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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL6R
(S95*)
Single nucleotide variant
(nonsense +1 more)
Hyper-IgE recurrent infection syndrome 5, autosomal recessive
GUncertain significance
IL6R
(M211T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL6R
(V43M)
Single nucleotide variant
(missense variant +1 more)
Hyper-IgE recurrent infection syndrome 5, autosomal recessive
+1 more
GUncertain significance
IL6R
(P306L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IL6R
(I279N +2 more)
Single nucleotide variant
(missense variant)
Hyper-IgE recurrent infection syndrome 5, autosomal recessive
GPathogenic
IL6R
(G183fs +1 more)
Deletion
(frameshift variant)
Hyper-IgE recurrent infection syndrome 5, autosomal recessive
GPathogenic
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