RASGEF1A[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 148036	GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3	BMS1, CSGALNACT2 +41 more	Copy number gain	See cases	GUncertain significance
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 150132	GRCh38/hg38 10q11.21(chr10:43126703-43372908)x3	CSGALNACT2, CSGALNACT2-DT +20 more	Copy number gain	See cases	GUncertain significance
Select item 3312903	NM_145313.4(RASGEF1A):c.1281G>C (p.Glu427Asp)	RASGEF1A (E427D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312904	NM_145313.4(RASGEF1A):c.1276G>T (p.Val426Leu)	RASGEF1A (V434L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312907	NM_145313.4(RASGEF1A):c.1193A>G (p.Asn398Ser)	RASGEF1A (N406S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303866	NM_145313.4(RASGEF1A):c.1167C>G (p.Ile389Met)	RASGEF1A (I389M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151800	NM_145313.4(RASGEF1A):c.1156G>C (p.Val386Leu)	RASGEF1A (V394L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557452	NM_145313.4(RASGEF1A):c.1156G>A (p.Val386Ile)	RASGEF1A (V394I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620891	NM_145313.4(RASGEF1A):c.1132G>A (p.Val378Ile)	RASGEF1A (V386I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151799	NM_145313.4(RASGEF1A):c.1121G>C (p.Arg374Pro)	RASGEF1A (R382P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312821	NM_145313.4(RASGEF1A):c.867C>A (p.His289Gln)	RASGEF1A (H289Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490608	NM_145313.4(RASGEF1A):c.715A>T (p.Met239Leu)	RASGEF1A (M247L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613485	NM_145313.4(RASGEF1A):c.670C>G (p.His224Asp)	RASGEF1A (H224D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403037	NM_145313.4(RASGEF1A):c.631G>A (p.Val211Met)	RASGEF1A (V211M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401524	NM_145313.4(RASGEF1A):c.596C>G (p.Thr199Ser)	RASGEF1A (T199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242622	NM_145313.4(RASGEF1A):c.571G>A (p.Val191Ile)	RASGEF1A (V199I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312906	NM_145313.4(RASGEF1A):c.560G>A (p.Arg187Gln)	RASGEF1A (R195Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312908	NM_145313.4(RASGEF1A):c.503G>A (p.Ser168Asn)	RASGEF1A (S168N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493638	NM_145313.4(RASGEF1A):c.439C>T (p.Arg147Cys)	RASGEF1A (R155C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151801	NM_145313.4(RASGEF1A):c.352G>A (p.Val118Met)	RASGEF1A (V118M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509335	NM_145313.4(RASGEF1A):c.179C>T (p.Thr60Met)	RASGEF1A (T60M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562533	NM_145313.4(RASGEF1A):c.130C>T (p.His44Tyr)	RASGEF1A (H44Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151803	NM_145313.4(RASGEF1A):c.88G>A (p.Gly30Arg)	RASGEF1A (G38R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151802	NM_145313.4(RASGEF1A):c.64C>G (p.Pro22Ala)	RASGEF1A (P22A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380081	NM_145313.4(RASGEF1A):c.52G>A (p.Gly18Arg)	RASGEF1A (G18R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527583	GRCh37/hg19 10q11.21(chr10:43683704-44151599)	FXYD4, HNRNPF +4 more	Copy number gain	not specified	GUncertain significance
Select item 1340957	GRCh37/hg19 10q11.21(chr10:43683704-44046611)x3	FXYD4, HNRNPF +1 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443388	GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3	BMS1, CSGALNACT2 +8 more	Copy number gain	See cases	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 44