Full data view for gene RAB3GAP1

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

143 entries on 2 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_4i c.? r.0? p.0? Both (homozygous) - pathogenic (recessive) g.? - del ex1-4 - SNRNP200_000007 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K16 PubMed: Handley 2013 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 4i_5i c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - del ex4-5 - SNRNP200_000007 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K17 PubMed: Handley 2013 - - - Algeria - - - - - 1 Johan den Dunnen
+/. 23i_24i c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - del ex24 - SNRNP200_000007 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K18 PubMed: Handley 2013 - - - Germany - - - - - 1 Johan den Dunnen
?/. 24 c.? r.? p.? Both (homozygous) - VUS g.? - c.2894_2895delAA (Lys965ArgfsTer4) - SNRNP200_000007 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? R-0556 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.9C>T r.(?) p.(Ala3=) Unknown - likely benign g.135809886C>T - RAB3GAP1(NM_001172435.1):c.9C>T (p.A3=) - RAB3GAP1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.9del r.(?) p.(Asp4ThrfsTer31) Both (homozygous) - pathogenic (recessive) g.135809886del g.135052316del 9delC - RAB3GAP1_000052 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K7 PubMed: Handley 2013 - - - Egypt - - - - - 1 Johan den Dunnen
?/. - c.18+4A>G r.spl? p.? Unknown - VUS g.135809899A>G g.135052329A>G RAB3GAP1(NM_001172435.1):c.18+4A>G - RAB3GAP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.28G>T r.(?) p.(Glu10Ter) Both (homozygous) - likely pathogenic g.135810009G>T g.135052439G>T - - RAB3GAP1_000093 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3829 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.52A>C r.(?) p.(Thr18Pro) Both (homozygous) - pathogenic (recessive) g.135810033A>C g.135052463A>C - - RAB3GAP1_000053 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K1 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.52A>C r.(?) p.(Thr18Pro) Both (homozygous) - pathogenic (recessive) g.135810033A>C g.135052463A>C - - RAB3GAP1_000053 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K2 PubMed: Handley 2013 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.52A>C r.(?) p.(Thr18Pro) Both (homozygous) - pathogenic (recessive) g.135810033A>C g.135052463A>C - - RAB3GAP1_000053 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K3 PubMed: Handley 2013 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.52A>C r.(?) p.(Thr18Pro) Both (homozygous) - pathogenic (recessive) g.135810033A>C g.135052463A>C - - RAB3GAP1_000053 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K4 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.52A>C r.(?) p.(Thr18Pro) Both (homozygous) - pathogenic (recessive) g.135810033A>C g.135052463A>C - - RAB3GAP1_000053 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K5 PubMed: Handley 2013 - - - Morocco - - - - - 1 Johan den Dunnen
+/. 2 c.69G>A r.(?) p.(Trp23Ter) Parent #1 - pathogenic (recessive) g.135810050G>A g.135052480G>A - - RAB3GAP1_000054 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K41 PubMed: Handley 2013 - - - France - - - - - 1 Johan den Dunnen
+/. 2 c.71A>T r.(?) p.(Glu24Val) Both (homozygous) - pathogenic (recessive) g.135810052A>T g.135052482A>T - - RAB3GAP1_000055 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K6 PubMed: Handley 2013 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 3 c.82del r.(?) p.(Ser28ProfsTer7) Both (homozygous) - pathogenic (recessive) g.135815588del g.135058018del 82delT - RAB3GAP1_000056 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K11 PubMed: Handley 2013 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 3 c.120del r.(?) p.(Ile40Metfs*54) Paternal (confirmed) ACMG pathogenic g.135815626del g.135058056del 119del - RAB3GAP1_000102 - - ClinVar-3378402 - Germline yes - - - - DNA SEQ-NG-I peripheral blood CES ID - - - F - - (not applicable) - - - - - 1 Marketa Wayhelova
