LOC129999912[gene] - ClinVar

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Search results

Items: 53

	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	LOC126860438, LOC126860439 +3663 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 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 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	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 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 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 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 59322	GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1	LOC129999906, LOC129999907 +258 more	Copy number loss	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
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 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +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 144766	GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3	BLK, C8orf74 +217 more	Copy number gain	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 148798	GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3	BLK, C8orf74 +199 more	Copy number gain	See cases	GLikely pathogenic
Select item 144130	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	FAM85B, FAM86B1 +205 more	Copy number loss	See cases	GPathogenic
Select item 57060	GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1	BLK, C8orf74 +208 more	Copy number loss	See cases	GPathogenic
Select item 155213	GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3	BLK, C8orf74 +196 more	Copy number gain	See cases	GPathogenic
Select item 155289	GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1	BLK, C8orf74 +196 more	Copy number loss	See cases	GPathogenic
Select item 153672	GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1	BLK, C8orf74 +195 more	Copy number loss	See cases	GPathogenic
Select item 149562	GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1	BLK, C8orf74 +193 more	Copy number loss	See cases	GPathogenic
Select item 148431	GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1	BLK, C8orf74 +207 more	Copy number loss	See cases	GPathogenic
Select item 161001	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3	BLK, C8orf74 +189 more	Copy number gain	See cases	GPathogenic
Select item 154643	GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1	BLK, C8orf74 +206 more	Copy number loss	See cases	GPathogenic
Select item 146493	GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1	BLK, C8orf74 +201 more	Copy number loss	See cases	GPathogenic
Select item 146455	GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1	BLK, C8orf74 +189 more	Copy number loss	See cases	GPathogenic
Select item 145585	GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3	PPP1R3B, PPP1R3B-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 59640	GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3	BLK, C8orf74 +188 more	Copy number gain	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 59638	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3	BLK, C8orf74 +187 more	Copy number gain	See cases	GPathogenic
Select item 58400	GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3	LOC129999854, LOC129999855 +122 more	Copy number gain	See cases	GPathogenic
Select item 152255	GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3	BLK, C8orf74 +116 more	Copy number gain	See cases	GUncertain significance
Select item 57156	GRCh38/hg38 8p23.1(chr8:11112581-11948451)x3	LOC129999890, LOC129999891 +88 more	Copy number gain	See cases	GUncertain significance
Select item 152873	GRCh38/hg38 8p23.1(chr8:11440972-11984333)x3	BLK, CTSB +67 more	Copy number gain	See cases	GPathogenic
Select item 151753	GRCh38/hg38 8p23.1(chr8:11794524-12041471)x1	CTSB, DEFB134 +21 more	Copy number loss	See cases	GUncertain significance
Select item 599353	NC_000008.10:g.11667760_11787743del119984	CTSB, FDFT1 +10 more	Deletion	Squalene synthase deficiency	GLikely pathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic

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Items: 53