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 1272

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
LOC130004132, LOC130004133
+150 more
Copy number loss
See cases
GPathogenic
KAT6B, LOC110121382
+2 more
Copy number loss
See cases
GLikely benign
KAT6B, LOC130004121
Duplication
(5 prime UTR variant +1 more)
KAT6B-Related Spectrum Disorders
GUncertain significance
KAT6B
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
KAT6B
Deletion
(intron variant)
not provided
GBenign
KAT6B
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
KAT6B
(M1V)
Single nucleotide variant
(missense variant +2 more)
Blepharophimosis - intellectual disability syndrome, SBBYS type
GLikely pathogenic
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(E29V)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(H34Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KAT6B
(A35V)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GBenign
KAT6B
(S37G)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(T38A)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(H40R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KAT6B
(G41R)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(K44*)
Single nucleotide variant
(nonsense +1 more)
Blepharophimosis - intellectual disability syndrome, SBBYS type
GLikely pathogenic
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Blepharophimosis - intellectual disability syndrome, SBBYS type
+2 more
GLikely benign
KAT6B
(S54G)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(P77fs)
Deletion
(frameshift variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(G86fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
KAT6B
(K93N)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
+1 more
GUncertain significance
KAT6B
(S95fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
KAT6B
(G94E)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
+1 more
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(S98T)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(S98L)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(N100S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GBenign
KAT6B
(L102I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KAT6B
(R103C)
Single nucleotide variant
(missense variant +1 more)
KAT6B-Related Spectrum Disorders
+3 more
GConflicting classifications of pathogenicity
KAT6B
(R103L)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(N104Y)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(N104S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(R113K)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(E119Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KAT6B
(P121S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(P121L)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(N122S)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
+1 more
GConflicting classifications of pathogenicity
KAT6B
(G123V)
Single nucleotide variant
(missense variant +1 more)
KAT6B-related disorder
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
+3 more
GBenign/Likely benign
KAT6B
(L126M)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(I129V)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(I129M)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(E130K)
Single nucleotide variant
(missense variant +1 more)
Blepharophimosis - intellectual disability syndrome, SBBYS type
+1 more
GUncertain significance
KAT6B
(E130D)
Single nucleotide variant
(missense variant +1 more)
Blepharophimosis - intellectual disability syndrome, SBBYS type
GUncertain significance
KAT6B
(K131R)
Single nucleotide variant
(missense variant +1 more)
KAT6B-related disorder
GUncertain significance
KAT6B
Duplication
(inframe_insertion +1 more)
Genitopatellar syndrome
+1 more
GUncertain significance
KAT6B
(S141R)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GBenign
KAT6B
(T142I)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
+2 more
GConflicting classifications of pathogenicity
KAT6B
(T143A)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
+1 more
GConflicting classifications of pathogenicity
KAT6B
(T143I)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(N144T)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(R151Q)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(R153*)
Single nucleotide variant
(nonsense +1 more)
Genitopatellar syndrome
+1 more
GConflicting classifications of pathogenicity
KAT6B
(L154V)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(A156fs)
Duplication
(frameshift variant +1 more)
Intellectual disability
GPathogenic
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
KAT6B
(A156T)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(A156V)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(A159G)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KAT6B
(P170R)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
+1 more
GBenign/Likely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
+1 more
GLikely benign
KAT6B
(Y176*)
Duplication
(nonsense +1 more)
not provided
Gnot provided
KAT6B
(Y176C)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(G177E)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(S178I)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(G181S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KAT6B
(A184T)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(H5P)
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(S189C)
Single nucleotide variant
(missense variant +1 more)
Developmental delay
GUncertain significance
KAT6B
(A190V +1 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(H11R)
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(F191L +1 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(S193P)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GUncertain significance
KAT6B
(P14H)
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(R15C +1 more)
Single nucleotide variant
(missense variant)
Genitopatellar syndrome
GUncertain significance
KAT6B
(R15H)
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
+1 more
GLikely benign
KAT6B
(P196A)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
KAT6B
(H17Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KAT6B
(V198L)
Single nucleotide variant
(missense variant +1 more)
Genitopatellar syndrome
GBenign
KAT6B
(Y22C)
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
KAT6B
(M24T)
Single nucleotide variant
(synonymous variant +1 more)
Genitopatellar syndrome
GLikely benign
Format
Items per page
Sort by
Choose Destination