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Links from MedGen

Items: 1 to 100 of 424

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNMT3A
(P495fs +3 more)
Deletion
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely pathogenic
DNMT3A
(D513G +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
(G320R +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(G111S +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
(A149T)
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
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
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
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(M287I +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(splice donor variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely pathogenic
DNMT3A, LOC129933290
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
(A117G +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Indel
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(R710C +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
(P5S)
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
(K366R +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
GUncertain significance
DNMT3A
(E544* +3 more)
Duplication
(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
(L285P +3 more)
Single nucleotide variant
(missense 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
(E123Q)
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
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(R33C)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(P385L +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A, LOC129933290
(E159K)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(non-coding transcript 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
Single nucleotide variant
(intron variant)
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
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(D91N +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
DNMT3A-related disorder
+1 more
GLikely benign
DNMT3A
(R381W +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(E30G)
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
+1 more
GLikely benign
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
(T422I +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(F647fs +3 more)
Deletion
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(E18K +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(R209C)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(R53K)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(T65M)
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, LOC129933290
(M161K)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
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
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
(P22T +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
(G512fs +3 more)
Duplication
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(P99L)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(intron variant)
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
(I32T +2 more)
Single nucleotide variant
(missense variant +2 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(D11fs)
Deletion
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(W753* +3 more)
Single nucleotide variant
(nonsense +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(L125V)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Deletion
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(Q627E +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(A680P +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(F67fs +3 more)
Deletion
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(A583T +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A, LOC129933290
(Q153*)
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
(G370E +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(F161fs +3 more)
Deletion
(frameshift variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GPathogenic
DNMT3A
(N241S +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(A673V +3 more)
Single nucleotide variant
(non-coding transcript 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
Single nucleotide variant
(intron variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely benign
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
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
GLikely benign
DNMT3A
(T124I)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(R38C)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
(Y735S +3 more)
Single nucleotide variant
(missense variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
GUncertain significance
DNMT3A
Single nucleotide variant
(splice donor variant)
Tatton-Brown-Rahman overgrowth syndrome
GLikely pathogenic
DNMT3A
Single nucleotide variant
(synonymous variant +1 more)
Tatton-Brown-Rahman overgrowth syndrome
+1 more
GLikely benign
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