Full data view for gene ROBO2

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

60 entries on 1 page. Showing entries 1 - 60.
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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     
-/. - c.-13-10C>G r.(=) p.(=) Unknown - benign g.75986622C>G g.75937471C>G ROBO2(NM_001128929.3):c.-13-10C>G - ROBO2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.436+73151_436+73152::? r.-280_436::NM_032971.2:r.[33_*1237,-271_*1237] p.? Unknown - pathogenic g.pter_77220642delins[NC_000024.9:pter_4892525] - ROBO2-PCDH11Y fusion 46,XY,t(Y;3)(p11;p12)dn ROBO2_000006 breakpoint in BAC RP11-54A6; fusion transcripts expressed at somewhat reduced levels compared to non-translocated chromosome PubMed: Lu 2007, Journal: Lu 2007 - - De novo - - - - - DNA, RNA FISH, PCR, RT-PCR, SEQ - - VUR2 - PubMed: Lu 2007, Journal: Lu 2007 - M - - - >18y - - - 1 Johan den Dunnen
-/. - c.19C>A r.(?) p.(Arg7Ser) Unknown - benign g.75986663C>A g.75937512C>A ROBO2(NM_001128929.3):c.19C>A (p.R7S) - ROBO2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.19C>A r.(?) p.(Arg7Ser) Unknown - benign g.75986663C>A g.75937512C>A ROBO2(NM_001128929.3):c.19C>A (p.R7S) - ROBO2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42A>G r.(?) p.(Thr14=) Unknown - benign g.75986686A>G g.75937535A>G ROBO2(NM_001128929.3):c.42A>G (p.T14=) - ROBO2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.73G>A r.(?) p.(Val25Met) Unknown - benign g.75986717G>A g.75937566G>A ROBO2(NM_001128929.3):c.73G>A (p.V25M) - ROBO2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.73G>A r.(?) p.(Val25Met) Unknown - benign g.75986717G>A g.75937566G>A ROBO2(NM_001128929.3):c.73G>A (p.V25M) - ROBO2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75G>C r.(?) p.(Val25=) Unknown - benign g.75986719G>C g.75937568G>C ROBO2(NM_001128929.3):c.75G>C (p.V25=) - ROBO2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97G>T r.(?) p.(Gly33Ter) Unknown - benign g.75986741G>T g.75937590G>T ROBO2(NM_001128929.3):c.97G>T (p.G33*) - ROBO2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110-453619C>T r.(=) p.(=) Both (homozygous) - VUS g.76693546C>T g.76644395C>T - - ROBO2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.110-57176G>A r.(=) p.(=) Unknown - VUS g.77089989G>A - ROBO2(NM_001290039.2):c.53G>A (p.(Arg18Gln)) - ROBO2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.437-105243G>C r.(=) p.(=) Unknown - VUS g.77421322G>C g.77372171G>C - - ROBO2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.437-3C>T r.spl? p.? Unknown - likely benign g.77526562C>T g.77477411C>T ROBO2(NM_001290040.1):c.389-3C>T - ROBO2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.454C>T r.(?) p.(Arg152Ter) Unknown - likely pathogenic g.77526582C>T - - - ROBO2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.595-3C>T r.spl? p.? Unknown - benign g.77530247C>T g.77481096C>T ROBO2(NM_001378191.1):c.595-3C>T, ROBO2(NM_002942.5):c.547-3C>T - ROBO2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.595-3C>T r.spl? p.? Unknown - benign g.77530247C>T - ROBO2(NM_001378191.1):c.595-3C>T, ROBO2(NM_002942.5):c.547-3C>T - ROBO2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687C>G r.(?) p.(Asp229Glu) Unknown - likely benign g.77530342C>G - ROBO2(NM_001290040.2):c.639C>G (p.D213E) - ROBO2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.716-6T>C r.(=) p.(=) Unknown - benign g.77542389T>C g.77493238T>C ROBO2(NM_002942.5):c.668-6T>C - ROBO2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.716-5del r.spl? p.? Unknown - benign g.77542390del g.77493239del ROBO2(NM_002942.5):c.668-5delT - ROBO2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.716-5dup r.spl? p.? Unknown - likely benign g.77542390dup - ROBO2(NM_002942.5):c.668-5dupT - ROBO2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.870C>T r.(?) p.