+/. 3 c.131del r.(?) p.(Leu44TrpfsTer50) Both (homozygous) - pathogenic (recessive) g.135815637del g.135058067del 129delT - RAB3GAP1_000057 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K15 PubMed: Handley 2013 - - - India - - - - - 1 Johan den Dunnen
+/. 3 c.150+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.135815657G>C g.135058087G>C - - RAB3GAP1_000058 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K39 PubMed: Handley 2013 - - - United States white - - - - 1 Johan den Dunnen
-?/. - c.150+9T>C r.(=) p.(=) Unknown - likely benign g.135815665T>C - RAB3GAP1(NM_001172435.1):c.150+9T>C - RAB3GAP1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151-5T>G r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.135848563T>G - - - RAB3GAP1_000045 - - - - Somatic yes - XapI- - - DNA, RNA ARMS, microscope, PCR, PCRdig, RFLP, RT-PCR, SEQ, SEQ-NG-I Blood WES microcephaly RABopathies 1 - - F yes Iran Lur - - - - 1 Ehsan Razmara
+/. 3i c.151-2A>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.135848566A>T g.135090996A>T - - RAB3GAP1_000059 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K25 PubMed: Handley 2013 - - - Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.168C>T r.(?) p.(Gly56=) Unknown - likely benign g.135848585C>T g.135091015C>T RAB3GAP1(NM_001172435.1):c.168C>T (p.G56=) - RAB3GAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240A>C r.(?) p.(Val80=) Unknown - likely benign g.135848657A>C - RAB3GAP1(NM_001172435.1):c.240A>C (p.V80=) - RAB3GAP1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.258_261del r.(?) p.(Gly88Argfs*5) Unknown - likely pathogenic g.135848675_135848678del - RAB3GAP1(NM_001172435.1):c.258_261delAGAA (p.G88Rfs*5) - RAB3GAP1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.264_270delinsTTATTA r.(?) p.(Lys89TyrfsTer2) Both (homozygous) - pathogenic (recessive) g.135848681_135848687delinsTTATTA g.135091111_135091117delinsTTATTA - - RAB3GAP1_000060 - PubMed: Morris-Rosendahl 2010 - - Germline - - - - - DNA SEQ - - WARBM Pat6 PubMed: Morris-Rosendahl 2010 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M - Guatemala - - - - - 2 Johan den Dunnen
+/. - c.264_270delinsTTATTA r.(?) p.(Lys89TyrfsTer2) Both (homozygous) - pathogenic (recessive) g.135848681_135848687delinsTTATTA g.135091111_135091117delinsTTATTA - - RAB3GAP1_000060 - PubMed: Morris-Rosendahl 2010 - - Germline - - - - - DNA SEQ - - WARBM Pat7 PubMed: Morris-Rosendahl 2010 sib F - Guatemala - - - - - 1 Johan den Dunnen
+/. 4 c.280G>T r.(?) p.(Glu94Ter) Parent #1 - pathogenic (recessive) g.135848697G>T g.135091127G>T - - RAB3GAP1_000061 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K42 PubMed: Handley 2013 - - - Saudi Arabia;Turkey - - - - - 1 Johan den Dunnen
+/. 6 c.401_407del r.(?) p.(Ala134ValfsTer14) Parent #2 - pathogenic (recessive) g.135870759_135870765del g.135113189_135113195del 401_407delCACACAG - RAB3GAP1_000062 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K41 PubMed: Handley 2013 - - - France - - - - - 1 Johan den Dunnen
-?/. - c.411C>T r.(?) p.(Asp137=) Unknown - likely benign g.135870769C>T g.135113199C>T RAB3GAP1(NM_001172435.1):c.411C>T (p.D137=) - RAB3GAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411C>T r.(?) p.(Asp137=) Unknown - likely benign g.135870769C>T g.135113199C>T RAB3GAP1(NM_001172435.1):c.411C>T (p.D137=) - RAB3GAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.442C>T r.(?) p.(Leu148Phe) Unknown - VUS g.135870800C>T - RAB3GAP1(NM_001172435.1):c.442C>T (p.L148F) - RAB3GAP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.473del r.(?) p.(Asn158ThrfsTer21) Parent #1 - pathogenic (recessive) g.135870831del g.135113261del 473delA - RAB3GAP1_000063 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K39 PubMed: Handley 2013 - - - United States white - - - - 1 Johan den Dunnen
