Full data view for gene PDE6C

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006204.3 transcript reference sequence.

265 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_-1)_(480+1_481-1)del r.? p.? Unknown ACMG VUS g.(?_95372482)_(95372963_95380388)del g.(?_93612725)_(93613206_93620631)del 1-?_480+?del - PDE6C_000083 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACHM IR_GH_0074 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.78del r.(?) p.(Lys27Serfs*27) Unknown ACMG likely pathogenic g.95372560del g.93612803del PDE6C c.78del/p.K27Sfs*27 - PDE6C_000106 heterozygous PubMed: Weisschuh 2018 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 8 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
+/. 1 c.85C>T r.(?) p.(Arg29Trp) Unknown - pathogenic g.95372567C>T - c.85C>T - PDE6C_000078 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+/. 1 c.85C>T r.(?) p.(Arg29Trp) Unknown - pathogenic g.95372567C>T - c.85C>T - PDE6C_000078 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+?/. - c.85C>T r.(?) p.(Arg29Trp) Unknown ACMG VUS g.95372567C>T - - - PDE6C_000078 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACHM IR_SH_0035 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.85C>T r.(?) p.(Arg29Trp) Unknown ACMG VUS g.95372567C>T - - - PDE6C_000078 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACHM IR_GH_0025 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.85C>T r.(?) p.(Arg29Trp) Parent #1 - likely pathogenic g.95372567C>T g.93612810C>T PDE6C c.[85C>T];[85C>T] - PDE6C_000078 homozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 9007 PubMed: Sun 2020 early childhood onset defined as younger than 8y M - China - - - - - 1 LOVD
+?/. - c.85C>T r.(?) p.(Arg29Trp) Parent #2 - likely pathogenic g.95372567C>T g.93612810C>T PDE6C c.[85C>T];[85C>T] - PDE6C_000078 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 9007 PubMed: Sun 2020 early childhood onset defined as younger than 8y M - China - - - - - 1 LOVD
+?/. - c.85C>T r.(?) p.(Arg29Trp) Both (homozygous) - likely pathogenic g.95372567C>T g.93612810C>T PDE6C c.85C>T, p.R29W - PDE6C_000078 homozyzgous PubMed: Thiadens 2009 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease AII-1 PubMed: Thiadens 2009 - - - - - - - - - 1 LOVD
+?/. - c.85C>T r.(?) p.(Arg29Trp) Both (homozygous) - likely pathogenic g.95372567C>T g.93612810C>T PDE6C c.85C>T, p.R29W - PDE6C_000078 homozyzgous PubMed: Thiadens 2009 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease AII-2 PubMed: Thiadens 2009 - - - - - - - - - 1 LOVD
+/. - c.85C>T r.(?) p.(Arg29Trp) Parent #1 ACMG pathogenic (recessive) g.95372567C>T g.93612810C>T - - PDE6C_000078 ACMG PS4, PS3, PM2_sup, PM3; only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; heterozygous PubMed: Grau 2011, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO319/II1;Pat81 PubMed: Grau 2011, PubMed: Andersen 2023 - - - Denmark - - - - - 1 LOVD
+?/. - c.85C>T r.(?) p.(Arg29Trp) Parent #2 ACMG pathogenic g.95372567C>T g.93612810C>T PDE6C c.85C>T/p.R29W - PDE6C_000078 heterozygous PubMed: Weisschuh 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 15 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
+/. - c.85C>T r.(?) p.(Arg29Trp) Maternal (confirmed) - pathogenic g.95372567C>T g.93612810C>T - - PDE6C_000078 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat72 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+?/. - c.85C>T r.(?) p.(Arg29Trp) Unknown ACMG likely pathogenic g.95372567C>T g.93612810C>T - - PDE6C_000078 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 071005 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.89_99del r.(?) p.(Val30GlyfsTer19) Parent #1 - likely pathogenic (recessive) g.95372571_95372581del g.93612814_93612824del 88_98del - PDE6C_000073 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease CHRO865 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
