Full data view for gene CYP4V2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_207352.3 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
+/? 8i c.1091-2A>G r.spl p.? - Unknown - VUS g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/? 8i c.1091-2A>G r.spl p.? - Unknown - VUS g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 8i c.1091-2A>G r.spl p.(Gly364_Val408del) - Both (homozygous) - pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - M - - Chinese >41y - no none 1 James Hejtmancik
+/. 8i c.1091-2A>G r.spl p.(Gly364_Val408del) - Unknown - pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - F - - Chinese >39y - - - 1 James Hejtmancik
+/. 8i c.1091-2A>G r.spl p.(Gly364_Val408del) - Unknown - pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - F - - Chinese >38y - - - 1 James Hejtmancik
+/. 8i c.1091-2A>G r.spl p.(Gly364_Val408del) - Unknown - pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - - - - - >61y - no none 1 James Hejtmancik
+/. 8i c.1091-2A>G r.spl p.(Gly364_Val408del) - Unknown - pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - M - - Chinese >33y - no none 1 James Hejtmancik
+/. 8i c.1091-2A>G r.spl p.(Gly364_Val408del) - Unknown - pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - M - - Chinese >26y - no none 1 James Hejtmancik
+/. 8i c.1091-2A>G r.spl p.(Gly364_Val408del) - Unknown - pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - M - - Chinese >40y - no none 1 James Hejtmancik
+/. 8i c.1091-2A>G r.spl p.? - Both (homozygous) - pathogenic g.187130017A>G g.186208863A>G IVS8-2A>G - CYP4V2_000003 - PubMed: Li 2004, Journal: Li 2004 - - Germline - - - - - DNA SEQ - - BCD - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - 1 Johan den Dunnen
+/. 8i c.1091-2A>G r.spl p.? - Parent #2 - pathogenic g.187130017A>G g.186208863A>G IVS8-2A>G - CYP4V2_000003 - PubMed: Li 2004, Journal: Li 2004 - - Germline yes - - - - DNA SEQ - - BCD - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - 1 Johan den Dunnen
+/. 8i c.1091-2A>G r.spl p.? - Parent #2 - pathogenic g.187130017A>G g.186208863A>G IVS8-2A>G - CYP4V2_000003 - PubMed: Li 2004, Journal: Li 2004, OMIM:var0005 - rs199476183 Germline - - - - - DNA SEQ - - BCD - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - 1 Johan den Dunnen
?/. - c.1091-2A>G r.(?) p.? - Parent #2 - VUS g.187130017A>G g.186208863A>G - - CYP4V2_000003 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-131 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
?/. - c.1091-2A>G r.(?) p.? - Parent #2 - VUS g.187130017A>G g.186208863A>G - - CYP4V2_000003 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-064 PubMed: Huang 2017 patient - - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP091 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Parent #1 - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W155-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Parent #1 - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W172-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W15-1 PubMed: Huang 2015 - M yes China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W9-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+/. 8i c.1091-2A>G r.spl p.? - Unknown ACMG pathogenic g.187130017A>G g.186208863A>G NM_207352.3:c.1091-2A>G, NP_997235.3:p.?, NC_000004.11:g.187130017A>G - CYP4V2_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101718 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 8i c.1091-2A>G r.spl p.? - Unknown ACMG pathogenic g.187130017A>G g.186208863A>G NM_207352.3:c.1091-2A>G, NP_997235.3:p.?, NC_000004.11:g.187130017A>G - CYP4V2_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016120514 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 8i c.1091-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic g.187130017A>G g.186208863A>G NM_207352.3:c.1091-2A>G, NP_997235.3:p.?, NC_000004.11:g.187130017A>G - CYP4V2_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016121218 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 3 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 3 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 3 LOVD
+/. 8i c.1091-2A>G r.spl? p.? - Unknown - pathogenic g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. 8i c.1091-2A>G r.spl? p.? - Unknown - pathogenic g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.(?) - Unknown - pathogenic g.187130017A>G g.186208863A>G c.1091-2A>G, p.? - CYP4V2_000003 compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13308 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.(?) - Unknown - pathogenic g.187130017A>G g.186208863A>G c.1091-2A>G, p.? - CYP4V2_000003 single heterozygous variant in a recessive gene PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13911 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(?) - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2:splicing:c.1091-2A>G - CYP4V2_000003 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F1-I-2 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(?) - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2:splicing:c.1091-2A>G - CYP4V2_000003 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F2-II-1 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(?) - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2:splicing:c.1091-2A>G - CYP4V2_000003 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F4-I-1 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+/. 8i c.1091-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, - - CYP4V2_000003 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood Whole exome sequencing retinal disease 93 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, MLPA - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Both (homozygous) - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M yes - - - - - - 1 LOVD
+?/. 8i c.1091-2A>G r.spl? p.? - Unknown - likely pathogenic (recessive) g.187130017A>G - c.1091-2A>G - CYP4V2_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091‑2A > G, splici - CYP4V2_000003 homozygous, no ACMG classification PubMed: Shen 2021 - - Germline yes - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F9‑III PubMed: Shen 2021 - M yes China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.(?) - Both (homozygous) ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.[1091-2A>G];[1091-2A>G], V1: c.1091-2A>G, - CYP4V2_000003 homozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F133 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V2: c.1091-2A>G, - CYP4V2_000003 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F223 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V2: c.1091-2A>G, - CYP4V2_000003 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F017 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V2: c.1091-2A>G, - CYP4V2_000003 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F163 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.(?) - Unknown ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.802-8_810delinsGC(;)1091-2A>G, V2: c.1091-2A>G, - CYP4V2_000003 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F239 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.? - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 IVS8-2A>G (3'[acceptor]splice site), Exon9del - CYP4V2_000003 heterozygous PubMed: Shan 2005 - - Germline yes 0/100 alleles - - - DNA SEQ - - BCD 27002-II:2 PubMed: Shan 2005 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.? - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 IVS8-2A>G (3'[acceptor]splice site), Exon9del - CYP4V2_000003 heterozygous PubMed: Shan 2005 - - Germline ? 