"GeneDx"[submitter] AND "LOC130062887"[gene] - ClinVar

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	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 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