U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLM
(S28*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
BLM
(D133fs)
Duplication
(frameshift variant +1 more)
Bloom syndrome
GPathogenic
BLM
(A135S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BLM
Deletion
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
BLM
(R191I)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+1 more
GUncertain significance
BLM
(T200A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BLM
(T203fs)
Microsatellite
(frameshift variant +1 more)
Bloom syndrome
GPathogenic/Likely pathogenic
BLM
(E222K)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(splice acceptor variant)
Bloom syndrome
GPathogenic/Likely pathogenic
BLM
(A363V)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+1 more
GUncertain significance
BLM
(S434* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
BLM
(N448fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
BLM
(D542fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
BLM
(Q548* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BLM
(D606fs +1 more)
Deletion
(frameshift variant)
Bloom syndrome
GLikely pathogenic
BLM
(Q645* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
BLM
(K287fs +1 more)
Deletion
(frameshift variant)
Bloom syndrome
GPathogenic
BLM
(Q700* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BLM
(L376fs +1 more)
Insertion
(frameshift variant)
Bloom syndrome
+1 more
GPathogenic/Likely pathogenic
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GConflicting classifications of pathogenicity
BLM
(L487M +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(R899* +1 more)
Single nucleotide variant
(nonsense)
Bloom syndrome
+2 more
GPathogenic/Likely pathogenic
BLM
(C1055S +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+1 more
GPathogenic
BLM
Deletion
(splice donor variant)
Bloom syndrome
+1 more
GLikely pathogenic
BLM
(E1143K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(splice donor variant +1 more)
Bloom syndrome
+2 more
GPathogenic/Likely pathogenic
BLM
(S1209T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BLM
(E838fs +1 more)
Deletion
(frameshift variant +1 more)
Bloom syndrome
GPathogenic/Likely pathogenic
BLM
(V869I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BLM
(R1203fs +2 more)
Deletion
(frameshift variant)
Bloom syndrome
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination