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Links from MedGen

Items: 1 to 100 of 253

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OBSL1
(R1454W)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(S1032N)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(H210R)
Single nucleotide variant
(missense variant)
3M syndrome 2
GLikely benign
OBSL1
(R1532S)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(S741*)
Single nucleotide variant
(nonsense)
3M syndrome 2
GLikely pathogenic
OBSL1
(E454fs)
Duplication
(frameshift variant)
3M syndrome 2
GPathogenic
OBSL1
(W647C)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(V421fs)
Duplication
(frameshift variant)
3M syndrome 2
GPathogenic
OBSL1
(K1853fs)
Insertion
(frameshift variant)
3M syndrome 2
GLikely pathogenic
OBSL1
(G1298S)
Single nucleotide variant
(missense variant)
3M syndrome 2
+1 more
GUncertain significance
OBSL1
(P1203fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
(Y308fs)
Indel
(frameshift variant)
3M syndrome 2
GLikely pathogenic
OBSL1
Duplication
(nonsense)
3M syndrome 2
GLikely pathogenic
OBSL1
(A143fs)
Duplication
(frameshift variant)
3M syndrome 2
GLikely pathogenic
OBSL1
(V359fs)
Duplication
(frameshift variant)
3M syndrome 2
GPathogenic
OBSL1
(R1485*)
Single nucleotide variant
(nonsense)
3M syndrome 2
+1 more
GConflicting classifications of pathogenicity
OBSL1
(L154fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
OBSL1
(L1362fs)
Deletion
(frameshift variant)
3M syndrome 2
GLikely pathogenic
OBSL1
Microsatellite
(intron variant)
3M syndrome 2
+1 more
GBenign
OBSL1
Single nucleotide variant
(intron variant)
3M syndrome 2
+1 more
GBenign
OBSL1
Single nucleotide variant
(intron variant)
3M syndrome 2
+1 more
GBenign
OBSL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
OBSL1
Deletion
(intron variant)
3M syndrome 2
+1 more
GBenign
OBSL1
(D722fs)
Deletion
(frameshift variant)
3M syndrome 2
GPathogenic
OBSL1
Single nucleotide variant
(intron variant)
3M syndrome 2
+1 more
GBenign
OBSL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
OBSL1
(P860S)
Indel
(missense variant)
not provided
+1 more
GBenign/Likely benign
OBSL1
(P776R)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(R1332W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OBSL1
(R1474*)
Single nucleotide variant
(nonsense)
3M syndrome 2
+2 more
GUncertain significance
OBSL1
(R1098C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
(T425fs +1 more)
Duplication
(frameshift variant +1 more)
3M syndrome 2
GPathogenic
OBSL1
(C13fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
OBSL1
(C879fs)
Deletion
(frameshift variant)
3M syndrome 2
GLikely pathogenic
3M syndrome 2
GPathogenic
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
(V303M)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
+1 more
GConflicting classifications of pathogenicity
OBSL1
(R555W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OBSL1
(P578L)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(R833Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OBSL1
(V880I)
Single nucleotide variant
(missense variant)
3M syndrome 2
+2 more
GUncertain significance
OBSL1
(V1192A)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
GUncertain significance
OBSL1
(R1228G)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
GUncertain significance
OBSL1
(N1395D)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
GUncertain significance
OBSL1
(P1401L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
(T1748M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
OBSL1
(G1749R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OBSL1
Single nucleotide variant
(5 prime UTR variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(5 prime UTR variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(5 prime UTR variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(5 prime UTR variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(5 prime UTR variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(5 prime UTR variant)
3M syndrome 2
GLikely benign
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
GUncertain significance
OBSL1
(R379Q)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(R617L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
(V911M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OBSL1
(W931G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OBSL1
(R953H)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(R1280Q)
Single nucleotide variant
(missense variant)
3M syndrome 2
+1 more
GConflicting classifications of pathogenicity
OBSL1
(G1285R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
(A1477T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129935660, OBSL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
+1 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
(R16S)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(G48S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
(G68S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
(A90T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
(R384P)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
+1 more
GConflicting classifications of pathogenicity
OBSL1
(I399V)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(Y410H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OBSL1
(E413K)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(S656G)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
(V702M)
Single nucleotide variant
(missense variant)
3M syndrome 2
+1 more
GUncertain significance
OBSL1
(G966S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OBSL1
(P993S)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
+1 more
GConflicting classifications of pathogenicity
OBSL1
(R1043C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OBSL1
(R1327Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
3M syndrome 2
GUncertain significance
OBSL1
(R1495H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OBSL1
(V1541I)
Single nucleotide variant
(missense variant +1 more)
3M syndrome 2
+1 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
OBSL1
(S783R)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
OBSL1
(G798S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
OBSL1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OBSL1
(H1092R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OBSL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSL1
(T1139P)
Single nucleotide variant
(missense variant)
3M syndrome 2
GUncertain significance
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