0/100 alleles - - - DNA SEQ - - BCD 27002-II:3 PubMed: Shan 2005 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G c.1091-2A>G, Splicing acceptor - CYP4V2_000003 homozygous PubMed: Xiao 2011 - - Germline yes 0/192 alleles - - - DNA SEQ - - BCD BCD01 PubMed: Xiao 2011 - M - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G c.1091-2A>G, Splicing acceptor - CYP4V2_000003 heterozygous PubMed: Xiao 2011 - - Germline yes 0/192 alleles - - - DNA SEQ - - BCD BCD07 PubMed: Xiao 2011 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G c.1091-2A>G, Splicing acceptor - CYP4V2_000003 heterozygous PubMed: Xiao 2011 - - Germline yes 0/192 alleles - - - DNA SEQ - - BCD BCD08 PubMed: Xiao 2011 - M - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Maternal (confirmed) - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 heterozygous PubMed: Song 2012 - - Germline yes - - - - DNA SEQ-NG - - retinal disease ? PubMed: Song 2012 - M - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Maternal (inferred) - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 heterozygous PubMed: Wang 2012 - - Germline yes - - - - DNA SEQ-NG - - retinal disease III8 PubMed: Wang 2012 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Maternal (inferred) - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 heterozygous PubMed: Wang 2012 - - Germline yes - - - - DNA SEQ-NG - - retinal disease III2 PubMed: Wang 2012 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Maternal (inferred) - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 heterozygous PubMed: Wang 2012 - - Germline yes - - - - DNA SEQ-NG - - retinal disease III4 PubMed: Wang 2012 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.spl p.? - Maternal (inferred) - likely pathogenic g.187130017A>G g.186208863A>G - - CYP4V2_000003 heterozygous PubMed: Wang 2012 - - Germline yes - - - - DNA SEQ-NG - - retinal disease III6 PubMed: Wang 2012 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.? - Parent #1 - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G - CYP4V2_000003 allele only extrapolated, segregation not described; heterozygous PubMed: Tian 2015 - - Unknown ? - - - - DNA SEQ-NG blood - BCD B_II:2 PubMed: Tian 2015 family B F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.? - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G - CYP4V2_000003 homozygous PubMed: Tian 2015 - - Unknown ? - - - - DNA SEQ-NG blood - BCD D_II:1 PubMed: Tian 2015 family D F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.? - Parent #2 - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G - CYP4V2_000003 allele only extrapolated, segregation not described; heterozygous PubMed: Tian 2015 - - Unknown ? - - - - DNA SEQ-NG blood - BCD A_II:2 PubMed: Tian 2015 family A F - China - - - - - 1 LOVD
+?/. 9 c.1091-2A>G r.spl p.? - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, - CYP4V2_000003 homozygous PubMed: Yin 2016 - - Unknown ? - - - - DNA SEQ blood - BCD BCD020 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 9 c.1091-2A>G r.spl p.? - Unknown - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G - CYP4V2_000003 compound heterozygous PubMed: Yin 2016 - - Unknown ? - - - - DNA SEQ blood - BCD BCD032 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 9 c.1091-2A>G r.spl p.? - Maternal (confirmed) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G - CYP4V2_000003 compound heterozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD037-II:2 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 9 c.1091-2A>G r.spl p.? - Maternal (confirmed) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G - CYP4V2_000003 compound heterozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD049 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 9 c.1091-2A>G r.spl p.? - Maternal (confirmed) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G - CYP4V2_000003 compound heterozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD037-II:1 PubMed: Yin 2016 - F - China - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(Gly364_Val408del) - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, p.(Gly364_Val408del)b - CYP4V2_000003 homozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 50 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(Gly364_Val408del) - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, p.(Gly364_Val408del) - CYP4V2_000003 Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 4 PubMed: Jiao 2017 - F - - Chinese - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(Gly364_Val408del) - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, p.(Gly364_Val408del) - CYP4V2_000003 Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 5 PubMed: Jiao 2017 - F - - Chinese - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(Gly364_Val408del) - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, p.(Gly364_Val408del) - CYP4V2_000003 Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 39 PubMed: Jiao 2017 - - - - - - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(Gly364_Val408del) - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, p.(Gly364_Val408del) - CYP4V2_000003 Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 42 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(Gly364_Val408del) - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, p.(Gly364_Val408del) - CYP4V2_000003 Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 48 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.1091-2A>G r.(?) p.(Gly364_Val408del) - Both (homozygous) - likely pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, p.(Gly364_Val408del) - CYP4V2_000003 Skips exon 9 (predicted); subject to nonsense-mediated decay; compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 49 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19596 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Both (homozygous) ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19649 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #1 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28123 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #1 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28126 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #1 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28113 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #1 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28085 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 19853 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28091 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28097 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28110 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28120 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28129 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28137 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+/. - c.1091-2A>G r.spl p.? - Parent #2 ACMG pathogenic g.187130017A>G g.186208863A>G CYP4V2 c.1091-2A>G, Exon9del - CYP4V2_000003 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28143 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
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