ClinVar for Gene (Select 26082) - ClinVar

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

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	GPathogenic
Select item 1338827	GRCh38/hg38 15q13.2(chr15:30097840-30527284)	CHRFAM7A, GOLGA8R +3 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 545176	Single allele	APBA2, CHRFAM7A +16 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545175	NC_000015.10:g.(?_28821222)_(30470957_?)del	CHRFAM7A, ENTREP2 +19 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545163	Single allele	GABRG3, GABRG3-AS1 +228 more	Duplication	Autism	GPathogenic
Select item 160989	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x3	APBA2, ATP10A +170 more	Copy number gain	See cases	GPathogenic
Select item 157338	Single allele	ARHGAP11B, ARHGAP11B-DT +13 more	Deletion	Preeclampsia	Gnot provided
Select item 155586	GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3	APBA2, ARHGAP11B +205 more	Copy number gain	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 154724	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4	APBA2, ATP10A +172 more	Copy number gain	See cases	GPathogenic
Select item 154620	GRCh38/hg38 15q13.1-13.2(chr15:28840698-30361733)x3	APBA2, CHRFAM7A +17 more	Copy number gain	See cases	GUncertain significance
Select item 153169	GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3	ARHGAP11B, ARHGAP11B-DT +37 more	Copy number gain	See cases	GUncertain significance
Select item 151938	GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	APBA2, ARHGAP11A +264 more	Copy number gain	See cases	GPathogenic
Select item 150806	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3	APBA2, CHRFAM7A +205 more	Copy number gain	See cases	GPathogenic
Select item 150590	GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1	APBA2, ARHGAP11B +52 more	Copy number loss	See cases	GPathogenic
Select item 150213	GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3	APBA2, ARHGAP11B +190 more	Copy number gain	See cases	GPathogenic
Select item 149631	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 149258	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1	APBA2, ARHGAP11B +205 more	Copy number loss	See cases	GPathogenic
Select item 149232	GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3	APBA2, ARHGAP11B +52 more	Copy number gain	See cases	GUncertain significance
Select item 149216	GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3	APBA2, ARHGAP11B +52 more	Copy number gain	See cases	GUncertain significance
Select item 148883	GRCh38/hg38 15q13.1-13.2(chr15:28694893-30785630)x3	APBA2, ARHGAP11B +29 more	Copy number gain	See cases	GPathogenic
Select item 148504	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4	LOC130056725, LOC132090298 +170 more	Copy number gain	See cases	GPathogenic
Select item 147837	GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3	APBA2, ATP10A +218 more	Copy number gain	See cases	GPathogenic
Select item 147133	GRCh38/hg38 15q13.2(chr15:30197607-30491441)x1	CHRFAM7A, GOLGA8R +2 more	Copy number loss	See cases	GBenign
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 146447	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30361733)x4	LOC126862086, LOC126862087 +170 more	Copy number gain	See cases	GPathogenic
Select item 144260	GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3	APBA2, ARHGAP11B +51 more	Copy number gain	See cases	GUncertain significance
Select item 58650	GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1	ARHGAP11A-DT, ARHGAP11B +43 more	Copy number loss	See cases	GPathogenic
Select item 58636	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1	APBA2, ARHGAP11B +51 more	Copy number loss	See cases	GPathogenic
Select item 58577	GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1	APBA2, ATP10A +197 more	Copy number loss	See cases	GPathogenic
Select item 58569	GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3	APBA2, ARHGAP11B +254 more	Copy number gain	See cases	GPathogenic
Select item 58568	GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3	APBA2, ATP10A +219 more	Copy number gain	See cases	GPathogenic
Select item 57602	GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3	ARHGAP11B, ARHGAP11B-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 57600	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3	APBA2, ARHGAP11A-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 57599	GRCh38/hg38 15q13.1-13.2(chr15:28819080-30361669)x3	APBA2, CHRFAM7A +17 more	Copy number gain	See cases	GUncertain significance
Select item 57412	GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
Select item 57008	GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	TRPM1, APBA2 +61 more	Copy number loss	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: 40