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Items: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:234668881-234668882
GRCh38:
Chr2:233760235-233760236
UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3Bilirubin, serum level of, quantitative trait locus 1, Crigler-Najjar syndrome, type II, Gilbert's syndrome,
Hyperbilirubinemia transient familial neonatal
GMAF:0.32530(AT)Pathogenic, Affects, association
(Apr 1, 2009)
no assertion criteria provided
2.
GRCh37:
Chr3:129247644
GRCh38:
Chr3:129528801
RHORetinitis pigmentosa 4Pathogenic
(Jan 14, 2005)
no assertion criteria provided
3.
GRCh37:
Chr19:919563
GRCh38:
Chr19:919563
KISS1RHypogonadotropic hypogonadism 8 without anosmiaPathogenic
(Nov 7, 2008)
no assertion criteria provided
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