BRWD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 545244	NC_000021.9:g.(?_38981673)_(41568791_?)del	FAM3B, GET1 +85 more	Deletion	Autism	GLikely pathogenic
Select item 2325956	NM_033656.4(BRWD1):c.*9179T>A	BRWD1 (N2303K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135199	NM_033656.4(BRWD1):c.*9175T>C	BRWD1 (I2302T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235486	NM_033656.4(BRWD1):c.*9157A>C	BRWD1 (E2296A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533448	NM_033656.4(BRWD1):c.*9145A>G	BRWD1 (N2292S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261900	NM_033656.4(BRWD1):c.*9133A>G	BRWD1 (D2288G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552599	NM_033656.4(BRWD1):c.*9087T>G	BRWD1 (S2273A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218353	NM_033656.4(BRWD1):c.*9003A>G	BRWD1 (M2245V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135198	NM_033656.4(BRWD1):c.*8965G>A	BRWD1 (R2232H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613622	NM_033656.4(BRWD1):c.*8964C>T	BRWD1 (R2232C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052779	NM_033656.4(BRWD1):c.*8856G>A	BRWD1 (D2196N)	Single nucleotide variant (missense variant +1 more)	BRWD1-related disorder	GLikely benign
Select item 2652664	NM_033656.4(BRWD1):c.6696T>G (p.Leu2232=)	BRWD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2543991	NM_033656.4(BRWD1):c.6527C>T (p.Thr2176Ile)	BRWD1 (T2176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236696	NM_033656.4(BRWD1):c.6520A>G (p.Thr2174Ala)	BRWD1 (T2174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033349	NM_033656.4(BRWD1):c.6519T>C (p.Asn2173=)	BRWD1	Single nucleotide variant (synonymous variant)	BRWD1-related disorder	GLikely benign
Select item 3038361	NM_033656.4(BRWD1):c.6467A>G (p.Lys2156Arg)	BRWD1 (K2156R)	Single nucleotide variant (missense variant)	BRWD1-related disorder	GLikely benign
Select item 3261904	NM_033656.4(BRWD1):c.6439T>G (p.Ser2147Ala)	BRWD1 (S2147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047379	NM_033656.4(BRWD1):c.6419T>C (p.Ile2140Thr)	BRWD1 (I2140T)	Single nucleotide variant (missense variant)	BRWD1-related disorder	GBenign
Select item 2483551	NM_033656.4(BRWD1):c.6402A>T (p.Glu2134Asp)	BRWD1 (E2134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042792	NM_033656.4(BRWD1):c.6393G>A (p.Ser2131=)	BRWD1	Single nucleotide variant (synonymous variant)	BRWD1-related disorder	GLikely benign
Select item 3261895	NM_033656.4(BRWD1):c.6337A>G (p.Lys2113Glu)	BRWD1 (K2113E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056259	NM_033656.4(BRWD1):c.6148A>G (p.Thr2050Ala)	BRWD1 (T2050A)	Single nucleotide variant (missense variant)	BRWD1-related disorder	GBenign
Select item 2348210	NM_033656.4(BRWD1):c.6119C>A (p.Ala2040Glu)	BRWD1 (A2040E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482902	NM_033656.4(BRWD1):c.6020C>T (p.Thr2007Ile)	BRWD1 (T2007I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039911	NM_033656.4(BRWD1):c.5893C>T (p.Leu1965Phe)	BRWD1 (L1965F)	Single nucleotide variant (missense variant)	BRWD1-related disorder	GLikely benign
Select item 3261903	NM_033656.4(BRWD1):c.5872A>C (p.Lys1958Gln)	BRWD1 (K1958Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135197	NM_033656.4(BRWD1):c.5855A>G (p.Asn1952Ser)	BRWD1 (N1952S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410639	NM_033656.4(BRWD1):c.5848T>G (p.Leu1950Val)	BRWD1 (L1950V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540883	NM_033656.4(BRWD1):c.5834T>C (p.Val1945Ala)	BRWD1 (V1945A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135195	NM_033656.4(BRWD1):c.5828G>A (p.Ser1943Asn)	BRWD1 (S1943N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135194	NM_033656.4(BRWD1):c.5786G>A (p.Arg1929Gln)	BRWD1 (R1929Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261901	NM_033656.4(BRWD1):c.5702G>A (p.Arg1901Lys)	BRWD1 (R1901K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235651	NM_033656.4(BRWD1):c.5666A>G (p.Gln1889Arg)	