Full data view for gene IMPG2

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.

259 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.3423‐7_3423‐4del r.spl? p.? Parent #2 - pathogenic g.100948443_100948446del g.101229599_101229602del c.3423‐7_3423‐4delCTTT) - IMPG2_000001 - PubMed: Khan 2017 - - Germline - - - 0 - DNA SEQ-NG - 105-gene panel retinal disease 29709 PubMed: Khan 2017 see paper - - United Kingdom (Great Britain) - - 0 - - 1 LOVD
?/. - c.? r.spl p.(?) Unknown - VUS g.100961282_100963863del - IMPG2 chr3:100961282_100963863del - IMPG2_000140 del exons 13-14 of 19, unsolved PubMed: Zampaglione-2020 - - Unknown ? - - 0 - DNA SEQ-NG-I, PCRq blood - retinal disease 121-038 PubMed: Zampaglione-2020 - ? - - - - 0 - - 1 LOVD
-?/. - c.-18C>A r.(?) p.(=) Unknown - likely benign g.101039234G>T g.101320390G>T IMPG2(NM_016247.3):c.-18C>A - IMPG2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.21T>G r.(?) p.(Phe7Leu) Unknown - VUS g.101039196A>C g.101320352A>C - - IMPG2_000059 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs193120038 Germline - 22/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 22 Yoshito Koyanagi
?/. - c.21T>G r.(?) p.(Phe7Leu) Both (homozygous) - VUS g.101039196A>C g.101320352A>C - - IMPG2_000059 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs193120038 Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
?/. - c.32C>A r.(?) p.(Ser11Tyr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.57G>C r.(?) p.(Leu19=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.68dup r.(?) p.(Asp23Glufs*29) Both (homozygous) - VUS g.101039149dup g.101320305dup 68dupA - IMPG2_000124 - PubMed: Ellingford 2016 - - Germline - - - 0 - DNA SEQ - 105-gene panel retinal disease 12002961 PubMed: Ellingford 2016 patient - - - - - 0 - - 1 LOVD
+?/. - c.68_69dup r.(?) p.(Phe24Thrfs*5) Parent #1 - 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 error in annotation, protein change should be p.(Phe24Thrfs*5) and not p.(Asp23Glufs*29), solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 919 PubMed: Weisschuh 2020 Filing key number: 393, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
-?/. - c.85+9A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.89_92del r.(?) p.(Gln30Profs*5) Unknown - pathogenic g.101038672_101038675del g.101319828_101319831del - - IMPG2_000058 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+/. - c.118G>T r.(?) p.(Glu40*) Unknown - pathogenic (recessive) g.101038644C>A - 3:101038644C>A ENST00000193391.7:c.118G>T (Glu40Ter) - IMPG2_000110 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease B240040 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - 0 - - 1 LOVD
?/. - c.176C>G r.(?) p.(Ala59Gly) Unknown - VUS g.101038586G>C g.101319742G>C - - IMPG2_000057 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+?/. - c.188_191del r.(?) p.(Lys63Serfs*13) Parent #1 - 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 - - 0 - DNA SEQ blood Sanger sequencing retinal disease 686 PubMed: Weisschuh 2020 Filing key number: 249, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.188_191del r.(?) p.(Lys63Serfs*13) Parent #1 - 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 - - 0 - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 687 PubMed: Weisschuh 2020 Filing key number: 249, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.189dup r.(?) p.(Gln64Thrfs*9) Both (homozygous) - 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) ? - - 0 - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - 0 - - 1 LOVD
+?/. - c.189dup r.(?) p.(Gln64Thrfs*9) Both (homozygous) - 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) ? - - 0 - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - 0 - - 1 LOVD
+/. - c.198_201dup r.(?) p.(Arg68Glyfs*6) Both (homozygous) - pathogenic g.101038561_101038564dup g.101319717_101319720dup - - IMPG2_000056 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
-?/. - c.222G>A r.(?) p.(Gln74=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256C>G r.(?) p.(Pro86Ala) Unknown - VUS g.101038506G>C g.101319662G>C - - IMPG2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.263G>T r.(?) p.(Gly88Val) Unknown - VUS g.101038499C>A g.101319655C>A - - IMPG2_000123 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - 1 LOVD
-?/. - c.276C>T r.(?) p.(Cys92=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.283G>A r.(?) p.(Glu95Lys) Unknown - VUS g.101038479C>T g.101319635C>T - - IMPG2_000122 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case71762 PubMed: Tiwari 2016 see paper F - Switzerland - - 0 - - 1 LOVD
?/. - c.331C>T r.(?) p.(Arg111*) Unknown - VUS g.101038431G>A g.101319587G>A - - IMPG2_000118 - PubMed: Vincent 2017 - - Germline - - - 0 - DNA SEQ-NG - 105-gene panel retinal disease 216 PubMed: Vincent 2017 family, 2 affected, patient and mother? F - Samoa - - 0 - - 2 LOVD
?/. - c.332G>C r.(?) p.(Arg111Pro) Unknown - VUS g.101038430C>G g.101319586C>G - - IMPG2_000055 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
-/. - c.335-13C>T r.(=) p.(=) Unknown - benign g.101023169G>A g.101304325G>A IMPG2(NM_016247.3):c.335-13C>T - IMPG2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.359C>T r.(?) p.(Ala120Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.370T>C r.(?) p.(Phe124Leu) Both (homozygous) - likely pathogenic (recessive) g.101023121A>G g.101304277A>G - - IMPG2_000038 - PubMed: Bandah-Rozenfeld 2010, PubMed: Sharon 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease MOL0732 PubMed: Bandah-Rozenfeld 2010, PubMed: Sharon 2019 - F yes Israel Arab Christian - 0 - - 1 Dror Sharon
?/. - c.370T>C r.(?) p.(Phe124Leu) Unknown - VUS g.101023121A>G g.101304277A>G - - IMPG2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.370T>C r.(?) p.(Phe124Leu) Unknown ACMG likely pathogenic g.101023121A>G - - - IMPG2_000038 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.370T>C r.(?) p.(Phe124Leu) Unknown ACMG VUS g.101023121A>G g.101304277A>G allele 1: c.370T>C/p.F124L - IMPG2_000038 single heterozygous PubMed: Weisschuh 2018 - - Germline ? - - 0 - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 26 PubMed: Weisschuh 2018 - M - Germany - - 0 - - 1 LOVD
+/. 3 c.379C>T r.(?) p.(Arg127*) Maternal (confirmed) - pathogenic g.101023112G>A g.101304268G>A Arg127* 379G>A - IMPG2_000002 - PubMed: Van Huet 2014, PubMed: Neveling 2012 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG-S - - retinal disease FamG PubMed: Van Huet 2014, PubMed: Neveling 2012 2-generation family, 2 affected (F, M) F;M yes - - - 0 - - 2 Kornelia Neveling
+/. - c.379C>T r.(?) p.(Arg127Ter) Unknown - pathogenic g.101023112G>A g.101304268G>A IMPG2(NM_016247.3):c.379C>T (p.R127*) - IMPG2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.379C>T r.(?) p.(Arg127Ter) Unknown - pathogenic g.101023112G>A g.101304268G>A IMPG2(NM_016247.3):c.379C>T (p.R127*) - IMPG2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.379C>T r.(?) p.(Arg127*) Parent #1 - likely pathogenic (recessive) g.101023112G>A g.101304268G>A c.379G>A - IMPG2_000076 no variant 2nd chromosome PubMed: Boulanger-Scemama 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC00680 PubMed: Boulanger-Scemama 2015 - - - France - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.379C>T r.(?) p.(Arg127Ter) Unknown - pathogenic g.101023112G>A - IMPG2(NM_016247.3):c.379C>T (p.R127*) - IMPG2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.380G>C r.(?) p.(Arg127Pro) Unknown - likely pathogenic g.101023111C>G g.101304267C>G - - IMPG2_000127 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 13DG1769 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 1 LOVD
?/. - c.391C>T r.(?) p.(Arg131Cys) Unknown - VUS g.101023100G>A g.101304256G>A - - IMPG2_000054 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs150344327 Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
-?/. - c.392G>A r.(?) p.(Arg131His) Unknown - likely benign g.101023099C>T g.101304255C>T IMPG2(NM_016247.3):c.392G>A (p.R131H) - IMPG2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.392G>A r.(?) p.(Arg131His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.411G>A r.(?) p.(Trp137*) Both (homozygous) - likely pathogenic g.101023080C>T g.101304236C>T - - IMPG2_000117 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 36 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - 1 LOVD
+?/. - c.455G>A r.(?) p.(Gly152Asp) Parent #1 - 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 ? - - 0 - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 181 PubMed: Weisschuh 2020 Filing key number: 69, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
?/. - c.470A>C r.(?) p.(Glu157Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.490T>C r.(?) p.(Leu164=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.501+5G>A r.spl? p.(?) Parent #1 - 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 ? - - 0 - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 831 PubMed: Weisschuh 2020 Filing key number: 342, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+/. - c.513T>G r.(?) p.(Tyr171Ter) Unknown - pathogenic g.101010343A>C g.101291499A>C - - IMPG2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.513T>G r.(?) p.(Tyr171*) Maternal (confirmed) - pathogenic (recessive) g.101010343A>C - Tyr171* - IMPG2_000035 - PubMed: Van Huet 2014 - - Germline yes - - 0 - DNA SEQ - - retinal disease FamH PubMed: Van Huet 2014, 2-generation family, 2 affected sisters F - - - - 0 - - 1 Johan den Dunnen
+/. - c.513T>G r.(?) p.(Tyr171*) Unknown - pathogenic g.101010343A>C g.101291499A>C - - IMPG2_000035 - PubMed: Haer-Wigman 2017 - - Germline yes - - 0 - DNA SEQ-NG - gene panel ? 458 PubMed: Haer-Wigman 2017 family - no Netherlands - - 0 - - 1 LOVD
+?/. - c.513T>G r.(?) p.(Tyr171Ter) Unknown - likely pathogenic g.101010343A>C g.101291499A>C - - IMPG2_000035 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 12DG1252 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 1 LOVD
+/. - c.513T>G r.(?) p.(Tyr171Ter) Parent #1 - pathogenic (recessive) g.101010343A>C g.101291499A>C - - IMPG2_000035 - PubMed: Van Huet 2015 - - Germline - - - 0 - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - 0 - - 1 LOVD
+?/. - c.533+4_533+7del r.spl? p.(?) Both (homozygous) - likely pathogenic g.101010319_101010322del g.101291475_101291478del Allele 1 c.533+4_533+7del (p.?), Allele 2 c.533+4_533+7del (p.?) - IMPG2_000147 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - 0 - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - 0 - - 1 LOVD
+?/. - c.533+4_533+7del r.spl? p.(?) Parent #1 - likely pathogenic g.101010319_101010322del g.101291475_101291478del IMPG2, variant 1: c.533+4_533+7del/p.?, variant 2: c.533+4_533+7del/p.? - IMPG2_000147 possibly solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 743 PubMed: Weisschuh 2020 Filing key number: 287, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
-/. - c.534-5dup r.spl? p.? Unknown - benign g.100995570dup g.101276726dup IMPG2(NM_016247.3):c.534-5dupT - IMPG2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.534-5dup r.spl? p.? Unknown - benign g.100995570dup g.101276726dup IMPG2(NM_016247.3):c.534-5dupT - IMPG2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.534-5dup r.spl? p.(?) Unknown ACMG likely pathogenic g.100995570dup g.101276726dup IMPG2 c.2890C>T, p.(Arg964*), c.534-5dup, p.(?) - IMPG2_000075 - PubMed: Jespersgaar 2019 - - Germline ? - - 0 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 417 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 1 LOVD
?/. - c.534-4dup r.spl? p.? Unknown - VUS g.100995561dup g.101276717dup - - IMPG2_000053 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs567795716 Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
?/. - c.534-4dup r.spl? p.(?) Unknown ACMG VUS g.100995561dup g.101276717dup IMPG2: NM_016247.3 c.534-4dup, p.? - IMPG2_000053 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - 0 - DNA SEQ-NG-I blood - retinal disease RPN-293 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - 0 - - 1 LOVD
?/. - c.595A>G r.(?) p.(Ser199Gly) Unknown - VUS g.100994578T>C g.101275734T>C - - IMPG2_000138 - PubMed: Wang 2014 - rs147670488 Germline - - - 0 - DNA SEQ-NG - 66-gene panel retinal disease 55 PubMed: Wang 2014 - F - United States - - 0 - - 1 LOVD
+?/. - c.634del r.(?) p.(Ser212Glnfs*19) Parent #1 - 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 ? - - 0 - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 727 PubMed: Weisschuh 2020 Filing key number: 275, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+/. 6 c.635C>G r.(?) p.(Ser212*) Both (homozygous) - pathogenic (recessive) g.100994538G>C g.101275694G>C - - IMPG2_000037 - PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014, PubMed: Sharon 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease MOL0764 PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014, PubMed: Sharon 2019 4-generation family, 3 affected sisters F yes Israel Iraq;Jewish - 0 - - 3 Dror Sharon
