ClinVar for Gene (Select 5529) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2314810	NM_006246.5(PPP2R5E):c.290T>C (p.Val97Ala)	PPP2R5E (V21A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277276	NM_006246.5(PPP2R5E):c.46G>A (p.Gly16Arg)	PPP2R5E (G16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1690343	NM_006246.5(PPP2R5E):c.605T>G (p.Val202Gly)	PPP2R5E (V126G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 786620	NM_006246.5(PPP2R5E):c.478C>A (p.Arg160=)	PPP2R5E	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769862	NM_006246.5(PPP2R5E):c.1008A>G (p.Gln336=)	PPP2R5E	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768658	NM_006246.5(PPP2R5E):c.1143C>T (p.Asn381=)	PPP2R5E	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 394056	GRCh37/hg19 14q23.2(chr14:63779634-63849018)x3	GPHB5, PPP2R5E	Copy number gain	See cases	GBenign/Likely benign
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 149661	GRCh38/hg38 14q23.2(chr14:63153722-64093651)x3	GPHB5, LOC112268140 +29 more	Copy number gain	See cases	GUncertain significance
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 58309	GRCh38/hg38 14q23.2(chr14:63124630-63563163)x3	LOC130055802, LOC130055803 +12 more	Copy number gain	See cases	GUncertain significance
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 23