Full data view for gene ARL6

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.

103 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)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

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Technique     

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Disease     

ID_report     

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Consanguinity     

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VIP     

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Panel size     

Owner     
+?/. - c.(123+1_124-1)_(535+1_*3193) r.spl p.(?) Parent #1 - likely pathogenic g.? g.? ARL6, variant 1 :Deletion exon 4-9, variant 2 :Deletion exon 4-9 - OPA1_000149 error in annotation, NM_001278293.3 has only 8 exons; positions given for NM_032146.4, solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 140 PubMed: Weisschuh 2020 Filing key number: 61, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.(123+1_124-1)_(535+1_*3193) r.spl p.(?) Parent #1 - likely pathogenic g.? g.? ARL6, variant 1 :Deletion exon 4-9, variant 2 :Deletion exon 4-9 - OPA1_000149 error in annotation, NM_001278293.3 has only 8 exons; positions given for NM_032146.4, solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 140 PubMed: Weisschuh 2020 Filing key number: 61, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. _1_8_ c.-484_*486{2} r.(?) p.(?) Unknown 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 ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 470 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. 2i_8_ c.123+1118_*486{0} r.? p.? Both (homozygous) - pathogenic g.97488192_97542175del g.97769348_97823331del c.123+1118del53985 - ARL6_000027 variant description deduced from that reported PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - retinal disease 61049 PubMed: Li 2017 - M yes Pakistan Pakistani - - - - 1 James Hejtmancik
+/. _1 c.-589A>G r.(?) p.(=) Unknown - likely benign g.97483260A>G - c.-688A>G - ARL6_000052 - PubMed: M'hamdi 2014 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - 1 LOVD
+/. _1 c.-589A>G r.(?) p.(=) Unknown - likely benign g.97483260A>G - c.-688A>G - ARL6_000052 - PubMed: M'hamdi 2014 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - - - - 1 LOVD
?/. - c.-484_*16436587del r.0? p.0? Unknown 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 ? - - - - DNA ? - clinical exome sequencing retinal disease RP-3055 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+/. 1i_2i c.-28+1110_123+1del r.spl? p.? Both (homozygous) - pathogenic g.97484931_97487075del - c.[(?_-30)_(123+?))del;[(?-30)_(123+?)]del - ARL6_000059 - PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Turkey - - - - - 1 LOVD
+/. 2 c.4G>T r.(4g>u) p.(Gly2*) Both (homozygous) - 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. - - - DNA PE, arraySNP blood - retinal disease - PubMed: Pereiro-2010 - M - Spain white - - - - 1 LOVD
+/. 2 c.4G>T r.(4g>u) p.(Gly2*) Both (homozygous) - 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. - - - DNA PE, arraySNP blood - retinal disease - PubMed: Pereiro-2010 - M - Spain white - - - - 1 LOVD
-/. - c.24A>C r.(?) p.(Ser8=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.36_39dup r.(?) p.(Lys14Profs*15) Unknown ACMG pathogenic g.97486987_97486990dup g.97768143_97768146dup ARL6 c.36_39dupCCTG, p.(Lys14Profs*15) - ARL6_000065 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.046 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.46_48del r.(?) p.(Lys16del) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.55C>G r.(?) p.(His19Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.68T>C r.(?) p.(Leu23Pro) Both (homozygous) ACMG likely pathogenic g.97487019T>C g.97768175T>C c.68T > C, p. (Leu23Pro) - ARL6_000056 homozygous PubMed: Jaffal 2019 - - Germline yes - - - - DNA SEQ-NG-I blood WES retinal disease FB22: II.1 PubMed: Jaffal 2019 - M yes Lebanon - - - - - 1 LOVD
+?/. - c.68T>C r.(?) p.(Leu23Pro) Both (homozygous) ACMG likely pathogenic g.97487019T>C g.97768175T>C c.68T > C, p. (Leu23Pro) - ARL6_000056 homozygous PubMed: Jaffal 2019 - - Germline yes - - - - DNA SEQ-NG-I blood WES retinal disease FB22: II.2 PubMed: Jaffal 2019 - F yes Lebanon - - - - - 1 LOVD
+/. - c.92C>G r.(?) p.(Thr31Arg) Both (homozygous) - pathogenic (recessive) g.97487043C>G - 445C>G - ARL6_000073 - PubMed: Fan 2004 - - Germline yes - - - - DNA SEQ - - BBS PB140 PubMed: Fan 2004 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M - Ireland - - - - - 3 Johan den Dunnen