+?/. 6 c.475_478del r.(?) p.(Thr159Alafs*19) Both (homozygous) - likely pathogenic g.135870833_135870836del g.135113263_135113266del - - RAB3GAP1_000009 Aligianis et al 2005 PubMed: Rump 2016 - - Germline yes 1/38 patients - - - DNA SEQ-NG-I DNA isolated from Blood - WARBM1 - PubMed: Rump 2016 - F - - - - - - - 1 Birgit Sikkema-Raddatz
+/. - c.475_478del r.(?) p.(Thr159AlafsTer19) Both (homozygous) - pathogenic (recessive) g.135870833_135870836del g.135113263_135113266del - - RAB3GAP1_000009 - PubMed: Aligianis 2005 - - Germline - - - - - DNA SEQ - - WARBM FamK4 PubMed: Aligianis 2005 - F yes Morocco - - - - - 1 Johan den Dunnen
+?/. - c.475_478del r.(?) p.(Thr159Alafs*19) Both (homozygous) - likely pathogenic g.135870833_135870836del g.135113263_135113266del RAB3GAP1 c.475_478delACTG, p.T159Afs*19 - RAB3GAP1_000009 homozygous PubMed: Rump 2016 - - Unknown ? - - - - DNA arraySNP, SEQ-NG-I, SEQ - - WARBM 1 PubMed: Rump 2016 - F - - - - - - - 1 LOVD
+/. - c.520C>T r.(?) p.(Arg174Ter) Unknown - pathogenic g.135872823C>T - RAB3GAP1(NM_001172435.2):c.520C>T (p.R174*) - RAB3GAP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.520C>T r.(?) p.(Arg174Ter) Parent #1 - pathogenic (recessive) g.135872823C>T g.135115253C>T - - RAB3GAP1_000036 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K35 PubMed: Handley 2013 - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.559C>T r.(?) p.(Arg187*) Both (homozygous) ACMG likely pathogenic g.135872862C>T g.135115292C>T - - RAB3GAP1_000011 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - WARBM1 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 7 c.641del r.(?) p.(Ser214Ter) Both (homozygous) - pathogenic (recessive) g.135872944del g.135115374del 641delC - RAB3GAP1_000064 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K24 PubMed: Handley 2013 - - - Israel - - - - - 1 Johan den Dunnen
+/. - c.648+5G>A r.483_648del p.Cys161fs Both (homozygous) - pathogenic (recessive) g.135872956G>A g.135115386G>A - - RAB3GAP1_000065 - PubMed: Morris-Rosendahl 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - WARBM Pat2 PubMed: Morris-Rosendahl 2010 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.648+5G>A r.483_648del p.Cys161fs Both (homozygous) - pathogenic (recessive) g.135872956G>A g.135115386G>A - - RAB3GAP1_000065 - PubMed: Morris-Rosendahl 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - WARBM Pat3 PubMed: Morris-Rosendahl 2010 sib M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.649-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878387A>G g.135120817A>G - - RAB3GAP1_000066 - PubMed: Aligianis 2005 - - Germline - - - - - DNA SEQ - - WARBM FamK5 PubMed: Aligianis 2005 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.649-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878387A>G g.135120817A>G - - RAB3GAP1_000066 - PubMed: Aligianis 2005 - - Germline - - - - - DNA SEQ - - WARBM FamK9 PubMed: Aligianis 2005 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.649-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878387A>G g.135120817A>G - - RAB3GAP1_000066 - PubMed: Aligianis 2005 - - Germline - - - - - DNA SEQ - - WARBM FamK10 PubMed: Aligianis 2005 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 8 c.659del r.(?) p.(Leu220Ter) Parent #2 - pathogenic (recessive) g.135878399del g.135120829del 657delT - RAB3GAP1_000067 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K35 PubMed: Handley 2013 - - - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.665del r.(?) p.(Pro222HisfsTer30) Both (homozygous) - pathogenic (recessive) g.135878405del g.135120835del 665delC - RAB3GAP1_000068 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K8 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.669G>T r.(?) p.(Leu223Phe) Unknown - benign g.135878409G>T g.135120839G>T RAB3GAP1(NM_001172435.1):c.669G>T (p.L223F) - RAB3GAP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.691C>T r.(?) p.