Full data view for gene AHI1

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

516 entries on 6 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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-378G>T r.(?) p.(=) Unknown - benign g.135818897C>A g.135497759C>A - - AHI1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-54-6C>T r.(=) p.(=) Unknown - likely benign g.135813435G>A g.135492297G>A AHI1(NM_001134831.1):c.-54-6C>T - AHI1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-30C>A r.(?) p.(=) Unknown - VUS g.135813405G>T g.135492267G>T AHI1(NM_001134831.2):c.-30C>A - AHI1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - del ex19 - LAMA2_000000 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW253-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - del ex19 - LAMA2_000000 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW253-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. 7 c.? r.(?) p.? Unknown - pathogenic g.135787184T>A - 517A>T - LAMA2_000000 - PubMed: Parisi-2006 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Parisi-2006 - F no - white - - - - 1 LOVD
+/. 18 c.? r.(?) p.? Unknown - pathogenic g.135751060A>G - 2452 T>C - LAMA2_000000 - PubMed: Parisi-2006 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Parisi-2006 - F no - white - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - AHI1/JBTS3:p.[R830W];[=] - LAMA2_000000 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - AHI1/JBTS3:p.[R830W];[=] - LAMA2_000000 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
+?/. - c.? r.0? p.0? Both (homozygous) - likely pathogenic g.135759007_135762232del - chr6:g.135759007_135762232del - LAMA2_000000 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005496 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.10+2T>C r.spl? p.? Unknown - VUS g.135813364A>G - AHI1(NM_017651.5):c.10+2T>C - AHI1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.72T>C r.(?) p.(Ser24=) Unknown - benign g.135811824A>G g.135490686A>G AHI1(NM_001134831.2):c.72T>C (p.S24=), AHI1(NM_001350503.1):c.72T>C (p.S24=) - AHI1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72T>C r.(?) p.(Ser24=) Unknown - likely benign g.135811824A>G - AHI1(NM_001134831.2):c.72T>C (p.S24=), AHI1(NM_001350503.1):c.72T>C (p.S24=) - AHI1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.72_85del r.(?) p.(Ser24Argfs*13) Unknown - pathogenic g.135811812_135811825del - AHI1(NM_017651.5):c.72_85delTGATCTAATGCGTG (p.S24Rfs*13) - AHI1_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82C>T r.(?) p.(Arg28Cys) Unknown - likely benign g.135811814G>A - AHI1(NM_017651.4):c.82C>T (p.R28C) - AHI1_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.96dup r.(?) p.(Leu33ThrfsTer9) Unknown - pathogenic g.135811805dup g.135490667dup AHI1(NM_001134831.2):c.96dupA (p.L33Tfs*9), AHI1(NM_017651.5):c.96dupA (p.L33Tfs*9) - AHI1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.96dup r.(?) p.(Leu33ThrfsTer9) Unknown - pathogenic g.135811805dup - AHI1(NM_001134831.2):c.96dupA (p.L33Tfs*9), AHI1(NM_017651.5):c.96dupA (p.L33Tfs*9) - AHI1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108A>G r.(?) p.(Lys36=) Unknown - likely benign g.135811788T>C g.135490650T>C AHI1(NM_001350503.2):c.108A>G (p.K36=) - AHI1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.136-2A>G r.spl? p.? Unknown - likely pathogenic g.135788774T>C - AHI1(NM_001350503.1):c.136-2A>G - AHI1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.178A>G r.(?) p.(Thr60Ala) Unknown - likely benign g.135788730T>C - AHI1(NM_001350503.2):c.178A>G (p.T60A), AHI1(NM_017651.4):c.178A>G (p.T60A) - AHI1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.178A>G r.(?) p.(Thr60Ala) Unknown - likely benign g.135788730T>C - AHI1(NM_001350503.2):c.178A>G (p.T60A), AHI1(NM_017651.4):c.178A>G (p.T60A) - AHI1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189+12T>C r.