Related gene-specific medical variations for Gene (Select 1107) - ClinVar

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3067967	NM_001005273.3(CHD3):c.5117G>A (p.Arg1706Gln)	CHD3 (R1672Q +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3063588	NM_001005273.3(CHD3):c.3910C>T (p.Arg1304Ter)	CHD3 (R1304* +1 more)	Single nucleotide variant (nonsense)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3057398	NM_001005273.3(CHD3):c.924+6dup	CHD3, LOC126862484	Duplication (intron variant)	CHD3-related condition	GLikely benign
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 3027216	NM_001005273.3(CHD3):c.1256G>A (p.Ser419Asn)	CHD3, LOC126862484 (S419N +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 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 2672140	NM_001005273.3(CHD3):c.3563C>G (p.Ala1188Gly)	CHD3 (A1188G +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2647425	NM_001005273.3(CHD3):c.841C>T (p.Arg281Cys)	CHD3, LOC126862484 (R281C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647420	NM_001330111.2(NAA38):c.-167+119CGG[4]	CHD3, NAA38	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
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 2647418	NM_001330111.2(NAA38):c.-167+254CTC[5]	CHD3, NAA38 (E35del)	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 2580031	NM_001005271.3(CHD3):c.139G>T (p.Asp47Tyr)	NAA38, CHD3 (D47Y)	Single nucleotide variant (missense variant +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 2575174	NM_001005273.3(CHD3):c.2150A>G (p.Asp717Gly)	CHD3 (D717G +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2574667	NM_001005273.3(CHD3):c.3431A>T (p.Asn1144Ile)	CHD3 (N1144I +1 more)	Single nucleotide variant	Snijders Blok-Campeau syndrome	GPathogenic
Select item 2567607	NM_001005273.3(CHD3):c.1235G>A (p.Arg412Gln)	CHD3, LOC126862484 (R471Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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
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 2505752	NM_001330111.2(NAA38):c.-167+273_-167+275del	CHD3, NAA38 (D29del)	Microsatellite (inframe_deletion +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 2502198	NM_001005273.3(CHD3):c.4361C>T (p.Ala1454Val)	CHD3 (A1454V +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2441746	NM_001005273.3(CHD3):c.5134G>A (p.Ala1712Thr)	CHD3 (A1678T +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2439984	NM_001005273.3(CHD3):c.2096A>G (p.Lys699Arg)	CHD3 (K699R +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2439982	NM_001005273.3(CHD3):c.4544C>T (p.Pro1515Leu)	CHD3 (P1515L +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2439981	NM_001005273.3(CHD3):c.4786G>A (p.Glu1596Lys)	CHD3 (E1596K +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2439980	NM_001005273.3(CHD3):c.4775A>G (p.Lys1592Arg)	CHD3 (K1592R +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2439978	NM_001005273.3(CHD3):c.4117G>T (p.Asp1373Tyr)	CHD3 (D1373Y +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2439977	NM_001005273.3(CHD3):c.5116C>T (p.Arg1706Trp)	CHD3 (R1672W +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2439976	NM_001005273.3(CHD3):c.4604C>A (p.Thr1535Asn)	CHD3 (T1535N +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2439975	NM_001005273.3(CHD3):c.3561dup (p.Ala1188fs)	CHD3 (A1188fs +1 more)	Duplication (frameshift variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 2429894	NM_001005273.3(CHD3):c.3894G>A (p.Lys1298=)	CHD3	Single nucleotide variant (synonymous variant)	Developmental disorder	GLikely benign
Select item 2429403	NM_001005273.3(CHD3):c.5113C>T (p.Pro1705Ser)	CHD3 (P1671S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2387999	NM_001330111.2(NAA38):c.-167+107_-167+130del	CHD3, NAA38	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 1992313	NM_001005273.3(CHD3):c.3233G>A (p.Arg1078Gln)	CHD3 (R1137Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1698498	NM_001330111.2(NAA38):c.-167+106_-167+107insT	NAA38, CHD3 (P85fs)	Insertion (frameshift variant +1 more)	not specified	GUncertain significance
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 1696545	NM_001005273.3(CHD3):c.4556C>G (p.Pro1519Arg)	CHD3 (P1519R +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1696512	NM_001005273.3(CHD3):c.4077_4080delinsGTGGGGGTGGAGT (p.Asn1359_Gln1360delinsLysTrpGlyTrpSer)	CHD3	Indel (inframe_indel)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 1693287	NM_001005273.3(CHD3):c.5335G>C (p.Glu1779Gln)	CHD3 (E1745Q +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1690903	NM_001005273.3(CHD3):c.1249A>C (p.Lys417Gln)	CHD3, LOC126862484 (K417Q +1 more)	Single nucleotide variant (missense variant)	See cases	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 1342454	NM_001005273.3(CHD3):c.4788+6T>A	CHD3	Single nucleotide variant (intron variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1342403	NM_001005273.3(CHD3):c.4945G>C (p.Glu1649Gln)	CHD3 (E1649Q +1 more)	Single nucleotide variant (intron variant +1 more)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1330948	NM_001005273.3(CHD3):c.3776C>T (p.Ala1259Val)	CHD3 (A1259V +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 1319381	NM_001330111.2(NAA38):c.-167+172C>G	NAA38, CHD3 (D63H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319380	NM_001005273.3(CHD3):c.5169G>A (p.Trp1723Ter)	CHD3 (W1689* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1319379	NM_001005273.3(CHD3):c.3496G>C (p.Ala1166Pro)	CHD3 (A1166P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 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 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 1298691	NM_001330111.2(NAA38):c.-167+111_-167+122del	CHD3, NAA38	Deletion (inframe_deletion +1 more)	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 1233832	NM_001005271.3(CHD3):c.277+8C>G	CHD3, NAA38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210084	NM_001330111.2(NAA38):c.-167+119CGG[8]	CHD3, NAA38	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 1184432	NM_001005273.3(CHD3):c.2084C>T (p.Pro695Leu)	CHD3 (P695L +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 1184424	NM_001005273.3(CHD3):c.3377G>C (p.Gly1126Ala)	CHD3 (G1126A +1 more)	Single nucleotide variant (missense variant)	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 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 977444	NM_001005273.3(CHD3):c.4861G>A (p.Val1621Met)	CHD3 (V1621M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977382	NM_001005273.3(CHD3):c.1282G>A (p.Val428Ile)	CHD3, LOC126862484 (V428I +1 more)	Single nucleotide variant (missense variant)	Seizure	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 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 932351	NM_001330111.2(NAA38):c.-167+317C>T	CHD3, NAA38	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 871294	NM_001330111.2(NAA38):c.-167+144A>C	NAA38, CHD3 (L72R)	Single nucleotide variant (missense variant +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 769908	NM_001005271.3(CHD3):c.267_275dup (p.Pro92_Asp93insProProPro)	CHD3, NAA38	Duplication (inframe_insertion +1 more)	not provided	GBenign
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 549749	NM_001005273.3(CHD3):c.5802_5803insGAAC (p.Phe1935fs)	CHD3 (F1994fs +2 more)	Insertion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 549747	NM_001005273.3(CHD3):c.4073-2A>G	CHD3	Single nucleotide variant (splice acceptor variant)	Intellectual disability	GLikely pathogenic
Select item 549728	NM_001005273.3(CHD3):c.1369G>T (p.Glu457Ter)	CHD3 (E457* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic

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Links from Gene

Items: 87