Unique variants in the KIAA1549 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001164665.1 transcript reference sequence.

147 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     
+/., +?/. 4 1 c.52del r.(?) p.(Arg18Alafs*64) - likely pathogenic, pathogenic (recessive) g.138665967del g.138981221del - - KIAA1549_000051 - PubMed: de Bruijn 2018 - - Germline yes - - - - Johan den Dunnen, Susanne Roosing
?/. 1 - c.74C>T r.(?) p.(Pro25Leu) - VUS g.138665942G>A g.138981196G>A - - KIAA1549_000098 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.95C>T r.(?) p.(Pro32Leu) - VUS g.138665921G>A g.138981175G>A - - KIAA1549_000097 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/., ?/. 2 - c.103C>T r.(?) p.(Arg35Cys) - likely benign, VUS g.138665913G>A g.138981167G>A KIAA1549(NM_001164665.2):c.103C>T (p.R35C) - KIAA1549_000048 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - CLASSIFICATION record, Germline - 4/1204 cases with retinitis pigmentosa - - - VKGL-NL_AMC, Yoshito Koyanagi
?/. 1 - c.112C>T r.(?) p.(Arg38Cys) - VUS g.138665904G>A g.138981158G>A - - KIAA1549_000096 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.183C>T r.(?) p.(Ala61=) - benign g.138665833G>A g.138981087G>A KIAA1549(NM_001164665.2):c.183C>T (p.A61=) - KIAA1549_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.218C>T r.(?) p.(Ser73Phe) - VUS g.138604154G>A g.138919408G>A - - KIAA1549_000095 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.223T>C r.(?) p.(Tyr75His) - likely benign g.138604149A>G g.138919403A>G KIAA1549(NM_001164665.2):c.223T>C (p.Y75H) - KIAA1549_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.261C>T r.(?) p.(His87=) - benign g.138604111G>A g.138919365G>A KIAA1549(NM_001164665.2):c.261C>T (p.H87=) - KIAA1549_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.335C>T r.(?) p.(Pro112Leu) - VUS g.138604037G>A g.138919291G>A - - KIAA1549_000094 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.385A>G r.(?) p.(Thr129Ala) - VUS g.138603987T>C g.138919241T>C - - KIAA1549_000093 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/., ?/. 5 - c.462C>G r.(?) p.(Asp154Glu) - likely benign, VUS g.138603910G>C g.138919164G>C KIAA1549(NM_001164665.2):c.462C>G (p.D154E) - KIAA1549_000092 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Xu 2014 - rs191728209 CLASSIFICATION record, Germline - 3/314 case chromosomes, 4/1204 cases with retinitis pigmentosa - - - VKGL-NL_AMC, Yoshito Koyanagi
?/. 1 - c.625A>T r.(?) p.(Thr209Ser) - VUS g.138603747T>A g.138919001T>A - - KIAA1549_000091 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs535256475 Germline - 13/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.643A>G r.(?) p.(Thr215Ala) - VUS g.138603729T>C - KIAA1549(NM_001164665.1):c.643A>G (p.T215A) - KIAA1549_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 3 - c.658G>C r.(?) p.(Ala220Pro) - benign, VUS g.138603714C>G g.138918968C>G KIAA1549(NM_001164665.1):c.658G>C (p.A220P) - KIAA1549_000046 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs79731548 CLASSIFICATION record, Germline - 11/1204 cases with retinitis pigmentosa, 185/1204 cases with retinitis pigmentosa - - - VKGL-NL_Rotterdam, Yoshito Koyanagi
?/. 1 - c.659C>T r.(?) p.(Ala220Val) - VUS g.138603713G>A g.138918967G>A - - KIAA1549_000090 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.697C>T r.(?) p.(Arg233Trp) - VUS g.138603675G>A g.138918929G>A - - KIAA1549_000089 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs369822469 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.710G>T r.(?) p.(Arg237Leu) - likely benign g.138603662C>A g.138918916C>A KIAA1549(NM_001164665.2):c.710G>T (p.R237L) - KIAA1549_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.876G>A r.(?) p.(Pro292=) - likely benign g.138603496C>T g.138918750C>T KIAA1549(NM_020910.3):c.876G>A (p.P292=) - KIAA1549_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.885C>T r.(?) p.(Asp295=) - benign g.138603487G>A g.138918741G>A KIAA1549(NM_001164665.2):c.885C>T (p.D295=) - KIAA1549_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.899C>T r.(?) p.(Pro300Leu) - VUS g.138603473G>A - KIAA1549(NM_001164665.1):c.899C>T (p.P300L) - KIAA1549_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1031C>G r.(?) p.(Thr344Ser) - VUS g.138603341G>C g.138918595G>C NM_001164665:c.1031C>G - KIAA1549_000148 - PubMed: Chatron 2020 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1049C>T r.(?) p.(Ala350Val) - VUS g.138603323G>A g.138918577G>A - - KIAA1549_000099 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/., ?/. 2 - c.1070C>A r.(?) p.(Thr357Lys) - likely benign, VUS g.138603302G>T g.138918556G>T KIAA1549(NM_001164665.1):c.1070C>A (p.T357K), KIAA1549(NM_001164665.2):c.1070C>A (p.T357K) - KIAA1549_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 - c.1090A>G r.(?) p.(Thr364Ala) - VUS g.138603282T>C g.138918536T>C - - KIAA1549_000088 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs59985563 Germline - 19/1204 cases with retinitis pigmentosa, 265/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1094C>T r.(?) p.(Pro365Leu) - VUS g.138603278G>A g.138918532G>A - - KIAA1549_000087 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs746764454 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.1136C>G r.(?) p.(Ser379Cys) - likely benign g.138603236G>C - KIAA1549(NM_001164665.2):c.1136C>G (p.(Ser379Cys)) - KIAA1549_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1155C>T r.(?) p.(Ser385=) - benign g.138603217G>A g.138918471G>A KIAA1549(NM_001164665.2):c.1155C>T (p.S385=) - KIAA1549_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1173C>T r.(?) p.(Ser391=) - likely benign g.138603199G>A - KIAA1549(NM_001164665.1):c.1173C>T (p.S391=) - KIAA1549_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1174G>A r.(?) p.(Glu392Lys) - VUS g.138603198C>T g.138918452C>T - - KIAA1549_000126 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - LOVD
-?/. 1 - c.1201G>A r.(?) p.(Gly401Ser) - likely benign g.138603171C>T - KIAA1549(NM_020910.3):c.1201G>A (p.G401S) - KIAA1549_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1203T>C r.(?) p.(Gly401=) - likely benign g.138603169A>G - KIAA1549(NM_001164665.1):c.1203T>C (p.G401=) - KIAA1549_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1232C>T r.(?) p.(Pro411Leu) - VUS g.138603140G>A g.138918394G>A KIAA1549(NM_001164665.2):c.1232C>T (p.P411L) - KIAA1549_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1233G>A r.(?) p.(Pro411=) - benign g.138603139C>T g.138918393C>T KIAA1549(NM_001164665.2):c.1233G>A (p.P411=) - KIAA1549_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1266G>A r.(?) p.(Ala422=) - likely benign g.138603106C>T g.138918360C>T KIAA1549(NM_001164665.2):c.1266G>A (p.A422=) - KIAA1549_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1272C>T r.(?) p.(Cys424=) - likely benign g.138603100G>A - KIAA1549(NM_001164665.1):c.1272C>T (p.C424=) - KIAA1549_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 - c.1304C>T r.(1304c>u), r.(?) p.(Thr435Met) - likely pathogenic, likely pathogenic (recessive) g.138603068G>A g.138918322G>A - - KIAA1549_000122 - PubMed: Soens 2017, PubMed: Xu 2014 - rs368659824 Germline no 1/314 case chromosomes - - - LOVD
-?/. 2 - c.1323C>T r.(?) p.(Asp441=) - likely benign g.138603049G>A g.138918303G>A KIAA1549(NM_001164665.1):c.1323C>T (p.D441=), KIAA1549(NM_001164665.2):c.1323C>T (p.D441=) - KIAA1549_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.1344C>T r.(?) p.(Ala448=) - benign g.138603028G>A g.138918282G>A KIAA1549(NM_001164665.2):c.1344C>T (p.A448=) - KIAA1549_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1399G>A r.(?) p.(Val467Ile) - benign g.138602973C>T g.138918227C>T KIAA1549(NM_001164665.2):c.1399G>A (p.V467I) - KIAA1549_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.1456C>G r.(?) p.