+/. - c.92C>T r.(?) p.(Thr31Met) Unknown - pathogenic g.97487043C>T g.97768199C>T ARL6(NM_032146.5):c.92C>T (p.T31M) - ARL6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.92C>T r.(?) p.(Thr31Met) Both (homozygous) - pathogenic g.97487043C>T - c.92C>T - ARL6_000030 - PubMed: Chen-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - Arabic - - - - 1 LOVD
+/. - c.92C>T r.(?) p.(Thr31Met) Both (homozygous) - pathogenic (recessive) g.97487043C>T - 445C>T - ARL6_000030 - PubMed: Fan 2004 - - Germline yes - - - - DNA SEQ - - BBS KK29 PubMed: Fan 2004 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - 2 Johan den Dunnen
+?/. - c.115_122del r.(?) p.(Pro39Cysfs*28) Unknown - likely pathogenic g.97487066_97487073del - ARL6(NM_032146.5):c.115_122delCCTTCAAA (p.P39Cfs*28) - ARL6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.123+1118del53985 r.(?) p.? Both (homozygous) - VUS g.97488192del53985 - c.123+1118del53985 - ARL6_000060 - PubMed: Chen-2011 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2011 - - - - Pakistani - - - - 1 LOVD
+/. - c.124-647_*66395del r.0? p.0? Both (homozygous) - pathogenic g.97498356_97583288del - del 97498355-97583359del - ARL6_000048 85,004 bp deletion, 5 bp microhomology PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS DM034-004 PubMed: Lindstrand 2016 - M no United States - - - - - 1 LOVD
+/. 3i c.185+1G>A r.spl p.? Parent #1 - pathogenic g.97499065G>A g.97780221G>A - - ARL6_000001 - PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+/. 3 c.185+1G>A r.spl p.? Parent #2 - pathogenic g.97499065G>A g.97780221G>A - - ARL6_000001 - PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+/. - c.185+1G>A r.spl? p.? Unknown - pathogenic g.97499065G>A g.97780221G>A ARL6(NM_032146.5):c.185+1G>A - ARL6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.185+1G>A r.spl? p.? Unknown - pathogenic g.97499065G>A g.97780221G>A ARL6(NM_032146.5):c.185+1G>A - ARL6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186-18T>C r.(=) p.(=) Unknown - benign g.97499441T>C g.97780597T>C ARL6(NM_032146.5):c.186-18T>C - ARL6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195T>C r.(?) p.(=) Unknown - benign g.97499468T>C g.97780624T>C - - ARL6_000074 - PubMed: Smaoui 2006 - - Germline - 1/19 families BBS - - - DNA SEQ - - BBS - PubMed: Smaoui 2006 - - yes Tunisia - - - - - 1 Johan den Dunnen
?/. - c.210G>A r.(?) p.(Met70Ile) Unknown - VUS g.97499483G>A - ARL6(NM_001278293.3):c.210G>A (p.(Met70Ile)) - ARL6_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.228C>G r.(?) p.(Tyr76*) Both (homozygous) ACMG pathogenic g.97499501C>G - - - ARL6_000076 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1028925 rs2037147164 Germline yes - - - - RNA SEQ-NG-I Buccal swab - BBS3 2694959 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F yes Mexico Hispanic - - - None 1 Rocio Villafuerte-de la Cruz
-?/. - c.254+14T>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.255-116T>C r.(=) p.(=) Unknown - benign g.97503683T>C g.97784839T>C ARL6(NM_032146.5):c.255-116T>C - ARL6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.262C>T r.(?) p.(Gln88*) Unknown - pathogenic g.97503806C>T - ARL6(NM_032146.5):c.262C>T (p.Q88*) - ARL6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.266C>T r.(?) p.(Ala89Val) Both (homozygous) - pathogenic (recessive) g.97503810C>T - 619C>T (A89V) - ARL6_000070 functional analysis PubMed: Aldahmesh 2009, PubMed: Pretorius 2011 - - Germline - - - - - DNA arraySNP, SEQ - - retinal disease DGU-F15 PubMed: Aldahmesh 2009 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. 5 c.272T>C r.(?) p.(Ile91Thr) Both (homozygous) - likely pathogenic g.97503816T>C - c.272T>C - ARL6_000054 - PubMed: Sathya Priya-2015 - - Germline yes - - - - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - - - - 1 LOVD
+?/. 5 c.272T>C r.(?) p.(Ile91Thr) Both (homozygous) - likely pathogenic g.97503816T>C - c.272T>C - ARL6_000054 - PubMed: Sathya Priya-2015 - - Germline yes - - - - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - - - - 1 LOVD
?/. 5 c.272T>C r.(?) p.(Ile91Thr) Both (homozygous) - VUS g.97503816T>C - c.272T>C - ARL6_000054 - PubMed: Sathya Priya-2015 - - Germline no - - - - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - - - - 1 LOVD