(Arg231Ter) Parent #2 - pathogenic (recessive) g.135878431C>T g.135120861C>T - - RAB3GAP1_000069 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K37 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.748+1G>A r.spl? p.? Unknown - pathogenic g.135878489G>A g.135120919G>A RAB3GAP1(NM_001172435.1):c.748+1G>A - RAB3GAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.748+1G>A r.spl? p.? Unknown - pathogenic g.135878489G>A g.135120919G>A RAB3GAP1(NM_001172435.1):c.748+1G>A - RAB3GAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i c.748+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878489G>A g.135120919G>A - - RAB3GAP1_000018 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K27 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 8i c.748+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878489G>A g.135120919G>A - - RAB3GAP1_000018 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K28 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 8i c.748+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878489G>A g.135120919G>A - - RAB3GAP1_000018 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K29 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 8i c.748+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878489G>A g.135120919G>A - - RAB3GAP1_000018 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K30 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 8i c.748+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878489G>A g.135120919G>A - - RAB3GAP1_000018 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K31 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 8i c.748+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.135878489G>A g.135120919G>A - - RAB3GAP1_000018 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K42 PubMed: Handley 2013 - - - Saudi Arabia;Turkey - - - - - 1 Johan den Dunnen
+/. - c.748+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878489G>A g.135120919G>A - - RAB3GAP1_000018 - PubMed: Aligianis 2005 - - Germline - - - - - DNA SEQ - - WARBM FamK12 PubMed: Aligianis 2005 - - yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.748+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878489G>A g.135120919G>A - - RAB3GAP1_000018 - PubMed: Yuksel 2007 - - Germline - - - - - DNA SEQ - - WARBM patient PubMed: Yuksel 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. 8i c.748+2T>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878490T>G g.135120920T>G - - RAB3GAP1_000070 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K26 PubMed: Handley 2013 - - - Egypt - - - - - 1 Johan den Dunnen
+/. - c.748+2T>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.135878490T>G g.135120920T>G - - RAB3GAP1_000070 - PubMed: Abdel-Salam 2007 - - Germline - - - - - DNA SEQ - - WARBM patient PubMed: Abdel-Salam 2007 - - - Egypt - - - - - 1 Johan den Dunnen
+/. - c.899+1G>A r.spl? p.? Both (homozygous) ACMG pathogenic g.135883820G>A g.135126250G>A - - RAB3GAP1_000010 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - WARBM1 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.899+1G>A r.spl? p.? Unknown - pathogenic g.135883820G>A g.135126250G>A - - RAB3GAP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.899+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135883820G>A g.135126250G>A - - RAB3GAP1_000010 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F47‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. 10i c.899+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135883820G>A g.135126250G>A - - RAB3GAP1_000010 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K32 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 10i c.899+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.135883820G>A g.135126250G>A - - RAB3GAP1_000010 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K33 PubMed: Handley 2013 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 10i c.899+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.135883820G>A g.135126250G>A - - RAB3GAP1_000010 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K38 PubMed: Handley 2013 - - - Czech Republic - - - - - 1 Johan den Dunnen
