All variants in the TOPORS gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005802.4 transcript reference sequence.

200 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
+?/. - c.23G>C r.(?) p.(Gly8Ala) - likely pathogenic g.32550947C>G g.32550949C>G - - TOPORS_000059 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - LOVD
-/. 2 c.58C>T r.(?) p.(Pro20Ser) - benign g.32550912G>A g.32550914G>A - - TOPORS_000002 not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-/. 2 c.58C>T r.(?) p.(Pro20Ser) - benign g.32550912G>A g.32550914G>A - - TOPORS_000002 not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-/. 2 c.58C>T r.(?) p.(Pro20Ser) - benign g.32550912G>A g.32550914G>A - - TOPORS_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-/. 2 c.58C>T r.(?) p.(Pro20Ser) - benign g.32550912G>A g.32550914G>A - - TOPORS_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-/. 2 c.58C>T r.(?) p.(Pro20Ser) - benign g.32550912G>A g.32550914G>A - - TOPORS_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline yes - - - - Kornelia Neveling
-/. 2 c.58C>T r.(?) p.(Pro20Ser) - benign g.32550912G>A g.32550914G>A - - TOPORS_000002 predicted benign; not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-/. 2 c.58C>T r.(?) p.(Pro20Ser) - benign g.32550912G>A g.32550914G>A - - TOPORS_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-?/. - c.58C>T r.(?) p.(Pro20Ser) - likely benign g.32550912G>A g.32550914G>A - - TOPORS_000002 30 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112527210 Germline - 30/2791 individuals - - - Mohammed Faruq
+?/. - c.74C>G r.(?) p.(Ser25Trp) - likely pathogenic g.32550896G>C g.32550898G>C - - TOPORS_000064 - PubMed: Wang 2014 - - Germline - - - - - LOVD
-/. - c.153G>A r.(?) p.(Glu51=) - benign g.32550817C>T g.32550819C>T TOPORS(NM_005802.5):c.153G>A (p.E51=) - NDUFB6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.159G>C r.(?) p.(Ala53=) - likely benign g.32550811C>G g.32550813C>G TOPORS(NM_005802.4):c.159G>C (p.A53=) - NDUFB6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.164G>A r.(?) p.(Ser55Asn) - VUS g.32550806C>T g.32550808C>T - - TOPORS_000025 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.199-9C>T r.(=) p.(=) - likely benign g.32544333G>A g.32544335G>A TOPORS(NM_005802.5):c.199-9C>T - TOPORS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.352C>T r.(?) p.(Arg118Cys) - VUS g.32544171G>A - TOPORS(NM_005802.5):c.352C>T (p.R118C) - TOPORS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.489A>G r.(?) p.(Leu163=) - likely benign g.32544034T>C g.32544036T>C TOPORS(NM_005802.5):c.489A>G (p.L163=) - TOPORS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.503A>G r.(?) p.(Asn168Ser) - VUS g.32544020T>C g.32544022T>C TOPORS(NM_005802.4):c.503A>G (p.N168S) - TOPORS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.543T>C r.(?) p.(Arg181=) - likely benign g.32543980A>G g.32543982A>G TOPORS(NM_005802.5):c.543T>C (p.R181=) - TOPORS_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.576G>T r.(?) p.(=) - likely benign g.32543947C>A - TOPORS(NM_005802.5):c.576G>T (p.V192=) - TOPORS_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.671A>G r.(?) p.(Asp224Gly) - VUS g.32543852T>C g.32543854T>C TOPORS(NM_005802.5):c.671A>G (p.D224G) - TOPORS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 3 c.671A>G r.(?) p.(Asp224Gly) - VUS g.32543852T>C - c.671A>G - TOPORS_000038 - PubMed: Chen-2013 - rs147071021 Unknown - - - - - LOVD
?/. 3 c.671A>G r.(?) p.(Asp224Gly) - VUS g.32543852T>C - c.671A>G - TOPORS_000038 - PubMed: Chen-2013 - rs147071021 Unknown - - - - - LOVD
-?/. - c.814A>G r.(?) p.(Ile272Val) - likely benign g.32543709T>C g.32543711T>C TOPORS(NM_005802.4):c.814A>G (p.I272V) - TOPORS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.814A>G r.(?) p.(Ile272Val) - VUS g.32543709T>C g.32543711T>C - - TOPORS_000037 - PubMed: Wang 2014 - rs115436019 Germline - - - - - LOVD
-?/. - c.858C>T r.(?) p.(Phe286=) - likely benign g.32543665G>A - TOPORS(NM_005802.5):c.858C>T (p.F286=) - TOPORS_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.881A>G r.(?) p.(His294Arg) ACMG VUS g.32543642T>C g.32543644T>C TOPORS:NM_005802 c.A881G, p.H294R - TOPORS_000073 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
+?/. - c.905_917del r.(?) p.(Arg302LeufsTer9) - likely pathogenic g.32543606_32543618del g.32543608_32543620del - - TOPORS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.961A>G r.(?) p.(Ile321Val) - VUS g.32543562T>C g.32543564T>C - - TOPORS_000024 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1079G>A r.(?) p.(Arg360Gln) - VUS g.32543444C>T g.32543446C>T TOPORS(NM_005802.5):c.1079G>A (p.R360Q) - TOPORS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G - - - TOPORS_000049 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - Global Variome, with Curator vacancy
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205a>c, p.Q402P - TOPORS_000049 heterozygous PubMed: Selmer 2010 - - Germline yes 0/207 healthy control subjects of Norwegian origin - - - LOVD
+?/. 3 c.1205A>C r.(?) p.(Gln402Pro) - likely pathogenic g.32543318T>G g.32543320T>G TOPORS c.1205A>C/p.Q402P - TOPORS_000049 heterozygous PubMed: Schob 2009 - - Germline yes - - - - LOVD
?/. - c.1205A>C r.(?) p.(Gln402Pro) ACMG VUS g.32543318T>G g.32543320T>G - - TOPORS_000049 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.1214A>G r.(?) p.(Asp405Gly) - VUS g.32543309T>C g.32543311T>C TOPORS(NM_005802.5):c.1214A>G (p.D405G) - TOPORS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1222G>A r.(?) p.(Val408Ile) - VUS g.32543301C>T - TOPORS(NM_005802.4):c.1222G>A (p.V408I) - TOPORS_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1238A>C r.(?) p.(Gln413Pro) - VUS g.32543285T>G g.32543287T>G TOPORS(NM_005802.4):c.1238A>C (p.Q413P), TOPORS(NM_005802.5):c.1238A>C (p.Q413P) - TOPORS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1238A>C r.(?) p.(Gln413Pro) - VUS g.32543285T>G g.32543287T>G - - TOPORS_000009 - PubMed: Wang 2014 - rs61758062 Germline - - - - - LOVD
-?/. - c.1238A>C r.(?) p.(Gln413Pro) - likely benign g.32543285T>G - TOPORS(NM_005802.4):c.1238A>C (p.Q413P), TOPORS(NM_005802.5):c.1238A>C (p.Q413P) - TOPORS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1373T>C r.(?) p.(Ile458Thr) - likely benign g.32543150A>G - TOPORS(NM_005802.4):c.1373T>C (p.I458T) - TOPORS_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1389C>T r.(?) p.(Thr463=) - likely benign g.32543134G>A g.32543136G>A TOPORS(NM_005802.4):c.1389C>T (p.T463=) - TOPORS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1537G>C r.(?) p.(Val513Leu) - VUS g.32542986C>G g.32542988C>G - - TOPORS_000061 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - LOVD
-/. - c.1560A>G r.(?) p.(Gln520=) - benign g.32542963T>C g.32542965T>C TOPORS(NM_005802.4):c.1560A>G (p.Q520=), TOPORS(NM_005802.5):c.1560A>G (p.Q520=) - TOPORS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1560A>G r.(?) p.(Gln520=) - likely benign g.32542963T>C g.32542965T>C TOPORS(NM_005802.4):c.1560A>G (p.Q520=), TOPORS(NM_005802.5):c.1560A>G (p.Q520=) - TOPORS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1693T>C r.(?) p.(Ser565Pro) - likely benign g.32542830A>G - TOPORS(NM_005802.4):c.1693T>C (p.S565P) - TOPORS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1720C>G r.(?) p.(Leu574Val) - likely benign g.32542803G>C g.32542805G>C TOPORS(NM_005802.5):c.1720C>G (p.L574V) - TOPORS_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1722G>A r.(?) p.(Leu574=) - benign g.32542801C>T g.32542803C>T TOPORS(NM_005802.4):c.1722G>A (p.L574=) - TOPORS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 c.1730C>A r.(?) p.(Ser577Tyr) - likely benign g.32542793G>T g.32542795G>T - - TOPORS_000001 predicted to affect function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline - - - - - Kornelia Neveling
+/. 3 c.1730C>A r.(?) p.(Ser577Tyr) - pathogenic g.32542793G>T g.32542795G>T - - TOPORS_000001 predicted to affect function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline yes - - - - Kornelia Neveling
