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Links from MedGen

Items: 1 to 100 of 237

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108021846, SOX9
(D125E)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(T324I)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(P354S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
Deletion
(intron variant)
Camptomelic dysplasia
GBenign
LOC108021846, SOX9
(P90S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(splice donor variant)
Camptomelic dysplasia
GPathogenic
SOX9
(I203F)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(intron variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(intron variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(intron variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(D85H)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(T399M)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Indel
(intron variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(F204V)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(A419fs)
Deletion
(frameshift variant)
Camptomelic dysplasia
GPathogenic
SOX9
(R254*)
Single nucleotide variant
(nonsense)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(A116T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(R152G)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC108021846, SOX9
(M109T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GPathogenic
SOX9
(Q186fs)
Deletion
(frameshift variant)
Camptomelic dysplasia
GLikely pathogenic
SOX9
(G302S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(E277*)
Single nucleotide variant
(nonsense)
Camptomelic dysplasia
GLikely pathogenic
SOX9
(G225S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GBenign
SOX9
(G461S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(intron variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(S216del)
Microsatellite
(inframe_deletion)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(P6S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SOX9
(G305A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SOX9
(E261A)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(P356L)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GBenign
LOC108021846, SOX9
(M91I)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(S27Y)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(N147T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Duplication
(inframe_insertion)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GBenign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(G320S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
SOX9
(P307L)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(R152P)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
+1 more
GPathogenic/Likely pathogenic
SOX9
Single nucleotide variant
(splice acceptor variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(M26K)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GBenign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(S429G)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(splice donor variant)
Camptomelic dysplasia
GPathogenic
SOX9
(R162C)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(S330T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(D290H)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Deletion
(inframe_deletion)
Camptomelic dysplasia
GUncertain significance
SOX9
(P367A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
LOC108021846, SOX9
Single nucleotide variant
(intron variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(intron variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(Y172F)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(F112fs)
Deletion
(frameshift variant)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(S228*)
Single nucleotide variant
(nonsense)
Camptomelic dysplasia
GPathogenic
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(P266L)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(D5E)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
Deletion
Camptomelic dysplasia
GPathogenic
SOX9
(R271G)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(S19F)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(E220K)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(M113L)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely pathogenic
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(G262V)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(I198F)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(P366S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SOX9
(P258S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
LOC108021846, SOX9
(L81V)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(D210G)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GUncertain significance
SOX9
(V273fs)
Insertion
(frameshift variant)
Camptomelic dysplasia
GLikely pathogenic
SOX9
(K173*)
Single nucleotide variant
(nonsense)
Camptomelic dysplasia
GPathogenic
LOC108021846, SOX9
(I73T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GPathogenic
SOX9
(P487L)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
SOX9
Duplication
(intron variant)
Camptomelic dysplasia
GLikely benign
LOC108021846, SOX9
(N96S)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(V273L)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GBenign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GBenign
LOC108021846, SOX9
(S19T)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(intron variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
SOX9
(G390A)
Single nucleotide variant
(missense variant)
Camptomelic dysplasia
GBenign
LOC108021846, SOX9
Single nucleotide variant
(synonymous variant)
Camptomelic dysplasia
GLikely benign
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