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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBN
(D641G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126860438, NBN
Microsatellite
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NBN
(F603L +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
NBN
(Q492K +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
NBN
(T452P +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+6 more
GConflicting classifications of pathogenicity
NBN
(Q448L +1 more)
Single nucleotide variant
(missense variant)
Aplastic anemia
+4 more
GConflicting classifications of pathogenicity
NBN
(I439M +1 more)
Single nucleotide variant
(missense variant)
NBN-related condition
+5 more
GConflicting classifications of pathogenicity
NBN
(Y429D +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
NBN
(K408E +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
NBN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
NBN
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
NBN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NBN
(V346M +1 more)
Single nucleotide variant
(missense variant)
NBN-related condition
+6 more
GConflicting classifications of pathogenicity
NBN
(A313V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
NBN
(R215W +1 more)
Single nucleotide variant
(missense variant)
NBN-related condition
+4 more
GConflicting classifications of pathogenicity
NBN
(P199R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
NBN
(E185Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
NBN
(I171V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+8 more
GConflicting classifications of pathogenicity
NBN
(V153A +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
NBN
(M152I +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(synonymous variant)
Microcephaly, normal intelligence and immunodeficiency
+5 more
GBenign/Likely benign
NBN
(S118del +1 more)
Microsatellite
(inframe_deletion)
Aplastic anemia
+4 more
GUncertain significance
NBN
(D95N +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(5 prime UTR variant +1 more)
NBN-related condition
+3 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
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