(Asp290=) Unknown - VUS g.77571941C>T g.77522790C>T ROBO2(NM_001128929.3):c.870C>T (p.D290=), ROBO2(NM_002942.5):c.822C>T (p.D274=) - ROBO2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>T r.(?) p.(Asp290=) Unknown - likely benign g.77571941C>T - ROBO2(NM_001128929.3):c.870C>T (p.D290=), ROBO2(NM_002942.5):c.822C>T (p.D274=) - ROBO2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.978C>T r.(?) p.(Val326=) Unknown - likely benign g.77572049C>T - ROBO2(NM_002942.5):c.930C>T (p.V310=) - ROBO2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1038A>G r.(?) p.(Thr346=) Unknown - benign g.77595544A>G - ROBO2(NM_001290040.2):c.1002A>G (p.T334=) - ROBO2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108-10G>A r.(=) p.(=) Unknown - likely benign g.77599959G>A - ROBO2(NM_002942.5):c.1060-10G>A - ROBO2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1319G>C r.(?) p.(Gly440Ala) Unknown - VUS g.52921759C>G g.55254528C>G - - TCF4_000168 - PubMed: Imafidon 2021 - - De novo - - - - - DNA arraySNP, SEQ-NG - gene panel ? Pat617 PubMed: Imafidon 2021 prenatal indication abnormal ultrasound M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.1332G>T r.(?) p.(Thr444=) Unknown - likely benign g.77607147G>T - ROBO2(NM_002942.5):c.1284G>T (p.T428=) - ROBO2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1416T>C r.(?) p.(Phe472=) Unknown - likely benign g.77607231T>C - ROBO2(NM_002942.5):c.1368T>C (p.F456=) - ROBO2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1528A>G r.(?) p.(Ser510Gly) Unknown - likely benign g.77611844A>G - ROBO2(NM_001290040.1):c.1492A>G (p.S498G) - ROBO2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1592A>T r.(?) p.(Asn531Ile) Unknown - likely benign g.77612342A>T - ROBO2(NM_002942.5):c.1544A>T (p.N515I) - ROBO2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1673G>A r.(?) p.(Trp558Ter) Unknown - VUS g.77612423G>A g.77563272G>A - - ROBO2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1787A>G r.(?) p.(Tyr596Cys) Unknown - likely benign g.77614161A>G - ROBO2(NM_002942.5):c.1739A>G (p.Y580C) - ROBO2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 13 c.1841T>C r.(?) p.(Ile614Thr) Unknown - likely benign g.77614215T>C g.77565064T>C 2436T>C (I598T) - ROBO2_000005 - PubMed: Lu 2007, Journal: Lu 2007 - - Unknown ? 3/552 control chromosomes - - - DNA SEQ - - - - PubMed: Lu 2007, Journal: Lu 2007 276 controls and 124 CAKUT/VUR probands - - - - - - - - 3 Johan den Dunnen
-?/. - c.1862A>G r.(?) p.(Asp621Gly) Unknown - likely benign g.77614236A>G - ROBO2(NM_002942.5):c.1814A>G (p.D605G) - ROBO2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1897+8C>G r.(=) p.(=) Unknown - likely benign g.77614279C>G - ROBO2(NM_002942.5):c.1849+8C>G - ROBO2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1951G>A r.(?) p.(Gly651Arg) Unknown - VUS g.77617517G>A - ROBO2(NM_002942.5):c.1903G>A (p.G635R) - ROBO2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1992T>C r.(?) p.(Thr664=) Unknown - likely benign g.77617558T>C g.77568407T>C ROBO2(NM_001290040.1):c.1956T>C (p.T652=), ROBO2(NM_002942.5):c.1944T>C (p.T648=) - ROBO2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1992T>C r.(?) p.(Thr664=) Unknown - likely benign g.77617558T>C - ROBO2(NM_001290040.1):c.1956T>C (p.T652=), ROBO2(NM_002942.5):c.1944T>C (p.T648=) - ROBO2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2122C>T r.(?) p.(Pro708Ser) Unknown - likely benign g.77623752C>T - ROBO2(NM_001290040.2):c.2086C>T (p.P696S) - ROBO2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2442C>T r.(?) p.(Ser814=) Unknown - likely benign g.77629163C>T - ROBO2(NM_002942.5):c.2394C>T (p.S798=) - ROBO2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2479C>T r.(?) p.(Arg827Trp) Parent #1 - VUS g.77629200C>T g.77580049C>T - - ROBO2_000022 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs188582283 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.2480G>A r.(?) p.