BRD2[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3134956	NM_005104.4(BRD2):c.19C>T (p.Pro7Ser)	BRD2 (P7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555942	NM_005104.4(BRD2):c.25A>G (p.Asn9Asp)	BRD2 (N9D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1175005	NM_005104.4(BRD2):c.30-14dup	BRD2	Duplication (intron variant)	not specified	GBenign
Select item 218662	NM_005104.4(BRD2):c.35C>T (p.Pro12Leu)	BRD2 (P12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366904	NM_005104.4(BRD2):c.41A>C (p.Glu14Ala)	BRD2 (E14A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269092	NM_005104.4(BRD2):c.53G>C (p.Gly18Ala)	BRD2 (G18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726131	NM_005104.4(BRD2):c.55T>C (p.Leu19=)	BRD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 711314	NM_005104.4(BRD2):c.68G>A (p.Gly23Asp)	BRD2 (G23D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3058972	NM_005104.4(BRD2):c.93G>A (p.Lys31=)	BRD2	Single nucleotide variant (synonymous variant +1 more)	BRD2-related disorder	GBenign
Select item 3134954	NM_005104.4(BRD2):c.143T>C (p.Met48Thr)	BRD2 (M48T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 720050	NM_005104.4(BRD2):c.177C>A (p.Ala59=)	BRD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 772878	NM_005104.4(BRD2):c.201C>T (p.Ser67=)	BRD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 792903	NM_005104.4(BRD2):c.222A>G (p.Arg74=)	BRD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 722120	NM_005104.4(BRD2):c.285C>T (p.Phe95=)	BRD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3060819	NM_005104.4(BRD2):c.334-10T>C	BRD2	Single nucleotide variant (intron variant)	BRD2-related disorder	GBenign
Select item 3261703	NM_005104.4(BRD2):c.361A>G (p.Met121Val)	BRD2 (M121V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134957	NM_005104.4(BRD2):c.398A>G (p.Asn133Ser)	BRD2 (N133S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770361	NM_005104.4(BRD2):c.402T>C (p.Tyr134=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044768	NM_005104.4(BRD2):c.459C>T (p.Tyr153=)	BRD2	Single nucleotide variant (synonymous variant)	BRD2-related disorder	GLikely benign
Select item 3049144	NM_005104.4(BRD2):c.472-5C>T	BRD2	Single nucleotide variant (intron variant)	BRD2-related disorder	GLikely benign
Select item 2212554	NM_005104.4(BRD2):c.472C>G (p.Pro158Ala)	BRD2 (P111A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673053	NM_005104.4(BRD2):c.485T>C (p.Ile162Thr)	BRD2 (I115T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748689	NM_005104.4(BRD2):c.489C>T (p.Val163=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770728	NM_005104.4(BRD2):c.611-4C>G	BRD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 743701	NM_005104.4(BRD2):c.612G>A (p.Ala204=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786735	NM_005104.4(BRD2):c.621C>T (p.Gly207=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785805	NM_005104.4(BRD2):c.712C>T (p.Leu238Phe)	BRD2 (L118F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736280	NM_005104.4(BRD2):c.726C>T (p.His242=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3134958	NM_005104.4(BRD2):c.748C>T (p.Leu250Phe)	BRD2 (L250F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474395	NM_005104.4(BRD2):c.775C>T (p.Pro259Ser)	BRD2 (P212S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232520	NM_005104.4(BRD2):c.784C>T (p.Leu262Phe)	BRD2 (L142F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217689	NM_005104.4(BRD2):c.788C>T (p.Ala263Val)	BRD2 (A143V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261700	NM_005104.4(BRD2):c.805C>G (p.Pro269Ala)	BRD2 (P222A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738103	NM_005104.4(BRD2):c.826-6C>T	BRD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 765146	NM_005104.4(BRD2):c.834C>T (p.Gly278=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526113	NM_005104.4(BRD2):c.883G>T (p.Ala295Ser)	BRD2 (A295S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345877	NM_005104.4(BRD2):c.928G>A (p.Ala310Thr)	BRD2 (A263T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350672	NM_005104.4(BRD2):c.934C>T (p.Arg312Trp)	BRD2 (R312W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261706	NM_005104.4(BRD2):c.935G>C (p.Arg312Pro)	BRD2 (R312P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134959	NM_005104.4(BRD2):c.938T>C (p.Leu313Pro)	BRD2 (L193P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207069	NM_005104.4(BRD2):c.948G>C (p.Met316Ile)	BRD2 (M269I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134960	NM_005104.4(BRD2):c.985A>G (p.Lys329Glu)	BRD2 (K282E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261701	NM_005104.4(BRD2):c.1011A>C (p.Gln337His)	BRD2 (Q290H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 794103	NM_005104.4(BRD2):c.1149G>C (p.Leu383=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292047	NM_005104.4(BRD2):c.1181T>A (p.Met394Lys)	BRD2 (M274K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727914	NM_005104.4(BRD2):c.1188C>G (p.Leu396=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738470	NM_005104.4(BRD2):c.1191C>T (p.Ser397=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 741514	NM_005104.4(BRD2):c.1201-7T>C	BRD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2366932	NM_005104.4(BRD2):c.1226G>A (p.Arg409Gln)	BRD2 (R362Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134952	NM_005104.4(BRD2):c.1235A>G (p.Gln412Arg)	BRD2 (Q365R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 95242	NM_005104.4(BRD2):c.1330-4G>C	BRD2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3134953	NM_005104.4(BRD2):c.1375G>C (p.Glu459Gln)	BRD2 (E459Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716867	NM_005104.4(BRD2):c.1395C>T (p.Val465=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256114	NM_005104.4(BRD2):c.1400C>T (p.Thr467Ile)	BRD2 (T420I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055955	NM_005104.4(BRD2):c.1421C>T (p.Ala474Val)	BRD2 (A354V +2 more)	Single nucleotide variant (missense variant +1 more)	BRD2-related disorder	GBenign
Select item 724346	NM_005104.4(BRD2):c.1482GGA[2] (p.Glu497del)	BRD2 (E450del +2 more)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 95243	NM_005104.4(BRD2):c.1497GGA[1] (p.Glu500del)	BRD2 (E500del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 752758	NM_005104.4(BRD2):c.1515A>G (p.Glu505=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 496908	NM_005104.4(BRD2):c.1579-8del	BRD2	Deletion (intron variant)	not specified	GBenign
Select item 2656479	NM_005104.4(BRD2):c.1579-6C>T	BRD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 776593	NM_005104.4(BRD2):c.1599A>G (p.Gln533=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261699	NM_005104.4(BRD2):c.1624A>G (p.Ile542Val)	BRD2 (I542V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715423	NM_005104.4(BRD2):c.1705G>A (p.Ala569Thr)	BRD2 (A522T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3134955	NM_005104.4(BRD2):c.1708G>C (p.Asp570His)	BRD2 (D523H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060697	NM_005104.4(BRD2):c.1710T>C (p.Asp570=)	BRD2	Single nucleotide variant (synonymous variant)	BRD2-related disorder	GBenign
Select item 3261704	NM_005104.4(BRD2):c.1727C>T (p.Pro576Leu)	BRD2 (P456L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261708	NM_005104.4(BRD2):c.1772G>A (p.Ser591Asn)	BRD2 (S591N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720051	NM_005104.4(BRD2):c.1795G>C (p.Ala599Pro)	BRD2 (A479P +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3059565	NM_005104.4(BRD2):c.1809T>C (p.Ser603=)	BRD2	Single nucleotide variant (synonymous variant)	BRD2-related disorder	GBenign
Select item 3261707	NM_005104.4(BRD2):c.1938G>C (p.Glu646Asp)	BRD2 (E526D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750954	NM_005104.4(BRD2):c.2019G>A (p.Glu673=)	BRD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261702	NM_005104.4(BRD2):c.2020C>A (p.Pro674Thr)	BRD2 (P554T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261698	NM_005104.4(BRD2):c.2110C>T (p.Leu704Phe)	BRD2 (L704F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398353	NM_005104.4(BRD2):c.2123G>A (p.Arg708His)	BRD2 (R708H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614117	NM_005104.4(BRD2):c.2132C>T (p.Pro711Leu)	BRD2 (P664L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352605	NM_005104.4(BRD2):c.2253A>G (p.Lys751=)	BRD2	Single nucleotide variant (synonymous variant)	BRD2-related disorder	GLikely benign
Select item 2368505	NM_005104.4(BRD2):c.2257C>A (p.Pro753Thr)	BRD2 (P753T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778338	NM_005104.4(BRD2):c.2296G>A (p.Ala766Thr)	BRD2 (A766T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2378172	NM_005104.4(BRD2):c.2354C>G (p.Ser785Cys)	BRD2 (S738C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558827	NM_005104.4(BRD2):c.2357C>G (p.Ser786Cys)	BRD2 (S666C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531278	NM_005104.4(BRD2):c.2381A>G (p.Asp794Gly)	BRD2 (D794G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607209	NM_005104.4(BRD2):c.2397C>G (p.Asp799Glu)	BRD2 (D752E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2445218	Single allele	BRD2	Deletion	See cases	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 90