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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376414	NM_001005273.3(CHD3):c.1076-14G>A	CHD3, LOC126862484	Single nucleotide variant (intron variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3372398	NM_001005271.3(CHD3):c.164G>C (p.Gly55Ala)	CHD3, NAA38 (G55A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369754	NM_001005273.3(CHD3):c.1161G>C (p.Gln387His)	CHD3, LOC126862484 (Q387H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364881	NM_001005273.3(CHD3):c.995A>G (p.His332Arg)	CHD3, LOC126862484 (H332R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363916	NM_001005273.3(CHD3):c.1043A>C (p.Lys348Thr)	CHD3, LOC126862484 (K348T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363639	NM_001005273.3(CHD3):c.1264C>T (p.His422Tyr)	CHD3, LOC126862484 (H422Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362723	NM_001005271.3(CHD3):c.45G>A (p.Met15Ile)	CHD3, NAA38 (M15I)	Single nucleotide variant (missense variant +1 more)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3362367	NM_001005273.3(CHD3):c.719C>A (p.Pro240His)	CHD3 (P240H +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3362308	NM_001005273.3(CHD3):c.2960A>C (p.Glu987Ala)	CHD3 (E1046A +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GUncertain significance
Select item 3361212	NM_001005273.3(CHD3):c.1198G>A (p.Ala400Thr)	CHD3 (A400T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361157	NM_001005273.3(CHD3):c.2890A>G (p.Met964Val)	CHD3 (M1023V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359790	NM_001005273.3(CHD3):c.578G>T (p.Trp193Leu)	CHD3 (W193L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359584	NM_001005273.3(CHD3):c.2238G>T (p.Trp746Cys)	CHD3 (W746C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359077	NM_001005273.3(CHD3):c.3560G>A (p.Arg1187His)	CHD3 (R1187H +1 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome	GLikely pathogenic
Select item 3345770	NM_001005273.3(CHD3):c.1108G>C (p.Glu370Gln)	CHD3, LOC126862484 (E370Q +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 3343731	NM_001005271.3(CHD3):c.121G>A (p.Glu41Lys)	CHD3, NAA38 (E41K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342761	NM_001005271.3(CHD3):c.107T>A (p.Val36Glu)	CHD3, NAA38 (V36E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3266840	NM_001005273.3(CHD3):c.1196G>A (p.Arg399His)	CHD3, LOC126862484 (R399H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257019	NM_001005271.3(CHD3):c.193C>T (p.His65Tyr)	CHD3, NAA38 (H65Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3057398	NM_001005273.3(CHD3):c.924+6dup	CHD3, LOC126862484	Duplication (intron variant)	CHD3-related disorder	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	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 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 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_001005271.3(CHD3):c.222GCC[4] (p.Pro80_Pro82del)	CHD3, NAA38	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2647419	NM_001005271.3(CHD3):c.205G>A (p.Gly69Ser)	CHD3, NAA38 (G69S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647418	NM_001005271.3(CHD3):c.89AGG[5] (p.Glu35del)	CHD3, NAA38 (E35del)	Microsatellite (intron variant)	not provided	GBenign
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 2576817	NM_001005271.3(CHD3):c.243_251del (p.Leu83_Pro85del)	CHD3, NAA38	Deletion (intron variant)	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	GConflicting classifications of pathogenicity
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_001005271.3(CHD3):c.84CGA[1] (p.Asp29del)	CHD3, NAA38 (D29del)	Microsatellite (intron variant)	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_001005271.3(CHD3):c.243_266del (p.Leu83_Pro90del)	CHD3, NAA38	Deletion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2348919	NM_001005271.3(CHD3):c.261_275del (p.Pro88_Pro92del)	CHD3, NAA38	Deletion (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2343495	NM_001005271.3(CHD3):c.222GCC[6] (p.Pro82del)	CHD3, NAA38 (P82del)	Microsatellite (intron variant)	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	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 1698498	NM_001005273.2(CHD3):c.-3943_-3942insA	CHD3, NAA38 (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	CHD3, NAA38 (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_001005271.3(CHD3):c.240_251del (p.Leu83_Pro86del)	NAA38, CHD3	Deletion (intron 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 1233832	NM_001005271.3(CHD3):c.277+8C>G	CHD3, NAA38	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210084	NM_001005271.3(CHD3):c.222GCC[8] (p.Pro82_Leu83insPro)	CHD3, NAA38	Microsatellite (intron variant)	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)	Inborn genetic diseases +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_001005271.3(CHD3):c.70G>A (p.Glu24Lys)	CHD3, NAA38 (E24K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 932351	NM_001005271.3(CHD3):c.42G>A (p.Glu14=)	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_001005271.3(CHD3):c.215T>G (p.Leu72Arg)	CHD3, NAA38 (L72R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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