(Pro486Ala) - VUS g.138602916G>C g.138918170G>C - - KIAA1549_000086 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2718131 Germline - 110/1204 cases with retinitis pigmentosa, 7/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1477C>G r.(?) p.(Leu493Val) - VUS g.138602895G>C g.138918149G>C - - KIAA1549_000085 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs537387549 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.1508C>T r.(?) p.(Thr503Met) - benign g.138602864G>A g.138918118G>A KIAA1549(NM_001164665.2):c.1508C>T (p.T503M) - KIAA1549_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1550C>A r.(?) p.(Thr517Lys) - VUS g.138602822G>T g.138918076G>T - - KIAA1549_000084 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs780751915 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1562T>C r.(?) p.(Val521Ala) - VUS g.138602810A>G g.138918064A>G - - KIAA1549_000083 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs377033404 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1564C>T r.(?) p.(Pro522Ser) - VUS g.138602808G>A g.138918062G>A - - KIAA1549_000082 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.1580G>A r.(?) p.(Arg527His) - likely benign g.138602792C>T g.138918046C>T KIAA1549(NM_001164665.1):c.1580G>A (p.R527H) - KIAA1549_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1656C>T r.(?) p.(Ser552=) - benign, likely benign g.138602716G>A g.138917970G>A KIAA1549(NM_001164665.1):c.1656C>T (p.S552=), KIAA1549(NM_020910.3):c.1656C>T (p.S552=) - KIAA1549_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1746C>T r.(?) p.(Ala582=) - likely benign g.138602626G>A g.138917880G>A KIAA1549(NM_001164665.2):c.1746C>T (p.A582=) - KIAA1549_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1747G>A r.(?) p.(Val583Ile) - VUS g.138602625C>T g.138917879C>T - - KIAA1549_000081 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1198 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.1769C>T r.(?) p.(Thr590Met) - benign g.138602603G>A g.138917857G>A KIAA1549(NM_001164665.2):c.1769C>T (p.T590M) - KIAA1549_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1796_1797del r.(?) p.(Glu599Valfs*6) - pathogenic g.138602576_138602577del g.138917830_138917831del - - KIAA1549_000080 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 2 - c.1849A>G r.(?) p.(Arg617Gly) - VUS g.138602523T>C g.138917777T>C - - KIAA1549_000079 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2774962 Germline - 337/1204 cases with retinitis pigmentosa, 45/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.1906G>A r.(?) p.(Gly636Ser) - likely benign g.138602466C>T g.138917720C>T KIAA1549(NM_001164665.2):c.1906G>A (p.G636S) - KIAA1549_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1925C>T r.(?) p.(Ser642Leu) - likely benign g.138602447G>A - KIAA1549(NM_020910.3):c.1925C>T (p.S642L) - KIAA1549_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.1955C>T r.(?) p.(Pro652Leu) - VUS g.138602417G>A g.138917671G>A - - KIAA1549_000078 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2774960 Germline - 336/1204 cases with retinitis pigmentosa, 45/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 2 c.1993C>T r.(?) p.(Pro665Ser) - VUS g.138602379G>A g.138917633G>A C1993T - KIAA1549_000127 - PubMed: Katagiri 2014 - - Germline - - - - - LOVD
?/. 1 - c.2068A>G r.(?) p.(Asn690Asp) - VUS g.138602304T>C - KIAA1549(NM_001164665.1):c.2068A>G (p.N690D) - KIAA1549_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2105T>A r.(?) p.(Leu702Gln) - benign g.138602267A>T g.138917521A>T KIAA1549(NM_001164665.2):c.2105T>A (p.L702Q) - KIAA1549_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2132C>T r.(?) p.(Pro711Leu) - VUS g.138602240G>A g.138917494G>A - - KIAA1549_000077 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.2154A>G r.(?) p.(Pro718=) - likely benign g.138602218T>C - KIAA1549(NM_001164665.1):c.2154A>G (p.P718=) - KIAA1549_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2195C>T r.(?) p.(Ala732Val) - VUS g.138602177G>A g.138917431G>A - - KIAA1549_000076 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Xu 2014 - rs375118283 Germline - 1/1204 cases with retinitis pigmentosa, 1/314 case chromosomes - - - Yoshito Koyanagi