?/. - c.899+8T>G r.(=) p.(=) Unknown - VUS g.135883827T>G - RAB3GAP1(NM_012233.3):c.899+8T>G - RAB3GAP1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.913A>G r.(?) p.(Ile305Val) Unknown - likely benign g.135884166A>G g.135126596A>G RAB3GAP1(NM_001172435.1):c.913A>G (p.I305V) - RAB3GAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.913A>G r.(?) p.(Ile305Val) Unknown - benign g.135884166A>G g.135126596A>G RAB3GAP1(NM_001172435.1):c.913A>G (p.I305V) - RAB3GAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.913A>G r.(?) p.(Ile305Val) Parent #1 - benign g.135884166A>G g.135126596A>G - - RAB3GAP1_000019 89 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116775947 Germline - 89/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 89 Mohammed Faruq
+/. 11 c.929G>A r.(?) p.(Trp310Ter) Parent #1 - pathogenic (recessive) g.135884182G>A g.135126612G>A - - RAB3GAP1_000051 no variant 2nd chromosome PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K40 PubMed: Handley 2013 - - - - white;Europe - - - - 1 Johan den Dunnen
+/. - c.1003del r.(?) p.(Cys335AlafsTer26) Both (homozygous) - pathogenic (recessive) g.135887594del g.135130024del - - RAB3GAP1_000071 - PubMed: Aligianis 2005 - - Germline - - - - - DNA SEQ - - WARBM FamK14 PubMed: Aligianis 2005 - M yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.1006C>T r.(?) p.(Arg336Cys) Unknown - VUS g.135887597C>T g.135130027C>T RAB3GAP1(NM_001172435.1):c.1006C>T (p.R336C), RAB3GAP1(NM_012233.2):c.1006C>T (p.(Arg336Cys)) - RAB3GAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1006C>T r.(?) p.(Arg336Cys) Unknown - likely benign g.135887597C>T - RAB3GAP1(NM_001172435.1):c.1006C>T (p.R336C), RAB3GAP1(NM_012233.2):c.1006C>T (p.(Arg336Cys)) - RAB3GAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1009C>T r.(?) p.(Arg337Ter) Unknown - pathogenic g.135887600C>T g.135130030C>T - - RAB3GAP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1009C>T r.(?) p.(Arg337*) Both (homozygous) - pathogenic (recessive) g.135887600C>T g.135130030C>T - - RAB3GAP1_000037 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F46‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1009C>T r.(?) p.(Arg337*) Both (homozygous) ACMG likely pathogenic g.135887600C>T g.135130030C>T RAB3GAP1, NM_001172435.1, c.1009C>T, p.Arg337* - RAB3GAP1_000037 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 6 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
+/. - c.1009C>T r.(?) p.(Arg337Ter) Both (homozygous) - pathogenic (recessive) g.135887600C>T g.135130030C>T - - RAB3GAP1_000037 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 13DG1449 PubMed: Patel 2017 simplex case - - - - - - - - 1 Johan den Dunnen
+/. - c.1039C>T r.(?) p.(Arg347Ter) Unknown - pathogenic g.135887630C>T g.135130060C>T - - RAB3GAP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1039C>T r.(?) p.(Arg347Ter) Both (homozygous) - pathogenic (recessive) g.135887630C>T g.135130060C>T - - RAB3GAP1_000032 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K20 PubMed: Handley 2013 - - - Egypt - - - - - 1 Johan den Dunnen
+/. 12 c.1039C>T r.(?) p.(Arg347Ter) Parent #1 - pathogenic (recessive) g.135887630C>T g.135130060C>T - - RAB3GAP1_000032 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K37 PubMed: Handley 2013 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1039C>T r.(?) p.(Arg347Ter) Parent #1 - pathogenic (recessive) g.135887630C>T g.135130060C>T - - RAB3GAP1_000032 ACMG PSV1, PS4sup,PM2 PubMed: Kessel 2021 VCV000545410.1 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT WARBM1309 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
-/. - c.1041A>G r.(?) p.(Arg347=) Unknown - benign g.135887632A>G g.135130062A>G RAB3GAP1(NM_001172435.1):c.1041A>G (p.R347=) - RAB3GAP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1174C>T r.(?) p.(Arg392Ter) Both (homozygous) - pathogenic (recessive) g.135888229C>T g.135130659C>T - - RAB3GAP1_000072 - PubMed: Aligianis 2005 - - Germline - - - - - DNA SEQ - - WARBM FamK13 PubMed: Aligianis 2005 - M no South Africa - - - - - 1 Johan den Dunnen
