"Invitae"[submitter] AND "CDC42BPA"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 790636	NM_001394014.1(CDC42BPA):c.4983C>T (p.Ser1661=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 707883	NM_001394014.1(CDC42BPA):c.4455G>A (p.Ser1485=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737824	NM_001394014.1(CDC42BPA):c.3776-8T>G	CDC42BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790637	NM_001394014.1(CDC42BPA):c.3698G>A (p.Arg1233His)	CDC42BPA (R1170H +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 739372	NM_001394014.1(CDC42BPA):c.3300G>A (p.Gln1100=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773420	NM_001394014.1(CDC42BPA):c.2652G>A (p.Ser884=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 716443	NM_001394014.1(CDC42BPA):c.2369A>G (p.Tyr790Cys)	CDC42BPA (Y709C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 763783	NM_001394014.1(CDC42BPA):c.1617G>A (p.Thr539=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774590	NM_001394014.1(CDC42BPA):c.870A>G (p.Thr290=)	CDC42BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775675	NM_001394014.1(CDC42BPA):c.692C>T (p.Thr231Met)	CDC42BPA (T231M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance