ARHGEF33[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 149818	GRCh38/hg38 2p22.2-22.1(chr2:38105199-38892257)x3	ARHGEF33, ATL2 +36 more	Copy number gain	See cases	GUncertain significance
Select item 3313709	NM_001145451.5(ARHGEF33):c.11C>G (p.Thr4Ser)	ARHGEF33 (T4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220607	NM_001145451.5(ARHGEF33):c.11C>A (p.Thr4Asn)	ARHGEF33 (T4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527591	NM_001145451.5(ARHGEF33):c.17C>G (p.Thr6Arg)	ARHGEF33 (T6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129277	NM_001145451.5(ARHGEF33):c.67A>T (p.Ile23Phe)	ARHGEF33 (I23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272784	NM_001145451.5(ARHGEF33):c.163G>A (p.Glu55Lys)	ARHGEF33 (E55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490841	NM_001145451.5(ARHGEF33):c.238A>C (p.Lys80Gln)	ARHGEF33 (K80Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560323	NM_001145451.5(ARHGEF33):c.275C>A (p.Ala92Asp)	ARHGEF33 (A92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296627	NM_001145451.5(ARHGEF33):c.353T>C (p.Val118Ala)	ARHGEF33 (V118A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129276	NM_001145451.5(ARHGEF33):c.368C>T (p.Thr123Ile)	ARHGEF33 (T123I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313713	NM_001145451.5(ARHGEF33):c.385A>G (p.Ser129Gly)	ARHGEF33 (S129G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354358	NM_001145451.5(ARHGEF33):c.387C>G (p.Ser129Arg)	ARHGEF33 (S129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507735	NM_001145451.5(ARHGEF33):c.476A>G (p.Asn159Ser)	ARHGEF33 (N159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313733	NM_001145451.5(ARHGEF33):c.488C>T (p.Ser163Phe)	ARHGEF33 (S163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271288	NM_001145451.5(ARHGEF33):c.554T>A (p.Met185Lys)	ARHGEF33 (M185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357648	NM_001145451.5(ARHGEF33):c.617C>T (p.Ser206Leu)	ARHGEF33 (S206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532220	NM_001145451.5(ARHGEF33):c.632C>T (p.Ser211Phe)	ARHGEF33 (S211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318507	NM_001145451.5(ARHGEF33):c.689G>C (p.Gly230Ala)	ARHGEF33 (G230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277340	NM_001145451.5(ARHGEF33):c.718G>C (p.Asp240His)	ARHGEF33 (D240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286132	NM_001145451.5(ARHGEF33):c.839A>G (p.Tyr280Cys)	ARHGEF33 (Y280C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238964	NM_001145451.5(ARHGEF33):c.844A>G (p.Ile282Val)	ARHGEF33 (I282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556299	NM_001145451.5(ARHGEF33):c.915G>T (p.Glu305Asp)	ARHGEF33 (E305D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129279	NM_001145451.5(ARHGEF33):c.917G>A (p.Arg306Lys)	ARHGEF33 (R306K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313739	NM_001145451.5(ARHGEF33):c.927C>G (p.Phe309Leu)	ARHGEF33 (F309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313719	NM_001145451.5(ARHGEF33):c.1001G>C (p.Trp334Ser)	ARHGEF33 (W334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609896	NM_001145451.5(ARHGEF33):c.1069T>C (p.Tyr357His)	ARHGEF33 (Y357H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129267	NM_001145451.5(ARHGEF33):c.1130T>C (p.Leu377Pro)	ARHGEF33 (L377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308203	NM_001145451.5(ARHGEF33):c.1169C>A (p.Thr390Lys)	ARHGEF33 (T390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129268	NM_001145451.5(ARHGEF33):c.1213C>T (p.His405Tyr)	ARHGEF33 (H405Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129269	NM_001145451.5(ARHGEF33):c.1288C>T (p.Leu430Phe)	ARHGEF33 (L430F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393517	NM_001145451.5(ARHGEF33):c.1354C>T (p.Arg452Trp)	ARHGEF33 (R452W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553077	