+/. - c.636del r.(?) p.(Glu213Argfs*18) Both (homozygous) - pathogenic (recessive) g.100994537del g.101275693del 636delA - IMPG2_000106 - PubMed: Bocquet 2013 - - Germline - - - 0 - DNA SEQ - - retinal disease PB15 PubMed: Bocquet 2013 2-generation family, 3 affected (F, 2M) F;M yes France - - 0 - - 3 Johan den Dunnen
+/. 6 c.636del r.(?) p.(Glu213Argfs*18) Both (homozygous) - pathogenic g.100994537del - c.636delA - IMPG2_000106 - PubMed: Bocquet-2013 - - Germline - - - 0 - DNA PCR blood - retinal disease - PubMed: Bocquet-2013 - - yes France - - 0 - - 1 LOVD
+?/. - c.666+5G>A r.spl? p.(?) Parent #1 - 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 ? - - 0 - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 730 PubMed: Weisschuh 2020 Filing key number: 280, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
-/. - c.666+10G>A r.(=) p.(=) Unknown - benign g.100994497C>T g.101275653C>T IMPG2(NM_016247.4):c.666+10G>A - IMPG2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.666+10G>A r.(=) p.(=) Unknown - benign g.100994497C>T g.101275653C>T IMPG2(NM_016247.4):c.666+10G>A - IMPG2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.676G>T r.(?) p.(Glu226*) Parent #1 - pathogenic (dominant) g.100992577C>A g.101273733C>A - - IMPG2_000105 - PubMed: Brandl 2017 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam8–572 PubMed: Brandl 2017 2-generation family, 2 affected (2F) F - Germany - - 0 - - 2 Johan den Dunnen
+/. - c.676G>T r.(?) p.(Glu226*) Unknown - pathogenic g.100992577C>A - IMPG2(NM_016247.4):c.676G>T (p.E226*) - IMPG2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.727G>C r.(?) p.(Ala243Pro) Parent #1 - likely pathogenic (dominant) g.100992526C>G g.101273682C>G - - IMPG2_000104 - PubMed: Brandl 2017 - - Germline - - - 0 - DNA SEQ - - retinal disease Fam9–399 PubMed: Brandl 2017 2-generation family, 2 affected (F, M) M - Germany - - 0 - - 2 Johan den Dunnen
?/. - c.745C>T r.(?) p.(Leu249Phe) Unknown - VUS g.100992508G>A g.101273664G>A IMPG2(NM_016247.3):c.745C>T (p.L249F) - IMPG2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.745C>T r.(?) p.(Leu249Phe) Unknown - likely benign g.100992508G>A g.101273664G>A IMPG2(NM_016247.3):c.745C>T (p.L249F) - IMPG2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.745C>T r.(?) p.(Leu249Phe) Unknown - VUS g.100992508G>A g.101273664G>A IMPG2(NM_016247.3):c.745C>T (p.L249F) - IMPG2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.745C>T r.(?) p.(Leu249Phe) Unknown - likely pathogenic g.100992508G>A g.101273664G>A - - IMPG2_000023 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 862 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.745C>T r.(?) p.(Leu249Phe) Parent #1 - likely pathogenic g.100992508G>A g.101273664G>A IMPG2, variant 1: c.745C>T p.L249F, variant 2: c.1045del/p.Y349Ifs*25 - IMPG2_000023 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 155 PubMed: Weisschuh 2020 Filing key number: 64, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.826G>T r.(?) p.(Glu276*) Both (homozygous) - likely pathogenic (recessive) g.100992427C>A g.101273583C>A - - IMPG2_000093 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.828+1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.100992424C>T - - - IMPG2_000092 - PubMed: Kim 2019 - - Germline - 1/86 cases - 0 - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.828+1G>A r.spl p.(?) Unknown ACMG pathogenic g.100992424C>T g.101273580C>T IMPG2 c.828+1G>A, Splice - IMPG2_000092 - PubMed: Kim 2019 - - Germline ? - - 0 - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - 0 - - 1 LOVD
-/. - c.828+20dup r.(=) p.(=) Unknown - benign g.100992414dup g.101273570dup IMPG2(NM_016247.3):c.828+20dupA - IMPG2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.829-1G>T r.spl p.? Both (homozygous) - pathogenic g.100988418C>A g.101269574C>A - - IMPG2_000136 - PubMed: Zhao 2015 - - Germline - - - 0 - DNA SEQ-NG - 86-gene panel retinal disease Rp69 PubMed: Zhao 2015 family - - Northern Ireland - - 0 - - 1 LOVD
?/. - c.871C>G r.(?) p.(Arg291Gly) Unknown - VUS g.100988375G>C g.101269531G>C - - IMPG2_000052 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+/. 8i_9i c.887+430_908+274del r.888_908del p.Arg296_Asp302del Both (homozygous) - pathogenic (recessive) g.100986081_100987929del - - - IMPG2_000094 - PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014 - - Germline - - - 0 - DNA arraySNP, SEQ - - retinal disease W01-299 PubMed: Bandah-Rozenfeld 2010, PubMed: Van Huet 2014 2-generation family, 3 affected sibs (F, 2M) F;M - Netherlands - - 0 - - 1 Johan den Dunnen
