ClinVar Miner

Variants from Reproductive Endocrine Unit, Massachusetts General Hospital

Location: United States  Primary collection method: research
Minimum submission review status: Collection method:
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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
57 48 72 9 0 186

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
FGFR1 53 34 55 1 143
ARHGAP35 0 9 5 3 17
SOX11 3 2 6 5 16
ARHGAP5 0 1 1 0 2
KLB 0 0 2 0 2
RAB3GAP2 0 2 0 0 2
ANOS1 1 0 0 0 1
IGSF10 0 0 1 0 1
SEMA3A 0 0 1 0 1
TUBB3 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Hypogonadotropic hypogonadism 2 with or without anosmia 53 34 55 1 143
Martsolf syndrome 1 1 10 12 3 26
Hypogonadotropic hypogonadism 3 2 6 5 16
Martsolf syndrome 0 2 0 0 2

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