(=) p.(=) Unknown - likely benign g.135788707A>G g.135467569A>G AHI1(NM_001134831.2):c.189+12T>C - AHI1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.190-9T>C r.(=) p.(=) Unknown - likely benign g.135787520A>G g.135466382A>G AHI1(NM_001350503.1):c.190-9T>C - AHI1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190C>A r.(?) p.(Pro64Thr) Unknown - VUS g.135787511G>T g.135466373G>T AHI1(NM_001134831.1):c.190C>A (p.P64T) - AHI1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.198T>C r.(?) p.(Thr66=) Unknown - benign g.135787503A>G g.135466365A>G AHI1(NM_001134831.2):c.198T>C (p.T66=) - AHI1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202A>G r.(?) p.(Arg68Gly) Unknown - likely benign g.135787499T>C g.135466361T>C AHI1(NM_001134830.1):c.202A>G (p.(Arg68Gly)) - AHI1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.202A>G r.(?) p.(Arg68Gly) Both (homozygous) ACMG VUS g.135787499T>C g.135466361T>C - - AHI1_000065 - PubMed: Desgrouas 2025 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPat1 PubMed: Desgrouas 2025 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - yes France - 00y00m01d - - - 2 Johan den Dunnen
+?/. - c.202A>G r.(?) p.(Arg68Gly) Both (homozygous) ACMG VUS g.135787499T>C g.135466361T>C - - AHI1_000065 - PubMed: Desgrouas 2025 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPat2 PubMed: Desgrouas 2025 sib F yes France - 00y00m00d - - - 1 Johan den Dunnen
+/. 7 c.255+1G>T r.spl? p.? Unknown - pathogenic (recessive) g.135787445C>A - c.255+1G>T - AHI1_000181 - PubMed: Nishiguchi-2012 - - Unknown - - - - - DNA SEQ blood - Healthy/Control - PubMed: Nishiguchi-2012 - - - - Yoruba - - - - 1 LOVD
+/. 7 c.345+5G>A r.(?) p.? Both (homozygous) - pathogenic g.135787351C>T - c.[345+5G>A];[345+5G>A] - AHI1_000195 - PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
+?/. - c.365_688del r.(?) p.(Gln122_Lys229del) Parent #1 - likely pathogenic g.135787020_135787343del g.135465882_135466205del AHI1 365-688del - AHI1_000229 heterozygous PubMed: Utsch 2006 - - Germline yes - - - - DNA SEQ blood - JBTS F400_II:1 PubMed: Utsch 2006 family F400, individual II:1 - - - - - - - - 1 LOVD
?/. 6 c.370A>G r.(?) p.(Lys124Glu) Both (homozygous) - VUS g.135787331T>C g.135466193T>C - - AHI1_000176 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4871 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.444_445insA r.(?) p.(Val150GlyfsTer2) Parent #2 - likely pathogenic g.135787256dup g.135466118dup AHI1 444insA - AHI1_000232 automapped to c.446dupA; heterozygous PubMed: Utsch 2006 - - Germline yes - - - - DNA SEQ blood - JBTS F400_II:1 PubMed: Utsch 2006 family F400, individual II:1 - - - - - - - - 1 LOVD
-/. - c.517G>A r.(?) p.(Ala173Thr) Unknown - benign g.135787184C>T g.135466046C>T AHI1(NM_001134831.2):c.517G>A (p.A173T), AHI1(NM_017651.4):c.517G>A (p.A173T) - AHI1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.517G>A r.(?) p.(Ala173Thr) Unknown - benign g.135787184C>T g.135466046C>T AHI1(NM_001134831.2):c.517G>A (p.A173T), AHI1(NM_017651.4):c.517G>A (p.A173T) - AHI1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.553G>T r.(?) p.(Asp185Tyr) Unknown - VUS g.135787148C>A g.135466010C>A AHI1(NM_001134831.1):c.553G>T (p.D185Y) - AHI1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.630_631del r.(?) p.(Lys211Thrfs*16) Parent #1 - likely pathogenic g.135787070_135787071del - c.630_631del - AHI1_000255 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. 7 c.630_633dup r.(?) p.(Leu212Glufs*17) Parent #2 - likely pathogenic g.135787074_135787077dup g.135465936_135465939dup AHI1 623insAAGA, fs640X - AHI1_000231 obsolete annotation; automapped to c.630_633dupGAAA; heterozygous PubMed: Valente 2006 - - Germline yes - - - - DNA DHPLC, SEQ blood - JBTS COR63 PubMed: Valente 2006 - M no Switzerland white - - - - 1 LOVD