+/. 5 c.272T>C r.(?) p.(Ile91Thr) Unknown - pathogenic g.97503816T>C - BBS3:p.I91T - ARL6_000054 - PubMed: Chandrasekar-2018 - - Germline - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Chandrasekar-2018 These mutations segregated with the disease and the parents were heterozygous for the same - - India Indian - - - - 1 LOVD
+/. - c.281T>C r.(?) p.(Ile94Thr) Both (homozygous) - pathogenic (recessive) g.97503825T>C - 3:97503825T>C ENST00000463745.1:c.281T>C (Ile94Thr) - ARL6_000046 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240028 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 5 c.281T>C r.(?) p.(Ile94Thr) Both (homozygous) - pathogenic g.97503825T>C - p.Ile94Thr - ARL6_000046 - PubMed: Khan 2013 - - Germline - 300 ethnically matched control individuals - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa F yes Pakistan - - - - - 1 LOVD
+/. 5 c.281T>C r.(?) p.(Ile94Thr) Both (homozygous) - pathogenic g.97503825T>C - p.Ile94Thr - ARL6_000046 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa F yes Pakistan - - - - - 1 LOVD
+/. 5 c.281T>C r.(?) p.(Ile94Thr) Both (homozygous) - pathogenic g.97503825T>C - p.Ile94Thr - ARL6_000046 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa M yes Pakistan - - - - - 1 LOVD
+/. 5 c.281T>C r.(?) p.(Ile94Thr) Both (homozygous) - pathogenic g.97503825T>C - p.Ile94Thr - ARL6_000046 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa M yes Pakistan - - - - - 1 LOVD
+/. 5 c.281T>C r.(?) p.(Ile94Thr) Both (homozygous) - pathogenic g.97503825T>C - p.Ile94Thr - ARL6_000046 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa M yes Pakistan - - - - - 1 LOVD
+/. 5 c.281T>C r.(?) p.(Ile94Thr) Both (homozygous) - pathogenic g.97503825T>C - p.Ile94Thr - ARL6_000046 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa F yes Pakistan - - - - - 1 LOVD
+/. 5 c.281T>C r.(?) p.(Ile94Thr) Both (homozygous) - pathogenic g.97503825T>C - p.Ile94Thr - ARL6_000046 - PubMed: Khan 2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Khan-2013 Retinitis pigmentosa M yes Pakistan - - - - - 1 LOVD
+?/. - c.291T>A r.(?) p.(Ser97Arg) Parent #1 - 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 - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 87 PubMed: Weisschuh 2020 Filing key number: 44, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.291T>A r.(?) p.(Ser97Arg) Parent #1 - 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 - - - - DNA SEQ blood Sanger sequencing retinal disease 88 PubMed: Weisschuh 2020 Filing key number: 44, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 5 c.302G>T r.(?) p.(Arg101Ile) Both (homozygous) - likely pathogenic g.97503846G>T - c.302G>T - ARL6_000055 - PubMed: Sathya Priya-2015 - - Germline yes - - - - DNA, RNA arraySNP, PCR blood - retinal disease - PubMed: Sathya Priya-2015 - - - - - - - - - 1 LOVD
-/. - c.327C>G r.(?) p.(=) Unknown - benign g.97503871C>G g.97785027C>G - - ARL6_000075 - PubMed: Smaoui 2006 - - Germline - 1/19 families BBS - - - DNA SEQ - - BBS - PubMed: Smaoui 2006 - - yes Tunisia - - - - - 1 Johan den Dunnen
+/. - c.349+2T>C r.spl? p.? Unknown - pathogenic g.97503895T>C g.97785051T>C - - ARL6_000037 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.349+36G>A r.(=) p.(=) Unknown - VUS g.97503929G>A g.97785085G>A NM_001278293.1:c.349+36G>A - ARL6_000051 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case72007 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
-/. - c.350-7C>T r.(=) p.(=) Unknown - benign g.97506827C>T g.97787983C>T ARL6(NM_032146.5):c.350-7C>T - ARL6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350-7C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.361C>T r.(?) p.(Arg121Cys) Both (homozygous) - likely pathogenic (recessive) g.97506845C>T - c.361C>T - ARL6_000069 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.362G>A r.(?) p.(Arg121His) Unknown - likely pathogenic g.97506846G>A g.97788002G>A - - ARL6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.362G>A r.(?) p.(Arg121His) Parent #1 - likely pathogenic g.97506846G>A g.97788002G>A - - ARL6_000041 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs765715798 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.362G>A r.(?) p.(Arg121His) Both (homozygous) - pathogenic g.97506846G>A g.97788002G>A - - ARL6_000041 - PubMed: Biswas 2017 - rs765715798 Germline - - - - - DNA SEQ-NG - WES retinal disease RF.S.0711 PubMed: Biswas 2017 - - - Iraq - - - - - 1 LOVD
