ClinVar Miner

Variants from Institute of Human Genetics, University of Ulm

Location: Germany  Primary collection method: research
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
20 14 3 0 3 40

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
BRF1 4 0 0 0 4
EDAR, RANBP2 2 0 0 0 2
LAMB3 0 2 0 0 2
LTBP3 2 0 0 0 2
NSUN2 2 0 0 0 2
SACS 0 2 0 0 2
ARMC3 0 0 1 0 1
BNC2 0 0 0 1 1
CABP2 0 1 0 0 1
CCN6 1 0 0 0 1
CHCHD2 0 0 0 1 1
CNNM4 1 0 0 0 1
CREBBP 0 0 1 0 1
DYM 1 0 0 0 1
FERMT1 0 1 0 0 1
HCFC1 0 1 0 0 1
HYCC1 0 1 0 0 1
KAT8 0 1 0 0 1
LAMC2 0 1 0 0 1
LOC130006030, LTBP3 1 0 0 0 1
MLPH 1 0 0 0 1
MN1 0 1 0 0 1
MPV17 0 0 1 0 1
PRX 1 0 0 0 1
PSPH 0 0 0 1 1
RANBP3-DT, RFX2 0 1 0 0 1
SLC13A3 0 1 0 0 1
SLC24A4 1 0 0 0 1
SLC9A6 0 1 0 0 1
TANGO2 1 0 0 0 1
UBA2 1 0 0 0 1
WNT10A 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance benign total
Cerebellar-facial-dental syndrome 4 0 0 0 4
Amelogenesis imperfecta 0 0 0 3 3
Brachyolmia-amelogenesis imperfecta syndrome 3 0 0 0 3
Charlevoix-Saguenay spastic ataxia 0 2 0 0 2
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 2 0 0 0 2
Intellectual disability, autosomal recessive 5 2 0 0 0 2
Junctional epidermolysis bullosa, non-Herlitz type 0 2 0 0 2
ACCES syndrome 1 0 0 0 1
Amelogenesis imperfecta hypomaturation type 2A5 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 93 0 1 0 0 1
CEBALID syndrome 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 1
Charcot-Marie-Tooth disease type 4F 1 0 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 0 0 1 0 1
Christianson syndrome 0 1 0 0 1
Dyggve-Melchior-Clausen syndrome 1 0 0 0 1
Epidermolysis bullosa, junctional 3A, intermediate 0 1 0 0 1
Griscelli syndrome type 3 1 0 0 0 1
Hypomyelination and Congenital Cataract 0 1 0 0 1
Jalili syndrome 1 0 0 0 1
Kindler syndrome 0 1 0 0 1
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 0 1 0 0 1
Li-Ghorbani-Weisz-Hubshman syndrome 0 1 0 0 1
Methylmalonic acidemia with homocystinuria, type cblX 0 1 0 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 1 0 1
Stuttering, familial persistent, 4 0 0 1 0 1
Tooth agenesis 0 1 0 0 1
Tooth agenesis, selective, 4 1 0 0 0 1

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