Full data view for gene SPATA7

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_018418.4 transcript reference sequence.

208 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.(?_-175-1)_(1215+1_1216-1)del r.spl p.(?) Unknown ACMG likely pathogenic g.? g.? SPATA7 Exon 1-11 deletion; p.? - SERPINA1_000009 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 106 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.? r.? p.0? Unknown ACMG pathogenic g.? - NM_018418.5:c.-162_372del - SERPINA1_000009 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - c.C271T p.Q91X - SERPINA1_000009 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam23 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous mother - - China Han - - - - 1 LOVD
+/. 5 c.? r.(?) p.? Unknown - pathogenic g.88892586_88892589delATAG - c.383_386delATAG - SERPINA1_000009 - PubMed: li 2011 - - Germline - 1/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M no China Chinese - - - - 1 LOVD
+/. 1 c.3G>A r.(?) p.0? Parent #1 - pathogenic g.88852165G>A g.88385821G>A M1? - SPATA7_000002 - PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+/. - c.3G>A r.(?) p.(Met1?) Unknown - pathogenic g.88852165G>A g.88385821G>A SPATA7(NM_018418.4):c.3G>A (p.M1?) - SPATA7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A r.(?) p.(Met1?) Unknown - pathogenic g.88852165G>A g.88385821G>A SPATA7(NM_018418.4):c.3G>A (p.M1?) - SPATA7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.3G>A r.? p.? Unknown - likely pathogenic g.88852165G>A - c.3G>A - SPATA7_000002 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
+?/. - c.3G>A r.(?) p.(Met1?) Unknown ACMG likely pathogenic (recessive) g.88852165G>A g.88385821G>A - - SPATA7_000002 ACMG PM2, PVS1_MODERATE, PP5_STRONG PubMed: Weisschuh 2024 844972 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1236 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.3G>T r.(?) p.(Met1?) Maternal (confirmed) - likely pathogenic g.88852165G>T g.88385821G>T SPATA7 c.3G>T , p.M1I - SPATA7_000094 single heterozygous variant, no second allele found PubMed: Perrault 2010 - - Germline yes - - - - DNA SEQ - - retinal disease 5 PubMed: Perrault 2010 Family 4 F - France French - - - - 1 LOVD
+?/. - c.3G>T r.(?) p.(Met1?) Unknown - likely pathogenic g.88852165G>T - - - SPATA7_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4G>A r.(?) p.(Asp2Asn) Unknown - benign g.88852166G>A g.88385822G>A SPATA7(NM_018418.4):c.4G>A (p.D2N), SPATA7(NM_018418.5):c.4G>A (p.D2N) - SPATA7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4G>A r.(?) p.(Asp2Asn) Unknown - benign g.88852166G>A g.88385822G>A SPATA7(NM_018418.4):c.4G>A (p.D2N), SPATA7(NM_018418.5):c.4G>A (p.D2N) - SPATA7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4G>A r.(?) p.(Asp2Asn) Unknown - benign g.88852166G>A g.88385822G>A SPATA7(NM_018418.4):c.4G>A (p.D2N), SPATA7(NM_018418.5):c.4G>A (p.D2N) - SPATA7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4G>A r.(?) p.(Asp2Asn) Unknown - benign g.88852166G>A g.88385822G>A - - SPATA7_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs4904448 Germline - 122/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 122 Yoshito Koyanagi
-/. - c.4G>A r.(?) p.(Asp2Asn) Both (homozygous) - benign g.88852166G>A g.88385822G>A - - SPATA7_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs4904448 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
+?/. - c.8_19+14del r.spl p.(?) Unknown ACMG likely pathogenic g.88852170_88852195del g.88385826_88385851del SPATA7 c.8_19+14deI; p.? - SPATA7_000088 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 106 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.19G>A r.(?) p.(Val7Ile) Parent #1 - likely pathogenic g.88852181G>A g.88385837G>A NM_001040428.3:c.19G>A - SPATA7_000054 effect on splicing predicted from mini-gene splicing assay PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease ZPQ_055 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