+?/. - c.362G>A r.(?) p.(Arg121His) Unknown - likely pathogenic g.97506846G>A g.97788002G>A - - ARL6_000041 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG2051 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.364C>T r.(?) p.(Arg122*) Unknown ACMG pathogenic g.97506848C>T - - - ARL6_000045 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 6 c.364C>T r.(?) p.(Arg122*) Both (homozygous) - pathogenic g.97506848C>T - c.364C>T - ARL6_000045 - PubMed: Xing-2014 - - Germline - - - - - DNA SEQ-NG - TES retinal disease FJ042-II:6 PubMed: Xing-2014 - - - - - - - - - 1 LOVD
+/. - c.364C>T r.(?) p.(Arg122*) Both (homozygous) - pathogenic (recessive) g.97506848C>T - - - ARL6_000045 - PubMed: Chiang 2004 - - Germline - - - - - DNA arraySNP, SEQ - - BBS family PubMed: Chiang 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Israel Bedouin - - - - 1 Johan den Dunnen
-/. - c.365G>A r.(?) p.(Arg122Gln) Unknown - benign g.97506849G>A g.97788005G>A ARL6(NM_032146.5):c.365G>A (p.R122Q) - ARL6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.365G>A r.(?) p.(Arg122Gln) Unknown - likely benign g.97506849G>A - BBS3:c.365G>A - ARL6_000034 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - North Africa - - - - 1 LOVD
+/. - c.373dup r.(?) p.(Ile125Asnfs*7) Both (homozygous) - pathogenic (recessive) g.97506857dup g.97788013dup - - ARL6_000038 - - - - Germline - - - - - DNA SEQ-NG-I blood - RD - - - M - Mexico - - - - - 1 Juan Carlos Zenteno
+/. - c.373dup r.(?) p.(Ile125Asnfs*7) Both (homozygous) ACMG pathogenic g.97506857dup g.97788013dup 373dupA - ARL6_000038 ACMG PVS1, PM2, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 1521 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+?/. 6 c.431C>T r.(?) p.(Ser144Phe) Both (homozygous) - 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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6 c.431C>T r.(?) p.(Ser144Phe) Both (homozygous) - 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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6 c.431C>T r.(?) p.(Ser144Phe) Both (homozygous) - 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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6 c.431C>T r.(?) p.(Ser144Phe) Both (homozygous) - 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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6 c.431C>T r.(?) p.(Ser144Phe) Both (homozygous) - 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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) Both (homozygous) - likely pathogenic g.97508915_97513062del - BBS3: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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) Both (homozygous) - likely pathogenic g.97508915_97513062del - BBS3: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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) Both (homozygous) - likely pathogenic g.97508915_97513062del - BBS3: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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) Both (homozygous) - likely pathogenic g.97508915_97513062del - BBS3: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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) Both (homozygous) - likely pathogenic g.97508915_97513062del - BBS3: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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) Both (homozygous) - likely pathogenic g.97508915_97513062del - 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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) Both (homozygous) - likely pathogenic g.97508915_97513062del - 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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 6i_7i c.480-1700_535+2392del r.(?) p.(Cys160*) Both (homozygous) - likely pathogenic g.97508915_97513062del - 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 - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
-?/. - c.480-1683_480-1680del r.(=) p.(=) Unknown - likely benign g.97508932_97508935del - ARL6(NM_177976.3):c.480-1683_480-1680delTGTG - ARL6_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480-1683_480-1680dup r.(=) p.(=) Unknown - benign g.97508932_97508935dup - ARL6(NM_177976.3):c.480-1683_480-1680dupTGTG - ARL6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480-1681_480-1680del r.(=) p.(=) Unknown - benign g.97508934_97508935del - ARL6(NM_177976.3):c.480-1681_480-1680delTG - ARL6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.480-1679_535+2387del r.(?) p.(Cys160*) Both (homozygous) - 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 - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS KK11-04 PubMed: Lindstrand 2016 - M yes United States - - - - - 1 LOVD
