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Results: 11

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
HESX1Growth hormone deficiency with pituitary anomaliesPathogenic/Likely pathogenic
(May 20, 2011)
classified by single submitter357198405
2.
HESX1Septo-optic dysplasia sequencePathogenic/Likely pathogenic
(May 20, 2011)
classified by single submitter
3.
HESX1Septo-optic dysplasia sequencePathogenic/Likely pathogenic
(May 20, 2011)
classified by single submitter
4.
HESX1Growth hormone deficiency with pituitary anomaliesGO-ESP:0.00008(C)Pathogenic/Likely pathogenic
(May 20, 2011)
classified by single submitter357198214
5.
HESX1Septooptic dysplasia, mildGO-ESP:0.00008(A)Pathogenic/Likely pathogenic
(May 20, 2011)
classified by single submitter357198246
6.
HESX1Pituitary hormone deficiency, combined, 5Pathogenic/Likely pathogenic
(May 13, 2014)
classified by single submitter357199901
7.
HESX1Pituitary hormone deficiency, combined, 5Pathogenic/Likely pathogenic
(May 13, 2014)
classified by single submitter357198751
8.
HESX1Pituitary hormone deficiency, combined, 5Pathogenic/Likely pathogenic
(May 13, 2014)
classified by single submitter357199842
9.
HESX1Septo-optic dysplasia sequencePathogenic/Likely pathogenic
(May 20, 2011)
classified by single submitter357198277
10.
HESX1Pituitary hormone deficiency, combined, 5Pathogenic/Likely pathogenic
(May 13, 2014)
classified by single submitter357198399 - 57198400
11.
See casesPathogenic/Likely pathogenic
(Aug 12, 2011)
classified by single submitter354045018 - 66060461

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