NM_001145451.5(ARHGEF33):c.1402G>C (p.Ala468Pro)	ARHGEF33 (A468P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235230	NM_001145451.5(ARHGEF33):c.1439C>G (p.Pro480Arg)	ARHGEF33 (P480R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129270	NM_001145451.5(ARHGEF33):c.1552G>C (p.Val518Leu)	ARHGEF33, LOC375196 (V518L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338778	NM_001145451.5(ARHGEF33):c.1587G>C (p.Glu529Asp)	ARHGEF33, LOC375196 (E529D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401251	NM_001145451.5(ARHGEF33):c.1621C>G (p.Leu541Val)	ARHGEF33, LOC375196 (L541V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334748	NM_001145451.5(ARHGEF33):c.1628G>A (p.Gly543Asp)	ARHGEF33, LOC375196 (G543D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291508	NM_001145451.5(ARHGEF33):c.1631G>A (p.Arg544Lys)	ARHGEF33, LOC375196 (R544K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129271	NM_001145451.5(ARHGEF33):c.1700C>T (p.Ala567Val)	ARHGEF33, LOC375196 (A567V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558968	NM_001145451.5(ARHGEF33):c.1726C>T (p.Pro576Ser)	ARHGEF33, LOC375196 (P576S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319396	NM_001145451.5(ARHGEF33):c.1825G>A (p.Val609Met)	ARHGEF33, LOC375196 (V609M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217443	NM_001145451.5(ARHGEF33):c.1934C>T (p.Pro645Leu)	ARHGEF33, LOC375196 (P645L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247891	NM_001145451.5(ARHGEF33):c.1962C>G (p.Ile654Met)	ARHGEF33, LOC375196 (I654M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494476	NM_001145451.5(ARHGEF33):c.2034G>C (p.Lys678Asn)	ARHGEF33, LOC375196 (K678N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129272	NM_001145451.5(ARHGEF33):c.2039C>G (p.Ala680Gly)	ARHGEF33, LOC375196 (A680G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129273	NM_001145451.5(ARHGEF33):c.2120G>A (p.Arg707His)	ARHGEF33 (R707H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228821	NM_001145451.5(ARHGEF33):c.2125C>A (p.Leu709Ile)	ARHGEF33 (L709I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129274	NM_001145451.5(ARHGEF33):c.2165C>T (p.Ala722Val)	ARHGEF33 (A722V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619730	NM_001145451.5(ARHGEF33):c.2170C>A (p.Arg724Ser)	ARHGEF33 (R724S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129275	NM_001145451.5(ARHGEF33):c.2197G>A (p.Gly733Ser)	ARHGEF33 (G733S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401537	NM_001145451.5(ARHGEF33):c.2212A>C (p.Ile738Leu)	ARHGEF33 (I738L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2650843	NC_000002.12:g.38962804G>A	ARHGEF33, SOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3025206	NC_000002.12:g.38962849C>A	ARHGEF33, SOS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3313727	NM_001145451.5(ARHGEF33):c.2429G>C (p.Arg810Thr)	ARHGEF33 (R810T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550785	NM_001145451.5(ARHGEF33):c.2501A>C (p.Tyr834Ser)	ARHGEF33 (Y834S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551165	NM_001145451.5(ARHGEF33):c.2537C>G (p.Pro846Arg)	ARHGEF33 (P846R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291048	NM_001145451.5(ARHGEF33):c.2572C>G (p.Leu858Val)	ARHGEF33 (L858V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1808399	GRCh37/hg19 2p22.1(chr2:39040762-39271911)x1	ARHGEF33, DHX57 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979968	GRCh37/hg19 2p22.2-22.1(chr2:38012532-39548268)x3	GALM, SRSF7 +12 more	Copy number gain	not provided	GUncertain significance
Select item 635956	NC_000002.11:g.39053852_42501893dup	SLC8A1, SOS1 +11 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 584365	NC_000002.11:g.(?_38297845)_(39347583_?)dup	ARHGEF33, ATL2 +9 more	Duplication	RASopathy	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	ABCG5, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 81