LINC02249[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 147837	GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3	APBA2, ATP10A +218 more	Copy number gain	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 545163	Single allele	GABRG3, GABRG3-AS1 +228 more	Duplication	Autism	GPathogenic
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 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	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 154724	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4	APBA2, ATP10A +172 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 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 148504	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30361733)x4	LOC130056725, LOC132090298 +170 more	Copy number gain	See cases	GPathogenic
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 57412	GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
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 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	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 57008	GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	TRPM1, APBA2 +61 more	Copy number loss	See cases	GPathogenic
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 149216	GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3	APBA2, ARHGAP11B +52 more	Copy number gain	See cases	GUncertain significance
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 149232	GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3	APBA2, ARHGAP11B +52 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 545175	NC_000015.10:g.(?_28821222)_(30470957_?)del	CHRFAM7A, ENTREP2 +19 more	Deletion	Schizophrenia	GLikely pathogenic
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 545176	Single allele	APBA2, CHRFAM7A +16 more	Duplication	Schizophrenia	GLikely pathogenic
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 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 144260	GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3	APBA2, ARHGAP11B +51 more	Copy number gain	See cases	GUncertain significance
Select item 157338	Single allele	ARHGAP11B, ARHGAP11B-DT +13 more	Deletion	Preeclampsia	Gnot provided
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 1338827	GRCh38/hg38 15q13.2(chr15:30097840-30527284)	CHRFAM7A, GOLGA8R +3 more	Copy number loss	Diaphragmatic hernia	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 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 147133	GRCh38/hg38 15q13.2(chr15:30197607-30491441)x1	CHRFAM7A, GOLGA8R +2 more	Copy number loss	See cases	GBenign

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Items: 40