"PreventionGenetics, part of Exact Sciences"[submitter] AND "RASGEF1B" - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041994	NM_152545.3(RASGEF1B):c.1189G>A (p.Val397Ile)	RASGEF1B (V355I +2 more)	Single nucleotide variant (missense variant)	RASGEF1B-related disorder	GBenign
Select item 3040761	NM_152545.3(RASGEF1B):c.1037A>G (p.Tyr346Cys)	RASGEF1B (Y304C +2 more)	Single nucleotide variant (missense variant)	RASGEF1B-related disorder	GLikely benign
Select item 710953	NM_152545.3(RASGEF1B):c.969T>G (p.Thr323=)	RASGEF1B	Single nucleotide variant (synonymous variant)	RASGEF1B-related disorder +1 more	GBenign
Select item 3059809	NM_152545.3(RASGEF1B):c.826-6G>A	RASGEF1B	Single nucleotide variant (intron variant)	RASGEF1B-related disorder	GBenign
Select item 3039822	NM_152545.3(RASGEF1B):c.664A>G (p.Asn222Asp)	RASGEF1B (N180D +2 more)	Single nucleotide variant (missense variant)	RASGEF1B-related disorder	GBenign

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