ClinVar Miner

List of variants reported as likely pathogenic for Haddad syndrome

Included ClinVar conditions (5):

Congenital central hypoventilation
Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a
Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a
Congenital central hypoventilation; Neuroblastoma 2
Haddad syndrome

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Total variants: 2

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HGVS	dbSNP
NM_003924.4(PHOX2B):c.618del (p.Ser207fs)	rs587776626
NM_020975.6(RET):c.1947G>A (p.Ser649=)	rs377767412

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