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Items: 1 to 100 of 815

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
TRY-GTA2-1, UBXN2A
+321 more
Copy number loss
See cases
GPathogenic
ABHD1, ADGRF3
+142 more
Copy number loss
See cases
GUncertain significance
DNMT3A, DTNB
+56 more
Copy number gain
See cases
GUncertain significance
DNMT3A, LOC122756673
+10 more
Copy number gain
See cases
GLikely benign
DNMT3A, LOC122756673
+13 more
Deletion
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(A687V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNMT3A
(F686S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
DNMT3A
(Y685N +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GLikely pathogenic
DNMT3A
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
DNMT3A
(P715L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DNMT3A
(P715S +3 more)
Single nucleotide variant
(missense variant +1 more)
Glioblastoma
GLikely pathogenic
DNMT3A
(A680P +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(F902S +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
+1 more
GLikely benign
DNMT3A
(R710C +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(I675T +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GLikely pathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
+1 more
GBenign/Likely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(W741* +3 more)
Single nucleotide variant
(nonsense +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
+1 more
GConflicting classifications of pathogenicity
DNMT3A
(L666R +3 more)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
GUncertain significance
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
DNMT3A
(Q886fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(R693H +3 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of the nervous system
+7 more
GPathogenic/Likely pathogenic
STier II - Potential
OOncogenic
DNMT3A
(R693P +3 more)
Single nucleotide variant
(missense variant +1 more)
Myelodysplastic syndrome
+2 more
GPathogenic/Likely pathogenic
DNMT3A
(R693L +3 more)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
GPathogenic
DNMT3A
(R693S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DNMT3A
(R693G +3 more)
Single nucleotide variant
(missense variant +1 more)
Acute myeloid leukemia
GPathogenic
DNMT3A
(R693C +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
+4 more
GPathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(V654I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(D653N +3 more)
Single nucleotide variant
(missense variant +1 more)
DNMT3A-related disorder
GUncertain significance
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
DNMT3A-related disorder
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(Y651* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
DNMT3A
(F647fs +3 more)
Deletion
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(G869A +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely pathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
DNMT3A
Single nucleotide variant
(splice acceptor variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely pathogenic
DNMT3A
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GBenign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GBenign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
DNMT3A-related disorder
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DNMT3A
Single nucleotide variant
(splice donor variant)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(E642fs +3 more)
Deletion
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(W637* +3 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability
+1 more
GPathogenic/Likely pathogenic
DNMT3A
(P626H +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(H658fs +3 more)
Deletion
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely pathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(Q657* +3 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
DNMT3A
(Q653R +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
+1 more
GLikely pathogenic
DNMT3A
(S616F +3 more)
Single nucleotide variant
(missense variant +1 more)
DNMT3A-related disorder
GUncertain significance
DNMT3A
(T643I +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely pathogenic
DNMT3A
Single nucleotide variant
(splice acceptor variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely pathogenic
DNMT3A
Single nucleotide variant
(intron variant)
DNMT3A-related disorder
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
DNMT3A-related disorder
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
DNMT3A-related disorder
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GBenign
DNMT3A
Duplication
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(splice donor variant)
not provided
Gnot provided
DNMT3A
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DNMT3A
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
DNMT3A
(A673V +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(I824fs +3 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
DNMT3A
(Q627E +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(L590P +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
DNMT3A-related disorder
GLikely benign
DNMT3A
(A583T +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(P581Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(splice acceptor variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely pathogenic
DNMT3A
Single nucleotide variant
(splice acceptor variant)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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