Unique variants in the ARL6 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001278293.1 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Reported     

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.(123+1_124-1)_(535+1_*3193) r.spl p.(?) - likely pathogenic g.? g.? ARL6, variant 1 :Deletion exon 4-9, variant 2 :Deletion exon 4-9 - OPA1_000149 1 more item PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. 1 _1_8_ c.-484_*486{2} r.(?) p.(?) ACMG likely pathogenic g.? g.? TTC8 c.403G>A, p.(Ala135Thr), c.595-5C>T, p.(?), ARL6 c.(?_-1), _(*1_?)dup - OPA1_000149 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
+/. 1 2i_8_ c.123+1118_*486{0} r.? p.? - pathogenic g.97488192_97542175del g.97769348_97823331del c.123+1118del53985 - ARL6_000027 variant description deduced from that reported PubMed: Li 2017 - - Germline yes - - - - James Hejtmancik
+/. 2 _1 c.-589A>G r.(?) p.(=) - likely benign g.97483260A>G - c.-688A>G - ARL6_000052 - PubMed: M'hamdi 2014 - - Unknown - - - - - LOVD
?/. 1 - c.-484_*16436587del r.0? p.0? ACMG VUS g.97483365_113953480del g.97764521_114234636del chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous - IMPG2_000140 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Unknown ? - - - - LOVD
+/. 1 1i_2i c.-28+1110_123+1del r.spl? p.? - pathogenic g.97484931_97487075del - c.[(?_-30)_(123+?))del;[(?-30)_(123+?)]del - ARL6_000059 - PubMed: Redin-2012 - - Germline yes - - - - LOVD
+/. 2 2 c.4G>T r.(4g>u) p.(Gly2*) - pathogenic (recessive) g.97486955G>T - BBS3:p.G2X (c.4G>T) - ARL6_000057 expression cloning mini-gene splicing assay shows no effect on splicing PubMed: Pereiro-2010, PubMed: Alvarez-Satta 2017 - - Germline yes 0/100 ethnically matched control chromosomes. - - - LOVD
-/. 1 - c.24A>C r.(?) p.(Ser8=) - benign g.97486975A>C g.97768131A>C ARL6(NM_032146.5):c.24A>C (p.S8=) - ARL6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.36_39dup r.(?) p.(Lys14Profs*15) ACMG pathogenic g.97486987_97486990dup g.97768143_97768146dup ARL6 c.36_39dupCCTG, p.(Lys14Profs*15) - ARL6_000065 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - LOVD
?/. 1 - c.46_48del r.(?) p.(Lys16del) - VUS g.97486997_97486999del g.97768153_97768155del ARL6(NM_032146.5):c.46_48delAAG (p.K16del) - ARL6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.55C>G r.(?) p.(His19Asp) - VUS g.97487006C>G g.97768162C>G ARL6(NM_032146.5):c.55C>G (p.H19D) - ARL6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 - c.68T>C r.(?) p.(Leu23Pro) ACMG likely pathogenic g.97487019T>C g.97768175T>C c.68T > C, p. (Leu23Pro) - ARL6_000056 homozygous PubMed: Jaffal 2019 - - Germline yes - - - - LOVD
+/. 1 - c.92C>G r.(?) p.(Thr31Arg) - pathogenic (recessive) g.97487043C>G - 445C>G - ARL6_000073 - PubMed: Fan 2004 - - Germline yes - - - - Johan den Dunnen
+/. 3 2 c.92C>T r.(?) p.(Thr31Met) - pathogenic, pathogenic (recessive) g.97487043C>T g.97768199C>T 445C>T, ARL6(NM_032146.5):c.92C>T (p.T31M), c.92C>T - ARL6_000030 VKGL data sharing initiative Nederland PubMed: Chen-2011, PubMed: Fan 2004 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Utrecht
+?/. 1 - c.115_122del r.(?) p.(Pro39Cysfs*28) - likely pathogenic g.97487066_97487073del - ARL6(NM_032146.5):c.115_122delCCTTCAAA (p.P39Cfs*28) - ARL6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 2i c.123+1118del53985 r.(?) p.? - VUS g.97488192del53985 - c.123+1118del53985 - ARL6_000060 - PubMed: Chen-2011 - - Germline - - - - - LOVD
+/. 1 - c.124-647_*66395del r.0? p.0? - pathogenic g.97498356_97583288del - del 97498355-97583359del - ARL6_000048 85,004 bp deletion, 5 bp microhomology PubMed: Lindstrand 2016 - - Germline - - - - - LOVD
