All variants in the GORAB gene

Information The variants shown are described using the NM_152281.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.28dup r.(?) p.(Ala10Glyfs*26) - VUS g.170501317dup - GORAB(NM_152281.3):c.-48dup - GORAB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 c.75_76delinsCT r.(?) p.(Met26Leu) - pathogenic (recessive) g.170501364_170501365delinsCT g.170532223_170532224delinsCT -1_1GA>CT (Met1?) - GORAB_000013 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 c.75_76delinsCT r.(?) p.(Met26Leu) - pathogenic (recessive) g.170501364_170501365delinsCT g.170532223_170532224delinsCT -1_1GA>CT (Met1?) - GORAB_000013 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 c.75_76delinsCT r.(?) p.(Met26Leu) - pathogenic (recessive) g.170501364_170501365delinsCT g.170532223_170532224delinsCT -1_1GA>CT (Met1?) - GORAB_000013 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
-/. - c.96= r.(=) p.(Gly32=) - benign g.170501385A>C - GORAB(NM_152281.3):c.21A>C (p.G7=) - GORAB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.96= r.(=) p.(Gly32=) - benign g.170501385A>C - GORAB(NM_152281.3):c.21A>C (p.G7=) - GORAB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.136+17A>C r.(=) p.(=) - benign g.170501442A>C - GORAB(NM_152281.3):c.61+17A>C - GORAB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.137-3T>C r.spl? p.? - likely benign g.170508348T>C g.170539207T>C GORAB(NM_001146039.1):c.137-3T>C (p.?), GORAB(NM_152281.3):c.62-3T>C - GORAB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.137-3T>C r.spl? p.? - benign g.170508348T>C - GORAB(NM_001146039.1):c.137-3T>C (p.?), GORAB(NM_152281.3):c.62-3T>C - GORAB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 c.211G>T r.(?) p.(Glu71Ter) - pathogenic (recessive) g.170508425G>T g.170539284G>T 136G>T - GORAB_000014 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. - c.226_227insA r.(?) p.(Leu76Hisfs*24) - likely pathogenic (!) g.170508440_170508441insA g.170539299_170539300insA NM_152281.2:c.226_227insA:p.(Leu76Hisfs*24) - GORAB_000007 variant description correct?, resembles c.226_227insA (=306dup) reported in other publications PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. 2 c.265C>T r.(?) p.(Gln89Ter) - pathogenic (recessive) g.170508479C>T g.170539338C>T 190C>T - GORAB_000015 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup NM_152281.2:c.306dup:p.(Pro103Thrfs*20) - GORAB_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup NM_152281.2:c.306dup:p.(Pro103Thrfs*20) - GORAB_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup NM_152281.2:c.306dup:p.(Pro103Thrfs*20) - GORAB_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup NM_152281.2:c.306dup:p.(Pro103Thrfs*20) - GORAB_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup NM_152281.2:c.306dup:p.(Pro103Thrfs*20) - GORAB_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup NM_152281.2:c.306dup:p.(Pro103Thrfs*20) - GORAB_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup 226_227insA (Q76QfsX20) - GORAB_000003 - PubMed: Al-Dosari 2009 - - Germline yes - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup 226_227insA (Q76QfsX20) - GORAB_000003 - PubMed: Al-Dosari 2009 - - Germline yes - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup 226_227insA (Q76QfsX20) - GORAB_000003 - PubMed: Al-Dosari 2009 - - Germline yes - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup 226_227insA (Q76QfsX20) - GORAB_000003 - PubMed: Al-Dosari 2009 - - Germline yes - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103Thrfs*20) - pathogenic (recessive) g.170508520dup g.170539379dup 226_227insA (Q76QfsX20) - GORAB_000003 - PubMed: Al-Dosari 2009 - - Germline yes - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 306dupA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 301_302insA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 301_302insA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 301_302insA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 301_302insA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.306dup r.(?) p.(Pro103ThrfsTer20) - pathogenic (recessive) g.170508520dup g.170539379dup 301_302insA - GORAB_000003 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. 2 c.332del r.(?) p.(Pro111ArgfsTer70) - pathogenic (recessive) g.170508546del g.170539405del 257delC - GORAB_000016 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
