BRD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 60272	GRCh38/hg38 19p13.12(chr19:15227306-15496644)x3	AKAP8, AKAP8L +27 more	Copy number gain	See cases	GUncertain significance
Select item 2764370	NM_001379291.1(BRD4):c.4080T>C (p.Asn1360=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895066	NM_001379291.1(BRD4):c.4066A>G (p.Ile1356Val)	BRD4 (I1356V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890258	NM_001379291.1(BRD4):c.4059A>G (p.Leu1353=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100040	NM_001379291.1(BRD4):c.4033A>G (p.Ile1345Val)	BRD4 (I1345V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119653	NM_001379291.1(BRD4):c.4021-13C>T	BRD4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2873329	NM_001379291.1(BRD4):c.4020+11A>T	BRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 778171	NM_001379291.1(BRD4):c.4020+9G>T	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1685591	NM_001379291.1(BRD4):c.4020+1G>A	BRD4	Single nucleotide variant (splice donor variant)	De Lange syndrome	GPathogenic
Select item 718290	NM_001379291.1(BRD4):c.3978G>T (p.Glu1326Asp)	BRD4 (E1326D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1983079	NM_001379291.1(BRD4):c.3966C>T (p.Asp1322=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838982	NM_001379291.1(BRD4):c.3951C>T (p.Pro1317=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880714	NM_001379291.1(BRD4):c.3947A>T (p.Gln1316Leu)	BRD4 (Q1316L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915635	NM_001379291.1(BRD4):c.3933G>A (p.Gln1311=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898882	NM_001379291.1(BRD4):c.3931C>G (p.Gln1311Glu)	BRD4 (Q1311E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 710756	NM_001379291.1(BRD4):c.3927C>T (p.Thr1309=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2878318	NM_001379291.1(BRD4):c.3925A>T (p.Thr1309Ser)	BRD4 (T1309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418204	NM_001379291.1(BRD4):c.3925A>G (p.Thr1309Ala)	BRD4 (T1309A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980987	NM_001379291.1(BRD4):c.3921C>T (p.Ala1307=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982306	NM_001379291.1(BRD4):c.3919G>A (p.Ala1307Thr)	BRD4 (A1307T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071932	NM_001379291.1(BRD4):c.3915_3917dup (p.Ala1308_Thr1309insAla)	BRD4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2197471	NM_001379291.1(BRD4):c.3869_3892del (p.1282RQEQQQQQ[1])	BRD4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2871989	NM_001379291.1(BRD4):c.3879A>G (p.Gln1293=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001693	NM_001379291.1(BRD4):c.3855_3878dup (p.Gln1297_Gln1298insArgGlnGluGlnGlnGlnGlnGln)	BRD4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2711337	NM_001379291.1(BRD4):c.3851AGC[7] (p.Gln1289_Arg1290insGln)	BRD4	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2852734	NM_001379291.1(BRD4):c.3851AGC[5] (p.Gln1289del)	BRD4 (Q1289del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2138419	NM_001379291.1(BRD4):c.3868C>T (p.Arg1290Cys)	BRD4 (R1290C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068799	NM_001379291.1(BRD4):c.3867G>A (p.Gln1289=)	BRD4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2868188	NM_001379291.1(BRD4):c.3858G>A (p.Gln1286=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868315	NM_001379291.1(BRD4):c.3844C>T (p.Arg1282Cys)	BRD4 (R1282C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906725	NM_001379291.1(BRD4):c.3841C>T (p.Arg1281Trp)	BRD4 (R1281W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075753	NM_001379291.1(BRD4):c.3822G>A (p.Arg1274=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833771	NM_001379291.1(BRD4):c.3817C>T (p.Arg1273Trp)	BRD4 (R1273W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972966	NM_001379291.1(BRD4):c.3814G>A (p.Ala1272Thr)	BRD4 (A1272T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 775116	NM_001379291.1(BRD4):c.3810G>C (p.Glu1270Asp)	BRD4 (E1270D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2067387	NM_001379291.1(BRD4):c.3795C>T (p.Asp1265=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907692	NM_001379291.1(BRD4):c.3782+9G>A	BRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056734	NM_001379291.1(BRD4):c.3782+9G>T	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3257439	NM_001379291.1(BRD4):c.3780G>A (p.Met1260Ile)	BRD4 (M1260I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712176	NM_001379291.1(BRD4):c.3766C>T (p.Arg1256Trp)	BRD4 (R1256W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155841	NM_001379291.1(BRD4):c.3743C>T (p.Ala1248Val)	BRD4 (A1248V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2149518	NM_001379291.1(BRD4):c.3741C>T (p.His1247=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792816	NM_001379291.1(BRD4):c.3736G>A (p.Glu1246Lys)	BRD4 (E1246K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785573	NM_001379291.1(BRD4):c.3735C>G (p.Ala1245=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068917	NM_001379291.1(BRD4):c.3735C>T (p.Ala1245=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783228	NM_001379291.1(BRD4):c.3721C>T (p.Leu1241=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858679	NM_001379291.1(BRD4):c.3720C>G (p.Ala1240=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708222	NM_001379291.1(BRD4):c.3693_3709dup (p.Arg1237fs)	BRD4 (R1237fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 718319	NM_001379291.1(BRD4):c.3690C>T (p.Ala1230=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2415785	NM_001379291.1(BRD4):c.3687C>T (p.Arg1229=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787604	NM_001379291.1(BRD4):c.3681C>T (p.Phe1227=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2788485	NM_001379291.1(BRD4):c.3673G>A (p.Glu1225Lys)	BRD4 (E1225K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700687	NM_001379291.1(BRD4):c.3666_3672dup (p.Glu1225fs)	BRD4 (E1225fs)	Duplication (frameshift variant)	Syndromic intellectual disability	GLikely pathogenic
Select item 1977502	NM_001379291.1(BRD4):c.3664G>A (p.Asp1222Asn)	BRD4 (D1222N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868299	NM_001379291.1(BRD4):c.3663C>T (p.Ser1221=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990250	NM_001379291.1(BRD4):c.3647C>T (p.Thr1216Ile)	BRD4 (T1216I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649446	NM_001379291.1(BRD4):c.3636C>T (p.Thr1212=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953610	NM_001379291.1(BRD4):c.3630G>A (p.Pro1210=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055696	NM_001379291.1(BRD4):c.3603C>T (p.Ser1201=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881902	NM_001379291.1(BRD4):c.3594C>T (p.Asn1198=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186713	NM_001379291.1(BRD4):c.3588C>A (p.Ile1196=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832915	NM_001379291.1(BRD4):c.3587T>C (p.Ile1196Thr)	BRD4 (I1196T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798001	NM_001379291.1(BRD4):c.3576+20G>T	BRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869115	NM_001379291.1(BRD4):c.3576+18T>A	BRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973184	NM_001379291.1(BRD4):c.3576+18T>C	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2072179	NM_001379291.1(BRD4):c.3576+3T>C	BRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056059	NM_001379291.1(BRD4):c.3567G>A (p.Ala1189=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1979935	NM_001379291.1(BRD4):c.3566C>T (p.Ala1189Val)	BRD4 (A1189V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093082	NM_001379291.1(BRD4):c.3540_3541del (p.Lys1181fs)	BRD4 (K1181fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2899179	NM_001379291.1(BRD4):c.3522C>A (p.Ala1174=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2873922	NM_001379291.1(BRD4):c.3509C>G (p.Pro1170Arg)	BRD4 (P1170R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946536	NM_001379291.1(BRD4):c.3509C>T (p.Pro1170Leu)	BRD4 (P1170L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732322	NM_001379291.1(BRD4):c.3504C>T (p.Asn1168=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791288	NM_001379291.1(BRD4):c.3501G>C (p.Gln1167His)	BRD4 (Q1167H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984730	NM_001379291.1(BRD4):c.3498G>A (p.Glu1166=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868057	NM_001379291.1(BRD4):c.3492C>T (p.Pro1164=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710757	NM_001379291.1(BRD4):c.3489G>A (p.Arg1163=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2050241	NM_001379291.1(BRD4):c.3477G>A (p.Arg1159=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725382	NM_001379291.1(BRD4):c.3473G>A (p.Gly1158Glu)	BRD4 (G1158E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027318	NM_001379291.1(BRD4):c.3471C>T (p.Val1157=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415701	NM_001379291.1(BRD4):c.3450G>A (p.Pro1150=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777445	NM_001379291.1(BRD4):c.3446-10T>C	BRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782519	NM_001379291.1(BRD4):c.3446-17G>A	BRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971102	NM_001379291.1(BRD4):c.3446-18C>T	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183214	NM_001379291.1(BRD4):c.3446-34G>A	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2811462	NM_001379291.1(BRD4):c.3445+8C>T	BRD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178871	NM_001379291.1(BRD4):c.3430G>A (p.Val1144Ile)	BRD4 (V1144I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2170738	NM_001379291.1(BRD4):c.3426C>T (p.Ala1142=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2970786	NM_001379291.1(BRD4):c.3420C>T (p.Ile1140=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016690	NM_001379291.1(BRD4):c.3404A>G (p.Lys1135Arg)	BRD4 (K1135R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128746	NM_001379291.1(BRD4):c.3396G>C (p.Glu1132Asp)	BRD4 (E1132D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971957	NM_001379291.1(BRD4):c.3393G>A (p.Pro1131=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744992	NM_001379291.1(BRD4):c.3392C>T (p.Pro1131Leu)	BRD4 (P1131L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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