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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OBSL1
(L1801fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
OBSL1
(R1767Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
OBSL1
(D1734E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OBSL1
(Q1578*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
OBSL1-related condition
+2 more
GConflicting classifications of pathogenicity
OBSL1
(R1482H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OBSL1
(R1459Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(R1454Q)
Single nucleotide variant
(missense variant)
3M syndrome 2
+2 more
GBenign/Likely benign
OBSL1
(V1398I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
+3 more
GBenign/Likely benign
OBSL1
(G1321V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(G1313R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
(E1217K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
OBSL1
(G1216S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(A1095T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OBSL1
(I1081T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
OBSL1
(R1043H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
OBSL1-related condition
+3 more
GBenign/Likely benign
OBSL1
(R930H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(K905N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OBSL1
(R772H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
OBSL1-related condition
+3 more
GBenign/Likely benign
OBSL1
(V686I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
(G666fs)
Deletion
(frameshift variant)
not provided
GPathogenic
OBSL1
(I592N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
+1 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OBSL1
(V440I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(R436Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OBSL1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
OBSL1
(T425fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
OBSL1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
OBSL1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
OBSL1
(A251S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
OBSL1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
OBSL1
(A190G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OBSL1
(A167V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
OBSL1
(G133R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OBSL1
(A127V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
OBSL1
(P40R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
OBSL1
(S25R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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