ClinVar for Gene (Select 102465861) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 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 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	LOC129999788, LOC129999789 +126 more	Copy number gain	See cases	GPathogenic
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	FAM90A24, FAM90A3 +256 more	Copy number loss	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 153394	GRCh38/hg38 8p23.1(chr8:6356671-6733232)x1	AGPAT5, ANGPT2 +24 more	Copy number loss	See cases	GUncertain significance
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 152254	GRCh38/hg38 8p23.2-23.1(chr8:2605460-7026475)x3	AGPAT5, ANGPT2 +67 more	Copy number gain	See cases	GUncertain significance
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	AGPAT5, ANGPT2 +126 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 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 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	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	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 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	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 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	AGPAT5, ANGPT2 +123 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC126860290, LOC126860291 +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 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	AGPAT5, ANGPT2 +123 more	Copy number gain	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	AGPAT5, ANGPT2 +253 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 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	LOC110121192, LOC110121196 +3656 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 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 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 57380	GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3	AGPAT5, ANGPT2 +54 more	Copy number gain	See cases	GUncertain significance
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 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	LOC126860289, LOC126860290 +773 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 48