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Links from MedGen

Items: 1 to 100 of 3495

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GPathogenic
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
(S923R +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(S338P)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(splice donor variant)
Bloom syndrome
GLikely pathogenic
BLM
(R330G)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
(S213P)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
(Q1131* +2 more)
Single nucleotide variant
(nonsense)
Bloom syndrome
GPathogenic
BLM
(D189N +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
(D877Y +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
(P12T +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Deletion
(intron variant)
Bloom syndrome
GBenign
BLM
(C310fs +1 more)
Deletion
(frameshift variant)
Bloom syndrome
GPathogenic
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
(S550F +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
+1 more
GLikely benign
BLM
(F89L)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(5 prime UTR variant +1 more)
Bloom syndrome
GLikely benign
BLM
(Y430F +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(G1308A +2 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(C607R +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+1 more
GUncertain significance
BLM
Deletion
(intron variant)
Bloom syndrome
+1 more
GBenign/Likely benign
BLM
(F193C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(P1037S +2 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
(T127S)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
(E164D)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GUncertain significance
BLM
(G516R +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+1 more
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Deletion
(inframe_deletion +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
GLikely benign
BLM
(L701I +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(L1023fs +1 more)
Deletion
(frameshift variant)
Bloom syndrome
GPathogenic
BLM
(S186*)
Single nucleotide variant
(nonsense +1 more)
Bloom syndrome
GPathogenic
BLM
(E660* +1 more)
Indel
(nonsense)
Bloom syndrome
GPathogenic
BLM
(S1123P +2 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
+1 more
GUncertain significance
BLM
(D569N +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(M480I +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
+1 more
GLikely benign
BLM
(K873M +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Microsatellite
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
(T203R)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(Q351*)
Single nucleotide variant
(nonsense +1 more)
Bloom syndrome
GPathogenic
BLM
(R927T +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(S74I)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Deletion
(intron variant)
Bloom syndrome
GBenign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
(A675G +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Deletion
(inframe_deletion)
Bloom syndrome
GUncertain significance
BLM
(M576I +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(K203R +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
(V713A +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(splice donor variant)
Bloom syndrome
GLikely pathogenic
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(splice donor variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(splice donor variant)
Bloom syndrome
GLikely pathogenic
BLM
(S1353G +2 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
(L208F)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(K205E)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
(Y389C +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Deletion
(intron variant)
Bloom syndrome
GBenign
BLM
(H1028L +1 more)
Single nucleotide variant
(missense variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
BLM
Single nucleotide variant
(intron variant)
Bloom syndrome
GLikely benign
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