ClinVar for Gene (Select 100616228) - ClinVar

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

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	GABRA5, GOLGA6L26 +170 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
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 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 160971	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	SNORD107, SNORD108 +171 more	Copy number gain	See cases	GPathogenic
Select item 160969	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1	ATP10A, ATP10A-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 160796	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 more	Copy number loss	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 155416	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28478308)x1	ATP10A, ATP10A-DT +147 more	Copy number loss	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 155118	GRCh38/hg38 15q11.2-13.1(chr15:23422864-28460005)x1	SNORD115-48, SNORD115-5 +145 more	Copy number loss	See cases	GPathogenic
Select item 155116	GRCh38/hg38 15q11.2-13.1(chr15:23422864-28446314)x1	ATP10A, ATP10A-DT +145 more	Copy number loss	See cases	GPathogenic
Select item 154728	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 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 154646	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	ATP10A, ATP10A-DT +171 more	Copy number gain	See cases	GPathogenic
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 153884	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28464569)x1	ATP10A, ATP10A-DT +147 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 152733	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 more	Copy number loss	See cases	GPathogenic
Select item 152290	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	ATP10A, ATP10A-DT +171 more	Copy number gain	See cases	GPathogenic
Select item 152057	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1	ATP10A, ATP10A-DT +147 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 151535	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 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 150488	GRCh38/hg38 15q11.2-13.1(chr15:23410917-28446301)x1	ATP10A, ATP10A-DT +145 more	Copy number loss	See cases	GPathogenic
Select item 150279	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446301)x3	ATP10A, ATP10A-DT +147 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 150178	GRCh38/hg38 15q13.1(chr15:28314232-28459561)x3	GOLGA6L24, GOLGA8F +3 more	Copy number gain	See cases	GLikely benign
Select item 149915	GRCh38/hg38 15q11.2-13.1(chr15:23462288-28446301)x1	ATP10A, ATP10A-DT +144 more	Copy number loss	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 149075	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	ATP10A, ATP10A-DT +171 more	Copy number gain	See cases	GPathogenic
Select item 149074	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4	ATP10A, ATP10A-DT +171 more	Copy number gain	See cases	GPathogenic
Select item 148881	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4	ATP10A, ATP10A-DT +171 more	Copy number gain	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 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 146448	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 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 146278	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4	SNORD116-20, SNORD116-21 +171 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 145368	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	GABRG3-AS1, GOLGA6L1 +171 more	Copy number gain	See cases	GPathogenic
Select item 145366	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 more	Copy number loss	See cases	GPathogenic
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 144613	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 more	Copy number loss	See cases	GPathogenic
Select item 144122	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4	ATP10A, ATP10A-DT +171 more	Copy number gain	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 58627	GRCh38/hg38 15q11.2-13.1(chr15:23450287-28446314)x1	ATP10A, ATP10A-DT +144 more	Copy number loss	See cases	GPathogenic
Select item 58607	GRCh38/hg38 15q11.2-13.1(chr15:23398620-28446314)x1	ATP10A, ATP10A-DT +145 more	Copy number loss	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 58071	GRCh38/hg38 15q11.2-13.1(chr15:23320410-28460005)x3	ATP10A, ATP10A-DT +147 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
Select item 33590	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 more	Copy number loss	See cases	GPathogenic
Select item 33584	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	ATP10A, ATP10A-DT +171 more	Copy number gain	See cases	GPathogenic
Select item 32878	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28446314)x1	SNORD115-24, SNORD115-25 +147 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: 82