HAPSTR1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
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 59953	GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3	ABAT, CARHSP1 +42 more	Copy number gain	See cases	GUncertain significance
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 3024378	GRCh38/hg38 16p13.2(chr16:8937723-10049200)	LOC130058406, LOC130058407 +33 more	Copy number loss	Autism spectrum disorder	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 3243409	NC_000016.9:g.(?_8829597)_(9923529_?)del	ABAT, CARHSP1 +5 more	Deletion	Landau-Kleffner syndrome	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	ABAT, ATF7IP2 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
Select item 1003189	NC_000016.9:g.(?_8829577)_(10274288_?)dup	ABAT, CARHSP1 +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 831382	NC_000016.10:g.(?_8735720)_(10180431_?)dup	ABAT, CARHSP1 +5 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	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 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 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

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Items: 47