-?/. - c.653A>G r.(?) p.(Tyr218Cys) Unknown - likely benign g.135787048T>C g.135465910T>C - - AHI1_000123 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.020 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
?/. - c.653A>G r.(?) p.(Tyr218Cys) Unknown - VUS g.135787048T>C g.135465910T>C - - AHI1_000123 - PubMed: Bryant 2018 - rs183936286 Germline - - - - - DNA SEQ-NG - WES retinal disease JB375 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. - c.653A>G r.(?) p.(Tyr218Cys) Parent #1 - likely pathogenic g.135787048T>C g.135465910T>C - - AHI1_000123 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W196-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
?/. - c.653A>G r.(?) p.(Tyr218Cys) Unknown - VUS g.135787048T>C - AHI1(NM_001350503.1):c.653A>G (p.Y218C), AHI1(NM_017651.4):c.653A>G (p.Y218C) - AHI1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.653A>G r.(?) p.(Tyr218Cys) Unknown - likely benign g.135787048T>C - AHI1(NM_001350503.1):c.653A>G (p.Y218C), AHI1(NM_017651.4):c.653A>G (p.Y218C) - AHI1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.660delC r.(?) p.(Ser221Glnfs*10) Parent #1 - likely pathogenic g.135787043del g.135465905del AHI1 c.660delC, p.Ser221fs - AHI1_000230 heterozygous PubMed: Nguyen 2017 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing retinal disease Patient B-II:2 PubMed: Nguyen 2017 - F - - - - - - - 1 LOVD
+?/. - c.662C>A r.(?) p.(Ser221*) Unknown - likely pathogenic g.135787039G>T g.135465901G>T c.662C>A; p.S221* - AHI1_000180 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 517 PubMed: Brooks 2018 family 46 M - United States - - - - - 1 LOVD
+/. 7 c.662C>A r.(?) p.(Ser221*) Unknown - pathogenic g.135787039G>T - c.662C>A - AHI1_000180 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 517 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. - c.662C>G r.(?) p.(Ser221*) Parent #1 - pathogenic g.135787039G>C g.135465901G>C NM_001134831.1:c.662C>G - AHI1_000172 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW253-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.662C>G r.(?) p.(Ser221*) Parent #1 - pathogenic g.135787039G>C g.135465901G>C NM_001134831.1:c.662C>G - AHI1_000172 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW253-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.662C>G r.(?) p.(Ser221*) Parent #2 - pathogenic g.135787039G>C g.135465901G>C NM_001134831.1:c.662C>G - AHI1_000172 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW028-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. 7 c.662C>G r.(?) p.(Ser221*) Unknown - likely pathogenic g.135787039G>C - 662C>G - AHI1_000172 - PubMed: Parisi-2006 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Parisi-2006 - M no - white - - - - 1 LOVD
+?/. 7 c.662C>G r.(?) p.(Ser221*) Parent #1 - likely pathogenic g.135787039G>C g.135465901G>C AHI1 C662G, S221X - AHI1_000172 obsolete annotation; heterozygous PubMed: Valente 2006 - - Germline yes - - - - DNA DHPLC, SEQ blood - JBTS MTI-208 PubMed: Valente 2006 - M no United States white - - - - 1 LOVD
+?/. 8 c.703dup r.(?) p.(Arg235Lysfs*12) Parent #1 - likely pathogenic g.135787003dup g.135465865dup AHI1 c.703dupA, p.(Arg235LysfsTer12) - AHI1_000209 heterozygous PubMed: Collard 2020 - - Germline yes - - - - DNA SEQ-NG - retinal panel sequencing JBTS ? PubMed: Collard 2020 - F - - United Kingdom (Great Britain) - - - - 1 LOVD
