Full data view for gene AGBL5

Information The variants shown are described using the NM_021831.5 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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?/. - c.-3A>G r.(=) p.(=) Unknown - VUS g.27275824A>G g.27052956A>G - - AGBL5_000003 - 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.48A>G r.(?) p.(Ser16=) Unknown - likely benign g.27275874A>G g.27053006A>G AGBL5(NM_021831.5):c.48A>G (p.S16=) - AGBL5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63C>T r.(?) p.(His21=) Unknown - likely benign g.27275889C>T - AGBL5(NM_021831.5):c.63C>T (p.H21=) - AGBL5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.78A>C r.(?) p.(Glu26Asp) Unknown - VUS g.27275904A>C g.27053036A>C AGBL5(NM_021831.5):c.78A>C (p.E26D) - AGBL5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.93T>A r.(?) p.(Asp31Glu) Unknown - VUS g.27275919T>A g.27053051T>A - - AGBL5_000004 - 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.194C>T r.(?) p.(Thr65Met) Unknown - VUS g.27276020C>T g.27053152C>T - - AGBL5_000005 - 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.215+4T>C r.spl? p.? Unknown - VUS g.27276045T>C g.27053177T>C - - AGBL5_000006 - 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.215+11C>T r.(=) p.(=) Unknown - likely benign g.27276052C>T - AGBL5(NM_021831.6):c.215+11C>T - AGBL5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.215+20G>A r.(=) p.(=) Unknown - likely benign g.27276061G>A - AGBL5(NM_021831.6):c.215+20G>A - AGBL5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239G>A r.(?) p.(Arg80Gln) Unknown - VUS g.27276293G>A g.27053425G>A AGBL5(NM_021831.5):c.239G>A (p.R80Q) - AGBL5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.313_319del r.(?) p.(Gly105Profs*24) Both (homozygous) - likely pathogenic g.27276367_27276373del g.27053499_27053505del AGBL5 c.313_319del p.(Gly105Profs*24) - AGBL5_000050 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 18 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+/. - c.323C>G r.(?) p.(Pro108Arg) Unknown - pathogenic g.27276377C>G g.27053509C>G AGBL5 c.323C>G, p.Pro108Arg - AGBL5_000051 homozygous PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 7 PubMed: Bell 2021 - F yes (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.323C>G r.(?) p.(Pro108Arg) Both (homozygous) - likely pathogenic g.27276377C>G g.27053509C>G AGBL5 c.[323C>G;c.2659T>C]: p.[(Pro108Arg);(*887Argext*1)] - AGBL5_000051 homozygous PubMed: Astuti 2016 - - Germline yes - - - - DNA SEQ-NG-I blood Whole-exome sequencing Illumina retinal disease F2-II:1 PubMed: Astuti 2016 Family 2, individual II:1 F - - - - - - - 1 LOVD
+?/. - c.323C>G r.(?) p.(Pro108Arg) Both (homozygous) - likely pathogenic g.27276377C>G g.27053509C>G AGBL5 c.[323C>G;c.2659T>C]: p.[(Pro108Arg);(*887Argext*1)] - AGBL5_000051 homozygous PubMed: Astuti 2016 - - Germline yes - - - - DNA SEQ-NG-I blood Whole-exome sequencing Illumina retinal disease F2-II:3 PubMed: Astuti 2016 Family 2, individual II:3 F - - - - - - - 1 LOVD
+?/. - c.388-2A>G r.spl? p.? Unknown - likely pathogenic g.27276762A>G g.27053894A>G - - AGBL5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>A r.(?) p.(Thr133=) Unknown - likely benign g.27276775G>A g.27053907G>A AGBL5(NM_021831.5):c.399G>A (p.T133=) - AGBL5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.430G>A r.(?) p.(Val144Met) Unknown - VUS g.27276806G>A g.27053938G>A - - AGBL5_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3739090 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.520C>T r.(?) p.(Arg174Cys) Unknown - VUS g.27276896C>T g.27054028C>T - - AGBL5_000008 - 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.528G>A r.(?) p.(Pro176=) Unknown - likely benign g.27276904G>A - AGBL5(NM_021831.5):c.528G>A (p.P176=) - AGBL5_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650G>A r.(?) p.(Arg217Gln) Unknown - VUS g.27277596G>A g.27054728G>A - - AGBL5_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs541509761 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
?/. - c.678G>C r.(?) p.(Gln226His) Unknown - VUS g.27277624G>C g.27054756G>C - - AGBL5_000010 - 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.752T>G r.(?) p.(Val251Gly) Unknown - likely pathogenic g.27277965T>G g.27055097T>G AGBL5 c.752T>G, p.Val251Gly - AGBL5_000048 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007663 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.752T>G r.(?) p.(Val251Gly) Both (homozygous) - likely pathogenic g.27277965T>G g.27055097T>G AGBL5 c.841C>T c.752T>G: p.(Val251Gly) - AGBL5_000048 homozygous PubMed: Astuti 2016 - - Germline yes - - - - DNA SEQ-NG-I blood Whole-exome sequencing Illumina retinal disease F3-II:1 PubMed: Astuti 2016 Family 3, individual II:1 F - - - - - - - 1 LOVD
+?/. - c.826C>T r.(?) p.(Arg276Trp) Both (homozygous) - likely pathogenic (recessive) g.27278039C>T - - - AGBL5_000044 - PubMed: Patel 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease 12DG0507 PubMed: Patel 2016 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M - - - - - - - 3 Johan den Dunnen
+?/. 6 c.841C>T r.(?) p.(Arg281Cys) Paternal (confirmed) - likely pathogenic g.27278054C>T g.27055186C>T AGBL5 c.841C>T (p.Arg281Cys: rs780394281) - AGBL5_000052 heterozygous PubMed: Branham 2016 - - Germline yes - - - - DNA ? blood whole genome sequencing retinal disease II:3 PubMed: Branham 2016 - F - - - - - - - 1 LOVD
+?/. 6 c.841C>T r.(?) p.(Arg281Cys) Paternal (confirmed) - likely pathogenic g.27278054C>T g.27055186C>T AGBL5 c.841C>T (p.Arg281Cys: rs780394281) - AGBL5_000052 heterozygous PubMed: Branham 2016 - - Germline yes - - - - DNA ? blood whole genome sequencing retinal disease II:2 PubMed: Branham 2016 - M - - - - - - - 1 LOVD
?/. - c.842G>A r.(?) p.(Arg281His) Unknown - VUS g.27278055G>A - - - AGBL5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.875T>C r.(?) p.(Leu292Ser) Unknown - VUS g.27278088T>C g.27055220T>C - - AGBL5_000011 - 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.883G>A r.(?) p.(Asp295Asn) Both (homozygous) - pathogenic (recessive) g.27278096G>A g.27055228G>A - - AGBL5_000038 - PubMed: Kastner 2015 - - Germline yes - - - - DNA SEQ - - retinal disease FamE PubMed: Kastner 2015 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents - yes Turkey - - - - - 3 Johan den Dunnen
?/. - c.961G>A r.(?) p.(Val321Ile) Unknown - VUS g.27278602G>A g.27055734G>A - - AGBL5_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs755544280 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.969C>A r.(?) p.(His323Gln) Unknown - VUS g.27278610C>A g.27055742C>A - - AGBL5_000013 - 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.1022G>A r.(?) p.(Arg341His) Unknown - VUS g.27278663G>A g.27055795G>A - - AGBL5_000014 - 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.1047G>C r.(?) p.(Glu349Asp) Unknown - VUS g.27278688G>C g.27055820G>C - - AGBL5_000015 - 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.1229C>T r.(?) p.(Ala410Val) Unknown - VUS g.27278870C>T g.27056002C>T - - AGBL5_000016 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs772072440 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+?/. - c.1255dup r.(?) p.(Thr419Asnfs*32) Both (homozygous) - likely pathogenic g.27278896dup g.27056028dup Allele 1 c.1255dup (p.Thr419Asnfs*32), Allele 2 c.1255dup (p.Thr419Asnfs*32) - AGBL5_000045 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
?/. - c.1265C>G r.(?) p.(Pro422Arg) Unknown - VUS g.27278906C>G g.27056038C>G AGBL5(NM_021831.5):c.1265C>G (p.P422R) - AGBL5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1265C>G r.(?) p.(Pro422Arg) Unknown - VUS g.27278906C>G g.27056038C>G - - AGBL5_000002 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs140111286 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
?/. - c.1265C>G r.(?) p.(Pro422Arg) Unknown - VUS g.27278906C>G - AGBL5(NM_021831.5):c.1265C>G (p.P422R) - AGBL5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1406C>G r.(?) p.(Ser469*) Unknown ACMG likely pathogenic g.27056663C>G g.27056663C>G AGBL5 c.1406C > G, p.Ser469Ter, heterozygous - AGBL5_000046 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 7 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.1459C>T r.(?) p.(Arg487*) Maternal (inferred) - likely pathogenic g.27279584C>T g.27056716C>T AGBL5 c.1459C>T (p.Arg487*; rs749698218) - AGBL5_000053 heterozygous PubMed: Branham 2016 - - Germline yes - - - - DNA ? blood whole genome sequencing retinal disease II:3 PubMed: Branham 2016 - F - - - - - - - 1 LOVD
+?/. - c.1459C>T r.(?) p.(Arg487*) Maternal (inferred) - likely pathogenic g.27279584C>T g.27056716C>T AGBL5 c.1459C>T (p.Arg487*; rs749698218) - AGBL5_000053 heterozygous PubMed: Branham 2016 - - Germline yes - - - - DNA ? blood whole genome sequencing retinal disease II:2 PubMed: Branham 2016 - M - - - - - - - 1 LOVD
?/. - c.1460G>A r.(?) p.(Arg487Gln) Unknown - VUS g.27279585G>A g.27056717G>A - - AGBL5_000017 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs771255981 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
?/. 8 c.1498C>T r.(?) p.(Arg500Cys) Unknown ACMG VUS g.27056755C>T g.27056755C>T AGBL5 c.1498C > T, p.Arg500Cys, heterozygous - AGBL5_000047 - PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 7 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.1504dup r.(?) p.(Ala502Glyfs*15) Unknown - likely pathogenic g.27279629dup g.27056761dup AGBL5 c.1504dupG, p.Ala502GlyfsTer15 - AGBL5_000049 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007663 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1504dupG r.(?) p.(Ala502Glyfs*15) Both (homozygous) - likely pathogenic g.27279629dup g.27056761dup AGBL5 c.1504dupG: p.(Ala502Glyfs*15) - AGBL5_000049 homozygous PubMed: Astuti 2016 - - Germline yes - - - - DNA SEQ-NG-I blood Whole-exome sequencing Illumina retinal disease F3-II:1 PubMed: Astuti 2016 Family 3, individual II:1 F - - - - - - - 1 LOVD
?/. - c.1511A>G r.(?) p.(Tyr504Cys) Unknown - VUS g.27279636A>G g.27056768A>G - - AGBL5_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.1610G>A r.(?) p.(Arg537His) Unknown - VUS g.27280245G>A g.27057377G>A - - AGBL5_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs746607000 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.1618C>T r.(?) p.(Pro540Ser) Unknown - VUS g.27280253C>T g.27057385C>T - - AGBL5_000020 - 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.1628C>T r.(?) p.(Pro543Leu) Unknown - VUS g.27280263C>T g.27057395C>T - - AGBL5_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs747328031 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.1678C>A r.(?) p.(Arg560=) Unknown - likely benign g.27281274C>A - AGBL5(NM_021831.5):c.1678C>A (p.R560=) - AGBL5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1722G>A r.(?) p.(Pro574=) Unknown - likely benign g.27281318G>A - AGBL5(NM_021831.5):c.1722G>A (p.P574=) - AGBL5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1775G>A r.(?) p.(Trp592*) Both (homozygous) - likely pathogenic g.27281371G>A g.27058503G>A AGBL5 c.1775G>A: p.(Trp592*) - AGBL5_000054 homozygous PubMed: Astuti 2016 - - Germline yes - - - - DNA SEQ-NG-S blood Whole-exome sequencing SOLiD4 retinal disease F1-IV:3 PubMed: Astuti 2016 Family 1, individual IV:3 M - - - - - - - 1 LOVD
+/. - c.1787_1788del r.(?) p.(His596Argfs*47) Unknown ACMG pathogenic g.27281383_27281384del - - - AGBL5_000041 - 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
+?/. - c.1787_1788del r.(?) p.(His596Argfs*47) Both (homozygous) - likely pathogenic g.27281383_27281384del g.27058515_27058516del c.1787_1788del, p.(His596Argfs*47) - AGBL5_000041 homozygous PubMed: Abu Diab 2019 - - Germline yes - - - - DNA SEQ-NG, arraySNP, SEQ blood whole exome sequencing, SNP array homozygosity mapping retinal disease MOL1514 III:4 PubMed: Abu Diab 2019 Mixed Arabic Muslim and Christian descent F yes Israel - - - - - 1 LOVD
?/. - c.1960_1962del r.(?) p.(Ser654del) Unknown - VUS g.27282143_27282145del g.27059275_27059277del - - AGBL5_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs762963806 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.1981A>G r.(?) p.(Met661Val) Unknown - likely benign g.27282164A>G g.27059296A>G AGBL5(NM_021831.5):c.1981A>G (p.M661V) - AGBL5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2083G>A r.(?) p.(Val695Ile) Unknown - likely benign g.27282266G>A g.27059398G>A AGBL5(NM_021831.5):c.2083G>A (p.V695I) - AGBL5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2090-7del r.(=) p.(=) Unknown - likely benign g.27290355del g.27067487del AGBL5(NM_021831.5):c.2090-7delC - AGBL5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2090-3dup r.spl? p.? Unknown - VUS g.27290359dup g.27067491dup - - AGBL5_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-?/. - c.2121G>A r.(?) p.(Gln707=) Unknown - likely benign g.27290393G>A - AGBL5(NM_021831.6):c.2121G>A (p.Q707=) - AGBL5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2138G>A r.(?) p.(Arg713His) Unknown - VUS g.27290410G>A g.27067542G>A - - AGBL5_000024 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs545834161 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.2243-4C>T r.spl? p.? Unknown - VUS g.27291496C>T g.27068628C>T - - AGBL5_000025 - 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.2374C>T r.(?) p.(Arg792Trp) Unknown - VUS g.27292459C>T g.27069591C>T - - AGBL5_000026 - 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.2435C>T r.(?) p.(Pro812Leu) Unknown - VUS g.27292520C>T - AGBL5(NM_021831.5):c.2435C>T (p.P812L) - AGBL5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2438G>A r.(?) p.(Arg813Gln) Unknown - VUS g.27292523G>A g.27069655G>A - - AGBL5_000027 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs183748586 Germline - 9/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 9 Yoshito Koyanagi
?/. - c.2500G>T r.(?) p.(Ala834Ser) Unknown ACMG VUS g.27292970G>T g.27070102G>T AGBL5 c.2500G>T, p.(Ala834Ser) - AGBL5_000062 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 48_57 PubMed: Zhu 2022 family 48, individual 57 F - - - - - - - 1 LOVD
-?/. - c.2556A>G r.(?) p.(Leu852=) Unknown - likely benign g.27293026A>G g.27070158A>G AGBL5(NM_021831.5):c.2556A>G (p.L852=) - AGBL5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2567C>T r.(?) p.(Pro856Leu) Unknown - VUS g.27293037C>T g.27070169C>T - - AGBL5_000028 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
?/. - c.2627A>T r.(?) p.(Lys876Ile) Unknown - VUS g.27293097A>T g.27070229A>T - - AGBL5_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs759707734 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.2654G>A r.(?) p.(Arg885Gln) Unknown - VUS g.27293124G>A g.27070256G>A - - AGBL5_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs754208479 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.2659T>C r.(?) p.(*887Argext*1) Both (homozygous) - likely pathogenic g.27293129T>C g.27070261T>C AGBL5 c.[323C>G;c.2659T>C]: p.[(Pro108Arg);(*887Argext*1)] - AGBL5_000055 homozygous PubMed: Astuti 2016 - - Germline yes - - - - DNA SEQ-NG-I blood Whole-exome sequencing Illumina retinal disease F2-II:1 PubMed: Astuti 2016 Family 2, individual II:1 F - - - - - - - 1 LOVD
+?/. - c.2659T>C r.(?) p.(*887Argext*1) Both (homozygous) - likely pathogenic g.27293129T>C g.27070261T>C AGBL5 c.[323C>G;c.2659T>C]: p.[(Pro108Arg);(*887Argext*1)] - AGBL5_000055 homozygous PubMed: Astuti 2016 - - Germline yes - - - - DNA SEQ-NG-I blood Whole-exome sequencing Illumina retinal disease F2-II:3 PubMed: Astuti 2016 Family 2, individual II:3 F - - - - - - - 1 LOVD
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