LOC112533643[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 57467	GRCh38/hg38 17q21.31(chr17:46061147-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 149987	GRCh38/hg38 17q21.31(chr17:46061149-46661960)x1	LRRC37A, ARL17A +9 more	Copy number loss	See cases	GLikely benign
Select item 157385	NC_000017.11:g.46084075_46502770dup	ARL17A, ARL17B +7 more	Duplication	Large for gestational age	Gnot provided
Select item 157388	NC_000017.11:g.46092442_46502770dup	ARL17A, ARL17B +7 more	Duplication	Large for gestational age +3 more	Gnot provided
Select item 978035	NC_000017.11:g.46096853_46403941del	ARL17B, KANSL1 +6 more	Deletion	Koolen-de Vries syndrome	GPathogenic
Select item 32948	GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 154554	GRCh38/hg38 17q21.31(chr17:46130519-46662118)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GLikely benign
Select item 150266	GRCh38/hg38 17q21.31(chr17:46130519-46380808)x1	ARL17B, KANSL1 +6 more	Copy number loss	See cases	GBenign/Likely benign
Select item 150265	GRCh38/hg38 17q21.31(chr17:46130519-46380808)x3	ARL17B, KANSL1 +6 more	Copy number gain	See cases	GBenign/Likely benign
Select item 150183	GRCh38/hg38 17q21.31(chr17:46130519-46799417)x1	ARL17A, ARL17B +13 more	Copy number loss	See cases	GBenign
Select item 146760	GRCh38/hg38 17q21.31(chr17:46130519-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign/Likely benign
Select item 154310	GRCh38/hg38 17q21.31(chr17:46130611-46661960)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GBenign
Select item 153070	GRCh38/hg38 17q21.31(chr17:46133397-46710558)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GBenign
Select item 149785	GRCh38/hg38 17q21.31(chr17:46161863-46661960)x3	LRRC37A2, NSF +8 more	Copy number gain	See cases	GBenign
Select item 153006	GRCh38/hg38 17q21.31(chr17:46176989-46661960)x1	ARL17A, ARL17B +8 more	Copy number loss	See cases	GBenign
Select item 57297	GRCh38/hg38 17q21.31(chr17:46176989-46742963)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 150439	GRCh38/hg38 17q21.31(chr17:46219761-46661960)x3	ARL17A, ARL17B +7 more	Copy number gain	See cases	GLikely benign
Select item 146979	GRCh38/hg38 17q21.31(chr17:46247856-46681550)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GBenign
Select item 147866	GRCh38/hg38 17q21.31(chr17:46273727-46661960)x3	ARL17A, ARL17B +6 more	Copy number gain	See cases	GBenign
Select item 144324	GRCh38/hg38 17q21.31(chr17:46273727-46661960)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GBenign
Select item 149409	GRCh38/hg38 17q21.31(chr17:46273730-46661960)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GLikely benign
Select item 149813	GRCh38/hg38 17q21.31(chr17:46297929-46710337)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 147986	GRCh38/hg38 17q21.31(chr17:46304332-46685375)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GBenign
Select item 150912	GRCh38/hg38 17q21.31(chr17:46322082-46685236)x1	ARL17A, ARL17B +5 more	Copy number loss	See cases	GLikely benign
Select item 150896	GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 150880	GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 147989	GRCh38/hg38 17q21.31(chr17:46347056-46661960)x1	ARL17A, ARL17B +4 more	Copy number loss	See cases	GBenign
Select item 150670	GRCh38/hg38 17q21.31(chr17:46348112-46661960)x3	ARL17A, ARL17B +4 more	Copy number gain	See cases	GLikely benign

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Items: 32