-?/. - c.708A>G r.(?) p.(Lys236=) Unknown - likely benign g.135786993T>C g.135465855T>C AHI1(NM_001134831.2):c.708A>G (p.K236=) - AHI1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724C>T r.(?) p.(Pro242Ser) Unknown - likely benign g.135786977G>A g.135465839G>A AHI1(NM_001134831.1):c.724C>T (p.P242S), AHI1(NM_001350503.2):c.724C>T (p.P242S), AHI1(NM_017651.4):c.724C>T (p.P242S) - AHI1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.724C>T r.(?) p.(Pro242Ser) Unknown - benign g.135786977G>A g.135465839G>A AHI1(NM_001134831.1):c.724C>T (p.P242S), AHI1(NM_001350503.2):c.724C>T (p.P242S), AHI1(NM_017651.4):c.724C>T (p.P242S) - AHI1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.724C>T r.(?) p.(Pro242Ser) Unknown - likely benign g.135786977G>A - AHI1(NM_001134831.1):c.724C>T (p.P242S), AHI1(NM_001350503.2):c.724C>T (p.P242S), AHI1(NM_017651.4):c.724C>T (p.P242S) - AHI1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.736A>T r.(?) p.(Lys246*) Parent #2 - pathogenic g.135786965T>A g.135465827T>A NM_001134831.1:c.736A>T - AHI1_000105 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW012-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.736A>T r.(?) p.(Lys246*) Unknown - likely pathogenic g.135786965T>A g.135465827T>A c.736A>T; p.K246* - AHI1_000105 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 228 PubMed: Brooks 2018 family 50 F - United States - - - - - 1 LOVD
+/. 7 c.736A>T r.(?) p.(Lys246*) Unknown - pathogenic g.135786965T>A - c.736A>T - AHI1_000105 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 228 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+?/. 8 c.750-100_1151+99del r.(?) p.? Maternal (confirmed) - likely pathogenic g.135778534_135784545del g.135457396_135463407del deletion chromosome 6:135778533–1357845 - AHI1_000225 heterozygous PubMed: Zhu 2017 - - Germline yes - - - - DNA ? - exome sequencing JBTS ? PubMed: Zhu 2017 27 weeks gestation fetus, prenatal diagnostics exome sequencing, terminated pregnancy M no - Italian - - - - 1 LOVD
-?/. - c.750-6T>C r.(=) p.(=) Unknown - likely benign g.135784450A>G - AHI1(NM_001350503.2):c.750-6T>C - AHI1_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.787dup r.(?) p.(Gln263Profs*8) Both (homozygous) - likely pathogenic g.135784407dup g.135463269dup AHI1 787insC, fsX270 - AHI1_000228 c.787insC automapped to c.787dupC; homozygous PubMed: Dixon-Salazar 2004 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease 10-1 PubMed: Dixon-Salazar 2004 family MTI 010, individual 1 (proband) M yes - Palestinian - - - - 1 LOVD
+?/. 8 c.787_788insC r.(?) p.(Gln263Profs*8) Both (homozygous) - likely pathogenic g.135784406_135784407insG - c.787 ins C - AHI1_000188 - PubMed: Parisi-2006 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Parisi-2006 - M yes - Palestinian - - - - 1 LOVD
-?/. - c.804A>C r.(?) p.(Ser268=) Unknown - likely benign g.135784390T>G g.135463252T>G AHI1(NM_001134831.1):c.804A>C (p.S268=), AHI1(NM_017651.4):c.804A>C (p.S268=) - AHI1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804A>C r.(?) p.(Ser268=) Unknown - likely benign g.135784390T>G - AHI1(NM_001134831.1):c.804A>C (p.S268=), AHI1(NM_017651.4):c.804A>C (p.S268=) - AHI1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.832C>T r.(?) p.(Gln278Ter) Both (homozygous) - likely pathogenic g.135784362G>A g.135463224G>A AHI1 c.832C > T (p.Gln278Ter) - AHI1_000227 homozygous PubMed: Karamzade 2021 - - Germline yes - - - - DNA SEQ-NG - retinal panel sequencing JBTS ? PubMed: Karamzade 2021 - F - Iran - - - - - 1 LOVD
+/. - c.841G>T r.(?) p.(Glu281Ter) Maternal (confirmed) - pathogenic g.135784353C>A g.135463215C>A - - AHI1_000143 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam14 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
+?/. 8 c.841G>T r.(?) p.(Glu281*) Both (homozygous) - likely pathogenic g.135784353C>A - c.841G>T - AHI1_000143 - PubMed: Enokizono 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 6 PubMed: Enokizono 2017 - M - Japan - - - - - 1 LOVD
