"Ambry Genetics"[submitter] AND "RAP1GAP2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2459450	NM_015085.5(RAP1GAP2):c.110C>T (p.Ala37Val)	RAP1GAP2 (A18V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2258048	NM_015085.5(RAP1GAP2):c.250G>A (p.Asp84Asn)	LOC101927911, RAP1GAP2 (D125N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254702	NM_015085.5(RAP1GAP2):c.332G>A (p.Gly111Asp)	RAP1GAP2, LOC101927911 (G120D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556187	NM_015085.5(RAP1GAP2):c.343G>A (p.Glu115Lys)	LOC101927911, RAP1GAP2 (E156K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404554	NM_015085.5(RAP1GAP2):c.362G>A (p.Gly121Asp)	RAP1GAP2, LOC101927911 (G162D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293753	NM_015085.5(RAP1GAP2):c.373T>C (p.Ser125Pro)	LOC101927911, RAP1GAP2 (S106P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395932	NM_015085.5(RAP1GAP2):c.547G>A (p.Val183Ile)	LOC101927911, RAP1GAP2 (V183I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2288384	NM_015085.5(RAP1GAP2):c.710A>G (p.Asn237Ser)	RAP1GAP2 (N246S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222155	NM_015085.5(RAP1GAP2):c.728A>G (p.Lys243Arg)	RAP1GAP2 (K228R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205759	NM_015085.5(RAP1GAP2):c.1003G>A (p.Val335Ile)	RAP1GAP2 (V316I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269806	NM_015085.5(RAP1GAP2):c.1124T>C (p.Met375Thr)	RAP1GAP2 (M416T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234698	NM_015085.5(RAP1GAP2):c.1140C>A (p.Phe380Leu)	RAP1GAP2 (F380L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325114	NM_015085.5(RAP1GAP2):c.1217G>A (p.Arg406Gln)	RAP1GAP2 (R387Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262871	NM_015085.5(RAP1GAP2):c.1261G>A (p.Val421Ile)	RAP1GAP2 (V421I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270228	NM_015085.5(RAP1GAP2):c.1324G>T (p.Ala442Ser)	RAP1GAP2 (A483S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479744	NM_015085.5(RAP1GAP2):c.1397A>G (p.Asp466Gly)	RAP1GAP2 (D447G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312777	NM_015085.5(RAP1GAP2):c.1407C>G (p.His469Gln)	RAP1GAP2 (H450Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610022	NM_015085.5(RAP1GAP2):c.1447G>T (p.Asp483Tyr)	RAP1GAP2 (D464Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492572	NM_015085.5(RAP1GAP2):c.1504C>T (p.Arg502Cys)	RAP1GAP2 (R502C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388239	NM_015085.5(RAP1GAP2):c.1652C>T (p.Thr551Met)	RAP1GAP2 (T592M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366614	NM_015085.5(RAP1GAP2):c.1894C>T (p.Arg632Cys)	RAP1GAP2 (R632C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328267	NM_015085.5(RAP1GAP2):c.2074G>A (p.Ala692Thr)	RAP1GAP2 (A677T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277924	NM_015085.5(RAP1GAP2):c.2114A>G (p.Lys705Arg)	RAP1GAP2 (K714R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494197	NM_015085.5(RAP1GAP2):c.2129C>A (p.Pro710Gln)	RAP1GAP2 (P751Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614007	NM_015085.5(RAP1GAP2):c.2135C>T (p.Ser712Leu)	RAP1GAP2 (S697L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356246	NM_015085.5(RAP1GAP2):c.2149C>T (p.Arg717Cys)	RAP1GAP2 (R717C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339962	NM_015085.5(RAP1GAP2):c.2153T>G (p.Phe718Cys)	RAP1GAP2 (F699C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 27