Unique variants in the IMPG2 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_016247.3 transcript reference sequence.

154 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.3423‐7_3423‐4del r.spl? p.? - pathogenic g.100948443_100948446del g.101229599_101229602del c.3423‐7_3423‐4delCTTT) - IMPG2_000001 - PubMed: Khan 2017 - - Germline - - - - - LOVD
?/. 1 - c.? r.spl p.(?) - VUS g.100961282_100963863del - IMPG2 chr3:100961282_100963863del - IMPG2_000140 del exons 13-14 of 19, unsolved PubMed: Zampaglione-2020 - - Unknown ? - - - - LOVD
-?/. 1 - c.-18C>A r.(?) p.(=) - likely benign g.101039234G>T g.101320390G>T IMPG2(NM_016247.3):c.-18C>A - IMPG2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.21T>G r.(?) p.(Phe7Leu) - VUS g.101039196A>C g.101320352A>C - - IMPG2_000059 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs193120038 Germline - 1/1204 cases with retinitis pigmentosa, 22/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.32C>A r.(?) p.(Ser11Tyr) - VUS g.101039185G>T g.101320341G>T IMPG2(NM_016247.3):c.32C>A (p.S11Y) - IMPG2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.57G>C r.(?) p.(Leu19=) - likely benign g.101039160C>G g.101320316C>G IMPG2(NM_016247.3):c.57G>C (p.L19=) - IMPG2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.68dup r.(?) p.(Asp23Glufs*29) - VUS g.101039149dup g.101320305dup 68dupA - IMPG2_000124 - PubMed: Ellingford 2016 - - Germline - - - - - LOVD
+?/. 1 - c.68_69dup r.(?) p.(Phe24Thrfs*5) - likely pathogenic g.101039148_101039149dup g.101320304_101320305dup IMPG2, variant 1: c.68_69dup/p.D23Efs*29, variant 2: c.68_69dup/p.D23Efs*29 - IMPG2_000157 1 more item PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
-?/. 1 - c.85+9A>T r.(=) p.(=) - likely benign g.101039123T>A g.101320279T>A IMPG2(NM_016247.3):c.85+9A>T - IMPG2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.89_92del r.(?) p.(Gln30Profs*5) - pathogenic g.101038672_101038675del g.101319828_101319831del - - IMPG2_000058 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.118G>T r.(?) p.(Glu40*) - pathogenic (recessive) g.101038644C>A - 3:101038644C>A ENST00000193391.7:c.118G>T (Glu40Ter) - IMPG2_000110 - PubMed: Carss 2017 - - Germline - - - - - LOVD
?/. 1 - c.176C>G r.(?) p.(Ala59Gly) - VUS g.101038586G>C g.101319742G>C - - IMPG2_000057 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 2 - c.188_191del r.(?) p.(Lys63Serfs*13) - likely pathogenic g.101038572_101038575del g.101319728_101319731del IMPG2, variant 1: c.188_191del/p.K63Sfs*13, variant 2: c.188_191del/p.K63Sfs*13 - IMPG2_000156 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - LOVD
+?/. 2 - c.189dup r.(?) p.(Gln64Thrfs*9) - likely pathogenic g.101038575dup g.101319731dup Allele 1 c.189dup (p.Gln64Thrfs*9), Allele 2 c.189dup (p.Gln64Thrfs*9) - IMPG2_000148 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - LOVD
+/. 1 - c.198_201dup r.(?) p.(Arg68Glyfs*6) - pathogenic g.101038561_101038564dup g.101319717_101319720dup - - IMPG2_000056 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.222G>A r.(?) p.(Gln74=) - likely benign g.101038540C>T g.101319696C>T IMPG2(NM_016247.3):c.222G>A (p.Q74=) - IMPG2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.256C>G r.(?) p.(Pro86Ala) - VUS g.101038506G>C g.101319662G>C - - IMPG2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.263G>T r.(?) p.(Gly88Val) - VUS g.101038499C>A g.101319655C>A - - IMPG2_000123 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