+/. - c.19G>T r.spl? p.? Unknown - pathogenic g.88852181G>T g.88385837G>T - - SPATA7_000057 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 751 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
?/. - c.19G>T r.(?) p.(Val7Phe) Unknown - VUS g.88852181G>T - - - SPATA7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.19+102del r.(=) p.(=) Unknown - benign g.88852283del g.88385939del SPATA7(NM_018418.5):c.19+102delG - SPATA7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3i_4 c.20-2_21delAGTC r.(?) p.? Unknown - likely pathogenic (recessive) g.88857723_88857726delAGTC - c.20-2_21delAGTC - SPATA7_000091 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 4 c.20_21del r.(?) p.(Asn7Lysfs*7) Unknown - likely pathogenic (recessive) g.88857725_88857726del - c.20_21delTC - SPATA7_000086 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. - c.20_21delTC r.(?) p.(Val7Glufs*16) Unknown ACMG pathogenic g.88857725_88857726del g.88391381_88391382del SPATA7 NM_018418: g.6458_6459delTC, c.20_21delTC, p.V7Efs16 - SPATA7_000086 - PubMed: Xu 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ - targeted next-generation sequencing/Sanger sequencing retinal disease 67010 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
?/. - c.20_23del r.(?) p.(Val7GlufsTer19) Unknown - VUS g.88857725_88857728del g.88391381_88391384del - - SPATA7_000025 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236050 Germline - 28/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 28 Yoshito Koyanagi
?/. - c.20_23del r.(?) p.(Val7GlufsTer19) Both (homozygous) - VUS g.88857725_88857728del g.88391381_88391384del - - SPATA7_000025 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236050 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+/. - c.20_23del r.(?) p.(Val7Glufs*19) Maternal (confirmed) - VUS g.88857725_88857728del - 20_23delTCAG - SPATA7_000025 - PubMed: Han 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat7;Pat12;Pat12 PubMed: Han 2017, PubMed: Rim 2017 - F - Korea - - - - - 1 LOVD
+?/. - c.20_23del r.(?) p.(Val7Glufs*19) Unknown ACMG pathogenic g.88857725_88857728del g.88391381_88391384del - - SPATA7_000025 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0119 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 4 c.20_23delTCAG r.(?) p.(Val7Glufs*19) Unknown - pathogenic g.88857725_88857728delTCAG - 20_23delTCAG - SPATA7_000074 - PubMed: li 2011 - - Germline - 2/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 Twin# M no China Chinese - - - - 1 LOVD
-/. 4 c.20_23delTCAG r.(?) p.(Val7Glufs*19) Unknown - benign g.88857725_88857728delTCAG - 20_23delTCAG - SPATA7_000074 - PubMed: li 2011 - - Germline - 2/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M no China Chinese - - - - 1 LOVD
+/. 2 c.20_23delTCAG r.(?) p.(Val7Glufs*19) Unknown ACMG pathogenic g.88857725_88857728del g.88391381_88391384del NM_018418.4:c.20_23delTCAG, NP_060888.2:p.(Val7GlufsTer19), NC_000014.8:g.88857725_88857728delTCAG - SPATA7_000025 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082903 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. - c.20_23delTCAG r.(?) p.(Val7Glufs*19) Parent #1 - likely pathogenic g.88857725_88857728del g.88391381_88391384del SPATA7 c.20_23delTCAG, p.V7Efs*19 - SPATA7_000025 heterozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG - targeted exome sequencing retinal disease F08-II:1 PubMed: Xiao 2019 family ZOCF08-new M - China - - - - - 1 LOVD
+?/. - c.20_23delTCAG r.(?) p.(Val7Glufs*19) Parent #1 - likely pathogenic g.88857725_88857728del g.88391381_88391384del SPATA7 c.20_23delTCAG, p.V7Efs*19 - SPATA7_000025 heterozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG - targeted exome sequencing retinal disease F09-II:1 PubMed: Xiao 2019 family ZOCF09-new M - China - - - - - 1 LOVD
