"GeneDx"[submitter] AND "CD46"[gene] - ClinVar

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Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1280415	NC_000001.11:g.207751561G>A	CD46	Single nucleotide variant	not provided	GBenign
Select item 1247101	NC_000001.11:g.207751847G>A	CD46	Single nucleotide variant	not provided	GBenign
Select item 1222340	NC_000001.11:g.207752016C>G	CD46	Single nucleotide variant	not provided	GBenign
Select item 1245951	NM_172351.3(CD46):c.98-192T>A	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257176	NM_172351.3(CD46):c.98-156G>A	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243360	NM_172351.3(CD46):c.389+188T>G	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229014	NM_172351.3(CD46):c.475+250dup	CD46	Duplication (intron variant)	not provided	GBenign
Select item 1278755	NM_172351.3(CD46):c.475+284G>A	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289668	NM_172351.3(CD46):c.476-107A>C	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271165	NM_172351.3(CD46):c.476-41A>T	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181135	NM_172351.3(CD46):c.673+58A>G	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295140	NM_172351.3(CD46):c.673+284dup	CD46	Duplication (intron variant)	not provided	GBenign
Select item 1295118	NM_172351.3(CD46):c.673+283_673+284dup	CD46	Duplication (intron variant)	not provided	GBenign
Select item 1280768	NM_172351.3(CD46):c.674-312G>T	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289553	NM_172351.3(CD46):c.857-271T>A	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277332	NM_172351.3(CD46):c.901+23G>T	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242506	NM_172351.3(CD46):c.944-78G>A	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227398	NM_172351.3(CD46):c.983-322G>C	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234808	NM_172351.3(CD46):c.1082+43T>C	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182619	NM_172351.3(CD46):c.1082+106_1082+109del	CD46	Deletion (intron variant)	not provided	GBenign
Select item 1290146	NM_172351.3(CD46):c.1082+109T>A	CD46	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267889	NM_172351.3(CD46):c.1082+114_1082+116dup	CD46	Duplication (intron variant)	not provided	GBenign
Select item 1265414	NM_172351.3(CD46):c.1082+115_1082+116dup	CD46	Duplication (intron variant)	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 24