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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIG1
(R771W +4 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 96
+1 more
GConflicting classifications of pathogenicity
LIG1
(R642C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LIG1
Single nucleotide variant
(intron variant)
Immunodeficiency 96
+1 more
GUncertain significance
LIG1
(P192S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
LIG1
(S17F +1 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency 96
+1 more
GBenign/Likely benign
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