+?/. - c.20_23delTCAG r.(?) p.(Val7Glufs*19) Both (homozygous) - likely pathogenic g.88857725_88857728del g.88391381_88391384del SPATA7 c.20_23delTCAG, p.V7Efs*19 - SPATA7_000025 homozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease F10-II:1 PubMed: Xiao 2019 family ZOCF10-new M - China - - - - - 1 LOVD
+?/. - c.20_23delTCAG r.(?) p.(Val7Glufs*19) Both (homozygous) - likely pathogenic g.88857725_88857728del g.88391381_88391384del SPATA7 c.20_23delTCAG, p.V7Efs*19 - SPATA7_000025 homozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ - - retinal disease F10-II:2 PubMed: Xiao 2019 family ZOCF10-new M - China - - - - - 1 LOVD
-?/. - c.57G>T r.(?) p.(Pro19=) Unknown - likely benign g.88857762G>T g.88391418G>T SPATA7(NM_018418.4):c.57G>T (p.P19=) - SPATA7_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.94+2T>C r.spl? p.? Parent #1 - likely pathogenic g.88857801T>C g.88391457T>C - - SPATA7_000047 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786204787 Germline - 1/2781 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.189del r.(?) p.(Ala64Leufs*3) Parent #1 - likely pathogenic g.88859831del g.88393487del c.187_187delA - SPATA7_000058 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP034 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
-?/. - c.190+16T>C r.(=) p.(=) Unknown - likely benign g.88859848T>C - SPATA7(NM_018418.5):c.190+16T>C - SPATA7_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207G>A r.(?) p.(Ser69=) Unknown - likely benign g.88862516G>A - SPATA7(NM_018418.4):c.207G>A (p.S69=) - SPATA7_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.220G>A r.(?) p.(Val74Met) Unknown - benign g.88862529G>A g.88396185G>A - - SPATA7_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3179969 Germline - 475/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 475 Yoshito Koyanagi
-/. - c.220G>A r.(?) p.(Val74Met) Both (homozygous) - benign g.88862529G>A g.88396185G>A - - SPATA7_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3179969 Germline - 98/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 98 Yoshito Koyanagi
?/. - c.225T>A r.(?) p.(Ser75Arg) Unknown - VUS g.88862534T>A g.88396190T>A SPATA7(NM_018418.4):c.225T>A (p.S75R) - SPATA7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i c.238+1G>A r.(?) p.(?) Both (homozygous) - likely pathogenic g.88862548G>A g.88396204G>A SPATA7 IVS4 c.238+1G>A p.(?), IVS4 c.238+1G>A p.(?) - SPATA7_000084 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1478 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.245A>G r.(?) p.(Asp82Gly) Unknown - VUS g.88883061A>G - SPATA7(NM_018418.4):c.245A>G (p.D82G) - SPATA7_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.245dup r.(?) p.(Asp82Glufs*16) Parent #2 - likely pathogenic g.88883061dup g.88416717dup c.244_245insA - SPATA7_000059 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP034 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. 5 c.250C>T r.(?) p.(Pro84Ser) Both (homozygous) - pathogenic g.88883066C>T - c.250C>T - SPATA7_000092 - PubMed: Salmaninejad-202 - - Unknown - - - - - DNA SEQ-NG, arraySNP, PCR, SEQ blood WES retinal disease - PubMed: Salmaninejad-202 parents and the healthy sister were both heterozygous. - yes - Iranian - - - - 1 LOVD
?/. - c.253C>T r.(?) p.(Arg85*) Both (homozygous) - VUS g.88883069C>T g.88416725C>T - - SPATA7_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
