Full data view for gene ROR2

Information The variants shown are described using the NM_004560.3 transcript reference sequence.

209 entries on 3 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     
+/. _1_9_ c.-199_*1066{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.94371974_94844329del - - - ROR2_000093 470 Kb deletion PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA arrayCGH, MLPA, PCR, SEQ - - RRS PatA11 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Brazil - - - - - 1 Johan den Dunnen
+?/. - c.2T>G r.(?) p.(Met1?) Both (homozygous) ACMG likely pathogenic (recessive) g.94712244A>C g.91949962A>C - - ROR2_000112 ACMG PVS1, PM2, , PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA13 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.47C>G r.(?) p.(Pro16Arg) Unknown - likely benign g.94712199G>C - ROR2(NM_004560.4):c.47C>G (p.(Pro16Arg)) - ROR2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75G>A r.(?) p.(=) Unknown - benign g.94712171C>T - ROR2(NM_004560.4):c.75G>A (p.(Leu25=), p.L25=) - ROR2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75G>A r.(?) p.(=) Unknown - benign g.94712171C>T - ROR2(NM_004560.4):c.75G>A (p.(Leu25=), p.L25=) - ROR2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79_80del r.(?) p.(Ser29ProfsTer5) Both (homozygous) ACMG pathogenic (recessive) g.94712169_94712170del g.91949887_91949888del c.79_80delTC - ROR2_000111 ACMG PVS1, PM2, PP4 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA14 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Chile - - - - - 1 Johan den Dunnen
-?/. - c.98-75584A>G r.(=) p.(=) Unknown - likely benign g.94613684T>C - ROR2(NM_004560.4):c.98-75584A>G - ROR2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.98-15G>C r.(=) p.(=) Unknown - benign g.94538115C>G g.91775833C>G ROR2(NM_004560.4):c.98-15G>C - ROR2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175+8419G>T r.(=) p.(=) Unknown - likely benign g.94529604C>A - ROR2(NM_004560.4):c.175+8419G>T - ROR2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206A>G r.(?) p.(Asn69Ser) Unknown - VUS g.94519811T>C - ROR2(NM_004560.3):c.206A>G (p.(Asn69Ser)) - ROR2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.227G>A r.(?) p.(Gly76Asp) Both (homozygous) - pathogenic (recessive) g.94519790C>T - - - ROR2_000090 - PubMed: Tamhankar 2014 - - Germline yes - - - - DNA SEQ - - ? Pat2 PubMed: Tamhankar 2014 2-generation family, 2 affected sibs, unaffected parents M - India - - - - - 2 Johan den Dunnen
?/. - c.272C>T r.(?) p.(Pro91Leu) Unknown - VUS g.94519745G>A g.91757463G>A ROR2(NM_004560.4):c.272C>T (p.P91L) - ROR2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.315G>T r.(?) p.(Glu105Asp) Unknown - VUS g.94519702C>A - ROR2(NM_004560.4):c.315G>T (p.(Glu105Asp), p.E105D) - ROR2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.315G>T r.(?) p.(Glu105Asp) Unknown - VUS g.94519702C>A - ROR2(NM_004560.4):c.315G>T (p.(Glu105Asp), p.E105D) - ROR2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.323G>A r.(?) p.(Arg108Gln) Both (homozygous) ACMG likely pathogenic (recessive) g.94519694C>T g.91757412C>T - - ROR2_000110 ACMG PM2, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS FamA1PatII3 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes Brazil - - - - - 3 Johan den Dunnen
+?/. - c.323G>A r.(?) p.(Arg108Gln) Both (homozygous) ACMG likely pathogenic (recessive) g.94519694C>T g.91757412C>T - - ROR2_000110 ACMG PM2, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS FamA2PatII4 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Brazil - - - - - 2 Johan den Dunnen
