Full data view for gene GUCY2D

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000180.3 transcript reference sequence.

128 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A GUCY2D(NM_000180.3):c.2513G>A (p.R838H) - GUCY2D_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - CORD - - - M - - - - - - - 1 Marta de Castro-Miró
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A GUCY2D(NM_000180.3):c.2513G>A (p.R838H) - GUCY2D_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - pathogenic (dominant) g.7918019G>A g.8014701G>A - - GUCY2D_000058 detected in affected mother and child, not in asymptomathic grandmother PubMed: Weigell-Weber 2000 ClinVar-9357 rs61750173 Germline yes - - - - DNA SEQ-NG-I blood WGS STGD - affected mother and child - F no Poland slavic >10y - yes - 1 Marzena Wojtaszewska
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 ACMG likely pathogenic (dominant) g.7918019G>A - - - GUCY2D_000058 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown ACMG pathogenic g.7918019G>A - - - GUCY2D_000058 - PubMed: Sharon 2019 - - Germline - 4/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 4 IRD families - - Israel - - - - - 4 Global Variome, with Curator vacancy
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown ACMG pathogenic g.7918019G>A - - - GUCY2D_000058 - 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.2513G>A r.(?) p.(Arg838His) Unknown ACMG pathogenic g.7918019G>A - - - GUCY2D_000058 - 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.2513G>A r.(?) p.(Arg838His) Parent #1 - pathogenic (dominant) g.7918019G>A - - - GUCY2D_000058 - PubMed: Lazar 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease MOL0859 PubMed: Lazar 2015 3-generation family, 2 affected (F, M) F;M - Israel Jewish-Ashkenazi - - - - 2 Global Variome, with Curator vacancy
+/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - pathogenic (dominant) g.7918019G>A - - - GUCY2D_000058 - PubMed: Lazar 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease MOL0083 PubMed: Lazar 2015 4-generation family, 6 affected (3F, 3M) F;M - Israel Jewish-Ashkenazi - - - - 6 Global Variome, with Curator vacancy
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic (dominant) g.7918019G>A - - - GUCY2D_000058 - PubMed: Lazar 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease MOL0248 PubMed: Lazar 2015 2-generation family, 1 affected M - Israel Jewish-Ashkenazi - - - - 1 Global Variome, with Curator vacancy
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A - 17:7918019G>A ENST00000254854.4:c.2513G>A (Arg838His) - GUCY2D_000058 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001042 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Africa - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15016089 PubMed: Taylor 2017 family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. 13 c.2513G>A r.(?) p.(Arg838His) Parent #1 - pathogenic (dominant) g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat167 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8129 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Haer-Wigman 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel ? 1132 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 6297 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/01 PubMed: Riera 2017 family, several affected - - Spain - - - - - 2 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13011432 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - likely pathogenic (dominant) g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Xiao 2011, PubMed: Huang 2016 - - Germline - - - - - DNA arraySNP, SEQ - - retinal disease QT241 PubMed: Xiao 2011, PubMed: Huang 2016 3-generation family, 8 affected (4F, 4M) F;M - China - - - - - 8 Johan den Dunnen
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - likely pathogenic (dominant) g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Huang 2013, PubMed: Huang 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease Fam2;QT789 PubMed: Huang 2013, PubMed: Huang 2016 2-generation family, 1 affected M - China - - - - - 1 Johan den Dunnen
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - likely pathogenic (dominant) g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease ZD396 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Duncker 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat23 PubMed: Duncker 2015 - F - United States white - - - - 1 Johan den Dunnen
?/. 13 c.2513G>A r.(?) p.(Arg838His) Parent #1 - VUS g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease CRDPat2, dominant PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
?/. 13 c.2513G>A r.(?) p.(Arg838His) Parent #1 - VUS g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease CRDPat3, dominant PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
?/. 13 c.2513G>A r.(?) p.(Arg838His) Parent #1 - VUS g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease CRDPat4, dominant PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
?/. 13 c.2513G>A r.(?) p.(Arg838His) Parent #1 - VUS g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease CRDPat5, dominant PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
?/. 13 c.2513G>A r.(?) p.(Arg838His) Parent #1 - VUS g.7918019G>A g.8014701G>A - - GUCY2D_000058 - PubMed: Alapati 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease CRDPat27, dominant PubMed: Alapati 2014 - - - United States - - - - - 1 LOVD
+?/. 13 c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) ACMG likely pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 346 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 2 LOVD
+?/. 13 c.2513G>A r.(?) p.(Arg838His) Unknown ACMG likely pathogenic g.7918019G>A g.8014701G>A - - GUCY2D_000058 - Tracewska 2021, MolVis in press - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 699 Tracewska 2021, MolVis in press mother F no Poland Slavic - - yes - 1 LOVD
?/. - c.2513G>A r.(?) p.(Arg838His) Unknown ACMG VUS g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe) - GUCY2D_000058 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 144 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.2513G>A r.(?) p.(Arg838His) Unknown ACMG VUS g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe) - GUCY2D_000058 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 413 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown ACMG likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.R838H - GUCY2D_000058 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. p.(Arg838His) c.2513G>A r.(?) p.R838H Unknown ACMG pathogenic g.7918019G>A g.8014701G>A c.2513G>A, p.R838H - GUCY2D_000058 heterozygous PubMed: Nasser 2019 - - Germline - - - - - DNA SEQ-NG blood 105 retinal dystrophy-associated genes retinal disease 4 PubMed: Nasser 2019 - M - Germany - - - - - 1 LOVD
