"Revvity Omics, Revvity"[submitter] AND "CHD2"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1017856	NM_001271.4(CHD2):c.40T>G (p.Ser14Ala)	CHD2 (S14A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 279756	NM_001271.4(CHD2):c.185G>A (p.Ser62Asn)	CHD2 (S62N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 2439966	NM_001271.4(CHD2):c.522A>C (p.Lys174Asn)	CHD2 (K174N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1050992	NM_001271.4(CHD2):c.553A>G (p.Thr185Ala)	CHD2 (T185A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439967	NM_001271.4(CHD2):c.955A>G (p.Ser319Gly)	CHD2 (S319G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1188802	NM_001271.4(CHD2):c.1503-5T>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 572552	NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser)	CHD2 (P665S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439970	NM_001271.4(CHD2):c.2001-4del	CHD2	Deletion (intron variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439968	NM_001271.4(CHD2):c.2345T>G (p.Ile782Ser)	CHD2 (I782S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 861987	NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg)	CHD2 (T801R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +2 more	GConflicting classifications of pathogenicity
Select item 1322075	NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA (p.Thr1089fs)	CHD2 (T1089fs)	Indel (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 1057204	NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys)	CHD2 (R1251C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 432036	NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)	CHD2 (W1261L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 425079	NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)	CHD2 (P1353L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +3 more	GConflicting classifications of pathogenicity
Select item 2178590	NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)	CHD2 (P1366R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 1038971	NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp)	CHD2 (N1371D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439974	NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)	CHD2 (M1388V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218395	NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)	CHD2 (Q1392fs)	Duplication (frameshift variant)	Autistic behavior +3 more	GPathogenic
Select item 218392	NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs)	CHD2 (E1412fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 94	GPathogenic
Select item 2439965	NM_001271.4(CHD2):c.4289G>A (p.Gly1430Asp)	CHD2 (G1430D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2690477	NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely benign
Select item 421601	NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp)	CHD2 (E1500D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 382913	NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)	CHD2 (R1588W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +3 more	GConflicting classifications of pathogenicity
Select item 1993934	NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser)	CHD2 (N1600S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 833711	NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)	CHD2 (N1634I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GConflicting classifications of pathogenicity
Select item 513867	NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr)	CHD2 (H1662Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 513760	NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)	CHD2 (A1683T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 2439971	NM_001271.4(CHD2):c.5119C>G (p.Arg1707Gly)	CHD2 (R1707G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 2439972	NM_001271.4(CHD2):c.5155C>T (p.His1719Tyr)	CHD2 (H1719Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94	GUncertain significance
Select item 420381	NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)	CHD2 (Q1734H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance

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Items: 30