"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257715	NM_001271.4(CHD2):c.693-20C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign
Select item 1224771	NM_001271.4(CHD2):c.1719+71C>T	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 257706	NM_001271.4(CHD2):c.2049A>G (p.Glu683=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 3255300	NM_001271.4(CHD2):c.2190-59G>T	CHD2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1265641	NM_001271.4(CHD2):c.2505+39C>G	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 257708	NM_001271.4(CHD2):c.2718A>G (p.Gln906=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +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 3255297	NM_001271.4(CHD2):c.2974-56T>C	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1705832	NM_001271.4(CHD2):c.3199dup (p.Ile1067fs)	CHD2 (I1067fs)	Duplication (frameshift variant)	Lennox-Gastaut syndrome	GPathogenic
Select item 678928	NM_001271.4(CHD2):c.3237+64A>T	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 678929	NM_001271.4(CHD2):c.3455+186A>G	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 257709	NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 678933	NM_001271.4(CHD2):c.4137+86G>A	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 676983	NM_001271.4(CHD2):c.4278+27A>G	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1297965	NM_001271.4(CHD2):c.4278+52A>G	CHD2	Single nucleotide variant (intron variant)	not provided +1 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 1293029	NM_001271.4(CHD2):c.4592+103C>T	CHD2	Single nucleotide variant (intron variant)	not specified +1 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 1293271	NM_001271.4(CHD2):c.4907-65dup	CHD2	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1293030	NM_001271.4(CHD2):c.5153+173G>C	CHD2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1221827	NM_001271.4(CHD2):c.5154-76G>A	CHD2	Single nucleotide variant (intron variant)	not provided +1 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

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Items: 25