"Ambry Genetics"[submitter] AND "BRWD1"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2325956	NM_033656.4(BRWD1):c.*9179T>A	BRWD1 (N2303K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235486	NM_033656.4(BRWD1):c.*9157A>C	BRWD1 (E2296A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533448	NM_033656.4(BRWD1):c.*9145A>G	BRWD1 (N2292S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552599	NM_033656.4(BRWD1):c.*9087T>G	BRWD1 (S2273A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218353	NM_033656.4(BRWD1):c.*9003A>G	BRWD1 (M2245V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613622	NM_033656.4(BRWD1):c.*8964C>T	BRWD1 (R2232C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543991	NM_033656.4(BRWD1):c.6527C>T (p.Thr2176Ile)	BRWD1 (T2176I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236696	NM_033656.4(BRWD1):c.6520A>G (p.Thr2174Ala)	BRWD1 (T2174A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483551	NM_033656.4(BRWD1):c.6402A>T (p.Glu2134Asp)	BRWD1 (E2134D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348210	NM_033656.4(BRWD1):c.6119C>A (p.Ala2040Glu)	BRWD1 (A2040E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482902	NM_033656.4(BRWD1):c.6020C>T (p.Thr2007Ile)	BRWD1 (T2007I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410639	NM_033656.4(BRWD1):c.5848T>G (p.Leu1950Val)	BRWD1 (L1950V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540883	NM_033656.4(BRWD1):c.5834T>C (p.Val1945Ala)	BRWD1 (V1945A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2235651	NM_033656.4(BRWD1):c.5666A>G (p.Gln1889Arg)	BRWD1 (Q1889R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517912	NM_033656.4(BRWD1):c.5635C>G (p.Pro1879Ala)	BRWD1 (P1879A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350119	NM_033656.4(BRWD1):c.5605T>G (p.Leu1869Val)	BRWD1 (L1869V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2467314	NM_033656.4(BRWD1):c.5579C>T (p.Ser1860Phe)	BRWD1 (S1860F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2530620	NM_033656.4(BRWD1):c.5531C>G (p.Pro1844Arg)	BRWD1 (P1844R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480204	NM_033656.4(BRWD1):c.5504G>A (p.Gly1835Glu)	BRWD1 (G1835E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264538	NM_033656.4(BRWD1):c.5460T>G (p.Ser1820Arg)	BRWD1 (S1820R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519060	NM_033656.4(BRWD1):c.5456T>A (p.Leu1819Gln)	BRWD1 (L1819Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377183	NM_033656.4(BRWD1):c.5429C>T (p.Ala1810Val)	BRWD1 (A1810V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373670	NM_033656.4(BRWD1):c.5383C>T (p.Pro1795Ser)	BRWD1 (P1795S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560698	NM_033656.4(BRWD1):c.5245A>G (p.Lys1749Glu)	BRWD1 (K1749E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540948	NM_033656.4(BRWD1):c.5228C>T (p.Pro1743Leu)	BRWD1 (P1743L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369076	NM_033656.4(BRWD1):c.5179C>T (p.Arg1727Trp)	BRWD1 (R1727W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299662	NM_033656.4(BRWD1):c.5152A>G (p.Arg1718Gly)	BRWD1 (R1718G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2306844	NM_033656.4(BRWD1):c.4868G>A (p.Gly1623Glu)	BRWD1 (G1623E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208902	NM_033656.4(BRWD1):c.4864G>C (p.Ala1622Pro)	BRWD1 (A1622P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380265	NM_033656.4(BRWD1):c.4612A>G (p.Thr1538Ala)	BRWD1 (T1538A)	Single nucleotide variant (missense variant)	BRWD1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2528716	NM_033656.4(BRWD1):c.4601A>G (p.Asp1534Gly)	BRWD1 (D1534G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378225	NM_033656.4(BRWD1):c.4474A>T (p.Thr1492Ser)	BRWD1 (T1492S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236695	NM_033656.4(BRWD1):c.4438A>G (p.Thr1480Ala)	BRWD1 (T1480A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597545	NM_033656.4(BRWD1):c.4418T>C (p.Val1473Ala)	BRWD1 (V1473A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530037	