ClinVar for Gene (Select 644246) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338828	GRCh38/hg38 17q21.31(chr17:46130641-46273757)	KANSL1, KANSL1-AS1 +2 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 978035	NC_000017.11:g.46096853_46403941del	ARL17B, KANSL1 +6 more	Deletion	Koolen-de Vries syndrome	GPathogenic
Select item 160838	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 157388	NC_000017.11:g.46092442_46502770dup	ARL17A, ARL17B +7 more	Duplication	Large for gestational age +3 more	Gnot provided
Select item 157387	NC_000017.11:g.46092442_46290846dup	ARL17B, KANSL1 +4 more	Duplication	Large for gestational age +2 more	Gnot provided
Select item 157386	NC_000017.11:g.46084075_46290846dup	ARL17B, KANSL1 +4 more	Duplication	Large for gestational age	Gnot provided
Select item 157385	NC_000017.11:g.46084075_46502770dup	ARL17A, ARL17B +7 more	Duplication	Large for gestational age	Gnot provided
Select item 154782	GRCh38/hg38 17q21.31(chr17:46094491-46275893)x3	ARL17B, KANSL1 +3 more	Copy number gain	See cases	GLikely benign
Select item 154554	GRCh38/hg38 17q21.31(chr17:46130519-46662118)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GLikely 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 153006	GRCh38/hg38 17q21.31(chr17:46176989-46661960)x1	ARL17A, ARL17B +8 more	Copy number loss	See cases	GBenign
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
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 149987	GRCh38/hg38 17q21.31(chr17:46061149-46661960)x1	LRRC37A, ARL17A +9 more	Copy number loss	See cases	GLikely benign
Select item 149785	GRCh38/hg38 17q21.31(chr17:46161863-46661960)x3	LRRC37A2, NSF +8 more	Copy number gain	See cases	GBenign
Select item 148960	GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 148451	GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
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 148313	GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 147680	GRCh38/hg38 17q21.31(chr17:46154580-46267672)x3	KANSL1, KANSL1-AS1 +1 more	Copy number gain	See cases	GBenign
Select item 147646	GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 147218	GRCh38/hg38 17q21.31(chr17:46094551-46247855)x3	KANSL1, KANSL1-AS1 +1 more	Copy number gain	See cases	GBenign
Select item 147150	GRCh38/hg38 17q21.31(chr17:46094551-46291496)x3	KANSL1-AS1, LOC126862577 +4 more	Copy number gain	See cases	GBenign
Select item 146940	GRCh38/hg38 17q21.31(chr17:46111105-46291496)x1	ARL17B, KANSL1 +4 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 146606	GRCh38/hg38 17q21.31(chr17:46133397-46267672)x3	KANSL1, KANSL1-AS1 +2 more	Copy number gain	See cases	GBenign
Select item 57541	GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 57540	GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57525	GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57524	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1	ARL17B, CRHR1 +13 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 57297	GRCh38/hg38 17q21.31(chr17:46176989-46742963)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
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 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 35239	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 32948	GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign

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Links from Gene

Items: 39