"Ambry Genetics"[submitter] AND "CHD2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1045197	NM_001271.4(CHD2):c.11A>G (p.Asn4Ser)	CHD2 (N4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 589774	NM_001271.4(CHD2):c.210A>C (p.Ser70=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589894	NM_001271.4(CHD2):c.225C>T (p.Ser75=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 210710	NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)	CHD2 (P80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 392048	NM_001271.4(CHD2):c.294+5C>T	CHD2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 384803	NM_001271.4(CHD2):c.330G>A (p.Arg110=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1521509	NM_001271.4(CHD2):c.443+1G>A	CHD2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy 94 +1 more	GPathogenic/Likely pathogenic
Select item 1533333	NM_001271.4(CHD2):c.477A>G (p.Glu159=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1746211	NM_001271.4(CHD2):c.522dup (p.Val175fs)	CHD2 (V175fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 238885	NM_001271.4(CHD2):c.516A>G (p.Gln172=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign/Likely benign
Select item 386123	NM_001271.4(CHD2):c.551+5A>C	CHD2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1750545	NM_001271.4(CHD2):c.592C>T (p.Gln198Ter)	CHD2 (Q198*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 626082	NM_001271.4(CHD2):c.594G>C (p.Gln198His)	CHD2 (Q198H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 943841	NM_001271.4(CHD2):c.595C>T (p.Arg199Cys)	CHD2 (R199C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 1134662	NM_001271.4(CHD2):c.596G>A (p.Arg199His)	CHD2 (R199H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 257714	NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)	CHD2 (K203R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 986064	NM_001271.4(CHD2):c.613C>T (p.Gln205Ter)	CHD2 (Q205*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 1398454	NM_001271.4(CHD2):c.663G>C (p.Gln221His)	CHD2 (Q221H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
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 589966	NM_001271.4(CHD2):c.674G>A (p.Arg225Lys)	CHD2 (R225K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 833556	NM_001271.4(CHD2):c.677C>T (p.Ala226Val)	CHD2 (A226V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 976278	NM_001271.4(CHD2):c.693-1G>A	CHD2	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely pathogenic
Select item 1577502	NM_001271.4(CHD2):c.699A>G (p.Lys233=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 985876	NM_001271.4(CHD2):c.706G>A (p.Asp236Asn)	CHD2 (D236N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1157024	NM_001271.4(CHD2):c.813G>A (p.Leu271=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 513636	NM_001271.4(CHD2):c.826+4T>C	CHD2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 385491	NM_001271.4(CHD2):c.855G>A (p.Ala285=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign
Select item 1491356	NM_001271.4(CHD2):c.887T>A (p.Phe296Tyr)	CHD2 (F296Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 387490	NM_001271.4(CHD2):c.907G>A (p.Gly303Ser)	CHD2 (G303S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign
Select item 588559	NM_001271.4(CHD2):c.918G>A (p.Gln306=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 1057270	NM_001271.4(CHD2):c.943T>C (p.Ser315Pro)	CHD2 (S315P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2546469	NM_001271.4(CHD2):c.946T>A (p.Tyr316Asn)	CHD2 (Y316N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1767332	NM_001271.4(CHD2):c.954C>T (p.His318=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 384086	NM_001271.4(CHD2):c.960A>T (p.Thr320=)	CHD2	Single nucleotide variant (synonymous variant)	CHD2-related disorder +3 more	GBenign/Likely benign
Select item 382915	NM_001271.4(CHD2):c.1017G>A (p.Glu339=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 585667	NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu)	CHD2 (Q350L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +2 more	GBenign/Likely benign
Select item 210708	NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)	CHD2 (N364S)	Single nucleotide variant (missense variant)	CHD2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 695820	NM_001271.4(CHD2):c.1116G>A (p.Glu372=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1729498	NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)	CHD2 (I379V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 588866	NM_001271.4(CHD2):c.1155T>A (p.Ala385=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 474372	NM_001271.4(CHD2):c.1188A>G (p.Thr396=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +2 more	GLikely benign
Select item 385549	NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu)	CHD2 (P407L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +2 more	GLikely benign
Select item 1756082	NM_001271.4(CHD2):c.1233C>G (p.Pro411=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1772156	NM_001271.4(CHD2):c.1417C>T (p.Gln473Ter)	CHD2 (Q473*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1165508	NM_001271.4(CHD2):c.1474C>T (p.Leu492=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 521332	NM_001271.4(CHD2):c.1532T>C (p.Met511Thr)	CHD2 (M511T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 420570	NM_001271.4(CHD2):c.1582C>G (p.His528Asp)	CHD2 (H528D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1776070	NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 521220	NM_001271.4(CHD2):c.1622C>G (p.Pro541Arg)	CHD2 (P541R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 589802	NM_001271.4(CHD2):c.1734A>G (p.Glu578=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 391318	NM_001271.4(CHD2):c.1770C>T (p.Asn590=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +2 more	GLikely benign
