All variants in the ARL3 gene

Information The variants shown are described using the NM_004311.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/. 2 c.91A>G r.(?) p.(Thr31Ala) ACMG likely pathogenic (recessive) g.104465159T>C g.102705402T>C - - ARL3_000011 - - - - Germline - - - - - Leming Fu
+/. - c.91A>G r.(?) p.(Thr31Ala) ACMG likely pathogenic (recessive) g.104465159T>C - - - ARL3_000011 - PubMed: Fu 2021 - - Germline - - - - - Johan den Dunnen
-/. - c.114A>G r.(?) p.(Ala38=) - benign g.104465136T>C g.102705379T>C ARL3(NM_004311.4):c.114A>G (p.A38=) - ARL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.114A>G r.(?) p.(Ala38=) - benign g.104465136T>C g.102705379T>C ARL3(NM_004311.4):c.114A>G (p.A38=) - ARL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.155A>C r.(?) p.(Asn52Thr) - VUS g.104459239T>G g.102699482T>G - - ARL3_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.166G>A r.(?) p.(Val56Ile) - VUS g.104459228C>T g.102699471C>T ARL3(NM_004311.4):c.166G>A (p.V56I) - ARL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.200A>T r.(?) p.(Asp67Val) - pathogenic (dominant) g.104459194T>A g.102699437T>A - - ARL3_000012 - - - - Germline yes - - - - Rinki Ratnapriya
+/. - c.200A>T r.(?) p.(Asp67Val) - pathogenic (dominant) g.104459194T>A - A200T - ARL3_000012 - PubMed: Ratnapriya 2021 - - Germline yes - - - - Johan den Dunnen
?/. - c.208G>A r.(?) p.(Gly70Arg) ACMG VUS g.104459186C>T g.102699429C>T - - ARL3_000018 ACMG PP3, PM2 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 3 c.212A>C r.(?) p.(Gln71Pro) ACMG pathogenic g.104459182T>G g.102699425T>G ARL3 c.212A>C, p.(Q71P) - ARL3_000014 - PubMed: Xiao-2021 - - Unknown yes - - - - LOVD
-?/. - c.264+8C>T r.(=) p.(=) - likely benign g.104459122G>A - ARL3(NM_004311.4):c.264+8C>T - ARL3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.265-2A>G r.spl? p.? - likely pathogenic g.104449702T>C - ARL3(NM_004311.4):c.265-2A>G - ARL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.269A>G r.(?) p.(Tyr90Cys) - pathogenic (dominant) g.104449696T>C g.102689939T>C - - ARL3_000010 - PubMed: Strom 2016 - - De novo - - - - - Johan den Dunnen
+/. - c.269A>G r.(?) p.(Tyr90Cys) - pathogenic (dominant) g.104449696T>C g.102689939T>C - - ARL3_000010 - PubMed: Strom 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.269A>G r.(?) p.(Tyr90Cys) - pathogenic (dominant) g.104449696T>C g.102689939T>C - - ARL3_000010 - PubMed: Strom 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.269A>G r.(?) p.(Tyr90Cys) - pathogenic (dominant) g.104449696T>C - - - ARL3_000010 - PubMed: Holtan 2019 - - De novo - - - - - Johan den Dunnen
+/. - c.269A>G r.(?) p.(Tyr90Cys) - pathogenic (dominant) g.104449696T>C - - - ARL3_000010 - PubMed: Holtan 2019 - - Germline yes - - - - Johan den Dunnen
+/. - c.296G>T r.(?) p.(Arg99Ile) - pathogenic (recessive) g.104449669C>A - - - ARL3_000015 - PubMed: Sheikh 2019 - - Germline yes - - - - Johan den Dunnen
+/. - c.296G>T r.(?) p.(Arg99Ile) - pathogenic (recessive) g.104449669C>A - - - ARL3_000015 - PubMed: Sheikh 2019 - - Germline yes - - - - Johan den Dunnen
?/. - c.308C>T r.(?) p.(Thr103Met) - VUS g.104449657G>A g.102689900G>A - - ARL3_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs370505468 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.309G>A r.(?) p.(Thr103=) - likely benign g.104449656C>T g.102689899C>T ARL3(NM_004311.4):c.309G>A (p.T103=) - ARL3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.353G>T r.(?) p.(Cys118Phe) - VUS g.104445721C>A g.102685964C>A - - ARL3_000005 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs551366324 Germline - 3/1203 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 5 c.353G>T r.(?) p.(Cys118Phe) ACMG likely pathogenic (recessive) g.104445721C>A g.102685964C>A - - ARL3_000005 - - - - Germline - - - - - Leming Fu
+/. - c.353G>T r.(?) p.(Cys118Phe) ACMG likely pathogenic (recessive) g.104445721C>A - - - ARL3_000005 - PubMed: Fu 2021 - - Germline - - - - - Johan den Dunnen
?/. - c.404C>T r.(?) p.(Pro135Leu) - VUS g.104445670G>A g.102685913G>A - - ARL3_000004 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201771386 Germline - 6/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.419C>T r.(?) p.(Ala140Val) ACMG VUS g.104445655G>A g.102685898G>A - - ARL3_000017 ACMG PM2 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.445C>T r.(445c>u) p.(Arg149Cys) - pathogenic (recessive) g.104445629G>A g.102685872G>A - - ARL3_000002 - PubMed: Alkanderi 2018 - - Germline yes - - - - John Sayer
+/. - c.446G>A r.(446g>a) p.(Arg149His) - pathogenic (recessive) g.104445628C>T g.102685871C>T - - ARL3_000003 - PubMed: Alkanderi 2018 - - Germline yes - - - - John Sayer
+/. - c.446G>A r.(446g>a) p.(Arg149His) - pathogenic (recessive) g.104445628C>T g.102685871C>T - - ARL3_000003 - PubMed: Alkanderi 2018 - - Germline yes - - - - John Sayer
+/. - c.446G>A r.(446g>a) p.(Arg149His) - pathogenic (recessive) g.104445628C>T g.102685871C>T - - ARL3_000003 - PubMed: Alkanderi 2018 - - Germline yes - - - - John Sayer
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