All transcript variants in gene CUBN

Information The variants shown are described using the NM_001081.3 transcript reference sequence.

148 entries on 2 pages. Showing entries 1 - 100.
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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     
+/+ 01-28 c.(?_-52)_4018+?del r.? p.? - pathogenic g.(?_17061982)_(17171816_?)del - del Exons 1-28 - CUBN_000010 1 Pakistani MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 01-25 c.(?_-52)_(*1009_?)del r.0 p.0 - pathogenic g.(?_16865965)_(17171816_?)del - complete CUBN gene deletion - CUBN_000007 1 German (com-het) and 1 Spanish MGA1 family (com-het); Hauck-1 mutation PubMed: Hauck et al. 2008, PubMed: Tanner et al. 2012 - - SUMMARY record yes - - 0 - Anne Polvi
-/. - c.123-16C>G r.(=) p.(=) - benign g.17171265G>C g.17129266G>C CUBN(NM_001081.3):c.123-16C>G - CUBN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.196G>A r.(?) p.(Gly66Arg) - likely benign g.17171176C>T g.17129177C>T - - CUBN_000128 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs12259370 Germline - 3/2795 individuals - 0 - Mohammed Faruq
+/+ 02 c.250C>T r.(250c>u) p.(Gln84*) - pathogenic g.17171122G>A g.17129123G>A - - CUBN_000003 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 02i c.252+1G>A r.spl? p.? - likely pathogenic g.17171119C>T g.17129120C>T - - CUBN_000009 1 Pakistani MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 05 c.434G>A r.(434g>a) p.(Gly145Glu) - likely pathogenic g.17165642C>T g.17123643C>T - - CUBN_000004 2 Bedouin MGA1 families (hom) PubMed: Tanner et al. 2004, PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 05 c.489G>A r.489_490ins137 p.Gly164fs - pathogenic g.17165587C>T g.17123588C>T C.489_490ins137bp; p.Gly164fs - CUBN_000011 1 German MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/. - c.591C>G r.(?) p.(Tyr197Ter) - pathogenic g.17164796G>C g.17122797G>C CUBN(NM_001081.3):c.591C>G - CUBN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.593+21del r.(=) p.(=) - benign g.17164788del g.17122789del CUBN(NM_001081.3):c.593+21delT - CUBN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/+? 07 c.673T>A r.(673u>a) p.(Cys225Ser) - likely pathogenic g.17157517A>T g.17115518A>T - - CUBN_000012 1 Norwegian MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
-?/. - c.736G>A r.(?) p.(Val246Ile) - likely benign g.17156173C>T g.17114174C>T CUBN(NM_001081.3):c.736G>A (p.V246I) - CUBN_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.758T>C r.(?) p.(Phe253Ser) - benign g.17156151A>G g.17114152A>G CUBN(NM_001081.3):c.758T>C (p.F253S) - CUBN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 09 c.889C>T r.(889c>u) p.(Gln297*) - pathogenic g.17153044G>A g.17111045G>A - - CUBN_000013 1 German MGA1 patient (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
-/. - c.1003G>A r.(?) p.(Ala335Thr) - benign g.17152930C>T g.17110931C>T CUBN(NM_001081.3):c.1003G>A (p.A335T) - CUBN_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 09 c.1010C>T r.(1010c>u) p.(Pro337Leu) - likely pathogenic g.17152923G>A g.17110924G>A - - CUBN_000008 1 German and 2 European MGA1 families (com-het) PubMed: Hauck et al. 2008, PubMed: Tanner et al. 2012 - rs202153130 SUMMARY record yes - - - - Anne Polvi
?/. - c.1088A>G r.(?) p.(Asp363Gly) - VUS g.17151662T>C g.17109663T>C CUBN(NM_001081.3):c.1088A>G (p.D363G) - CUBN_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1165C>A r.(?) p.(Pro389Thr) - benign g.17147521G>T g.17105522G>T CUBN(NM_001081.3):c.1165C>A (p.P389T) - CUBN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/+? 11i c.1230+1G>A r.spl? p.? - likely pathogenic g.17147455C>T g.17105456C>T - - CUBN_000005 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
-?/. - c.1236T>C r.(?) p.(Thr412=) - likely benign g.17146599A>G g.17104600A>G CUBN(NM_001081.3):c.1236T>C (p.T412=) - CUBN_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 13 c.1436C>G r.(1436c>g) p.(Ser479*) - pathogenic g.17145218G>C g.17103219G>C p.Leu479* - CUBN_000015 1 Spanish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
-?/. - c.1470G>A r.(?) p.(Pro490=) - likely benign g.17145184C>T g.17103185C>T CUBN(NM_001081.3):c.1470G>A (p.P490=) - CUBN_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 13 c.1526del r.(?) p.(Gly509Glufs*13) - pathogenic g.17145130del g.17103131del p.Gly509fs - CUBN_000016 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 13 c.1530G>A r.1418_1530del p.Val473Glyfs*26 - pathogenic g.17145124C>T g.17103125C>T - - CUBN_000017 1 German MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
?/. - c.1537C>T r.(?) p.(Arg513Cys) - VUS g.17142232G>A g.17100233G>A CUBN(NM_001081.3):c.1537C>T (p.R513C) - CUBN_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1558C>T r.(?) p.(Arg520Trp) - VUS g.17142211G>A g.17100212G>A CUBN(NM_001081.3):c.1558C>T (p.R520W) - CUBN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1606G>A r.(?) p.(Asp536Asn) - - g.17142163C>T - CUBN(NM_001081.3):c.1606G>A (p.D536N) - CUBN_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1780C>G r.(?) p.(Leu594Val) - VUS g.17130330G>C g.17088331G>C CUBN(NM_001081.3):c.1780C>G (p.L594V) - CUBN_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 15 c.1838del r.(?) p.(Gly613Glufs*9) - pathogenic g.17130273del g.17088274del p.Gly613fs - CUBN_000018 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 15 c.1865del r.(?) p.(Thr622Ilefs*7) - pathogenic g.17130245del g.17088246del - - CUBN_000019 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 16 c.1951C>G r.(1951c>g) p.(Arg651Gly) - likely pathogenic g.17127755G>C g.17085756G>C - - CUBN_000020 1 Taiwan (Han) MGA1 family (het) PubMed: Tanner et al. 2012 - rs182512508 SUMMARY record yes - - - - Anne Polvi
+/+ 16 c.1951C>T r.(1951C>T) p.(Arg651*) - pathogenic g.17127755G>A g.17085756G>A - - CUBN_000006 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
?/? 16 c.2068A>G r.(2068a>g) p.(Ile690Val) - VUS g.17127638T>C g.17085639T>C - - CUBN_000021 1 Swedish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
-/. - c.2445C>T r.(?) p.(Val815=) - benign g.17113827G>A g.17071828G>A CUBN(NM_001081.3):c.2445C>T (p.V815=) - CUBN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2461T>G r.(?) p.(Leu821Val) - - g.17113589A>C - CUBN(NM_001081.3):c.2461T>G (p.L821V) - CUBN_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 19 c.2486C>T r.(2486c>u) p.(Ser829Leu) - likely pathogenic g.17113564G>A g.17071565G>A - - CUBN_000022 1 Dutch MGA1 patient (het) PubMed: Tanner et al. 2012 - - SUMMARY record - - - - - Anne Polvi
-/. - c.2487G>A r.(?) p.(Ser829=) - benign g.17113563C>T g.17071564C>T CUBN(NM_001081.3):c.2487G>A (p.S829=) - CUBN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 19 c.2515_2533del r.(?) p.(Glu839Profs*55) - pathogenic g.17113521_17113539del g.17071522_17071540del c.2511_2529del - CUBN_000023 1 English MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 19 c.2594G>A r.(2594g>a) p.(Ser865Asn) - likely pathogenic g.17113456C>T g.17071457C>T - - CUBN_000024 3 MGA1 families: Albanian, Scottish and Turkish PubMed: Tanner et al. 2012 - rs138083522 SUMMARY record yes - - - - Anne Polvi
-/. - c.2594G>A r.(?) p.(Ser865Asn) - benign g.17113456C>T g.17071457C>T CUBN(NM_001081.3):c.2594G>A (p.S865N) - CUBN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+ 19 c.2614_2615del r.(?) p.(Asp872Leufs*3) - pathogenic g.17113436_17113437del g.17071437_17071438del p.Asp872fs - CUBN_000025 2 Ashkenazi MGA1 patients (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
?/. - c.2625G>T r.(?) p.(Glu875Asp) - VUS g.17113425C>A g.17071426C>A CUBN(NM_001081.3):c.2625G>T (p.E875D) - CUBN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 20 c.2673C>A r.(2673c>a) p.(Cys891*) - pathogenic g.17110722G>T g.17068723G>T - - CUBN_000026 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
?/. - c.2738G>C r.(?) p.(Ser913Thr) - VUS g.17110657C>G g.17068658C>G CUBN(NM_001081.3):c.2738G>C (p.S913T) - CUBN_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2756A>G r.(?) p.(His919Arg) - likely benign g.17110639T>C g.17068640T>C CUBN(NM_001081.3):c.2756A>G (p.H919R) - CUBN_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2791+9C>T r.(=) p.(=) - benign g.17110595G>A g.17068596G>A CUBN(NM_001081.3):c.2791+9C>T - CUBN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.2840G>A r.(?) p.(Gly947Asp) - VUS g.17110231C>T g.17068232C>T CUBN(NM_001081.3):c.2840G>A (p.G947D) - CUBN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 21 c.2949C>A r.(2949c>a) p.(Tyr983*) - pathogenic g.17110122G>T g.17068123G>T - - CUBN_000027 1 Spanish MGA1 patient (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 22 c.3056C>G r.(3056c>g) p.(Ser1019*) - pathogenic g.17107590G>C g.17065591G>C - - CUBN_000028 1 Algerian MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 22 c.3096del r.(?) p.(Tyr1032*) - pathogenic g.17107550del g.17065551del p.Thr1032* - CUBN_000029 1 Northern European MGA1 family (het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
?/. - c.3211A>G r.(?) p.(Asn1071Asp) - VUS g.17089531T>C g.17047532T>C CUBN(NM_001081.3):c.3211A>G (p.N1071D) - CUBN_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3282C>T r.(?) p.(Ser1094=) - likely benign g.17089460G>A g.17047461G>A CUBN(NM_001081.3):c.3282C>T (p.S1094=) - CUBN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3292G>T r.(?) p.(Ala1098Ser) - benign g.17089450C>A g.17047451C>A CUBN(NM_001081.3):c.3292G>T (p.A1098S) - CUBN_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 23i c.3330-439C>G r.[3329_3330ins66, 3329_3330ins125] p.0 - pathogenic g.17088532G>C g.17046533G>C IVS23-439C>G (FM2) - CUBN_000002 1 Finnish MGA1 family (hom), 1 Swedish MGA1 family (com-het) PubMed: Aminoff et al. 1999, PubMed: Tanner et al. 2004, PubMed: Tanner et al. 2012 - - SUMMARY record yes 0/151 CON - 0 - Anne Polvi
-?/. - c.3354A>G r.(?) p.(Pro1118=) - likely benign g.17088069T>C g.17046070T>C CUBN(NM_001081.3):c.3354A>G (p.P1118=) - CUBN_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3374G>T r.(?) p.(Gly1125Val) - VUS g.17088049C>A g.17046050C>A - - CUBN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 25 c.3577T>G r.(3577u>g) p.(Trp1193Gly) - likely pathogenic g.17087101A>C g.17045102A>C - - CUBN_000031 1 Moroccan MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
-?/. - c.3604G>A r.(?) p.(Ala1202Thr) - likely benign g.17087074C>T g.17045075C>T CUBN(NM_001081.3):c.3604G>A (p.A1202T) - CUBN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.3630T>G r.(?) p.(Phe1210Leu) - VUS g.17087048A>C g.17045049A>C CUBN(NM_001081.3):c.3630T>G (p.F1210L) - CUBN_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 26 c.3749C>T r.(3749c>u) p.(Ser1250Phe) - likely pathogenic g.17085906G>A g.17043907G>A - - CUBN_000032 1 Turkish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 27 c.3890C>T r.(3890c>u) p.(Pro1297Leu) - pathogenic g.17083159G>A g.17041160G>A 3916C>T (FM1) Finnish Major mutation - CUBN_000001 Finnish Major MGA1 mutation: 4 Finnish MGA1 patients, 19 Finnish MGA1 families (18 hom and 1 com-het) PubMed: Tanner et al. 2012, PubMed: Aminoff et al. 1999, PubMed: Tanner et al. 2004, dbSNP - rs121434430 SUMMARY record yes 1/158 CON (het) - 0 - Anne Polvi
+/+ 27 c.3999C>A r.(3999c>a) p.(Cys1333*) - pathogenic g.17083050G>T g.17041051G>T - - CUBN_000034 1 Finnish MGA1 family (het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
?/. - c.4031C>G r.(?) p.(Pro1344Arg) - VUS g.17061969G>C g.17019970G>C CUBN(NM_001081.3):c.4031C>G (p.P1344R) - CUBN_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4058T>A r.(?) p.(Val1353Glu) - likely benign g.17061942A>T g.17019943A>T CUBN(NM_001081.3):c.4058T>A (p.V1353E) - CUBN_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4092C>G r.(?) p.(Ser1364=) - - g.17061908G>C - CUBN(NM_001081.3):c.4092C>G (p.S1364=) - CUBN_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 28 c.4115C>G r.(4115c>g) p.(Thr1372Arg) - likely pathogenic g.17061885G>C g.17019886G>C - - CUBN_000035 2 Turkish MGA1 families (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/. - c.4165del r.(?) p.(Tyr1389ThrfsTer74) - pathogenic g.17061837del g.17019838del CUBN(NM_001081.3):c.4165delT (p.Y1389Tfs*74) - CUBN_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/+? 28 c.4168G>A r.(4168g>a) p.(Gly1390Ser) - likely pathogenic g.17061832C>T g.17019833C>T - - CUBN_000036 1 English MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
-?/. - c.4200C>T r.(?) p.(Gly1400=) - likely benign g.17032483G>A g.16990484G>A CUBN(NM_001081.3):c.4200C>T (p.G1400=) - CUBN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.4563T>A r.(?) p.(Ile1521=) - benign g.17024615A>T g.16982616A>T CUBN(NM_001081.3):c.4563T>A (p.I1521=) - CUBN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.4675C>T r.(?) p.(Pro1559Ser) - benign g.17024503G>A g.16982504G>A CUBN(NM_001081.3):c.4675C>T (p.P1559S) - CUBN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.4964C>G r.(?) p.(Pro1655Arg) - VUS g.16994280G>C g.16952281G>C CUBN(NM_001081.3):c.4964C>G (p.P1655R) - CUBN_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.5134C>T r.(=) p.(=) - benign g.16990552G>A g.16948553G>A - - CUBN_000127 208 heterozygous; Clinindb (India) Faruq 2020, submtted - rs2271468 Germline - 208/2794 individuals - 0 - Mohammed Faruq
-/. - c.5134C>T r.(=) p.(=) - benign g.16990552G>A g.16948553G>A - - CUBN_000127 18 homozygous; Clinindb (India) Faruq 2020, submtted - rs2271468 Germline - 18/2794 individuals - 0 - Mohammed Faruq
-?/. - c.5196C>T r.(?) p.(Thr1732=) - likely benign g.16990490G>A g.16948491G>A CUBN(NM_001081.3):c.5196C>T (p.T1732=) - CUBN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.5207C>T r.(?) p.(Ser1736Leu) - benign g.16990479G>A g.16948480G>A CUBN(NM_001081.3):c.5207C>T (p.S1736L) - CUBN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5323C>T r.(?) p.(Arg1775Trp) - likely benign g.16989253G>A g.16947254G>A CUBN(NM_001081.3):c.5323C>T (p.R1775W) - CUBN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.5412G>T r.(?) p.(Thr1804=) - likely benign g.16982167C>A g.16940168C>A CUBN(NM_001081.3):c.5412G>T (p.T1804=) - CUBN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.5428C>T r.(?) p.(Arg1810Ter) - pathogenic g.16982151G>A g.16940152G>A - - CUBN_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.5518G>A r.(?) p.(Gly1840Ser) - benign g.16982061C>T g.16940062C>T CUBN(NM_001081.3):c.5518G>A (p.G1840S) - CUBN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.5518G>A r.(?) p.(Gly1840Ser) - benign g.16982061C>T g.16940062C>T - - CUBN_000099 206 heterozygous; Clinindb (India) Faruq 2020, submtted - rs2271462 Germline - 206/2795 individuals - 0 - Mohammed Faruq
