Full data view for gene TULP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_003322.3 transcript reference sequence.

555 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Disease     

ID_report     

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Panel size     

Owner     
+?/. - c.-349_999+49del r.spl p.(?) Unknown - likely pathogenic g.35473731_35480984del g.35505954_35513207del TULP1 chr6:35473733_35480986del - TULP1_000153 range 7116-7252 bp in various techniques, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease OGI2868_004453 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
-?/. - c.-5G>C r.(?) p.(=) Unknown - likely benign g.35480640C>G g.35512863C>G TULP1(NM_003322.6):c.-5G>C - TULP1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - del ex9-13 - LAMA2_000000 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP025 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - p.p.TULP1-F529_A530dup - LAMA2_000000 - PubMed: Schorderet-2013 - - Germline yes - - - - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - 1 LOVD
+?/. 1 c.3G>A r.(?) p.(Met1?) Unknown - likely pathogenic g.35480633C>T g.35512856C>T G3A - TULP1_000129 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#016 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
-?/. - c.30G>A r.(?) p.(Glu10=) Unknown - likely benign g.35480606C>T g.35512829C>T TULP1(NM_003322.5):c.30G>A (p.E10=) - TULP1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.43G>A r.(?) p.(Asp15Asn) Unknown - likely pathogenic g.35480593C>T - - - TULP1_000103 - PubMed: Jinda 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease RP038 PubMed: Jinda 2014 - M - Thailand - - - - - 1 Johan den Dunnen
+?/. - c.43G>A r.(?) p.(Asp15Asn) Unknown - likely pathogenic (recessive) g.35480593C>T g.35512816C>T - - TULP1_000103 - PubMed: Jinda 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP038 PubMed: Jinda 2017 patient - - Thailand - - - - - 1 LOVD
+?/? 2i c.99+1G>A r.spl? p.? Maternal (confirmed) - likely pathogenic g.35480415C>T g.35512638C>T IVS2+1, G->A - TULP1_000001 - PubMed: Hagstrom 1998 - - Germline - - - - - DNA SSCA, PCRdig, SEQ, PAGE - - RPar - PubMed: Hagstrom 1998 2 generation family 1 affected, 5 carrier F no United States - - - - - 1 Raheel Qamar
+/? 2i c.99+1G>A r.spl? p.? Paternal (confirmed) - pathogenic g.35480415C>T g.35512638C>T IVS2+1G>A - TULP1_000001 - PubMed: Banerjee 1998 - - Germline - - - - - DNA PCR, SEQ, SSCA, PAGE - - RPar - PubMed: Banerjee 1998 - M no United States - - - - - 1 Raheel Qamar
+/? 2i c.99+1G>A r.spl? p.? Parent #1 - pathogenic g.35480415C>T g.35512638C>T c.99+1G>A - TULP1_000001 - PubMed: Hanein 2004 - - Germline - - - - - DNA SEQ, PCR, DHPLC - - LCA15 - PubMed: Hanein 2004 - - - Italy - - - - - 1 Raheel Qamar
+?/. 2i c.99+3A>G r.(?) p.? Both (homozygous) - likely pathogenic g.35480413T>C - IVS2+3A>G - TULP1_000106 - PubMed: Mandal 2005 - - Germline - - - - - DNA arraySEQ blood - retinal disease - PubMed: Mandal 2005 - - - - - - - - - 1 Julia Lopez
-/. - c.99+12C>A r.(=) p.(=) Unknown - benign g.35480404G>T g.35512627G>T TULP1(NM_003322.6):c.99+12C>A - TULP1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100-10C>T r.(=) p.(=) Unknown - likely benign g.35480057G>A g.35512280G>A TULP1(NM_003322.5):c.100-10C>T, TULP1(NM_003322.6):c.100-10C>T - TULP1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100-10C>T r.(=) p.(=) Unknown - likely benign g.35480057G>A g.35512280G>A TULP1(NM_003322.5):c.100-10C>T, TULP1(NM_003322.6):c.100-10C>T - TULP1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.100C>T r.(?) p.(Arg34*) Parent #2 - likely pathogenic g.35480047G>A g.35512270G>A - - TULP1_000118 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP086 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. 3 c.147del r.(?) p.(Glu50AsnfsTer59) Parent #1 ACMG likely pathogenic g.35480004del g.35512227del - - TULP1_000183 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA12-12851 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.148del r.(?) p.(Glu50Asnfs*59) Both (homozygous) - likely pathogenic (recessive) g.35479999del g.35512222del - - TULP1_000064 - PubMed: Avela 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat30 PubMed: Avela 2018 - - - Finland - - - - - 1 LOVD
