ClinVar for Gene (Select 283768) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	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 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	GPathogenic
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 545174	Single allele	LOC125078051, LOC125078052 +19 more	Duplication	Autism	GLikely pathogenic
Select item 545173	Single allele	LOC129390676, SNORD115-38 +151 more	Duplication	Autism	GPathogenic
Select item 545172	Single allele	SNORD116-28, SNORD116-29 +150 more	Duplication	Schizophrenia	GPathogenic
Select item 545171	Single allele	SNORD116-28, SNORD116-29 +153 more	Duplication	Schizophrenia	GPathogenic
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 155586	GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3	APBA2, ARHGAP11B +205 more	Copy number gain	See cases	GPathogenic
Select item 155412	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28713633)x3	ATP10A, ATP10A-DT +151 more	Copy number gain	See cases	GPathogenic
Select item 155312	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30094350)x4	APBA2, ATP10A +167 more	Copy number gain	See cases	GPathogenic
Select item 155224	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28683584)x4	ATP10A, ATP10A-DT +150 more	Copy number gain	See cases	GPathogenic
Select item 155159	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30023809)x1	APBA2, ATP10A +166 more	Copy number loss	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 154455	GRCh38/hg38 15q13.1-13.2(chr15:28446255-30073921)x1	APBA2, ENTREP2 +17 more	Copy number loss	See cases	GUncertain significance
Select item 154084	GRCh38/hg38 15q11.2-13.1(chr15:23370621-28578576)x1	GOLGA6L2, ATP10A +148 more	Copy number loss	See cases	GPathogenic
Select item 153771	GRCh38/hg38 15q11.2-13.2(chr15:23328044-30077815)x1	APBA2, ATP10A +166 more	Copy number loss	See cases	GPathogenic
Select item 153283	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28836775)x1	ATP10A, ATP10A-DT +151 more	Copy number loss	See cases	GPathogenic
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 151766	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28578576)x1	ATP10A, ATP10A-DT +150 more	Copy number loss	See cases	GPathogenic
Select item 151222	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28638603)x4	ATP10A, ATP10A-DT +150 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 148557	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4	APBA2, ATP10A +166 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 147960	GRCh38/hg38 15q11.2-13.1(chr15:23462305-28694952)x3	SNORD115-23, SNORD115-24 +147 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 147288	GRCh38/hg38 15q13.1(chr15:28446255-28785371)x3	GOLGA6L25, GOLGA8G +2 more	Copy number gain	See cases	GBenign
Select item 146726	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30073876)x4	APBA2, ATP10A +166 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 146449	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x4	APBA2, ATP10A +166 more	Copy number gain	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 145496	GRCh38/hg38 15q13.1(chr15:28314232-28840742)x1	GOLGA6L24, GOLGA6L25 +7 more	Copy number loss	See cases	GLikely benign
Select item 145322	GRCh38/hg38 15q11.2-13.1(chr15:23462288-28694922)x1	ATP10A, ATP10A-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 59391	GRCh38/hg38 15q11.2-13.1(chr15:23319714-30073921)x3	APBA2, ATP10A +166 more	Copy number gain	See cases	GPathogenic
Select item 58581	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30109283)x1	APBA2, ATP10A +167 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 58574	GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1	ATP10A, ATP10A-DT +182 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 58532	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4	SNORD115-26, SNORD115-27 +201 more	Copy number gain	See cases	GPathogenic
Select item 58531	GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3	APBA2, ATP10A +203 more	Copy number gain	See cases	GPathogenic
Select item 58070	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28681287)x3	ATP10A, ATP10A-DT +150 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 57008	GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	TRPM1, APBA2 +61 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 52