Full data view for gene IMPG1

Information The variants shown are described using the NM_001563.2 transcript reference sequence.

155 entries on 2 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.-33044_*2922741del r.0? p.0? Maternal (confirmed) - pathogenic g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-/. 15 c.? r.(?) p.? Unknown - benign g.? - c.2240C>T - IMPG1_000056 - PubMed: Abdel Aziz 2005 - rs10943299 Germline - - - - - DNA PCR - - retinal disease - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - 1 LOVD
-/. 16 c.? r.(?) p.? Unknown - benign g.? - c.2262G>A - IMPG1_000056 - PubMed: Abdel Aziz 2005 - rs3734313 Germline - - - - - DNA PCR - - retinal disease - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - 1 LOVD
-/. 17 c.? r.(?) p.? Unknown - benign g.? - c.2412G>A - IMPG1_000056 - PubMed: Abdel Aziz 2005 - rs3778005 Germline - - - - - DNA PCR - - retinal disease - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - 1 LOVD
-?/. - c.15T>C r.(?) p.(Thr5=) Unknown - likely benign g.76782191A>G - IMPG1(NM_001563.4):c.15T>C (p.T5=) - IMPG1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i_6i c.145-212_772-211insA r.spl? p.? Unknown - benign g.76728681_76751978insT - IVS2-212insA - IMPG1_000061 - PubMed: Abdel Aziz 2005 - - Germline - 16.5% (in 100 controls) - - - DNA PCR - - retinal disease - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - 1 LOVD
-/. - c.173G>A r.(?) p.(Arg58Lys) Unknown - benign g.76751738C>T g.76042021C>T IMPG1(NM_001563.3):c.173G>A (p.R58K), IMPG1(NM_001563.4):c.173G>A (p.R58K) - IMPG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.173G>A r.(?) p.(Arg58Lys) Unknown - benign g.76751738C>T g.76042021C>T IMPG1(NM_001563.3):c.173G>A (p.R58K), IMPG1(NM_001563.4):c.173G>A (p.R58K) - IMPG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.184G>A r.(?) p.(Asp62Asn) Unknown - VUS g.76751727C>T g.76042010C>T G184A - IMPG1_000054 - PubMed: Katagiri 2014 - rs137915302 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#029 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.205A>G r.(?) p.(Lys69Glu) Unknown - VUS g.76751706T>C - IMPG1(NM_001563.4):c.205A>G (p.K69E) - chr6_007629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257T>A r.(?) p.(Met86Lys) Unknown - VUS g.76751654A>T - IMPG1(NM_001563.3):c.257T>A (p.M86K) - IMPG1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301+19C>G r.(=) p.(=) Unknown - benign g.76751591G>C g.76041874G>C IMPG1(NM_001563.4):c.301+19C>G - IMPG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>C r.(?) p.(Val106Leu) Unknown ACMG VUS g.76744490C>G g.76034773C>G IMPG1:NM_001563 c.G316C, p.V106L - IMPG1_000071 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-536 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.335del r.(?) p.(Ile112Thrfs*47) Unknown - likely pathogenic g.76744471del g.76034754del c.336TC>C; p.I112IX - IMPG1_000066 uncertain annotation PubMed: Kersten 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Whole-exome sequencing retinal disease ? PubMed: Kersten 2018 - F - - - - - - - 1 LOVD
+/. - c.378G>A r.(?) p.(Trp126*) Unknown - pathogenic g.76744428C>T g.76034711C>T CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[(R403Q)], CNGA3: c.[1777G>A];[=], p.[E593K];[=], IMPG1: c.[378C>T];[=] (wrror in annotation, this protein truncation is caused by 378G>A), p.[W126*];[=] - IMPG1_000067 - PubMed: Burkhard 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease 9 PubMed: Burkhard 2018 - F no - - - - - - 1 LOVD
+?/. - c.378G>A r.(?) p.(Trp126*) Parent #1 - likely pathogenic g.76744428C>T g.76034711C>T IMPG1, variant 1: c.378G>A/p.W126* - IMPG1_000067 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 830 PubMed: Weisschuh 2020 Filing key number: 342, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.421G>T r.(?) p.(Gly141*) Unknown - likely pathogenic g.76744385C>A - IMPG1(NM_001563.3):c.421G>T (p.G141*) - IMPG1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425A>G r.(?) p.(Lys142Arg) Unknown - VUS g.76744381T>C g.76034664T>C - - IMPG1_000050 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP298 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