+/. p.(Arg838His) c.2513G>A r.(?) p.R838H Unknown ACMG pathogenic g.7918019G>A g.8014701G>A c.2513G>A, p.R838H - GUCY2D_000058 heterozygous PubMed: Nasser 2019 - - Germline - - - - - DNA SEQ-NG blood 105 retinal dystrophy-associated genes retinal disease 5 PubMed: Nasser 2019 - F - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A c.2513G>A, p.(Arg838His) - GUCY2D_000058 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 12942 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+/. 13 c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A - R838H - GUCY2D_000058 - PubMed: Shanks 2013 - rs61750173 Germline - - - - - DNA SEQ-NG, PCR - - retinal disease - PubMed: Shanks-2013 Affected daughter - - - - - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown ACMG pathogenic g.7918019G>A g.8014701G>A GUCY2D:NM_000180 c.G2513A, p.R838H - GUCY2D_000058 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-282 PubMed: Rodriguez-Munoz 2020 family fRPN-125, proband F - Spain - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D, variant 1: c.2513G>A/p.R838H - GUCY2D_000058 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 196 PubMed: Weisschuh 2020 Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D, variant 1: c.2513G>A/p.R838H - GUCY2D_000058 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 197 PubMed: Weisschuh 2020 Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D, variant 1: c.2513G>A/p.R838H - GUCY2D_000058 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 198 PubMed: Weisschuh 2020 Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D, variant 1: c.2513G>A/p.R838H - GUCY2D_000058 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 199 PubMed: Weisschuh 2020 Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Parent #1 - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D, variant 1: c.2513G>A/p.R838H - GUCY2D_000058 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 200 PubMed: Weisschuh 2020 Filing key number: 73, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001042 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 13 c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A - c.2513G>A - GUCY2D_000058 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. 13 c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 128 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown ACMG likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.G2513A, p.R838H - GUCY2D_000058 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 4 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Maternal (inferred) - pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease 5-III:5 (Patient 6) PubMed: Liu 2020 family 5 (GU01), 5-III:5 (Patient 6) F - Japan Asian - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Maternal (inferred) - pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease 6-III:1 (Patient 7) PubMed: Liu 2020 family 6 (TMC02), 6-III:1 (Patient 7) M - Japan Asian - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease 7-II:5 (Patient 8) PubMed: Liu 2020 family 7 (JU01), 7-II:5 (Patient 8) F - Japan Asian - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease 7-II:3 (Patient 9) PubMed: Liu 2020 family 7 (JU01), 7-II:3 (Patient 9) F - Japan Asian - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease 7-I:2 (Patient 10) PubMed: Liu 2020 family 7 (JU01), 7-I:2 (Patient 10) M - Japan Asian - - - - 1 LOVD
+/. - c.2513G>A r.(?) p.(Arg838His) Unknown - pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Liu 2020 - - De novo ? - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease 8-II:2 (Patient 11) PubMed: Liu 2020 family 8 (JU02), 8-II:2 (Patient 11) M - Japan Asian - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D p.R838H - GUCY2D_000058 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jiang 2015 - - Unknown ? - - - - DNA ? - - retinal disease 010043*_ PubMed: Jiang 2015 family 010043, individual F - China - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D p.R838H - GUCY2D_000058 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jiang 2015 - - Germline yes - - - - DNA ? - - retinal disease 10147_III:1 PubMed: Jiang 2015 family 10147, individual III:1 M - China - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D p.R838H - GUCY2D_000058 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jiang 2015 - - Germline yes - - - - DNA ? - - retinal disease 10176_III:8 PubMed: Jiang 2015 family 10176, individual III:8 M - China - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D p.R838H - GUCY2D_000058 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jiang 2015 - - Germline yes - - - - DNA ? - - retinal disease 77065_II:3 PubMed: Jiang 2015 family 77065, individual II:3 F - China - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D p.R838H - GUCY2D_000058 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jiang 2015 - - Germline yes - - - - DNA ? - - retinal disease 77065_II:4 PubMed: Jiang 2015 family 77065, individual II:4 M - China - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D p.R838H - GUCY2D_000058 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Jiang 2015 - - Germline yes - - - - DNA ? - - retinal disease 77065_II:5 PubMed: Jiang 2015 family 77065, individual II:5 M - China - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D: c.2512C.T/p.R838C - GUCY2D_000058 heteozygous PubMed: Zobor 2014 - - Germline yes - - - - DNA ? - - retinal disease ZD131_III:1 PubMed: Zobor 2014 family ZD131, individual III:1 M - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D: c.2513 G.A/p.R838H - GUCY2D_000058 heteozygous PubMed: Zobor 2014 - - Germline yes - - - - DNA ? - - retinal disease ZD73_I:2 PubMed: Zobor 2014 family ZD73, individual I:2 F - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D: c.2513 G.A/p.R838H - GUCY2D_000058 heteozygous PubMed: Zobor 2014 - - Germline yes - - - - DNA ? - - retinal disease ZD73_II:2 PubMed: Zobor 2014 family ZD73, individual II:2 M - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic (dominant) g.7918019G>A g.8014701G>A GUCY2D c.2513G4A, p.R838H - GUCY2D_000058 heterozygous PubMed: Mukherjee 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease IV:1 PubMed: Mukherjee 2014 Family 1, proband's daughter F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic (dominant) g.7918019G>A g.8014701G>A GUCY2D c.2513G4A, p.R838H - GUCY2D_000058 heterozygous; a de novo mutation from the wild type mother - probably zygotic mutation affecting also monozygotic twin PubMed: Mukherjee 2014 - - De novo yes - - - - DNA SEQ blood - retinal disease III:2 PubMed: Mukherjee 2014 Family 1, proband F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic (dominant) g.7918019G>A g.8014701G>A GUCY2D c.2513G4A, p.R838H - GUCY2D_000058 heterozygous; a de novo mutation from the wild type mother - probably zygotic mutation affecting also monozygotic twin PubMed: Mukherjee 2014 - - De novo yes - - - - DNA SEQ blood - retinal disease III:3 PubMed: Mukherjee 2014 Family 1, proband's twin monozygotic sister F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic (dominant) g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Kohl 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Kohl 2012 - ? - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic (dominant) g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Kohl 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Kohl 2012 - ? - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic (dominant) g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.Arg838His - GUCY2D_000058 heterozygous PubMed: Kohl 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Kohl 2012 - ? - Germany - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.(Arg838His) - GUCY2D_000058 heterozygous PubMed: Kim 2011 - - Germline yes - - - - DNA ? - - retinal disease ? PubMed: Kim 2011 - F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (inferred) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.R838H - GUCY2D_000058 heterozygous PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease II:5 PubMed: Kitiratschky 2008 family ZD73, individual 2132, index patient F - - - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.R838H - GUCY2D_000058 heterozygous PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease III:4 PubMed: Kitiratschky 2008 family ZD73, individual 2135, relative F - - - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (inferred) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.R838H - GUCY2D_000058 heterozygous PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease II:2 PubMed: Kitiratschky 2008 family ZD73, individual 3792, relative M - - - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.R838H - GUCY2D_000058 heterozygous PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease III:2 PubMed: Kitiratschky 2008 family ZD73, individual 3790, relative F - - - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.R838H - GUCY2D_000058 heterozygous PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease I:2 PubMed: Kitiratschky 2008 family ZD174, individual 11824, index patient F - - - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>T, p.R838H - GUCY2D_000058 heterozygous PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease I:1 PubMed: Kitiratschky 2008 family ZD197, individual 13045, index patient F - - - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D c.2513G>A, p.R838H - GUCY2D_000058 heterozygous PubMed: Kitiratschky 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease II:1 PubMed: Kitiratschky 2008 family ZD197, individual 13047, relative F - - - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D G2586A, R838H - GUCY2D_000058 obsolete nucleotide annotation; heterozygous PubMed: Ito 2004 - - Germline yes - - - - DNA SEQ blood - retinal disease II:3 PubMed: Ito 2004 family 183, proband F - Japan Asian - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D G2586A, R838H - GUCY2D_000058 obsolete nucleotide annotation; heterozygous PubMed: Ito 2004 - - Germline yes - - - - DNA SEQ blood - retinal disease III:3 PubMed: Ito 2004 family 183, proband's son M - Japan Asian - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D G2586A, R838H - GUCY2D_000058 obsolete nucleotide annotation; heterozygous PubMed: Ito 2004 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Ito 2004 - ? - Japan Asian - - - - 1 LOVD
+?/. 13 c.2513G>A r.(?) p.(Arg838His) Unknown - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D G2586A, R838H - GUCY2D_000058 obsolete annotation, actual nucleotide extrapolated from databases; heterozygous PubMed: Payne 2001 - - Unknown ? - - - - DNA SEQ - - retinal disease 8 PubMed: Payne 2001 Proband 8 ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, SEQ blood HhaI restriction enzyme retinal disease 1 PubMed: Udar 2003 Family 1175, proband F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 103 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 104 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 105 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 111 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 108 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 114 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 115 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 116 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 125 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 124 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 132 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 123 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 126 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 1000 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 1004 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 1006 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Maternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 1007 PubMed: Udar 2003 Family 1175 M - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 1010 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
+?/. - c.2513G>A r.(?) p.(Arg838His) Paternal (confirmed) - likely pathogenic g.7918019G>A g.8014701G>A GUCY2D 2586G>A (R838H) - GUCY2D_000058 heterozygous PubMed: Udar 2003 - - Germline yes - - - - DNA STR, RFLP blood HhaI restriction enzyme retinal disease 1058 PubMed: Udar 2003 Family 1175 F - United States - - - - - 1 LOVD
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.