-?/. 1 - c.276C>T r.(?) p.(Cys92=) - likely benign g.101038486G>A g.101319642G>A IMPG2(NM_016247.3):c.276C>T (p.C92=) - IMPG2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.283G>A r.(?) p.(Glu95Lys) - VUS g.101038479C>T g.101319635C>T - - IMPG2_000122 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
?/. 1 - c.331C>T r.(?) p.(Arg111*) - VUS g.101038431G>A g.101319587G>A - - IMPG2_000118 - PubMed: Vincent 2017 - - Germline - - - - - LOVD
?/. 1 - c.332G>C r.(?) p.(Arg111Pro) - VUS g.101038430C>G g.101319586C>G - - IMPG2_000055 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.335-13C>T r.(=) p.(=) - benign g.101023169G>A g.101304325G>A IMPG2(NM_016247.3):c.335-13C>T - IMPG2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.359C>T r.(?) p.(Ala120Val) - VUS g.101023132G>A g.101304288G>A IMPG2(NM_016247.3):c.359C>T (p.A120V) - IMPG2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., ?/. 4 3 c.370T>C r.(?) p.(Phe124Leu) ACMG likely pathogenic, likely pathogenic (recessive), VUS g.101023121A>G g.101304277A>G allele 1: c.370T>C/p.F124L - IMPG2_000038 single heterozygous, VKGL data sharing initiative Nederland PubMed: Bandah-Rozenfeld 2010, PubMed: Sharon 2019, PubMed: Sharon 2019, PubMed: Weisschuh 2018 - - CLASSIFICATION record, Germline ? 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon, VKGL-NL_Nijmegen
+/., +?/. 5 3 c.379C>T r.(?) p.(Arg127*), p.(Arg127Ter) - likely pathogenic (recessive), pathogenic g.101023112G>A g.101304268G>A Arg127* 379G>A, c.379G>A, IMPG2(NM_016247.3):c.379C>T (p.R127*) - IMPG2_000002, IMPG2_000076 no variant 2nd chromosome, VKGL data sharing initiative Nederland PubMed: Boulanger-Scemama 2015, PubMed: Van Huet 2014, PubMed: Neveling 2012 - - CLASSIFICATION record, Germline yes - - - - Global Variome, with Curator vacancy, Kornelia Neveling, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.380G>C r.(?) p.(Arg127Pro) - likely pathogenic g.101023111C>G g.101304267C>G - - IMPG2_000127 - PubMed: Patel 2016 - - Germline - - - - - LOVD
?/. 1 - c.391C>T r.(?) p.(Arg131Cys) - VUS g.101023100G>A g.101304256G>A - - IMPG2_000054 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs150344327 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/., ?/. 2 - c.392G>A r.(?) p.(Arg131His) - likely benign, VUS g.101023099C>T g.101304255C>T IMPG2(NM_016247.3):c.392G>A (p.R131H) - IMPG2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 - c.411G>A r.(?) p.(Trp137*) - likely pathogenic g.101023080C>T g.101304236C>T - - IMPG2_000117 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+?/. 1 - c.455G>A r.(?) p.(Gly152Asp) - likely pathogenic g.101023036C>T g.101304192C>T IMPG2, variant 1: c.455G>A/p.G152D, variant 2: c.3142C>T/p.R1048W - IMPG2_000155 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
?/. 1 - c.470A>C r.(?) p.(Glu157Ala) - VUS g.101023021T>G g.101304177T>G IMPG2(NM_016247.3):c.470A>C (p.E157A) - IMPG2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.490T>C r.(?) p.(Leu164=) - benign g.101023001A>G g.101304157A>G IMPG2(NM_016247.3):c.490T>C (p.L164=) - IMPG2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.501+5G>A r.spl? p.(?) - likely pathogenic g.101022985C>T g.101304141C>T IMPG2, variant 1: c.501+5G>A/p.?, variant 2: c.501+5G>A/p.? - IMPG2_000154 possibly solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+/., +?/. 5 - c.513T>G r.(?) p.(Tyr171*), p.(Tyr171Ter) - likely pathogenic, pathogenic, pathogenic (recessive) g.101010343A>C g.101291499A>C Tyr171* - IMPG2_000035 VKGL data sharing initiative Nederland PubMed: Haer-Wigman 2017, PubMed: Patel 2016, PubMed: Van Huet 2014, PubMed: Van Huet 2015 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+?/. 2 - c.533+4_533+7del r.spl? p.(?) - likely pathogenic g.101010319_101010322del g.101291475_101291478del Allele 1 c.533+4_533+7del (p.?), Allele 2 c.533+4_533+7del (p.?), 1 more item - IMPG2_000147 homozygous, possibly solved, homozygous PubMed: Khan 2019, PubMed: Weisschuh 2020 - - Germline/De novo (untested), Unknown ? - - - - LOVD