+?/. 3 c.148del r.(?) p.(Glu50Asnfs*45) Both (homozygous) - likely pathogenic g.35479999del - c.148delG - TULP1_000064 Check also: Avela 2018 PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. 3 c.148del r.(?) p.(Glu50Asnfs*45) Both (homozygous) - likely pathogenic g.35479999del - c.148delG - TULP1_000064 Check also: Avela 2018 PubMed: Avela 2019 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+?/. - c.148del r.(?) p.(Glu50Asnfs*59) Both (homozygous) - likely pathogenic g.35479999del g.35512222del TULP1 c.148delG - TULP1_000064 no protein annotation; homozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 16a PubMed: Avela 2019 Family 16, invidivual a ? - Finland - - - - - 1 LOVD
+?/. - c.148del r.(?) p.(Glu50Asnfs*59) Both (homozygous) - likely pathogenic g.35479999del g.35512222del TULP1 c.148delG - TULP1_000064 no protein annotation; homozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 16b PubMed: Avela 2019 Family 16, invidivual b ? - Finland - - - - - 1 LOVD
+?/. - c.180del r.(?) p.(Lys61SerfsTer48) Unknown - likely pathogenic g.35479968del g.35512191del - - TULP1_000123 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 09DG01106 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
?/. - c.184C>T r.(?) p.(Pro62Ser) Unknown - VUS g.35479963G>A g.35512186G>A TULP1(NM_003322.5):c.184C>T (p.P62S) - TULP1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.187G>T r.(?) p.(Gly63*) Both (homozygous) ACMG pathogenic g.35479960C>A g.35512183C>A TULP1 NM_003322: g.756G>T, c.187G>T, p.G63X - TULP1_000150 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19032 PubMed: Xu 2020 - ? yes China - - - - - 1 LOVD
+/. - c.187G>T r.(?) p.(Gly63*) Parent #1 ACMG pathogenic g.35479960C>A g.35512183C>A TULP1 c.[187G>T];[499+5G>C], V1: c.187G>T, (p.Gly63Ter) - TULP1_000150 alleles in trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F039 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.187G>T r.(?) p.(Gly63Ter) Parent #1 - pathogenic g.35479960C>A g.35512183C>A TULP1 c.[187G>T];[499+5G>C]; p.(Gly63Ter) - TULP1_000150 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.001214; GnomAD_exome_East: 0.000482; GnomAD_All: 0.0000533 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F039 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. 3i c.190+1G>A r.spl? p.(?) Both (homozygous) - likely pathogenic g.35479956C>T - c.190+1G>A - TULP1_000174 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
-?/. - c.190+6C>T r.(=) p.(=) Unknown - likely benign g.35479951G>A g.35512174G>A TULP1(NM_003322.5):c.190+6C>T, TULP1(NM_003322.6):c.190+6C>T - TULP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.190+6C>T r.(=) p.(=) Unknown - likely benign g.35479951G>A - TULP1(NM_003322.5):c.190+6C>T, TULP1(NM_003322.6):c.190+6C>T - TULP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.190+20C>T r.(=) p.(=) Unknown - likely benign g.35479937G>A - TULP1(NM_003322.6):c.190+20C>T - TULP1_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.200C>G r.(?) p.(Thr67Arg) Unknown - benign g.35479574G>C g.35511797G>C TULP1(NM_003322.6):c.200C>G (p.T67R) - TULP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.200C>G r.(?) p.(Thr67Arg) Unknown - benign g.35479574G>C g.35511797G>C TULP1(NM_003322.6):c.200C>G (p.T67R) - TULP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.200C>G r.(?) p.(Thr67Arg) Unknown - benign g.35479574G>C g.35511797G>C - - TULP1_000060 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs7764472 Germline - 287/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 287 Yoshito Koyanagi
-/. - c.200C>G r.(?) p.(Thr67Arg) Both (homozygous) - benign g.35479574G>C g.35511797G>C - - TULP1_000060 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs7764472 Germline - 891/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 891 Yoshito Koyanagi
-/? 4 c.200G r.(?) p.(=) Both (homozygous) - benign g.35479574G - AGG->ACG / p.(Arg67Thr) - TULP1_000005 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Banerjee 1998 - - Germline - 2/26 chromosomes (0.08) - - - DNA PCR, SEQ, SSCA, PAGE - - - - PubMed: Banerjee 1998 ? ? ? Dominican Republic - - - - - 1 Raheel Qamar
-?/? 4 c.200G r.(?) p.(=) Both (homozygous) - likely benign g.35479574G - Arg67Thr - TULP1_000005 Linkage Analysis Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Gu 1998 - - Germline - - - - - DNA RT-PCR, SEQ, SSCA - - RPar - PubMed: Gu 1998 - ? - Germany - - - - - 1 Raheel Qamar
-?/? 4 c.200G r.(?) p.(=) Both (homozygous) - likely benign g.35479574G - AGG->ACG / p.(Arg67Thr) - TULP1_000005 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Hagstrom 1998 - - Germline - - - - - DNA SSCA, PCRdig, SEQ, PAGE - - retinal disease - PubMed: Hagstrom 1998 2 generation family 1 affected, 5 carrier M no - - - - - - 1 Raheel Qamar
+?/. 4 c.211_212dup r.(?) p.(Asp71Glufs*25) Unknown - likely pathogenic (recessive) g.35479562_35479563dup - c.212_213insCG - TULP1_000162 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
-?/. - c.226C>G r.(?) p.(Pro76Ala) Unknown - likely benign g.35479548G>C - TULP1(NM_003322.5):c.226C>G (p.P76A) - TULP1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.248C>A r.(?) p.(Ala83Glu) Unknown - VUS g.35479526G>T g.35511749G>T - - TULP1_000076 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs765249939 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. 4 c.280G>T r.(?) p.(Asp94Tyr) Both (homozygous) - pathogenic g.35479494C>A - c.280G>T - TULP1_000143 - PubMed: Beryozkin-2014 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Beryozkin-2014 - - yes - Arab-Muslim - - - - 1 LOVD
+?/. - c.286_287delGA r.(?) p.(Glu96Glyfs*77) Both (homozygous) - likely pathogenic g.35479487_35479488del g.35511710_35511711del TULP1 c.286_287delGA (p.E96Gfs77*) - TULP1_000164 homozygous PubMed: Ullah 2016 - - Germline yes - - - - DNA SEQ, STR - - retinal disease PKRP364 _10 PubMed: Ullah 2016 family PKRP364 , individual 10 M - Pakistan - - - - - 1 LOVD
+?/. - c.286_287delGA r.(?) p.(Glu96Glyfs*77) Both (homozygous) - likely pathogenic g.35479487_35479488del g.35511710_35511711del TULP1 c.286_287delGA (p.E96Gfs77*) - TULP1_000164 homozygous PubMed: Ullah 2016 - - Germline yes - - - - DNA SEQ, STR - - retinal disease PKRP364 _20 PubMed: Ullah 2016 family PKRP364 , individual 20 M - Pakistan - - - - - 1 LOVD
-?/. 4 c.310del r.(?) p.(Glu104Lysfs*5) Unknown - likely benign g.35479464delC - c.310delG - TULP1_000140 - PubMed: Chen-2013 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
+?/. - c.349G>A r.(?) p.(Glu117Lys) Parent #1 - likely pathogenic g.35479425C>T g.35511648C>T - - TULP1_000117 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP025 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.349G>A r.spl p.(Glu117Lys) Parent #2 - pathogenic g.35479425C>T g.35511648C>T - - TULP1_000117 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6131 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+/. - c.349G>A r.spl p.(Glu117Lys) Both (homozygous) - pathogenic g.35479425C>T g.35511648C>T - - TULP1_000117 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6326 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) - likely pathogenic g.35479425C>T g.35511648C>T TULP1 c.349G>A, p.E117K - TULP1_000117 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 104 PubMed: Jauregui 2020 - M - (United States) Asian - - - - 1 LOVD
?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) ACMG VUS g.35479425C>T g.35511648C>T TULP1 c.G349A, p.E117K - TULP1_000117 marked as causative, homozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 26 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/? 4i_5 c.350-2_350del r.(?) p.? Maternal (confirmed) - pathogenic g.35478787_35478789del g.35511010_35511012del IVS4-2delAGA - TULP1_000006 - PubMed: Paloma 2000 - - Germline - - MspI+ - - DNA PCRdig, SEQ, SSCA, PAGE - - RPar - PubMed: Paloma 2000 - F ? Spain Spainish - - - - 1 Raheel Qamar
+?/. - c.361G>T r.(?) p.(Glu121*) Unknown ACMG likely pathogenic g.35478776C>A g.35510999C>A TULP1 c.361G>T, p.(Glu121*) - TULP1_000142 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 473 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.370G>A r.(?) p.(Asp124Asn) Unknown - VUS g.35478767C>T g.35510990C>T - - TULP1_000075 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs565455738 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.371_394del r.(?) p.(Asp124_Glu131del) Unknown - VUS g.35478756_35478779del g.35510979_35511002del TULP1(NM_003322.5):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del), TULP1(NM_003322.6):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del) - TULP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371_394del r.(?) p.(Asp124_Glu131del) Unknown - VUS g.35478756_35478779del g.35510979_35511002del TULP1(NM_003322.5):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del), TULP1(NM_003322.6):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del) - TULP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371_394del r.(?) p.(Asp124_Glu131del) Unknown - VUS g.35478756_35478779del g.35510979_35511002del - - TULP1_000058 no genotypes reported PubMed: Sergouniotis 2016 - rs281865169 Germline - 2/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 2 LOVD
+/. 5 c.371_394del r.(?) p.(Pro125_Glu132del) Unknown - pathogenic g.35478743_35478766del - c.371_394del - TULP1_000058 Unknown 2nd allele PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
+/. 5 c.371_394del r.(?) p.(Pro125_Glu132del) Unknown - pathogenic g.35478743_35478766del - c.371_394del - TULP1_000058 Unknown 2nd allele PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
?/. - c.371_394del r.(?) p.(Asp124_Glu131del) Unknown ACMG VUS g.35478756_35478779del g.35510979_35511002del TULP1:NM_003322 c.371_394del, p.D124_E131del - TULP1_000058 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-315 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.371_394del r.(?) p.(Asp124_Glu131del) Unknown - VUS g.35478756_35478779del - TULP1(NM_003322.5):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del), TULP1(NM_003322.6):c.371_394delACGAGGAGGACGAGGAAGAGGAGG (p.D124_E131del) - TULP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.373G>T r.(?) p.(Glu125*) Both (homozygous) - likely pathogenic g.35478764C>A - c.373G>T - TULP1_000173 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.378_386del r.(?) p.(Asp127_Glu129del) Unknown - VUS g.35478765_35478773del - TULP1(NM_003322.6):c.378_386delGGACGAGGA (p.D127_E129del) - TULP1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378_386dup r.(?) p.(Asp127_Glu129dup) Unknown - benign g.35478765_35478773dup g.35510988_35510996dup TULP1(NM_003322.5):c.378_386dupGGACGAGGA (p.D127_E129dup) - TULP1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.394_417del r.(?) p.(Glu132_Thr139del) Parent #1 - pathogenic g.35478720_35478743del g.35510943_35510966del 394del24 E120-D127del - TULP1_000008 - PubMed: Gu 1998 - - Germline - - - - - DNA RT-PCR, SEQ, SSCA - - retinal disease - PubMed: Gu 1998 - ? - Germany - - - - - 1 Raheel Qamar
+/? 5 c.394_417del r.(?) p.(Glu132_Thr139del) Parent #1 - pathogenic g.35478720_35478743del g.35510943_35510966del 394del24 E120-D127del - TULP1_000008 - PubMed: Paloma 2000 - - Germline - 2/50 controls - - - DNA RT-PCR, SEQ, SSCA - - retinal disease - PubMed: Paloma 2000 - ? ? - - - - - - 1 Raheel Qamar
