CHD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060195, LOC130060196 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	KCNAB3, LOC130060206 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 2542841	NM_001005271.3(CHD3):c.31G>A (p.Glu11Lys)	CHD3, NAA38 (E11K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 932351	NM_001330111.2(NAA38):c.-167+317C>T	CHD3, NAA38	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3144127	NM_001005271.3(CHD3):c.66A>C (p.Glu22Asp)	CHD3, NAA38 (E22D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 932352	NM_001330111.2(NAA38):c.-167+289C>T	CHD3, NAA38 (E24K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505752	NM_001330111.2(NAA38):c.-167+273_-167+275del	CHD3, NAA38 (D29del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2647418	NM_001330111.2(NAA38):c.-167+254CTC[5]	CHD3, NAA38 (E35del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 1307452	NM_001005271.3(CHD3):c.88G>A (p.Glu30Lys)	CHD3, NAA38 (E30K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3144105	NM_001005271.3(CHD3):c.121G>C (p.Glu41Gln)	CHD3, NAA38 (E41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144107	NM_001005271.3(CHD3):c.127G>T (p.Asp43Tyr)	CHD3, NAA38 (D43Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1313043	NM_001005271.3(CHD3):c.136G>A (p.Asp46Asn)	CHD3, NAA38 (D46N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2580031	NM_001005271.3(CHD3):c.139G>T (p.Asp47Tyr)	CHD3, NAA38 (D47Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504887	NM_001005271.3(CHD3):c.176A>G (p.Asp59Gly)	CHD3, NAA38 (D59G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319381	NM_001330111.2(NAA38):c.-167+172C>G	CHD3, NAA38 (D63H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3257019	NM_001330111.2(NAA38):c.-167+166G>A	CHD3, NAA38 (H65Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2266876	NM_001005271.3(CHD3):c.199C>T (p.Pro67Ser)	CHD3, NAA38 (P67S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2647419	NM_001330111.2(NAA38):c.-167+154C>T	CHD3, NAA38 (G69S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 871294	NM_001330111.2(NAA38):c.-167+144A>C	CHD3, NAA38 (L72R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1210084	NM_001330111.2(NAA38):c.-167+119CGG[8]	NAA38, CHD3	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2647420	NM_001330111.2(NAA38):c.-167+119CGG[4]	CHD3, NAA38	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2343495	NM_001330111.2(NAA38):c.-167+119CGG[6]	CHD3, NAA38 (P82del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2387999	NM_001330111.2(NAA38):c.-167+107_-167+130del	CHD3, NAA38	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1298691	NM_001330111.2(NAA38):c.-167+111_-167+122del	CHD3, NAA38	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2576817	NM_001005271.3(CHD3):c.243_251del (p.Leu83_Pro85del)	CHD3, NAA38	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 771021	NM_001005271.3(CHD3):c.243_245dup (p.Pro82_Leu83insPro)	CHD3, NAA38	Duplication (inframe_insertion +1 more)	Inborn genetic diseases +1 more	GBenign
Select item 2348919	NM_001330111.2(NAA38):c.-167+96_-167+110del	CHD3, NAA38	Deletion (inframe_deletion +1 more)	not provided +1 more	GLikely benign
Select item 2688772	NM_001005271.3(CHD3):c.250C>A (p.Pro84Thr)	CHD3, NAA38 (P84T)	Single nucleotide variant (missense variant +1 more)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1679699	NM_001005271.3(CHD3):c.250C>T (p.Pro84Ser)	CHD3, NAA38 (P84S)	Single nucleotide variant (missense variant +1 more)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1049451	NM_001005271.3(CHD3):c.251C>T (p.Pro84Leu)	CHD3, NAA38 (P84L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1698498	NM_001330111.2(NAA38):c.-167+106_-167+107insT	CHD3, NAA38 (P85fs)	Insertion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 769908	NM_001005271.3(CHD3):c.267_275dup (p.Pro92_Asp93insProProPro)	CHD3, NAA38	Duplication (inframe_insertion +1 more)	not provided	GBenign
