Unique variants in the AHI1 gene

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) PubMed: Narang 2020, Journal: Narang 2020 - 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 PubMed: Narang 2020, Journal: Narang 2020 - 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 PubMed: Narang 2020, Journal: Narang 2020 - 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 PubMed: Narang 2020, Journal: Narang 2020 - 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 PubMed: Narang 2020, Journal: Narang 2020 - 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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