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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD55
(E50K)
Single nucleotide variant
(missense variant +1 more)
Protein-losing enteropathy
GUncertain significance
CD55
(W33*)
Single nucleotide variant
(nonsense +1 more)
Protein-losing enteropathy
GPathogenic
CD55
(E50*)
Single nucleotide variant
(nonsense +1 more)
Protein-losing enteropathy
GPathogenic/Likely pathogenic
CD55
Single nucleotide variant
(synonymous variant +1 more)
Cromer blood group system
+1 more
GLikely benign
CD55
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GUncertain significance
CD55
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GLikely pathogenic
CD55
(R52L)
Single nucleotide variant
(missense variant +1 more)
Protein-losing enteropathy
+2 more
GBenign/Likely benign
XDH
(P391L)
Single nucleotide variant
(missense variant)
Protein-losing enteropathy
+9 more
GUncertain significance
CD55
Single nucleotide variant
(splice acceptor variant)
Protein-losing enteropathy
GPathogenic
CD55
(C267S)
Single nucleotide variant
(missense variant +1 more)
Protein-losing enteropathy
GPathogenic
CD55
(E50fs)
Indel
(frameshift variant +1 more)
Protein-losing enteropathy
GPathogenic
CD55
(G37fs)
Deletion
(frameshift variant +1 more)
Protein-losing enteropathy
GPathogenic
CD55
(L15fs)
Deletion
(frameshift variant +1 more)
Protein-losing enteropathy
GPathogenic
XDH
(P1216H)
Single nucleotide variant
(missense variant)
not provided
+12 more
GConflicting classifications of pathogenicity
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