+?/. - c.323G>A r.(?) p.(Arg108Gln) Both (homozygous) ACMG likely pathogenic (recessive) g.94519694C>T g.91757412C>T - - ROR2_000110 ACMG PP3, PP4, PS2 PubMed: Rai 2021 - - Germline - - - - - DNA SEQ - WGS RRS Pat2 PubMed: Rai 2021 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - India - - - - - 1 Johan den Dunnen
?/. - c.334C>T r.(?) p.(Arg112Trp) Unknown - VUS g.94519683G>A - ROR2(NM_004560.4):c.334C>T (p.R112W) - ROR2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.355C>T r.(?) p.(Arg119Ter) Unknown - pathogenic g.94519662G>A g.91757380G>A - - ROR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.355C>T r.(?) p.(Arg119*) Maternal (confirmed) - pathogenic (recessive) g.94519662G>A - - - ROR2_000006 - PubMed: Tufan 2005 - - Germline - - +FatI - - DNA SEQ - - RRS - PubMed: Tufan 2005 1 family, 1 patient - - Germany - - - - - 1 Jacopo Celli
+/. - c.355C>T r.(?) p.(Arg119Ter) Both (homozygous) ACMG pathogenic (recessive) g.94519662G>A g.91757380G>A - - ROR2_000006 ACMG PVS1, PM2, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS FamA3PatIV2 PubMed: Lima 2022, Journal: Lima 2022 4-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 5 Johan den Dunnen
-?/. - c.372C>T r.(?) p.(Asp124=) Unknown - likely benign g.94519645G>A - ROR2(NM_004560.3):c.372C>T (p.D124=), ROR2(NM_004560.4):c.372C>T (p.D124=) - ROR2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.372C>T r.(?) p.(Asp124=) Unknown - likely benign g.94519645G>A - ROR2(NM_004560.3):c.372C>T (p.D124=), ROR2(NM_004560.4):c.372C>T (p.D124=) - ROR2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.380C>T r.(?) p.(Thr127Met) Unknown - likely benign g.94519637G>A g.91757355G>A ROR2(NM_004560.3):c.380C>T (p.(Thr127Met)) - ROR2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.417C>G r.(?) p.(Asn139Lys) Unknown - VUS g.94519600G>C g.91757318G>C NM_004560.4:c.417G>C - ROR2_000148 - PubMed: Mansoorshahi 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CHD BAV986 PubMed: Mansoorshahi 2024 analysis 215 early-onset complications bicuspid aortic valve-affected families. - - United States - - - - - 1 Johan den Dunnen
-?/. - c.463+11C>A r.(=) p.(=) Unknown - likely benign g.94519543G>T - ROR2(NM_004560.4):c.463+11C>A - ROR2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i_5i c.463+231_622+1481del r.? p.? Both (homozygous) - VUS g.94498192_94519323del - del ex4-5 - ROR2_000072 - PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA MLPA, PCR, SEQ - - ? FamA4Pat PubMed: Lima 2022, Journal: Lima 2022 5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 2 Juliana Mazzeu
?/. - c.494+4_494+8del r.spl? p.? Both (homozygous) ACMG VUS g.94518345_94518349del g.91756063_91756067del - - ROR2_000109 ACMG PM2, PP3, PP4 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA12 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Romania - - - - - 1 Johan den Dunnen
-/. 4i c.494+25G>A r.(?) p.(=) Unknown - benign g.94518328C>T - IVS4+23G>A - ROR2_000089 - PubMed: Mehawej 2012 - rs12683181 Germline - - - - - DNA SEQ - - RRS family PubMed: Mehawej 2012 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Lebanon - - - - - 2 Johan den Dunnen
+/. - c.496G>C r.(?) p.(Asp166His) Both (homozygous) - pathogenic (recessive) g.94499799C>G g.91737517C>G - 46,XY ROR2_000108 - PubMed: Aglan 2015 - - Germline - - - - - DNA SEQ - - RRS Fam3Pat3 PubMed: Aglan 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - 2 Johan den Dunnen