Select item 2264294	NM_001005271.3(CHD3):c.265C>T (p.Pro89Ser)	CHD3, NAA38 (P89S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1233832	NM_001005271.3(CHD3):c.277+8C>G	CHD3, NAA38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3055294	NM_001005273.3(CHD3):c.8C>T (p.Ala3Val)	CHD3 (A3V)	Single nucleotide variant (missense variant +1 more)	CHD3-related disorder	GBenign
Select item 1802176	NM_001005273.3(CHD3):c.20_21del (p.Val7fs)	CHD3 (V7fs)	Microsatellite (frameshift variant +1 more)	Snijders Blok-Campeau syndrome	GPathogenic
Select item 3050085	NM_001005273.3(CHD3):c.67C>T (p.Pro23Ser)	CHD3 (P23S)	Single nucleotide variant (missense variant +1 more)	CHD3-related disorder	GLikely benign
Select item 3336340	NM_001005273.3(CHD3):c.70C>T (p.Pro24Ser)	CHD3 (P24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628956	NM_001005273.3(CHD3):c.75_76delinsGTGACAGGA (p.Leu26Ter)	CHD3 (L26*)	Indel (nonsense +1 more)	CHD3-related disorder	GLikely pathogenic
Select item 2429398	NM_001005273.3(CHD3):c.100+1G>A	CHD3	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2429975	NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)	CHD3 (D36V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 2637861	NM_001005273.3(CHD3):c.121C>A (p.Leu41Met)	CHD3 (L100M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351028	NM_001005273.3(CHD3):c.124C>T (p.Pro42Ser)	CHD3 (P42S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144111	NM_001005273.3(CHD3):c.152A>G (p.Lys51Arg)	CHD3 (K110R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647421	NM_001005273.3(CHD3):c.155G>A (p.Arg52Gln)	CHD3 (R111Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647422	NM_001005273.3(CHD3):c.202C>T (p.Arg68Cys)	CHD3 (R127C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983385	NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys)	CHD3 (R130C +1 more)	Single nucleotide variant (missense variant)	Autism +1 more	GUncertain significance
Select item 931783	NM_001005273.3(CHD3):c.214-20T>C	CHD3	Single nucleotide variant (intron variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3044891	NM_001005273.3(CHD3):c.214-9T>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 1696704	NM_001005273.3(CHD3):c.214-5C>T	CHD3	Single nucleotide variant (intron variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3144114	NM_001005273.3(CHD3):c.253C>T (p.Arg85Trp)	CHD3 (R144W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144115	NM_001005273.3(CHD3):c.275G>A (p.Gly92Asp)	CHD3 (G92D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975668	NM_001005273.3(CHD3):c.284A>G (p.Tyr95Cys)	CHD3 (Y154C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2664681	NM_001005273.3(CHD3):c.292G>A (p.Gly98Arg)	CHD3 (G157R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801342	NM_001005273.3(CHD3):c.296C>A (p.Pro99Gln)	CHD3 (P158Q +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 733748	NM_001005273.3(CHD3):c.297G>A (p.Pro99=)	CHD3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1703117	NM_001005273.3(CHD3):c.301C>T (p.Arg101Trp)	CHD3 (R101W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992307	NM_001005273.3(CHD3):c.341A>C (p.Lys114Thr)	CHD3 (K114T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228147	NM_001005273.3(CHD3):c.349C>T (p.Arg117Trp)	CHD3 (R117W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232083	NM_001005273.3(CHD3):c.384G>A (p.Lys128=)	CHD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 1209738	NM_001005273.3(CHD3):c.385-56C>G	CHD3	Single nucleotide variant (intron variant)	Snijders Blok-Campeau syndrome	GBenign