-/. - c.480-8C>T r.(=) p.(=) Unknown - benign g.97510607C>T g.97791763C>T ARL6(NM_032146.5):c.480-8C>T - ARL6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481G>T r.(?) p.(Ala161Ser) Paternal (confirmed) - VUS g.97510616G>T - - - ARL6_000050 - PubMed: Sundaramurthy 2016 - - Germline no - - - - DNA SEQ - - retinal disease Fam03 PubMed: Sundaramurthy 2016 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes India - - - - - 1 Johan den Dunnen
+?/. - c.499G>A r.(?) p.(Gly167Arg) Unknown ACMG likely pathogenic g.97510634G>A g.97791790G>A ARL6 c.499G>A, p.(Gly167Arg) - ARL6_000066 heterozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.046 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+/. - c.506G>C r.(?) p.(Gly169Ala) Both (homozygous) - pathogenic (recessive) g.97510641G>C - 859G>C - ARL6_000071 - PubMed: Fan 2004 - - Germline yes - - - - DNA arraySNP, SEQ - - BBS NF-B2 PubMed: Fan 2004 3-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Canada Newfoundland - - - - 5 Johan den Dunnen
+/. - c.509T>G r.(?) p.(Leu170Trp) Both (homozygous) - pathogenic (recessive) g.97510644T>G - 862T>G - ARL6_000072 - PubMed: Fan 2004 - - Germline - - - - - DNA SEQ - - BBS AR390 PubMed: Fan 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+?/. - c.528G>T r.(?) p.(Trp176Cys) Parent #1 - 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 - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 87 PubMed: Weisschuh 2020 Filing key number: 44, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.528G>T r.(?) p.(Trp176Cys) Parent #1 - 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 - - - - DNA SEQ blood Sanger sequencing retinal disease 88 PubMed: Weisschuh 2020 Filing key number: 44, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 7 c.534A>G r.spl? p.(Gln178=) Both (homozygous) - likely pathogenic g.97510669A>G g.97791825A>G g.38272A>G - ARL6_000026 - - - - Germline yes - - - - DNA SEQ - - BBS - - - M yes Pakistan - - - - - 1 Muhammad Ajmal
+?/. 7 c.534A>G r.spl? p.(Gln178=) Both (homozygous) - likely pathogenic g.97510669A>G g.97791825A>G g.38272A>G - ARL6_000026 - - - - Germline yes - - - - DNA SEQ, SEQ-NG - - BBS - - - M yes Pakistan - - - - - 1 Muhammad Ajmal
+?/. - c.534A>G r.spl p.(Gln178=) Both (homozygous) - likely pathogenic (recessive) g.97510669A>G g.97791825A>G ARL6 c.534A>G , p=p.(Q178Q) - ARL6_000026 homozygous; aberrant splicing confirmed; exon 8 of ARL6 skipped resulting in a frameshift that causes a premature stop codon at position 160 (p.(C160*)) PubMed: Maria 2016 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood targeted mutation screening, targated exome sequencing of BBS genes, whole exome sequencing retinal disease F01_IV:2 PubMed: Maria 2016 family F01 M yes - Pakistani 35y - - - 1 LOVD
+?/. - c.534A>G r.spl p.(Gln178=) Both (homozygous) - likely pathogenic (recessive) g.97510669A>G g.97791825A>G ARL6 c.534A>G , p=p.(Q178Q) - ARL6_000026 homozygous; aberrant splicing confirmed; exon 8 of ARL6 skipped resulting in a frameshift that causes a premature stop codon at position 160 (p.(C160*)) PubMed: Maria 2016 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood targeted mutation screening, targated exome sequencing of BBS genes, whole exome sequencing retinal disease F01_IV:3 PubMed: Maria 2016 family F01 M yes - Pakistani - - - - 1 LOVD
?/. 7 c.535G>A r.(?) p.(Asp179Asn) Unknown - VUS g.97510670G>A - c.[535G>A];[=] - ARL6_000063 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Reunion - - - - - 1 LOVD
?/. 7i c.535+80A>G r.(=) p.(=) Unknown - VUS g.97510750A>G - c.535+80A>G - ARL6_000064 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - - - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
-?/. - c.536-4T>C r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536-4T>C r.spl? p.? Unknown - likely benign g.97516864T>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536-4T>C r.spl? p.? Unknown - likely benign g.97516864T>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 - - - - - - - - - - - - - - - - - - - - - - -
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