ClinVar Miner

List of variants reported as likely pathogenic for pituitary gland adenoma by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (14):

Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph adenoma
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types
Cushing syndrome; McCune-Albright syndrome; Pseudohypoparathyroidism; Pseudohypoparathyroidism type 1C; Somatotroph adenoma; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia
Familial isolated pituitary adenoma
McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A
Pituitary adenoma 3, multiple types
Pituitary adenoma 5, multiple types
Pituitary adenoma predisposition
Pituitary adenoma, growth hormone-secreting, 2
Pituitary dependent hypercortisolism
Pituitary dependent hypercortisolism; Somatotroph adenoma
Prolactin-producing pituitary gland adenoma; High myopia
Somatotroph adenoma

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)	rs1344509500	0.00003
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)	rs183431253	0.00001
NM_022124.6(CDH23):c.1143_1176del	rs764949139
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT	rs1589384283

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