GABRG3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 334

<< First< Prev

Page of 4

	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 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 58536	GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3	ATP10A, ATP10A-DT +188 more	Copy number gain	See cases	GPathogenic
Select item 58539	GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3	ATP10A, ATP10A-DT +192 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 59369	GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3	ATP10A, ATP10A-DT +195 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 151934	GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3	ATP10A, ATP10A-DT +182 more	Copy number gain	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 58577	GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1	APBA2, ATP10A +197 more	Copy number loss	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 160796	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 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 154646	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3	ATP10A, ATP10A-DT +171 more	Copy number gain	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 151535	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 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 146448	GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1	ATP10A, ATP10A-DT +171 more	Copy number loss	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 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 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 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 545163	Single allele	GABRG3, GABRG3-AS1 +228 more	Duplication	Autism	GPathogenic
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 3250355	NC_000015.10:g.(?_22786657)_(28299516_?)dup	SNORD115-26, SNORD115-27 +162 more	Duplication	15q11q13 microduplication syndrome	GLikely pathogenic
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 545171	Single allele	SNORD116-28, SNORD116-29 +153 more	Duplication	Schizophrenia	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 2663786	NC_000015.10:g.(?_23319714)_(28314256_?)del	GABRA5, PWRN4 +143 more	Deletion	Angelman 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 160970	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1	ATP10A, ATP10A-DT +143 more	Copy number loss	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 154724	GRCh38/hg38 15q11.2-13.2(chr15:23319714-30527306)x4	APBA2, ATP10A +172 more	Copy number gain	See cases	GPathogenic
Select item 154699	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1	ATP10A, ATP10A-DT +143 more	Copy number loss	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 150806	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3	APBA2, CHRFAM7A +205 more	Copy number gain	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 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 148005	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x4	ATP10A, ATP10A-DT +143 more	Copy number gain	See cases	GPathogenic
Select item 148004	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x3	ATP10A, ATP10A-DT +143 more	Copy number gain	See cases	GPathogenic
Select item 147648	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1	ATP10A, ATP10A-DT +143 more	Copy number loss	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 146597	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1	HERC2, IPW +143 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 146185	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3	GOLGA6L2, ATP10A +143 more	Copy number gain	See cases	GPathogenic
Select item 144600	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28347620)x1	ATP10A, ATP10A-DT +143 more	Copy number loss	See cases	GPathogenic
Select item 144586	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275170)x3	ATP10A, ATP10A-DT +143 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 59390	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x3	ATP10A, ATP10A-DT +143 more	Copy number gain	See cases	GPathogenic
Select item 58585	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28197267)x1	GOLGA6L2, ATP10A +142 more	Copy number loss	See cases	GPathogenic
Select item 58584	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1	SNORD116-22, SNORD116-23 +143 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 58579	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x1	ATP10A, ATP10A-DT +142 more	Copy number loss	See cases	GPathogenic
Select item 58578	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28190742)x3	ATP10A, ATP10A-DT +142 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 57364	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28314256)x1	ATP10A, ATP10A-DT +143 more	Copy number loss	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
Select item 32126	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28275167)x1	ATP10A, ATP10A-DT +143 more	Copy number loss	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 155635	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28294829)x1	ATP10A, ATP10A-DT +143 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 154083	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315951)x1	SNORD116-25, SNORD116-26 +143 more	Copy number loss	See cases	GPathogenic
Select item 153934	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300358)x1	ATP10A, ATP10A-DT +143 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 153815	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28315123)x1	ATP10A, ATP10A-DT +143 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 152316	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28300209)x1	ATP10A, ATP10A-DT +143 more	Copy number loss	See cases	GPathogenic
Select item 151937	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x3	ATP10A, ATP10A-DT +142 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 145987	GRCh38/hg38 15q11.2-13.1(chr15:23328044-28154050)x1	ATP10A, ATP10A-DT +142 more	Copy number loss	See cases	GPathogenic
Select item 58599	GRCh38/hg38 15q11.2-13.1(chr15:23337069-28272443)x1	ATP10A, ATP10A-DT +142 more	Copy number loss	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 153630	GRCh38/hg38 15q11.2-13.1(chr15:23370621-28414765)x1	ATP10A, ATP10A-DT +144 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 4