?/. - c.335G>A r.(?) p.(Ser112Asn) - VUS g.170508549G>A - GORAB(NM_152281.3):c.260G>A (p.(Ser87Asn)) - GORAB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.363T>C r.(?) p.(Gly121=) - likely benign g.170508577T>C - GORAB(NM_152281.3):c.288T>C (p.G96=) - GORAB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 2 c.442G>T r.(?) p.(Glu148Ter) - pathogenic (recessive) g.170508656G>T g.170539515G>T 367G>T - GORAB_000018 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. 2 c.442G>T r.(?) p.(Glu148Ter) - pathogenic (recessive) g.170508656G>T g.170539515G>T 367G>T - GORAB_000018 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. 2 c.442G>T r.(?) p.(Glu148Ter) - pathogenic (recessive) g.170508656G>T g.170539515G>T 367G>T - GORAB_000018 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. 2 c.442G>T r.(?) p.(Glu148Ter) - pathogenic (recessive) g.170508656G>T g.170539515G>T 367G>T - GORAB_000018 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. - c.442G>T r.(?) p.(Glu148*) - pathogenic g.170508656G>T - GORAB(NM_152281.3):c.367G>T (p.E123*) - GORAB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 c.451C>G r.(?) p.(Pro151Ala) - VUS g.170508665C>G g.170539524C>G - - GORAB_000012 - - - - Germline/De novo (untested) - - - - - Jessica Easterday
?/. - c.599C>T r.(?) p.(Ser200Phe) - VUS g.170513848C>T g.170544707C>T NM_152281.3:c.524C>T (Ser175Phe) - GORAB_000027 ACMG PVS1, PM2, PP3 PubMed: Tuysuz 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.635G>A r.(?) p.(Arg212Gln) - VUS g.170513884G>A g.170544743G>A - - GORAB_000006 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs190557815 Germline - 8/2795 individuals - - - Mohammed Faruq
?/. - c.700C>T r.(?) p.(Arg234Trp) - VUS g.170513949C>T - GORAB(NM_001146039.1):c.700C>T (p.(Arg234Trp)) - GORAB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.733G>C r.(?) p.(Ala245Pro) - pathogenic (recessive) g.170513982G>C g.170544841G>C NM_152281.2:c.733G>C:p.(Ala245Pro) - GORAB_000008 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+/. - c.733G>C r.(?) p.(Ala245Pro) - pathogenic (recessive) g.170513982G>C - 658G>C (A220P) - GORAB_000008 - PubMed: Al-Dosari 2009 - - Germline yes - - - - Johan den Dunnen
+/. - c.733G>C r.(?) p.(Ala245Pro) - pathogenic (recessive) g.170513982G>C - 658G>C (A220P) - GORAB_000008 - PubMed: Al-Dosari 2009 - - Germline yes - - - - Johan den Dunnen
+/. - c.733G>C r.(?) p.(Ala245Pro) - pathogenic (recessive) g.170513982G>C g.170544841G>C - - GORAB_000008 - PubMed: Alazami 2016 - - Germline - - - - - Johan den Dunnen
+/. 4 c.737+5G>C r.spl p.(Ser200_Arg246del) - pathogenic (recessive) g.170513991G>C g.170544850G>C 662+5G>C - GORAB_000019 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
?/. - c.785A>T r.(?) p.(Asp262Val) - VUS g.170521203A>T - GORAB(NM_152281.3):c.710A>T (p.(Asp237Val)) - GORAB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.794G>T r.(?) p.(Arg265Leu) - VUS g.170521212G>T - GORAB(NM_152281.2):c.794G>T (p.(Arg265Leu)) - GORAB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.814C>T r.(?) p.(Gln272Ter) - pathogenic (recessive) g.170521232C>T g.170552091C>T 739C>T - GORAB_000020 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. 5 c.859C>T r.(?) p.(Arg287Ter) - pathogenic (recessive) g.170521277C>T g.170552136C>T 784C>T - GORAB_000021 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
+/. 5 c.859C>T r.(?) p.(Arg287Ter) - pathogenic (recessive) g.170521277C>T g.170552136C>T 784C>T - GORAB_000021 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
-/. - c.958G>A r.(?) p.(Glu320Lys) - benign g.170521376G>A g.170552235G>A GORAB(NM_001320252.2):c.418G>A (p.E140K), GORAB(NM_152281.3):c.883G>A (p.E295K) - GORAB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.958G>A r.(?) p.(Glu320Lys) - benign g.170521376G>A g.170552235G>A GORAB(NM_001320252.2):c.418G>A (p.E140K), GORAB(NM_152281.3):c.883G>A (p.E295K) - GORAB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.995T>G r.(?) p.(Leu332Ter) - pathogenic g.170521413T>G g.170552272T>G GORAB(NM_001320252.1):c.455T>G (p.L152*), GORAB(NM_152281.3):c.920T>G (p.(Leu307Ter)) - GORAB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.995T>G r.(?) p.(Leu332Ter) - VUS g.170521413T>G - GORAB(NM_001320252.1):c.455T>G (p.L152*), GORAB(NM_152281.3):c.920T>G (p.(Leu307Ter)) - GORAB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1078del r.(?) p.(Ser360Profs*4) - VUS g.170521496del - GORAB(NM_152281.3):c.1003del (p.(Ser335ProfsTer4)) - GORAB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.1125_1128del r.(?) p.(Phe375LeufsTer26) - pathogenic (recessive) g.170521543_170521546del g.170552402_170552405del 1050_1053delTCTT - GORAB_000022 normal mRNA level, no protein in fibroblasts PubMed: Hennies 2008 - - Germline - - - - - Johan den Dunnen
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