+/. - c.253C>T r.(?) p.(Arg85Ter) Unknown - pathogenic g.88883069C>T g.88416725C>T - - SPATA7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.253C>T r.(?) p.(Arg85*) Both (homozygous) - likely pathogenic g.88883069C>T g.88416725C>T - - SPATA7_000004 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12002956 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.253C>T r.(?) p.(Arg85Ter) Both (homozygous) - pathogenic g.88883069C>T g.88416725C>T - - SPATA7_000004 - PubMed: Watson 2014 - - Germline - - - - - DNA SEQ-NG - 162-gene panel retinal disease MA15 PubMed: Watson 2014 family - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 5 c.253C>T r.(?) p.(Arg85*) Unknown ACMG pathogenic g.88883069C>T g.88416725C>T NM_018418.4:c.253C>T, NP_060888.2:p.(Arg85Ter), NC_000014.8:g.88883069C>T - SPATA7_000004 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016082903 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 5 c.253C>T r.(?) p.(Arg85*) Both (homozygous) - likely pathogenic g.88883069C>T g.88416725C>T SPATA7 Ex.5 c.253C>T p.(Arg85*), Ex.5 c.253C>T p.(Arg85*) - SPATA7_000004 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-1374 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 5 c.253C>T r.(?) p.(Arg85*) Both (homozygous) - likely pathogenic g.88883069C>T g.88416725C>T SPATA7 Ex.5 c.253C>T p.(Arg85*), Ex.5 c.253C>T p.(Arg85*) - SPATA7_000004 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1736 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 5 c.253C>T r.(?) p.(Arg85Trp) Unknown - likely pathogenic (recessive) g.88883069C>T - c.253C>T - SPATA7_000004 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 5 c.253C>T r.(?) p.(Arg85Trp) Both (homozygous) - pathogenic g.88883069C>T - c.253C>T - SPATA7_000004 - PubMed: Salmaninejad-202 - - Unknown - - - - - DNA SEQ-NG, PCR, SEQ blood WES retinal disease - PubMed: Salmaninejad-202 - - yes - Iranian - - - - 1 LOVD
+/. 5 c.253C>T r.(?) p.(Arg85*) Both (homozygous) - pathogenic g.88883069C>T - c.253C>T - SPATA7_000004 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 5 c.288T>A r.(?) p.(Cys96*) Both (homozygous) - pathogenic (recessive) g.88883104T>A g.88416760T>A - - SPATA7_000016 - PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - retinal disease MOL0401 PubMed: Sharon 2019 family M yes Israel Arab-Muslim - - - - 1 Dror Sharon
+/. - c.288T>A r.(?) p.(Cys96*) Both (homozygous) ACMG pathogenic (recessive) g.88883104T>A - - - SPATA7_000016 - PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease MOL0758 PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019 family - - Israel Arab-Muslim - - - - 1 Global Variome, with Curator vacancy
+/. - c.288T>A r.(?) p.(Cys96*) Unknown ACMG pathogenic g.88883104T>A - - - SPATA7_000016 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.288T>A r.(?) p.(Cys96Ter) Unknown - likely pathogenic g.88883104T>A g.88416760T>A - - SPATA7_000016 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1312 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.288T>A r.(?) p.(Cys96Ter) Unknown - likely pathogenic g.88883104T>A g.88416760T>A - - SPATA7_000016 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1397 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.288T>A r.(?) p.(Cys96Ter) Unknown - likely pathogenic g.88883104T>A g.88416760T>A - - SPATA7_000016 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1400 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.288T>A r.(?) p.(Cys96Ter) Unknown - likely pathogenic g.88883104T>A g.88416760T>A - - SPATA7_000016 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1673 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. 5 c.288T>A r.(?) p.(Cys96*) Both (homozygous) - pathogenic (recessive) g.88883104T>A - c.288T>A - SPATA7_000016 - PubMed: Colombo-2020 - rs767745816 Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+?/. - c.288T>A r.(?) p.(Cys96*) Both (homozygous) - likely pathogenic g.88883104T>A g.88416760T>A SPATA7 c.288T>A, (p.Cys96*) - SPATA7_000016 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease 32 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - 1 LOVD