Select item 3144126	NM_001005273.3(CHD3):c.445C>T (p.His149Tyr)	CHD3 (H149Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257487	NM_001005273.3(CHD3):c.509+5G>A	CHD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216249	NM_001005273.3(CHD3):c.556A>G (p.Met186Val)	CHD3 (M186V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037427	NM_001005273.3(CHD3):c.633G>A (p.Ala211=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 1313116	NM_001005273.3(CHD3):c.704C>A (p.Ala235Glu)	CHD3 (A235E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694826	NM_001005273.3(CHD3):c.711C>G (p.Ser237=)	CHD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2302292	NM_001005273.3(CHD3):c.718C>A (p.Pro240Thr)	CHD3 (P299T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042436	NM_001005273.3(CHD3):c.720C>T (p.Pro240=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 2647423	NM_001005273.3(CHD3):c.721G>A (p.Ala241Thr)	CHD3 (A241T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1804438	NM_001005273.3(CHD3):c.737C>T (p.Pro246Leu)	CHD3 (P246L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3144128	NM_001005273.3(CHD3):c.739G>A (p.Ala247Thr)	CHD3 (A247T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608263	NM_001005273.3(CHD3):c.757C>T (p.Pro253Ser)	CHD3 (P312S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1457659	NM_001005273.3(CHD3):c.766C>T (p.Arg256Ter)	CHD3 (R256* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2412890	NM_001005273.3(CHD3):c.784G>A (p.Glu262Lys)	CHD3 (E262K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647424	NM_001005273.3(CHD3):c.793+4G>A	CHD3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3056554	NM_001005273.3(CHD3):c.793+10T>A	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GBenign
Select item 1301552	NM_001005273.3(CHD3):c.812G>T (p.Arg271Leu)	CHD3, LOC126862484 (R271L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647425	NM_001005273.3(CHD3):c.841C>T (p.Arg281Cys)	LOC126862484, CHD3 (R281C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032672	NM_001005273.3(CHD3):c.842G>A (p.Arg281His)	CHD3, LOC126862484 (R281H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3266844	NM_001005273.3(CHD3):c.854G>A (p.Arg285Gln)	CHD3, LOC126862484 (R285Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 560242	NM_001005273.3(CHD3):c.887T>C (p.Leu296Pro)	CHD3, LOC126862484 (L355P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025453	NM_001005273.3(CHD3):c.924G>A (p.Ser308=)	CHD3, LOC126862484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057398	NM_001005273.3(CHD3):c.924+6dup	CHD3, LOC126862484	Duplication (intron variant)	CHD3-related disorder	GLikely benign
Select item 2241299	NM_001005273.3(CHD3):c.977T>A (p.Leu326Gln)	CHD3, LOC126862484 (L385Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1809995	NM_001005273.3(CHD3):c.982A>G (p.Ser328Gly)	CHD3, LOC126862484 (S328G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3144103	NM_001005273.3(CHD3):c.1000G>C (p.Ala334Pro)	CHD3, LOC126862484 (A334P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144104	NM_001005273.3(CHD3):c.1028G>A (p.Arg343His)	CHD3, LOC126862484 (R402H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144106	NM_001005273.3(CHD3):c.1049G>A (p.Gly350Asp)	CHD3, LOC126862484 (G409D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283726	NM_001005273.3(CHD3):c.1057G>A (p.Gly353Arg)	CHD3, LOC126862484 (G412R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305027	NM_001005273.3(CHD3):c.1069A>C (p.Lys357Gln)	CHD3, LOC126862484 (K357Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664531	NM_001005273.3(CHD3):c.1099G>A (p.Gly367Arg)	CHD3, LOC126862484 (G367R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285450	NM_001005273.3(CHD3):c.1123G>A (p.Glu375Lys)	CHD3, LOC126862484 (E375K +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2545661	NM_001005273.3(CHD3):c.1163G>A (p.Gly388Asp)	CHD3, LOC126862484 (G447D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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