+/. 4 3, 3i c.185+1G>A r.spl, r.spl? p.? - pathogenic g.97499065G>A g.97780221G>A ARL6(NM_032146.5):c.185+1G>A - ARL6_000001 VKGL data sharing initiative Nederland PubMed: Neveling 2012 - - CLASSIFICATION record, Germline yes - - - - Kornelia Neveling, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.186-18T>C r.(=) p.(=) - benign g.97499441T>C g.97780597T>C ARL6(NM_032146.5):c.186-18T>C - ARL6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.195T>C r.(?) p.(=) - benign g.97499468T>C g.97780624T>C - - ARL6_000074 - PubMed: Smaoui 2006 - - Germline - 1/19 families BBS - - - Johan den Dunnen
?/. 1 - c.210G>A r.(?) p.(Met70Ile) - VUS g.97499483G>A - ARL6(NM_001278293.3):c.210G>A (p.(Met70Ile)) - ARL6_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.228C>G r.(?) p.(Tyr76*) ACMG pathogenic g.97499501C>G - - - ARL6_000076 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1028925 rs2037147164 Germline yes - - - - Rocio Villafuerte-de la Cruz
-?/. 1 - c.254+14T>A r.(=) p.(=) - likely benign g.97499541T>A g.97780697T>A ARL6(NM_032146.5):c.254+14T>A - ARL6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.255-116T>C r.(=) p.(=) - benign g.97503683T>C g.97784839T>C ARL6(NM_032146.5):c.255-116T>C - ARL6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.262C>T r.(?) p.(Gln88*) - pathogenic g.97503806C>T - ARL6(NM_032146.5):c.262C>T (p.Q88*) - ARL6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.266C>T r.(?) p.(Ala89Val) - pathogenic (recessive) g.97503810C>T - 619C>T (A89V) - ARL6_000070 functional analysis PubMed: Aldahmesh 2009, PubMed: Pretorius 2011 - - Germline - - - - - Johan den Dunnen
+/., +?/., ?/. 4 5 c.272T>C r.(?) p.(Ile91Thr) - likely pathogenic, pathogenic, VUS g.97503816T>C - BBS3:p.I91T, c.272T>C - ARL6_000054 - PubMed: Chandrasekar-2018, PubMed: Sathya Priya-2015 - - Germline no, yes - - - - LOVD
+/. 8 5 c.281T>C r.(?) p.(Ile94Thr) - pathogenic, pathogenic (recessive) g.97503825T>C - 3:97503825T>C ENST00000463745.1:c.281T>C (Ile94Thr), p.Ile94Thr - ARL6_000046 - PubMed: Carss 2017, PubMed: Khan 2013 - - Germline - 300 ethnically matched control individuals - - - LOVD
+?/. 2 - c.291T>A r.(?) p.(Ser97Arg) - likely pathogenic g.97503835T>A g.97784991T>A ARL6, variant 1: c.291T>A/p.S97R, variant 2: c.528G>T/p.W176C - ARL6_000067 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - LOVD
+?/. 1 5 c.302G>T r.(?) p.(Arg101Ile) - likely pathogenic g.97503846G>T - c.302G>T - ARL6_000055 - PubMed: Sathya Priya-2015 - - Germline yes - - - - LOVD
-/. 1 - c.327C>G r.(?) p.(=) - benign g.97503871C>G g.97785027C>G - - ARL6_000075 - PubMed: Smaoui 2006 - - Germline - 1/19 families BBS - - - Johan den Dunnen
+/. 1 - c.349+2T>C r.spl? p.? - pathogenic g.97503895T>C g.97785051T>C - - ARL6_000037 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.349+36G>A r.(=) p.(=) - VUS g.97503929G>A g.97785085G>A NM_001278293.1:c.349+36G>A - ARL6_000051 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
-/., -?/. 2 - c.350-7C>T r.(=) p.(=) - benign, likely benign g.97506827C>T g.97787983C>T ARL6(NM_032146.5):c.350-7C>T - ARL6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 6 c.361C>T r.(?) p.(Arg121Cys) - likely pathogenic (recessive) g.97506845C>T - c.361C>T - ARL6_000069 - PubMed: Liu-2020 - - Germline - - - - - LOVD
+/., +?/. 4 - c.362G>A r.(?) p.(Arg121His) - likely pathogenic, pathogenic g.97506846G>A g.97788002G>A - - ARL6_000041 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Biswas 2017, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Patel 2016 - rs765715798 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
+/. 3 6 c.364C>T r.(?) p.(Arg122*) ACMG pathogenic, pathogenic (recessive) g.97506848C>T - c.364C>T - ARL6_000045 - PubMed: Chiang 2004, PubMed: Sharon 2019, PubMed: Xing-2014 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Johan den Dunnen
