"Ambry Genetics"[submitter] AND "RASGEF1C"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2531600	NM_175062.4(RASGEF1C):c.1304G>A (p.Gly435Asp)	RASGEF1C (G435D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151811	NM_175062.4(RASGEF1C):c.1261A>G (p.Ile421Val)	RASGEF1C (I421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312915	NM_175062.4(RASGEF1C):c.1254C>G (p.Asp418Glu)	RASGEF1C (D418E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318780	NM_175062.4(RASGEF1C):c.1051C>T (p.Arg351Cys)	RASGEF1C (R351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151810	NM_175062.4(RASGEF1C):c.1043C>T (p.Ala348Val)	RASGEF1C (A348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290583	NM_175062.4(RASGEF1C):c.1004C>T (p.Thr335Met)	RASGEF1C (T335M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466161	NM_175062.4(RASGEF1C):c.877G>A (p.Gly293Ser)	RASGEF1C (G293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151817	NM_175062.4(RASGEF1C):c.871A>G (p.Asn291Asp)	RASGEF1C (N291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151816	NM_175062.4(RASGEF1C):c.859C>T (p.Arg287Cys)	RASGEF1C (R287C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312912	NM_175062.4(RASGEF1C):c.724A>G (p.Ser242Gly)	RASGEF1C (S242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151815	NM_175062.4(RASGEF1C):c.701T>G (p.Leu234Arg)	RASGEF1C (L234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602841	NM_175062.4(RASGEF1C):c.650G>A (p.Arg217Gln)	RASGEF1C (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151814	NM_175062.4(RASGEF1C):c.649C>T (p.Arg217Trp)	RASGEF1C (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217741	NM_175062.4(RASGEF1C):c.619C>G (p.Gln207Glu)	RASGEF1C (Q207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260255	NM_175062.4(RASGEF1C):c.614C>T (p.Ala205Val)	RASGEF1C (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339963	NM_175062.4(RASGEF1C):c.613G>T (p.Ala205Ser)	RASGEF1C (A205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238881	NM_175062.4(RASGEF1C):c.598G>A (p.Asp200Asn)	RASGEF1C (D200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151813	NM_175062.4(RASGEF1C):c.500G>A (p.Arg167His)	RASGEF1C (R167H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312917	NM_175062.4(RASGEF1C):c.491C>A (p.Ala164Glu)	RASGEF1C (A164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340389	NM_175062.4(RASGEF1C):c.481C>G (p.Gln161Glu)	RASGEF1C (Q161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151812	NM_175062.4(RASGEF1C):c.445C>G (p.Arg149Gly)	RASGEF1C (R149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312918	NM_175062.4(RASGEF1C):c.399C>G (p.His133Gln)	RASGEF1C (H133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567930	NM_175062.4(RASGEF1C):c.397C>A (p.His133Asn)	RASGEF1C (H133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342709	NM_175062.4(RASGEF1C):c.175G>A (p.Glu59Lys)	RASGEF1C (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329283	NM_175062.4(RASGEF1C):c.145C>T (p.His49Tyr)	RASGEF1C (H49Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293060	NM_175062.4(RASGEF1C):c.133A>G (p.Thr45Ala)	RASGEF1C (T45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312913	NM_175062.4(RASGEF1C):c.131A>T (p.Glu44Val)	RASGEF1C (E44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369720	NM_175062.4(RASGEF1C):c.94C>T (p.Pro32Ser)	RASGEF1C (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299148	NM_175062.4(RASGEF1C):c.59C>A (p.Pro20His)	RASGEF1C (P20H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312914	NM_175062.4(RASGEF1C):c.29T>C (p.Met10Thr)	RASGEF1C (M10T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 30