+/. - c.447_448del r.(?) p.(Lys150GlufsTer23) Unknown - pathogenic g.35478695_35478696del g.35510918_35510919del TULP1(NM_003322.6):c.447_448delGA (p.K150Efs*23) - TULP1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.450_451insCT r.(?) p.(Glu151Leufs*34) Unknown - likely pathogenic (recessive) g.35478686_35478687insAG - c.450_451insCT - TULP1_000161 - PubMed: Colombo-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
+/. - c.487C>T r.(?) p.(Gln163*) Parent #2 - pathogenic g.35478650G>A g.35510873G>A - - TULP1_000114 - PubMed: Comander 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat33 PubMed: Comander 2017 proband F - United States - - - - - 1 Johan den Dunnen
?/. - c.499+5G>C r.spl? p.(?) Parent #2 ACMG VUS g.35478633C>G g.35510856C>G TULP1 c.[187G>T];[499+5G>C], V2: c.499+5G>C, - TULP1_000163 alleles in trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F039 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.499+5G>C r.spl? p.? Parent #2 - VUS g.35478633C>G g.35510856C>G TULP1 c.[187G>T];[499+5G>C]; p.? - TULP1_000163 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0; GnomAD_exome_East: 0.000218; GnomAD_All: 0.0000637 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F039 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
-?/. - c.499+12G>C r.(=) p.(=) Unknown - likely benign g.35478626C>G g.35510849C>G TULP1(NM_003322.6):c.499+12G>C - TULP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.523C>G r.(?) p.(Pro175Ala) Unknown - likely benign g.35477682G>C g.35509905G>C TULP1(NM_003322.5):c.523C>G (p.P175A) - TULP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.524dup r.(?) p.(Pro176Thrfs*7) Maternal (confirmed) - likely pathogenic (recessive) g.35477686dup g.35509909dup - - TULP1_000113 no variant 2nd chromosome PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1620 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.524dupC r.(?) p.(Pro176Thrfs*7) Both (homozygous) - likely pathogenic g.35477686dup g.35509909dup TULP1 c.524dupC, p.(Pro176Thrfs*7) - TULP1_000113 homozygous - maternal uniparental isodisomy PubMed: Souzeau 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ - disease-specific IRD next-generation sequencing SmartPanel (250 genes) v9 retinal disease ? PubMed: Souzeau 2018 - F no - Italian - - - - 1 LOVD
?/. - c.527C>A r.(?) p.(Pro176Gln) Unknown - VUS g.35477678G>T g.35509901G>T TULP1(NM_003322.6):c.527C>A (p.P176Q) - TULP1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527dup r.(?) p.(Lys177GlufsTer6) Parent #1 - VUS g.35477679dup g.35509902dup - - TULP1_000126 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 98 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.528_529insT r.(?) p.(Lys177*) Unknown ACMG pathogenic g.35477676_35477677insA - - - TULP1_000102 - 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.538C>T r.(?) p.(Arg180Cys) Unknown - VUS g.35477667G>A g.35509890G>A TULP1(NM_003322.5):c.538C>T (p.R180C) - TULP1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538C>T r.(?) p.(Arg180Cys) Unknown - VUS g.35477667G>A g.35509890G>A - - TULP1_000055 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs139588263 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.539G>A r.(?) p.(Arg180His) Unknown - likely benign g.35477666C>T - TULP1(NM_003322.5):c.539G>A (p.R180H) - TULP1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.539G>A r.(?) p.(Arg180His) Unknown - likely pathogenic g.35477666C>T - c.539G.A - TULP1_000105 - PubMed: González-del Pozo-2011 - - Germline - 0/200 controls - - - DNA arraySEQ, MLPA - - retinal disease - PubMed: González-del Pozo-2011 - - - - Spanish - - - - 1 LOVD
