ClinVar Miner

Variants from Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux

Location: France — Primary collection method: clinical testing
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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
5 0 0 0 0 5

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic total
ABCB6, ANKZF1, ASIC4, ATG9A, CHPF, CNPPD1, DES, DNAJB2, DNPEP, GLB1L, GMPPA, INHA, NHEJ1, OBSL1, PTPRN, RESP18, RETREG2, SLC23A3, SLC4A3, SPEG, STK11IP, STK16, TMEM198, TUBA4A, ZFAND2B 1 1
ALDH18A1 1 1
CACNA1A 1 1
CHN1 1 1
IL2RB 1 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic total
Cutis laxa-corneal clouding-oligophrenia syndrome 1 1
Duane syndrome type 2 1 1
Episodic ataxia type 2; Gait ataxia; Epileptic encephalopathy 1 1
Ichthyosis 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 1 1

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