+/. - c.496G>C r.(?) p.(Asp166His) Both (homozygous) - pathogenic (recessive) g.94499799C>G g.91737517C>G - 46,XY ROR2_000108 - PubMed: Aglan 2015 - - Germline - - - - - DNA SEQ - - RRS Fam3Pat4 PubMed: Aglan 2015 sister F yes Egypt Egypt-U - - - - 1 Johan den Dunnen
-/. - c.498T>C r.(?) p.(Asp166=) Unknown - benign g.94499797A>G g.91737515A>G - - ROR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 5 c.498T>C r.(?) p.(=) Unknown - benign g.94499797A>G - - - ROR2_000024 Found in heterozygous or homozygous state PubMed: Schwabe 2000 - - Germline - - +BsmFI; -FokI - - DNA SEQ - - Healthy/Control - PubMed: Schwabe 2000 1 family, 1 patient - - - - - - - - 1 Jacopo Celli
-?/. - c.525G>A r.(?) p.(Gln175=) Unknown - likely benign g.94499770C>T g.91737488C>T ROR2(NM_004560.3):c.525G>A (p.Q175=) - ROR2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 5 c.545G>A r.(?) p.(Cys182Tyr) Both (homozygous) - pathogenic (recessive) g.94499750C>T - Cys182X - ROR2_000001 - PubMed: van Bokhoven 2000 - - Germline - - -ApaLI - - DNA SEQ - - RRS - PubMed: van Bokhoven 2000 1 family, 1 patient - - Turkey - - - - - 1 Jacopo Celli
+/. - c.545G>A r.(?) p.(Cys182Tyr) Both (homozygous) - pathogenic (recessive) g.94499750C>T - - - ROR2_000001 - PubMed: Tamhankar 2014 - - Germline - - - - - DNA SEQ - - ACH Pat1 PubMed: Tamhankar 2014 2-generation family, 1 affected, unaffected parents M no India - - - - - 1 Johan den Dunnen
+/+? 5 c.550C>T r.(?) p.(Arg184Cys) Paternal (confirmed) - pathogenic (recessive) g.94499745G>A - - - ROR2_000007 - PubMed: Tufan 2005 - - Germline - - -Alw44I - - DNA SEQ - - RRS - PubMed: Tufan 2005 1 family, 1 patient - - Germany - - - - - 1 Jacopo Celli
+/+? 5 c.550C>T r.(?) p.(Arg184Cys) Both (homozygous) - pathogenic (recessive) g.94499745G>A - - - ROR2_000007 - PubMed: Afzal 2000 - - Germline - - -Alw44I - - DNA RFLP, SEQ, SSCA - - RRS - PubMed: Afzal 2000 1 family, 3 patients - - Brazil - - - - - 3 Jacopo Celli
+/+? 5 c.565C>T r.(?) p.(Arg189Trp) Both (homozygous) - pathogenic (recessive) g.94499730G>A - - - ROR2_000008 - PubMed: Afzal 2000 - - Germline - - -BsaWI; +BsrI - - DNA RFLP, SEQ, SSCA - - RRS - PubMed: Afzal 2000 1 family, 1 patient - - Pakistan - - - - - 1 Jacopo Celli
?/. - c.568A>G r.(?) p.(Thr190Ala) Unknown - VUS g.94499727T>C - ROR2(NM_004560.3):c.568A>G (p.(Thr190Ala)) - ROR2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.574T>G r.(?) p.(Tyr192Asp) Both (homozygous) - pathogenic (recessive) g.94499721A>C - - - ROR2_000029 variant tested in mouse model PubMed: Ali 2007 - - Germline - - - - - DNA SEQ - - RRS patient PubMed: Ali 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - 1 Jacopo Celli
+/. - c.574T>G r.(?) p.(Tyr192Asp) Both (homozygous) - pathogenic (recessive) g.94499721A>C g.91737439A>C - 46,XY ROR2_000029 - PubMed: Aglan 2015 - - Germline - - - - - DNA SEQ - - RRS Fam1Pat1 PubMed: Aglan 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - 1 Johan den Dunnen
+/. - c.574T>G r.(?) p.(Tyr192Asp) Both (homozygous) - pathogenic (recessive) g.94499721A>C g.91737439A>C - 46,XY ROR2_000029 - PubMed: Aglan 2015 - - Germline - - - - - DNA SEQ - - RRS Fam4Pat5 PubMed: Aglan 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-U - - - - 1 Johan den Dunnen
+/. - c.574T>G r.(?) p.(Tyr192Asp) Both (homozygous) - pathogenic (recessive) g.94499721A>C g.91737439A>C - 46,XY ROR2_000029 - PubMed: Aglan 2015 - - Germline - - - - - DNA SEQ - - RRS Fam5Pat6 PubMed: Aglan 2015 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Egypt Egypt-L - - - - 2 Johan den Dunnen
