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Items: 1 to 100 of 583

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806176, LOC126806177
+1047 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933242, LOC129933243
+1631 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1400 more
Copy number gain
See cases
GPathogenic
LOC129934199, LOC129934200
+2457 more
Copy number gain
See cases
GBenign
ABHD1, ADCY3
+321 more
Copy number loss
See cases
GPathogenic
LOC129933291, LOC129933292
+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
LOC129933293, LOC129933294
+13 more
Deletion
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
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)
Tatton-Brown-Rahman overgrowth syndrome
+1 more
GLikely benign
DNMT3A
(P715L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
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
(I675T +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GLikely pathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+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
GLikely pathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+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)
Tatton-Brown-Rahman overgrowth syndrome
+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)
Tatton-Brown-Rahman overgrowth syndrome
+4 more
GConflicting classifications of pathogenicity
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
GLikely pathogenic
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 condition
GUncertain significance
DNMT3A
(Y651* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
+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)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(splice donor variant)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(W637* +3 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GPathogenic
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 condition
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)
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
(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
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(M578I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNMT3A
(G577S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNMT3A
(N574S +3 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GUncertain significance
DNMT3A
(W643* +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
GLikely benign
DNMT3A
(M556I +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
(N553T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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
Duplication
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
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