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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLM
(V4A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer
+5 more
GConflicting classifications of pathogenicity
BLM
(R15H)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
BLM
(S33L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BLM
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
BLM
(D64V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(N92D)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(Q123R)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+2 more
GUncertain significance
BLM
(S181I)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
BLM
(K323R)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BLM
(E24Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BLM
(S499F +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BLM
(R643H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
BLM
(P707S +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(K755E +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+5 more
GConflicting classifications of pathogenicity
BLM
(L401V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BLM
(S778C +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(Q600fs +1 more)
Deletion
(frameshift variant)
BLM-related condition
+3 more
GPathogenic
BLM
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BLM
(D1010fs +1 more)
Deletion
(frameshift variant)
Bloom syndrome
+2 more
GPathogenic/Likely pathogenic
BLM
(T1015I +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+3 more
GUncertain significance
BLM
(D1080N +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+2 more
GConflicting classifications of pathogenicity
BLM
(S1209T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BLM
(G1308R +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BLM
(I1376V +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
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