?/. - c.868G>A r.(?) p.(Glu290Lys) Unknown - VUS g.135784326C>T g.135463188C>T AHI1(NM_001134831.1):c.868G>A (p.E290K) - AHI1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.901C>A r.(?) p.(Pro301Thr) Unknown - benign g.135784293G>T g.135463155G>T AHI1(NM_017651.4):c.901C>A (p.P301T) - AHI1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.903dup r.(?) p.(Thr304Asnfs*6) Both (homozygous) - pathogenic g.135784291dup g.135463153dup NM_001134831.1:c.910dupA - AHI1_000171 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW226-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.903dup r.(?) p.(Thr304Asnfs*6) Both (homozygous) - pathogenic g.135784291dup g.135463153dup NM_001134831.1:c.910dupA - AHI1_000171 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW226-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.903dup r.(?) p.(Thr304Asnfs*6) Both (homozygous) - pathogenic g.135784291dup g.135463153dup NM_001134831.1:c.910dupA - AHI1_000171 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW226-5 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.903dup r.(?) p.(Thr304Asnfs*6) Both (homozygous) - pathogenic g.135784291dup g.135463153dup NM_001134831.1:c.910dupA - AHI1_000171 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW306-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. 8 c.903_910insA r.(?) p.(Thr304fs*309) Unknown - likely pathogenic g.135784284_135784291insT - c.903_910insA - AHI1_000198 - PubMed: Enokizono 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 8 PubMed: Enokizono 2017 - F - Japan - - - - - 1 LOVD
+?/. 8 c.910dup r.(?) p.(Thr304Asnfs*6) Unknown - likely pathogenic g.135784291dup g.135463153dup c.910_911insA; p.T304Nfs*6 - AHI1_000171 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 574 PubMed: Brooks 2018 family 48 M - United States - - - - - 1 LOVD
+/. 8 c.910dup r.(?) p.(Thr304Asnfs*6) Unknown - pathogenic g.135784284dup - c.910dup - AHI1_000171 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 574 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
?/. - c.910dup r.(?) p.(Thr304AsnfsTer6) Unknown ACMG VUS g.135784291dup g.135463153dup AHI1 c.910dupA, p.T304fs - AHI1_000171 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 101 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. 8 c.910dup r.(?) p.(Thr304Asnfs*6) Parent #1 - likely pathogenic g.135784291dup g.135463153dup AHI1 903insA, fs309X splice - AHI1_000171 obsolete annotation; automapped to c.911dupC; heterozygous PubMed: Valente 2006 - - Germline yes - - - - DNA DHPLC, SEQ blood - JBTS MTI-107 PubMed: Valente 2006 - F yes Spain - - - - - 1 LOVD
+?/. 8 c.910dup r.(?) p.(Thr304Asnfs*6) Both (homozygous) - likely pathogenic g.135784291dup g.135463153dup AHI1 c.910dup, p.Thr304AsnfsX6 - AHI1_000171 homozygous PubMed: Chafai-Elalaoui 2015 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS III:1 PubMed: Chafai-Elalaoui 2015 Family 1, individual III:1 M yes Morocco - - - - - 1 LOVD
+?/. 8 c.910dup r.(?) p.(Thr304Asnfs*6) Both (homozygous) - likely pathogenic g.135784291dup g.135463153dup AHI1 c.910dup, p.Thr304AsnfsX6 - AHI1_000171 homozygous PubMed: Chafai-Elalaoui 2015 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS III:2 PubMed: Chafai-Elalaoui 2015 Family 1, individual III:2 F yes Morocco - - - - - 1 LOVD
+?/. 8 c.910dup r.(?) p.(Thr304Asnfs*6) Both (homozygous) - likely pathogenic g.135784291dup g.135463153dup AHI1 c.910dup, p.Thr304AsnfsX6 - AHI1_000171 homozygous PubMed: Chafai-Elalaoui 2015 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS III:3 PubMed: Chafai-Elalaoui 2015 Family 1, individual III:3 M yes Morocco - - - - - 1 LOVD
+/. - c.910dup r.(?) p.(Thr304Asnfs*6) Unknown - pathogenic g.135784291dup - AHI1(NM_017651.4):c.910dupA (p.T304Nfs*6) - AHI1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.910dup r.(?) p.(Thr304Asnfs*6) Paternal (confirmed) - pathogenic (recessive) g.135784284dup - 910dupA - AHI1_000171 - PubMed: Zhang 2022 - - Germline - - - - - DNA MLPA, SEQ-NG - WES JBTS Pat3 PubMed: Zhang 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+?/. 7 c.910_911insA r.(?) p.(Thr304Asnfs*6) Parent #1 - likely pathogenic g.135784291dup g.135463153dup AHI1 c.910_911insA (p.Thr304AsnfsX6) - AHI1_000171 heterozygous; automapped to c.910dup PubMed: Kroes 2008 - - Unknown ? - - - - DNA SEQ blood - JBTS 2 PubMed: Kroes 2008 - - - - - - - - - 1 LOVD