?/. 1 - c.2293G>A r.(?) p.(Ala765Thr) - VUS g.138602079C>T - KIAA1549(NM_001164665.1):c.2293G>A (p.A765T) - KIAA1549_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.2399_2400insAA r.(?) p.(Glu801Metfs*9) - pathogenic g.138601972_138601973insTT g.138917226_138917227insTT - - KIAA1549_000001 - PubMed: Abu-Safieh-2013 - - Unknown - - - - - Leen Abu Safieh
+?/. 1 - c.2419A>T r.(?) p.(Thr807Ser) - likely pathogenic (recessive) g.138601953T>A g.138917207T>A - - KIAA1549_000125 - PubMed: Xu 2014 - rs371582835 Germline - 1/314 case chromosomes - - - LOVD
?/. 3 - c.2525C>T r.(?) p.(Ala842Val) - VUS g.138601847G>A g.138917101G>A - - KIAA1549_000075 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Xu 2014 - rs202114551 Germline - 2/314 case chromosomes, 6/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 2 - c.2546C>T r.(?) p.(Ser849Leu) - VUS g.138601826G>A g.138917080G>A - - KIAA1549_000074 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2251220 Germline - 339/1204 cases with retinitis pigmentosa, 43/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.2632A>C r.(?) p.(Asn878His) - VUS g.138601740T>G g.138916994T>G - - KIAA1549_000073 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.2640C>T r.(?) p.(Ser880=) - likely benign g.138601732G>A g.138916986G>A KIAA1549(NM_001164665.2):c.2640C>T (p.S880=), KIAA1549(NM_020910.3):c.2640C>T (p.S880=) - KIAA1549_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2642C>T r.(?) p.(Thr881Met) - VUS g.138601730G>A g.138916984G>A - - KIAA1549_000072 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs138709216 Germline - 8/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.2689G>A r.(?) p.(Asp897Asn) - benign g.138601683C>T g.138916937C>T KIAA1549(NM_001164665.2):c.2689G>A (p.D897N) - KIAA1549_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2710G>A r.(?) p.(Ala904Thr) - VUS g.138601662C>T g.138916916C>T - - KIAA1549_000071 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs117908080 Germline - 47/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.2713G>C r.(?) p.(Ala905Pro) - benign g.138601659C>G g.138916913C>G KIAA1549(NM_001164665.2):c.2713G>C (p.A905P) - KIAA1549_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2765G>A r.(?) p.(Arg922His) - VUS g.138601607C>T g.138916861C>T - - KIAA1549_000070 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs762326899 Germline - 3/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/., -?/. 2 - c.2770G>A r.(?) p.(Val924Met) - benign, likely benign g.138601602C>T g.138916856C>T KIAA1549(NM_001164665.2):c.2770G>A (p.V924M, p.(Val924Met)) - KIAA1549_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
?/. 2 - c.2806C>T r.(?) p.(Pro936Ser) - VUS g.138601566G>A g.138916820G>A - - KIAA1549_000069 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Xu 2014 - rs534132672 Germline - 1/1204 cases with retinitis pigmentosa, 1/314 case chromosomes - - - Yoshito Koyanagi
?/. 1 - c.2857G>A r.(?) p.(Asp953Asn) - VUS g.138601515C>T - KIAA1549(NM_001164665.1):c.2857G>A (p.D953N) - KIAA1549_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2879-19G>T r.(=) p.(=) - likely benign g.138597225C>A g.138912479C>A KIAA1549(NM_001164665.2):c.2879-19G>T - KIAA1549_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.3009C>T r.(?) p.(Ser1003=) - likely benign g.138596028G>A - KIAA1549(NM_020910.3):c.3009C>T (p.S1003=) - KIAA1549_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3018C>G r.(?) p.(Phe1006Leu) - VUS g.138596019G>C g.138911273G>C - - KIAA1549_000068 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs369870112 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.3026C>T r.(?) p.