"GeneDx"[submitter] AND "BRWD3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 60336	GRCh38/hg38 Xq21.1(chrX:80629216-80762500)x2	BRWD3	Copy number gain	See cases	GUncertain significance
Select item 368720	NM_153252.5(BRWD3):c.*265AC[4]	BRWD3	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1299199	NM_153252.5(BRWD3):c.5273T>C (p.Leu1758Ser)	BRWD3 (L1758S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386131	NM_153252.5(BRWD3):c.5237G>A (p.Arg1746Gln)	BRWD3 (R1746Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708791	NM_153252.5(BRWD3):c.5233C>T (p.Pro1745Ser)	BRWD3 (P1745S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315066	NM_153252.5(BRWD3):c.5208G>C (p.Met1736Ile)	BRWD3 (M1736I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194640	NM_153252.5(BRWD3):c.5173C>T (p.Arg1725Ter)	BRWD3 (R1725*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 368723	NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +2 more	GBenign
Select item 392941	NM_153252.5(BRWD3):c.5117G>A (p.Gly1706Glu)	BRWD3 (G1706E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128531	NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +2 more	GBenign/Likely benign
Select item 620311	NM_153252.5(BRWD3):c.5089C>T (p.Arg1697Ter)	BRWD3 (R1697*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1194742	NM_153252.5(BRWD3):c.5081G>A (p.Arg1694Gln)	BRWD3 (R1694Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982911	NM_153252.5(BRWD3):c.5080C>T (p.Arg1694Ter)	BRWD3 (R1694*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1307383	NM_153252.5(BRWD3):c.5078G>T (p.Gly1693Val)	BRWD3 (G1693V)	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 2573875	NM_153252.5(BRWD3):c.5020G>A (p.Gly1674Ser)	BRWD3 (G1674S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451460	NM_153252.5(BRWD3):c.4994G>A (p.Trp1665Ter)	BRWD3 (W1665*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1303868	NM_153252.5(BRWD3):c.4955G>C (p.Arg1652Thr)	BRWD3 (R1652T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501516	NM_153252.5(BRWD3):c.4855T>C (p.Cys1619Arg)	BRWD3 (C1619R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429480	NM_153252.5(BRWD3):c.4823A>G (p.Glu1608Gly)	BRWD3 (E1608G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446626	NM_153252.5(BRWD3):c.4798C>G (p.His1600Asp)	BRWD3 (H1600D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379244	NM_153252.5(BRWD3):c.4757G>A (p.Gly1586Glu)	BRWD3 (G1586E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384338	NM_153252.5(BRWD3):c.4732G>A (p.Ala1578Thr)	BRWD3 (A1578T)	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 1029232	NM_153252.5(BRWD3):c.4705A>G (p.Thr1569Ala)	BRWD3 (T1569A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2663567	NM_153252.5(BRWD3):c.4693A>G (p.Arg1565Gly)	BRWD3 (R1565G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574203	NM_153252.5(BRWD3):c.4666_4677del (p.Asp1556_Leu1559del)	BRWD3	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1801073	NM_153252.5(BRWD3):c.4631A>G (p.Asn1544Ser)	BRWD3 (N1544S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313683	NM_153252.5(BRWD3):c.4598_4599delinsTT (p.Ser1533Ile)	BRWD3 (S1533I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2413098	NM_153252.5(BRWD3):c.4502A>T (p.Asp1501Val)	BRWD3 (D1501V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208305	NM_153252.5(BRWD3):c.4496-81A>T	BRWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296106	NM_153252.5(BRWD3):c.4496-86C>T	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271910	NM_153252.5(BRWD3):c.4496-135A>G	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1722921	NM_153252.5(BRWD3):c.4472C>G (p.Thr1491Ser)	BRWD3 (T1491S)	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 3365392	NM_153252.5(BRWD3):c.4441G>C (p.Asp1481His)	BRWD3 (D1481H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270626	NM_153252.5(BRWD3):c.4398-24G>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241913	NM_153252.5(BRWD3):c.4398-30del	BRWD3	Deletion (intron variant)	not provided	GBenign
Select item 1287719	NM_153252.5(BRWD3):c.4398-114C>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312956	NM_153252.5(BRWD3):c.4345A>G (p.Arg1449Gly)	BRWD3 (R1449G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 279712	NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr)	BRWD3 (A1437T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2662687	NM_153252.5(BRWD3):c.4236C>G (p.Ile1412Met)	BRWD3 (I1412M)	Single nucleotide variant (missense 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 1198098	NM_153252.5(BRWD3):c.4234-140_4234-137del	BRWD3	Deletion (intron variant)	not provided	GLikely benign
