U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNMT3B, LOC126863014
(E419K +4 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GUncertain significance
DNMT3B
Deletion
(inframe_deletion +1 more)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
(H655R +5 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GLikely pathogenic
DNMT3B
(R664G +5 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GLikely pathogenic
DNMT3B
(R284Q +4 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GUncertain significance
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GBenign
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
(R397Q +4 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
(L158P +3 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
(I628M +4 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GBenign
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GLikely benign
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GBenign/Likely benign
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
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, LOC126863014
(V482M +4 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
GConflicting classifications of pathogenicity
DNMT3B
(T104M +3 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GUncertain significance
DNMT3B, LOC130065670
Single nucleotide variant
(5 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
(R104W +1 more)
Single nucleotide variant
(missense variant +1 more)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GUncertain significance
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GLikely benign
DNMT3B
(R806C +5 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
(F438S +4 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+2 more
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+3 more
GConflicting classifications of pathogenicity
DNMT3B, LOC126863014
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(synonymous variant +1 more)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GBenign
DNMT3B
Single nucleotide variant
(synonymous variant +1 more)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GConflicting classifications of pathogenicity
DNMT3B, LOC126863014
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GConflicting classifications of pathogenicity
DNMT3B
(G156W +3 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+2 more
GUncertain significance
DNMT3B
(Q783fs +2 more)
Deletion
(frameshift variant +1 more)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GPathogenic/Likely pathogenic
DNMT3B
(D626N +4 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GUncertain significance
DNMT3B, LOC126863014
(R511C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+2 more
GConflicting classifications of pathogenicity
DNMT3B
(C383Y +4 more)
Indel
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+2 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+2 more
GBenign/Likely benign
DNMT3B
(P203L +3 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+3 more
GConflicting classifications of pathogenicity
DNMT3B
(G25R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
DNMT3B
(R764S +2 more)
Single nucleotide variant
(intron variant +1 more)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+1 more
GConflicting classifications of pathogenicity
DNMT3B
(A384T +4 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+2 more
GBenign
DNMT3B
(R382C +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DNMT3B
(V296I +3 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+2 more
GConflicting classifications of pathogenicity
DNMT3B
(V444M +4 more)
Single nucleotide variant
(missense variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
+3 more
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Deletion
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GBenign
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Deletion
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GLikely benign
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GBenign
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GBenign
DNMT3B
Deletion
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Duplication
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
(V771I +2 more)
Single nucleotide variant
(missense variant +1 more)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
DNMT3B
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GBenign
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GBenign
DNMT3B
Single nucleotide variant
(synonymous variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B
(V602I +4 more)
Single nucleotide variant
(missense variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+1 more
GConflicting classifications of pathogenicity
DNMT3B
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
DNMT3B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
+2 more
GBenign
DNMT3B
Single nucleotide variant
(intron variant)
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
GUncertain significance
DNMT3B, LOC126863014
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
Format
Items per page
Sort by
Choose Destination