-/. - c.203C>T r.(?) p.(Thr68Ile) Unknown - benign g.95372685C>T g.93612928C>T PDE6C(NM_006204.4):c.203C>T (p.T68I) - PDE6C_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.211G>T r.(?) p.(Glu71*) Unknown ACMG likely pathogenic g.95372693G>T g.93612936G>T PDE6C c.211G>T/p.E71* - PDE6C_000107 heterozygous PubMed: Weisschuh 2018 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 10 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
-?/. - c.219G>T r.(?) p.(Gly73=) Unknown - likely benign g.95372701G>T - PDE6C(NM_006204.4):c.219G>T (p.G73=) - PDE6C_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.221del r.(?) p.(Gly74Alafs*69) Unknown ACMG pathogenic g.95372703del g.93612946del - - PDE6C_000147 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1995570 - Germline yes - - - - DNA SEQ-NG-I - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3579484 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F likely Mexico Hispanic - - - - 1 Rocio Villafuerte-de la Cruz
-/. - c.252G>A r.(?) p.(Leu84=) Unknown - benign g.95372734G>A g.93612977G>A PDE6C(NM_006204.4):c.252G>A (p.L84=) - PDE6C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.252G>A r.(?) p.(Leu84=) Unknown - benign g.95372734G>A g.93612977G>A PDE6C(NM_006204.4):c.252G>A (p.L84=) - PDE6C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.252G>T r.(?) p.(Leu84=) Unknown - benign g.95372734G>T g.93612977G>T PDE6C(NM_006204.3):c.252G>T (p.L84=), PDE6C(NM_006204.4):c.252G>T (p.L84=) - PDE6C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252G>T r.(?) p.(Leu84=) Unknown - likely benign g.95372734G>T g.93612977G>T PDE6C(NM_006204.3):c.252G>T (p.L84=), PDE6C(NM_006204.4):c.252G>T (p.L84=) - PDE6C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.256_257dup r.(?) p.(Leu87GlyfsTer57) Unknown - likely pathogenic g.95372738_95372739dup g.93612981_93612982dup PDE6C c.257_258 dupAG, p.L87GfsX57 - PDE6C_000108 error in annotation, this mutation is actually c.256_257dup; heterozygous PubMed: Thiadens 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease CII-1 PubMed: Thiadens 2009 - - - - - - - - - 1 LOVD
-/. - c.282C>T r.(?) p.(Asp94=) Unknown - benign g.95372764C>T g.93613007C>T - - PDE6C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.297C>G r.(?) p.(Phe99Leu) Parent #1 ACMG VUS g.95372779C>G g.93613022C>G - - PDE6C_000153 ACMG PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam218Pat84 PubMed: Andersen 2023 family, 2 affected - yes Denmark - - - - - 2 Susanne Kohl
?/. - c.297C>G r.(?) p.(Phe99Leu) Parent #1 ACMG VUS g.95372779C>G g.93613022C>G - - PDE6C_000153 ACMG PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam218Pat85 PubMed: Andersen 2023 sib - yes Denmark - - - - - 1 Susanne Kohl
+/. 1 c.304C>T r.(?) p.(Arg102Trp) Both (homozygous) - pathogenic g.95372786C>T - c.304C>T - PDE6C_000084 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+?/. - c.304C>T r.(?) p.(Arg102Trp) Both (homozygous) ACMG VUS g.95372786C>T g.93613029C>T PDE6C c.304C>T/p.R102W - PDE6C_000084 homozygous PubMed: Weisschuh 2018 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 9 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
+?/. - c.305G>A r.(?) p.(Arg102Gln) Maternal (confirmed) ACMG likely pathogenic g.95372787G>A g.93613030G>A PDE6C c.305 G > A - PDE6C_000138 heterozygous, confirmed on mRNA level PubMed: Yuan 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - panel next-generation sequencing retinal disease II:1 PubMed: Yuan 2020 proband F yes China Chinese - - - - 1 LOVD
+?/. - c.305G>A r.(?) p.(Arg102Gln) Maternal (confirmed) ACMG likely pathogenic g.95372787G>A g.93613030G>A PDE6C c.305 G > A - PDE6C_000138 heterozygous, confirmed on mRNA level PubMed: Yuan 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - panel next-generation sequencing retinal disease II:2 PubMed: Yuan 2020 proband's monozygotic twin sister F yes China Chinese - - - - 1 LOVD
+?/. - c.305G>A r.(?) p.(Arg102Gln) Maternal (confirmed) ACMG likely pathogenic g.95372787G>A g.93613030G>A PDE6C c.305 G > A - PDE6C_000138 heterozygous, confirmed on mRNA level PubMed: Yuan 2020 - - Germline yes - - - - DNA SEQ - - retinal disease II:4 PubMed: Yuan 2020 proband's younger brother M yes China Chinese - - - - 1 LOVD
+?/. - c.310C>T r.(?) p.(Arg104Trp) Both (homozygous) - likely pathogenic g.95372792C>T g.93613035C>T PDE6C c.310C>T, p.R104W - PDE6C_000109 only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous PubMed: Grau 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO 573/II:1 PubMed: Grau 2011 - - - - - - - - - 1 LOVD
+?/. - c.310C>T r.(?) p.(Arg104Trp) Both (homozygous) - likely pathogenic g.95372792C>T g.93613035C>T PDE6C c.310C>T, p.R104W - PDE6C_000109 only minute catalytic activity that ranged between 4.5% and 8.6% of the normalized chimeric wildtype protein activity; homozygous PubMed: Grau 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO 573/II:2 PubMed: Grau 2011 - - - - - - - - - 1 LOVD
?/. - c.311G>A r.(?) p.(Arg104Gln) Unknown - VUS g.95372793G>A - PDE6C(NM_006204.4):c.311G>A (p.R104Q) - PDE6C_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311G>A r.(?) p.(Arg104Gln) Unknown ACMG VUS g.95372793G>A g.93613036G>A PDE6C c.311G>A, p.Arg104Gln - PDE6C_000062 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P1 PubMed: Georgiou 2019 pedigree GC23489, individual P1 F - - Nepali - - - - 1 LOVD
+?/. - c.311G>A r.(?) p.(Arg104Gln) Unknown - likely pathogenic g.95372793G>A - PDE6C(NM_006204.4):c.311G>A (p.R104Q) - PDE6C_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Gly106Ser) Unknown - VUS g.95372798G>A g.93613041G>A PDE6C(NM_006204.3):c.316G>A (p.G106S) - PDE6C_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.326A>T r.(?) p.(Glu109Val) Unknown ACMG VUS g.95372808A>T g.93613051A>T PDE6C c.326A>T, p.Glu109Val - PDE6C_000110 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P4 PubMed: Georgiou 2019 pedigree GC23440, individual P4 F - - British - - - - 1 LOVD
?/. - c.356C>T r.(?) p.(Pro119Leu) Unknown - VUS g.95372838C>T - PDE6C(NM_006204.3):c.356C>T (p.P119L) - PDE6C_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.398_400del r.(?) p.(Glu133del) Unknown - VUS g.95372880_95372882del g.93613123_93613125del PDE6C(NM_006204.4):c.398_400delAAG (p.E133del) - PDE6C_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400G>A r.(?) p.(Val134Ile) Unknown - VUS g.95372882G>A g.93613125G>A PDE6C(NM_006204.3):c.400G>A (p.(Val134Ile)) - PDE6C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.413T>C r.(?) p.(Leu138Ser) Unknown - likely benign g.95372895T>C g.93613138T>C PDE6C(NM_006204.3):c.413T>C (p.L138S), PDE6C(NM_006204.4):c.413T>C (p.L138S) - PDE6C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.413T>C r.(?) p.(Leu138Ser) Unknown - VUS g.95372895T>C - PDE6C(NM_006204.3):c.413T>C (p.L138S), PDE6C(NM_006204.4):c.413T>C (p.L138S) - PDE6C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.413T>C r.(?) p.(Leu138Ser) Unknown ACMG VUS g.95372895T>C g.93613138T>C PDE6C:NM_006204 c.T413C, p.L138S - PDE6C_000005 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-230 PubMed: Rodriguez-Munoz 2020 family fRPN-97, proband F - Spain - - - - - 1 LOVD
?/. - c.413T>C r.(?) p.(Leu138Ser) Unknown ACMG VUS g.95372895T>C g.93613138T>C PDE6C:NM_006204 c.T413C, p.L138S - PDE6C_000005 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-325 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.421G>C r.(?) p.(Gly141Arg) Parent #1 - likely pathogenic g.95372903G>C g.93613146G>C PDE6C c.[421G>C];[939+2T>C] - PDE6C_000094 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 8430 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
-/. - c.447G>A r.(?) p.(Thr149=) Unknown - benign g.95372929G>A g.93613172G>A PDE6C(NM_006204.4):c.447G>A (p.T149=) - PDE6C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.480G>T r.(?) p.(Lys160Asn) Unknown ACMG VUS g.95372962G>T - - - PDE6C_000080 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACHM IR_GH_0074 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.481-12T>A r.spl p.(Asn161fs*169) Maternal (confirmed) - likely pathogenic g.95380377T>A g.93620620T>A PDE6C c.481-12T>A; p.Asn161fsX169 (activates a cryptic splice site 10 nucleotides upstream of the genuine 3 splice acceptor site) - PDE6C_000111 heterozygous PubMed: Chang 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO 9_II:3 PubMed: Chang 2009 - - - - - - - - - 1 LOVD
