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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLM
(V4A)
Single nucleotide variant
(missense variant +1 more)
BLM-related condition
+5 more
GConflicting classifications of pathogenicity
BLM
(D64A)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+2 more
GUncertain significance
BLM
(D64V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(R85T)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BLM
(K137R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
BLM
(T298M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GBenign
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BLM
(N534S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(Q548* +1 more)
Single nucleotide variant
(nonsense)
BLM-related condition
+3 more
GPathogenic
BLM
Single nucleotide variant
(synonymous variant)
BLM-related condition
+3 more
GBenign/Likely benign
BLM
(R643H +1 more)
Single nucleotide variant
(missense variant)
BLM-related condition
+4 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
BLM
(P707S +1 more)
Single nucleotide variant
(missense variant)
BLM-related condition
+4 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(Y736fs +1 more)
Indel
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BLM
(K755E +1 more)
Single nucleotide variant
(missense variant)
BLM-related condition
+5 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(W428fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
BLM
(K839E +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(Q851R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
BLM
(P868L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign
BLM
(R899* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
BLM
Single nucleotide variant
(synonymous variant)
BLM-related condition
+3 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
BLM-related condition
+4 more
GConflicting classifications of pathogenicity
BLM
(Q600fs +1 more)
Deletion
(frameshift variant)
BLM-related condition
+3 more
GPathogenic
BLM
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
BLM
(A1043D +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
BLM
(D1071Y +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
+2 more
GConflicting classifications of pathogenicity
BLM
(D1080V +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+2 more
GUncertain significance
BLM
(V1085L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign
BLM
(S1209T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
(E1213K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
BLM-related condition
+4 more
GConflicting classifications of pathogenicity
BLM
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
BLM
Single nucleotide variant
(intron variant)
BLM-related condition
+4 more
GBenign/Likely benign
BLM
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
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