?/. - c.432C>G r.(?) p.(Phe144Leu) Unknown - VUS g.76744374G>C g.76034657G>C - - IMPG1_000049 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP281 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+?/. - c.461T>C r.(?) p.(Leu154Pro) Maternal (inferred) - likely pathogenic g.76744345A>G g.76034628A>G IMPG1 c.461T>C (p.Leu154Pro) - IMPG1_000085 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease NAL69_II:2 PubMed: Manes 2013 - F - France French - - - - 1 LOVD
+?/. - c.461T>C r.(?) p.(Leu154Pro) Maternal (inferred) - likely pathogenic g.76744345A>G g.76034628A>G IMPG1 c.461T>C (p.Leu154Pro) - IMPG1_000085 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease NAL69_II:4 PubMed: Manes 2013 - M - France French - - - - 1 LOVD
+?/. 11i c.461T>C r.(?) p.(Leu154Pro) Paternal (confirmed) - likely pathogenic g.76744345A>G g.76034628A>G IMPG1 c.461T>C, p.Leu154Pro - IMPG1_000085 heterozygous; father also heterozygous, but carried a previous diagnosis of central serous chorioretinopathy PubMed: Gupta 2019 - rs713993047 Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Gupta 2019 proband F - - - - - - - 1 LOVD
+?/. 11i c.461T>C r.(?) p.(Leu154Pro) Unknown - likely pathogenic g.76744345A>G g.76034628A>G IMPG1 c.461T>C, p.Leu154Pro - IMPG1_000085 heterozygous; father also heterozygous, but carried a previous diagnosis of central serous chorioretinopathy PubMed: Gupta 2019 - rs713993047 Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Gupta 2019 proband's father M - - - - - - - 1 LOVD
-/. 4i c.498-90T>C r.(=) p.(=) Unknown - benign g.76735065A>G - IVS4-90T>C - IMPG1_000063 - PubMed: Abdel Aziz 2005 - rs1341568 Germline - - - - - DNA PCR - - retinal disease - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - 1 LOVD
-?/. - c.498-20C>T r.(=) p.(=) Unknown - likely benign g.76734995G>A - IMPG1(NM_001563.4):c.498-20C>T - IMPG1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.503A>G r.(?) p.(Asp168Gly) Unknown - VUS g.76734970T>C - IMPG1(NM_001563.4):c.503A>G (p.D168G) - IMPG1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.540T>G r.(?) p.(Gly180=) Unknown - benign g.76734933A>C g.76025216A>C IMPG1(NM_001563.3):c.540T>G (p.G180=), IMPG1(NM_001563.4):c.540T>G (p.G180=) - IMPG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.540T>G r.(?) p.(Gly180=) Unknown - benign g.76734933A>C g.76025216A>C IMPG1(NM_001563.3):c.540T>G (p.G180=), IMPG1(NM_001563.4):c.540T>G (p.G180=) - IMPG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.562+75A>T r.(=) p.(=) Unknown - benign g.76734836T>A - IVS5+75A>T - IMPG1_000062 - PubMed: Abdel Aziz 2005 - - Germline - 33.3% (in 100 controls) - - - DNA PCR - - retinal disease - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - 1 LOVD
?/. - c.572A>G r.(?) p.(Asn191Ser) Unknown - VUS g.76731927T>C - IMPG1(NM_001563.3):c.572A>G (p.N191S) - IMPG1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.645C>T r.(?) p.(Asn215=) Unknown - benign g.76731854G>A g.76022137G>A IMPG1(NM_001563.3):c.645C>T (p.N215=), IMPG1(NM_001563.4):c.645C>T (p.N215=) - IMPG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.645C>T r.(?) p.(Asn215=) Unknown - likely benign g.76731854G>A g.76022137G>A IMPG1(NM_001563.3):c.645C>T (p.N215=), IMPG1(NM_001563.4):c.645C>T (p.N215=) - IMPG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.650C>T r.(?) p.(Thr217Ile) Unknown - benign g.76731849G>A g.76022132G>A IMPG1(NM_001563.4):c.650C>T (p.T217I) - IMPG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.665del r.(?) p.(Thr222LysfsTer22) Unknown - pathogenic g.76731834del g.76022117del - - IMPG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.667-10T>A r.(=) p.(=) Unknown - benign g.76728585A>T g.76018868A>T IMPG1(NM_001563.4):c.667-10T>A - IMPG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.667-10_667-9del r.(=) p.(=) Unknown - benign g.76728596_76728597del g.76018879_76018880del IMPG1(NM_001563.4):c.667-10_667-9delTT - IMPG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.667-9del r.(=) p.(=) Unknown - benign g.76728597del g.76018880del IMPG1(NM_001563.4):c.667-9delT - IMPG1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.667-9delT r.(=) p.(=) Unknown - benign g.76728584delA - VS6-9delT - IMPG1_000060 - PubMed: Abdel Aziz 2005 - - Germline - 50% (in 100 controls) - - - DNA PCR - - retinal disease - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - 1 LOVD
-/. - c.667-9dup r.(=) p.(=) Unknown - benign g.76728597dup g.76018880dup IMPG1(NM_001563.3):c.667-9dupT, IMPG1(NM_001563.4):c.667-9dupT - IMPG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.667-9dup r.(=) p.(=) Unknown - benign g.76728597dup g.76018880dup IMPG1(NM_001563.3):c.667-9dupT, IMPG1(NM_001563.4):c.667-9dupT - IMPG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667-3C>T r.spl? p.? Unknown - likely benign g.76728578G>A - IMPG1(NM_001563.3):c.667-3C>T - IMPG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.713T>C r.(?) p.(Leu238Pro) Parent #1 - likely pathogenic (dominant) g.76728529A>G g.76018812A>G - - IMPG1_000038 - PubMed: Brandl 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam13–501 PubMed: Brandl 2017 2-generation family, 1 affected M - Germany - - - - - 1 Johan den Dunnen
+/. - c.713T>G r.(?) p.(Leu238Arg) Parent #1 - pathogenic (dominant) g.76728529A>C - - - IMPG1_000035 - PubMed: Meunier 2014 - - Germline yes - - - - DNA SEQ - - retinal disease Fam1 PubMed: Meunier 2014 5-generation family, 8 affected (4F, 4M) F;M - France - - - - - 8 Johan den Dunnen
+/. - c.713T>G r.(?) p.(Leu238Arg) Parent #1 - pathogenic (dominant) g.76728529A>C - - - IMPG1_000035 - PubMed: Meunier 2014 - - Germline yes - - - - DNA SEQ - - retinal disease Fam2 PubMed: Meunier 2014 3-generation family, 2 affected (2M) M - France - - - - - 2 Johan den Dunnen
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP327_IV:2 PubMed: Manes 2013 - F - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP327_IV:4 PubMed: Manes 2013 - M - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP327_IV:6 PubMed: Manes 2013 - M - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Maternal (confirmed) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP327_V:2 PubMed: Manes 2013 - F - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Maternal (confirmed) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP327_V:3 PubMed: Manes 2013 - F - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Maternal (confirmed) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP327_V:4 PubMed: Manes 2013 - M - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (confirmed) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP327_V:5 PubMed: Manes 2013 - M - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (confirmed) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP327_V:6 PubMed: Manes 2013 - F - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP1290_III:1 PubMed: Manes 2013 - F - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP1290_III:4 PubMed: Manes 2013 - M - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MTP1290_III:5 PubMed: Manes 2013 - M - France French - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Maternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MD0531_II:3 PubMed: Manes 2013 - M - Spain Spanish - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Maternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MD0531_III:1 PubMed: Manes 2013 - F - Spain Spanish - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Maternal (inferred) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MD0531_III:5 PubMed: Manes 2013 - F - Spain Spanish - - - - 1 LOVD
+?/. - c.713T>G r.(?) p.(Leu238Arg) Paternal (confirmed) - likely pathogenic g.76728529A>C g.76018812A>C IMPG1 c.713T>G (p.Leu238Arg) - IMPG1_000035 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ-NG, SEQ blood - retinal disease MD0531_III:8 PubMed: Manes 2013 - M - Spain Spanish - - - - 1 LOVD
?/. - c.742A>G r.(?) p.(Lys248Glu) Unknown - VUS g.76728500T>C g.76018783T>C IMPG1(NM_001563.4):c.742A>G (p.K248E) - IMPG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.753C>T r.(?) p.(Leu251=) Unknown - benign g.76728489G>A g.76018772G>A IMPG1(NM_001563.3):c.753C>T (p.L251=), IMPG1(NM_001563.4):c.753C>T (p.L251=) - IMPG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753C>T r.(?) p.(Leu251=) Unknown - likely benign g.76728489G>A g.76018772G>A IMPG1(NM_001563.3):c.753C>T (p.L251=), IMPG1(NM_001563.4):c.753C>T (p.L251=) - IMPG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.767C>G r.(?) p.(Ser256Cys) Unknown - VUS g.76728475G>C g.76018758G>C - - IMPG1_000048 2/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP224 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.771A>G r.(?) p.(Pro257=) Unknown - likely benign g.76728471T>C - IMPG1(NM_001563.4):c.771A>G (p.P257=) - IMPG1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.773A>G r.(?) p.(Tyr258Cys) Unknown - VUS g.76728469T>C g.76018752T>C A773G - IMPG1_000053 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#023 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.776A>C r.(?) p.(Tyr259Ser) Unknown - VUS g.76728466T>G g.76018749T>G - - IMPG1_000047 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP021 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