+?/. - c.296_297del r.(?) p.(Glu99Valfs*5) Both (homozygous) ACMG likely pathogenic g.88883112_88883113del g.88416768_88416769del - - SPATA7_000005 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - LCA3 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. 5 c.322C>T r.(?) p.(Arg108*) Parent #2 - pathogenic g.88883138C>T g.88416794C>T - - SPATA7_000001 - PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+/. - c.322C>T r.(?) p.(Arg108Ter) Unknown - pathogenic g.88883138C>T g.88416794C>T SPATA7(NM_018418.5):c.322C>T (p.R108*) - SPATA7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.322C>T r.(?) p.(Arg108*) Parent #1 - pathogenic g.88883138C>T g.88416794C>T - - SPATA7_000001 - - - - Germline yes - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - F - - - - - - - 2 Marta de Castro-Miró
+/. - c.322C>T r.(?) p.(Arg108*) Parent #1 - pathogenic g.88883138C>T g.88416794C>T - - SPATA7_000001 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - RD - - - F - - - - - - - 1 Marta de Castro-Miró
+/. - c.322C>T r.(?) p.(Arg108Ter) Unknown - pathogenic g.88883138C>T g.88416794C>T SPATA7(NM_018418.5):c.322C>T (p.R108*) - SPATA7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.322C>T r.(?) p.(Arg108*) Both (homozygous) - pathogenic g.88883138C>T g.88416794C>T - - SPATA7_000001 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 169 PubMed: Zenteno 2020 family - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.322C>T r.(?) p.(Arg108Ter) Parent #1 - pathogenic (recessive) g.88883138C>T g.88416794C>T - - SPATA7_000001 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP236 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+/. 5 c.322C>T r.(?) p.(Gln108*) Both (homozygous) - pathogenic g.88883138C>T - c.322C>T - SPATA7_000001 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+?/. - c.322C>T r.(?) p.(Arg108*) Maternal (confirmed) - likely pathogenic g.88883138C>T g.88416794C>T SPATA7 c.322C>T, p.R108X - SPATA7_000001 heterozygous PubMed: Perrault 2010 - - Germline yes - - - - DNA SEQ - - retinal disease 4 PubMed: Perrault 2010 Family 3 F - France Polish, French - - - - 1 LOVD
+?/. - c.322C>T r.(?) p.(Arg108*) Both (homozygous) - likely pathogenic g.88883138C>T g.88416794C>T SPATA7 c.322C>T, p.R108* - SPATA7_000001 homozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease F06-II:1 PubMed: Xiao 2019 family ZOCF06-new M - China - - - - - 1 LOVD
+?/. - c.322C>T r.(?) p.(Arg108*) Parent #1 - likely pathogenic g.88883138C>T g.88416794C>T SPATA7 c.322C>T, p.R108* - SPATA7_000001 heterozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease F07-II:1 PubMed: Xiao 2019 family ZOCF07-PMID 24938718- RP236 M - China - - - - - 1 LOVD
+/. - c.341del r.(?) p.(Asn114IlefsTer23) Parent #1 - pathogenic g.88883157del g.88416813del - - SPATA7_000064 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 86 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. - c.352C>T r.(?) p.(Leu118Phe) Unknown - VUS g.88883168C>T g.88416824C>T - - SPATA7_000067 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP223 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
?/. - c.366A>T r.(?) p.(Leu122Phe) Unknown - VUS g.88883182A>T g.88416838A>T - - SPATA7_000073 - PubMed: Wang 2014 - rs150093878 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 60 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
+/. 5 c.367C>T r.(?) p.(His123Tyr) Unknown - pathogenic g.88883183C>T - c.367C>T - SPATA7_000075 - PubMed: li 2011 - - Germline - 2/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M no China Chinese - - - - 1 LOVD
+?/. - c.367C>T r.(?) p.(Gln123*) Parent #1 - likely pathogenic g.88883183C>T g.88416839C>T SPATA7 c.367C>T, p.Q123* - SPATA7_000075 heterozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG - targeted exome sequencing retinal disease F02-II:1 PubMed: Xiao 2019 family ZOCF02-new F - China - - - - - 1 LOVD
+?/. - c.367C>T r.(?) p.(Gln123*) Both (homozygous) - likely pathogenic g.88883183C>T g.88416839C>T SPATA7 c.367C>T, p.Q123* - SPATA7_000075 homozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease F05-II:1 PubMed: Xiao 2019 family ZOCF05-new F - China - - - - - 1 LOVD
