Full data view for gene CUBN

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

302 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 01-28 c.(?_-52)_4018+?del r.? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 01-25 c.(?_-52)_(*1009_?)del r.0 p.0 Maternal (confirmed) - 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 - - - - - - - - - - - - - - - - - - - - - -
-/. - c.123-16C>G r.(=) p.(=) Unknown - benign g.17171265G>C g.17129266G>C CUBN(NM_001081.4):c.123-16C>G - CUBN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.127C>T r.(?) p.(Arg43*) Unknown - likely benign g.17171245G>A - c.127C>T - CUBN_000153 - PubMed: _Audo-2012 - - Unknown - - - - - DNA SEQ, SEQ-NG-S blood - retinal disease - PubMed: _Audo-2012 - - - - - - - - - 1 LOVD
-?/. - c.175C>G r.(?) p.(Gln59Glu) Unknown - likely benign g.17171197G>C - CUBN(NM_001081.3):c.175C>G (p.Q59E) - CUBN_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196G>A r.(?) p.(Gly66Arg) Parent #1 - likely benign g.17171176C>T g.17129177C>T - - CUBN_000128 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12259370 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/+ 02 c.250C>T r.(250c>u) p.(Gln84*) Both (homozygous) - pathogenic g.17171122G>A g.17129123G>A - - CUBN_000003 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.250C>T r.(?) p.(Gln84*) Unknown - pathogenic g.17171122G>A - CUBN(NM_001081.3):c.250C>T (p.Q84*) - CUBN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 02i c.252+1G>A r.spl? p.? Unknown - likely pathogenic g.17171119C>T g.17129120C>T - - CUBN_000009 1 Pakistani MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348+17C>T r.(=) p.(=) Unknown - likely benign g.17169811G>A - CUBN(NM_001081.3):c.348+17C>T - CUBN_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 05 c.434G>A r.(434g>a) p.(Gly145Glu) Both (homozygous) - 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 05 c.489G>A r.489_490ins137 p.Gly164fs Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
+/. - c.591C>G r.(?) p.(Tyr197Ter) Unknown - pathogenic g.17164796G>C g.17122797G>C CUBN(NM_001081.3):c.591C>G - CUBN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.593+21del r.(=) p.(=) Unknown - benign g.17164788del g.17122789del CUBN(NM_001081.3):c.593+21delT, CUBN(NM_001081.4):c.593+21delT - CUBN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.593+21del r.(=) p.(=) Unknown - benign g.17164788del - CUBN(NM_001081.3):c.593+21delT, CUBN(NM_001081.4):c.593+21delT - CUBN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594-16C>T r.(=) p.(=) Unknown - likely benign g.17157612G>A - CUBN(NM_001081.3):c.594-16C>T - CUBN_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594-13G>A r.(=) p.(=) Unknown - likely benign g.17157609C>T - CUBN(NM_001081.3):c.594-13G>A - CUBN_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657G>A r.(?) p.(Gly219=) Unknown - likely benign g.17157533C>T - CUBN(NM_001081.3):c.657G>A (p.G219=) - CUBN_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 07 c.673T>A r.(673u>a) p.(Cys225Ser) Both (homozygous) - likely pathogenic g.17157517A>T g.17115518A>T - - CUBN_000012 1 Norwegian MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.736G>A r.(?) p.(Val246Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.758T>C r.(?) p.(Phe253Ser) Unknown - benign g.17156151A>G g.17114152A>G CUBN(NM_001081.4):c.758T>C (p.F253S) - CUBN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.791G>C r.(?) p.(Arg264Thr) Unknown - likely benign g.17156118C>G - CUBN(NM_001081.3):c.791G>C (p.R264T) - CUBN_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 09 c.889C>T r.(889c>u) p.(Gln297*) Unknown - pathogenic g.17153044G>A g.17111045G>A - - CUBN_000013 1 German MGA1 patient (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Glu304Lys) Unknown - likely benign g.17153023C>T - CUBN(NM_001081.3):c.910G>A (p.E304K), CUBN(NM_001081.4):c.910G>A (p.(Glu304Lys)) - CUBN_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Glu304Lys) Unknown - likely benign g.17153023C>T - CUBN(NM_001081.3):c.910G>A (p.E304K), CUBN(NM_001081.4):c.910G>A (p.(Glu304Lys)) - CUBN_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.963C>T r.(?) p.(Pro321=) Unknown - benign g.17152970G>A - CUBN(NM_001081.3):c.963C>T (p.P321=) - CUBN_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1000C>T r.(?) p.(Gln334Ter) Unknown - pathogenic g.17152933G>A - CUBN(NM_001081.3):c.1000C>T (p.Q334*) - CUBN_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1003G>A r.(?) p.(Ala335Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003G>A r.(?) p.(Ala335Thr) Unknown - likely benign g.17152930C>T - CUBN(NM_001081.3):c.1003G>A (p.A335T) - CUBN_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 09 c.1010C>T r.(1010c>u) p.(Pro337Leu) Paternal (confirmed) - 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 - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1088A>G r.(?) p.(Asp363Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112-12A>G r.(=) p.(=) Unknown - likely benign g.17147586T>C - CUBN(NM_001081.3):c.1112-12A>G - CUBN_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164G>A r.(?) p.(Gly388=) Unknown - likely benign g.17147522C>T - CUBN(NM_001081.3):c.1164G>A (p.G388=) - CUBN_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1165C>A r.(?) p.(Pro389Thr) Unknown - benign g.17147521G>T g.17105522G>T CUBN(NM_001081.4):c.1165C>A (p.P389T) - CUBN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 11i c.1230+1G>A r.spl? p.? Unknown - likely pathogenic g.17147455C>T g.17105456C>T - - CUBN_000005 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236T>C r.(?) p.(Thr412=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1436C>G r.(1436c>g) p.(Ser479*) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1470G>A r.(?) p.(Pro490=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1470G>A r.(?) p.(Pro490=) Unknown - likely benign g.17145184C>T - CUBN(NM_001081.3):c.1470G>A (p.P490=) - CUBN_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1526del r.(?) p.(Gly509Glufs*13) Unknown - pathogenic g.17145130del g.17103131del p.Gly509fs - CUBN_000016 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1530G>A r.1418_1530del p.Val473Glyfs*26 Unknown - pathogenic g.17145124C>T g.17103125C>T - - CUBN_000017 1 German MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1537C>T r.(?) p.(Arg513Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1558C>T r.(?) p.(Arg520Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1606G>A r.(?) p.(Asp536Asn) Unknown - VUS g.17142163C>T - CUBN(NM_001081.3):c.1606G>A (p.D536N) - CUBN_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1681G>A r.(?) p.(Asp561Asn) Unknown - likely benign g.17142088C>T - CUBN(NM_001081.3):c.1681G>A (p.D561N) - CUBN_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1766-20A>G r.(=) p.(=) Unknown - likely benign g.17130364T>C - CUBN(NM_001081.3):c.1766-20A>G - CUBN_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1771G>A r.(?) p.(Gly591Arg) Unknown - VUS g.17130339C>T - CUBN(NM_001081.3):c.1771G>A (p.G591R) - CUBN_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1780C>G r.(?) p.(Leu594Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1811C>T r.(?) p.(Pro604Leu) Unknown - likely benign g.17130299G>A - CUBN(NM_001081.4):c.1811C>T (p.(Pro604Leu)) - CUBN_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1838del r.(?) p.(Gly613Glufs*9) Unknown - pathogenic g.17130273del g.17088274del p.Gly613fs - CUBN_000018 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1865del r.(?) p.(Thr622Ilefs*7) Unknown - pathogenic g.17130245del g.17088246del - - CUBN_000019 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.1951C>G r.(1951c>g) p.(Arg651Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 16 c.1951C>T r.(1951C>T) p.(Arg651*) Both (homozygous) - pathogenic g.17127755G>A g.17085756G>A - - CUBN_000006 1 Turkish MGA1 family (hom) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1952G>A r.(?) p.(Arg651Gln) Unknown - VUS g.17127754C>T - CUBN(NM_001081.3):c.1952G>A (p.(Arg651Gln)) - CUBN_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 16 c.2068A>G r.(2068a>g) p.(Ile690Val) Unknown - VUS g.17127638T>C g.17085639T>C - - CUBN_000021 1 Swedish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2076C>T r.(?) p.(Asp692=) Unknown - likely benign g.17127630G>A - CUBN(NM_001081.3):c.2076C>T (p.D692=) - CUBN_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2103A>G r.(?) p.(Thr701=) Unknown - likely benign g.17127603T>C - CUBN(NM_001081.3):c.2103A>G (p.T701=) - CUBN_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2182T>C r.(?) p.(Phe728Leu) Unknown - likely benign g.17126389A>G - CUBN(NM_001081.3):c.2182T>C (p.F728L) - CUBN_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2301+18A>G r.(=) p.(=) Unknown - likely benign g.17126252T>C - CUBN(NM_001081.3):c.2301+18A>G - CUBN_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2306G>A r.(?) p.(Arg769Gln) Unknown - likely benign g.17113966C>T - CUBN(NM_001081.3):c.2306G>A (p.(Arg769Gln)) - CUBN_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2445C>T r.(?) p.(Val815=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2445C>T r.(?) p.(Val815=) Unknown - likely benign g.17113827G>A - CUBN(NM_001081.3):c.2445C>T (p.V815=) - CUBN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2446+14_2446+15del r.(=) p.(=) Unknown - likely benign g.17113814_17113815del - CUBN(NM_001081.3):c.2446+14_2446+15delTA - CUBN_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2447-20T>G r.(=) p.(=) Unknown - likely benign g.17113623A>C - CUBN(NM_001081.3):c.2447-20T>G - CUBN_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2461T>G r.(?) p.(Leu821Val) Unknown - VUS g.17113589A>C - CUBN(NM_001081.3):c.2461T>G (p.L821V) - CUBN_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 19 c.2486C>T r.(2486c>u) p.(Ser829Leu) Unknown - likely pathogenic g.17113564G>A g.17071565G>A - - CUBN_000022 1 Dutch MGA1 patient (het) PubMed: Tanner et al. 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2487G>A r.(?) p.(Ser829=) Unknown - benign g.17113563C>T g.17071564C>T CUBN(NM_001081.4):c.2487G>A (p.S829=) - CUBN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2503G>A r.(?) p.(Val835Met) Unknown - VUS g.17113547C>T - CUBN(NM_001081.4):c.2503G>A (p.(Val835Met)) - CUBN_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 19 c.2515_2533del r.(?) p.(Glu839Profs*55) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
+?/+? 19 c.2594G>A r.(2594g>a) p.(Ser865Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2594G>A r.(?) p.(Ser865Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 19 c.2614_2615del r.(?) p.(Asp872Leufs*3) Both (homozygous) - pathogenic g.17113436_17113437del g.17071437_17071438del p.Asp872fs - CUBN_000025 2 Ashkenazi MGA1 patients (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2625G>T r.(?) p.(Glu875Asp) Unknown - VUS g.17113425C>A g.17071426C>A CUBN(NM_001081.4):c.2625G>T (p.E875D) - CUBN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2631T>C r.(?) p.(Gly877=) Unknown - likely benign g.17110764A>G - CUBN(NM_001081.3):c.2631T>C (p.G877=) - CUBN_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 20 c.2673C>A r.(2673c>a) p.(Cys891*) Unknown - pathogenic g.17110722G>T g.17068723G>T - - CUBN_000026 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2673C>T r.(?) p.(Cys891=) Unknown - likely benign g.17110722G>A - CUBN(NM_001081.3):c.2673C>T (p.C891=) - CUBN_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2738G>C r.(?) p.(Ser913Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2756A>G r.(?) p.(His919Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2791+9C>T r.(=) p.(=) Unknown - benign g.17110595G>A g.17068596G>A CUBN(NM_001081.4):c.2791+9C>T - CUBN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2791+9_2791+16del r.(=) p.(=) Unknown - likely benign g.17110588_17110595del - CUBN(NM_001081.3):c.2791+9_2791+16delCTGTTCCC - CUBN_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2792-6C>G r.(=) p.(=) Unknown - likely benign g.17110285G>C - CUBN(NM_001081.3):c.2792-6C>G - CUBN_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2840G>A r.(?) p.(Gly947Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 21 c.2949C>A r.(2949c>a) p.(Tyr983*) Both (homozygous) - pathogenic g.17110122G>T g.17068123G>T - - CUBN_000027 1 Spanish MGA1 patient (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2951A>G r.(?) p.(Asn984Ser) Unknown - likely benign g.17110120T>C - CUBN(NM_001081.3):c.2951A>G (p.N984S) - CUBN_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 22 c.3056C>G r.(3056c>g) p.(Ser1019*) Both (homozygous) - pathogenic g.17107590G>C g.17065591G>C - - CUBN_000028 1 Algerian MGA1 family (hom) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 22 c.3096del r.(?) p.(Tyr1032*) Unknown - pathogenic g.17107550del g.17065551del p.Thr1032* - CUBN_000029 1 Northern European MGA1 family (het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3140-7T>C r.(=) p.(=) Unknown - likely benign g.17089609A>G - CUBN(NM_001081.3):c.3140-7T>C - CUBN_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3211A>G r.(?) p.(Asn1071Asp) Unknown - VUS g.17089531T>C g.17047532T>C CUBN(NM_001081.4):c.3211A>G (p.N1071D) - CUBN_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3282C>T r.(?) p.(Ser1094=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3292G>T r.(?) p.(Ala1098Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3292G>T r.(?) p.(Ala1098Ser) Unknown - benign g.17089450C>A - CUBN(NM_001081.3):c.3292G>T (p.A1098S) - CUBN_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 23i c.3330-439C>G r.[3329_3330ins66, 3329_3330ins125] p.0 Both (homozygous) - 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 - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3354A>G r.(?) p.(Pro1118=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3356T>A r.(?) p.(Leu1119Ter) Unknown - pathogenic g.17088067A>T - CUBN(NM_001081.3):c.3356T>A (p.L1119*) - CUBN_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3356T>C r.(?) p.(Leu1119Ser) Unknown - likely benign g.17088067A>G - CUBN(NM_001081.3):c.3356T>C (p.L1119S) - CUBN_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3356T>C r.(?) p.(Leu1119Ser) Unknown - likely benign g.17088067A>G - CUBN(NM_001081.3):c.3356T>C (p.L1119S) - CUBN_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3374G>T r.(?) p.(Gly1125Val) Unknown - VUS g.17088049C>A g.17046050C>A CUBN(NM_001081.3):c.3374G>T (p.G1125V) - CUBN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3374G>T r.(?) p.(Gly1125Val) Unknown - likely pathogenic g.17088049C>A - CUBN(NM_001081.3):c.3374G>T (p.G1125V) - CUBN_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3388C>T r.(?) p.(Pro1130Ser) Unknown - likely benign g.17088035G>A - CUBN(NM_001081.4):c.3388C>T (p.(Pro1130Ser)) - CUBN_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3495C>T r.(?) p.(Cys1165=) Unknown - likely benign g.17087183G>A - CUBN(NM_001081.3):c.3495C>T (p.C1165=) - CUBN_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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Genomic reference sequence: hg19 (GRCh37)


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