+?/. - c.481-12T>A r.spl p.(Asn161fs*169) Maternal (confirmed) - likely pathogenic g.95380377T>A g.93620620T>A PDE6C c.481-12T>A - PDE6C_000111 heterozygous PubMed: Chang 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO 9_II:4 PubMed: Chang 2009 - - - - - - - - - 1 LOVD
+?/. - c.490T>C r.(?) p.(Phe164Leu) Unknown ACMG likely pathogenic g.95380398T>C - - - PDE6C_000050 - 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.490T>C r.(?) p.(Phe164Leu) Both (homozygous) - likely pathogenic g.95380398T>C g.93620641T>C PDE6C c.490T>C p.(Phe164Leu) - PDE6C_000050 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 49 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+?/. - c.497del r.(?) p.(Asp166Alafs*28) Unknown ACMG likely pathogenic g.95380405del g.93620648del PDE6C c.497del/p.D166Afs*28 - PDE6C_000112 heterozygous PubMed: Weisschuh 2018 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 11 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
+?/. 2 c.542del r.(?) p.(Ala181Glufs*13) Both (homozygous) - likely pathogenic (recessive) g.95380450del g.93620693del - - PDE6C_000051 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC07299 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+/. - c.595A>G r.(?) p.(Lys199Glu) Unknown - pathogenic (recessive) g.95380503A>G - 10:95380503A>G ENST00000371447.3:c.595A>G (Lys199Glu) - PDE6C_000058 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005239 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.595A>G r.(?) p.(Lys199Glu) Unknown - likely pathogenic g.95380503A>G g.93620746A>G PDE6C c.595A>G, p.Lys199Glu - PDE6C_000058 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005239 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.595A>G r.(?) p.(Lys199Glu) Unknown ACMG VUS g.95380503A>G g.93620746A>G PDE6C c.595A>G, p.Lys199Glu - PDE6C_000058 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P8 PubMed: Georgiou 2019 pedigree GC19847, individual P8 F - - British - - - - 1 LOVD
+/. - c.631G>T r.(?) p.(Glu211*) Both (homozygous) - pathogenic (recessive) g.95380539G>T - 10:95380539G>T ENST00000371447.3:c.631G>T (Glu211Ter) - PDE6C_000059 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008996 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.631G>T r.(?) p.(Glu211*) Both (homozygous) - likely pathogenic g.95380539G>T g.93620782G>T PDE6C c.631G>T, p.Glu211Ter - PDE6C_000059 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008996 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.631G>T r.(?) p.(Glu211Ter) Both (homozygous) ACMG pathogenic g.95380539G>T g.93620782G>T PDE6C c.631G>T, p.Glu211Ter - PDE6C_000059 homozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P3 PubMed: Georgiou 2019 pedigree GC18349, individual P3 F - - Pakistani - - - - 1 LOVD
+?/. - c.633G>C r.(?) p.(Glu211Asp) Parent #1 - likely pathogenic g.95380541G>C g.93620784G>C PDE6C c.633G>C, p.E211D - PDE6C_000113 heterozygous PubMed: Thiadens 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease DII-1 PubMed: Thiadens 2009 - - - - - - - - - 1 LOVD
+?/. - c.633G>C r.(?) p.(Glu211Asp) Parent #1 - likely pathogenic g.95380541G>C g.93620784G>C PDE6C c.633G>C, p.E211D - PDE6C_000113 heterozygous PubMed: Thiadens 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease DII-2 PubMed: Thiadens 2009 - - - - - - - - - 1 LOVD
-?/. - c.634-9C>T r.(=) p.(=) Unknown - likely benign g.95380639C>T g.93620882C>T PDE6C(NM_006204.3):c.634-9C>T - PDE6C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.648C>G r.(?) p.(Tyr216*) Unknown - likely pathogenic g.95380662C>G g.93620905C>G PDE6C c.648C>G(;)1114T>C - PDE6C_000095 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 16648 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+/. - c.712C>T r.(?) p.(Arg238Ter) Paternal (confirmed) - pathogenic g.95380726C>T g.93620969C>T - - PDE6C_000148 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat72 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
