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.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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VIP     

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Owner     
+/. 9 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - M - - Chinese >48y - no none 1 James Hejtmancik
+/. 9 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - - - - - - - no none 1 James Hejtmancik
+/. 9 c.992A>C r.(?) p.(His331Pro) - Unknown - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - - - - - - - no none 1 James Hejtmancik
+/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - M - - Chinese >26y - no none 1 James Hejtmancik
+/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - M - - Chinese >40y - no none 1 James Hejtmancik
+/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - - - - Korean - - no none 1 James Hejtmancik
+/. 9 c.992A>C r.(?) p.(His331Pro) - Unknown - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - - - - Korean - - no none 1 James Hejtmancik
+/. 9 c.992A>C r.(?) p.(His331Pro) - Unknown - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - F - - Chinese >39y - no none 1 James Hejtmancik
+/. 9 c.992A>C r.(?) p.(His331Pro) - Unknown - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - F - - Chinese >51y - no none 1 James Hejtmancik
+/. 9 c.992A>C r.(?) p.(His331Pro) - Unknown - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - - - - Germline - - - - - DNA SEQ wbc - BCD - - - F - - Chinese >43y - no none 1 James Hejtmancik
+/. 8 c.992A>C r.(?) p.(His331Pro) - Parent #1 - pathogenic g.187126358A>C g.186205204A>C 1296A>C - CYP4V2_000018 - PubMed: Li 2004, Journal: Li 2004, OMIM:var0007 - rs199476197 Germline yes - - - - DNA SEQ - - BCD - PubMed: Li 2004, Journal: Li 2004 3-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents F - - Chinese - - - - 3 Johan den Dunnen
+/. 8 c.992A>C r.(?) p.(His331Pro) - Parent #1 - pathogenic g.187126358A>C g.186205204A>C 1296A>C - CYP4V2_000018 - PubMed: Li 2004, Journal: Li 2004, OMIM:var0007 - rs199476197 Germline yes 1/50 controls - - - DNA SEQ - - Healthy/Control - PubMed: Li 2004, Journal: Li 2004 - - - - Chinese - - - - 1 Johan den Dunnen
+/. - c.992A>C r.(?) p.(His331Pro) - Parent #1 - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP042 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.992A>C r.(?) p.(His331Pro) - Parent #1 - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP067 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.992A>C r.(?) p.(His331Pro) - Parent #1 - pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP091 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - pathogenic (recessive) g.187126358A>C g.186205204A>C - - CYP4V2_000018 - PubMed: Liu 2015 - - Germline - - - - - DNA SEQ-NG - 316-gene panel retinal disease RH18-PatII2 PubMed: Liu 2015 family, 3 affected F - China - - - - - 3 LOVD
+/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - pathogenic (recessive) g.187126358A>C g.186205204A>C - - CYP4V2_000018 - PubMed: Liu 2015 - - Germline - - - - - DNA SEQ-NG - 316-gene panel retinal disease RH18-PatII4 PubMed: Liu 2015 - F - China - - - - - 1 LOVD
+/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - pathogenic (recessive) g.187126358A>C g.186205204A>C - - CYP4V2_000018 - PubMed: Liu 2015 - - Germline - - - - - DNA SEQ-NG - 316-gene panel retinal disease RH18-PatII6 PubMed: Liu 2015 - M - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #1 - likely pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W9-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C - - CYP4V2_000018 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W20-1 PubMed: Huang 2015 - M - China - - - - - 1 LOVD
?/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - VUS g.187126358A>C g.186205204A>C A992C - CYP4V2_000018 - PubMed: Katagiri 2014 - rs199476197 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Unknown ACMG VUS g.187126358A>C - - - CYP4V2_000018 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - BCD IR_GS_0144 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Parent #1 - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2:NM_207352:exon8:c.992A>C:p.H331P - CYP4V2_000018 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F1-I-2 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Parent #1 - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2:NM_207352:exon8:c.992A>C:p.H331P - CYP4V2_000018 compound heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F4-I-1 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+/. 8 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) ACMG pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 homozygous PubMed: Dan 2020 - - Germline yes - - - - DNA SEQ-NG blood Panel 2 containing 316 genes retinal disease 55 PubMed: Dan 2020 - F ? China - - - - - 1 LOVD
+/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown ACMG pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 heterozygous PubMed: Dan 2020 - - Germline ? - - - - DNA SEQ-NG blood Whole exome sequencing retinal disease 132 PubMed: Dan 2020 - M no China - - - - - 1 LOVD
?/. - c.992A>C r.(?) p.(His331Pro) - Unknown ACMG VUS g.187126358A>C g.186205204A>C CYP4V2 c.A992C, p.H331P - CYP4V2_000018 marked as causative, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 139 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Unknown ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 heterozygous PubMed: Kim 2021 - - Unknown ? - - - - DNA SEQ-NG - - retinal disease 7-7 PubMed: Kim 2021 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Unknown ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.802-8_810delinsG(;)992A>C, V2: c.992A>C, (p.His331Pro) - CYP4V2_000018 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F194 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 6 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 992A>C, H331P - CYP4V2_000018 heterozygous PubMed: Lin 2005 - - Germline ? - - - - DNA SEQ - - BCD 288-001 PubMed: Lin 2005 - F - - Chinese - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 1296A>C, H331P - CYP4V2_000018 heterozygous PubMed: Shan 2005 - - Germline ? 0/100 alleles - - - DNA SEQ - - BCD 28049 PubMed: Shan 2005 - ? - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - likely pathogenic g.187126358A>C g.186205204A>C c.992A>C, p.His331Pro - CYP4V2_000018 heterozygous PubMed: Xiao 2011 - - Germline ? 