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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FCHO1
(A34P)
Single nucleotide variant
(missense variant +2 more)
Severe congenital neutropenia
+1 more
GPathogenic
FCHO1
Single nucleotide variant
(non-coding transcript variant +1 more)
Immunodeficiency 76
+1 more
GPathogenic
FCHO1
Single nucleotide variant
(splice donor variant)
Severe congenital neutropenia
GPathogenic
FCHO1
(R600* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency with T and B cell lymphopenia
GPathogenic
FCHO1
(V625fs +1 more)
Duplication
(frameshift variant)
Immunodeficiency 76
+1 more
GPathogenic
FCHO1
(R629P +8 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 76
+1 more
GPathogenic
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