Select item 1267567	NM_153252.5(BRWD3):c.4233+271G>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344994	NM_153252.5(BRWD3):c.4211A>G (p.Tyr1404Cys)	BRWD3 (Y1404C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810646	NM_153252.5(BRWD3):c.4208C>T (p.Ala1403Val)	BRWD3 (A1403V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196877	NM_153252.5(BRWD3):c.4081-248A>T	BRWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276416	NM_153252.5(BRWD3):c.4081-253T>C	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443366	NM_153252.5(BRWD3):c.4057CAA[4] (p.Gln1354_Asp1355insGlnGln)	BRWD3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1697139	NM_153252.5(BRWD3):c.4057CAA[1] (p.Gln1354del)	BRWD3 (Q1354del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 620222	NM_153252.5(BRWD3):c.4054A>T (p.Arg1352Ter)	BRWD3 (R1352*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 620459	NM_153252.5(BRWD3):c.4015G>T (p.Glu1339Ter)	BRWD3 (E1339*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2662992	NM_153252.5(BRWD3):c.4006G>C (p.Gly1336Arg)	BRWD3 (G1336R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185922	NM_153252.5(BRWD3):c.4006-137_4006-136insAGAATGACGAATGTACAATTT	BRWD3	Insertion (intron variant)	not provided	GLikely benign
Select item 2499413	NM_153252.5(BRWD3):c.4004C>T (p.Pro1335Leu)	BRWD3 (P1335L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878868	NM_153252.5(BRWD3):c.3899G>A (p.Cys1300Tyr)	BRWD3 (C1300Y)	Single nucleotide variant (missense 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 1315053	NM_153252.5(BRWD3):c.3873C>G (p.Cys1291Trp)	BRWD3 (C1291W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192742	NM_153252.5(BRWD3):c.3865-119TA[12]	BRWD3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1237445	NM_153252.5(BRWD3):c.3865-119TA[10]	BRWD3	Microsatellite (intron variant)	not provided	GBenign
Select item 804042	NM_153252.5(BRWD3):c.3865-119TA[9]	BRWD3	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1247577	NM_153252.5(BRWD3):c.3865-293G>C	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212060	NM_153252.5(BRWD3):c.3865-296G>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 281080	NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg)	BRWD3 (K1288R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93 +2 more	GBenign
Select item 1205024	NM_153252.5(BRWD3):c.3808-169A>C	BRWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195599	NM_153252.5(BRWD3):c.3807+129G>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2574905	NM_153252.5(BRWD3):c.3799G>A (p.Ala1267Thr)	BRWD3 (A1267T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501335	NM_153252.5(BRWD3):c.3784C>T (p.Arg1262Ter)	BRWD3 (R1262*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3365465	NM_153252.5(BRWD3):c.3762TAA[1] (p.Asn1255del)	BRWD3 (N1255del)	Microsatellite	not provided	GUncertain significance
Select item 1203572	NM_153252.5(BRWD3):c.3729-1G>C	BRWD3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 235505	NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter)	BRWD3 (R1240*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2661974	NM_153252.5(BRWD3):c.3635A>G (p.Tyr1212Cys)	BRWD3 (Y1212C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806500	NM_153252.5(BRWD3):c.3605G>T (p.Arg1202Ile)	BRWD3 (R1202I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265196	NM_153252.5(BRWD3):c.3603-311T>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 914753	NM_153252.5(BRWD3):c.3602+14T>A	BRWD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1698265	NM_153252.5(BRWD3):c.3591T>A (p.Asn1197Lys)	BRWD3 (N1197K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308039	NM_153252.5(BRWD3):c.3557C>G (p.Thr1186Ser)	BRWD3 (T1186S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230797	NM_153252.5(BRWD3):c.3481+136G>T	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426141	NM_153252.5(BRWD3):c.3433G>A (p.Glu1145Lys)	BRWD3 (E1145K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627842	NM_153252.5(BRWD3):c.3413G>A (p.Trp1138Ter)	BRWD3 (W1138*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2579944	NM_153252.5(BRWD3):c.3413G>C (p.Trp1138Ser)	BRWD3 (W1138S)	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 1313334	NM_153252.5(BRWD3):c.3397C>T (p.Pro1133Ser)	BRWD3 (P1133S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423040	NM_153252.5(BRWD3):c.3359C>T (p.Pro1120Leu)	BRWD3 (P1120L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 368726	NM_153252.5(BRWD3):c.3326-14del	BRWD3	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1252372	NM_153252.5(BRWD3):c.3264-184G>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282013	NM_153252.5(BRWD3):c.3263+275T>C	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191316	NM_153252.5(BRWD3):c.3263+186C>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2443471	NM_153252.5(BRWD3):c.3171A>G (p.Ile1057Met)	BRWD3 (I1057M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267265	NM_153252.5(BRWD3):c.3152-330G>C	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260471	NM_153252.5(BRWD3):c.3151+178T>A	BRWD3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1704947	NM_153252.5(BRWD3):c.3146A>G (p.Gln1049Arg)	BRWD3 (Q1049R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576851	NM_153252.5(BRWD3):c.3100C>T (p.Leu1034Phe)	BRWD3 (L1034F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313707	NM_153252.5(BRWD3):c.3083C>T (p.Pro1028Leu)	BRWD3 (P1028L)	Single nucleotide variant (missense 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 1288733	NM_153252.5(BRWD3):c.3068+176GT[23]	BRWD3	Microsatellite (intron variant)	not provided	GBenign

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