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Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:183532437
GRCh38:
Chr1:183563302
NCF2Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2, Chronic granulomatous diseaseGO-ESP:0.00092(A)
GMAF:0.01800(A)
GO-ESP:0.01511(A)
Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr1:183559402-183559410
GRCh38:
Chr1:183590267-183590275
NCF2Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2Pathogenic
(Oct 1, 1999)
no assertion criteria provided
3.
GRCh37:
Chr1:183546733
GRCh38:
Chr1:183577598
NCF2Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2Pathogenic
(Oct 1, 1999)
no assertion criteria provided
4.
GRCh37:
Chr1:183532572-183532576
GRCh38:
Chr1:183563437-183563441
NCF2Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2Pathogenic
(Oct 1, 1999)
no assertion criteria provided
5.
GRCh37:
Chr1:183546796
GRCh38:
Chr1:183577661
NCF2Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2GO-ESP:0.00005(A)Pathogenic
(Oct 1, 1999)
no assertion criteria provided
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