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Items: 1 to 100 of 803

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
+1 more
GBenign/Likely benign
OBSL1
(S1886G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(D1885N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(A1882T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(Q1881E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(R1871Q)
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
GLikely benign
OBSL1
(S1858T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(D1852fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(V1839L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(H1838Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(G1837fs)
Deletion
(frameshift 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
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(K1818T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(R1816C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OBSL1
(P1814L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OBSL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
(E1804D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(E1802Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(R1781C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
3M syndrome 2
+2 more
GBenign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC129935660, OBSL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LOC129935660, OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
(R1767Q)
Single nucleotide variant
(missense variant)
3M syndrome 2
+2 more
GBenign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(G1761R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
+1 more
GBenign
OBSL1
(E1752K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(G1749R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OBSL1
(T1748M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(T1737M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(T1737K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OBSL1
(T1737A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OBSL1
(D1734E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(R1731C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(S1729N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(V1728A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
OBSL1
(S1727L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(R1726P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
(R1726W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OBSL1
(L1725Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(T1718A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
Duplication
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
(E1716Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(R1706P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(G1696R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(L1687R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(R1682L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
OBSL1
(P1672R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(P1672T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(G1665A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
OBSL1
(V1659I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(E1651*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(F1648S)
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
(T1647M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
(D1644N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
(R1633Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
OBSL1
(R1633W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OBSL1
(V1632M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
OBSL1
(V1624L)
Single nucleotide variant
(missense variant)
not provided
GBenign
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