NM_033656.4(BRWD1):c.4408C>T (p.Pro1470Ser)	BRWD1 (P1470S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271882	NM_033656.4(BRWD1):c.4383G>T (p.Arg1461Ser)	BRWD1 (R1461S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260922	NM_033656.4(BRWD1):c.4322G>A (p.Arg1441Gln)	BRWD1 (R1441Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297903	NM_033656.4(BRWD1):c.4091G>A (p.Arg1364Lys)	BRWD1 (R1364K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552263	NM_033656.4(BRWD1):c.4046A>T (p.Asp1349Val)	BRWD1 (D1349V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458217	NM_033656.4(BRWD1):c.3968A>T (p.Lys1323Met)	BRWD1 (K1323M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303340	NM_033656.4(BRWD1):c.3914A>G (p.Lys1305Arg)	BRWD1 (K1305R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529680	NM_033656.4(BRWD1):c.3902T>A (p.Val1301Asp)	BRWD1 (V1301D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492030	NM_033656.4(BRWD1):c.3802A>G (p.Asn1268Asp)	BRWD1 (N1268D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408354	NM_033656.4(BRWD1):c.3644T>C (p.Val1215Ala)	BRWD1 (V1215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241134	NM_033656.4(BRWD1):c.3643G>T (p.Val1215Phe)	BRWD1 (V1215F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459510	NM_033656.4(BRWD1):c.3539A>G (p.Asp1180Gly)	BRWD1 (D1180G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614378	NM_033656.4(BRWD1):c.3124A>G (p.Arg1042Gly)	BRWD1 (R1042G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536569	NM_033656.4(BRWD1):c.3040G>A (p.Val1014Ile)	BRWD1 (V1014I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468987	NM_033656.4(BRWD1):c.2906G>A (p.Arg969Gln)	BRWD1 (R969Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327814	NM_033656.4(BRWD1):c.2774G>A (p.Arg925Gln)	BRWD1 (R925Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2351277	NM_033656.4(BRWD1):c.2773C>T (p.Arg925Trp)	BRWD1 (R925W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467579	NM_033656.4(BRWD1):c.2648C>T (p.Ser883Leu)	BRWD1 (S883L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589882	NM_033656.4(BRWD1):c.2428C>T (p.Arg810Cys)	BRWD1 (R810C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271639	NM_033656.4(BRWD1):c.2351C>T (p.Ser784Leu)	BRWD1 (S784L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509047	NM_033656.4(BRWD1):c.2059A>G (p.Thr687Ala)	BRWD1 (T687A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291713	NM_033656.4(BRWD1):c.2036G>C (p.Arg679Thr)	BRWD1 (R679T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236777	NM_033656.4(BRWD1):c.2000A>G (p.Asp667Gly)	BRWD1 (D667G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390189	NM_033656.4(BRWD1):c.1997A>G (p.Gln666Arg)	BRWD1 (Q666R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484889	NM_033656.4(BRWD1):c.1955C>T (p.Ser652Leu)	BRWD1 (S652L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593010	NM_033656.4(BRWD1):c.1912A>G (p.Ile638Val)	BRWD1 (I638V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495566	NM_033656.4(BRWD1):c.1777G>A (p.Val593Ile)	BRWD1 (V593I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291557	NM_033656.4(BRWD1):c.1721A>G (p.Tyr574Cys)	BRWD1 (Y574C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222493	NM_033656.4(BRWD1):c.1485A>G (p.Ile495Met)	BRWD1 (I495M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547578	NM_033656.4(BRWD1):c.1343A>G (p.His448Arg)	BRWD1 (H448R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308858	NM_033656.4(BRWD1):c.1315A>G (p.Ser439Gly)	BRWD1 (S439G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338577	NM_033656.4(BRWD1):c.1077A>C (p.Glu359Asp)	BRWD1 (E359D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313107	NM_033656.4(BRWD1):c.781G>A (p.Ala261Thr)	BRWD1 (A261T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612475	NM_033656.4(BRWD1):c.577G>A (p.Ala193Thr)	BRWD1 (A193T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310616	NM_033656.4(BRWD1):c.290T>A (p.Ile97Asn)	BRWD1 (I97N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 69