"Ambry Genetics"[submitter] AND "RABGEF1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312230	NM_014504.3(RABGEF1):c.241C>T (p.Leu81Phe)	RABGEF1 (L105F +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2609259	NM_014504.3(RABGEF1):c.317G>T (p.Ser106Ile)	RABGEF1 (S130I +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2536527	NM_014504.3(RABGEF1):c.358G>A (p.Ala120Thr)	RABGEF1 (A120T +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2234161	NM_014504.3(RABGEF1):c.407A>T (p.Asp136Val)	RABGEF1 (D59V +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3150914	NM_014504.3(RABGEF1):c.503A>G (p.His168Arg)	RABGEF1 (H182R +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2296799	NM_014504.3(RABGEF1):c.580C>G (p.Gln194Glu)	RABGEF1 (Q195E +6 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2382376	NM_014504.3(RABGEF1):c.746C>T (p.Thr249Met)	RABGEF1 (T166M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221321	NM_014504.3(RABGEF1):c.772A>G (p.Asn258Asp)	RABGEF1 (N181D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208672	NM_014504.3(RABGEF1):c.854G>A (p.Arg285Gln)	RABGEF1 (R208Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302170	NM_014504.3(RABGEF1):c.868T>G (p.Cys290Gly)	RABGEF1 (C207G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150916	NM_014504.3(RABGEF1):c.905T>A (p.Ile302Asn)	RABGEF1 (I110N +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150917	NM_014504.3(RABGEF1):c.964A>G (p.Ile322Val)	RABGEF1 (I115V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150911	NM_014504.3(RABGEF1):c.1018C>T (p.Arg340Cys)	RABGEF1 (R133C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307863	NM_014504.3(RABGEF1):c.1147C>T (p.Arg383Cys)	RABGEF1 (R176C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606116	NM_014504.3(RABGEF1):c.1171C>T (p.Pro391Ser)	RABGEF1 (P199S +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213092	NM_014504.3(RABGEF1):c.1197G>T (p.Trp399Cys)	RABGEF1 (W316C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150913	NM_014504.3(RABGEF1):c.1232A>G (p.Tyr411Cys)	RABGEF1 (Y219C +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312233	NM_014504.3(RABGEF1):c.1289A>C (p.Glu430Ala)	RABGEF1 (E223A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369719	NM_014504.3(RABGEF1):c.1373T>C (p.Leu458Pro)	RABGEF1 (L381P +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312232	NM_014504.3(RABGEF1):c.1408A>G (p.Ile470Val)	RABGEF1 (I263V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 20