Full data view for gene SAG

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000541.4 transcript reference sequence.

170 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.-28-4_-25del r.spl? p.? Unknown - VUS g.234217804_234217811del g.233309158_233309165del SAG(NM_000541.4):c.-28-4_-25delCAAGGTGG - SAG_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_2i c.-25_75+3124del r.0? p.0? Paternal (confirmed) - pathogenic (recessive) g.234217811_234221034del g.233309165_233312388del - - SAG_000040 - PubMed: Huang 2012 - - Germline - - - - - DNA SEQ - - CSNB - PubMed: Huang 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
?/. - c.31G>A r.(?) p.(Glu11Lys) Unknown - VUS g.234217866G>A g.233309220G>A SAG(NM_000541.5):c.31G>A (p.E11K) - SAG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31G>A r.(?) p.(Glu11Lys) Unknown - VUS g.234217866G>A g.233309220G>A SAG(NM_000541.5):c.31G>A (p.E11K) - SAG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.31G>A r.(?) p.(Glu11Lys) Unknown - VUS g.234217866G>A - p.SAG-E11K - SAG_000002 - PubMed: Schorderet-2013 - - Unknown no - - - - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - 1 LOVD
-?/. - c.35C>T r.(?) p.(Pro12Leu) Unknown - likely benign g.234217870C>T g.233309224C>T SAG(NM_000541.5):c.35C>T (p.P12L) - SAG_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.72_75+15delATC GGTGAGTGGT GCACAA r.spl p.(?) Unknown - likely pathogenic g.55973730_55973731del g.54213970_54213971del different transcript: NM_001142763.1(PCDH15):c.1081_1082delGA; p.Asp361Leufs - SAG_000001 Ocular disease gene; heterozygous variant PubMed: Wan 2018 - - Unknown ? - - - - DNA SEQ-NG-I blood Whole-exome sequencing retinal disease R0021 PubMed: Wan 2018 - ? - China Han Chinese - - - - 1 LOVD
?/. - c.74C>T r.(?) p.(Ser25Leu) Unknown ACMG VUS g.234217909C>T g.233309263C>T SAG:NM_000541 c.C74T, p.S25L - SAG_000059 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-324 PubMed: Rodriguez-Munoz 2020 family fRPN-159, proband F - Spain - - - - - 1 LOVD
+?/. - c.75G>A r.(?) p.(Ser25=) Parent #1 - likely pathogenic g.234217910G>A g.233309264G>A SAG, variant 1: c.75G>A/p.?, variant 2: c.75G>A/p.? - SAG_000062 possibly solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 1005 PubMed: Weisschuh 2020 Filing key number: 483, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
-?/. - c.93G>A r.(?) p.(Gly31=) Unknown - likely benign g.234224738G>A g.233316092G>A SAG(NM_000541.4):c.93G>A (p.G31=) - SAG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.107T>C r.(?) p.(Ile36Thr) Unknown - likely pathogenic (recessive) g.234224752T>C g.233316106T>C - - SAG_000054 - PubMed: Xu 2014 - rs188789430 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP202 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
+?/. - c.136+2T>G r.spl p.(?) Parent #1 - likely pathogenic g.234224783T>G g.233316137T>G SAG, variant 1: c.136+2T>G/p.?, variant 2: c.806+4A>G/p.? - SAG_000063 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1231 PubMed: Weisschuh 2020 Filing key number: 979, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.180A>G r.(?) p.(=) Unknown - VUS g.234227440A>G - SAG(NM_000541.5):c.180A>G (p.(Lys60=)) - SAG_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.181+82A>G r.(=) p.(=) Unknown - benign g.234227523A>G g.233318877A>G SAG(NM_000541.5):c.181+82A>G - SAG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.182-2A>G r.spl? p.? Unknown - VUS g.234229274A>G g.233320628A>G SAG(NM_000541.5):c.182-2A>G - SAG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201C>T r.(=) p.(=) Parent #1 - likely benign g.234229295C>T g.233320649C>T - - SAG_000046 69 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72976383 Germline - 69/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 69 Mohammed Faruq
-?/. - c.201C>T r.(=) p.(=) Both (homozygous) - likely benign g.234229295C>T g.233320649C>T - - SAG_000046 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72976383 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.212A>C r.(?) p.(Tyr71Ser) Unknown - VUS g.234229306A>C - SAG(NM_000541.4):c.212A>C (p.Y71S) - SAG_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.226A>G r.(?) p.(Ile76Val) Unknown - benign g.234229320A>G g.233320674A>G - - SAG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.226A>G r.(?) p.(Ile76Val) Unknown - benign g.234229320A>G g.233320674A>G - - SAG_000025 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs7565275 Germline - 156/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 156 Yoshito Koyanagi
-/. - c.226A>G r.(?) p.(Ile76Val) Both (homozygous) - benign g.234229320A>G g.233320674A>G - - SAG_000025 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs7565275 Germline - 14/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 14 Yoshito Koyanagi
-/. - c.231C>T r.(?) p.(Asp77=) Unknown - benign g.234229325C>T g.233320679C>T SAG(NM_000541.5):c.231C>T (p.D77=) - SAG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.238G>T r.(?) p.(Gly80Cys) Unknown - VUS g.234229332G>T g.233320686G>T - - SAG_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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.250C>T r.(?) p.(Arg84Cys) Unknown - benign g.234229344C>T g.233320698C>T SAG(NM_000541.5):c.250C>T (p.R84C) - SAG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.254G>C r.(?) p.(Arg85Thr) Unknown - VUS g.234229348G>C g.233320702G>C - - SAG_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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.271C>T r.(?) p.(Arg91Trp) Unknown - pathogenic g.234229365C>T g.233320719C>T - - SAG_000053 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat4 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
-?/. - c.300C>T r.(?) p.(Ala100=) Unknown - likely benign g.234229394C>T g.233320748C>T SAG(NM_000541.4):c.300C>T (p.A100=) - SAG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301G>A r.(?) p.(Ala101Thr) Unknown - benign g.234229395G>A g.233320749G>A SAG(NM_000541.4):c.301G>A (p.A101T), SAG(NM_000541.5):c.301G>A (p.A101T) - SAG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301G>A r.(?) p.(Ala101Thr) Unknown - benign g.234229395G>A g.233320749G>A SAG(NM_000541.4):c.301G>A (p.A101T), SAG(NM_000541.5):c.301G>A (p.A101T) - SAG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>A r.(?) p.(Ala101Thr) Unknown - VUS g.234229395G>A g.233320749G>A - - SAG_000010 - PubMed: Wang 2014 - rs141521563 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 58 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
-?/. - c.357G>A r.(?) p.(=) Unknown - likely benign g.234229451G>A - SAG(NM_000541.5):c.357G>A (p.T119=) - SAG_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.374C>T r.(?) p.(Thr125Met) Unknown - VUS g.234229468C>T g.233320822C>T Thr125Met - SAG_000028 - PubMed: Olivé 2015 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - candidate gene screening and WES CMH 25801283-FamPatIII4 PubMed: Olivé 2015 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M - Spain - - - - - 3 Johan den Dunnen
-?/. - c.374C>T r.(?) p.(Thr125Met) Unknown - likely benign g.234229468C>T g.233320822C>T SAG(NM_000541.4):c.374C>T (p.T125M), SAG(NM_000541.5):c.374C>T (p.T125M) - SAG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.374C>T r.(?) p.(Thr125Met) Unknown - VUS g.234229468C>T g.233320822C>T - - SAG_000028 - PubMed: Wang 2014 - rs137886124 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 61 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. 5 c.374C>T r.(?) p.(Thr125Met) Unknown - likely pathogenic g.234229468C>T - c.374C>T - SAG_000028 - PubMed: Eisenberger-2013 - rs137886124 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M ? Germany - - - - - 1 LOVD
+?/. 5 c.374C>T r.(?) p.(Thr125Met) Unknown - likely pathogenic g.234229468C>T - c.374C>T - SAG_000028 - PubMed: Eisenberger-2013 - rs137886124 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M yes Pakistan - - - - - 1 LOVD