-/. - c.724-15G>T r.(=) p.(=) Unknown - benign g.95381674G>T g.93621917G>T PDE6C(NM_006204.4):c.724-15G>T - PDE6C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.752T>C r.(?) p.(Phe251Ser) Both (homozygous) - VUS g.95381717T>C g.93621960T>C - - PDE6C_000033 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.752T>C r.(?) p.(Phe251Ser) Both (homozygous) ACMG VUS g.95381717T>C g.93621960T>C - - PDE6C_000033 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1192 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
+/. - c.775C>T r.(?) p.(Arg259Ter) Unknown - pathogenic g.95381740C>T g.93621983C>T - - PDE6C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.775C>T r.(?) p.(Arg259*) Unknown ACMG likely pathogenic g.95381740C>T g.93621983C>T PDE6C c.775C>T/p.R259* - PDE6C_000026 heterozygous PubMed: Weisschuh 2018 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 8 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
-?/. - c.801G>A r.(?) p.(Thr267=) Unknown - likely benign g.95381766G>A g.93622009G>A PDE6C(NM_006204.3):c.801G>A (p.T267=), PDE6C(NM_006204.4):c.801G>A (p.T267=) - PDE6C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.801G>A r.(?) p.(Thr267=) Unknown - VUS g.95381766G>A - PDE6C(NM_006204.3):c.801G>A (p.T267=), PDE6C(NM_006204.4):c.801G>A (p.T267=) - PDE6C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.808T>A r.(?) p.(Ser270Thr) Unknown - benign g.95381773T>A g.93622016T>A PDE6C(NM_006204.4):c.808T>A (p.S270T) - PDE6C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.808T>A r.(?) p.(Ser270Thr) Unknown - benign g.95381773T>A g.93622016T>A PDE6C(NM_006204.4):c.808T>A (p.S270T) - PDE6C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.826C>T r.(?) p.(Arg276*) Paternal (confirmed) - likely pathogenic g.95381791C>T g.93622034C>T PDE6C c.826C>T, p.Arg276X - PDE6C_000114 heterozygous PubMed: Chang 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO 287 PubMed: Chang 2009 - - - - - - - - - 1 LOVD
+?/. - c.827G>A r.(?) p.(Arg276Gln) Unknown ACMG VUS g.95381792G>A - - - PDE6C_000079 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACHM IR_GH_0025 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.827G>A r.(?) p.(Arg276Gln) Parent #1 ACMG VUS g.95381792G>A g.93622035G>A - - PDE6C_000079 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070642 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.836T>C r.(?) p.(Ile279Thr) Parent #1 ACMG likely pathogenic g.95381801T>C g.93622044T>C PDE6C c.836T>C/p.I279T - PDE6C_000115 heterozygous PubMed: Weisschuh 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 15 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
+/. - c.857del r.(?) p.(Lys286Argfs*16) Both (homozygous) - pathogenic (recessive) g.95381822del g.93622065del - - PDE6C_000063 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat16 PubMed: Matet 2018 - M yes - Africa-North - - - - 1 LOVD
+?/. - c.857del r.(?) p.(Lys286Argfs*16) Unknown - likely pathogenic g.95381822del g.93622065del PDE6C c.857del, (p.Lys286fs*16) - PDE6C_000063 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 16 PubMed: Matet 2018 - M yes France Northern African - - - - 1 LOVD
+?/. - c.857del r.(?) p.(Lys286Argfs*16) Unknown - likely pathogenic g.95381822del g.93622065del PDE6C c.857del, (p.Lys286fs*16) - PDE6C_000063 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 16 PubMed: Matet 2018 - M yes France Northern African - - - - 1 LOVD
+?/. - c.857del r.(?) p.(Lys286Argfs*16) Both (homozygous) ACMG likely pathogenic g.95381822del g.93622065del PDE6C c.857del/p.K286Rfs*16 - PDE6C_000063 homozygous PubMed: Weisschuh 2018 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 13 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
