U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 571

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC2, ABLIM1
+821 more
Copy number gain
See cases
GPathogenic
LOC126861081, LOC126861082
+1036 more
Copy number gain
See cases
GPathogenic
ABLIM1, ABRAXAS2
+1097 more
Copy number gain
See cases
GPathogenic
ACSL5, ADD3
+318 more
Copy number loss
See cases
GPathogenic
LOC130004776, LOC130004777
+308 more
Copy number loss
See cases
GPathogenic
LOC130004745, LOC130004746
+802 more
Copy number gain
See cases
GPathogenic
LOC130004727, LOC130004728
+2 more
Copy number gain
See cases
GUncertain significance
SMC3
Single nucleotide variant
not provided
GBenign
LOC130004728, SMC3
Single nucleotide variant
not provided
GLikely benign
SMC3
Single nucleotide variant
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
De Lange syndrome
GLikely benign
SMC3
Single nucleotide variant
De Lange syndrome
GLikely benign
SMC3
Single nucleotide variant
(5 prime UTR variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
SMC3
Single nucleotide variant
(5 prime UTR variant)
Cornelia de Lange syndrome 3
GBenign
SMC3
Single nucleotide variant
(5 prime UTR variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
(5 prime UTR variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(5 prime UTR variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
(I3V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
(I3R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Deletion
(intron variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Insertion
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMC3
Duplication
(intron variant)
not provided
GBenign
SMC3
Duplication
(intron variant)
not provided
GBenign
SMC3
Deletion
(intron variant)
not provided
GLikely benign
SMC3
Deletion
(intron variant)
not provided
GBenign
SMC3
Duplication
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
not provided
GBenign
SMC3
Deletion
(intron variant)
not provided
GBenign
SMC3
Duplication
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
not provided
GBenign
SMC3
Duplication
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
SMC3
Deletion
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
(F42S)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
(F47L)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GPathogenic
SMC3
(R61W)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GConflicting classifications of pathogenicity
SMC3
Single nucleotide variant
(intron variant)
SMC3-related condition
+1 more
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
+1 more
GBenign
SMC3
Single nucleotide variant
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMC3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SMC3
(D86A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC3
(R88Q)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
SMC3-related condition
GLikely benign
SMC3
Duplication
(intron variant)
not specified
+1 more
GBenign/Likely benign
SMC3
Deletion
(intron variant)
Cornelia de Lange syndrome 3
GBenign
SMC3
Deletion
(intron variant)
Cornelia de Lange syndrome 3
GBenign
SMC3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
(D92Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMC3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
SMC3
(E95K)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GLikely pathogenic
SMC3
(R99*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SMC3
(R100K)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SMC3
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
(K105E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMC3
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Duplication
(intron variant)
Cornelia de Lange syndrome 3
GBenign
SMC3
Deletion
(intron variant)
Cornelia de Lange syndrome 3
GBenign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SMC3
Single nucleotide variant
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
not provided
GBenign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SMC3
Single nucleotide variant
(intron variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
(N123Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMC3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SMC3
(L124R)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
+1 more
GConflicting classifications of pathogenicity
SMC3
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMC3
(E126G)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GUncertain significance
SMC3
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
(S127R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
SMC3
Deletion
(inframe_deletion)
not provided
GUncertain significance
SMC3
Single nucleotide variant
(synonymous variant)
Cornelia de Lange syndrome 3
GLikely benign
SMC3
(G129V)
Single nucleotide variant
(missense variant)
Cornelia de Lange syndrome 3
GUncertain significance
Format
Items per page
Sort by
Choose Destination