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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC39A8
Single nucleotide variant
(3 prime UTR variant +1 more)
SLC39A8-CDG
GUncertain significance
SLC39A8
(E391Q +1 more)
Single nucleotide variant
(missense variant +1 more)
SLC39A8-CDG
GUncertain significance
LOC129992876, SLC39A8
(A6fs)
Deletion
(frameshift variant)
SLC39A8-CDG
GUncertain significance
SLC39A8
(T361I +1 more)
Single nucleotide variant
(missense variant +1 more)
SLC39A8-CDG
GPathogenic
SLC39A8
(G100A +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GUncertain significance
SLC39A8
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC39A8
(C74fs)
Duplication
(frameshift variant)
SLC39A8-CDG
GPathogenic
LOC126807125, SLC39A8
(T241M +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GUncertain significance
SLC39A8
(Q106* +1 more)
Single nucleotide variant
(nonsense)
SLC39A8-CDG
GLikely pathogenic
LOC126807125, SLC39A8
(C342* +1 more)
Single nucleotide variant
(nonsense)
SLC39A8-CDG
GLikely pathogenic
LOC126807125, SLC39A8
(I273M +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GUncertain significance
LOC126807125, SLC39A8
(I255T +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
+1 more
GConflicting classifications of pathogenicity
SLC39A8
(C113S +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GLikely pathogenic
LOC126807125, SLC39A8
(W238C +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GUncertain significance
SLC39A8
(C113R +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GUncertain significance
LOC126807125, SLC39A8
(L366fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GUncertain significance
LOC129992876, SLC39A8
+1 more
(V33M +2 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GPathogenic
SLC39A8-CDG
GPathogenic
LOC126807125, SLC39A8
(N389S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC129992876, SLC39A8
+1 more
(V33M +2 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
GPathogenic
SLC39A8
(G204C +1 more)
Single nucleotide variant
(missense variant)
SLC39A8-CDG
+2 more
GConflicting classifications of pathogenicity
LOC126807125, SLC39A8
(I340N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC129992876, SLC39A8
(G38R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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