"Daryl Scott Lab, Baylor College of Medicine"[submitter] AND "CHD7"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560976	NM_017780.4(CHD7):c.282del (p.Asn96fs)	CHD7 (N96fs)	Deletion (frameshift variant)	CHARGE syndrome	GPathogenic
Select item 1032765	NM_017780.4(CHD7):c.519del (p.Pro174fs)	CHD7 (P174fs)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GPathogenic
Select item 158279	NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)	CHD7 (R494*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1684268	NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr)	CHD7, LOC126860403 (P561T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GUncertain significance
Select item 267420	NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)	CHD7 (Y835fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1702965	NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs)	CHD7 (D1849fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 488680	NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)	CHD7 (Q1990*)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GPathogenic

ClinVar