"Clinical Genetics and Genomics, Karolinska University Hospital"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 988504	NM_017780.4(CHD7):c.830dup (p.Asn278fs)	CHD7 (N278fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 267421	NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter)	CHD7 (R987*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	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
Select item 379722	NM_017780.4(CHD7):c.6175G>T (p.Glu2059Ter)	CHD7 (E2059*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 988475	NM_017780.4(CHD7):c.6756del (p.Glu2253fs)	CHD7 (E2253fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 988437	NM_017780.4(CHD7):c.7456C>T (p.Gln2486Ter)	CHD7 (Q2486*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic

ClinVar