"Genome-Nilou Lab"[submitter] AND "CHD2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257706	NM_001271.4(CHD2):c.2049A>G (p.Glu683=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 257708	NM_001271.4(CHD2):c.2718A>G (p.Gln906=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 1209736	NM_001271.4(CHD2):c.2727+38T>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign
Select item 678926	NM_001271.4(CHD2):c.2728-53G>A	CHD2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 257709	NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 1209737	NM_001271.4(CHD2):c.4414-45C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign
Select item 680221	NM_001271.4(CHD2):c.4692+43A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign
Select item 680101	NM_001271.4(CHD2):c.5154-75C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign
Select item 680102	NM_001271.4(CHD2):c.5154-74C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign
Select item 257713	NM_001271.4(CHD2):c.5416A>C (p.Arg1806=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign