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Items: 1 to 100 of 4339

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057806, LOC130057807
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057831, LOC130057832
+664 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC121530602, LOC121530603
+517 more
Copy number gain
See cases
GPathogenic
LOC129390732, LOC129390733
+500 more
Copy number gain
See cases
GPathogenic
LOC126862240, LOC126862241
+311 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
BLM, CIB1
+44 more
Copy number loss
See cases
GUncertain significance
BLM, CRTC3-AS1
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
BLM
Single nucleotide variant
(5 prime UTR variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(5 prime UTR variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(5 prime UTR variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(5 prime UTR variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(5 prime UTR variant)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
Single nucleotide variant
(intron variant)
not specified
GBenign
BLM
Single nucleotide variant
(intron variant)
not provided
GBenign
BLM
Single nucleotide variant
(intron variant)
not provided
GBenign
BLM
Single nucleotide variant
(intron variant)
not provided
GBenign
BLM
Deletion
Bloom syndrome
GPathogenic
BLM
Duplication
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(splice acceptor variant)
Bloom syndrome
GUncertain significance
BLM, LOC130057935
Duplication
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
(M1V)
Single nucleotide variant
(missense variant +2 more)
Bloom syndrome
GUncertain significance
BLM
(M1L)
Single nucleotide variant
(missense variant +2 more)
Bloom syndrome
GLikely pathogenic
BLM
(M1T)
Single nucleotide variant
(missense variant +2 more)
Bloom syndrome
+1 more
GLikely pathogenic
BLM
(A2S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BLM
(A2D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
(V4fs)
Duplication
(frameshift variant +1 more)
Bloom syndrome
GLikely pathogenic
BLM
(A3T)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
+1 more
GLikely benign
BLM
(V4L)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(V4F)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(V4I)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(V4D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BLM
(V4A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer
+5 more
GConflicting classifications of pathogenicity
BLM
(P5S)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(P5L)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(Q6P)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
BLM
(N7S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
(N8K)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(5 prime UTR variant +1 more)
Bloom syndrome
GLikely benign
BLM
(L9V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
GLikely benign
BLM
(Q10*)
Single nucleotide variant
(nonsense +1 more)
Bloom syndrome
GPathogenic
BLM
(Q10R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
GLikely benign
BLM
(E11G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BLM
(E14K)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(E14Q)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
GLikely benign
BLM
(R15S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BLM
(R15C)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+4 more
GConflicting classifications of pathogenicity
BLM
(R15H)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
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
(H16Y)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+1 more
GUncertain significance
BLM
(H16D)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
+1 more
GLikely benign
BLM
(S17L)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
(A18V)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BLM
(R19K)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BLM
(R19S)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+1 more
GUncertain significance
BLM
(T20I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
(L21V)
Indel
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BLM
(L21V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
(N23del)
Microsatellite
(inframe_deletion +1 more)
Bloom syndrome
GUncertain significance
BLM
(N22D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BLM
(L25fs)
Deletion
(5 prime UTR variant +1 more)
Bloom syndrome
GPathogenic/Likely pathogenic
BLM
(L25*)
Single nucleotide variant
(nonsense +1 more)
Bloom syndrome
GPathogenic
BLM
(L25S)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
+1 more
GUncertain significance
BLM
(S26fs)
Deletion
(frameshift variant +1 more)
Bloom syndrome
GPathogenic
BLM
(L25F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
+1 more
GLikely benign
BLM
(S26N)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
(L27F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
BLM
(S28*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
BLM
Deletion
(nonsense +1 more)
Bloom syndrome
GPathogenic
BLM
(S28*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
BLM
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
+1 more
GLikely benign
BLM
(K29R)
Single nucleotide variant
(missense variant +1 more)
Bloom syndrome
GUncertain significance
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
+1 more
GLikely benign
BLM
(P30A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
(P30T)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BLM
Deletion
(splice donor variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
BLM
Single nucleotide variant
(synonymous variant +1 more)
Bloom syndrome
+1 more
GLikely benign
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