+/. - c.864+1G>A r.spl? p.? Both (homozygous) - pathogenic (recessive) g.95381830G>A - 10:95381830G>A ENST00000371447.3:c.864+1G>A - PDE6C_000060 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G000974 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.864+1G>A r.spl p.(?) Both (homozygous) - likely pathogenic g.95381830G>A g.93622073G>A PDE6C c.864+1G>A, - PDE6C_000060 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000974 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 4i c.864+1G>A r.spl? p.? Unknown - likely pathogenic g.95381830G>A - c.864+1G>A - PDE6C_000060 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 4i c.864+1G>A r.spl? p.? Unknown - likely pathogenic g.95381830G>A - c.864+1G>A - PDE6C_000060 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+/. - c.864+1G>A r.(?) p.? Unknown ACMG pathogenic g.95381830G>A g.93622073G>A PDE6C c.864+1G>A, Splicing Defect - PDE6C_000060 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P1 PubMed: Georgiou 2019 pedigree GC23489, individual P1 F - - Nepali - - - - 1 LOVD
+/. - c.864+1G>A r.(?) p.? Both (homozygous) ACMG pathogenic g.95381830G>A g.93622073G>A PDE6C c.864+1G>A, Splicing Defect - PDE6C_000060 homozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P2 PubMed: Georgiou 2019 pedigree GC17774, individual P2 F - - Pakistani - - - - 1 LOVD
-?/. - c.864+13C>T r.(=) p.(=) Unknown - likely benign g.95381842C>T g.93622085C>T PDE6C(NM_006204.4):c.864+13C>T - PDE6C_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.893T>A r.(?) p.(Leu298His) Unknown ACMG VUS g.95385360T>A g.93625603T>A PDE6C c.893T>A, p.Leu298His - PDE6C_000116 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA SEQ-NG, SEQ - 176 genes associated with retinal dystrophy, panel next-generation sequencing retinal disease P4 PubMed: Georgiou 2019 pedigree GC23440, individual P4 F - - British - - - - 1 LOVD
+?/. - c.939+2T>C r.spl p.(?) Parent #2 - likely pathogenic g.95385408T>C g.93625651T>C PDE6C c.[421G>C];[939+2T>C] - PDE6C_000096 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 8430 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+/. - c.939+2T>G r.spl p.? Maternal (confirmed) ACMG pathogenic g.95385408T>G g.93625651T>G PDE6C c.939+2T>G, p.? - PDE6C_000139 heterozygous PubMed: Varela 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - next-generation sequencing achromatopsia 6 genes panel retinal disease Patient A PubMed: Varela 2020 proband F no - Latino - - - - 1 LOVD
?/. - c.939+5G>A r.spl? p.? Unknown - VUS g.95385411G>A g.93625654G>A - - PDE6C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.939+5G>A r.spl p.? Unknown - likely pathogenic g.95385411G>A g.93625654G>A - - PDE6C_000027 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG1574 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.939+5G>A r.spl? p.(?) Parent #1 - likely pathogenic g.95385411G>A g.93625654G>A PDE6C, variant 1: c.939+5G>A/p.?, variant 2: c.939+5G>A/p.? - PDE6C_000027 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1201 PubMed: Weisschuh 2020 Filing key number: 905, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.939+5G>A r.spl? p.(?) Parent #1 - likely pathogenic g.95385411G>A g.93625654G>A PDE6C, variant 1: c.939+5G>A/p.?, variant 2: c.939+5G>A/p.? - PDE6C_000027 solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1202 PubMed: Weisschuh 2020 Filing key number: 905, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.939+5G>A r.spl p.? Both (homozygous) ACMG VUS g.95385411G>A g.93625654G>A PDE6C c.939+5G>A - PDE6C_000027 homozygous PubMed: Weisschuh 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 1-1 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
+?/. - c.939+5G>A r.spl p.? Both (homozygous) ACMG VUS g.95385411G>A g.93625654G>A PDE6C c.939+5G>A - PDE6C_000027 homozygous PubMed: Weisschuh 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing retinal disease 1-2 PubMed: Weisschuh 2018 - - - - - - - - - 1 LOVD
+?/. - c.939+5G>T r.spl p.? Parent #2 ACMG likely pathogenic (recessive) g.95385411G>T g.93625654G>T - - PDE6C_000154 ACMG PVS1_strong, PM5, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam218Pat84 PubMed: Andersen 2023 family, 2 affected - yes Denmark - - - - - 2 Susanne Kohl
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