4 1 0 5
Familial cancer of breast 2 1 1 0 4
KBG syndrome 1 2 1 0 4
Breast-ovarian cancer, familial, susceptibility to, 1 1 2 0 0 3
Coffin-Siris syndrome 1 0 0 1 2 3
Intellectual disability, autosomal dominant 13 0 1 1 1 3
Lynch syndrome 5 0 1 2 0 3
not provided 0 1 2 0 3
Autosomal recessive ataxia, Beauce type 0 2 0 0 2
Autosomal recessive congenital ichthyosis 4A 1 1 0 0 2
Becker muscular dystrophy 0 0 2 0 2
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 5 0 1 1 0 2
Brugada syndrome 1 0 0 2 0 2
Cardiac arrhythmia, ankyrin-B-related 0 0 2 0 2
Developmental and epileptic encephalopathy 94 0 1 1 0 2
Growth delay due to insulin-like growth factor I resistance 0 0 2 0 2
Hereditary spastic paraplegia 10 0 1 0 1 2
Hereditary spastic paraplegia 4 1 1 0 0 2
Hypertrophic cardiomyopathy 4 0 2 0 0 2
Intellectual disability, autosomal dominant 6 0 1 1 0 2
Kabuki syndrome 1 1 0 0 1 2
Seckel syndrome 6 0 0 2 0 2
Sotos syndrome 0 0 1 1 2
Spinocerebellar ataxia 45 0 0 0 2 2
Alagille syndrome due to a JAG1 point mutation 0 0 1 0 1
Alagille syndrome due to a NOTCH2 point mutation 0 0 1 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 0 1
Amyotrophic lateral sclerosis type 4 0 0 1 0 1
Aneurysm-osteoarthritis syndrome 0 0 1 0 1
Aortic aneurysm, familial thoracic 9 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 13 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 1
Atrial septal defect 6 0 0 1 0 1
Autoimmune lymphoproliferative syndrome type 1 0 0 1 0 1
Autosomal dominant Parkinson disease 8 0 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 40 0 0 1 0 1
Autosomal dominant striatal neurodegeneration type 1 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 61 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 15 0 0 1 0 1
Bethlem myopathy 2 0 0 1 0 1
Bloom syndrome 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 0 0 1 0 1
Brugada syndrome 3; Long qt syndrome 8 0 0 1 0 1
CHARGE association 0 1 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 0 1 0 1
Cataract 1 multiple types 0 1 0 0 1
Cataract 36 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 1 0 0 1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D 0 0 1 0 1
Colorectal cancer, hereditary nonpolyposis, type 2 1 0 0 0 1
Colorectal cancer, susceptibility to, 12 0 0 1 0 1
Cornelia de Lange syndrome 1 0 0 0 1 1
Cutis laxa, autosomal dominant 1 0 0 1 0 1
Cystic fibrosis 0 0 1 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 1
Developmental and epileptic encephalopathy, 5 0 0 0 1 1
Developmental and epileptic encephalopathy, 54 0 0 0 1 1
Developmental and epileptic encephalopathy, 7 0 0 1 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 0 0 1 0 1
Ehlers-Danlos syndrome, cardiac valvular type 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 1 0 1 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 0 1
Episodic ataxia type 2 1 0 0 0 1
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 1 0 0 1
Familial adenomatous polyposis 4 0 1 0 0 1
Familial cancer of breast; Ataxia-telangiectasia syndrome 0 1 0 0 1
Familial cold autoinflammatory syndrome 2 0 0 1 0 1
Familial ovarian cancer 1 0 0 0 1
Familial temporal lobe epilepsy 7 0 0 1 0 1
Fanconi anemia complementation group C 0 1 0 0 1
Focal segmental glomerulosclerosis 7 0 0 1 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Myopathy, distal, with rimmed vacuoles 0 0 1 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 0 1 0 1
Glycogen storage disease IXb 0 0 1 0 1
Hearing loss, autosomal dominant 37 0 0 1 0 1
Hemochromatosis type 4 1 0 0 0 1
Hereditary diffuse gastric adenocarcinoma 1 0 0 0 1
Hereditary spastic paraplegia 50 1 0 0 0 1
Hereditary spastic paraplegia 8 0 0 1 0 1
Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B 0 0 1 0 1
Hereditary spherocytosis type 1 0 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 0 0 1 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 0 1 0 1
Hypokalemic periodic paralysis, type 2 0 0 1 0 1
Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis 0 0 1 0 1
Hypomagnesemia, seizures, and intellectual disability 1 0 0 1 0 1
Intellectual disability, X-linked 21 0 0 1 0 1
Intellectual disability, X-linked 99 0 0 1 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 1
Intellectual disability, autosomal dominant 22 0 1 0 0 1
Intellectual disability, autosomal dominant 5 0 0 0 1 1
Intellectual disability, autosomal recessive 1 0 0 1 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 0 0 1 1
Jalili syndrome 1 0 0 0 1
Left ventricular noncompaction 8 0 0 1 0 1
Leydig cell agenesis 0 0 1 0 1
Loeys-Dietz syndrome 4 0 0 1 0 1
Lynch syndrome 1; Muir-Torré syndrome 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 0 1 0 1
Marfan syndrome 0 1 0 0 1
Marshall-Smith syndrome; Malan overgrowth syndrome 0 0 1 0 1
Menke-Hennekam syndrome 2 0 0 0 1 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 0 1 0 1
Migraine, familial hemiplegic, 1 0 1 0 0 1
Moyamoya disease 2 0 0 0 1 1
Myofibrillar myopathy 5 0 1 0 0 1
Nemaline myopathy 6 0 0 1 0 1
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 1 0 1
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome 0 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C 0 1 0 0 1
Nicolaides-Baraitser syndrome 0 0 0 1 1
PTEN hamartoma tumor syndrome 1 0 0 0 1
Paragangliomas 5 0 0 1 0 1
Parkinson disease 18, autosomal dominant, susceptibility to 0 0 1 0 1
Perlman syndrome 0 1 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 1
Polycystic kidney disease, adult type 1 0 0 0 1
Polycystic liver disease 3 with or without kidney cysts 0 1 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 0 0 1 1
Progressive myoclonic epilepsy type 7 0 0 1 0 1
Protoporphyria, erythropoietic, 1 1 0 0 0 1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 0 1 0 0 1
Retinitis pigmentosa 25 0 1 0 0 1
Retinitis pigmentosa 39 0 0 1 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 1 0 1
Senior-Loken syndrome 5 1 0 0 0 1
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 0 1 0 1
Short-rib thoracic dysplasia 8 with or without polydactyly 0 0 1 0 1
Spondylocarpotarsal synostosis syndrome 0 1 0 0 1
Stickler syndrome type 2 0 0 1 0 1
Syndromic X-linked intellectual disability 94 0 0 0 1 1
Syndromic X-linked intellectual disability Najm type 0 0 0 1 1
Syndromic X-linked intellectual disability Siderius type 0 0 1 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 0 1 0 0 1
Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 1 0 1
Tuberous sclerosis 2 0 0 1 0 1
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B 0 1 0 0 1
X-linked Alport syndrome 1 0 0 0 1

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