Select item 385704	NM_001271.4(CHD2):c.1773A>G (p.Ala591=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 238878	NM_001271.4(CHD2):c.1788T>C (p.Tyr596=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +3 more	GBenign
Select item 391539	NM_001271.4(CHD2):c.1810-3T>C	CHD2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2095322	NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)	CHD2 (T604N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 1784068	NM_001271.4(CHD2):c.1997A>G (p.Glu666Gly)	CHD2 (E666G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 429658	NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)	CHD2 (R699W)	Single nucleotide variant (missense variant)	Intellectual disability +3 more	GConflicting classifications of pathogenicity
Select item 2525978	NM_001271.4(CHD2):c.2155G>A (p.Val719Met)	CHD2 (V719M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233517	NM_001271.4(CHD2):c.2156T>C (p.Val719Ala)	CHD2 (V719A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787936	NM_001271.4(CHD2):c.2221del (p.Ala741fs)	CHD2 (A741fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 589807	NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile)	CHD2 (T744I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 588570	NM_001271.4(CHD2):c.2337A>C (p.Gly779=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 385502	NM_001271.4(CHD2):c.2337A>G (p.Gly779=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 1790884	NM_001271.4(CHD2):c.2410C>T (p.Arg804Ter)	CHD2 (R804*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1792300	NM_001271.4(CHD2):c.2505+152_2505+464del	CHD2	Deletion (intron variant)	Inborn genetic diseases	GBenign
Select item 512498	NM_001271.4(CHD2):c.2506-4A>G	CHD2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 590200	NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys)	CHD2 (R836C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1701885	NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln)	CHD2 (R846Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +2 more	GConflicting classifications of pathogenicity
Select item 1793561	NM_001271.4(CHD2):c.2595C>T (p.Leu865=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GConflicting classifications of pathogenicity
Select item 1794017	NM_001271.4(CHD2):c.2628G>A (p.Leu876=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GLikely benign
Select item 521364	NM_001271.4(CHD2):c.2636C>T (p.Ala879Val)	CHD2 (A879V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +2 more	GPathogenic/Likely pathogenic
Select item 1304278	NM_001271.4(CHD2):c.2702C>T (p.Ala901Val)	CHD2 (A901V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 589600	NM_001271.4(CHD2):c.2715T>C (p.Gly905=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 383403	NM_001271.4(CHD2):c.2728-3C>T	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +3 more	GBenign
Select item 383090	NM_001271.4(CHD2):c.2730A>T (p.Val910=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 546448	NM_001271.4(CHD2):c.2740C>T (p.Arg914Cys)	CHD2 (R914C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1150419	NM_001271.4(CHD2):c.2769G>A (p.Glu923=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1796843	NM_001271.4(CHD2):c.2851C>T (p.Leu951=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589936	NM_001271.4(CHD2):c.2874C>T (p.Ser958=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1797257	NM_001271.4(CHD2):c.2889T>C (p.Phe963=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1797836	NM_001271.4(CHD2):c.2932G>T (p.Asp978Tyr)	CHD2, LOC126862230 (D978Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522068	NM_001271.4(CHD2):c.2973G>A (p.Gln991=)	CHD2, LOC126862230	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 382732	NM_001271.4(CHD2):c.2973+4A>G	CHD2, LOC126862230	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1019161	NM_001271.4(CHD2):c.2974-3T>C	CHD2, LOC126862230	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 238879	NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94 +3 more	GBenign/Likely benign
Select item 588544	NM_001271.4(CHD2):c.3221G>A (p.Arg1074Gln)	CHD2 (R1074Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1001403	NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro)	CHD2 (A1080P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1729420	NM_001271.4(CHD2):c.3250G>A (p.Asp1084Asn)	CHD2 (D1084N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 386582	NM_001271.4(CHD2):c.3315G>A (p.Thr1105=)	CHD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 384642	NM_001271.4(CHD2):c.3321C>T (p.Asp1107=)	CHD2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 699157	NM_001271.4(CHD2):c.3354G>C (p.Gly1118=)	CHD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588933	NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu)	CHD2 (V1123L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +1 more	GUncertain significance
Select item 382649	NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr)	CHD2 (A1134T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 94 +3 more	GBenign/Likely benign
Select item 1731188	NM_001271.4(CHD2):c.3413+1G>C	CHD2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic

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