"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986994	NM_001271.4(CHD2):c.231_234dup (p.Leu79fs)	CHD2 (L79fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 426731	NM_001271.4(CHD2):c.982C>T (p.Gln328Ter)	CHD2 (Q328*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 986910	NM_001271.4(CHD2):c.1652_1653dup (p.Phe552fs)	CHD2 (F552fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 987022	NM_001271.4(CHD2):c.2666G>A (p.Trp889Ter)	CHD2 (W889*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987400	NM_001271.4(CHD2):c.3571C>T (p.Gln1191Ter)	CHD2 (Q1191*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987173	NM_001271.4(CHD2):c.4985_4986dup (p.His1663fs)	CHD2 (H1663fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic

ClinVar