Hypothesis

16 Matching Annotations

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Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
  
  PMID: 18241071
  
  Gene: PAX6
  
  Variant NM_001368894.2:c.-128-2del
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Disease PAX6-related ocular dysgenesis MONDO:0800183
  
  Gene:PAX6 Variant c.-128-2del ClinGen inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
  
  PMID: 18241071
  
  Gene: PAX6
  
  Variant NM_001368894.2:c.-128-2del
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Disease PAX6-related ocular dysgenesis MONDO:0800183
  
  Gene:PAX6 Variant c.-128-2del ClinGen inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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Tags

inferred_gene_hgnc:8620

inferred_gene_source:Gene_Name

ClinGen

Variant

UNC Biocuration Core

Gene:PAX6

c.-128-2del

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/ajmg.a.32209
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism
  
  PMID: 30334364
  
  Variant NM_000280.5:c.1123C>A (p.Pro375Thr)
  
  Gene: PAX6
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Gene:PAX6 ClinGen Variant VariantCuration inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism
  
  PMID: 30334364
  
  Variant NM_000280.5:c.1123C>A (p.Pro375Thr)
  
  Gene: PAX6
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Gene:PAX6 ClinGen Variant VariantCuration inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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VariantCuration

inferred_gene_hgnc:8620

inferred_gene_source:Gene_Name

ClinGen

Variant

UNC Biocuration Core

Gene:PAX6

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC6305634/
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

A new PAX6 mutation in familial aniridia

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A new PAX6 mutation in familial aniridia
  
  PMID: 7666404
  
  Variant NM_001368894.2:c.1225G>C(p.Gly409Arg)
  
  Gene: PAX6
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Notes SNP at last nucleotide in exon 13 leads to loss of donor site and exon skipping event.
  
  ClinGen Variant Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A new PAX6 mutation in familial aniridia
  
  PMID: 7666404
  
  Variant NM_001368894.2:c.1225G>C(p.Gly409Arg)
  
  Gene: PAX6
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Notes SNP at last nucleotide in exon 13 leads to loss of donor site and exon skipping event.
  
  ClinGen Variant Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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inferred_gene_source:Gene_Name

inferred_gene_hgnc:8620

ClinGen

Variant

UNC Biocuration Core

Gene:PAX6

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/7666404/
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
  
  PMID: 18776953
  
  Gene: PAX6
  
  Variant c.-129+9G>A
  
  Disease: Ocular dysgenesis
  
  MonDO: MONDO:0700246
  
  InheritancePattern: AD
  
  Gene:PAX6 ClinGen Variant VariantCuration inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
  
  PMID: 18776953
  
  Gene: PAX6
  
  Variant c.-129+9G>A
  
  Disease: Ocular dysgenesis
  
  MonDO: MONDO:0700246
  
  InheritancePattern: AD
  
  Gene:PAX6 ClinGen Variant VariantCuration inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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Tags

VariantCuration

inferred_gene_hgnc:8620

inferred_gene_source:Gene_Name

ClinGen

Variant

UNC Biocuration Core

Gene:PAX6

Annotators

ClingenBaseline

URL

ncbi.nlm.nih.gov/pmc/articles/PMC2530489/
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu

A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient
  
  PMID: 19607881
  
  Variant NM_001368894.2:c.136C>G(p.Leu46Val)
  
  Gene: PAX6
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Gene:PAX6 ClinGen VariantCuration inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient
  
  PMID: 19607881
  
  Variant NM_001368894.2:c.136C>G(p.Leu46Val)
  
  Gene: PAX6
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Gene:PAX6 ClinGen VariantCuration inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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Tags

VariantCuration

inferred_gene_source:Gene_Name

inferred_gene_hgnc:8620

ClinGen

UNC Biocuration Core

Gene:PAX6

Annotators

ClingenBaseline

URL

www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0304394009009392
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu

A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia
  
  PMID:
  
  Gene: PAX6
  
  Variant NM_000280.5:c.333C>A(p.Val111=)
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Notes In Table 1. and Figure 3 there are nice illustrations of the consequences of this variant leading to a 27bp truncation in exon 6, in frame, which causes an AA deletion p.Cys112_Val120del version of PAX6. No patient phenotype data is available.
  
  VariantCuration ClinGen Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia
  
  PMID:
  
  Gene: PAX6
  
  Variant NM_000280.5:c.333C>A(p.Val111=)
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Notes In Table 1. and Figure 3 there are nice illustrations of the consequences of this variant leading to a 27bp truncation in exon 6, in frame, which causes an AA deletion p.Cys112_Val120del version of PAX6. No patient phenotype data is available.
  
  VariantCuration ClinGen Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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Tags

VariantCuration

inferred_gene_source:Gene_Name

inferred_gene_hgnc:8620

ClinGen

UNC Biocuration Core

Gene:PAX6

Annotators

ClingenBaseline

URL

onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/abs/10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu

Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism
  
  PMID 30098700
  
  Variant ClinGen c.1165C>A p.Pro375Thr Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism
  
  PMID 30098700
  
  Variant ClinGen c.1165C>A p.Pro375Thr Gene:PAX6 inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
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Tags

c.1165C>A p.Pro375Thr

inferred_gene_hgnc:8620

inferred_gene_source:Gene_Name

ClinGen

Variant

UNC Biocuration Core

Gene:PAX6

Annotators

ClingenBaseline

URL

www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0015028218303352
academic-oup-com.libproxy.lib.unc.edu academic-oup-com.libproxy.lib.unc.edu

Statistical features of human exons and their flanking regions

2
1. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  PMID: 9536098
  
  Gene: PAX6
  
  Variant NM_001368894.2:c.-128-2del
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Disease PAX6-related ocular dysgenesis MONDO:0800183
  
  Gene:PAX6 ClinGen c.-128-2del Variant inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
2. ClingenBaseline 21 Oct 2026
  
  in Baseline Annotations
  
  PMID: 9536098
  
  Gene: PAX6
  
  Variant NM_001368894.2:c.-128-2del
  
  Disease: Ocular dysgenesis
  
  InheritancePattern: AD
  
  Disease PAX6-related ocular dysgenesis MONDO:0800183
  
  Gene:PAX6 ClinGen c.-128-2del Variant inferred_gene_hgnc:8620 inferred_gene_source:Gene_Name UNC Biocuration Core
Visit annotations in context

Tags

inferred_gene_hgnc:8620

inferred_gene_source:Gene_Name

ClinGen

Variant

UNC Biocuration Core

Gene:PAX6

c.-128-2del

Annotators

ClingenBaseline

URL

academic-oup-com.libproxy.lib.unc.edu/hmg/article/7/5/919/759675