ClinVar Miner

Variants from Hehr Laboratory,Center for Human Genetics - University of Regensburg

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
2 14 6 0 0 22

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
EDAR, RANBP2 1 2 0 3
FMO3 0 2 0 2
BRWD3 0 0 1 1
CCM2 0 1 0 1
CREBBP 0 0 1 1
FKRP 0 1 0 1
FLNA 0 1 0 1
GPC3 0 1 0 1
HESX1 0 0 1 1
KRIT1 0 1 0 1
L1CAM 0 0 1 1
LARGE1 0 1 0 1
MCPH1 0 1 0 1
PDCD10 0 1 0 1
PTCH1 0 1 0 1
REEP1 1 0 0 1
TUBA8 0 0 1 1
TUBB3 0 0 1 1
ZIC2 0 1 0 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance total
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type 1 1 0 2
Trimethylaminuria 0 2 0 2
Autosomal dominant hypohidrotic ectodermal dysplasia 0 1 0 1
Cerebral cavernous malformation 0 1 0 1
Cerebral cavernous malformations 2 0 1 0 1
Cerebral cavernous malformations 3 0 1 0 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 0 1 0 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 0 1 0 1
Cortical dysplasia, complex, with other brain malformations 1 0 0 1 1
Gorlin syndrome 0 1 0 1
Holoprosencephaly 5 0 1 0 1
Mental retardation, X-linked 93 0 0 1 1
Periventricular nodular heterotopia 1 0 1 0 1
Polymicrogyria with optic nerve hypoplasia 0 0 1 1
Primary autosomal recessive microcephaly 1 0 1 0 1
Rubinstein-Taybi syndrome 1 0 0 1 1
Septo-optic dysplasia sequence 0 0 1 1
Simpson-Golabi-Behmel syndrome 0 1 0 1
Spastic paraplegia 31, autosomal dominant 1 0 0 1
X-linked hydrocephalus syndrome 0 0 1 1

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