Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Species
Category
Variant Type
Molecular Consequence
Diseases
Genes
Allele/Variant Diseases: renal cell carcinoma
Nf2tm2Gth
(Mus musculus)Allele/Variant
Source: MGI:1926955
Genes: Nf2 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: renal cell carcinoma, otitis media, vestibular schwannomatosis, coloboma
Variant Name: Not Available
Flcntm1Btt
(Mus musculus)Allele/Variant
Source: MGI:3829641
Genes: Flcn (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Birt-Hogg-Dube syndrome, nonpapillary renal cell carcinoma
Variant Name: Not Available
hu2117
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-090611-1
Genes: vhl (Dre)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: clear cell renal cell carcinoma, von Hippel-Lindau disease, familial erythrocytosis 2
Variant Name: Not Available
ok161
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00091484
Genes: vhl-1 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: 5_prime_UTR_variant, coding_sequence_variant, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: clear cell renal cell carcinoma, von Hippel-Lindau disease
Variant Name: Not Available