"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "IQGAP3" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2817288	NM_178229.5(IQGAP3):c.4644G>C (p.Leu1548Phe)	IQGAP3 (L1548F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741539	NM_178229.5(IQGAP3):c.4035G>A (p.Thr1345=)	IQGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787576	NM_178229.5(IQGAP3):c.2265C>T (p.His755=)	IQGAP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775144	NM_178229.5(IQGAP3):c.1778G>T (p.Arg593Leu)	IQGAP3 (R593L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777938	NM_178229.5(IQGAP3):c.1684G>A (p.Ala562Thr)	IQGAP3 (A562T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777950	NM_178229.5(IQGAP3):c.531C>A (p.Ser177=)	IQGAP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CKS1B, PRCC +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance