NIPA1[gene] - ClinVar - NCBI

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	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 2579285	GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1	ATP10A, ATP10A-DT +163 more	Copy number loss	Angelman syndrome	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 155531	GRCh38/hg38 15q11.2(chr15:22358243-23102647)x1	CYFIP1, GOLGA6L22 +19 more	Copy number loss	See cases	GUncertain significance
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 146905	GRCh38/hg38 15q11.2(chr15:22358243-23006180)x3	CYFIP1, GOLGA6L22 +19 more	Copy number gain	See cases	GBenign
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 57530	GRCh38/hg38 15q11.2(chr15:22358243-23066575)x1	CYFIP1, GOLGA6L22 +19 more	Copy number loss	See cases	GUncertain significance
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	APBA2, ARHGAP11B +228 more	Duplication	Autism	GPathogenic
Select item 545164	NC_000015.10:g.(?_22444190)_(23226874_?)del	CYFIP1, GOLGA6L1 +21 more	Deletion	Autism +1 more	GPathogenic
Select item 144603	GRCh38/hg38 15q11.2(chr15:22469457-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GBenign
Select item 57534	GRCh38/hg38 15q11.2(chr15:22484473-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 2663903	GRCh38/hg38 15q11.2(chr15:22542702-23121344)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 57533	GRCh38/hg38 15q11.2(chr15:22559691-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 545165	NC_000015.10:g.(?_22570470)_(23226874_?)del	CYFIP1, GOLGA6L1 +20 more	Deletion	Autism	GPathogenic
Select item 145422	GRCh38/hg38 15q11.2(chr15:22572783-23107431)x3	CYFIP1, LOC112272575 +18 more	Copy number gain	See cases	GBenign
Select item 145421	GRCh38/hg38 15q11.2(chr15:22572783-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 146154	GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3	CYFIP1, LOC112272575 +18 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 144192	GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GConflicting classifications of pathogenicity
Select item 57522	GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 32067	GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1	CYFIP1, GOLGA6L1 +19 more	Copy number loss	See cases	GUncertain significance
Select item 145041	GRCh38/hg38 15q11.2(chr15:22572858-23012211)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 145040	GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3	CYFIP1, LOC112272575 +18 more	Copy number gain	See cases	GLikely benign
Select item 155485	GRCh38/hg38 15q11.2(chr15:22581937-23102647)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 153914	GRCh38/hg38 15q11.2(chr15:22582277-23102647)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 153897	GRCh38/hg38 15q11.2(chr15:22590191-23102647)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 155215	GRCh38/hg38 15q11.2(chr15:22590297-23102647)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 155651	GRCh38/hg38 15q11.2(chr15:22591732-23102647)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 153979	GRCh38/hg38 15q11.2(chr15:22595661-23102647)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 154973	GRCh38/hg38 15q11.2(chr15:22612562-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	PWRN3, PWRN4 +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 144292	GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GBenign
Select item 144203	GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GBenign
Select item 149421	GRCh38/hg38 15q11.2(chr15:22623415-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 57531	GRCh38/hg38 15q11.2(chr15:22632213-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3024383	GRCh38/hg38 15q11.2(chr15:22633497-23084434)	CYFIP1, LOC112272575 +18 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 161081	GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 161072	GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 148119	GRCh38/hg38 15q11.2(chr15:22655582-23057491)x3	CYFIP1, LOC112272575 +18 more	Copy number gain	See cases	GBenign
Select item 144240	GRCh38/hg38 15q11.2(chr15:22655582-23107440)x3	CYFIP1, LOC112272575 +18 more	Copy number gain	See cases	GBenign
