LOC129938295[gene] - ClinVar

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Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	LOC129938303, LOC129938304 +133 more	Copy number gain	See cases	GPathogenic
Select item 1679598	Single allele	LOC129938247, LOC129938248 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 545293	Single allele	LOC123464504, LOC129938307 +114 more	Duplication	Autism	GLikely pathogenic
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 149940	GRCh38/hg38 3q29(chr3:195955711-197597912)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 155422	GRCh38/hg38 3q29(chr3:195963356-197629463)x3	FBXO45, LINC00885 +110 more	Copy number gain	See cases	GUncertain significance
Select item 59982	GRCh38/hg38 3q29(chr3:195965316-197625573)x3	BDH1, CEP19 +109 more	Copy number gain	See cases	GPathogenic
Select item 59983	GRCh38/hg38 3q29(chr3:195972720-197658495)x3	BDH1, CEP19 +113 more	Copy number gain	See cases	GPathogenic
Select item 148628	GRCh38/hg38 3q29(chr3:195974291-197597912)x1	NRROS, PAK2 +109 more	Copy number loss	See cases	GPathogenic
Select item 153972	GRCh38/hg38 3q29(chr3:195976744-197629463)x1	BDH1, CEP19 +110 more	Copy number loss	See cases	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	LOC123464504, LOC123464505 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 59984	GRCh38/hg38 3q29(chr3:195997494-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 153314	GRCh38/hg38 3q29(chr3:195998419-197629463)x3	BDH1, CEP19 +108 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 154986	GRCh38/hg38 3q29(chr3:196013486-197597912)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 152467	GRCh38/hg38 3q29(chr3:196013486-197612399)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 57328	GRCh38/hg38 3q29(chr3:196013486-197503306)x3	CEP19, DLG1 +102 more	Copy number gain	See cases	GPathogenic
Select item 34369	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	LOC129938306, LOC129938307 +107 more	Copy number loss	See cases	GPathogenic
Select item 149576	GRCh38/hg38 3q29(chr3:196013531-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59986	GRCh38/hg38 3q29(chr3:196035777-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 59985	GRCh38/hg38 3q29(chr3:196035777-197606438)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 59289	GRCh38/hg38 3q29(chr3:196035777-197625573)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59288	GRCh38/hg38 3q29(chr3:196035777-197658540)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 57492	GRCh38/hg38 3q29(chr3:196077857-197165715)x1	CEP19, DLG1 +89 more	Copy number loss	See cases	GPathogenic
Select item 545295	NC_000003.12:g.(?_196154147)_(197376501_?)del	CEP19, DLG1 +85 more	Deletion	Schizophrenia	GPathogenic
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 144313	GRCh38/hg38 3q29(chr3:196536193-196741662)x3	CEP19, FBXO45 +19 more	Copy number gain	See cases	GUncertain significance

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Items: 49