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Items: 6

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:74191615-74191616
GRCh38:
Chr7:74777269-74777270
NCF1Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1Pathogenic
(Aug 9, 2012)
no assertion criteria provided
2.
GRCh37:
Chr16:88709882
GRCh38:
Chr16:88643474
CYBAGranulomatous disease, chronic, autosomal recessive, cytochrome b-negative, Chronic granulomatous diseasePathogenic
(Feb 11, 2016)
no assertion criteria provided
3.
GRCh37:
Chr22:37260986-37260995
GRCh38:
Chr22:36864944-36864953
NCF4Chronic granulomatous diseasePathogenic
(Feb 11, 2016)
no assertion criteria provided
4.
GRCh37:
Chr22:37263476
GRCh38:
Chr22:36867434
NCF4Chronic granulomatous disease, Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type IIIPathogenic
(Feb 11, 2016)
no assertion criteria provided
5.
GRCh37:
ChrX:37655252
GRCh38:
ChrX:37795999
CYBBAtypical mycobacteriosis, familial, X-linked 2, Chronic granulomatous disease, not provided
Pathogenic
(Feb 11, 2016)
no assertion criteria provided
6.
GRCh37:
ChrX:37658225
GRCh38:
ChrX:37798972
CYBBAtypical mycobacteriosis, familial, X-linked 2, Chronic granulomatous disease, not provided
Pathogenic
(Feb 11, 2016)
no assertion criteria provided
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