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Links from MedGen

Items: 1 to 100 of 683

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNJ16
(W85*)
Single nucleotide variant
(nonsense)
PMM2-congenital disorder of glycosylation
+1 more
GPathogenic
PMM2
(E235K)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GUncertain significance
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(R239S)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(G200V)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GUncertain significance
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(V231L)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(V231L)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(N216D)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(I153K)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GPathogenic
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(C192S)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Deletion
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(C192R)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(R239T)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(C241R)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(G228S)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(V129A)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(T18A)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Indel
(splice donor variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(D78fs)
Deletion
(frameshift variant)
PMM2-congenital disorder of glycosylation
GPathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(P69L)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(F119S)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(I153M)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(L193V)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(E93D)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GUncertain significance
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(splice donor variant)
PMM2-congenital disorder of glycosylation
GPathogenic
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(G42*)
Single nucleotide variant
(nonsense)
PMM2-congenital disorder of glycosylation
GPathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(E235Q)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GUncertain significance
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(D148Y)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(I132N)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(D65N)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(I220M)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GUncertain significance
PMM2
Single nucleotide variant
(splice donor variant)
PMM2-congenital disorder of glycosylation
GPathogenic
PMM2
(V44L)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(E70*)
Single nucleotide variant
(nonsense)
PMM2-congenital disorder of glycosylation
GPathogenic
PMM2
Single nucleotide variant
(synonymous variant)
PMM2-congenital disorder of glycosylation
GLikely benign
PMM2
(Q155E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PMM2
Single nucleotide variant
(intron variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(F122fs)
Deletion
(frameshift variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(I110fs)
Insertion
(frameshift variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
Single nucleotide variant
(splice acceptor variant)
PMM2-congenital disorder of glycosylation
GPathogenic/Likely pathogenic
PMM2
(R21fs)
Duplication
(frameshift variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(Y229*)
Single nucleotide variant
(nonsense)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(L10fs)
Deletion
(frameshift variant)
PMM2-congenital disorder of glycosylation
GLikely pathogenic
PMM2
(D223E)
Single nucleotide variant
(missense variant)
PMM2-congenital disorder of glycosylation
GPathogenic/Likely pathogenic
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