-?/. - c.1730C>A r.(?) p.(Ser577Tyr) - likely benign g.32542793G>T - TOPORS(NM_005802.4):c.1730C>A (p.S577Y) - TOPORS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1730C>A r.(?) p.(Ser577Tyr) - likely benign g.32542793G>T g.32542795G>T - - TOPORS_000001 - PubMed: Fernandez-San Jose 2015 - rs79708790 Germline - - - - - LOVD
+?/. 3 c.1818T>G r.(?) p.(Ser606Arg) - likely pathogenic g.32542705A>C g.32542707A>C TOPORS c.1818T>G/p.S606R - TOPORS_000081 heterozygous PubMed: Schob 2009 - - Germline yes - - - - LOVD
+?/. 3 c.1818T>G r.(?) p.(Ser606Arg) - likely pathogenic g.32542705A>C g.32542707A>C TOPORS c.1818T>G/p.S606R - TOPORS_000081 heterozygous PubMed: Schob 2009 - - Germline yes - - - - LOVD
?/. - c.1845T>G r.(?) p.(His615Gln) - VUS g.32542678A>C g.32542680A>C - - TOPORS_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1849A>C r.(?) p.(Lys617Gln) - VUS g.32542674T>G g.32542676T>G - - TOPORS_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs191872498 Germline - 7/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. - c.1849A>C r.(?) p.(Lys617Gln) - VUS g.32542674T>G g.32542676T>G - - TOPORS_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs191872498 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. - c.1857T>A r.(?) p.(His619Gln) - likely pathogenic g.32542666A>T g.32542668A>T - - TOPORS_000062 - PubMed: Zhao 2015 - - Germline - - - - - LOVD
-?/. - c.1977T>C r.(?) p.(Thr659=) - likely benign g.32542546A>G - TOPORS(NM_005802.4):c.1977T>C (p.T659=) - TOPORS_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2047C>T r.(?) p.(Arg683Trp) - likely pathogenic g.32542476G>A g.32542478G>A - - TOPORS_000056 - PubMed: Huang 2018 - - Germline - - - - - LOVD
?/. 3 c.2078G>T r.(?) p.(Arg693Ile) - VUS g.32542445C>A - c.2078G>T:p.R693I - TOPORS_000077 - PubMed: Numa-2020 - - Unknown - - - - - LOVD
-?/. - c.2103A>G r.(?) p.(Lys701=) - likely benign g.32542420T>C - TOPORS(NM_005802.4):c.2103A>G (p.K701=) - TOPORS_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2129A>T r.(?) p.(Asn710Ile) ACMG VUS g.32542394T>A g.32542396T>A - - TOPORS_000086 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
+?/. - c.2141A>G r.(?) p.(Asp714Gly) - likely pathogenic g.32542382T>C g.32542384T>C 1946A>G (D649G) - TOPORS_000058 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - LOVD
?/. - c.2144G>C r.(?) p.(Gly715Ala) ACMG VUS g.32542379C>G g.32542381C>G - - TOPORS_000085 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen
-?/. - c.2160C>T r.(?) p.(Tyr720=) - likely benign g.32542363G>A g.32542365G>A TOPORS(NM_005802.4):c.2160C>T (p.Y720=), TOPORS(NM_005802.5):c.2160C>T (p.Y720=) - TOPORS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2160C>T r.(?) p.(Tyr720=) - likely benign g.32542363G>A g.32542365G>A TOPORS(NM_005802.4):c.2160C>T (p.Y720=), TOPORS(NM_005802.5):c.2160C>T (p.Y720=) - TOPORS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2245A>G r.(?) p.(Asn749Asp) - likely benign g.32542278T>C g.32542280T>C - - TOPORS_000045 26 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17857515 Germline - 26/2792 individuals - - - Mohammed Faruq
?/. 3 c.2264A>G r.(?) p.(Asn755Ser) - VUS g.32542259T>C - c.2264A>G - TOPORS_000067 - PubMed: Sullivan-2013 - - Unknown - - - - - LOVD
-?/. - c.2314C>T r.(?) p.(Leu772=) - likely benign g.32542209G>A g.32542211G>A TOPORS(NM_005802.4):c.2314C>T (p.L772=), TOPORS(NM_005802.5):c.2314C>T (p.L772=) - TOPORS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2314C>T r.(?) p.(Leu772=) - likely benign g.32542209G>A g.32542211G>A TOPORS(NM_005802.4):c.2314C>T (p.L772=), TOPORS(NM_005802.5):c.2314C>T (p.L772=) - TOPORS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2320A>G r.(?) p.(Ser774Gly) - VUS g.32542203T>C g.32542205T>C TOPORS(NM_005802.5):c.2320A>G (p.S774G) - TOPORS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.2349G>A r.(?) p.(Gly783=) - likely benign g.32542174C>T - TOPORS(NM_005802.5):c.2349G>A (p.G783=) - TOPORS_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2369A>G r.(?) p.(Glu790Gly) - VUS g.32542154T>C g.32542156T>C - - TOPORS_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs752030562 Germline - 4/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 3 c.2420dup r.(?) p.(Asn807Lysfs*9) ACMG pathogenic g.32542104dup g.32542106dup TOPORS c.2420dupA, p.(N807Kfs*9) - TOPORS_000076 - PubMed: Xiao-2021 - - Unknown ? - - - - LOVD