?/. - c.776A>C r.(?) p.(Tyr259Ser) Unknown - VUS g.76728466T>G - IMPG1(NM_001563.4):c.776A>C (p.Y259S) - IMPG1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.807+1G>C r.spl p.(?) Parent #1 - likely pathogenic g.76728434C>G g.76018717C>G IMPG1, variant 1: c.807+1G>C/p.?, variant 2: c.807+1G>C/p.? - IMPG1_000075 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 211 PubMed: Weisschuh 2020 Filing key number: 75, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.807+1G>T r.spl p.? Both (homozygous) - likely pathogenic g.76728434C>A g.76018717C>A IMPG1 c.807+1G>T - IMPG1_000084 homozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease NA1863_II:1 PubMed: Manes 2013 parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities M yes Italy Italian - - - - 1 LOVD
+?/. - c.807+1G>T r.spl p.? Both (homozygous) - likely pathogenic g.76728434C>A g.76018717C>A IMPG1 c.807+1G>T - IMPG1_000084 homozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease NA1863_II:2 PubMed: Manes 2013 parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities F yes Italy Italian - - - - 1 LOVD
+?/. - c.807+2T>A r.spl p.(?) Unknown - likely pathogenic g.76728433A>T g.76018716A>T IMPG1 c.807+2T>A, - IMPG1_000074 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009838 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.807+5G>A r.(667_807del,?) p.(Glu223_Gln269del,?) Both (homozygous) - pathogenic (recessive) g.76728430C>T g.76018713C>T - - IMPG1_000037 effect RNA predicted from expression cloning HEK293 cells minigene construct PubMed: Brandl 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam11–151 PubMed: Brandl 2017 2-generation family, 1 affected M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.809T>G r.(?) p.(Met270Arg) Unknown - VUS g.76720940A>C g.76011223A>C IMPG1(NM_001563.3):c.809T>G (p.M270R), IMPG1(NM_001563.4):c.809T>G (p.M270R) - IMPG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.809T>G r.(?) p.(Met270Arg) Unknown - VUS g.76720940A>C g.76011223A>C IMPG1(NM_001563.3):c.809T>G (p.M270R), IMPG1(NM_001563.4):c.809T>G (p.M270R) - IMPG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.883G>A r.(?) p.(Asp295Asn) Unknown - likely benign g.76717201C>T g.76007484C>T IMPG1(NM_001563.3):c.883G>A (p.D295N) - IMPG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9i c.888-48C>T r.(=) p.(=) Unknown - benign g.76715299G>A - IVS9-48C>T - IMPG1_000059 - PubMed: Abdel Aziz 2005 - rs17802616 Germline - - - - - DNA PCR - - retinal disease - PubMed: Abdel Aziz 2005 - - - Spain Spanish - - - - 1 LOVD
+/. - c.960T>A r.(?) p.(Ser320Arg) Maternal (confirmed) - pathogenic (dominant) g.76715179A>T - - - IMPG1_000088 - PubMed: Olivier 2021 - - Germline - - - - - DNA SEQ - - VMD FamFPatI1/II1 PubMed: Olivier 2021 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.960T>A r.(?) p.(Ser320Arg) Maternal (confirmed) - pathogenic (dominant) g.76715179A>T - - - IMPG1_000088 - PubMed: Olivier 2021 - - Germline - - - - - DNA SEQ - - VMD FamGPatI1/II1 PubMed: Olivier 2021 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+?/. - c.976G>T r.(?) p.(Asp326Tyr) Parent #1 - likely pathogenic g.76715163C>A g.76005446C>A - - IMPG1_000045 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM883 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
?/. - c.976G>T r.(?) p.(Asp326Tyr) Unknown ACMG VUS g.76715163C>A g.76005446C>A IMPG1 c.[742G>T];[742=], V1: c.742G>T, (p.Asp248Tyr) - IMPG1_000045 different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6); heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F236 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.976G>T r.(?) p.(Asp326Tyr) Parent #1 - VUS g.76715163C>A g.76005446C>A IMPG1 c.[742G>T];[742=]; p.(Asp248Tyr) - IMPG1_000045 different transcript, NM_001282368.1:c.742G>T, p.(Asp248Tyr); heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000398 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F236 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
?/. - c.1016C>A r.(?) p.(Thr339Asn) Unknown - VUS g.76715123G>T - IMPG1(NM_001563.4):c.1016C>A (p.T339N) - IMPG1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1069A>G r.(?) p.(Arg357Gly) Unknown - VUS g.76715070T>C g.76005353T>C IMPG1(NM_001563.3):c.1069A>G (p.R357G) - IMPG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1157C>A r.(?) p.(Ala386Asp) Unknown - pathogenic g.76713646G>T - 6:76713646G>T ENST00000369950.3:c.1157C>A (Ala386Asp) - IMPG1_000041 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000247 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.1157C>A r.(?) p.(Ala386Asp) Unknown - likely pathogenic g.76713646G>T g.76003929G>T IMPG1 c.1157C>A, p.Ala386Asp - IMPG1_000041 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000247 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
-/. - c.1191A>G r.(?) p.(Thr397=) Unknown - benign g.76713612T>C g.76003895T>C IMPG1(NM_001563.4):c.1191A>G (p.T397=) - IMPG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11i c.1212+2T>C r.spl p.? Paternal (inferred) - likely pathogenic (dominant) g.76713589A>G g.76003872A>G IMPG1 IVS11 + 2T>C (c.1212 + 2 T > C) - IMPG1_000082 heterozygous; parents do not have this mutation PubMed: Gonzalez Gomez 2019 - - De novo ? - - - - DNA SEQ blood - retinal disease ? PubMed: Gonzalez Gomez 2019 - - - - - - - - - 1 LOVD
-?/. - c.1228C>A r.(?) p.(Pro410Thr) Unknown - likely benign g.76712698G>T - IMPG1(NM_001563.3):c.1228C>A (p.P410T) - IMPG1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1235T>C r.(?) p.(Leu412Pro) Unknown - VUS g.76712691A>G - - - IMPG1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1291+1G>T r.spl p.(?) Parent #1 - likely pathogenic g.76712634C>A g.76002917C>A IMPG1, variant 1 : c.1291+1G>T/p.?, variant 2 : c.1291+1G>T/p.? - IMPG1_000073 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 828 PubMed: Weisschuh 2020 Filing key number: 339, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
-/. - c.1292-7T>G r.(=) p.(=) Unknown - benign g.76660818A>C g.75951101A>C IMPG1(NM_001563.4):c.1292-7T>G - IMPG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1317G>A r.(?) p.(Met439Ile) Unknown - likely benign g.76660786C>T - IMPG1(NM_001563.4):c.1317G>A (p.M439I) - IMPG1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1346C>A r.(?) p.(Pro449His) Unknown - VUS g.76660757G>T g.75951040G>T - - IMPG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1388G>T r.(?) p.(Gly463Val) Unknown - benign g.76660715C>A g.75950998C>A IMPG1(NM_001563.4):c.1388G>T (p.G463V) - IMPG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1413C>T r.(?) p.(Asp471=) Unknown - likely benign g.76660690G>A g.75950973G>A IMPG1(NM_001563.4):c.1413C>T (p.D471=) - IMPG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1519C>T r.(?) p.(Arg507Ter) Paternal (confirmed) - likely pathogenic g.76660584G>A g.75950867G>A IMPG1 c.1519C>T (p.Arg507*) - IMPG1_000083 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease NAL69_II:2 PubMed: Manes 2013 - F - France French - - - - 1 LOVD
+?/. - c.1519C>T r.(?) p.(Arg507Ter) Paternal (confirmed) - likely pathogenic g.76660584G>A g.75950867G>A IMPG1 c.1519C>T (p.Arg507*) - IMPG1_000083 heterozygous PubMed: Manes 2013 - - Germline yes - - - - DNA STR, SEQ blood - retinal disease NAL69_II:4 PubMed: Manes 2013 - M - France French - - - - 1 LOVD
?/. 13 c.1520G>A r.(?) p.(Arg507Gln) Unknown - VUS g.76660583C>T g.75950866C>T G1520A - IMPG1_000052 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#016 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
-?/. - c.1545G>A r.(?) p.(Met515Ile) Unknown - likely benign g.76660558C>T g.75950841C>T IMPG1(NM_001563.3):c.1545G>A (p.M515I) - IMPG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1552C>G r.(?) p.(His518Asp) Unknown - benign g.76660551G>C g.75950834G>C - - IMPG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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