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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBN
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
NBN
(W722G +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NBN
(A713G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GUncertain significance
NBN
(A710V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
LOC126860438, NBN
(K635* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
+4 more
GPathogenic/Likely pathogenic
NBN
(L446S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GUncertain significance
NBN
(T497A +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GBenign/Likely benign
NBN
(L489V +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GConflicting classifications of pathogenicity
NBN
Duplication
(intron variant)
not specified
+3 more
GBenign/Likely benign
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
NBN
(S454Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
NBN
(T452P +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
NBN
(L421S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+6 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NBN
(V346M +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+6 more
GConflicting classifications of pathogenicity
NBN
(A313V +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+4 more
GUncertain significance
NBN
(T253I +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+4 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NBN
(R215W +1 more)
Single nucleotide variant
(missense variant)
NBN-related disorder
+4 more
GConflicting classifications of pathogenicity
NBN
(Q110E +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
(R169C +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+7 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
NBN
Single nucleotide variant
(synonymous variant)
Microcephaly, normal intelligence and immunodeficiency
+5 more
GBenign/Likely benign
NBN
(R89Q +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+2 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GLikely benign
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