"GeneDx"[submitter] AND "BRD4"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60272	GRCh38/hg38 19p13.12(chr19:15227306-15496644)x3	AKAP8, AKAP8L +27 more	Copy number gain	See cases	GUncertain significance
Select item 3367385	NM_001379291.1(BRD4):c.3517G>C (p.Gly1173Arg)	BRD4 (G1173R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1183214	NM_001379291.1(BRD4):c.3446-34G>A	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1613420	NM_001379291.1(BRD4):c.3290G>A (p.Arg1097His)	BRD4 (R1097H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1706303	NM_001379291.1(BRD4):c.3088C>G (p.Pro1030Ala)	BRD4 (P1030A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294591	NM_001379291.1(BRD4):c.2865A>C (p.Pro955=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3370815	NM_001379291.1(BRD4):c.2579C>G (p.Pro860Arg)	BRD4 (P860R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443678	NM_001379291.1(BRD4):c.2078C>G (p.Ser693Cys)	BRD4 (S693C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294590	NM_001379291.1(BRD4):c.2047+89dup	BRD4	Duplication (intron variant)	not provided	GBenign
Select item 1230279	NM_001379291.1(BRD4):c.2047+89_2047+90dup	BRD4	Duplication (intron variant)	not provided	GBenign
Select item 2446476	NM_001379291.1(BRD4):c.1982C>T (p.Pro661Leu)	BRD4 (P661L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287324	NM_001379291.1(BRD4):c.1950C>T (p.Asp650=)	BRD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1305258	NM_001379291.1(BRD4):c.1917_1923delinsCCTGAAGAATTCCAA (p.Arg640fs)	BRD4 (R640fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3363494	NM_001379291.1(BRD4):c.1774A>G (p.Lys592Glu)	BRD4 (K592E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368533	NM_001379291.1(BRD4):c.1574T>C (p.Leu525Pro)	BRD4 (L525P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306585	NM_001379291.1(BRD4):c.1526_1527delinsTA (p.Gln509Leu)	BRD4 (Q509L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2031896	NM_001379291.1(BRD4):c.1510GAG[2] (p.Glu506del)	BRD4 (E506del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1801137	NM_001379291.1(BRD4):c.1504G>A (p.Asp502Asn)	BRD4 (D502N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369749	NM_001379291.1(BRD4):c.1448C>T (p.Pro483Leu)	BRD4 (P483L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801188	NM_001379291.1(BRD4):c.1420_1440del (p.Pro474_Val480del)	BRD4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2507194	NM_001379291.1(BRD4):c.1400C>T (p.Ala467Val)	BRD4 (A467V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286848	NM_001379291.1(BRD4):c.1342-108C>T	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288090	NM_001379291.1(BRD4):c.1342-144C>T	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3375701	NM_001379291.1(BRD4):c.1015C>G (p.Gln339Glu)	BRD4 (Q339E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575636	NM_001379291.1(BRD4):c.1009G>A (p.Asp337Asn)	BRD4 (D337N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223626	NM_001379291.1(BRD4):c.967del (p.Glu323fs)	BRD4 (E323fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1804388	NM_001379291.1(BRD4):c.800C>G (p.Pro267Arg)	BRD4 (P267R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504087	NM_001379291.1(BRD4):c.766dup (p.Gln256fs)	BRD4 (Q256fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1804362	NM_001379291.1(BRD4):c.706A>G (p.Thr236Ala)	BRD4 (T236A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368549	NM_001379291.1(BRD4):c.538G>A (p.Gly180Arg)	BRD4 (G180R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227978	NM_001379291.1(BRD4):c.424-76_424-73del	BRD4	Microsatellite (intron variant)	not provided	GBenign
Select item 1269545	NM_001379291.1(BRD4):c.286-206dup	BRD4	Duplication (intron variant)	not provided	GBenign
Select item 1178878	NM_001379291.1(BRD4):c.285+110G>A	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221282	NM_001379291.1(BRD4):c.285+44G>T	BRD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312415	NM_001379291.1(BRD4):c.263A>T (p.Asp88Val)	BRD4 (D88V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378382	NM_001379291.1(BRD4):c.251A>G (p.Gln84Arg)	BRD4 (Q84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371056	NM_001379291.1(BRD4):c.220C>G (p.Leu74Val)	BRD4 (L74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342841	NM_001379291.1(BRD4):c.137dup (p.Pro47fs)	BRD4 (P47fs)	Duplication (frameshift variant)	not provided	GPathogenic

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Items: 38