FAM90A11[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	LINC02950, LINC03021 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	AGPAT5, ANGPT2 +256 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	AGPAT5, ANGPT2 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	LOC129999826, LOC129999827 +253 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 148126	GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3	AGPAT5, ANGPT2 +161 more	Copy number gain	See cases	GBenign
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 150028	GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1	AGPAT5, ANGPT2 +259 more	Copy number loss	See cases	GPathogenic
Select item 154894	GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3	DEFA1, DEFA1B +73 more	Copy number gain	See cases	GBenign
Select item 150082	GRCh38/hg38 8p23.1(chr8:7022765-8222390)x1	DEFA5, DEFB103A +50 more	Copy number loss	See cases	GBenign
Select item 150081	GRCh38/hg38 8p23.1(chr8:7022765-8222390)x3	DEFA5, DEFB103A +50 more	Copy number gain	See cases	GBenign
Select item 144149	GRCh38/hg38 8p23.1(chr8:7022782-8222398)x3	DEFA5, DEFB103A +50 more	Copy number gain	See cases	GBenign
Select item 57054	GRCh38/hg38 8p23.1(chr8:7022782-8273167)x1	DEFA5, DEFB103A +56 more	Copy number loss	See cases	GBenign
Select item 149529	GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3	BLK, C8orf74 +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 144272	GRCh38/hg38 8p23.1(chr8:7187864-8222390)x1	FAM90A9, LINC00965 +49 more	Copy number loss	See cases	GBenign
Select item 144218	GRCh38/hg38 8p23.1(chr8:7195664-8273167)x1	DEFB103A, DEFB103B +55 more	Copy number loss	See cases	GBenign
Select item 144178	GRCh38/hg38 8p23.1(chr8:7195664-8222398)x3	DEFB103A, DEFB103B +49 more	Copy number gain	See cases	GBenign
Select item 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	BLK, C8orf74 +258 more	Copy number loss	See cases	GPathogenic
Select item 32069	GRCh38/hg38 8p23.1(chr8:7195664-8222398)x1	DEFB103A, DEFB103B +49 more	Copy number loss	See cases	GBenign
Select item 154334	GRCh38/hg38 8p23.1(chr8:7195674-8222390)x1	DEFB103A, DEFB103B +49 more	Copy number loss	See cases	GBenign
Select item 146770	GRCh38/hg38 8p23.1(chr8:7195674-8273109)x1	DEFB103A, DEFB103B +55 more	Copy number loss	See cases	GBenign
Select item 144638	GRCh38/hg38 8p23.1(chr8:7217074-8070470)x1	DEFB109B, DEFB4A +47 more	Copy number loss	See cases	GBenign
Select item 144542	GRCh38/hg38 8p23.1(chr8:7217074-8222390)x1	DEFB103A, DEFB103B +49 more	Copy number loss	See cases	GBenign
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 144621	GRCh38/hg38 8p23.1(chr8:7253289-8034272)x1	DEFB103A, DEFB103B +46 more	Copy number loss	See cases	GBenign
Select item 144607	GRCh38/hg38 8p23.1(chr8:7253289-8222390)x1	DEFB103A, DEFB103B +48 more	Copy number loss	See cases	GBenign
Select item 144533	GRCh38/hg38 8p23.1(chr8:7253289-8023794)x1	DEFB103A, DEFB103B +45 more	Copy number loss	See cases	GBenign
Select item 154342	GRCh38/hg38 8p23.1(chr8:7256134-8188790)x1	DEFB103A, DEFB103B +48 more	Copy number loss	See cases	GBenign
Select item 144645	GRCh38/hg38 8p23.1(chr8:7256134-8222390)x1	DEFB103A, DEFB103B +48 more	Copy number loss	See cases	GBenign
Select item 144530	GRCh38/hg38 8p23.1(chr8:7256134-8023794)x1	DEFB103A, DEFB103B +45 more	Copy number loss	See cases	GBenign
Select item 144529	GRCh38/hg38 8p23.1(chr8:7256134-8023794)x3	DEFB103A, DEFB103B +45 more	Copy number gain	See cases	GBenign
Select item 148105	GRCh38/hg38 8p23.1(chr8:7256139-8222398)x1	DEFB103A, DEFB103B +48 more	Copy number loss	See cases	GBenign
Select item 153029	GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3	DEFB103A, DEFB103B +42 more	Copy number gain	See cases	GBenign
Select item 147315	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1	BLK, C8orf74 +255 more	Copy number loss	See cases	GPathogenic
Select item 147314	GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3	BLK, C8orf74 +255 more	Copy number gain	See cases	GPathogenic
Select item 144397	GRCh38/hg38 8p23.1(chr8:7311968-8222398)x1	DEFB103A, DEFB103B +42 more	Copy number loss	See cases	GBenign
Select item 144396	GRCh38/hg38 8p23.1(chr8:7311968-8222398)x3	DEFB103A, DEFB103B +42 more	Copy number gain	See cases	GBenign
Select item 144270	GRCh38/hg38 8p23.1(chr8:7311968-8237251)x1	DEFB103A, DEFB103B +45 more	Copy number loss	See cases	GBenign
