All variants in the ARL2BP gene

Information The variants shown are described using the NM_012106.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.32T>C r.(?) p.(Leu11Pro) - VUS g.57279311T>C g.57245399T>C - - ARL2BP_000005 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 3/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. - c.37_38del r.(?) p.(Phe13Leufs*5) - pathogenic g.57279316_57279317del g.57245404_57245405del - - ARL2BP_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs754087233 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. - c.38+2T>G r.spl p.? ACMG pathogenic g.57279319T>G - - - ARL2BP_000014 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
?/. - c.74T>A r.(?) p.(Val25Asp) - VUS g.57280027T>A g.57246115T>A - - ARL2BP_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.100G>C r.(?) p.(Asp34His) - VUS g.57280053G>C - ARL2BP(NM_012106.4):c.100G>C (p.D34H) - ARL2BP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.100+1G>C r.spl? p.? - likely pathogenic g.57280054G>C g.57246142G>C ARL2BP(NM_012106.4):c.100+1G>C - ARL2BP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2i c.101-1G>C r.[100_101ins[101-110_101-2;c],100_101ins[101-122_101-2;c],101-114del,101-108del,101_207del] p.[Asp34Alafs*9,Asp34Glufs*5] - pathogenic (recessive) g.57282448G>C g.57248536G>C - - ARL2BP_000004 - PubMed: Davidson 2013 - - Germline yes - - - - Dror Sharon
+/. - c.101-1G>C r.spl p.? ACMG pathogenic g.57282448G>C - - - ARL2BP_000004 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - Global Variome, with Curator vacancy
+/. - c.134T>G r.(?) p.(Met45Arg) - pathogenic (recessive) g.57282482T>G g.57248570T>G - - ARL2BP_000010 - PubMed: Davidson 2013 - - Germline - - - - - Johan den Dunnen
?/. - c.137A>G r.(?) p.(Asp46Gly) - VUS g.57282485A>G g.57248573A>G ARL2BP(NM_012106.4):c.137A>G (p.D46G) - ARL2BP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.156T>G r.(?) p.(Phe52Leu) - likely pathogenic g.57282504T>G g.57248592T>G c.156T>G, p.Phe52Leu - ARL2BP_000001 heterozygous PubMed: Gao 2019 - - Germline ? - - - - LOVD
-?/. - c.207C>T r.(?) p.(Tyr69=) - likely benign g.57282555C>T g.57248643C>T ARL2BP(NM_012106.3):c.207C>T (p.Y69=), ARL2BP(NM_012106.4):c.207C>T (p.Y69=) - ARL2BP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.207C>T r.(?) p.(Tyr69=) - likely benign g.57282555C>T g.57248643C>T ARL2BP(NM_012106.3):c.207C>T (p.Y69=), ARL2BP(NM_012106.4):c.207C>T (p.Y69=) - ARL2BP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.207+1G>A r.101_207del p.Asp35Phefs*8 - pathogenic (recessive) g.57282556G>A g.57248644G>A - - ARL2BP_000013 - PubMed: Fiorentino 2018 - - Germline - 1/1051 cases RD - - - Johan den Dunnen
+/. - c.207+1G>A r.spl? p.? - pathogenic (recessive) g.57282556G>A - 16:57282556G>A ENST00000219204.3:c.207+1G>A - ARL2BP_000013 - PubMed: Carss 2017 - - Germline - - - - - LOVD
+/. - c.207+1G>A r.spl? p.? - pathogenic g.57282556G>A - - - ARL2BP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.207+1G>A r.spl p.(?) - likely pathogenic g.57282556G>A g.57248644G>A ARL2BP c.207+1G>A, - ARL2BP_000013 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - LOVD
+/. - c.207+1G>T r.101_207del p.Asp35Phefs*8 - pathogenic (recessive) g.57282556G>T g.57248644G>T - - ARL2BP_000011 - PubMed: Audo 2017 - - Germline yes 1/358 cases arRP - - - Johan den Dunnen
+/. - c.207+1G>T r.101_207del p.Asp35Phefs*8 - pathogenic (recessive) g.57282556G>T g.57248644G>T - - ARL2BP_000011 - PubMed: Audo 2017 - - Germline yes - - - - Johan den Dunnen
+?/. - c.293+5G>A r.[208_293del,208_293delins[293+63_293+260],293_294ins[gugaa;293+6_294-1]] p.[Ile70Alafs*3,Ile70Alafs*18,His99*] - likely pathogenic (recessive) g.57283769G>A g.57249857G>A - - ARL2BP_000016 exon skipping, pseudo-exon insertion, intron retention PubMed: Bournazos 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. - c.294-1G>C r.spl p.? ACMG likely pathogenic (recessive) g.57284322G>C g.57250410G>C - - ARL2BP_000017 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
+/. - c.390+5G>A r.[294_390del,390_391ins[gtaaa;390+6_390+55],390_391ins[gtaaa;390+6_390+189],390_391ins[gtaaa;390+6_390+509]] p.[His99Lysfs*9,Glu131Glyfs*9] - pathogenic (recessive) g.57284424G>A g.57250512G>A - - ARL2BP_000012 - PubMed: Fiorentino 2018 - - Germline - 1/1051 cases RD - - - Johan den Dunnen
-?/. - c.391-10T>A r.(=) p.(=) - likely benign g.57286068T>A g.57252156T>A ARL2BP(NM_012106.3):c.391-10T>A - ARL2BP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.391-10T>A r.(=) p.(=) - VUS g.57286068T>A g.57252156T>A - - ARL2BP_000009 - PubMed: Xu 2014 - rs148264536 Germline - 3/314 case chromosomes - - - LOVD
?/. - c.391-10T>A r.(=) p.(=) - VUS g.57286068T>A g.57252156T>A - - ARL2BP_000009 - PubMed: Xu 2014 - rs148264536 Germline - 3/314 case chromosomes - - - LOVD
?/. - c.391-10T>A r.(=) p.(=) - VUS g.57286068T>A g.57252156T>A - - ARL2BP_000009 - PubMed: Xu 2014 - rs148264536 Germline - 3/314 case chromosomes - - - LOVD
-?/. - c.485G>A r.(?) p.(Arg162Gln) - likely benign g.57286172G>A g.57252260G>A ARL2BP(NM_012106.3):c.485G>A (p.R162Q), ARL2BP(NM_012106.4):c.485G>A (p.R162Q) - ARL2BP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.485G>A r.(?) p.(Arg162Gln) - likely benign g.57286172G>A - ARL2BP(NM_012106.3):c.485G>A (p.R162Q), ARL2BP(NM_012106.4):c.485G>A (p.R162Q) - ARL2BP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.485G>A r.(?) p.(Arg162Gln) ACMG VUS g.57286172G>A g.57252260G>A ARL2BP:NM_012106 c.G485A, p.R162Q - ARL2BP_000003 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
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