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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBN
(P299fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
NBN
(W293*)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
NBN
(Y281*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
NBN
(Q244*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
NBN
(G219fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
NBN
(L281fs +1 more)
Duplication
(frameshift variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GPathogenic
NBN
(Q279fs +1 more)
Deletion
(frameshift variant)
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
NBN
(E166fs +1 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NBN
(K151fs)
Deletion
(frameshift variant)
not provided
+4 more
GPathogenic
NBN
(F145fs +1 more)
Deletion
(frameshift variant)
Microcephaly, normal intelligence and immunodeficiency
Gnot provided
NBN
(K137fs +1 more)
Deletion
(frameshift variant)
NBN-related condition
+8 more
GPathogenic
NBN
(R215W +1 more)
Single nucleotide variant
(missense variant)
NBN-related condition
+4 more
GConflicting classifications of pathogenicity
NBN
(Y28*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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