"GeneDx"[submitter] AND "CHD2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 59385	GRCh38/hg38 15q26.1(chr15:92170113-93438995)x1	C15orf32, CHASERR +48 more	Copy number loss	See cases	GPathogenic
Select item 420379	NM_001271.4(CHD2):c.-88_-87dup	CHD2	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 508686	NM_001271.4(CHD2):c.-84C>T	CHD2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 420434	NM_001271.4(CHD2):c.-83dup	CHD2	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 384922	NM_001271.4(CHD2):c.-72+12A>G	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 385474	NM_001271.4(CHD2):c.-47A>G	CHD2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3378031	NM_001271.4(CHD2):c.3G>T (p.Met1Ile)	CHD2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1136287	NM_001271.4(CHD2):c.30G>A (p.Glu10=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 393128	NM_001271.4(CHD2):c.59C>G (p.Ser20Trp)	CHD2 (S20W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 2013479	NM_001271.4(CHD2):c.62+3A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 509806	NM_001271.4(CHD2):c.62+14A>C	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385208	NM_001271.4(CHD2):c.62+19C>A	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 1243744	NM_001271.4(CHD2):c.62+40T>G	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677580	NM_001271.4(CHD2):c.63-214T>C	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678357	NM_001271.4(CHD2):c.63-197G>T	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678358	NM_001271.4(CHD2):c.63-160C>T	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420427	NM_001271.4(CHD2):c.63-22TC[8]	CHD2	Microsatellite (intron variant)	not specified	GLikely benign
Select item 388063	NM_001271.4(CHD2):c.63-19C>T	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 508276	NM_001271.4(CHD2):c.63-15C>G	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 515514	NM_001271.4(CHD2):c.63-13C>A	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1707026	NM_001271.4(CHD2):c.63-9_63-8insTG	CHD2	Insertion (intron variant)	not provided	GUncertain significance
Select item 420607	NM_001271.4(CHD2):c.107A>T (p.Gln36Leu)	CHD2 (Q36L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 386446	NM_001271.4(CHD2):c.153C>T (p.Ser51=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 517675	NM_001271.4(CHD2):c.159G>A (p.Ser53=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3371480	NM_001271.4(CHD2):c.169T>A (p.Ser57Thr)	CHD2 (S57T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 512179	NM_001271.4(CHD2):c.174A>G (p.Glu58=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
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 1303167	NM_001271.4(CHD2):c.191C>T (p.Ser64Leu)	CHD2 (S64L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704083	NM_001271.4(CHD2):c.205G>C (p.Glu69Gln)	CHD2 (E69Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063897	NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)	CHD2 (E69D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 514951	NM_001271.4(CHD2):c.219C>G (p.Ser73=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 210709	NM_001271.4(CHD2):c.225C>G (p.Ser75=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 210710	NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)	CHD2 (P80L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +3 more	GConflicting classifications of pathogenicity
Select item 1165728	NM_001271.4(CHD2):c.261C>G (p.Ala87=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign/Likely benign
Select item 280443	NM_001271.4(CHD2):c.271G>T (p.Glu91Ter)	CHD2 (E91*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 392048	NM_001271.4(CHD2):c.294+5C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GConflicting classifications of pathogenicity
Select item 510613	NM_001271.4(CHD2):c.294+18C>T	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 679124	NM_001271.4(CHD2):c.294+112T>A	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669402	NM_001271.4(CHD2):c.295-254_295-253insGTTTAT	CHD2	Insertion (intron variant)	not provided	GBenign
Select item 676981	NM_001271.4(CHD2):c.295-154A>T	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238246	NM_001271.4(CHD2):c.295-30A>G	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234122	NM_001271.4(CHD2):c.295-22G>A	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386182	NM_001271.4(CHD2):c.295-20G>A	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GBenign/Likely benign
