ClinVar for Gene (Select 254065) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 844

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3572932	NM_153252.5(BRWD3):c.1150C>T (p.Arg384Ter)	BRWD3 (R384*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 93	GLikely pathogenic
Select item 3572622	NM_153252.5(BRWD3):c.952G>A (p.Gly318Arg)	BRWD3 (G318R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3482597	NM_153252.5(BRWD3):c.4168T>C (p.Phe1390Leu)	BRWD3 (F1390L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3482596	NM_153252.5(BRWD3):c.3082C>G (p.Pro1028Ala)	BRWD3 (P1028A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3482595	NM_153252.5(BRWD3):c.560C>G (p.Ala187Gly)	BRWD3 (A187G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3482593	NM_153252.5(BRWD3):c.2251A>G (p.Thr751Ala)	BRWD3 (T751A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3482592	NM_153252.5(BRWD3):c.3731A>G (p.Asp1244Gly)	BRWD3 (D1244G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3482591	NM_153252.5(BRWD3):c.4370G>A (p.Ser1457Asn)	BRWD3 (S1457N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3393443	NM_153252.5(BRWD3):c.4186del (p.Gln1396fs)	BRWD3 (Q1396fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 93	GLikely pathogenic
Select item 3391761	NM_153252.5(BRWD3):c.3050G>C (p.Gly1017Ala)	BRWD3 (G1017A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3389924	NM_153252.5(BRWD3):c.346C>T (p.Leu116=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3384877	NM_153252.5(BRWD3):c.3780A>C (p.Glu1260Asp)	BRWD3 (E1260D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3384530	NM_153252.5(BRWD3):c.4151A>G (p.Tyr1384Cys)	BRWD3 (Y1384C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384433	NM_153252.5(BRWD3):c.2555A>T (p.Asp852Val)	BRWD3 (D852V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383884	NM_153252.5(BRWD3):c.1519A>G (p.Met507Val)	BRWD3 (M507V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3383876	NM_153252.5(BRWD3):c.3556A>G (p.Thr1186Ala)	BRWD3 (T1186A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378348	NM_153252.5(BRWD3):c.4446G>C (p.Gln1482His)	BRWD3 (Q1482H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378118	NM_153252.5(BRWD3):c.319C>T (p.Arg107Trp)	BRWD3 (R107W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377340	NM_153252.5(BRWD3):c.3962A>T (p.Asp1321Val)	BRWD3 (D1321V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 3377339	NM_153252.5(BRWD3):c.2473G>T (p.Glu825Ter)	BRWD3 (E825*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 93	GPathogenic
Select item 3376367	NM_153252.5(BRWD3):c.2803C>T (p.Arg935Cys)	BRWD3 (R935C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 3376302	NM_153252.5(BRWD3):c.5357G>A (p.Arg1786His)	BRWD3 (R1786H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 3376175	NM_153252.5(BRWD3):c.2T>C (p.Met1Thr)	BRWD3 (M1T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 93	GLikely pathogenic
Select item 3375485	NM_153252.5(BRWD3):c.608T>G (p.Leu203Ter)	BRWD3 (L203*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 93	GLikely pathogenic
Select item 3375129	NM_153252.5(BRWD3):c.4562C>T (p.Ser1521Leu)	BRWD3 (S1521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3372637	NM_153252.4(BRWD3):c.593del	BRWD3	Deletion	not provided	GPathogenic
Select item 3372578	NM_153252.5(BRWD3):c.3149T>C (p.Ile1050Thr)	BRWD3 (I1050T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372331	NM_153252.5(BRWD3):c.1581T>G (p.His527Gln)	BRWD3 (H527Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371821	NM_153252.5(BRWD3):c.2669A>C (p.Asn890Thr)	BRWD3 (N890T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371494	NM_153252.5(BRWD3):c.1609T>A (p.Leu537Met)	BRWD3 (L537M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370160	NM_153252.5(BRWD3):c.2540A>G (p.Glu847Gly)	BRWD3 (E847G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369831	NM_153252.5(BRWD3):c.2615_2623del (p.Lys872_Gln874del)	BRWD3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3369748	NM_153252.5(BRWD3):c.592G>A (p.Gly198Ser)	BRWD3 (G198S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369719	NM_153252.5(BRWD3):c.2194A>G (p.Arg732Gly)	BRWD3 (R732G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369616	NM_153252.5(BRWD3):c.2212C>A (p.Leu738Ile)	BRWD3 (L738I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368898	NM_153252.5(BRWD3):c.964T>C (p.Ser322Pro)	BRWD3 (S322P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367329	NM_153252.5(BRWD3):c.4731T>G (p.Ser1577Arg)	BRWD3 (S1577R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	IGBP1, IGSF1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366163	NM_153252.5(BRWD3):c.2050A>G (p.Arg684Gly)	BRWD3 (R684G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365793	NM_153252.5(BRWD3):c.907A>C (p.Lys303Gln)	BRWD3 (K303Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365465	NM_153252.5(BRWD3):c.3762TAA[1] (p.Asn1255del)	BRWD3 (N1255del)	Microsatellite	not provided	GUncertain significance
Select item 3365392	NM_153252.5(BRWD3):c.4441G>C (p.Asp1481His)	BRWD3 (D1481H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364514	NM_153252.5(BRWD3):c.5073C>T (p.Gly1691=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3363964	NM_153252.5(BRWD3):c.4234-13T>G	BRWD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3363503	NM_153252.5(BRWD3):c.3073C>G (p.His1025Asp)	BRWD3 (H1025D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362784	NM_153252.5(BRWD3):c.665_666del (p.Ser222fs)	BRWD3 (S222fs)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 93	GPathogenic
Select item 3361882	NM_153252.5(BRWD3):c.1300T>A (p.Tyr434Asn)	BRWD3 (Y434N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361426	NM_153252.5(BRWD3):c.2624C>T (p.Thr875Ile)	BRWD3 (T875I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360981	NM_153252.5(BRWD3):c.1298G>A (p.Arg433His)	BRWD3 (R433H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360735	NM_153252.5(BRWD3):c.622G>T (p.Ala208Ser)	BRWD3 (A208S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360584	NM_153252.5(BRWD3):c.4177_4178delinsTT (p.Asp1393Phe)	BRWD3 (D1393F)	Indel (missense variant)	not provided	GUncertain significance
Select item 3360417	NM_153252.5(BRWD3):c.3593G>A (p.Arg1198His)	BRWD3 (R1198H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360035	NM_153252.5(BRWD3):c.760T>G (p.Cys254Gly)	BRWD3 (C254G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359525	NM_153252.5(BRWD3):c.764C>T (p.Ala255Val)	BRWD3 (A255V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359295	NM_153252.5(BRWD3):c.4406G>A (p.Gly1469Glu)	BRWD3 (G1469E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359134	NM_153252.5(BRWD3):c.4888dup (p.Arg1630fs)	BRWD3 (R1630fs)	Duplication (frameshift variant)	Intellectual disability, X-linked 93	GUncertain significance
Select item 3355257	NM_153252.5(BRWD3):c.2830G>A (p.Asp944Asn)	BRWD3 (D944N)	Single nucleotide variant (missense variant)	BRWD3-related disorder	GUncertain significance
Select item 3346404	NM_153252.5(BRWD3):c.4345_4351del (p.Arg1449fs)	BRWD3 (R1449fs)	Deletion (frameshift variant)	BRWD3-related disorder	GLikely pathogenic
Select item 3346312	NM_153252.5(BRWD3):c.3709G>A (p.Val1237Ile)	BRWD3 (V1237I)	Single nucleotide variant (missense variant)	BRWD3-related disorder	GUncertain significance
Select item 3346040	NM_153252.5(BRWD3):c.134G>C (p.Arg45Pro)	BRWD3 (R45P)	Single nucleotide variant (missense variant)	BRWD3-related disorder	GUncertain significance
