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Items: 1 to 100 of 865

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065884, LOC130065885
+2522 more
Copy number gain
See cases
GPathogenic
LOC130065574, LOC130065575
+950 more
Copy number gain
See cases
GPathogenic
LOC121627902, LOC121853002
+160 more
Copy number gain
See cases
GPathogenic
ACSS2, ACTL10
+254 more
Copy number gain
See cases
GPathogenic
DNMT3B
Single nucleotide variant
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GBenign
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GBenign
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant +1 more)
not specified
GBenign
DNMT3B
(D16H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNMT3B
(T5S +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(A14P +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+3 more
GBenign/Likely benign
DNMT3B
(G15S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(D31E +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DNMT3B
(V23I +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(G25R +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+3 more
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(D29N +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
(Q42* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GPathogenic
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(S46L +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
(E39Q +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+2 more
GConflicting classifications of pathogenicity
DNMT3B
(R54C +1 more)
Single nucleotide variant
(missense variant)
DNMT3B-related disorder
+1 more
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(T43I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(P56S +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
(P56L +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
(E45A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Deletion
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GBenign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+2 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+2 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
(G48D +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
(R61* +1 more)
Single nucleotide variant
(nonsense)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GPathogenic
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(S52R +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
(S53L +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GLikely benign
DNMT3B
(R54* +1 more)
Single nucleotide variant
(nonsense)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GPathogenic
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(S56F +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GUncertain significance
DNMT3B
(V60M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(S61F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(Y78C +1 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GBenign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant +1 more)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant +1 more)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
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