0/192 alleles - - - DNA SEQ - - BCD BCD06 PubMed: Xiao 2011 - M - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - likely pathogenic g.187126358A>C g.186205204A>C c.992A>C, p.His331Pro - CYP4V2_000018 heterozygous PubMed: Xiao 2011 - - Germline yes 0/192 alleles - - - DNA SEQ - - BCD BCD10 PubMed: Xiao 2011 - F - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - likely pathogenic g.187126358A>C g.186205204A>C c.992A>C, p.His331Pro - CYP4V2_000018 heterozygous PubMed: Xiao 2011 - - Germline ? 0/192 alleles - - - DNA SEQ - - BCD BCD14 PubMed: Xiao 2011 - F - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - likely pathogenic g.187126358A>C g.186205204A>C c.992A>C, p.His331Pro - CYP4V2_000018 heterozygous PubMed: Xiao 2011 - - Germline yes 0/192 alleles - - - DNA SEQ - - BCD BCD19 PubMed: Xiao 2011 - F - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 - likely pathogenic g.187126358A>C g.186205204A>C c.992A>C - CYP4V2_000018 heterozygous PubMed: Xiao 2011 - - Germline ? 0/192 alleles - - - DNA SEQ - - BCD BCD21 PubMed: Xiao 2011 - F - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 homozygous PubMed: Yin 2016 - - Unknown ? - - - - DNA SEQ blood - BCD BCD012 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.215-2A>G - CYP4V2_000018 compound heterozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD015-III:5 PubMed: Yin 2016 - F - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD023-II:1 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 homozygous PubMed: Yin 2016 - - Unknown ? - - - - DNA SEQ blood - BCD BCD026 PubMed: Yin 2016 - F - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 homozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD027-V:1 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Yin 2016 - - Unknown ? - - - - DNA SEQ blood - BCD BCD034 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Yin 2016 - - Unknown ? - - - - DNA SEQ blood - BCD BCD038 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Maternal (confirmed) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD048 PubMed: Yin 2016 - F - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.215-2A>G - CYP4V2_000018 compound heterozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD015-III:1 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Unknown - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD023-II:2 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 homozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD027-V:3 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. 8 c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 homozygous PubMed: Yin 2016 - - Germline yes - - - - DNA SEQ blood - BCD BCD027-V:5 PubMed: Yin 2016 - M - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 homozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 45 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 homozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 46 PubMed: Jiao 2017 - - - - - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 47 PubMed: Jiao 2017 - - - - - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 48 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 49 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 37 PubMed: Jiao 2017 - - - - Korean - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 38 PubMed: Jiao 2017 - - - - Korean - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 40 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 41 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.(His331Pro) - CYP4V2_000018 compound heterozygous PubMed: Jiao 2017 - - Unknown ? - - - - DNA SEQ blood - BCD 43 PubMed: Jiao 2017 - - - - Chinese - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Paternal (confirmed) - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, (p.H331P) - CYP4V2_000018 compound heterozygous PubMed: Meng 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing BCD VI:1 PubMed: Meng 2017 - M - - Chinese - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Unknown - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C - CYP4V2_000018 compound heterozygous PubMed: Oishi 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next generation sequencing CDG1A K6077 PubMed: Oishi 2018 - F - Japan - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 homozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28131 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Both (homozygous) ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 homozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28156 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #1 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28125 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #1 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28163 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #1 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28147 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 19528 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28049 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28083 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28087 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28099 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28100 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28102 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28106 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28118 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28127 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28139 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28149 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28151 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Germline yes - - - - DNA SEQ blood retrospective study BCD 28162 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Parent #2 ACMG likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.992A>C, p.H331P - CYP4V2_000018 compound heterozygous PubMed: Zhang 2018 - - Unknown ? - - - - DNA SEQ blood retrospective study BCD 28085 PubMed: Zhang 2018 - - - China - - - - - 1 LOVD
+?/. - c.992A>C r.(?) p.(His331Pro) - Unknown - likely pathogenic g.187126358A>C g.186205204A>C CYP4V2 c.802-8_810delinsG(;)992A>C; p.(His331Pro) - CYP4V2_000018 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.00103; GnomAD_All: 0.0000755 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F194 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
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