Unique variants in gene AHI1

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

108 entries on 2 pages. Showing entries 1 - 100.
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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     
-/. 1 - c.-378G>T r.(?) p.(=) - benign g.135818897C>A g.135497759C>A - - AHI1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-54-6C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-30C>A r.(?) p.(=) - VUS g.135813405G>T g.135492267G>T AHI1(NM_001134831.1):c.-30C>A - AHI1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.72T>C r.(?) p.(Ser24=) - benign g.135811824A>G g.135490686A>G AHI1(NM_001134831.1):c.72T>C (p.S24=) - AHI1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.96dup r.(?) p.(Leu33ThrfsTer9) - pathogenic g.135811805dup g.135490667dup AHI1(NM_001134831.1):c.96dupA (p.L33Tfs*9), AHI1(NM_017651.4):c.96dupA (p.L33Tfs*9) - AHI1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.108A>G r.(?) p.(Lys36=) - likely benign g.135811788T>C g.135490650T>C AHI1(NM_001350503.1):c.108A>G (p.K36=) - AHI1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.189+12T>C r.(=) p.(=) - likely benign g.135788707A>G g.135467569A>G AHI1(NM_001134831.1):c.189+12T>C - AHI1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.190-9T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.190C>A r.(?) p.(Pro64Thr) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.198T>C r.(?) p.(Thr66=) - benign g.135787503A>G g.135466365A>G AHI1(NM_001134831.1):c.198T>C (p.T66=) - AHI1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.202A>G r.(?) p.(Arg68Gly) - 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 - - - - - VKGL-NL_Leiden
-/. 2 - c.517G>A r.(?) p.(Ala173Thr) - benign g.135787184C>T g.135466046C>T AHI1(NM_001134831.1):c.517G>A (p.A173T), AHI1(NM_017651.4):c.517G>A (p.A173T) - AHI1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
?/. 1 - c.553G>T r.(?) p.(Asp185Tyr) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.653A>G r.(?) p.(Tyr218Cys) - 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 - - - Global Variome, with Curator vacancy
-?/. 1 - c.708A>G r.(?) p.(Lys236=) - likely benign g.135786993T>C g.135465855T>C AHI1(NM_001134831.1):c.708A>G (p.=) - AHI1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.724C>T r.(?) p.(Pro242Ser) - benign g.135786977G>A g.135465839G>A AHI1(NM_001134831.1):c.724C>T (p.P242S) - AHI1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.804A>C r.(?) p.(Ser268=) - likely benign g.135784390T>G g.135463252T>G AHI1(NM_001134831.1):c.804A>C (p.S268=) - AHI1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.868G>A r.(?) p.(Glu290Lys) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.901C>A r.(?) p.(Pro301Thr) - 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 - - - - - VKGL-NL_Utrecht
+?/. 2 8 c.911_912dup r.(?) p.(Lys305Glnfs*23) - likely pathogenic g.135784283_135784284dup g.135463145_135463146dup 910_911dup - AHI1_000008 - - - - Unknown ? - - - - Sanne Savelberg
-/. 1 - c.932-13dup r.(=) p.(=) - benign g.135778872dup g.135457734dup AHI1(NM_001134831.1):c.932-13dupT - AHI1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 9 c.985C>T r.(?) p.(Arg329*) - likely pathogenic g.135778798G>A g.135457660G>A - - AHI1_000009 - - - rs201391050 Unknown - - - - - Sanne Savelberg
-?/. 1 - c.986G>T r.(?) p.(Arg329Leu) - 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 - - - - - VKGL-NL_Rotterdam
?/. 2 9 c.989A>G r.(?) p.(Asp330Gly) - VUS g.135778794T>C g.135457656T>C AHI1(NM_001134830.1):c.989A>G (p.(Asp330Gly)) - AHI1_000004 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL_Leiden