+?/. 7 c.910_911insA r.(?) p.(Thr304Asnfs*6) Parent #1 - likely pathogenic g.135784291dup g.135463153dup AHI1 c.910_911insA (p.Thr304AsnfsX6) - AHI1_000171 heterozygous; automapped to c.910dup PubMed: Kroes 2008 - - Unknown ? - - - - DNA SEQ blood - JBTS 3 PubMed: Kroes 2008 - - - - - - - - - 1 LOVD
+?/. 8 c.911dup r.(?) p.(Lys307Glufs*3) Parent #1 - likely pathogenic g.135784283dup g.135463145dup AHI1 911insC, fs309X - AHI1_000226 obsolete annotation; automapped to c.910dupA; heterozygous PubMed: Valente 2006 - - Germline yes - - - - DNA DHPLC, SEQ blood - JBTS MTI-112 PubMed: Valente 2006 - M no United States white - - - - 1 LOVD
+?/. 8 c.911_912dup r.(?) p.(Lys305Glnfs*23) Parent #1 - likely pathogenic g.135784283_135784284dup g.135463145_135463146dup 910_911dup - AHI1_000008 - PubMed: Kroes 2016 - - Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 2-43 Pat2 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
+?/. 8 c.911_912dup r.(?) p.(Lys305Glnfs*23) Parent #2 - likely pathogenic g.135784283_135784284dup g.135463145_135463146dup 910_911dup, also reported as g.135784283insT - AHI1_000008 - PubMed: Kroes 2016 - - Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 2-51 Pat3 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
-/. - c.932-13dup r.(=) p.(=) Unknown - benign g.135778872dup g.135457734dup AHI1(NM_001134831.2):c.932-13dupT - AHI1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932-10A>G r.(=) p.(=) Unknown - likely benign g.135778861T>C - AHI1(NM_001350503.2):c.932-10A>G, AHI1(NM_017651.4):c.932-10A>G - AHI1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932-10A>G r.(=) p.(=) Unknown - likely benign g.135778861T>C - AHI1(NM_001350503.2):c.932-10A>G, AHI1(NM_017651.4):c.932-10A>G - AHI1_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i c.932-2A>G r.spl? p.? Unknown - pathogenic g.135778853T>C - IVS8 (-2 A>G) - AHI1_000187 - PubMed: Parisi-2006 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Parisi-2006 - F no - white - - - - 1 LOVD
+?/. 9 c.985C>T r.(?) p.(Arg329*) Parent #2 - likely pathogenic g.135778798G>A g.135457660G>A - - AHI1_000009 - PubMed: Kroes 2016 - rs201391050 Unknown - - - - - DNA SEQ-NG-S blood - JBTS1 2-37 Pat1 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
+/. 9 c.985C>T r.(?) p.(Arg329*) Unknown - pathogenic g.135778798G>A - c.985C>T: p.R329X - AHI1_000009 - PubMed: Toma-2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Toma-2018 each of the variants was inherited by one healthy parent F - - Italian - - - - 1 LOVD
+/. 9 c.985C>T r.(?) p.(Arg329*) Unknown - pathogenic g.135778798G>A - c.985C>T: p.R329X - AHI1_000009 - PubMed: Toma-2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Toma-2018 sister of patient 3. F - - Italian - - - - 1 LOVD
+?/. 8 c.985C>T r.(?) p.(Arg329*) Parent #1 - likely pathogenic g.135778798G>A g.135457660G>A AHI1 c.985C>T (p.Arg329X) - AHI1_000009 heterozygous PubMed: Kroes 2008 - - Unknown ? - - - - DNA SEQ blood - JBTS 1 PubMed: Kroes 2008 - - - - - - - - - 1 LOVD
-?/. - c.986G>T r.(?) p.(Arg329Leu) Unknown - likely benign g.135778797C>A g.135457659C>A AHI1(NM_001134831.1):c.986G>T (p.R329L) - AHI1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.988delinsTAAATAATA r.(?) p.(Asp330Ter) Both (homozygous) - pathogenic g.135778795delinsTATTATTTA g.135457657delinsTATTATTTA - - AHI1_000175 - PubMed: Ganapathy 2019 - rs777241163 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5981 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 9 c.989A>G r.(?) p.(Asp330Gly) Unknown - VUS g.135778794T>C g.135457656T>C - - AHI1_000004 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
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