ClinVar Miner

List of variants in gene combination CDH23, LOC111982869 reported as pathogenic for pituitary gland adenoma

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)
NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)	rs878853337
NM_022124.6(CDH23):c.8054_8055del (p.Ala2685fs)	rs2132984089

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