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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MRE11
(R628K +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MRE11
Single nucleotide variant
(splice donor variant +1 more)
Ataxia-telangiectasia-like disorder
+2 more
GPathogenic/Likely pathogenic
MRE11
(T603A +1 more)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia-like disorder
+2 more
GUncertain significance
MRE11
(E600D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MRE11
(R576Q)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
MRE11
(R576*)
Single nucleotide variant
(nonsense)
Ataxia-telangiectasia-like disorder 1
+3 more
GPathogenic
MRE11
(N567D)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder
+3 more
GConflicting classifications of pathogenicity
MRE11
(L545fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia-like disorder
+2 more
GPathogenic/Likely pathogenic
MRE11
(A539V)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder 1
GUncertain significance
MRE11
(A537P)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder 1
+1 more
GUncertain significance
MRE11
(E518fs)
Duplication
(frameshift variant)
Ataxia-telangiectasia-like disorder 1
GPathogenic
MRE11
Single nucleotide variant
(splice donor variant)
Ataxia-telangiectasia-like disorder 1
GLikely pathogenic
MRE11
(V429A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder
+5 more
GConflicting classifications of pathogenicity
MRE11
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
MRE11
(H401D)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder
+2 more
GUncertain significance
MRE11
(H397P)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder
+3 more
GUncertain significance
MRE11
(S370T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MRE11
(R364*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
MRE11
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia-like disorder
+3 more
GConflicting classifications of pathogenicity
MRE11
(I340fs)
Deletion
(frameshift variant)
Ataxia-telangiectasia-like disorder 1
GPathogenic
MRE11
(K339*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
MRE11
(I320V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MRE11
(M296I)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder 1
GUncertain significance
MRE11
(W210C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MRE11
(V159A)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder 1
+4 more
GUncertain significance
MRE11
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia-like disorder 1
+1 more
GPathogenic/Likely pathogenic
MRE11
(H126R)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder 1
GUncertain significance
MRE11
(V122L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder 1
+1 more
GUncertain significance
MRE11
(N117S)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder 1
+3 more
GConflicting classifications of pathogenicity
MRE11
(S104T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
MRE11
(F103L)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia-like disorder
+2 more
GUncertain significance
MRE11
(E92K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
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