+/. - c.909-802_1154-539del r.909_1153del p(?) Both (homozygous) ACMG pathogenic (recessive) g.100973166_100977421del g.101254322_101258577del NM_016247.3:c.909-802 1154-539del; - IMPG2_000141 - PubMed: Patel 2018 - - Germline yes - - 0 - DNA SEQ-NG - 322 eye disease gene panel (negative), WES retinal disease 09DG00922 PubMed: Patel 2018 - - no Saudi Arabia - - 0 - - 1 LOVD
+?/. - c.911G>A r.(?) p.(Gly304Asp) Unknown 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 ? - - 0 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 416 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 1 LOVD
?/. - c.926A>G r.(?) p.(Tyr309Cys) Unknown - VUS g.100976600T>C g.101257756T>C - - IMPG2_000121 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case71868 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - 1 LOVD
?/. - c.952A>G r.(?) p.(Ile318Val) Unknown - VUS g.100976574T>C g.101257730T>C - - IMPG2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1045del r.(?) p.(Tyr349Ilefs*25) Parent #1 - 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 ? - - 0 - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 155 PubMed: Weisschuh 2020 Filing key number: 64, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.1100dup r.(?) p.(Leu367Phefs*12) Parent #2 - likely pathogenic g.100976431dup g.101257587dup 1094_1095insT - IMPG2_000116 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 35 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
+?/. - c.1135T>C r.(?) p.(Ser379Pro) Both (homozygous) - likely pathogenic (recessive) g.100976391A>G - Ser379Pro - IMPG2_000098 - PubMed: Van Huet 2014 - - Germline - - - 0 - DNA SEQ - - retinal disease FamK PubMed: Van Huet 2014 2-generation family, 1 affected F - - - - 0 - - 1 Johan den Dunnen
-/. - c.1140G>A r.(?) p.(Leu380=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1151A>G r.(?) p.(Asn384Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1151A>G r.(?) p.(Asn384Ser) Unknown - likely benign g.100976375T>C - IMPG2(NM_016247.3):c.1151A>G (p.N384S) - IMPG2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1153+5G>T r.(?) p.? Parent #2 - likely pathogenic g.100976368C>A g.101257524C>A - - IMPG2_000115 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 34 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
?/. - c.1169G>A r.(?) p.(Arg390His) Unknown - VUS g.100972610C>T g.101253766C>T - - IMPG2_000051 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs139255481 Germline - 16/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 16 Yoshito Koyanagi
-?/. - c.1169G>A r.(?) p.(Arg390His) Unknown - likely benign g.100972610C>T g.101253766C>T IMPG2(NM_016247.3):c.1169G>A (p.R390H) - IMPG2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1187T>C r.(?) p.(Leu396Pro) Unknown - VUS g.100972592A>G g.101253748A>G - - IMPG2_000050 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs773850021 Germline - 3/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 3 Yoshito Koyanagi
?/. - c.1219G>T r.(?) p.(Ala407Ser) Unknown - VUS g.100972560C>A g.101253716C>A - - IMPG2_000049 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199986912 Germline - 25/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 25 Yoshito Koyanagi
?/. - c.1219G>T r.(?) p.(Ala407Ser) Unknown - VUS g.100972560C>A g.101253716C>A - - IMPG2_000049 - PubMed: Wang 2014 - rs199986912 Germline - - - 0 - DNA SEQ-NG - 66-gene panel retinal disease 46 PubMed: Wang 2014 - M - United States - - 0 - - 1 LOVD
?/. - c.1240-3C>A r.spl? p.? Unknown - VUS g.100964952G>T g.101246108G>T IMPG2(NM_016247.3):c.1240-3C>A - IMPG2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1263G>A r.(?) p.(Trp421*) Unknown - pathogenic g.100964926C>T g.101246082C>T - - IMPG2_000048 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
?/. - c.1300C>T r.(?) p.(Pro434Ser) Unknown - VUS g.100964889G>A g.101246045G>A IMPG2(NM_016247.3):c.1300C>T (p.P434S) - IMPG2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1300C>T r.(?) p.(Pro434Ser) Unknown - VUS g.100964889G>A g.101246045G>A - - IMPG2_000070 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case71315 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - 1 LOVD
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