+?/., -/. 3 - c.534-5dup r.spl? p.(?), p.? ACMG benign, likely pathogenic g.100995570dup g.101276726dup IMPG2 c.2890C>T, p.(Arg964*), c.534-5dup, p.(?), IMPG2(NM_016247.3):c.534-5dupT - IMPG2_000075 VKGL data sharing initiative Nederland PubMed: Jespersgaar 2019 - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 2 - c.534-4dup r.spl? p.(?), p.? ACMG VUS g.100995561dup g.101276717dup IMPG2: NM_016247.3 c.534-4dup, p.? - IMPG2_000053 heterozygous, individual unsolved, causality of variants unknown PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Rodriguez-Munoz 2020 - rs567795716 Germline ? 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.595A>G r.(?) p.(Ser199Gly) - VUS g.100994578T>C g.101275734T>C - - IMPG2_000138 - PubMed: Wang 2014 - rs147670488 Germline - - - - - LOVD
+?/. 1 - c.634del r.(?) p.(Ser212Glnfs*19) - likely pathogenic g.100994539del g.101275695del IMPG2, variant 1: c.634del/p.S212Qfs*19, variant 2: c.634del/p.S212Qfs*19 - IMPG2_000153 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+/. 1 6 c.635C>G r.(?) p.(Ser212*) - pathogenic (recessive) g.100994538G>C g.101275694G>C - - IMPG2_000037 - PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014, PubMed: Sharon 2019 - - Germline - - - - - Dror Sharon
+/. 2 6 c.636del r.(?) p.(Glu213Argfs*18) - pathogenic, pathogenic (recessive) g.100994537del g.101275693del 636delA, c.636delA - IMPG2_000106 - PubMed: Bocquet 2013, PubMed: Bocquet-2013 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.666+5G>A r.spl? p.(?) - likely pathogenic g.100994502C>T g.101275658C>T IMPG2, variant 1: c.3262C>T/p.R1088*, variant 2: c.666+5G>A/p.? - IMPG2_000152 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
-/. 2 - c.666+10G>A r.(=) p.(=) - benign g.100994497C>T g.101275653C>T IMPG2(NM_016247.4):c.666+10G>A - IMPG2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 2 - c.676G>T r.(?) p.(Glu226*) - pathogenic, pathogenic (dominant) g.100992577C>A g.101273733C>A IMPG2(NM_016247.4):c.676G>T (p.E226*) - IMPG2_000105 VKGL data sharing initiative Nederland PubMed: Brandl 2017 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
+?/. 1 - c.727G>C r.(?) p.(Ala243Pro) - likely pathogenic (dominant) g.100992526C>G g.101273682C>G - - IMPG2_000104 - PubMed: Brandl 2017 - - Germline - - - - - Johan den Dunnen
+?/., -?/., ?/. 5 - c.745C>T r.(?) p.(Leu249Phe) - likely benign, likely pathogenic, VUS g.100992508G>A g.101273664G>A IMPG2(NM_016247.3):c.745C>T (p.L249F), 1 more item - IMPG2_000023 solved, compound heterozygous, VKGL data sharing initiative Nederland PubMed: Stone 2017, PubMed: Weisschuh 2020 - - CLASSIFICATION record, Germline, Unknown ? - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.826G>T r.(?) p.(Glu276*) - likely pathogenic (recessive) g.100992427C>A g.101273583C>A - - IMPG2_000093 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - Global Variome, with Curator vacancy
+/. 2 - c.828+1G>A r.spl p.(?), p.? ACMG pathogenic, pathogenic (recessive) g.100992424C>T g.101273580C>T IMPG2 c.828+1G>A, Splice - IMPG2_000092 - PubMed: Kim 2019, PubMed: Kim 2019 - - Germline ? 1/86 cases - - - Global Variome, with Curator vacancy