(Thr1009Met) - likely benign g.138596011G>A g.138911265G>A KIAA1549(NM_001164665.2):c.3026C>T (p.T1009M) - KIAA1549_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.3052A>T r.(?) p.(Ile1018Leu) - benign g.138595985T>A g.138911239T>A KIAA1549(NM_001164665.2):c.3052A>T (p.I1018L) - KIAA1549_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3070C>T r.(?) p.(Arg1024Cys) - VUS g.138595967G>A g.138911221G>A - - KIAA1549_000067 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs745323375 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.3146T>A r.(?) p.(Val1049Glu) - likely benign g.138593867A>T g.138909121A>T KIAA1549(NM_001164665.2):c.3146T>A (p.V1049E) - KIAA1549_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3163C>T r.(?) p.(Pro1055Ser) - VUS g.138593850G>A g.138909104G>A KIAA1549(NM_001164665.2):c.3163C>T (p.P1055S) - KIAA1549_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 5 c.3164C>T r.(?) p.(Pro1055Leu) ACMG VUS g.138593849G>A g.138909103G>A c.3164C>T - KIAA1549_000128 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - rs368584498 Germline no - - - - LOVD
-?/. 1 - c.3277-14C>G r.(=) p.(=) - likely benign g.138591862G>C - KIAA1549(NM_001164665.2):c.3277-14C>G - KIAA1549_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3292A>C r.(?) p.(Ile1098Leu) - VUS g.138591833T>G g.138907087T>G - - KIAA1549_000066 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 2 - c.3317G>A r.(?) p.(Arg1106Gln) - VUS g.138591808C>T g.138907062C>T KIAA1549(NM_001164665.1):c.3317G>A (p.R1106Q), KIAA1549(NM_001164665.2):c.3317G>A (p.R1106Q) - KIAA1549_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.3317G>T r.(?) p.(Arg1106Leu) - VUS g.138591808C>A g.138907062C>A - - KIAA1549_000065 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs200423257 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.3367T>C r.(?) p.(Leu1123=) - likely benign g.138591758A>G - KIAA1549(NM_020910.3):c.3367T>C (p.L1123=) - KIAA1549_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.3450G>C r.(?) p.(Gln1150His) - VUS g.138591675C>G g.138906929C>G KIAA1549(NM_001164665.2):c.3450G>C (p.Q1150H, p.(Gln1150His)) - KIAA1549_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/. 1 - c.3453C>T r.(?) p.(Ile1151=) - benign g.138591672G>A g.138906926G>A KIAA1549(NM_001164665.2):c.3453C>T (p.I1151=) - KIAA1549_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.3465C>T r.(?) p.(Phe1155=) - likely benign g.138589823G>A - KIAA1549(NM_020910.3):c.3465C>T (p.F1155=) - KIAA1549_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3623G>A r.(?) p.(Arg1208Gln) - VUS g.138588380C>T g.138903634C>T - - KIAA1549_000064 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs768254181 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.3624G>T r.(?) p.(Arg1208=) - VUS g.138588379C>A g.138903633C>A KIAA1549(NM_001164665.2):c.3624G>T (p.R1208=) - KIAA1549_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.3684G>A r.(?) p.(Ser1228=) - benign g.138583864C>T g.138899118C>T KIAA1549(NM_001164665.2):c.3684G>A (p.S1228=) - KIAA1549_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.3783C>T r.(?) p.(Asn1261=) - likely benign g.138583765G>A g.138899019G>A KIAA1549(NM_001164665.1):c.3783C>T (p.N1261=) - KIAA1549_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3834T>C r.(?) p.(Gly1278=) - likely benign g.138583714A>G g.138898968A>G KIAA1549(NM_001164665.1):c.3834T>C (p.G1278=) - KIAA1549_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 3 - c.3875C>T r.(?) p.(Pro1292Leu) - benign, VUS g.138579245G>A g.138894499G>A KIAA1549(NM_001164665.1):c.3875C>T (p.P1292L), KIAA1549(NM_001164665.2):c.3875C>T (p.P1292L) - KIAA1549_000063 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs139052197 CLASSIFICATION record, Germline - 1/1204 cases with retinitis pigmentosa - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Yoshito Koyanagi
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