BRWD1 (Q1889R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517912	NM_033656.4(BRWD1):c.5635C>G (p.Pro1879Ala)	BRWD1 (P1879A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350119	NM_033656.4(BRWD1):c.5605T>G (p.Leu1869Val)	BRWD1 (L1869V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2467314	NM_033656.4(BRWD1):c.5579C>T (p.Ser1860Phe)	BRWD1 (S1860F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 982437	NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	BRWD1 (Q1858L)	Single nucleotide variant (missense variant)	Male infertility +5 more	GPathogenic/Likely pathogenic
Select item 2530620	NM_033656.4(BRWD1):c.5531C>G (p.Pro1844Arg)	BRWD1 (P1844R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480204	NM_033656.4(BRWD1):c.5504G>A (p.Gly1835Glu)	BRWD1 (G1835E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135193	NM_033656.4(BRWD1):c.5468A>G (p.Glu1823Gly)	BRWD1 (E1823G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264538	NM_033656.4(BRWD1):c.5460T>G (p.Ser1820Arg)	BRWD1 (S1820R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519060	NM_033656.4(BRWD1):c.5456T>A (p.Leu1819Gln)	BRWD1 (L1819Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034162	NM_033656.4(BRWD1):c.5452A>G (p.Ile1818Val)	BRWD1 (I1818V)	Single nucleotide variant (missense variant)	BRWD1-related disorder	GLikely benign
Select item 3261893	NM_033656.4(BRWD1):c.5432G>A (p.Ser1811Asn)	BRWD1 (S1811N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135192	NM_033656.4(BRWD1):c.5431A>G (p.Ser1811Gly)	BRWD1 (S1811G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377183	NM_033656.4(BRWD1):c.5429C>T (p.Ala1810Val)	BRWD1 (A1810V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373670	NM_033656.4(BRWD1):c.5383C>T (p.Pro1795Ser)	BRWD1 (P1795S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135191	NM_033656.4(BRWD1):c.5323C>T (p.Pro1775Ser)	BRWD1 (P1775S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560698	NM_033656.4(BRWD1):c.5245A>G (p.Lys1749Glu)	BRWD1 (K1749E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540948	NM_033656.4(BRWD1):c.5228C>T (p.Pro1743Leu)	BRWD1 (P1743L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135189	NM_033656.4(BRWD1):c.5183T>G (p.Val1728Gly)	BRWD1 (V1728G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369076	NM_033656.4(BRWD1):c.5179C>T (p.Arg1727Trp)	BRWD1 (R1727W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299662	NM_033656.4(BRWD1):c.5152A>G (p.Arg1718Gly)	BRWD1 (R1718G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1302861	NM_033656.4(BRWD1):c.5096T>C (p.Leu1699Pro)	BRWD1 (L1699P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3042917	NM_033656.4(BRWD1):c.5023T>C (p.Leu1675=)	BRWD1	Single nucleotide variant (synonymous variant)	BRWD1-related disorder	GLikely benign
Select item 2306844	NM_033656.4(BRWD1):c.4868G>A (p.Gly1623Glu)	BRWD1 (G1623E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208902	NM_033656.4(BRWD1):c.4864G>C (p.Ala1622Pro)	BRWD1 (A1622P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342567	NM_033656.4(BRWD1):c.4745del (p.Arg1582fs)	BRWD1 (R1582fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3135188	NM_033656.4(BRWD1):c.4717A>G (p.Arg1573Gly)	BRWD1 (R1573G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047151	NM_033656.4(BRWD1):c.4642T>A (p.Ser1548Thr)	BRWD1 (S1548T)	Single nucleotide variant (missense variant)	BRWD1-related disorder	GLikely benign
Select item 3261896	NM_033656.4(BRWD1):c.4636A>G (p.Ser1546Gly)	BRWD1 (S1546G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040509	NM_033656.4(BRWD1):c.4616C>G (p.Ser1539Cys)	BRWD1 (S1539C)	Single nucleotide variant (missense variant)	BRWD1-related disorder	GBenign
Select item 2380265	NM_033656.4(BRWD1):c.4612A>G (p.Thr1538Ala)	BRWD1 (T1538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261908	NM_033656.4(BRWD1):c.4607T>C (p.Leu1536Ser)	BRWD1 (L1536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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