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Items: 1 to 100 of 300

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
ABCC9, AEBP2
+133 more
Copy number loss
See cases
GLikely pathogenic
ABCC9, AEBP2
+179 more
Copy number loss
See cases
GPathogenic
LOC132090076, SOX5
Deletion
Optic nerve hypoplasia
GPathogenic
LINC00477, LOC110120948
+13 more
Copy number loss
See cases
GLikely pathogenic
LOC132090076, SOX5
Deletion
Lamb-Shaffer syndrome
GPathogenic
LOC132090076, SOX5
Deletion
Lamb-Shaffer syndrome
GPathogenic
SOX5
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
SOX5
(Q375H +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(G365V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(E355K +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX5
(G331V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(G331R +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(V329G +5 more)
Single nucleotide variant
(missense variant)
SOX5-related disorder
GUncertain significance
SOX5
(T699A +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SOX5
(I323M +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
SOX5
(V312M +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SOX5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SOX5
(S680L +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
SOX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX5
(T286fs +5 more)
Duplication
(frameshift variant)
not specified
GUncertain significance
SOX5
(Q279E +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(Y273* +5 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SOX5
(Y273N +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(R267W +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX5
(K252R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(T619N +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GLikely pathogenic
SOX5
(Y610C +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SOX5
(Y237H +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GLikely pathogenic
SOX5
(D236N +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
+1 more
GConflicting classifications of pathogenicity
SOX5
(P586fs +5 more)
Deletion
(frameshift variant)
Lamb-Shaffer syndrome
GPathogenic
SOX5
(K233R +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(H495Q +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX5
(R598G +5 more)
Single nucleotide variant
(missense variant)
Cerebral visual impairment and intellectual disability
GLikely pathogenic
SOX5
(E486* +5 more)
Single nucleotide variant
(nonsense)
Lamb-Shaffer syndrome
GPathogenic
SOX5
(Y484S +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GLikely pathogenic
SOX5
(Y605C +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SOX5
(Q217* +5 more)
Single nucleotide variant
(nonsense)
Lamb-Shaffer syndrome
GPathogenic
SOX5
(E215K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(N213K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(M562V +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GLikely pathogenic
SOX5
(W208* +5 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SOX5
(R207H +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SOX5
Single nucleotide variant
(intron variant)
Lamb-Shaffer syndrome
+1 more
GBenign
SOX5
(K575N +5 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SOX5
(S201T +5 more)
Single nucleotide variant
(missense variant)
SOX5-related disorder
GUncertain significance
SOX5
(S201C +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GLikely pathogenic
SOX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX5
(N197S +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SOX5
(R185Q +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GPathogenic
SOX5
(R561L +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
SOX5
(R558W +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
+1 more
GPathogenic/Likely pathogenic
SOX5
(W180* +5 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SOX5
(V179E +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GLikely pathogenic
SOX5
(N548H +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
GLikely pathogenic
SOX5
(M560V +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SOX5
(P173L +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SOX5
(R172H +5 more)
Single nucleotide variant
(missense variant)
Lamb-Shaffer syndrome
+1 more
GPathogenic/Likely pathogenic
SOX5
(R523C +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
SOX5
(E167fs +5 more)
Deletion
(frameshift variant)
not provided
GPathogenic
SOX5
(R161* +5 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SOX5
(Y157C +5 more)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
GLikely benign
SOX5
(S417* +5 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic
SOX5
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
SOX5
(D146E +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(G143A +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
(S142R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX5
(S142N +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX5
Single nucleotide variant
(splice acceptor variant)
Lamb-Shaffer syndrome
GPathogenic
SOX5
Single nucleotide variant
(intron variant)
SOX5-related disorder
GUncertain significance
SOX5
(R107* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
SOX5
(L479fs +4 more)
Duplication
(frameshift variant +1 more)
Lamb-Shaffer syndrome
GPathogenic
SOX5
(S476N +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SOX5
(V448A +4 more)
Single nucleotide variant
(missense variant +1 more)
SOX5-related disorder
GUncertain significance
SOX5
(A447P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SOX5
(D443V +4 more)
Single nucleotide variant
(missense variant +1 more)
SOX5-related disorder
GUncertain significance
SOX5
(E438Q +4 more)
Single nucleotide variant
(missense variant +1 more)
SOX5-related disorder
GUncertain significance
SOX5
(R437Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SOX5
(R436* +4 more)
Single nucleotide variant
(nonsense +1 more)
Lamb-Shaffer syndrome
GPathogenic
SOX5
(M456T +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SOX5
(K445R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SOX5
(H418Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SOX5
(Y414C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SOX5
Single nucleotide variant
(intron variant)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(I412T +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SOX5
(I412fs +4 more)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
SOX5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SOX5
(A400S +4 more)
Single nucleotide variant
(missense variant +1 more)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(A396V +4 more)
Single nucleotide variant
(missense variant +1 more)
Lamb-Shaffer syndrome
GUncertain significance
SOX5
(G414D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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