Select item 517989	NM_001271.4(CHD2):c.295-17G>A	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 511101	NM_001271.4(CHD2):c.327C>G (p.Val109=)	CHD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 384803	NM_001271.4(CHD2):c.330G>A (p.Arg110=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 372997	NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)	CHD2 (R114*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 60712	NM_001271.4(CHD2):c.361C>T (p.Arg121Ter)	CHD2 (R121*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 421719	NM_001271.4(CHD2):c.362G>T (p.Arg121Leu)	CHD2 (R121L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 669570	NM_001271.4(CHD2):c.382-304T>C	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677368	NM_001271.4(CHD2):c.382-179T>C	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575781	NM_001271.4(CHD2):c.399G>C (p.Glu133Asp)	CHD2 (E133D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662808	NM_001271.4(CHD2):c.443+4A>C	CHD2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1212821	NM_001271.4(CHD2):c.443+217G>A	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668075	NM_001271.4(CHD2):c.443+261C>T	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671820	NM_001271.4(CHD2):c.444-285G>A	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270531	NM_001271.4(CHD2):c.444-237dup	CHD2	Duplication (intron variant)	not provided	GBenign
Select item 411858	NM_001271.4(CHD2):c.457C>G (p.Gln153Glu)	CHD2 (Q153E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 862661	NM_001271.4(CHD2):c.458A>G (p.Gln153Arg)	CHD2 (Q153R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 523920	NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer)	CHD2	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 238885	NM_001271.4(CHD2):c.516A>G (p.Gln172=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 386123	NM_001271.4(CHD2):c.551+5A>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GConflicting classifications of pathogenicity
Select item 1223800	NM_001271.4(CHD2):c.551+80G>A	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188293	NM_001271.4(CHD2):c.551+121T>C	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681300	NM_001271.4(CHD2):c.551+152A>G	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249385	NM_001271.4(CHD2):c.551+181G>A	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678924	NM_001271.4(CHD2):c.552-152G>A	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286118	NM_001271.4(CHD2):c.552-24C>T	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384016	NM_001271.4(CHD2):c.568C>T (p.Arg190Cys)	CHD2 (R190C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 393150	NM_001271.4(CHD2):c.574A>G (p.Lys192Glu)	CHD2 (K192E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 512707	NM_001271.4(CHD2):c.585G>A (p.Pro195=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 385694	NM_001271.4(CHD2):c.600A>G (p.Gly200=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 257714	NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)	CHD2 (K203R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1302585	NM_001271.4(CHD2):c.616G>C (p.Asp206His)	CHD2 (D206H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2580556	NM_001271.4(CHD2):c.620C>A (p.Ser207Tyr)	CHD2 (S207Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425076	NM_001271.4(CHD2):c.630G>T (p.Glu210Asp)	CHD2 (E210D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +2 more	GConflicting classifications of pathogenicity
Select item 420908	NM_001271.4(CHD2):c.667C>G (p.Arg223Gly)	CHD2 (R223G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 856563	NM_001271.4(CHD2):c.668G>A (p.Arg223His)	CHD2 (R223H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 513340	NM_001271.4(CHD2):c.692+3A>G	CHD2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 676982	NM_001271.4(CHD2):c.692+161G>A	CHD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227038	NM_001271.4(CHD2):c.692+228A>T	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677468	NM_001271.4(CHD2):c.693-125G>T	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
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 265660	NM_001271.4(CHD2):c.693-2A>T	CHD2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 511534	NM_001271.4(CHD2):c.720T>A (p.Thr240=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 597693	NM_001271.4(CHD2):c.753A>G (p.Glu251=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 518170	NM_001271.4(CHD2):c.798C>G (p.Val266=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2572699	NM_001271.4(CHD2):c.808A>G (p.Arg270Gly)	CHD2 (R270G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368930	NM_001271.4(CHD2):c.819G>T (p.Lys273Asn)	CHD2 (K273N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342741	NM_001271.4(CHD2):c.824G>A (p.Gly275Glu)	CHD2 (G275E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514492	NM_001271.4(CHD2):c.825A>T (p.Gly275=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 513636	NM_001271.4(CHD2):c.826+4T>C	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign/Likely benign
Select item 390672	NM_001271.4(CHD2):c.826+14G>A	CHD2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 668076	NM_001271.4(CHD2):c.826+271C>G	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298087	NM_001271.4(CHD2):c.827-193dup	CHD2	Duplication (intron variant)	not provided	GBenign
Select item 1293020	NM_001271.4(CHD2):c.827-146G>C	CHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309023	NM_001271.4(CHD2):c.830C>G (p.Thr277Ser)	CHD2 (T277S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993646	NM_001271.4(CHD2):c.847G>C (p.Val283Leu)	CHD2 (V283L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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