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Items: 2

  • Unknown field was ignored: [Variant ID].
VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:50745656
GRCh38:
Chr16:50711745
NOD2A612S, A585SBlau syndrome, Inflammatory bowel disease 1, Blau syndrome,
Crohn disease
Conflicting interpretations of pathogenicity
(Jul 18, 2019)
criteria provided, conflicting interpretationsVCV000319452
2.
GRCh37:
Chr16:50745656
GRCh38:
Chr16:50711745
NOD2A612T, A585TBlau syndrome, Inflammatory bowel disease 1, Psoriatic arthritis, susceptibility to,
Blau syndrome, Yao syndrome, Inflammatory bowel disease 1,
Blau syndrome, Inflammatory bowel disease 1
Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000004700
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