"GeneDx"[submitter] AND "GPX4"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 151474	GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3	ABCA7, ARHGAP45 +25 more	Copy number gain	See cases	GLikely benign
Select item 152546	GRCh38/hg38 19p13.3(chr19:1102684-1161676)x3	GPX4, LOC130062883 +5 more	Copy number gain	See cases	GBenign
Select item 151453	GRCh38/hg38 19p13.3(chr19:1102684-1144297)x3	GPX4, LOC130062883 +5 more	Copy number gain	See cases	GBenign
Select item 1182823	NC_000019.10:g.1103631dup	GPX4	Duplication	not provided	GBenign
Select item 1266818	NC_000019.10:g.1103769A>T	GPX4, LOC130062886	Single nucleotide variant	not provided	GBenign
Select item 1293614	NC_000019.10:g.1103783A>G	GPX4, LOC130062886	Single nucleotide variant	not provided	GBenign
Select item 1250296	NC_000019.10:g.1103786C>T	GPX4, LOC130062886	Single nucleotide variant	not provided	GBenign
Select item 1326222	NC_000019.10:g.1103866C>T	LOC130062887, GPX4	Single nucleotide variant	not provided	GLikely benign
Select item 1326145	NC_000019.10:g.1103972C>T	GPX4, LOC130062887	Single nucleotide variant	not provided	GLikely benign
Select item 1258000	NM_002085.5(GPX4):c.36G>A (p.Pro12=)	GPX4, LOC130062887	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1174251	NM_002085.5(GPX4):c.84+312G>C	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241253	NM_002085.5(GPX4):c.84+401C>G	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231737	NM_002085.5(GPX4):c.84+437G>T	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225880	NM_002085.5(GPX4):c.85-311C>T	GPX4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1237937	NM_002085.5(GPX4):c.179+31T>C	GPX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780496	NM_002085.5(GPX4):c.391A>G (p.Ser131Gly)	GPX4 (S131G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1225048	NM_002085.5(GPX4):c.476+42_476+47del	GPX4	Microsatellite (intron variant)	not provided	GBenign
Select item 1261626	NM_002085.5(GPX4):c.476+36T>G	GPX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249550	NM_002085.5(GPX4):c.476+42T>G	GPX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321762	NM_002085.5(GPX4):c.477-134G>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325925	NM_002085.5(GPX4):c.477-111C>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 451510	NM_002085.5(GPX4):c.502-1del	GPX4 (V175fs)	Deletion (frameshift variant +1 more)	Spondylometaphyseal dysplasia, Sedaghatian type +1 more	GLikely pathogenic
Select item 1268862	NM_002085.5(GPX4):c.*44T>C	GPX4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1321612	NM_002085.5(GPX4):c.*161G>A	GPX4	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1261068	NC_000019.10:g.1106846C>T	GPX4	Single nucleotide variant	not provided	GBenign
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 28