(Arg827Gln) Unknown - VUS g.77629201G>A - ROBO2(NM_001290040.1):c.2444G>A (p.R815Q) - ROBO2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2775-16G>C r.(=) p.(=) Unknown - likely benign g.77645758G>C - ROBO2(NM_002942.5):c.2727-16G>C - ROBO2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.2882T>C r.(?) p.(Ile961Thr) Maternal (confirmed) - pathogenic g.77645881T>C g.77596730T>C 3477T>C (I945T) - ROBO2_000003 not in 552 control chromosomes PubMed: Lu 2007, Journal: Lu 2007, OMIM:var0001 - rs267607014 Germline yes 1/124 families - - - DNA SEQ - - VUR2 - PubMed: Lu 2007, Journal: Lu 2007 2-generation family, affected mother/daugther F yes United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
-?/. - c.3216A>G r.(?) p.(Lys1072=) Unknown - likely benign g.77656980A>G - ROBO2(NM_002942.5):c.3168A>G (p.K1056=) - ROBO2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3284T>A r.(?) p.(Val1095Asp) Unknown - VUS g.77657048T>A - ROBO2(NM_002942.4):c.3236T>A (p.(Val1079Asp)) - ROBO2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3295C>T r.(?) p.(Pro1099Ser) Unknown - likely benign g.77657059C>T - ROBO2(NM_002942.5):c.3247C>T (p.P1083S) - ROBO2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3302C>T r.(?) p.(Thr1101Met) Unknown - VUS g.77657066C>T g.77607915C>T ROBO2(NM_001290040.2):c.3266C>T (p.T1089M) - ROBO2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3302C>T r.(?) p.(Thr1101Met) Unknown - VUS g.77657066C>T g.77607915C>T c.3266C>T (Thr1089Met) - ROBO2_000021 - PubMed: Imafidon 2021 - - De novo - - - - - DNA arraySNP, SEQ-NG - gene panel ? Pat617 PubMed: Imafidon 2021 prenatal indication abnormal ultrasound M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.3402G>A r.(?) p.(=) Unknown - likely benign g.77666724G>A - ROBO2(NM_002942.5):c.3354G>A (p.L1118=) - ROBO2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3456C>T r.(?) p.(Gly1152=) Unknown - likely benign g.77666778C>T - ROBO2(NM_002942.5):c.3408C>T (p.G1136=) - ROBO2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3694G>A r.(?) p.(Val1232Ile) Unknown - likely benign g.77671469G>A - ROBO2(NM_001290040.1):c.3658G>A (p.V1220I) - ROBO2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 24 c.3754G>A r.(?) p.(Ala1252Thr) Maternal (confirmed) - pathogenic g.77671529G>A g.77622378G>A 4349G>A (A1236T) - ROBO2_000004 not in 552 control chromosomes PubMed: Lu 2007, Journal: Lu 2007, OMIM:var0002 - rs267607015 Germline yes 1/124 families - - - DNA SEQ - - VUR2 - PubMed: Lu 2007, Journal: Lu 2007 3-generation family, 5 affecteds (duagther, mother, 2 aunts, grandmother) F no Netherlands - - - - - 5 Johan den Dunnen
+/. - c.3754G>A r.(?) p.(Ala1252Thr) Unknown - pathogenic g.77671529G>A - ROBO2(NM_002942.5):c.3706G>A (p.A1236T) - ROBO2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3808+3A>G r.spl? p.? Unknown - likely benign g.77671586A>G - ROBO2(NM_001378191.1):c.3946+3A>G - ROBO2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3809-2355C>T r.(=) p.(=) Unknown - VUS g.77681666C>T - ROBO2(NM_001290040.1):c.3814C>T (p.R1272C) - ROBO2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3809-2235G>A r.(=) p.(=) Unknown - VUS g.77681786G>A - ROBO2(NM_001290040.1):c.3934G>A (p.G1312R) - ROBO2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4086C>T r.(?) p.(=) Unknown - likely benign g.77693958C>T - ROBO2(NM_002942.5):c.4038C>T (p.T1346=) - ROBO2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4104C>T r.(?) p.(Gly1368=) Unknown - likely benign g.77693976C>T - ROBO2(NM_001290040.1):c.4251C>T (p.G1417=), ROBO2(NM_002942.5):c.4056C>T (p.G1352=) - ROBO2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4104C>T r.(?) p.(Gly1368=) Unknown - likely benign g.77693976C>T - ROBO2(NM_001290040.1):c.4251C>T (p.G1417=), ROBO2(NM_002942.5):c.4056C>T (p.G1352=) - ROBO2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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