-/. 1 - c.828+20dup r.(=) p.(=) - benign g.100992414dup g.101273570dup IMPG2(NM_016247.3):c.828+20dupA - IMPG2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.829-1G>T r.spl p.? - pathogenic g.100988418C>A g.101269574C>A - - IMPG2_000136 - PubMed: Zhao 2015 - - Germline - - - - - LOVD
?/. 1 - c.871C>G r.(?) p.(Arg291Gly) - VUS g.100988375G>C g.101269531G>C - - IMPG2_000052 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 8i_9i c.887+430_908+274del r.888_908del p.Arg296_Asp302del - pathogenic (recessive) g.100986081_100987929del - - - IMPG2_000094 - PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.909-802_1154-539del r.909_1153del p(?) ACMG pathogenic (recessive) g.100973166_100977421del g.101254322_101258577del NM_016247.3:c.909-802 1154-539del; - IMPG2_000141 - PubMed: Patel 2018 - - Germline yes - - - - LOVD
+?/. 1 - c.911G>A r.(?) p.(Gly304Asp) ACMG likely pathogenic g.100976615C>T g.101257771C>T IMPG2 c.911G>A, p.(Gly304Asp) - IMPG2_000144 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
?/. 1 - c.926A>G r.(?) p.(Tyr309Cys) - VUS g.100976600T>C g.101257756T>C - - IMPG2_000121 - PubMed: Tiwari 2016 - - Germline - - - - - LOVD
?/. 1 - c.952A>G r.(?) p.(Ile318Val) - VUS g.100976574T>C g.101257730T>C - - IMPG2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1045del r.(?) p.(Tyr349Ilefs*25) - likely pathogenic g.100976483del g.101257639del IMPG2, variant 1: c.745C>T p.L249F, variant 2: c.1045del/p.Y349Ifs*25 - IMPG2_000151 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
+?/. 1 - c.1100dup r.(?) p.(Leu367Phefs*12) - likely pathogenic g.100976431dup g.101257587dup 1094_1095insT - IMPG2_000116 - PubMed: Stone 2017 - - Germline - - - - - LOVD
+?/. 1 - c.1135T>C r.(?) p.(Ser379Pro) - likely pathogenic (recessive) g.100976391A>G - Ser379Pro - IMPG2_000098 - PubMed: Van Huet 2014 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1140G>A r.(?) p.(Leu380=) - benign g.100976386C>T g.101257542C>T IMPG2(NM_016247.3):c.1140G>A (p.L380=) - IMPG2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.1151A>G r.(?) p.(Asn384Ser) - likely benign, VUS g.100976375T>C g.101257531T>C IMPG2(NM_016247.3):c.1151A>G (p.N384S) - IMPG2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 - c.1153+5G>T r.(?) p.? - likely pathogenic g.100976368C>A g.101257524C>A - - IMPG2_000115 - PubMed: Stone 2017 - - Germline - - - - - LOVD
-?/., ?/. 2 - c.1169G>A r.(?) p.(Arg390His) - likely benign, VUS g.100972610C>T g.101253766C>T IMPG2(NM_016247.3):c.1169G>A (p.R390H) - IMPG2_000051 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs139255481 CLASSIFICATION record, Germline - 16/1204 cases with retinitis pigmentosa - - - VKGL-NL_AMC, Yoshito Koyanagi
?/. 1 - c.1187T>C r.(?) p.(Leu396Pro) - VUS g.100972592A>G g.101253748A>G - - IMPG2_000050 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs773850021 Germline - 3/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 2 - c.1219G>T r.(?) p.(Ala407Ser) - VUS g.100972560C>A g.101253716C>A - - IMPG2_000049 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Wang 2014 - rs199986912 Germline - 25/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1240-3C>A r.spl? p.? - VUS g.100964952G>T g.101246108G>T IMPG2(NM_016247.3):c.1240-3C>A - IMPG2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1263G>A r.(?) p.(Trp421*) - pathogenic g.100964926C>T g.101246082C>T - - IMPG2_000048 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 2 - c.1300C>T r.(?) p.(Pro434Ser) - VUS g.100964889G>A g.101246045G>A IMPG2(NM_016247.3):c.1300C>T (p.P434S) - IMPG2_000070 VKGL data sharing initiative Nederland PubMed: Tiwari 2016 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC
?/. 1 - c.1301_1303del r.(?) p.(Pro434del) - VUS g.100964890_100964892del g.101246046_101246048del IMPG2(NM_016247.3):c.1301_1303delCAC (p.P434del) - IMPG2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 - c.1382C>G r.(?) p.(Thr461Arg) - likely pathogenic (recessive), VUS g.100964807G>C g.101245963G>C - - IMPG2_000047 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Xu 2014 - rs201905772 Germline - 1/314 case chromosomes, 8/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 1 12 c.1483C>T r.(?) p.(Gln495*) - likely pathogenic g.100964706G>A g.101245862G>A 1 more item - IMPG2_000146 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - LOVD
-/., -?/. 2 - c.1495C>A r.(?) p.(Pro499Thr) - benign, likely benign g.100964694G>T g.101245850G>T IMPG2(NM_016247.3):c.1495C>A (p.P499T) - IMPG2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1514G>C r.(?) p.(Arg505Thr) - VUS g.100964675C>G g.101245831C>G - - IMPG2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1544-20A>C r.(=) p.(=) - likely benign g.100963651T>G g.101244807T>G IMPG2(NM_016247.3):c.1544-20A>C - IMPG2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1565C>G r.(?) p.(Ser522*) - pathogenic (dominant) g.100963610G>C g.101244766G>C - - IMPG2_000103 - PubMed: Brandl 2017 - - Germline - - - - - Johan den Dunnen
?/. 3 - c.1582A>G r.(?) p.(Ile528Val) - VUS g.100963593T>C g.101244749T>C IMPG2(NM_016247.3):c.1582A>G (p.I528V) - IMPG2_000018 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Xu 2014 - rs142710242 CLASSIFICATION record, Germline - 1/314 case chromosomes, 7/1204 cases with retinitis pigmentosa - - - VKGL-NL_Rotterdam, Yoshito Koyanagi
+/. 2 - c.1589C>A r.(?) p.(Ser530*) - pathogenic g.100963586G>T g.101244742G>T IMPG2(NM_016247.3):c.1589C>A (p.S530*) - IMPG2_000126 VKGL data sharing initiative Nederland PubMed: Ge 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1595C>T r.(?) p.(Pro532Leu) - VUS g.100963580G>A - IMPG2(NM_016247.3):c.1595C>T (p.P532L) - IMPG2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 2 13 c.1658del r.(?) p.(Val553Glyfs*3) - likely pathogenic g.100963517del g.101244673del 1658delT, IMPG2 Ex.13 c.1658del p.(Val553Glyfs*3), Ex.13 c.1658del p.(Val553Glyfs*3) - IMPG2_000114 homozygous PubMed: Martin Merida 2019, PubMed: Stone 2017 - - Germline yes - - - - LOVD
?/. 1 - c.1679A>T r.(?) p.(Tyr560Phe) - VUS g.100963496T>A g.101244652T>A - - IMPG2_000137 - PubMed: Wang 2014 - rs144565223 Germline - - - - - LOVD
+/., +?/. 6 - c.1680T>A r.(?) p.(Tyr560*) - likely pathogenic, pathogenic, pathogenic (recessive) g.100963495A>T g.101244651A>T 3:100963495A>T ENST00000193391.7:c.1680T>A (Tyr560Ter), IMPG2 c.1680T>A, p.Tyr560Ter - IMPG2_000096 homozygous PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014, PubMed: Carss 2017, PubMed: Ellingford 2016, 1 more item - - Germline, Germline/De novo (untested) ?, yes - - - - Johan den Dunnen
?/. 1 - c.1837A>G r.(?) p.(Thr613Ala) - VUS g.100963338T>C g.101244494T>C - - IMPG2_000135 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - LOVD
-/. 1 - c.1893G>A r.(?) p.(Pro631=) - benign g.100963282C>T g.101244438C>T IMPG2(NM_016247.3):c.1893G>A (p.P631=) - IMPG2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 13 c.1963del r.spl p.(Met655Trpfs*46) ACMG pathogenic g.100963215del g.101244371del - - IMPG2_000139 - Tracewska 2021, MolVis in press - - Germline - 0 (in-house database, ~5000 samples) - - - LOVD
