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Items: 1 to 100 of 432

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX9
Translocation
Camptomelic dysplasia
GPathogenic
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
CASC17, LOC108004545
+10 more
Deletion
Acampomelic campomelic dysplasia with autosomal sex reversal
GPathogenic
REVSEX, SOX9
+11 more
Indel
46,XY sex reversal 10
GPathogenic
REVSEX, LOC108004545
+2 more
Deletion
46,XY sex reversal 10
GPathogenic
LOC108021846, SOX9
+1 more
Microsatellite
not provided
GLikely benign
LOC108021846, SOX9
+1 more
Insertion
not provided
GBenign
LOC108021846, SOX9
+1 more
Microsatellite
not provided
GBenign
LOC108021846, SOX9
+1 more
Insertion
not provided
GLikely benign
LOC108021846, SOX9
+1 more
Microsatellite
not provided
GBenign
LOC108021846, SOX9
Copy number gain
See cases
GBenign
LOC108021846, SOX9
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign/Likely benign
LOC108021846, SOX9
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC108021846, SOX9
(D5E)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
+1 more
GConflicting classifications of pathogenicity
LOC108021846, SOX9
(P6S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
+1 more
GConflicting classifications of pathogenicity
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GBenign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
SOX9-related disorder
+2 more
GLikely benign
LOC108021846, SOX9
(L18P)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(S19T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(S19F)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(G20A)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(A21T)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
LOC108021846, SOX9
(S23fs)
Deletion
(frameshift variant)
SOX9-related disorder
GLikely pathogenic
LOC108021846, SOX9
(S23fs)
Deletion
(frameshift variant)
Connective tissue disorder
GLikely pathogenic
LOC108021846, SOX9
(M26V)
Single nucleotide variant
(missense variant)
SOX9-related disorder
+2 more
GBenign/Likely benign
LOC108021846, SOX9
(M26K)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(S27Y)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(D42fs)
Duplication
(frameshift variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(R47Q)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(E57fs)
Duplication
(frameshift variant)
SOX9-related disorder
GPathogenic
LOC108021846, SOX9
(P58R)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(K62del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
LOC108021846, SOX9
(E63Q)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
Deletion
(inframe_deletion)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(E66*)
Single nucleotide variant
(nonsense)
Campomelic dysplasia with autosomal sex reversal
GPathogenic
LOC108021846, SOX9
(D67G)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GBenign
LOC108021846, SOX9
(I73T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(A76S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108021846, SOX9
(A76E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
LOC108021846, SOX9
(L81V)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(G83S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108021846, SOX9
(G83R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
LOC108021846, SOX9
(Y84*)
Single nucleotide variant
(nonsense)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(D85H)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(D85fs)
Deletion
(frameshift variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(P90S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(M91fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
LOC108021846, SOX9
(M91I)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LOC108021846, SOX9
Deletion
(inframe_deletion)
Camptomelic dysplasia
GLikely pathogenic
LOC108021846, SOX9
(N96S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(S99N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX9, LOC108021846
(S99fs)
Deletion
(frameshift variant)
Campomelic dysplasia with autosomal sex reversal
GPathogenic
LOC108021846, SOX9
(H104D)
Single nucleotide variant
(missense variant)
SOX9-related disorder
GUncertain significance
LOC108021846, SOX9
(V105F)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(K106E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108021846, SOX9
(R107W)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC108021846, SOX9
(R107Q)
Single nucleotide variant
(missense variant)
Connective tissue disorder
GUncertain significance
LOC108021846, SOX9
(M109T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(M109I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC108021846, SOX9
(A111T)
Single nucleotide variant
(missense variant)
SOX9-related disorder
+1 more
GPathogenic/Likely pathogenic
LOC108021846, SOX9
(F112fs)
Deletion
(frameshift variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(M113L)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely pathogenic
LOC108021846, SOX9
(M113V)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
+1 more
GPathogenic
LOC108021846, SOX9
(M113I)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely pathogenic
LOC108021846, SOX9
(V114L)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(V114A)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(W115R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SOX9, LOC108021846
(W115*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC108021846, SOX9
(A116T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(A116V)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(Q117*)
Single nucleotide variant
(nonsense)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(A119E)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
+1 more
GUncertain significance
LOC108021846, SOX9
(R120G)
Single nucleotide variant
(missense variant)
Bent bone dysplasia
GLikely pathogenic
LOC108021846, SOX9
(R120L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC108021846, SOX9
(A124fs)
Duplication
(frameshift variant)
Camptomelic dysplasia
GLikely pathogenic
LOC108021846, SOX9
(A124P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GBenign
LOC108021846, SOX9
(D125E)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(Q126*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC108021846, SOX9
(H131fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
LOC108021846, SOX9
(N132K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108021846, SOX9
(T138K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC108021846, SOX9
(G140D)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely pathogenic
SOX9, LOC108021846
(W143C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC108021846, SOX9
Single nucleotide variant
(intron variant)
SOX9-related disorder
+1 more
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(intron variant)
Camptomelic dysplasia
GLikely benign
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