Select item 3342984	NM_153252.5(BRWD3):c.2654G>T (p.Ser885Ile)	BRWD3 (S885I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340298	NM_153252.5(BRWD3):c.3409G>A (p.Glu1137Lys)	BRWD3 (E1137K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337873	NM_153252.5(BRWD3):c.11C>A (p.Ala4Glu)	BRWD3 (A4E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337008	NM_153252.5(BRWD3):c.5039dup (p.Gly1680_Arg1681insTer)	BRWD3	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3261909	NM_153252.5(BRWD3):c.4234A>G (p.Ile1412Val)	BRWD3 (I1412V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257327	NM_153252.5(BRWD3):c.2415T>A (p.His805Gln)	BRWD3 (H805Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252953	NM_153252.5(BRWD3):c.431-5T>C	BRWD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252603	NM_153252.5(BRWD3):c.3890C>G (p.Ser1297Cys)	BRWD3 (S1297C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246927	NC_000023.10:g.(?_79932108)_(80001248_?)dup	BRWD3	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3135204	NM_153252.5(BRWD3):c.4235T>C (p.Ile1412Thr)	BRWD3 (I1412T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135203	NM_153252.5(BRWD3):c.2339C>A (p.Pro780His)	BRWD3 (P780H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135202	NM_153252.5(BRWD3):c.2311T>C (p.Tyr771His)	BRWD3 (Y771H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135201	NM_153252.5(BRWD3):c.1834A>G (p.Lys612Glu)	BRWD3 (K612E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135200	NM_153252.5(BRWD3):c.1663A>G (p.Met555Val)	BRWD3 (M555V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3061434	NM_153252.5(BRWD3):c.3179A>T (p.Asp1060Val)	BRWD3 (D1060V)	Single nucleotide variant (missense variant)	BRWD3-related disorder	GUncertain significance
Select item 3054200	NM_153252.5(BRWD3):c.2296A>G (p.Lys766Glu)	BRWD3 (K766E)	Single nucleotide variant (missense variant)	BRWD3-related disorder	GUncertain significance
Select item 3047422	NM_153252.5(BRWD3):c.3084G>A (p.Pro1028=)	BRWD3	Single nucleotide variant (synonymous variant)	BRWD3-related disorder	GLikely benign
Select item 3042910	NM_153252.5(BRWD3):c.814-5_814-4dup	BRWD3	Duplication (intron variant)	BRWD3-related disorder	GLikely benign
Select item 3032973	NM_153252.5(BRWD3):c.1308C>T (p.Thr436=)	BRWD3	Single nucleotide variant (synonymous variant)	BRWD3-related disorder	GLikely benign
Select item 3027378	NM_153252.5(BRWD3):c.3714A>C (p.Leu1238Phe)	BRWD3 (L1238F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026699	NM_153252.5(BRWD3):c.121-4C>T	BRWD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026428	NM_153252.5(BRWD3):c.2232-4T>C	BRWD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025792	NM_153252.5(BRWD3):c.2464A>G (p.Ser822Gly)	BRWD3 (S822G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 3024174	NC_000023.11:g.(?_80671287)_(80671570_?)dup	BRWD3	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 3023507	NM_153252.5(BRWD3):c.3152-17A>G	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021804	NM_153252.5(BRWD3):c.3489C>T (p.Ala1163=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3021209	NM_153252.5(BRWD3):c.2475+3TA[6]	BRWD3	Microsatellite (intron variant)	not provided	GBenign
Select item 3017684	NM_153252.5(BRWD3):c.3955C>T (p.Arg1319Cys)	BRWD3 (R1319C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011140	NM_153252.5(BRWD3):c.1590C>T (p.Cys530=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009711	NM_153252.5(BRWD3):c.4089A>G (p.Gln1363=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001185	NM_153252.5(BRWD3):c.1408G>A (p.Val470Ile)	BRWD3 (V470I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2999788	NM_153252.5(BRWD3):c.2315C>G (p.Thr772Ser)	BRWD3 (T772S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998476	NM_153252.5(BRWD3):c.1380A>G (p.Thr460=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997468	NM_153252.5(BRWD3):c.3006C>T (p.Cys1002=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994139	NM_153252.5(BRWD3):c.409T>A (p.Tyr137Asn)	BRWD3 (Y137N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2993601	NM_153252.5(BRWD3):c.4907T>G (p.Val1636Gly)	BRWD3 (V1636G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991097	NM_153252.5(BRWD3):c.813+10G>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 9