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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCLRE1C
(S535L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
DCLRE1C
(S515fs +2 more)
Duplication
(frameshift variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
DCLRE1C
(T622I +2 more)
Single nucleotide variant
(missense variant +2 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GUncertain significance
DCLRE1C
(T437fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
DCLRE1C
(L111I)
Single nucleotide variant
(missense variant +3 more)
Severe combined immunodeficiency due to DCLRE1C deficiency
+1 more
GUncertain significance
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