-?/. 2 - c.990T>C r.(?) p.(Asp330=) - likely benign g.135778793A>G g.135457655A>G AHI1(NM_001134831.1):c.990T>C (p.D330=) - AHI1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 - c.1051C>T r.(?) p.(Arg351Ter) - pathogenic g.135778732G>A g.135457594G>A - - AHI1_000118 - - - - Unknown - - - - - IMGAG
+/. 1 - c.1052G>T r.(?) p.(Arg351Leu) - pathogenic g.135778731C>A g.135457593C>A - - AHI1_000119 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs397514726 Germline - 3/2795 individuals - - - Mohammed Faruq
?/. 1 - c.1093A>C r.(?) p.(Met365Leu) - VUS g.135778690T>G g.135457552T>G AHI1(NM_001350503.1):c.1093A>C (p.M365L) - AHI1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1145A>G r.(?) p.(Asp382Gly) - VUS g.135778638T>C g.135457500T>C AHI1(NM_001134831.1):c.1145A>G (p.D382G) - AHI1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1152-7dup r.(=) p.(=) - benign g.135777077dup g.135455939dup AHI1(NM_001134831.1):c.1152-7dupT - AHI1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 10 c.1303C>T r.(?) p.(Arg435*) - likely pathogenic g.135776913G>A g.135455775G>A - - AHI1_000010 - - - rs121434349 Unknown ? - - - - Sanne Savelberg
-?/. 1 - c.1304G>A r.(?) p.(Arg435Gln) - likely benign g.135776912C>T g.135455774C>T AHI1(NM_001134830.1):c.1304G>A (p.(Arg435Gln)) - AHI1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 10 c.1328T>A r.(?) p.(Val443Asp) - pathogenic g.135776888A>T g.135455750A>T - - AHI1_000002 - - - - Germline - - - - - Anas M Alazami
-/. 1 - c.1344+17_1344+54del r.(=) p.(=) - benign g.135776818_135776855del g.135455680_135455717del AHI1(NM_001134831.1):c.1344+17_1344+54del - AHI1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1405T>C r.(?) p.(Cys469Arg) - likely benign g.135774514A>G g.135453376A>G AHI1(NM_001134831.1):c.1405T>C (p.C469R) - AHI1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1546G>A r.(?) p.(Glu516Lys) - VUS g.135769508C>T g.135448370C>T AHI1(NM_001134830.1):c.1546G>A (p.(Glu516Lys)) - AHI1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1594G>A r.(?) p.(Val532Ile) - VUS g.135769460C>T g.135448322C>T AHI1(NM_001134831.1):c.1594G>A (p.V532I) - AHI1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1627-92T>A r.(=) p.(=) - benign g.135768390A>T g.135447252A>T AHI1(NM_017651.4):c.1627-92T>A - AHI1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1627-9C>G r.(=) p.(=) - benign g.135768307G>C g.135447169G>C AHI1(NM_001134831.1):c.1627-9C>G - AHI1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1643G>A r.(?) p.(Arg548His) - benign, likely benign g.135768282C>T g.135447144C>T AHI1(NM_001134830.1):c.1643G>A (p.(Arg548His)), AHI1(NM_001134831.1):c.1643G>A (p.R548H) - AHI1_000050 30 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs35433555 Germline, CLASSIFICATION record - 30/2794 individuals - - - Mohammed Faruq, VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.1680A>G r.(?) p.(Pro560=) - benign g.135768245T>C g.135447107T>C AHI1(NM_001134831.1):c.1680A>G (p.P560=) - AHI1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1686T>C r.(?) p.(His562=) - benign g.135768239A>G g.135447101A>G AHI1(NM_001134831.1):c.1686T>C (p.H562=) - AHI1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., -?/. 2 - c.1694G>A r.(?) p.(Arg565His) - VUS, likely benign g.135768231C>T g.135447093C>T AHI1(NM_001134831.1):c.1694G>A (p.R565H), AHI1(NM_001350503.1):c.1694G>A (p.R565H) - AHI1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.1725A>G r.(?) p.(Glu575=) - likely benign g.135768200T>C g.135447062T>C AHI1(NM_001134831.1):c.1725A>G (p.E575=) - AHI1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1780-14C>T r.(=) p.(=) - benign g.135763866G>A g.135442728G>A AHI1(NM_001134831.1):c.1780-14C>T - AHI1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Rotterdam
