ClinVar for Gene (Select 29035) - ClinVar

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

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243409	NC_000016.9:g.(?_8829597)_(9923529_?)del	ABAT, CARHSP1 +5 more	Deletion	Landau-Kleffner syndrome	GPathogenic
Select item 3024378	GRCh38/hg38 16p13.2(chr16:8937723-10049200)	LOC130058406, LOC130058407 +33 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2684783	GRCh37/hg19 16p13.2(chr16:9025341-9312106)x3	HAPSTR1, USP7	Copy number gain	not provided	GUncertain significance
Select item 2684781	GRCh37/hg19 16p13.2(chr16:8396405-9479483)x3	ABAT, CARHSP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1703617	GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952)	ABAT, CARHSP1 +8 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GLikely pathogenic
Select item 1526499	GRCh37/hg19 16p13.2(chr16:8969780-9211161)x1	HAPSTR1, USP7	Copy number loss	not specified	GPathogenic
Select item 1526498	GRCh37/hg19 16p13.2(chr16:8959375-9332816)	HAPSTR1, USP7 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526494	GRCh37/hg19 16p13.2(chr16:8862211-9287762)	TMEM186, USP7 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526493	GRCh37/hg19 16p13.2(chr16:8850768-9216009)	ABAT, CARHSP1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	CLEC16A, DEXI +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 1321999	GRCh37/hg19 16p13.2(chr16:8852764-9388125)x3	ABAT, C16orf72 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1003189	NC_000016.9:g.(?_8829577)_(10274288_?)dup	HAPSTR1, ABAT +5 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980568	GRCh37/hg19 16p13.2(chr16:8210270-9471096)x3	TMEM114, PMM2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980566	GRCh37/hg19 16p13.2(chr16:8958907-9232888)x3	CARHSP1, C16orf72 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980565	GRCh37/hg19 16p13.2(chr16:8899460-10058650)x3	USP7, PMM2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 831382	NC_000016.10:g.(?_8735720)_(10180431_?)dup	ABAT, CARHSP1 +5 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 815788	GRCh37/hg19 16p13.2(chr16:8943900-9206744)x3	USP7, CARHSP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 689281	GRCh37/hg19 16p13.2(chr16:8800618-9302688)x3	ABAT, CARHSP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688430	GRCh37/hg19 16p13.2(chr16:8913120-9199036)x3	CARHSP1, HAPSTR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686838	GRCh37/hg19 16p13.2(chr16:8899460-9205868)x3	CARHSP1, HAPSTR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686771	GRCh37/hg19 16p13.2(chr16:8690029-9479483)x4	ABAT, CARHSP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 686434	GRCh37/hg19 16p13.2(chr16:8763909-9274576)x3	ABAT, CARHSP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 684969	GRCh37/hg19 16p13.2(chr16:8913113-9250159)x3	CARHSP1, HAPSTR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625567	GRCh37/hg19 16p13.2(chr16:8839796-9728670)	ABAT, C16orf72 +4 more	Copy number loss	not provided	GPathogenic
Select item 564268	GRCh37/hg19 16p13.2(chr16:8797797-9558289)x3	CARHSP1, TMEM186 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443867	GRCh37/hg19 16p13.2(chr16:8836233-9454914)x3	ABAT, CARHSP1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394020	GRCh37/hg19 16p13.2(chr16:9149992-9210988)x3	HAPSTR1	Copy number gain	See cases	GLikely benign
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253715	GRCh37/hg19 16p13.2(chr16:8875248-9211047)x3	ABAT, USP7 +4 more	Copy number gain	See cases	GUncertain significance
Select item 221873	GRCh37/hg19 16p13.2(chr16:9194963-9356311)x3	HAPSTR1	Copy number gain	Premature ovarian failure	GBenign
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 150852	GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1	ABAT, CARHSP1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 149100	GRCh38/hg38 16p13.2(chr16:8994630-9793745)x3	GRIN2A, HAPSTR1 +21 more	Copy number gain	See cases	GLikely pathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	KNOP1, LAT +851 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59954	GRCh38/hg38 16p13.2(chr16:8831989-9153027)x3	CARHSP1, CARHSP1-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 59953	GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3	ABAT, CARHSP1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 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

Links from Gene

Items: 55