?/. - c.374C>T r.(?) p.(Thr125Met) Unknown - VUS g.234229468C>T - SAG(NM_000541.4):c.374C>T (p.T125M), SAG(NM_000541.5):c.374C>T (p.T125M) - SAG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.374del r.(?) p.(Thr125SerfsTer10) Unknown - pathogenic g.234229468del g.233320822del SAG(NM_000541.5):c.374delC (p.T125Sfs*10) - SAG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375+11C>T r.(=) p.(=) Unknown - benign g.234229480C>T g.233320834C>T - - SAG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379C>T r.(?) p.(Pro127Ser) Unknown - VUS g.234231595C>T g.233322949C>T - - SAG_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.398C>T r.(?) p.(Ser133Leu) Both (homozygous) - pathogenic g.234231614C>T - c.398C>T: p. (Ser133Leu) - SAG_000067 - PubMed: Colombo 2019 - - Germline yes - - - - DNA SEQ-NG, PCR, SEQ peripheral blood - retinal disease - PubMed: Colombo 2019 - M - Italy - - - - - 1 LOVD
-?/. - c.420A>G r.(?) p.(Pro140=) Unknown - likely benign g.234231636A>G - SAG(NM_000541.4):c.420A>G (p.P140=) - SAG_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.436-18G>C r.(=) p.(=) Unknown - benign g.234235749G>C g.233327103G>C SAG(NM_000541.5):c.436-18G>C - SAG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.436-18G>C r.(?) p.(=) Maternal (confirmed) - benign g.234235749G>C g.233327103G>C IVS6-18G>C - SAG_000012 - PubMed: Huang 2012 - - Germline - - - - - DNA SEQ - - CSNB - PubMed: Huang 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
?/. - c.437C>A r.(?) p.(Ser146Tyr) Unknown - VUS g.234235768C>A g.233327122C>A - - SAG_000031 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - F - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - M - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - M - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - F - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - M - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - F - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - M - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - M - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - F - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - F - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - M - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - F - United States Hispanic - - - - 1 LOVD
+/. 7 c.440G>T r.(?) p.(Cys147Phe) Unknown - pathogenic g.234235771G>T - c.440G>T; p.Cys147Phe - SAG_000068 - PubMed: Sullivan 2017 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Sullivan 2017 - M - United States Hispanic - - - - 1 LOVD
+/. - c.440G>T r.(?) p.(Cys147Phe) Unknown ACMG pathogenic g.234235771G>T - - - SAG_000068 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-862338 rs753107507 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 2481622 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.440G>T r.(?) p.(Cys147Phe) Unknown ACMG pathogenic g.234235771G>T - - - SAG_000068 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1391715 rs753107507 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 2696538 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+/. - c.440G>T r.(?) p.(Cys147Phe) Unknown ACMG pathogenic g.234235771G>T - - - SAG_000068 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-3353 rs753107507 Germline yes - - - - DNA SEQ-NG-I BUCCAL SWAB - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 2725416 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - none 1 Rocio Villafuerte-de la Cruz