-/., -?/. 2 6 c.365G>A r.(?) p.(Arg122Gln) - benign, likely benign g.97506849G>A g.97788005G>A ARL6(NM_032146.5):c.365G>A (p.R122Q), BBS3:c.365G>A - ARL6_000034 VKGL data sharing initiative Nederland PubMed: Muller-2010, PubMed: Stoetzel 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC
+/. 2 - c.373dup r.(?) p.(Ile125Asnfs*7) ACMG pathogenic, pathogenic (recessive) g.97506857dup g.97788013dup 373dupA - ARL6_000038 ACMG PVS1, PM2, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen, Juan Carlos Zenteno
+?/. 5 6 c.431C>T r.(?) p.(Ser144Phe) - likely pathogenic g.97506915C>T - BBS3:c.431C>T p.(S144F) - ARL6_000061 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - LOVD
+?/. 8 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) - likely pathogenic g.97508915_97513062del - BBS3:c.480-1700_535+2392del r.(480_535del) p.(C160*), c.480-1700_535+2392del r.(480_535del) p.(C160*) - ARL6_000062 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - LOVD
-?/. 1 - c.480-1683_480-1680del r.(=) p.(=) - likely benign g.97508932_97508935del - ARL6(NM_177976.3):c.480-1683_480-1680delTGTG - ARL6_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.480-1683_480-1680dup r.(=) p.(=) - benign g.97508932_97508935dup - ARL6(NM_177976.3):c.480-1683_480-1680dupTGTG - ARL6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.480-1681_480-1680del r.(=) p.(=) - benign g.97508934_97508935del - ARL6(NM_177976.3):c.480-1681_480-1680delTG - ARL6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.480-1679_535+2387del r.(?) p.(Cys160*) - pathogenic g.97508936_97513057del - del exon8 97508904-97513012del - ARL6_000049 4,108 bp deletion, (TG)n simple repeat 41 bp homology PubMed: Lindstrand 2016 - - Germline - - - - - LOVD
-/. 1 - c.480-8C>T r.(=) p.(=) - benign g.97510607C>T g.97791763C>T ARL6(NM_032146.5):c.480-8C>T - ARL6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.481G>T r.(?) p.(Ala161Ser) - VUS g.97510616G>T - - - ARL6_000050 - PubMed: Sundaramurthy 2016 - - Germline no - - - - Johan den Dunnen
+?/. 1 - c.499G>A r.(?) p.(Gly167Arg) ACMG likely pathogenic g.97510634G>A g.97791790G>A ARL6 c.499G>A, p.(Gly167Arg) - ARL6_000066 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - LOVD
+/. 1 - c.506G>C r.(?) p.(Gly169Ala) - pathogenic (recessive) g.97510641G>C - 859G>C - ARL6_000071 - PubMed: Fan 2004 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.509T>G r.(?) p.(Leu170Trp) - pathogenic (recessive) g.97510644T>G - 862T>G - ARL6_000072 - PubMed: Fan 2004 - - Germline - - - - - Johan den Dunnen
+?/. 2 - c.528G>T r.(?) p.(Trp176Cys) - likely pathogenic g.97510663G>T g.97791819G>T ARL6, variant 1: c.291T>A/p.S97R, variant 2: c.528G>T/p.W176C - ARL6_000068 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - LOVD
+?/. 4 7 c.534A>G r.spl, r.spl? p.(Gln178=) - likely pathogenic, likely pathogenic (recessive) g.97510669A>G g.97791825A>G ARL6 c.534A>G , p=p.(Q178Q), g.38272A>G - ARL6_000026 1 more item PubMed: Maria 2016 - - Germline yes - - - - Muhammad Ajmal
?/. 1 7 c.535G>A r.(?) p.(Asp179Asn) - VUS g.97510670G>A - c.[535G>A];[=] - ARL6_000063 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - LOVD
?/. 1 7i c.535+80A>G r.(=) p.(=) - VUS g.97510750A>G - c.535+80A>G - ARL6_000064 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - - - - - LOVD
-?/. 3 - c.536-4T>C r.spl? p.? - likely benign g.97516864T>C g.97798020T>C ARL6(NM_032146.5):c.536-4T>C, ARL6(NM_177976.3):c.536-4T>C - ARL6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 3 - c.540_544dup r.(?) p.(Gln182ArgfsTer5) - VUS g.97516872_97516876dup g.97798028_97798032dup 1 more item - ARL6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
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