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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CARD8
(S227G +6 more)
Single nucleotide variant
(missense variant +1 more)
Inflammatory bowel disease 30
GLikely benign
CARD8
(S47G)
Single nucleotide variant
(missense variant +3 more)
Inflammatory bowel disease 30
GUncertain significance
CARD8
(E204* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
CARD8
(V44I)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
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