+/. - c.373-1G>A r.spl p.? Parent #2 - pathogenic g.88892575G>A g.88426231G>A - - SPATA7_000065 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 86 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
?/. - c.382G>A r.(?) p.(Glu128Lys) Unknown - VUS g.88892585G>A g.88426241G>A - - SPATA7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387G>A r.(?) p.(Pro129=) Unknown - likely benign g.88892590G>A g.88426246G>A SPATA7(NM_018418.4):c.387G>A (p.P129=) - SPATA7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.388C>T r.(?) p.(Gln130*) Maternal (confirmed) - pathogenic (recessive) g.88892591C>T g.88426247C>T - - SPATA7_000042 - - - - Germline - - - - - DNA SEQ-NG blood Targeted gene panel LCA - - - F no Korea - - - - - 1 Jinu Han
?/. 6 c.388C>T r.(?) p.(Gln130*) Unknown - likely pathogenic (recessive) g.88892591C>T g.88426247C>T - - SPATA7_000042 - - - - Unknown - - - - - DNA SEQ-NG blood WES LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. - c.388C>T r.(?) p.(Gln130*) Unknown ACMG pathogenic g.88892591C>T - - - SPATA7_000042 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_GH_0066 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.388C>T r.(?) p.(Gln130*) Unknown ACMG pathogenic g.88892591C>T - - - SPATA7_000042 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0119 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.388C>T r.(?) p.(Gln130*) Maternal (confirmed) ACMG pathogenic (recessive) g.88892591C>T g.88426247C>T c.388C>T:p.(Gln130*) - SPATA7_000042 compound heterozygous PubMed: Surl 2020, PubMed: Moon 2021 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 35;Pat82 PubMed: Surl 2020, PubMed: Moon 2021 - F - Korea - - - - - 1 LOVD
+?/. - c.388C>T r.(?) p.(Gln130*) Maternal (confirmed) ACMG likely pathogenic (recessive) g.88892591C>T g.88426247C>T c.388C>T:p.(Glu130*) - SPATA7_000042 error in annotation: c.388C>T causes p.(Gln130*) and not p.(Glu130*), compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 42 PubMed: Surl 2020 individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database M - Korea - - - - - 1 LOVD
+/. - c.487A>T r.(?) p.(Lys163Ter) Parent #2 - pathogenic (recessive) g.88892690A>T g.88426346A>T - - SPATA7_000071 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-039-096 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+?/. 6 c.506del r.(?) p.(Thr169Lysfs*25) Both (homozygous) - likely pathogenic g.88892709del g.88426365del c.506del, p.(Thr169Lysfs*25) - SPATA7_000085 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066878 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
-/. - c.534C>G r.(?) p.(Ser178=) Unknown - benign g.88892737C>G g.88426393C>G SPATA7(NM_018418.5):c.534C>G (p.S178=) - SPATA7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.610A>G r.(?) p.(Arg204Gly) Unknown - VUS g.88892813A>G g.88426469A>G - - SPATA7_000027 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs766703283 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. 6 c.631del r.(?) p.(His211Thrfs*5) Parent #2 - pathogenic (recessive) g.88892834del g.88426490del 631delC - SPATA7_000023 - - - - Germline yes - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - F - - - - - - - 2 Marta de Castro-Miró
+?/. - c.644_647delTAGT r.(?) p.(Leu215Serfs*30) Both (homozygous) - likely pathogenic g.88892847_88892850del g.88426503_88426506del SPATA7 c.644_647delTAGT, p.L215Sfs*30 - SPATA7_000095 homozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ-NG - whole exome sequencing retinal disease F03-II:1 PubMed: Xiao 2019 family ZOCF03-PMID: 27375279- QT1237 F - China - - - - - 1 LOVD
+?/. - c.644_647delTAGT r.(?) p.(Leu215Serfs*30) Both (homozygous) - likely pathogenic g.88892847_88892850del g.88426503_88426506del SPATA7 c.644_647delTAGT, p.L215Sfs*30 - SPATA7_000095 homozygous PubMed: Xiao 2019 - - Germline yes - - - - DNA SEQ - - retinal disease F03-II:2 PubMed: Xiao 2019 family ZOCF03-new M - China - - - - - 1 LOVD
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