Select item 154431	GRCh38/hg38 8p23.1(chr8:7311988-8273109)x3	FAM90A17, FAM90A18 +48 more	Copy number gain	See cases	GBenign
Select item 154363	GRCh38/hg38 8p23.1(chr8:7311988-8222390)x1	DEFB103A, DEFB103B +42 more	Copy number loss	See cases	GBenign
Select item 154362	GRCh38/hg38 8p23.1(chr8:7311988-8222390)x3	DEFB103A, DEFB103B +42 more	Copy number gain	See cases	GBenign
Select item 144653	GRCh38/hg38 8p23.1(chr8:7311988-8023794)x1	DEFB103A, DEFB103B +39 more	Copy number loss	See cases	GBenign
Select item 147212	GRCh38/hg38 8p23.1(chr8:7311998-8222368)x1	DEFB103A, DEFB103B +42 more	Copy number loss	See cases	GBenign
Select item 147211	GRCh38/hg38 8p23.1(chr8:7311998-8222368)x3	DEFB103A, DEFB103B +42 more	Copy number gain	See cases	GBenign
Select item 146959	GRCh38/hg38 8p23.1(chr8:7311998-8222369)x1	DEFB103A, DEFB103B +42 more	Copy number loss	See cases	GBenign
Select item 144561	GRCh38/hg38 8p23.1(chr8:7330224-8023794)x3	DEFB103A, DEFB103B +38 more	Copy number gain	See cases	GBenign
Select item 154327	GRCh38/hg38 8p23.1(chr8:7381949-8222390)x1	DEFB103A, DEFB103B +36 more	Copy number loss	See cases	GBenign
Select item 154326	GRCh38/hg38 8p23.1(chr8:7381949-8222390)x3	DEFB103A, DEFB103B +36 more	Copy number gain	See cases	GBenign
Select item 149988	GRCh38/hg38 8p23.1(chr8:7381949-8273109)x3	DEFB103A, DEFB103B +42 more	Copy number gain	See cases	GBenign
Select item 149667	GRCh38/hg38 8p23.1(chr8:7381949-8364508)x3	DEFB103A, DEFB103B +49 more	Copy number gain	See cases	GBenign
Select item 152994	GRCh38/hg38 8p23.1(chr8:7381969-8222339)x1	DEFB103A, DEFB103B +36 more	Copy number loss	See cases	GBenign
Select item 144495	GRCh38/hg38 8p23.1(chr8:7381969-8222398)x1	DEFB103A, DEFB103B +36 more	Copy number loss	See cases	GBenign
Select item 144494	GRCh38/hg38 8p23.1(chr8:7381969-8222398)x3	DEFB103A, DEFB103B +36 more	Copy number gain	See cases	GBenign
Select item 144483	GRCh38/hg38 8p23.1(chr8:7381969-8273167)x1	DEFB103A, DEFB103B +42 more	Copy number loss	See cases	GBenign
Select item 147088	GRCh38/hg38 8p23.1(chr8:7381998-8222368)x1	DEFB103A, DEFB103B +36 more	Copy number loss	See cases	GBenign
Select item 161012	GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1	DEFB103A, DEFB103B +35 more	Copy number loss	See cases	GBenign
Select item 161011	GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3	DEFB103A, DEFB103B +35 more	Copy number gain	See cases	GBenign
Select item 144323	GRCh38/hg38 8p23.1(chr8:7411297-8429785)x1	DEFB103A, DEFB103B +51 more	Copy number loss	See cases	GBenign
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	LOC129999842, LOC129999843 +232 more	Copy number loss	See cases	GPathogenic
Select item 57482	GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3	BLK, C8orf74 +241 more	Copy number gain	See cases	GPathogenic
Select item 57104	GRCh38/hg38 8p23.1(chr8:7411297-8273167)x1	DEFB103A, DEFB103B +41 more	Copy number loss	See cases	GBenign
Select item 57103	GRCh38/hg38 8p23.1(chr8:7411297-8273167)x3	DEFB103A, DEFB103B +41 more	Copy number gain	See cases	GBenign
Select item 33118	GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3	DEFB103A, DEFB103B +35 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 32007	GRCh38/hg38 8p23.1(chr8:7411297-8222398)x1	DEFB103A, DEFB103B +35 more	Copy number loss	See cases	GBenign
Select item 149843	GRCh38/hg38 8p23.1(chr8:7411303-8273109)x3	DEFB103A, DEFB103B +41 more	Copy number gain	See cases	GBenign
Select item 146872	GRCh38/hg38 8p23.1(chr8:7411303-8222390)x3	DEFB103A, DEFB103B +35 more	Copy number gain	See cases	GBenign
Select item 146761	GRCh38/hg38 8p23.1(chr8:7411303-8364508)x3	DEFB103A, DEFB103B +48 more	Copy number gain	See cases	GBenign
Select item 145346	GRCh38/hg38 8p23.1(chr8:7512656-8222390)x3	DEFB103A, DEFB104A +28 more	Copy number gain	See cases	GBenign
Select item 145345	GRCh38/hg38 8p23.1(chr8:7512656-8222390)x1	DEFB103A, DEFB104A +28 more	Copy number loss	See cases	GBenign
Select item 161070	GRCh38/hg38 8p23.1(chr8:7514108-8222398)x3	DEFB103A, DEFB104A +28 more	Copy number gain	See cases	GBenign
Select item 144198	GRCh38/hg38 8p23.1(chr8:7514108-8222398)x1	DEFB103A, DEFB104A +28 more	Copy number loss	See cases	GBenign
Select item 151040	GRCh38/hg38 8p23.1(chr8:7546074-8222390)x3	DEFB103A, DEFB104A +27 more	Copy number gain	See cases	GBenign
Select item 144527	GRCh38/hg38 8p23.1(chr8:7546100-8222398)x1	DEFB103A, DEFB104A +27 more	Copy number loss	See cases	GBenign
Select item 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 92