CDC42EP3[gene] - ClinVar

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Items: 43

	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 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 2602891	NM_006449.5(CDC42EP3):c.655A>G (p.Lys219Glu)	CDC42EP3 (K219E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364420	NM_006449.5(CDC42EP3):c.641T>C (p.Ile214Thr)	CDC42EP3 (I214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509470	NM_006449.5(CDC42EP3):c.628C>A (p.Pro210Thr)	CDC42EP3 (P210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614549	NM_006449.5(CDC42EP3):c.623C>G (p.Pro208Arg)	CDC42EP3 (P208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240492	NM_006449.5(CDC42EP3):c.614T>G (p.Phe205Cys)	CDC42EP3 (F205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350913	NM_006449.5(CDC42EP3):c.604G>A (p.Glu202Lys)	CDC42EP3 (E202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457311	NM_006449.5(CDC42EP3):c.592G>A (p.Asp198Asn)	CDC42EP3 (D198N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140934	NM_006449.5(CDC42EP3):c.526G>A (p.Gly176Ser)	CDC42EP3 (G176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511852	NM_006449.5(CDC42EP3):c.461A>T (p.Gln154Leu)	CDC42EP3 (Q154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341755	NM_006449.5(CDC42EP3):c.445A>T (p.Met149Leu)	CDC42EP3 (M149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467086	NM_006449.5(CDC42EP3):c.435C>G (p.Cys145Trp)	CDC42EP3 (C145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265019	NM_006449.5(CDC42EP3):c.406G>C (p.Gly136Arg)	CDC42EP3 (G136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509266	NM_006449.5(CDC42EP3):c.406G>A (p.Gly136Arg)	CDC42EP3 (G136R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140932	NM_006449.5(CDC42EP3):c.370T>G (p.Ser124Ala)	CDC42EP3 (S124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533450	NM_006449.5(CDC42EP3):c.293C>T (p.Thr98Met)	CDC42EP3 (T98M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207828	NM_006449.5(CDC42EP3):c.277T>C (p.Ser93Pro)	CDC42EP3 (S93P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140931	NM_006449.5(CDC42EP3):c.266G>A (p.Ser89Asn)	CDC42EP3 (S89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286738	NM_006449.5(CDC42EP3):c.264C>A (p.Asn88Lys)	CDC42EP3 (N88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265018	NM_006449.5(CDC42EP3):c.168T>G (p.Ile56Met)	CDC42EP3 (I56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215848	NM_006449.5(CDC42EP3):c.167T>C (p.Ile56Thr)	CDC42EP3 (I56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3349806	NM_006449.5(CDC42EP3):c.158T>C (p.Phe53Ser)	CDC42EP3 (F53S)	Single nucleotide variant (missense variant)	CDC42EP3-related condition	GUncertain significance
Select item 2252034	NM_006449.5(CDC42EP3):c.137A>G (p.Lys46Arg)	CDC42EP3 (K46R)	Single nucleotide variant (missense variant)	not provided +1 more	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 3062619	GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3	CDC42EP3, CEBPZ +10 more	Copy number gain	not specified	GUncertain significance
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
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 979973	GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3	CRIM1, SULT6B1 +12 more	Copy number gain	not provided	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 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: 43