-/. - c.5518G>A r.(?) p.(Gly1840Ser) - benign g.16982061C>T g.16940062C>T - - CUBN_000099 19 homozygous; Clinindb (India) Faruq 2020, submtted - rs2271462 Germline - 19/2795 individuals - 0 - Mohammed Faruq
-?/. - c.5522C>T r.(?) p.(Thr1841Met) - likely benign g.16982057G>A g.16940058G>A CUBN(NM_001081.3):c.5522C>T (p.T1841M) - CUBN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.5626T>G r.(?) p.(Ser1876Ala) - VUS g.16981069A>C g.16939070A>C CUBN(NM_001081.3):c.5626T>G (p.S1876A) - CUBN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5680A>G r.(?) p.(Ile1894Val) - likely benign g.16981015T>C g.16939016T>C CUBN(NM_001081.3):c.5680A>G (p.I1894V) - CUBN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5759C>T r.(?) p.(Ala1920Val) - VUS g.16979758G>A g.16937759G>A CUBN(NM_001081.3):c.5759C>T (p.A1920V) - CUBN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.5803A>G r.(?) p.(Ser1935Gly) - benign g.16979714T>C g.16937715T>C CUBN(NM_001081.3):c.5803A>G (p.S1935G) - CUBN_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.5840C>A r.(?) p.(Ser1947Tyr) - VUS g.16979677G>T g.16937678G>T - - CUBN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.5856A>G r.(?) p.(Ser1952=) - benign g.16979661T>C g.16937662T>C CUBN(NM_001081.3):c.5856A>G (p.S1952=) - CUBN_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.5911C>A r.(?) p.(Pro1971Thr) - benign g.16979606G>T g.16937607G>T - - CUBN_000126 208 heterozygous; Clinindb (India) Faruq 2020, submtted - rs2356590 Germline - 208/2795 individuals - 0 - Mohammed Faruq
-/. - c.5911C>A r.(?) p.(Pro1971Thr) - benign g.16979606G>T g.16937607G>T - - CUBN_000126 18 homozygous; Clinindb (India) Faruq 2020, submtted - rs2356590 Germline - 18/2795 individuals - 0 - Mohammed Faruq
-?/. - c.5924C>T r.(?) p.(Pro1975Leu) - likely benign g.16979593G>A g.16937594G>A - - CUBN_000125 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs41289303 Germline - 5/2795 individuals - 0 - Mohammed Faruq
?/. - c.5926+5G>A r.spl? p.? - VUS g.16979586C>T g.16937587C>T CUBN(NM_001081.3):c.5926+5G>A - CUBN_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.6095G>A r.(?) p.(Cys2032Tyr) - VUS g.16975115C>T g.16933116C>T - - CUBN_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.6124+8C>T r.(=) p.(=) - benign g.16975078G>A g.16933079G>A CUBN(NM_001081.3):c.6124+8C>T - CUBN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.6142C>G r.(?) p.(Gln2048Glu) - likely benign g.16970285G>C g.16928286G>C CUBN(NM_001081.3):c.6142C>G (p.Q2048E) - CUBN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.6364G>A r.(?) p.(Val2122Ile) - VUS g.16967681C>T g.16925682C>T CUBN(NM_001081.3):c.6364G>A (p.V2122I) - CUBN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 43 c.6479A>G r.(?) p.(Asp2160Gly) - VUS g.16967407T>C g.16925408T>C - - CUBN_000037 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Unknown - - - 0 - Elisabet Ars Criach
-/. - c.6485G>A r.(?) p.(Cys2162Tyr) - benign g.16967401C>T g.16925402C>T CUBN(NM_001081.3):c.6485G>A (p.C2162Y) - CUBN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.6661G>A r.(?) p.(Val2221Ile) - likely benign g.16962122C>T g.16920123C>T CUBN(NM_001081.3):c.6661G>A (p.V2221I) - CUBN_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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Genomic reference sequence: hg19 (GRCh37)