+/. - c.574T>G r.(?) p.(Tyr192Asp) Both (homozygous) - pathogenic (recessive) g.94499721A>C g.91737439A>C - 46,XY ROR2_000029 - PubMed: Aglan 2015 - - Germline - - - - - DNA SEQ - - RRS Fam5Pat7 PubMed: Aglan 2015 brother M yes Egypt Egypt-L - - - - 1 Johan den Dunnen
?/. - c.594G>A r.(?) p.(Met198Ile) Unknown - VUS g.94499701C>T - ROR2(NM_004560.3):c.594G>A (p.(Met198Ile)) - ROR2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 5 c.613C>T r.(?) p.(Arg205*) Both (homozygous) - pathogenic (recessive) g.94499682G>A - - - ROR2_000002 - PubMed: van Bokhoven 2000 - - Germline - - - - - DNA SEQ - - RRS - PubMed: van Bokhoven 2000 3 patients from 3 families - - Turkey - - - - - 3 Jacopo Celli
+/. - c.613C>T r.(?) p.(Arg205Ter) Parent #1 ACMG pathogenic (recessive) g.94499682G>A g.91737400G>A - - ROR2_000002 ACMG PVS1, PM2, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA5 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey;United States - - - - - 1 Johan den Dunnen
+/. - c.613C>T r.(?) p.(Arg205*) Paternal (confirmed) - pathogenic (recessive) g.94499682G>A - - - ROR2_000002 - PubMed: Yang 2020 - - Germline - - - - - DNA arrayCGH, microscope, SEQ, SEQ-NG - - RRS family PubMed: Yang 2020 2-generation family, 3 affected (2 fetuses), unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
+/+? 5i c.622+761_1184-1035del r.? p.(Ala208_Ser395delinsGly) Both (homozygous) - pathogenic (recessive) g.94490060_94498912del - - - ROR2_000028 - PubMed: Brunetti-Pierri 2008 - - Germline - - -AvaI - - DNA SEQ, PCRq - - RRS - PubMed: Brunetti-Pierri 2008 1 family, 4 patients - - - - - - - - 4 Jacopo Celli
+/. 5i_7i c.622+762_1184-1036del r.(?) p.(Ala208_Ser395delinsGly) Both (homozygous) - pathogenic (recessive) g.94490061_94498911del g.91727779_91736629del del ex6-7, g.94490060_94498912del - ROR2_000092 - PubMed: Brunetti-Pierri 2008 - - Germline yes - - - - DNA PCR, PCRq, SEQ - - RRS family PubMed: Brunetti-Pierri 2008 3-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents F;M - United States - - - - - 5 Johan den Dunnen
?/. - c.623-11G>A r.spl? p.? Both (homozygous) ACMG VUS g.94495729C>T g.91733447C>T - - ROR2_000107 ACMG PM2, PP4, PP5, BP7 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ-NG - - RRS PatA17 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes India - - - - - 2 Johan den Dunnen
?/. - c.623-11G>A r.spl? p.? Both (homozygous) ACMG VUS g.94495729C>T g.91733447C>T - - ROR2_000107 ACMG PM2, PP4, PP5, BP7 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA18 PubMed: Lima 2022, Journal: Lima 2022 sister F yes India - - - - - 1 Johan den Dunnen
+/. - c.668G>A r.(?) p.(Cys223Tyr) Both (homozygous) - pathogenic (recessive) g.94495673C>T - - - ROR2_000091 - PubMed: Tamhankar 2014 - - Germline - - - - - DNA SEQ - - ? Pat3 PubMed: Tamhankar 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - 1 Johan den Dunnen
+/. - c.675del r.(?) p.(Gln225HisfsTer220) Both (homozygous) ACMG pathogenic (recessive) g.94495666del g.91733384del c.675delG - ROR2_000106 ACMG PVS1, PM2, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA8 PubMed: Lima 2022, Journal: Lima 2022 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Brazil - - - - - 1 Johan den Dunnen
+/. - c.717C>A r.(?) p.(Cys239Ter) Both (homozygous) ACMG pathogenic (recessive) g.94495624G>T g.91733342G>T - - ROR2_000105 ACMG PVS1, PM2, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA7 PubMed: Lima 2022, Journal: Lima 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Brazil - - - - - 1 Johan den Dunnen
