ClinVar Miner

Variants studied for Cryptorchidism; Joubert syndrome; Congenital cerebellar hypoplasia; High palate; Wide nasal bridge; Scrotal hypoplasia; Micropenis; Small anterior fontanelle; Microcephaly; Low-set, posteriorly rotated ears; Bilateral talipes equinovarus; Decreased body weight; Contracture of the proximal interphalangeal joint of the 5th finger; Congenital microcephaly; Nasogastric tube feeding in infancy; Cerebellar hemisphere hypoplasia; Camptodactyly of finger

Coded as:
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
1 0 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic total
CASK 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic total
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1

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