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Links from MedGen

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MPDU1
(K136fs)
Deletion
(frameshift variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
+1 more
GLikely benign
MPDU1
(Q247L)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(S197P)
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(splice acceptor variant)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(Y137C)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(T113S)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(P178R)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
Single nucleotide variant
(stop lost +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1, MPDU1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(I191M +1 more)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(K238R)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1, MPDU1-AS1
Deletion
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GLikely pathogenic
MPDU1
(I50T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MPDU1
(L175S)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(S172Y +1 more)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
LOC100996842, MPDU1
(C22W)
Single nucleotide variant
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(I205V)
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(V62M)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(L46P)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(R200Q +1 more)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(Q172*)
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely pathogenic
MPDU1
Single nucleotide variant
(3 prime UTR variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(3 prime UTR variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(K242Q)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(S146L)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(T113M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MPDU1
(F63L)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1, MPDU1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1, MPDU1-AS1
(L18S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MPDU1, SOX15
Single nucleotide variant
(3 prime UTR variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(3 prime UTR variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(A135T)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(Q243H)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(T160M)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(V218L)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GBenign/Likely benign
MPDU1
(S221C)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1, MPDU1-AS1
(G7*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GLikely pathogenic
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
+1 more
GLikely benign
MPDU1
Single nucleotide variant
(splice acceptor variant)
MPDU1-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
MPDU1, MPDU1-AS1
(E4K)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(S160fs)
Deletion
(frameshift variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(S152fs +1 more)
Deletion
(frameshift variant +1 more)
MPDU1-congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
MPDU1
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GLikely benign
MPDU1
(Q126P)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GLikely pathogenic
MPDU1
(G104S)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GLikely pathogenic
MPDU1, MPDU1-AS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
MPDU1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MPDU1
Single nucleotide variant
(3 prime UTR variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
MPDU1
Single nucleotide variant
(3 prime UTR variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(3 prime UTR variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(G225S)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+2 more
GBenign
MPDU1
(A187V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-related condition
+2 more
GConflicting classifications of pathogenicity
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MPDU1
(L41V)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
MPDU1, MPDU1-AS1
(P15S)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
MPDU1
(A229T)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GBenign
MPDU1
(A135P)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign
MPDU1
(L74S)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GPathogenic
MPDU1, MPDU1-AS1
(M1T)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GPathogenic
MPDU1
(L119P)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GPathogenic
MPDU1
(G73E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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