-/. - c.717C>T r.(?) p.(=) Unknown - benign g.94495624G>A - ROR2(NM_004560.4):c.717C>T (p.(Cys239=), p.C239=) - ROR2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.717C>T r.(?) p.(=) Unknown - benign g.94495624G>A - ROR2(NM_004560.4):c.717C>T (p.(Cys239=), p.C239=) - ROR2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.730C>T r.(?) p.(Arg244Trp) Both (homozygous) - pathogenic (recessive) g.94495611G>A - - - ROR2_000030 father not available; variant tested in mouse model PubMed: Ali 2007 - - Germline - - +BstNI; -HpaII - - DNA SEQ - - RRS patient PubMed: Ali 2007 2-generation family, 1 affected, unaffected heterozygous carrier mother F - United Kingdom (Great Britain) - - - - - 1 Jacopo Celli
-?/. - c.730C>T r.(?) p.(Arg244Trp) Unknown - likely benign g.94495611G>A - ROR2(NM_001318204.1):c.730C>T (p.(Arg244Trp)), ROR2(NM_004560.4):c.730C>T (p.R244W) - ROR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.730C>T r.(?) p.(Arg244Trp) Unknown - VUS g.94495611G>A - ROR2(NM_001318204.1):c.730C>T (p.(Arg244Trp)), ROR2(NM_004560.4):c.730C>T (p.R244W) - ROR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.730C>T r.(?) p.(Arg244Trp) Unknown - likely benign g.94495611G>A - ROR2(NM_001318204.1):c.730C>T (p.(Arg244Trp)), ROR2(NM_004560.4):c.730C>T (p.R244W) - ROR2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.733A>G r.(?) p.(Thr245Ala) Unknown - benign g.94495608T>C g.91733326T>C ROR2(NM_004560.4):c.733A>G (p.T245A) - ROR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.733A>G r.(?) p.(Thr245Ala) Unknown - benign g.94495608T>C g.91733326T>C ROR2(NM_004560.4):c.733A>G (p.T245A) - ROR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6 c.733A>G r.(?) p.(Thr245Ala) Unknown - benign g.94495608T>C - 733G>A - ROR2_000023 Found in heterozygous or homozygous state + Mouse model as duoble mutant with R244W PubMed: Schwabe 2000 - - Germline - - +SmaI - - DNA SEQ - - Healthy/Control - PubMed: Schwabe 2000 1 family, 1 patient - - - - - - - - 1 Jacopo Celli
-/- 6 c.733A>G r.(?) p.(Thr245Ala) Both (homozygous) - benign g.94495608T>C - 733G>A - ROR2_000023 - PubMed: Ali 2007 - - Germline - - SmaI+ - - DNA SEQ - - RRS patient PubMed: Ali 2007 2-generation family, 1 affected, unaffected heterozygous carrier mother F - United Kingdom (Great Britain) - - - - - 1 Jacopo Celli
-?/. - c.762C>T r.(?) p.(Asp254=) Both (homozygous) - likely benign g.94495579G>A - - - ROR2_000088 - PubMed: Mehawej 2012 - - Germline - - - - - DNA SEQ - - RRS family PubMed: Mehawej 2012 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Lebanon - - - - - 2 Johan den Dunnen
?/+? - c.763G>A r.(?) p.(Glu255Lys) Both (homozygous) - VUS g.94495578C>T g.91733296C>T - - ROR2_000119 - - - - Germline - - - - - DNA ? - - RRS1 patient PubMed: Demirkan 2022, Journal: Demirkan 2022 - M yes Turkey - - - - - 1 Juliana Mazzeu