?/. - c.1207A>T r.(?) p.(Asn403Tyr) Unknown - VUS g.135888262A>T - RAB3GAP1(NM_001172435.1):c.1207A>T (p.N403Y) - RAB3GAP1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13i c.1237-2A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.135890463A>G g.135132893A>G - - RAB3GAP1_000073 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K34 PubMed: Handley 2013 - - - Canada - - - - - 1 Johan den Dunnen
-?/. - c.1261G>A r.(?) p.(Glu421Lys) Unknown - likely benign g.135890489G>A g.135132919G>A RAB3GAP1(NM_001172435.1):c.1261G>A (p.E421K) - RAB3GAP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1268C>G r.(?) p.(Pro423Arg) Unknown - likely benign g.135890496C>G g.135132926C>G RAB3GAP1(NM_001172435.1):c.1268C>G (p.P423R) - RAB3GAP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1293_1294del r.(?) p.(Asp431GlufsTer2) Both (homozygous) - pathogenic (recessive) g.135890521_135890522del g.135132951_135132952del 1293_1294delTA - RAB3GAP1_000074 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K14 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 14 c.1326T>G r.(?) p.(Tyr442Ter) Both (homozygous) - pathogenic (recessive) g.135890554T>G g.135132984T>G - - RAB3GAP1_000075 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K19 PubMed: Handley 2013 - - - India - - - - - 1 Johan den Dunnen
+/. 15 c.1335del r.(?) p.(Tyr445Ter) Both (homozygous) - pathogenic (recessive) g.135891439del g.135133869del 1335delC - RAB3GAP1_000076 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K10 PubMed: Handley 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1335del r.(?) p.(Tyr445Ter) Both (homozygous) - pathogenic (recessive) g.135891439del g.135133869del 1335delC - RAB3GAP1_000076 ACMG PSV1, PS4sup,PM2 PubMed: Kessel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT WARBM1511 PubMed: Kessel 2021 family, 2 affected - - Denmark - - - - - 2 Johan den Dunnen
+/. - c.1339C>T r.(?) p.(Gln447Ter) Both (homozygous) - pathogenic (recessive) g.135891443C>T g.135133873C>T - - RAB3GAP1_000077 - PubMed: Aligianis 2005 - - Germline - - - - - DNA SEQ - - WARBM FamK1 PubMed: Aligianis 2005 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. 15 c.1381del r.(?) p.(Ala461Leufs*6) Maternal (confirmed) ACMG pathogenic g.135891485del g.135133915del 1380del - RAB3GAP1_000103 - - ClinVar-3378403 - Germline yes - - - - DNA SEQ-NG-I peripheral blood CES ID - - - F - - (not applicable) - - - - - 1 Marketa Wayhelova
+/. 6 c.1389T>A r.(?) p.(Cys463Ter) Parent #1 - pathogenic (recessive) g.135891493T>A g.135133923T>A - - RAB3GAP1_000078 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K36 PubMed: Handley 2013 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1410C>A r.(?) p.(Tyr470Ter) Both (homozygous) - pathogenic (recessive) g.135891514C>A g.135133944C>A - - RAB3GAP1_000079 - PubMed: Morris-Rosendahl 2010 - - Germline - - - - - DNA SEQ - - WARBM Pat5 PubMed: Morris-Rosendahl 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Denmark - - - - - 1 Johan den Dunnen
+/. - c.1410C>A r.(?) p.(Tyr470Ter) Both (homozygous) - pathogenic (recessive) g.135891514C>A g.135133944C>A - - RAB3GAP1_000079 ACMG PSV1, PS4sup,PM2 PubMed: Kessel 2021 VCV000007061.1 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT WARBM1552 PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+/. 15 c.1417_1423del r.(?) p.(Gly473LysfsTer23) Both (homozygous) - pathogenic (recessive) g.135891521_135891527del g.135133951_135133957del 1417_1423delGGGTTGA - RAB3GAP1_000080 - PubMed: Handley 2013 - - Germline - - - - - DNA SEQ - - WARBM K9 PubMed: Handley 2013 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1417_1423del r.(?) p.(Gly473LysfsTer23) Both (homozygous) ACMG pathogenic g.135891521_135891527del g.135133951_135133957del RAB3GAP1 c.1417_1423del p.(Gly473LysfsTer23) hom - RAB3GAP1_000080 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17014480 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
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