-?/. 1 - c.1788T>C r.(?) p.(Arg596=) - likely benign g.135763844A>G g.135442706A>G AHI1(NM_001134831.1):c.1788T>C (p.R596=) - AHI1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.1791C>T r.(?) p.(Ile597=) - benign g.135763841G>A g.135442703G>A AHI1(NM_001134831.1):c.1791C>T (p.I597=) - AHI1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.1799A>G r.(?) p.(Lys600Arg) - VUS g.135763833T>C g.135442695T>C AHI1(NM_001134831.1):c.1799A>G (p.K600R) - AHI1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1829G>A r.(?) p.(Arg610Gln) - VUS g.135763803C>T g.135442665C>T AHI1(NM_001350503.1):c.1829G>A (p.R610Q) - AHI1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 15 c.1983del r.(?) p.(Trp662Glyfs*24) - pathogenic g.135759567del g.135438429del - - AHI1_000012 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
-/. 1 - c.2036+96G>A r.(=) p.(=) - benign g.135759417C>T g.135438279C>T AHI1(NM_017651.4):c.2036+96G>A - AHI1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2037-109G>A r.(=) p.(=) - benign g.135754503C>T g.135433365C>T AHI1(NM_017651.4):c.2037-109G>A - AHI1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 16 c.2057_2060del r.(?) p.(Asn686Ilefs*23) - likely pathogenic g.135754373_135754376del g.135433235_135433238del - - AHI1_000011 - - - - Unknown ? - - - - Sanne Savelberg
+?/. 1 - c.2168G>A r.(?) p.(Arg723Gln) - likely pathogenic g.135754263C>T g.135433125C>T AHI1(NM_017651.4):c.2168G>A (p.R723Q) - AHI1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 6 16 c.2174G>A r.(?) p.(Trp725Ter), p.(Trp725*) - pathogenic, pathogenic (recessive) g.135754257C>T g.135433119C>T AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*) - AHI1_000014 VKGL data sharing initiative Nederland ClinVar-RCV000144464.2 - rs587783013 CLASSIFICATION record, Germline ? - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Rotterdam, Lonneke Haer-Wigman, Jinu Han
+/. 2 15 c.2212C>T r.(?) p.(Arg738*) ACMG pathogenic g.135754219G>A g.135433081G>A - - AHI1_000081 - Sharon, submitted, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Dror Sharon, Global Variome, with Curator vacancy
-/. 2 - c.2223T>C r.(?) p.(Asp741=) - benign g.135754208A>G g.135433070A>G AHI1(NM_001134831.1):c.2223T>C (p.D741=), AHI1(NM_017651.4):c.2223T>C (p.D741=) - AHI1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+?/. 1 16 c.2248_2249insA r.(?) p.(Leu750Hisfs*4) - likely pathogenic g.135754182_135754183insT g.135433044_135433045insT - - AHI1_000005 - - - - Unknown - - - - - Sanne Savelberg
+?/. 2 16 c.2258A>T r.(?) p.(Asp753Val) - likely pathogenic g.135754173T>A g.135433035T>A - - AHI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Lonneke Haer-Wigman
?/. 1 - c.2266G>T r.(?) p.(Gly756Cys) - VUS g.135754165C>A g.135433027C>A AHI1(NM_001134831.1):c.2266G>T (p.G756C) - AHI1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2266+9G>A r.(=) p.(=) - benign g.135754156C>T g.135433018C>T AHI1(NM_001134831.1):c.2266+9G>A - AHI1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2266+152A>G r.(=) p.(=) - benign g.135754013T>C g.135432875T>C AHI1(NM_017651.4):c.2266+152A>G - AHI1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2294C>T r.(?) p.(Thr765Ile) - likely benign g.135752425G>A g.135431287G>A AHI1(NM_001134831.1):c.2294C>T (p.T765I) - AHI1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2350G>T r.(?) p.(Val784Leu) - likely benign g.135752369C>A g.135431231C>A AHI1(NM_001134831.1):c.2350G>T (p.V784L) - AHI1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2373+18A>G r.(=) p.(=) - likely benign g.135752328T>C g.135431190T>C AHI1(NM_001350503.1):c.2373+18A>G - AHI1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2374-7A>G r.