+?/. - c.442G>A r.(?) p.(Gly148Arg) Unknown - likely pathogenic (recessive) g.234235773G>A g.233327127G>A - - SAG_000055 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP297 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.468C>T r.(?) p.(=) Unknown - likely benign g.234235799C>T - SAG(NM_000541.5):c.468C>T (p.F156=) - SAG_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.473C>A r.(?) p.(Thr158Lys) Unknown - VUS g.234235804C>A g.233327158C>A SAG(NM_000541.4):c.473C>A (p.T158K), SAG(NM_000541.5):c.473C>A (p.T158K) - SAG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.473C>A r.(?) p.(Thr158Lys) Unknown - VUS g.234235804C>A g.233327158C>A SAG(NM_000541.4):c.473C>A (p.T158K), SAG(NM_000541.5):c.473C>A (p.T158K) - SAG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.473C>A r.(?) p.(Thr158Lys) Unknown - pathogenic g.234235804C>A g.233327158C>A - - SAG_000013 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat1 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+?/. 7 c.473C>A r.(?) p.(Thr158Lys) Unknown - likely pathogenic g.234235804C>A - c.473C>A - SAG_000013 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Eisenberger 2014 - M no Austria - - - - - 1 Rob W.J. Collin
-/. - c.489C>T r.(?) p.(Ala163=) Unknown - benign g.234235820C>T g.233327174C>T SAG(NM_000541.5):c.489C>T (p.A163=) - SAG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511A>G r.(?) p.(Lys171Glu) Unknown - VUS g.234235842A>G g.233327196A>G SAG(NM_000541.4):c.511A>G (p.K171E, p.(Lys171Glu)) - SAG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511A>G r.(?) p.(Lys171Glu) Unknown - likely benign g.234235842A>G g.233327196A>G SAG(NM_000541.4):c.511A>G (p.K171E, p.(Lys171Glu)) - SAG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(512+1_513-1)_(806+1_807-1)del r.(?) p.(?) Unknown ACMG likely pathogenic g.? g.? SAG c.(512+1_513-1) _(806+1_807-1)del, BBS9 c.1277_1280del, p.(Gln426Argfs*16) - SNRNP200_000007 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 466 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. 8 c.523C>T r.(?) p.(Arg175*) Maternal (confirmed) - pathogenic (recessive) g.234237134C>T g.233328488C>T 744C>T (Arg175*) - SAG_000037 - PubMed: Nakamura 2004 - - Germline - - - - - DNA SEQ - - CSNB FamAPatII1 PubMed: Nakamura 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - 1 Johan den Dunnen
?/. 8 c.523C>T r.(?) p.(Arg175*) Unknown - VUS g.234237134C>T - - - SAG_000037 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
-/. - c.525A>G r.(?) p.(Arg175=) Unknown - benign g.234237136A>G g.233328490A>G SAG(NM_000541.5):c.525A>G (p.R175=) - SAG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548A>G r.(?) p.(His183Arg) Unknown ACMG VUS g.234237159A>G g.233328513A>G SAG:NM_000541 c.A548G, p.H183R - SAG_000060 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-268 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+/. 8 c.577C>T r.(?) p.(Arg193*) Both (homozygous) - pathogenic (recessive) g.234237188C>T g.233328542C>T - - SAG_000036 - PubMed: Maw 1998 - rs201153410 Germline yes - - - - DNA SEQ, SSCA - - CSNB family PubMed: Maw 1998 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - India - - - - - 2 Johan den Dunnen
+/. 8 c.577C>T r.(?) p.(Arg193*) Maternal (confirmed) - pathogenic (recessive) g.234237188C>T g.233328542C>T - - SAG_000036 - PubMed: Huang 2012 - - Germline - - - - - DNA SEQ - - CSNB - PubMed: Huang 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
?/. 8 c.577C>T r.(?) p.(Arg193*) Unknown - VUS g.234237188C>T - - - SAG_000036 - PubMed: Zeitz-2009 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Zeitz-2009 - - - - - - - - - 1 LOVD
+/. 8 c.577C>T r.(?) p.(Arg193*) Both (homozygous) - pathogenic g.234237188C>T - c.577C>T - SAG_000036 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 8 c.577C>T r.(?) p.(Arg193*) Both (homozygous) - pathogenic g.234237188C>T - c.577C>T - SAG_000036 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 8 c.577C>T r.(?) p.(Arg193*) Both (homozygous) - pathogenic g.234237188C>T - c.577C>T - SAG_000036 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 8 c.577C>T r.(?) p.(Arg193*) Both (homozygous) - pathogenic g.234237188C>T - c.577C>T - SAG_000036 - PubMed: Avila Fernandez 2010 - - Germline - - - - - DNA PE blood - retinal disease - PubMed: Avila Fernandez 2010 - - - - Spanish - - - - 1 LOVD
+/. 8 c.577C>T r.(?) p.(Arg193*) Unknown - pathogenic g.234237188C>T - c.577C>T - SAG_000036 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