?/. - c.539G>A r.(?) p.(Arg180His) Unknown ACMG VUS g.35477666C>T g.35509889C>T TULP1:NM_003322 c.G539A, p.R180H - TULP1_000105 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RP-1943 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+/. - c.568G>T r.(?) p.(Glu190*) Both (homozygous) - pathogenic g.35477637C>A g.35509860C>A 586G>T - TULP1_000091 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.568G>T r.(?) p.(Glu190Ter) Both (homozygous) ACMG pathogenic (recessive) g.35477637C>A g.35509860C>A - - TULP1_000091 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 987369 - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-380 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.592A>T r.(?) p.(Lys198Ter) Unknown - likely pathogenic g.35477613T>A g.35509836T>A TULP1(NM_003322.5):c.592A>T (p.K198*) - TULP1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601+4A>G r.spl? p.? Unknown - likely benign g.35477600T>C g.35509823T>C TULP1(NM_003322.6):c.601+4A>G - TULP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.602-4G>A r.spl? p.? Unknown - likely benign g.35477531C>T - TULP1(NM_003322.5):c.602-4G>A - TULP1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>T r.(?) p.(Ala205=) Unknown - likely benign g.35477514G>A - TULP1(NM_003322.5):c.615C>T (p.A205=) - TULP1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.627del r.(?) p.(Ser210GlnfsTer27) Both (homozygous) - pathogenic g.35477505del g.35509728del - - TULP1_000125 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 74 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. 7 c.627del r.(?) p.(Ser209Argfs*48) Unknown - likely pathogenic (recessive) g.35477502del - c.627delC - TULP1_000125 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.629C>G r.(?) p.(Ser210*) Parent #1 - likely pathogenic g.35477500G>C g.35509723G>C TULP1, variant 1: c.629C>G/p.S210*, variant 2: c.629C>G/p.S210* - TULP1_000157 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 221 PubMed: Weisschuh 2020 Filing key number: 77, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
-?/. - c.630A>G r.(?) p.(Ser210=) Unknown - likely benign g.35477499T>C - TULP1(NM_003322.5):c.630A>G (p.S210=) - TULP1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.631G>A r.(?) p.(Gly211Arg) Unknown - VUS g.35477498C>T g.35509721C>T TULP1(NM_003322.5):c.631G>A (p.G211R) - TULP1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659C>T r.(?) p.(Pro220Leu) Unknown ACMG VUS g.35477470G>A g.35509693G>A TULP1:NM_003322 c.C659T, p.P220L - TULP1_000151 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-191 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/? 9i c.718+2T>C r.(spl?) p.? Both (homozygous) - likely pathogenic g.35477409A>G g.35509632A>G c.718+2T>C - TULP1_000009 - PubMed: den Hollander 2007 - - Germline - - - - - DNA arraySNP, PCR, SEQ - - LCA15 - PubMed: den Hollander 2007 ? F yes Afghanistan - - - - - 1 Raheel Qamar
+?/? 9i c.718+2T>C r.(spl?) p.? Both (homozygous) - likely pathogenic g.35477409A>G g.35509632A>G c.718+2T>C - TULP1_000009 - PubMed: den Hollander 2007 - - Germline - - - - - DNA arraySNP, PCR, SEQ - - LCA15 - PubMed: den Hollander 2007 - M yes Afghanistan - - - - - 1 Raheel Qamar
+/. - c.718+23G>A r.(=) p.(=) Unknown - pathogenic g.35477388C>T - TULP1(NM_003322.6):c.718+23G>A - TULP1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.718+23G>A r.718_719insGTGGATGGCAAGGGCTTCTG p.(Thr241Glyfs*23) Maternal (confirmed) - likely pathogenic g.35477388C>T g.35509611C>T TULP1 c.718+23G>A - TULP1_000096 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing in two siblings in whom a single pathogenic variant in TULP1 was found previously retinal disease ? PubMed: Verbakel 2019 - M - Netherlands - - - - - 1 LOVD
+?/. - c.718+23G>A r.718_719insGTGGATGGCAAGGGCTTCTG p.(Thr241Glyfs*23) Maternal (confirmed) - likely pathogenic g.35477388C>T g.35509611C>T TULP1 c.718+23G>A - TULP1_000096 heterozygous PubMed: Verbakel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing in two siblings in whom a single pathogenic variant in TULP1 was found previously retinal disease ? PubMed: Verbakel 2019 - F - Netherlands - - - - - 1 LOVD
-?/? 8i c.719-19T>A r.(?) p.(=) Both (homozygous) - likely benign g.35477108A>T g.35509331A>T IVS7-19T/TTGTTTC->TTGATTC - TULP1_000010 - PubMed: Hagstrom 1998 - - Germline - - - - - DNA SSCA, PCRdig, SEQ, PAGE - - - - PubMed: Hagstrom 1998 ? ? ? United States - - - - - 1 Raheel Qamar
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