GPX3[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 2359526	NM_002084.5(GPX3):c.20C>A (p.Ala7Glu)	GPX3 (A7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299599	NM_002084.5(GPX3):c.20C>G (p.Ala7Gly)	GPX3 (A7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406007	NM_002084.5(GPX3):c.56T>A (p.Val19Asp)	GPX3 (V19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299490	NM_002084.5(GPX3):c.80A>T (p.Lys27Met)	GPX3 (K27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601864	NM_002084.5(GPX3):c.168C>A (p.Phe56Leu)	GPX3 (F65L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401169	NM_002084.5(GPX3):c.203A>G (p.Asn68Ser)	GPX3 (N68S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557180	NM_002084.5(GPX3):c.284T>A (p.Val95Asp)	GPX3 (V95D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343451	NM_002084.5(GPX3):c.392A>G (p.Asn131Ser)	GPX3 (N140S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364219	NM_002084.5(GPX3):c.404T>G (p.Phe135Cys)	GPX3 (F144C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102107	NM_002084.5(GPX3):c.503G>A (p.Arg168His)	GPX3 (R177H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542078	NM_002084.5(GPX3):c.538C>T (p.Arg180Cys)	GPX3 (R180C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102108	NM_002084.5(GPX3):c.623A>G (p.Lys208Arg)	GPX3 (K208R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 23