"PreventionGenetics, part of Exact Sciences"[submitter] AND "ARHGEF2"[ - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057848	NM_001162383.2(ARHGEF2):c.2406G>A (p.Thr802=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder	GLikely benign
Select item 3045372	NM_001162383.2(ARHGEF2):c.2004G>A (p.Leu668=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder	GLikely benign
Select item 3040342	NM_001162383.2(ARHGEF2):c.1836C>T (p.Val612=)	ARHGEF2	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder	GLikely benign
Select item 3040325	NM_001162383.2(ARHGEF2):c.1185G>A (p.Pro395=)	ARHGEF2, LOC122128443	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder	GLikely benign
Select item 3040107	NM_001162383.2(ARHGEF2):c.1101+7G>A	ARHGEF2, LOC122128443	Single nucleotide variant (intron variant)	ARHGEF2-related disorder	GLikely benign
Select item 724752	NM_001162383.2(ARHGEF2):c.993G>A (p.Ala331=)	ARHGEF2, LOC122128443	Single nucleotide variant (synonymous variant)	ARHGEF2-related disorder +1 more	GLikely benign
Select item 3056607	NM_001162383.2(ARHGEF2):c.581-10T>C	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related disorder	GBenign
Select item 789945	NM_001162383.2(ARHGEF2):c.581-10T>A	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related disorder +1 more	GBenign
Select item 789946	NM_001162383.2(ARHGEF2):c.516A>G (p.Ser172=)	ARHGEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3049428	NM_001162383.2(ARHGEF2):c.63+9G>A	ARHGEF2	Single nucleotide variant (intron variant)	ARHGEF2-related disorder	GLikely benign