BRD9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	LOC132089296, LOC132089297 +139 more	Copy number gain	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	AHRR, BRD9 +172 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149108	GRCh38/hg38 5p15.33(chr5:22149-946680)x1	AHRR, BRD9 +99 more	Copy number loss	See cases	GUncertain significance
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 57919	GRCh38/hg38 5p15.33(chr5:316478-937457)x3	AHRR, BRD9 +84 more	Copy number gain	See cases	GUncertain significance
Select item 148026	GRCh38/hg38 5p15.33(chr5:435846-981479)x3	AHRR, BRD9 +55 more	Copy number gain	See cases	GUncertain significance
Select item 144174	GRCh38/hg38 5p15.33(chr5:710379-889902)x1	BRD9, LOC129993565 +6 more	Copy number loss	See cases	GBenign
Select item 148722	GRCh38/hg38 5p15.33(chr5:821764-1271935)x3	BRD9, LINC02982 +17 more	Copy number gain	See cases	GLikely benign
Select item 2233193	NM_023924.5(BRD9):c.1748A>G (p.Tyr583Cys)	BRD9 (Y582C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322781	NM_023924.5(BRD9):c.1741G>A (p.Asp581Asn)	BRD9 (D603N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261740	NM_023924.5(BRD9):c.1705C>T (p.Arg569Cys)	BRD9 (R516C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134996	NM_023924.5(BRD9):c.1664A>C (p.Asn555Thr)	BRD9 (N554T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489003	NM_023924.5(BRD9):c.1624G>T (p.Gly542Cys)	BRD9 (G489C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261742	NM_023924.5(BRD9):c.1595A>G (p.Gln532Arg)	BRD9 (Q531R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261749	NM_023924.5(BRD9):c.1568A>C (p.Asn523Thr)	BRD9 (N522T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785112	NM_023924.5(BRD9):c.1526-6A>G	BRD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3261743	NM_023924.5(BRD9):c.1502A>C (p.Asp501Ala)	BRD9 (D500A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547725	NM_023924.5(BRD9):c.1423G>C (p.Val475Leu)	BRD9 (V474L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490922	NM_023924.5(BRD9):c.1399A>G (p.Met467Val)	BRD9 (M371V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728823	NM_023924.5(BRD9):c.1272-6C>T	BRD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2395063	NM_023924.5(BRD9):c.1250C>G (p.Thr417Arg)	BRD9 (T416R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261745	NM_023924.5(BRD9):c.1244A>T (p.Asp415Val)	BRD9 (D437V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261744	NM_023924.5(BRD9):c.1243G>A (p.Asp415Asn)	BRD9 (D415N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618746	NM_023924.5(BRD9):c.1125G>C (p.Glu375Asp)	BRD9 (E279D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134995	NM_023924.5(BRD9):c.1106C>T (p.Thr369Met)	BRD9 (T371M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517602	NM_023924.5(BRD9):c.1087C>G (p.Leu363Val)	BRD9 (L413V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373502	NM_023924.5(BRD9):c.1036G>A (p.Ala346Thr)	BRD9 (A345T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220693	NM_023924.5(BRD9):c.1035C>A (p.Asp345Glu)	BRD9 (D249E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466822	NM_023924.5(BRD9):c.988G>A (p.Gly330Arg)	BRD9 (G330R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135001	NM_023924.5(BRD9):c.952C>T (p.Leu318Phe)	BRD9 (L222F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224667	NM_023924.5(BRD9):c.934G>C (p.Asp312His)	BRD9 (D334H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261746	NM_023924.5(BRD9):c.889G>C (p.Glu297Gln)	BRD9 (E244Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296449	NM_023924.5(BRD9):c.886G>A (p.Glu296Lys)	BRD9 (E200K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135000	NM_023924.5(BRD9):c.830T>C (p.Ile277Thr)	BRD9 (I181T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708816	NM_023924.5(BRD9):c.816G>A (p.Pro272=)	BRD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2253466	NM_023924.5(BRD9):c.751G>T (p.Val251Phe)	BRD9 (V155F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368350	NM_023924.5(BRD9):c.737A>G (p.Asn246Ser)	BRD9 (N245S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3261748	NM_023924.5(BRD9):c.694G>A (p.Ala232Thr)	BRD9 (A116T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241185	NM_023924.5(BRD9):c.541A>G (p.Met181Val)	BRD9 (M128V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241028	NM_023924.5(BRD9):c.409G>A (p.Glu137Lys)	BRD9 (E139K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134999	NM_023924.5(BRD9):c.402C>T (p.Ala134=)	BRD9 (P83L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3134998	NM_023924.5(BRD9):c.384G>A (p.Ala128=)	BRD9 (R77H)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3134997	NM_023924.5(BRD9):c.268G>A (p.Glu90Lys)	BRD9 (E90K)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2219114	NM_023924.5(BRD9):c.238C>G (p.Leu80Val)	BRD9 (L80V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349290	NM_023924.5(BRD9):c.172C>T (p.His58Tyr)	BRD9 (H58Y)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3261741	NM_023924.5(BRD9):c.50A>G (p.Glu17Gly)	BRD9 (E17G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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