Select item 57523	GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 35416	GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3	CYFIP1, GOLGA6L1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 34639	GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GBenign
Select item 32488	GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GConflicting classifications of pathogenicity
Select item 144650	GRCh38/hg38 15q11.2(chr15:22655583-23107431)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 144648	GRCh38/hg38 15q11.2(chr15:22655583-23066575)x3	CYFIP1, LOC112272575 +18 more	Copy number gain	See cases	GBenign
Select item 145045	GRCh38/hg38 15q11.2(chr15:22655641-23012211)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 151197	GRCh38/hg38 15q11.2(chr15:22658112-23102647)x1	CYFIP1, LOC112272575 +18 more	Copy number loss	See cases	GUncertain significance
Select item 545166	NC_000015.10:g.(?_22673143)_(23226874_?)del	CYFIP1, GOLGA6L1 +19 more	Deletion	Autism +1 more	GPathogenic
Select item 545167	NC_000015.10:g.(?_22673675)_(23126124_?)del	CYFIP1, LOC112272575 +17 more	Deletion	Schizophrenia	GPathogenic
Select item 545168	NC_000015.10:g.(?_22681827)_(23226874_?)del	CYFIP1, GOLGA6L1 +19 more	Deletion	Schizophrenia	GPathogenic
Select item 154851	GRCh38/hg38 15q11.2(chr15:22693148-23066575)x1	CYFIP1, LOC112272575 +17 more	Copy number loss	See cases	GUncertain significance
Select item 2498204	NC_000015.10:g.22698177_(23120963_23380983)del	CYFIP1, GOLGA6L1 +22 more	Deletion	Chromosome 15q11.2 deletion syndrome	GPathogenic
Select item 1342642	NC_000015.10:g.22723843_23122692dup	CYFIP1, LOC112272575 +17 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 161050	GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3	CYFIP1, LOC112272575 +17 more	Copy number gain	See cases	GUncertain significance
Select item 146929	GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3	CYFIP1, LOC112272575 +17 more	Copy number gain	See cases	GBenign
Select item 146186	GRCh38/hg38 15q11.2(chr15:22726969-23066575)x1	CYFIP1, LOC112272575 +17 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 154999	GRCh38/hg38 15q11.2(chr15:22726999-23066575)x3	CYFIP1, LOC112272575 +17 more	Copy number gain	See cases	GBenign
Select item 146869	GRCh38/hg38 15q11.2(chr15:22726999-23057280)x1	CYFIP1, LOC112272575 +17 more	Copy number loss	See cases	GUncertain significance
Select item 57532	GRCh38/hg38 15q11.2(chr15:22750921-23066575)x1	CYFIP1, LOC112272575 +17 more	Copy number loss	See cases	GUncertain significance
Select item 545169	NC_000015.10:g.(?_22751662)_(23126124_?)del	CYFIP1, LOC112272575 +17 more	Deletion	Autism +1 more	GPathogenic
Select item 545170	NC_000015.10:g.(?_22770232)_(23126124_?)del	LOC130056711, LOC130056712 +16 more	Deletion	Autism +1 more	GPathogenic
Select item 57529	GRCh38/hg38 15q11.2(chr15:22775968-23066575)x1	CYFIP1, LOC112272575 +16 more	Copy number loss	See cases	GUncertain significance
Select item 2499630	GRCh38/hg38 15q11.2(chr15:22781888-23030923)	CYFIP1, LOC112272575 +14 more	Copy number loss	Chromosome 15q11.2 deletion syndrome	GUncertain significance
Select item 150240	GRCh38/hg38 15q11.2(chr15:22781888-23066575)x1	CYFIP1, LOC112272575 +14 more	Copy number loss	See cases	GUncertain significance
Select item 149296	GRCh38/hg38 15q11.2(chr15:22782794-23066575)x1	CYFIP1, LOC112272575 +14 more	Copy number loss	See cases	GUncertain significance
Select item 679847	NM_001142275.1(NIPA1):c.-48+50C>G	NIPA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194677	NM_001142275.1(NIPA1):c.-48+114G>C	NIPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298008	NM_001142275.1(NIPA1):c.-48+200del	NIPA1	Deletion (intron variant)	not provided	GBenign
Select item 417311	NC_000015.10:g.(?_22786632)_(22829789_?)del	LOC130056709, LOC130056710 +4 more	Deletion	Hereditary spastic paraplegia 6	GUncertain significance
Select item 417310	NC_000015.9:g.(?_23043279)_(23086436_?)dup	LOC130056712, LOC130056713 +4 more	Duplication	Hereditary spastic paraplegia 6	GUncertain significance
Select item 647476	NC_000015.10:g.(?_22786637)_(22812273_?)del	LOC130056709, LOC130056710 +4 more	Deletion	Hereditary spastic paraplegia 6	GUncertain significance

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