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Links from MedGen

Items: 1 to 100 of 749

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNMT3B, LOC126863014
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)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
LOC126863014, DNMT3B
Single nucleotide variant
(intron 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
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B, LOC126863014
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
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)
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)
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, LOC126863014
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B, LOC126863014
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Single nucleotide variant
(splice acceptor variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely pathogenic
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)
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
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, LOC126863014
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
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
GLikely benign
DNMT3B, LOC126863014
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
GLikely benign
DNMT3B
Microsatellite
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(L709F +3 more)
Single nucleotide variant
(synonymous variant +1 more)
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
(W742R +3 more)
Single nucleotide variant
(synonymous variant +1 more)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(R210* +4 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
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Microsatellite
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
LOC126863014, 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
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Microsatellite
(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, LOC126863014
Deletion
(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)
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, LOC126863014
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
Microsatellite
(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)
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)
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 +1 more)
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
(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
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
(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)
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
(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)
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)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B, LOC126863014
Single nucleotide variant
(synonymous variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
DNMT3B
(R423* +6 more)
Single nucleotide variant
(nonsense)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GPathogenic
DNMT3B
Deletion
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GBenign
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
GLikely benign
DNMT3B, LOC126863014
Single nucleotide variant
(intron variant)
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
GLikely benign
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