-/. 4 - c.2021C>T r.(?) p.(Thr674Ile) - benign g.100963154G>A g.101244310G>A IMPG2(NM_016247.4):c.2021C>T (p.T674I) - IMPG2_000016 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs571391 CLASSIFICATION record, Germline - 471/1204 cases with retinitis pigmentosa, 577/1204 cases with retinitis pigmentosa - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Yoshito Koyanagi
+/. 2 13 c.2038del r.(?) p.(Glu680Serfs*21) ACMG pathogenic, pathogenic (recessive) g.100963137del g.101244293del 2038delG - IMPG2_000062 ACMG PVS1, PM2, PM3, PP1, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen, Juan Carlos Zenteno
?/. 1 13 c.2050G>M r.(?) p.(Gly684Arg) - VUS g.100963125C>K - p.IMPG2-G684R - IMPG2_000142 - PubMed: Schorderet-2013 - - Unknown no - - - - LOVD
-?/. 1 - c.2056G>A r.(?) p.(Ala686Thr) - likely benign g.100963119C>T g.101244275C>T IMPG2(NM_016247.3):c.2056G>A (p.A686T) - IMPG2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2071G>A r.(?) p.(Ala691Thr) - VUS g.100963104C>T g.101244260C>T - - IMPG2_000046 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs147163766 Germline - 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.2073del r.(?) p.(Asp692IlefsTer9) - pathogenic g.100963102del g.101244258del - - IMPG2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2094G>A r.(?) p.(Ala698=) - likely benign g.100963081C>T g.101244237C>T IMPG2(NM_016247.3):c.2094G>A (p.A698=) - IMPG2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 13 c.2143del r.(?) p.(Tyr715Thrfs*10) ACMG likely pathogenic, pathogenic (recessive) g.100963032del, g.100963033del g.101244189del c.2143del, c.2143delT, p.Tyr715Thrfs*10 - IMPG2_000143 Homozygous PubMed: Birtel 2018, PubMed: Colombo-2020 - - Germline ? - - - - LOVD
+?/. 1 - c.2206T>C r.(?) p.(Ser736Pro) - likely pathogenic (recessive) g.100962969A>G g.101244125A>G - - IMPG2_000134 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - LOVD
+/., +?/. 7 - c.2274G>A r.(?) p.(Trp758*), p.(Trp758Ter) ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.100962901C>T g.101244057C>T NM_016247.3:c.2274G>A; p.(Trp758*) - IMPG2_000091 - PubMed: Patel 2016, PubMed: Patel 2018, PubMed: Sharon 2019 - - Germline yes 1/2420 IRD families, 2/2420 IRD families - - - Global Variome, with Curator vacancy
?/. 1 - c.2315C>A r.(?) p.(Thr772Asn) - VUS g.100962860G>T g.101244016G>T IMPG2(NM_016247.3):c.2315C>A (p.T772N) - IMPG2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 3 13 c.2346_2347del r.(?) p.(Arg782Serfs*24), p.(Arg782SerfsTer24) - likely pathogenic, pathogenic g.100962834_100962835del g.101243990_101243991del - - IMPG2_000003 - PubMed: Abu-Safieh-2013, PubMed: Patel 2016 - - Germline - - - - - Leen Abu Safieh
+?/., ?/. 3 - c.2412_2413del r.(?) p.(Ala805*) - likely pathogenic, VUS g.100962763_100962764del g.101243919_101243920del 2411_2412delGT, 2412_2413delTG - IMPG2_000113 - PubMed: Ellingford 2016, PubMed: Stone 2017 - - Germline - - - - - LOVD
+/. 1 - c.2426G>A r.(?) p.(Trp809*) - pathogenic (recessive) g.100962749C>T - 3:100962749C>T ENST00000193391.7:c.2426G>A (Trp809Ter) - IMPG2_000109 - PubMed: Carss 2017 - - Germline - - - - - LOVD
?/. 2 - c.2431T>G r.(?) p.(Ser811Ala) - VUS g.100962744A>C g.101243900A>C - - IMPG2_000045 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs76048775 Germline - 1/1204 cases with retinitis pigmentosa, 17/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
Legend   How to query   « First ‹ Prev     1 2     Next › Last »