+/. - c.2422G>T r.(?) p.(Glu808*) - pathogenic g.32542101C>A g.32542103C>A - - TOPORS_000020 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 3 c.2422G>T r.(?) p.(Glu808*) - likely pathogenic g.32542101C>A g.32542103C>A TOPORS p.Glu808X (c.2422C>T) - TOPORS_000020 error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous PubMed: Bowne 2008 - - Germline yes - - - - LOVD
+?/. 3 c.2422G>T r.(?) p.(Glu808*) - likely pathogenic g.32542101C>A g.32542103C>A TOPORS p.Glu808X (c.2422C>T) - TOPORS_000020 error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous PubMed: Bowne 2008 - - Germline yes - - - - LOVD
+?/. 3 c.2422G>T r.(?) p.(Glu808*) - likely pathogenic g.32542101C>A g.32542103C>A TOPORS p.Glu808X (c.2422C>T) - TOPORS_000020 error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous PubMed: Bowne 2008 - - Germline yes - - - - LOVD
+?/. 3 c.2422G>T r.(?) p.(Glu808*) - likely pathogenic g.32542101C>A g.32542103C>A TOPORS p.Glu808X (c.2422C>T) - TOPORS_000020 error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous PubMed: Bowne 2008 - - Germline yes - - - - LOVD
+?/. 3 c.2422G>T r.(?) p.(Glu808*) - likely pathogenic g.32542101C>A g.32542103C>A TOPORS p.Glu808X (c.2422C>T) - TOPORS_000020 error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous PubMed: Bowne 2008 - - Germline yes - - - - LOVD
+?/. 3 c.2422G>T r.(?) p.(Glu808*) - likely pathogenic g.32542101C>A g.32542103C>A TOPORS p.Glu808X (c.2422C>T) - TOPORS_000020 error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous PubMed: Bowne 2008 - - Germline yes - - - - LOVD
+?/. 3 c.2422G>T r.(?) p.(Glu808*) - likely pathogenic g.32542101C>A g.32542103C>A TOPORS p.Glu808X (c.2422C>T) - TOPORS_000020 error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous PubMed: Bowne 2008 - - Germline yes - - - - LOVD
-?/. - c.2434C>T r.(?) p.(Pro812Ser) - likely benign g.32542089G>A - TOPORS(NM_005802.4):c.2434C>T (p.P812S) - TOPORS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.2439_2440del r.(?) p.(Arg814*) ACMG pathogenic g.32542085_32542086del g.32542087_32542088del - - TOPORS_000065 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - LOVD
+/. 3 c.2439_2440del r.(?) p.(Arg814*) ACMG pathogenic g.32542085_32542086del g.32542087_32542088del - - TOPORS_000065 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - LOVD
?/. - c.2440C>T r.(?) p.(Arg814Cys) - VUS g.32542083G>A g.32542085G>A - - TOPORS_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs539334628 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. - c.2452_2453insA r.(?) p.(Ser818Tyrfs*2) - pathogenic g.32542070_32542071insT g.32542072_32542073insT - - TOPORS_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. - c.2467A>G r.(?) p.(Ser823Gly) - likely benign g.32542056T>C g.32542058T>C TOPORS(NM_005802.4):c.2467A>G (p.S823G) - TOPORS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2474dup r.(?) p.(Tyr825*) - pathogenic (dominant) g.32542049dup g.32542051dup 2474dupA - TOPORS_000054 - PubMed: Wang 2017 - - Germline - - - - - LOVD
+/. 3 c.2474dup r.(?) p.(Tyr825Ter) - pathogenic (dominant) g.32542049dup g.32542051dup 2474_2475insA - TOPORS_000054 not in 192 controls PubMed: Coussa 2015 - - Germline - 2/60 cases - - - LOVD
+/. 3 c.2474dup r.(?) p.(Tyr825Ter) - pathogenic (dominant) g.32542049dup g.32542051dup 2474_2475insA - TOPORS_000054 not in 192 controls PubMed: Coussa 2015 - - Germline - 2/60 cases - - - LOVD
+?/. 3 c.2474dup r.(?) p.(Tyr825*) - likely pathogenic g.32542049dup - c.2474dup - TOPORS_000054 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
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