DEFB107A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384213	Single allele	AGPAT5, ANGPT2 +180 more	Deletion	Recombinant 8 syndrome	GPathogenic
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	LOC126860438, LOC126860439 +3663 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	LOC129999827, LOC129999828 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	LOC101929290, LOC102723313 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	LOC123987611, LOC123987612 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 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	LOC129999940, LOC129999941 +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	LOC101929290, LOC102723313 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +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	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +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 144236	GRCh38/hg38 8p23.1(chr8:7022782-7895064)x1	DEFA5, DEFB103A +41 more	Copy number loss	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	DEFB103B, DEFB104A +256 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150441	GRCh38/hg38 8p23.1(chr8:7142958-7895074)x3	DEFB103A, DEFB103B +40 more	Copy number gain	See cases	GBenign
Select item 144272	GRCh38/hg38 8p23.1(chr8:7187864-8222390)x1	FAM90A9, LINC00965 +49 more	Copy number loss	See cases	GBenign
Select item 144428	GRCh38/hg38 8p23.1(chr8:7195664-7948707)x1	DEFB105A, DEFB105B +41 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 144184	GRCh38/hg38 8p23.1(chr8:7195664-7834438)x1	DEFB103B, DEFB104B +36 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	LOC129999906, LOC129999907 +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 31972	GRCh38/hg38 8p23.1(chr8:7195664-7895064)x1	DEFB103A, DEFB103B +40 more	Copy number loss	See cases	GBenign
Select item 154409	GRCh38/hg38 8p23.1(chr8:7195674-7948705)x1	DEFB103A, DEFB103B +41 more	Copy number loss	See cases	GBenign
Select item 154354	GRCh38/hg38 8p23.1(chr8:7195674-7895074)x1	DEFB103A, DEFB103B +40 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 145464	GRCh38/hg38 8p23.1(chr8:7195674-7834323)x1	DEFB103B, DEFB104B +36 more	Copy number loss	See cases	GBenign
Select item 150887	GRCh38/hg38 8p23.1(chr8:7205665-7948701)x3	DEFB103A, DEFB103B +41 more	Copy number gain	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 154780	GRCh38/hg38 8p23.1(chr8:7256137-7981415)x1	DEFB103A, DEFB103B +43 more	Copy number loss	See cases	GBenign
Select item 149804	GRCh38/hg38 8p23.1(chr8:7256137-7948701)x3	DEFB103A, DEFB103B +40 more	Copy number gain	See cases	GBenign
Select item 149803	GRCh38/hg38 8p23.1(chr8:7256137-7948701)x1	DEFB103A, DEFB103B +40 more	Copy number loss	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 154906	GRCh38/hg38 8p23.1(chr8:7300731-7948701)x1	DEFB103A, DEFB103B +34 more	Copy number loss	See cases	GBenign
Select item 150403	GRCh38/hg38 8p23.1(chr8:7300731-7981415)x3	DEFB103A, DEFB103B +37 more	Copy number gain	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	LOC129999824, LOC129999825 +255 more	Copy number gain	See cases	GPathogenic
Select item 144493	GRCh38/hg38 8p23.1(chr8:7311968-7895064)x1	DEFB103A, DEFB103B +33 more	Copy number loss	See cases	GBenign
Select item 144492	GRCh38/hg38 8p23.1(chr8:7311968-7895064)x3	DEFB103A, DEFB103B +33 more	Copy number gain	See cases	GBenign
Select item 144435	GRCh38/hg38 8p23.1(chr8:7311968-7834438)x1	DEFB103B, DEFB104B +29 more	Copy number loss	See cases	GBenign
Select item 144434	GRCh38/hg38 8p23.1(chr8:7311968-7834438)x3	DEFB103B, DEFB104B +29 more	Copy number gain	See cases	GBenign
Select item 144412	GRCh38/hg38 8p23.1(chr8:7311968-7948707)x1	DEFB103A, DEFB103B +34 more	Copy number loss	See cases	GBenign
Select item 144411	GRCh38/hg38 8p23.1(chr8:7311968-7948707)x3	DEFB103A, DEFB103B +34 more	Copy number gain	See cases	GBenign
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 154404	GRCh38/hg38 8p23.1(chr8:7311988-7948705)x1	DEFB103A, DEFB103B +34 more	Copy number loss	See cases	GBenign
Select item 154403	GRCh38/hg38 8p23.1(chr8:7311988-7948705)x3	DEFB103A, DEFB103B +34 more	Copy number gain	See cases	GBenign
Select item 154364	GRCh38/hg38 8p23.1(chr8:7311988-7895074)x3	DEFB103A, DEFB103B +33 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 154359	GRCh38/hg38 8p23.1(chr8:7311988-7834323)x3	DEFB103B, DEFB104B +29 more	Copy number gain	See cases	GBenign
Select item 154355	GRCh38/hg38 8p23.1(chr8:7311988-7834323)x1	DEFB103B, DEFB104B +29 more	Copy number loss	See cases	GBenign
Select item 154336	GRCh38/hg38 8p23.1(chr8:7311988-7895074)x1	DEFB103A, DEFB103B +33 more	Copy number loss	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 147247	GRCh38/hg38 8p23.1(chr8:7311998-7921714)x3	DEFB103A, DEFB103B +33 more	Copy number gain	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 146989	GRCh38/hg38 8p23.1(chr8:7311998-7929893)x3	DEFB103A, DEFB103B +34 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 149776	GRCh38/hg38 8p23.1(chr8:7381948-7948701)x1	DEFB103A, DEFB103B +28 more	Copy number loss	See cases	GBenign
Select item 154427	GRCh38/hg38 8p23.1(chr8:7381949-7948705)x1	DEFB103A, DEFB103B +28 more	Copy number loss	See cases	GBenign
Select item 154367	GRCh38/hg38 8p23.1(chr8:7381949-7895074)x1	DEFB103A, DEFB103B +27 more	Copy number loss	See cases	GBenign

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