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Links from MedGen

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POFUT1
Deletion
(intron variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(K324R)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GBenign
POFUT1
(D340G)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
(R364Q)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(R63H)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
(R232W)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(P233L)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(N82T)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(Q132E)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GBenign
POFUT1
(D348N)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(T279M)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(Q346E)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
(A224D)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(R272C)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
(W297fs)
Deletion
(frameshift variant)
Dowling-Degos disease 2
GPathogenic
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
+1 more
GBenign/Likely benign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(R122Q)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(T139M)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
(M262V)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
(V213L)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GBenign
POFUT1
(E313K)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GBenign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
GBenign
POFUT1
(M251V)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
+1 more
GBenign/Likely benign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
+1 more
GBenign/Likely benign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
+1 more
GBenign
POFUT1
(Q97*)
Single nucleotide variant
(nonsense)
Dowling-Degos disease 2
GPathogenic
POFUT1
(D30E)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
GUncertain significance
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
GLikely benign
POFUT1
(L322F)
Single nucleotide variant
(missense variant)
Dowling-Degos disease 2
+1 more
GBenign
POFUT1
Single nucleotide variant
(synonymous variant)
Dowling-Degos disease 2
+1 more
GBenign
POFUT1
Single nucleotide variant
(intron variant)
Dowling-Degos disease 2
+1 more
GBenign/Likely benign
POFUT1
(K161fs)
Deletion
(frameshift variant)
Dowling-Degos disease 2
GPathogenic
POFUT1
(E144*)
Single nucleotide variant
(nonsense)
Dowling-Degos disease 2
GPathogenic
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