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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MS4A1
Deletion
(intron variant)
Immunodeficiency, common variable, 5
GUncertain significance
MS4A1
(I240V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MS4A1
(I118L)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 5
+1 more
GUncertain significance
MS4A1
(A65V)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 5
GUncertain significance
MS4A1
(E105D)
Single nucleotide variant
(missense variant)
Immunodeficiency, common variable, 5
+1 more
GUncertain significance
MS4A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MS4A1
Indel
(intron variant)
Immunodeficiency, common variable, 5
GPathogenic
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