(=) p.(=) - benign g.135751145T>C g.135430007T>C AHI1(NM_001134831.1):c.2374-7A>G - AHI1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2441G>A r.(?) p.(Arg814His) - VUS g.135751071C>T g.135429933C>T AHI1(NM_001134830.1):c.2441G>A (p.(Arg814His)) - AHI1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/., -/. 11 18 c.2488C>T r.(?) p.(Arg830Trp) - likely benign, VUS, benign g.135751024G>A g.135429886G>A 1 more item - AHI1_000006 45 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs13312995 Germline, CLASSIFICATION record - 45/2795 individuals - - - Mohammed Faruq, Gerard C.P. Schaafsma, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Groningen
+/. 1 19 c.2495del r.(?) p.(Leu832*) - pathogenic g.135749896del g.135428758del - - AHI1_000013 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - Christopher Watson
-?/. 1 - c.2504G>C r.(?) p.(Arg835Thr) - likely benign g.135749886C>G g.135428748C>G AHI1(NM_001134830.1):c.2504G>C (p.(Arg835Thr)) - AHI1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.2505G>A r.(?) p.(Arg835=) - benign, likely benign g.135749885C>T g.135428747C>T AHI1(NM_001134831.1):c.2505G>A (p.R835=) - AHI1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/., -?/. 3 - c.2624-6A>G r.(=) p.(=) - benign, likely benign g.135748451T>C g.135427313T>C AHI1(NM_001134831.1):c.2624-6A>G, AHI1(NM_017651.4):c.2624-6A>G - AHI1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/. 3 - c.2660A>G r.(?) p.(Lys887Arg) - VUS g.135748409T>C g.135427271T>C AHI1(NM_001134830.1):c.2660A>G (p.(Lys887Arg)), AHI1(NM_001134831.1):c.2660A>G (p.K887R) - AHI1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.2794C>T r.(?) p.(Arg932Cys) - likely benign g.135732653G>A g.135411515G>A AHI1(NM_001134831.1):c.2794C>T (p.R932C) - AHI1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., -?/., -/. 3 - c.2798A>G r.(?) p.(Tyr933Cys) - VUS, likely benign, benign g.135732649T>C g.135411511T>C AHI1(NM_001134831.1):c.2798A>G (p.Y933C), AHI1(NM_017651.4):c.2798A>G (p.Y933C) - AHI1_000033 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs41288013 Germline, CLASSIFICATION record - 7/2795 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 2 - c.2808A>G r.(?) p.(Thr936=) - benign, likely benign g.135732639T>C g.135411501T>C AHI1(NM_001134831.1):c.2808A>G (p.T936=) - AHI1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.2945G>T r.(?) p.(Arg982Met) - VUS g.135732502C>A g.135411364C>A AHI1(NM_001134831.1):c.2945G>T (p.R982M) - AHI1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 21 c.2950G>T r.(?) p.(Glu984*) - pathogenic g.135732497C>A g.135411359C>A - - AHI1_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
-/. 1 - c.2961+6_2961+7insGAC r.(=) p.(=) - benign g.135732479_135732480insGTC g.135411341_135411342insGTC AHI1(NM_001134831.1):c.2961+6_2961+7insGAC - AHI1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/., -/. 3 21i c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA r.spl?, r.(spl?) p.(?) - VUS, benign g.135732465_135732479delinsTTTAAAACTTTAAAAAAGTC g.135411327_135411341delinsTTTAAAACTTTAAAAAAGTC 2961+7_21delins20 - AHI1_000001 heterozygous variant only, predicted benign PubMed: Arno 2017, PubMed: Neveling 2012 - - Germline - - - - - Johan den Dunnen, Kornelia Neveling
