All variants in the CDC42 gene

Information The variants shown are described using the NM_001039802.1 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.-1838671_*472400del r.0? p.0? - pathogenic g.20540741_22890410del g.20214248_22563917del - - HSPG2_000007 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. - c.62T>C r.(?) p.(Ile21Thr) - pathogenic (dominant) g.22405033T>C g.22078540T>C - - CDC42_000013 ACMG PS2, PM1, PM2, PP2, PP3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+?/. - c.67T>A r.(?) p.(Tyr23Asn) - likely pathogenic g.22405038T>A g.22078545T>A - - CDC42_000007 - - - - Unknown - - - - - IMGAG
+/. - c.68A>G r.(?) p.(Tyr23Cys) - pathogenic g.22405039A>G g.22078546A>G - - CDC42_000008 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044916 Germline - 4/2795 individuals - - - Mohammed Faruq
+?/. - c.68A>G r.(?) p.(Tyr23Cys) ACMG likely pathogenic (dominant) g.22405039A>G - - - CDC42_000008 - - - - De novo - - - - - Johan den Dunnen
+/. - c.68A>G r.(?) p.(Tyr23Cys) - pathogenic (dominant) g.22405039A>G g.22078546A>G - - CDC42_000008 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
?/. - c.90G>A r.(?) p.(Ser30=) - VUS g.22405061G>A g.22078568G>A CDC42(NM_001039802.1):c.90G>A (p.(=)) - CDC42_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.106-9dup r.(=) p.(=) - benign g.22408206dup - CDC42(NM_001039802.2):c.106-9dupT, CDC42(NM_001791.4):c.106-9dup - CDC42_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.106-9dup r.(=) p.(=) - likely benign g.22408206dup - CDC42(NM_001039802.2):c.106-9dupT, CDC42(NM_001791.4):c.106-9dup - CDC42_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.106-3T>C r.spl? p.? - benign g.22408212T>C g.22081719T>C CDC42(NM_001039802.1):c.106-3T>C (p.?), CDC42(NM_001039802.2):c.106-3T>C - CDC42_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.106-3T>C r.spl? p.? - likely benign g.22408212T>C - CDC42(NM_001039802.1):c.106-3T>C (p.?), CDC42(NM_001039802.2):c.106-3T>C - CDC42_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.107T>C r.(?) p.(Val36Ala) - VUS g.22408216T>C g.22081723T>C - - CDC42_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.179-371A>T r.(=) p.(=) - likely benign g.22412561A>T - CDC42(NM_001791.4):c.179-371A>T - CDC42_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.191A>G r.(?) p.(Tyr64Cys) - pathogenic g.22412944A>G g.22086451A>G - - CDC42_000001 - PubMed: Takenouchi 2015, Journal: Takenouchi 2015, OMIM:var0001 - - De novo - - - - - Johan den Dunnen
+/. 5 c.191A>G r.(?) p.(Tyr64Cys) - pathogenic g.22412944A>G g.22086451A>G - - CDC42_000001 - PubMed: Takenouchi 2016, Journal: Takenouchi 2016, OMIM:var0001 - - De novo - - - - - Johan den Dunnen
+/. - c.191A>G r.(?) p.(Tyr64Cys) - pathogenic (dominant) g.22412944A>G - - - CDC42_000001 - PubMed: Motokawa 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.191A>G r.(?) p.(Tyr64Cys) - pathogenic (dominant) g.22412944A>G g.22086451A>G - - CDC42_000001 - PubMed: Takenouchi 2016 - - De novo - - - - - Johan den Dunnen
+/. - c.191A>G r.(?) p.(Tyr64Cys) - pathogenic (dominant) g.22412944A>G g.22086451A>G - - CDC42_000001 - PubMed: Takenouchi 2015 - - De novo - - - - - Johan den Dunnen
+/. - c.191A>G r.(?) p.(Tyr64Cys) - pathogenic (dominant) g.22412944A>G g.22086451A>G - - CDC42_000001 ACMG PS1, PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.191A>G r.(?) p.(Tyr64Cys) - pathogenic (dominant) g.22412944A>G - - - CDC42_000001 - PubMed: Uehara 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.191A>G r.(?) p.(Tyr64Cys) - pathogenic (dominant) g.22412944A>G - - - CDC42_000001 - PubMed: Bucciol 2020 - - De novo - - - - - Johan den Dunnen
+/. - c.196A>G r.(?) p.(Arg66Gly) - pathogenic (dominant) g.22412949A>G g.22086456A>G - - CDC42_000014 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.196A>G r.(?) p.(Arg66Gly) - pathogenic (dominant) g.22412949A>G g.22086456A>G - - CDC42_000014 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.203G>A r.(?) p.(Arg68Gln) - pathogenic (dominant) g.22412956G>A g.22086463G>A - - CDC42_000015 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.203G>A r.(?) p.(Arg68Gln) - pathogenic (dominant) g.22412956G>A g.22086463G>A - - CDC42_000015 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.242G>T r.(?) p.(Cys81Phe) - pathogenic (dominant) g.22412995G>T g.22086502G>T - - CDC42_000016 ACMG PS2, PM1, PM2, PP2, PP3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.247T>C r.(?) p.(Ser83Pro) - pathogenic (dominant) g.22413000T>C g.22086507T>C - - CDC42_000017 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.247T>C r.(?) p.(Ser83Pro) - pathogenic (dominant) g.22413000T>C g.22086507T>C - - CDC42_000017 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
-/. - c.276C>T r.(?) p.(Asn92=) - benign g.22413029C>T - CDC42(NM_001039802.1):c.276C>T (p.(Asn92=)), CDC42(NM_001791.4):c.276C>T (p.N92=) - CDC42_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.276C>T r.(?) p.(Asn92=) - likely benign g.22413029C>T - CDC42(NM_001039802.1):c.276C>T (p.(Asn92=)), CDC42(NM_001791.4):c.276C>T (p.N92=) - CDC42_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.353A>G r.(?) p.(Asp118Gly) - VUS g.22413226A>G g.22086733A>G CDC42(NM_001039802.2):c.353A>G (p.D118G) - CDC42_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.353A>G r.(?) p.(Asp118Gly) - VUS g.22413226A>G g.22086733A>G - - CDC42_000006 - PubMed: Imafidon 2021 - - De novo - - - - - Johan den Dunnen
-/. - c.462T>C r.(?) p.(Tyr154=) - benign g.22413335T>C - CDC42(NM_001039802.1):c.462T>C (p.(Tyr154=)), CDC42(NM_001039802.2):c.462T>C (p.Y154=) - CDC42_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.462T>C r.(?) p.(Tyr154=) - benign g.22413335T>C - CDC42(NM_001039802.1):c.462T>C (p.(Tyr154=)), CDC42(NM_001039802.2):c.462T>C (p.Y154=) - CDC42_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.476C>T r.(?) p.(Ala159Val) - pathogenic (dominant) g.22413349C>T g.22086856C>T - - CDC42_000018 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
-?/. - c.486+463G>A r.(=) p.(=) - likely benign g.22413822G>A - CDC42(NM_001791.4):c.486+463G>A - CDC42_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.487-4T>A r.spl? p.? - likely benign g.22417917T>A - CDC42(NM_001791.4):c.487-4T>A - CDC42_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.498G>T r.(?) p.(Lys166Asn) - VUS g.22417932G>T - CDC42(NM_001791.3):c.498G>T (p.(Lys166Asn)) - CDC42_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.508G>A r.(?) p.(Asp170Asn) - VUS g.22417942G>A g.22091449G>A CDC42(NM_001791.3):c.508G>A (p.(Asp170Asn)) - CDC42_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.511G>A r.(?) p.(Glu171Lys) - pathogenic (dominant) g.22417945G>A g.22091452G>A - - CDC42_000019 ACMG PS2, PS3 PubMed: Martinelli 2018 - - De novo - - - - - Johan den Dunnen
+/. - c.511G>A r.(?) p.(Glu171Lys) - pathogenic (dominant) g.22417945G>A g.22091452G>A - - CDC42_000019 ACMG PS2, PS3 PubMed: Martinelli 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.511G>A r.(?) p.(Glu171Lys) - pathogenic (dominant) g.22417945G>A g.22091452G>A - - CDC42_000019 ACMG PS2, PS3 PubMed: Martinelli 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.511G>A r.(?) p.(Glu171Lys) - pathogenic (dominant) g.22417945G>A g.22091452G>A - - CDC42_000019 ACMG PS2, PS3 PubMed: Martinelli 2018 - - Germline - - - - - Johan den Dunnen
+/. 7 c.556C>T r.(?) p.(Arg186Cys) - pathogenic (dominant) g.22417990C>T g.22091497C>T - - CDC42_000011 - PubMed: Lam 2019 - - De novo - - - - - Johan den Dunnen
+/. 7 c.556C>T r.(?) p.(Arg186Cys) - pathogenic (dominant) g.22417990C>T g.22091497C>T - - CDC42_000011 - PubMed: Lam 2019 - - De novo - - - - - Johan den Dunnen
+/. 7 c.556C>T r.(?) p.(Arg186Cys) - pathogenic (dominant) g.22417990C>T g.22091497C>T - - CDC42_000011 - PubMed: Lam 2019 - - De novo - - - - - Johan den Dunnen
+/. 7 c.556C>T r.(?) p.(Arg186Cys) - pathogenic (dominant) g.22417990C>T g.22091497C>T - - CDC42_000011 - PubMed: Lam 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.556C>T r.(?) p.(Arg186Cys) - pathogenic (dominant) g.22417990C>T g.22091497C>T - - CDC42_000011 - PubMed: Gernez 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.563G>A r.(?) p.(Cys188Tyr) - pathogenic (dominant) g.22417997G>A g.22091504G>A - - CDC42_000012 - PubMed: Gernez 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.563G>A r.(?) p.(Cys188Tyr) - pathogenic (dominant) g.22417997G>A g.22091504G>A - - CDC42_000012 - PubMed: Gernez 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.576A>C r.(?) p.(*192Cysext*24) - pathogenic (dominant) g.22418010A>C g.22091517A>C - - CDC42_000002 - PubMed: Gernez 2019 - - De novo - - - - - Johan den Dunnen
-?/. - c.*6T>C r.(=) p.(=) - likely benign g.22418016T>C g.22091523T>C CDC42(NM_001039802.2):c.*6T>C - CDC42_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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