ClinVar for Gene (Select 153020) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312911	NM_152545.3(RASGEF1B):c.485G>A (p.Arg162His)	RASGEF1B (R162H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312910	NM_152545.3(RASGEF1B):c.269A>G (p.His90Arg)	RASGEF1B (H90R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312909	NM_152545.3(RASGEF1B):c.416A>G (p.His139Arg)	RASGEF1B (H139R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151808	NM_152545.3(RASGEF1B):c.853A>G (p.Met285Val)	RASGEF1B (M285V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151807	NM_152545.3(RASGEF1B):c.763T>G (p.Leu255Val)	RASGEF1B (L255V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151806	NM_152545.3(RASGEF1B):c.476G>A (p.Cys159Tyr)	RASGEF1B (C117Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151805	NM_152545.3(RASGEF1B):c.241G>T (p.Ala81Ser)	RASGEF1B (A81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151804	NM_152545.3(RASGEF1B):c.170A>G (p.Tyr57Cys)	RASGEF1B (Y57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3059809	NM_152545.3(RASGEF1B):c.826-6G>A	RASGEF1B	Single nucleotide variant (intron variant)	RASGEF1B-related disorder	GBenign
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 3039822	NM_152545.3(RASGEF1B):c.664A>G (p.Asn222Asp)	RASGEF1B (N180D +2 more)	Single nucleotide variant (missense variant)	RASGEF1B-related disorder	GBenign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2591352	NM_152545.3(RASGEF1B):c.1171C>T (p.Arg391Cys)	RASGEF1B (R390C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2536172	NM_152545.3(RASGEF1B):c.845G>A (p.Arg282Gln)	RASGEF1B (R281Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526253	NM_152545.3(RASGEF1B):c.597C>G (p.Ile199Met)	RASGEF1B (I198M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515317	NM_152545.3(RASGEF1B):c.1027A>G (p.Ser343Gly)	RASGEF1B (S342G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474637	NM_152545.3(RASGEF1B):c.115C>G (p.Leu39Val)	RASGEF1B (L39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474050	NM_152545.3(RASGEF1B):c.1159G>T (p.Gly387Cys)	RASGEF1B (G386C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393003	NM_152545.3(RASGEF1B):c.1253T>C (p.Val418Ala)	RASGEF1B (V376A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388355	NM_152545.3(RASGEF1B):c.647T>C (p.Ile216Thr)	RASGEF1B (I174T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375002	NM_152545.3(RASGEF1B):c.745C>T (p.Arg249Trp)	RASGEF1B (R207W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337722	NM_152545.3(RASGEF1B):c.880C>T (p.Arg294Trp)	RASGEF1B (R252W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292768	NM_152545.3(RASGEF1B):c.1174C>T (p.Leu392Phe)	RASGEF1B (L391F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291349	NM_152545.3(RASGEF1B):c.658A>G (p.Arg220Gly)	RASGEF1B (R219G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252446	NM_152545.3(RASGEF1B):c.613G>A (p.Asp205Asn)	RASGEF1B (D163N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244057	NM_152545.3(RASGEF1B):c.458T>A (p.Val153Asp)	RASGEF1B (V111D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244056	NM_152545.3(RASGEF1B):c.457G>T (p.Val153Phe)	RASGEF1B (V152F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213928	NM_152545.3(RASGEF1B):c.611A>G (p.Asn204Ser)	RASGEF1B (N203S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208157	NM_152545.3(RASGEF1B):c.110A>G (p.Asn37Ser)	RASGEF1B (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808766	GRCh37/hg19 4q21.21-21.22(chr4:82377883-82417592)x1	RASGEF1B	Copy number loss	not provided	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527102	GRCh37/hg19 4q21.21-21.22(chr4:80865788-82927188)	ANTXR2, BMP3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980100	GRCh37/hg19 4q21.21-21.22(chr4:82377883-82602075)x3	RASGEF1B	Copy number gain	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 710953	NM_152545.3(RASGEF1B):c.969T>G (p.Thr323=)	RASGEF1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687488	GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1	ANTXR2, BMP3 +18 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 443689	GRCh37/hg19 4q21.21-21.22(chr4:82348110-83124384)x3	RASGEF1B	Copy number gain	See cases	GLikely benign
Select item 442797	GRCh37/hg19 4q21.21-21.23(chr4:82359656-84155605)x1	COPS4, ENOPH1 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 151718	GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	ABRAXAS1, AFF1 +146 more	Copy number loss	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 148797	GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	ABRAXAS1, BMP3 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 147709	GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	BMP3, CDS1 +137 more	Copy number loss	See cases	GPathogenic
Select item 146518	GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1	ANTXR2, BMP3 +83 more	Copy number loss	See cases	GUncertain significance
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 59456	GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1	COPS4, COQ2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 68