-/. 1 - c.2961+9del r.(=) p.(=) - benign g.135732477del g.135411339del AHI1(NM_001134831.1):c.2961+9delA - AHI1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2961+15T>A r.(=) p.(=) - benign g.135732471A>T g.135411333A>T AHI1(NM_001134831.1):c.2961+15T>A - AHI1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2961+16_2961+17del r.(=) p.(=) - benign g.135732469_135732470del g.135411331_135411332del AHI1(NM_001134831.1):c.2961+16_2961+17delGC - AHI1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2961+21_2961+22insTTAAA r.(=) p.(=) - benign g.135732464_135732465insTTTAA g.135411326_135411327insTTTAA AHI1(NM_001134831.1):c.2961+21_2961+22insTTAAA - AHI1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.2972G>A r.(?) p.(Arg991His) - benign, likely benign g.135726105C>T g.135404967C>T 1 more item - AHI1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Leiden, VKGL-NL_AMC
-?/., -/. 3 - c.3015A>G r.(=), r.(?) p.(=), p.(Ser1005=) - likely benign, benign g.135716008T>C g.135394870T>C AHI1(NM_001134831.1):c.3015A>G (p.S1005=), AHI1(NM_017651.4):c.3015A>G (p.S1005=) - AHI1_000027 41 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs41287054 Germline, CLASSIFICATION record - 41/2795 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.3030C>T r.(?) p.(Ser1010=) - likely benign g.135715993G>A - AHI1(NM_001350503.1):c.3030C>T (p.S1010=) - AHI1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 4 22 c.3032C>G r.(?) p.(Ser1011*), p.(Ser1011Ter) ACMG pathogenic, likely pathogenic g.135715991G>C g.135394853G>C AHI1(NM_001134831.1):c.3032C>G (p.S1011*) - AHI1_000075 VKGL data sharing initiative Nederland Sharon, submitted, PubMed: Sharon 2019 - - Germline, CLASSIFICATION record - 1/2420 IRD families - - - Dror Sharon, VKGL-NL_AMC, VKGL-NL_Rotterdam, Global Variome, with Curator vacancy
-?/. 1 - c.3033A>G r.(?) p.(Ser1011=) - likely benign g.135715990T>C g.135394852T>C AHI1(NM_001134831.1):c.3033A>G (p.S1011=) - AHI1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3039G>A r.(?) p.(Gln1013=) - benign g.135715984C>T g.135394846C>T AHI1(NM_001134831.1):c.3039G>A (p.Q1013=) - AHI1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.3053A>C r.(?) p.(Gln1018Pro) - benign g.135715970T>G g.135394832T>G AHI1(NM_017651.4):c.3053A>C (p.Q1018P) - AHI1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.3109+6743_3109+6746del r.(=) p.(=) - VUS g.135709171_135709174del - AHI1(NM_001134832.1):c.3110_3113delACAG (p.D1037Vfs*41) - AHI1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.3164C>T r.(?) p.(Thr1055Met) - benign g.135679271G>A g.135358133G>A AHI1(NM_001134831.1):c.3164C>T (p.T1055M) - AHI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3220C>T r.(?) p.(Arg1074Cys) - VUS g.135644408G>A g.135323270G>A AHI1(NM_001134830.1):c.3220C>T (p.(Arg1074Cys)) - AHI1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/., ?/., -/., -?/. 5 25 c.3257A>G r.(?) p.(Glu1086Gly) - likely pathogenic, VUS, benign, likely benign g.135644371T>C g.135323233T>C AHI1(NM_001134831.1):c.3257A>G (p.E1086G) - AHI1_000007 VKGL data sharing initiative Nederland - - rs148000791 Germline, CLASSIFICATION record ? - - - - Sanne Savelberg, Gerard C.P. Schaafsma, VKGL-NL_AMC, VKGL-NL_Groningen
+?/. 1 - c.3296G>A r.(?) p.(Gly1099Asp) - likely pathogenic g.135644332C>T g.135323194C>T AHI1(NM_017651.4):c.3296G>A (p.G1099D) - AHI1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3352G>A r.(?) p.(Glu1118Lys) - likely benign g.135639731C>T g.135318593C>T AHI1(NM_001134831.1):c.3352G>A (p.E1118K) - AHI1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 5 - c.3368C>T r.(?) p.(Ser1123Phe) - likely benign, VUS g.135639715G>A g.135318577G>A 1 more item - AHI1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.3426+3A>T r.spl? p.? - VUS g.135639654T>A g.135318516T>A AHI1(NM_001134831.1):c.3426+3A>T - AHI1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 4 - c.3426+13G>A r.(=) p.(=) - benign g.135639644C>T g.135318506C>T AHI1(NM_001134831.1):c.3426+13G>A - AHI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Groningen, VKGL-NL_Rotterdam
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