+/. - c.768_784dup r.(?) p.(Asp262Alafs*189) Both (homozygous) - pathogenic (recessive) g.94495558_94495574dup g.91733276_91733292dup c.784_785insCGAGGTGCTGGAGAGCG - ROR2_000085 - PubMed: Kirat 2020 - - Germline yes - - - - DNA SEQ - - RRS FamPat2 PubMed: Kirat 2020 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.768_784dup r.(?) p.(Asp262Alafs*189) Both (homozygous) - pathogenic (recessive) g.94495558_94495574dup g.91733276_91733292dup c.784_785insCGAGGTGCTGGAGAGCG - ROR2_000085 - PubMed: Kirat 2020 - - Germline yes - - - - DNA SEQ - - RRS FamPat3 PubMed: Kirat 2020 brother M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.794G>A r.(?) p.(Arg265His) Unknown - VUS g.94495547C>T - ROR2(NM_004560.4):c.794G>A (p.R265H) - ROR2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808A>G r.(?) p.(Ile270Val) Unknown - VUS g.94495533T>C - ROR2(NM_004560.4):c.808A>G (p.I270V) - ROR2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811G>A r.(?) p.(Ala271Thr) Unknown - VUS g.94495530C>T - ROR2(NM_004560.4):c.811G>A (p.(Ala271Thr)) - ROR2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.814C>T r.(?) p.(Arg272Cys) Both (homozygous) - pathogenic (recessive) g.94495527G>A - - - ROR2_000086 - PubMed: Mehawej 2012 - - Germline yes - - - - DNA SEQ - - RRS family PubMed: Mehawej 2012 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Lebanon - - - - - 2 Johan den Dunnen
?/. - c.886G>T r.(?) p.(Asp296Tyr) Unknown - VUS g.94495455C>A - ROR2(NM_004560.4):c.886G>T (p.D296Y) - ROR2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.899G>T r.(?) p.(Cys300Phe) Maternal (confirmed) ACMG likely pathogenic (recessive) g.94495442C>A - - - ROR2_000081 ACMG PM2, PM3, PP3, PP4, PP5 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS BAB9136;PatA6 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - 1 Johan den Dunnen
?/. - c.904C>T r.(?) p.(Arg302Cys) Paternal (confirmed) ACMG VUS g.94495437G>A g.91733155G>A - - ROR2_000083 ACMG PM2, PP4 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS BAB14232;PatA21 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.904C>T r.(?) p.(Arg302Cys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.94495437G>A - - - ROR2_000083 ACMG PM2, PM3, PP2, PP3, PP4 PubMed: Yang 2020 - - Germline - - - - - DNA arrayCGH, microscope, SEQ, SEQ-NG - - RRS family PubMed: Yang 2020 2-generation family, 3 affected (2 fetuses), unaffected heterozygous carrier parents - - China - - - - - 1 Johan den Dunnen
-?/. - c.935G>A r.(?) p.(Arg312His) Parent #1 - likely benign g.94495406C>T g.91733124C>T - - ROR2_000067 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs188376581 Germline - 6/2752 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-?/. - c.937+8C>T r.(=) p.(=) Unknown - likely benign g.94495396G>A - ROR2(NM_004560.4):c.937+8C>T - ROR2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.937+10C>T r.(=) p.(=) Unknown - likely benign g.94495394G>A - ROR2(NM_004560.3):c.937+10C>T, ROR2(NM_004560.4):c.937+10C>T - ROR2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.937+10C>T r.(=) p.(=) Unknown - likely benign g.94495394G>A - ROR2(NM_004560.3):c.937+10C>T, ROR2(NM_004560.4):c.937+10C>T - ROR2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.937+10C>T r.(=) p.(=) Unknown - likely benign g.94495394G>A - ROR2(NM_004560.3):c.937+10C>T, ROR2(NM_004560.4):c.937+10C>T - ROR2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.938-33C>T r.(?) p.(=) Unknown - benign g.94493470G>A - IVS6-33C>T - ROR2_000087 - PubMed: Mehawej 2012 - rs10992070 Germline - - - - - DNA SEQ - - RRS family PubMed: Mehawej 2012 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Lebanon - - - - - 2 Johan den Dunnen
+/. - c.977G>C r.(?) p.(Gly326Ala) Both (homozygous) - pathogenic (recessive) g.94493398C>G g.91731116C>G - 46,XY ROR2_000104 - PubMed: Aglan 2015 - - Germline - - - - - DNA SEQ - - RRS Fam2Pat2 PubMed: Aglan 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Egypt Egypt-L - - - - 1 Johan den Dunnen
