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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC128772255, LOC129935411
+1 more
(D38N)
Single nucleotide variant
(missense variant +3 more)
Autoimmune lymphoproliferative syndrome type 2B
GUncertain significance
CASP8
(D99E +1 more)
Single nucleotide variant
(missense variant +3 more)
Autoimmune lymphoproliferative syndrome type 2B
GUncertain significance
CASP8
(I144M +3 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 2B
+2 more
GUncertain significance
CASP8
(K148R +3 more)
Single nucleotide variant
(missense variant +2 more)
Autoimmune lymphoproliferative syndrome type 2B
+1 more
GUncertain significance
CASP8
(P494L +14 more)
Single nucleotide variant
(missense variant +1 more)
Autoimmune lymphoproliferative syndrome type 2B
GUncertain significance
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