+?/. - c.577C>T r.(?) p.(Arg193*) Unknown - likely pathogenic g.234237188C>T g.233328542C>T c.577C>T, p.Arg193Ter - SAG_000036 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18070035_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+?/. 8 c.577C>T r.(?) p.(Arg193*) Both (homozygous) - likely pathogenic g.234237188C>T g.233328542C>T SAG Ex.8 c.577C>T p.(Arg193*), Ex.8 c.577C>T p.(Arg193*) - SAG_000036 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-0736 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 8 c.577C>T r.(?) p.(Arg193*) Both (homozygous) - likely pathogenic g.234237188C>T g.233328542C>T SAG Ex.8 c.577C>T p.(Arg193*), Ex.8 c.577C>T p.(Arg193*) - SAG_000036 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP - - retinal disease RP-1206 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 8 c.577C>T r.(?) p.(Arg193*) Both (homozygous) - likely pathogenic g.234237188C>T g.233328542C>T SAG Ex.8 c.577C>T p.(Arg193*), Ex.8 c.577C>T p.(Arg193*) - SAG_000036 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2791 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.577C>T r.(?) p.(Arg193*) Parent #1 - likely pathogenic g.234237188C>T g.233328542C>T SAG, variant 1: c.577C>T/p.R193* , variant 2: c.577C>T/p.R193* - SAG_000036 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 417 PubMed: Weisschuh 2020 Filing key number: 134, congenital stationary night blindness, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.577C>T r.(?) p.(Arg193*) Unknown - pathogenic g.234237188C>T - SAG(NM_000541.4):c.577C>T (p.R193*) - SAG_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.577C>T r.(?) p.(Arg193Ter) Unknown ACMG pathogenic (recessive) g.234237188C>T g.233328542C>T - - SAG_000036 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CSNB-152 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.577C>T r.(?) p.(Arg193Ter) Unknown ACMG pathogenic (recessive) g.234237188C>T g.233328542C>T - - SAG_000036 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1204 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-/. - c.588G>A r.(?) p.(Ala196=) Unknown - benign g.234237199G>A g.233328553G>A SAG(NM_000541.4):c.588G>A (p.A196=), SAG(NM_000541.5):c.588G>A (p.A196=) - SAG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588G>A r.(?) p.(Ala196=) Unknown - likely benign g.234237199G>A g.233328553G>A SAG(NM_000541.4):c.588G>A (p.A196=), SAG(NM_000541.5):c.588G>A (p.A196=) - SAG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.624C>A r.(?) p.(His208Gln) Unknown - VUS g.234237235C>A g.233328589C>A - - SAG_000056 - PubMed: Xu 2014 - rs183412440 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP341 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.681C>T r.(?) p.(Thr227=) Unknown - likely benign g.234238171C>T - SAG(NM_000541.5):c.681C>T (p.T227=) - SAG_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.682G>A r.(?) p.(Val228Met) Parent #1 - likely pathogenic g.234238172G>A g.233329526G>A SAG, variant 1: c.682G>A/p.V228M, variant 2 :Duplication exon 15-16 - SAG_000064 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1036 PubMed: Weisschuh 2020 Filing key number: 600, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
-/. 9i c.733+31T>G r.(?) p.(=) Both (homozygous) - benign g.234238254T>G g.233329608T>G IVS9+31T>G - SAG_000039 - PubMed: Huang 2012 - - Germline - - - - - DNA SEQ - - CSNB - PubMed: Huang 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
-?/. - c.734-18C>A r.(=) p.(=) Unknown - likely benign g.234240268C>A g.233331622C>A SAG(NM_000541.5):c.734-18C>A - SAG_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.778G>A r.(?) p.(Val260Ile) Unknown - likely benign g.234240330G>A - SAG(NM_000541.4):c.778G>A (p.V260I) - SAG_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787G>A r.(?) p.(Val263Met) Unknown - VUS g.234240339G>A - - - SAG_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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