-?/. - c.986G>A r.(?) p.(Ser329Asn) Unknown - likely benign g.94493389C>T - ROR2(NM_001318204.1):c.986G>A (p.(Ser329Asn)) - ROR2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.990del r.(?) p.(Thr331Profs*114) Paternal (inferred) ACMG pathogenic (recessive) g.94493386del g.91731104del 990delC - ROR2_000082 ACMG PVS1, PM2, PP4, PP5 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - RRS BAB9136;PatA6 PubMed: Zhang 2021, PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - 1 Johan den Dunnen
-?/. - c.1045C>G r.(?) p.(His349Asp) Unknown - likely benign g.94493330G>C g.91731048G>C ROR2(NM_001318204.1):c.1045C>G (p.(His349Asp)) - ROR2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1054A>G r.(?) p.(Ser352Gly) Unknown - likely benign g.94493321T>C - ROR2(NM_004560.3):c.1054A>G (p.S352G) - ROR2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1069G>C r.(?) p.(Glu357Gln) Unknown - VUS g.94493306C>G - ROR2(NM_004560.4):c.1069G>C (p.E357Q) - ROR2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1083del r.(?) p.(His362ThrfsTer83) Maternal (confirmed) ACMG pathogenic (recessive) g.94493297del g.91731015del c.1083delG - ROR2_000103 ACMG PVS1, PM2, PM3, PP3, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA20 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
+/+? 7 c.1096C>T r.(?) p.(Arg366Trp) Both (homozygous) - pathogenic (recessive) g.94493279G>A - - - ROR2_000009 - PubMed: Afzal 2000 - - Germline - - -HpaII - - DNA RFLP, SEQ, SSCA - - RRS - PubMed: Afzal 2000 1 family, 1 patient - - Pakistan - - - - - 1 Jacopo Celli
+?/. - c.1096C>T r.(?) p.(Arg366Trp) Paternal (confirmed) ACMG likely pathogenic (recessive) g.94493279G>A g.91730997G>A - - ROR2_000009 ACMG PM1, PM2, PM3, PP3, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA16 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+?/. - c.1100A>T r.(?) p.(Asn367Ile) Maternal (confirmed) ACMG likely pathogenic (recessive) g.94493275T>A g.91730993T>A - - ROR2_000102 ACMG PM1, PM2, PM3, PP3, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA22 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
?/. - c.1117G>A r.(?) p.(Glu373Lys) Unknown - VUS g.94493258C>T - - - ROR2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1154G>A r.(?) p.(Arg385His) Unknown - VUS g.94493221C>T - ROR2(NM_004560.4):c.1154G>A (p.(Arg385His), p.R385H) - ROR2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1154G>A r.(?) p.(Arg385His) Unknown - VUS g.94493221C>T - ROR2(NM_004560.4):c.1154G>A (p.(Arg385His), p.R385H) - ROR2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 8 c.1189C>T r.(?) p.(Arg397*) Both (homozygous) - pathogenic (recessive) g.94489020G>A - Arg396X - ROR2_000003 - PubMed: van Bokhoven 2000 - - Germline - - +DdeI; -AvaI - - DNA SEQ - - RRS - PubMed: van Bokhoven 2000 1 family, 1 patient - - Turkey - - - - - 1 Jacopo Celli
+/. - c.1189C>T r.(?) p.(Arg397Ter) Parent #2 ACMG pathogenic (recessive) g.94489020G>A g.91726738G>A - - ROR2_000003 ACMG PVS1, PM2, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA5 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey;United States - - - - - 1 Johan den Dunnen
+/. - c.1189C>T r.(?) p.(Arg397Ter) Paternal (confirmed) ACMG pathogenic (recessive) g.94489020G>A g.91726738G>A - - ROR2_000003 ACMG PVS1, PM2, PM3, PP4, PP5 PubMed: Lima 2022, Journal: Lima 2022 - - Germline - - - - - DNA SEQ - - RRS PatA22 PubMed: Lima 2022, Journal: Lima 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
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