"Ambry Genetics"[submitter] AND "BRWD3"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 807779	NM_153252.5(BRWD3):c.5297A>T (p.Asp1766Val)	BRWD3 (D1766V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 210542	NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg)	BRWD3 (G1701R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 1743728	NM_153252.5(BRWD3):c.4872C>T (p.Asp1624=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2289897	NM_153252.5(BRWD3):c.4791G>T (p.Glu1597Asp)	BRWD3 (E1597D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608172	NM_153252.5(BRWD3):c.4651C>G (p.Gln1551Glu)	BRWD3 (Q1551E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1741673	NM_153252.5(BRWD3):c.4586G>A (p.Arg1529Gln)	BRWD3 (R1529Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93 +1 more	GUncertain significance
Select item 1741595	NM_153252.5(BRWD3):c.4576G>T (p.Gly1526Ter)	BRWD3 (G1526*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2532456	NM_153252.5(BRWD3):c.4573G>A (p.Gly1525Ser)	BRWD3 (G1525S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 734872	NM_153252.5(BRWD3):c.4572C>T (p.Phe1524=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +2 more	GBenign/Likely benign
Select item 2604230	NM_153252.5(BRWD3):c.4546G>C (p.Asp1516His)	BRWD3 (D1516H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 914258	NM_153252.5(BRWD3):c.4328G>C (p.Arg1443Thr)	BRWD3 (R1443T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1739108	NM_153252.5(BRWD3):c.4253G>A (p.Arg1418Gln)	BRWD3 (R1418Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3261909	NM_153252.5(BRWD3):c.4234A>G (p.Ile1412Val)	BRWD3 (I1412V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1937037	NM_153252.5(BRWD3):c.4234A>C (p.Ile1412Leu)	BRWD3 (I1412L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2229527	NM_153252.5(BRWD3):c.4123G>A (p.Val1375Met)	BRWD3 (V1375M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271406	NM_153252.5(BRWD3):c.4102A>T (p.Thr1368Ser)	BRWD3 (T1368S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 759602	NM_153252.5(BRWD3):c.4088A>G (p.Gln1363Arg)	BRWD3 (Q1363R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1736968	NM_153252.5(BRWD3):c.4006-8C>T	BRWD3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1736298	NM_153252.5(BRWD3):c.3936A>G (p.Leu1312=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 985063	NM_153252.5(BRWD3):c.3886C>T (p.Gln1296Ter)	BRWD3 (Q1296*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2366731	NM_153252.5(BRWD3):c.3875G>A (p.Arg1292Gln)	BRWD3 (R1292Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1735390	NM_153252.5(BRWD3):c.3837C>T (p.Asp1279=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2441658	NM_153252.5(BRWD3):c.3724A>G (p.Ile1242Val)	BRWD3 (I1242V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 93 +1 more	GUncertain significance
Select item 2539739	NM_153252.5(BRWD3):c.3607A>T (p.Ile1203Leu)	BRWD3 (I1203L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1733020	NM_153252.5(BRWD3):c.3596T>A (p.Phe1199Tyr)	BRWD3 (F1199Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373233	NM_153252.5(BRWD3):c.3578G>A (p.Arg1193Gln)	BRWD3 (R1193Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1731505	NM_153252.5(BRWD3):c.3445C>T (p.Arg1149Trp)	BRWD3 (R1149W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914754	NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=)	BRWD3	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 93 +2 more	GBenign/Likely benign
Select item 2069733	NM_153252.5(BRWD3):c.3007T>G (p.Leu1003Val)	BRWD3 (L1003V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 590204	NM_153252.5(BRWD3):c.2729G>C (p.Gly910Ala)	BRWD3 (G910A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2541423	NM_153252.5(BRWD3):c.2698A>G (p.Lys900Glu)	BRWD3 (K900E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1792842	NM_153252.5(BRWD3):c.2542A>G (p.Ser848Gly)	BRWD3 (S848G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1792269	NM_153252.5(BRWD3):c.2502C>T (p.Asp834=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2217210	NM_153252.5(BRWD3):c.2479G>T (p.Asp827Tyr)	BRWD3 (D827Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1601400	NM_153252.5(BRWD3):c.2346T>C (p.Cys782=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 252790	NM_153252.5(BRWD3):c.2325+5G>A	BRWD3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
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 588386	NM_153252.5(BRWD3):c.2300A>C (p.Lys767Thr)	BRWD3 (K767T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788129	NM_153252.5(BRWD3):c.2232-3T>C	BRWD3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 368727	NM_153252.5(BRWD3):c.2184G>A (p.Ala728=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2261758	NM_153252.5(BRWD3):c.2183C>T (p.Ala728Val)	BRWD3 (A728V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589633	NM_153252.5(BRWD3):c.1962G>A (p.Leu654=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2255235	NM_153252.5(BRWD3):c.1943A>T (p.Asp648Val)	BRWD3 (D648V)	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 589648	NM_153252.5(BRWD3):c.1761A>G (p.Pro587=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 1774096	NM_153252.5(BRWD3):c.1506G>T (p.Arg502=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 589284	NM_153252.5(BRWD3):c.1505G>A (p.Arg502Gln)	BRWD3 (R502Q)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +1 more	GUncertain significance
Select item 2285202	NM_153252.5(BRWD3):c.1490G>A (p.Arg497Gln)	BRWD3 (R497Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 434543	NM_153252.5(BRWD3):c.1300T>C (p.Tyr434His)	BRWD3 (Y434H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1756117	NM_153252.5(BRWD3):c.1233C>T (p.Gly411=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1754556	NM_153252.5(BRWD3):c.1227G>A (p.Met409Ile)	BRWD3 (M409I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 985154	NM_153252.5(BRWD3):c.1086G>A (p.Thr362=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GUncertain significance
Select item 2039044	NM_153252.5(BRWD3):c.915A>G (p.Arg305=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588353	NM_153252.5(BRWD3):c.814-4T>A	BRWD3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 587856	NM_153252.5(BRWD3):c.814-4del	BRWD3	Deletion (intron variant)	not provided +1 more	GBenign
Select item 198921	NM_153252.5(BRWD3):c.769G>A (p.Val257Ile)	BRWD3 (V257I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1759931	NM_153252.5(BRWD3):c.763G>A (p.Ala255Thr)	BRWD3 (A255T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230326	NM_153252.5(BRWD3):c.746G>A (p.Trp249Ter)	BRWD3 (W249*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 210543	NM_153252.5(BRWD3):c.597A>C (p.Ser199=)	BRWD3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 753218	NM_153252.5(BRWD3):c.492A>G (p.Ser164=)	BRWD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 985829	NM_153252.5(BRWD3):c.473T>C (p.Phe158Ser)	BRWD3 (F158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1643657	NM_153252.5(BRWD3):c.436A>G (p.Ile146Val)	BRWD3 (I146V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2231274	NM_153252.5(BRWD3):c.392C>T (p.Pro131Leu)	BRWD3 (P131L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589420	NM_153252.5(BRWD3):c.381A>G (p.Arg127=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2608467	NM_153252.5(BRWD3):c.309G>C (p.Gln103His)	BRWD3 (Q103H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1788609	NM_153252.5(BRWD3):c.225T>C (p.Ile75=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 195424	NM_153252.5(BRWD3):c.33G>A (p.Glu11=)	BRWD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1773974	NM_153252.5(BRWD3):c.14C>G (p.Pro5Arg)	BRWD3 (P5R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 76