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Links from MedGen

Items: 1 to 100 of 167

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC39A4
(V5fs)
Indel
(frameshift variant)
Hereditary acrodermatitis enteropathica
GPathogenic
SLC39A4
(P108fs +2 more)
Deletion
(frameshift variant)
Hereditary acrodermatitis enteropathica
GLikely pathogenic
SLC39A4
(L125P +3 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4, LOC130001397
(G14W +3 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GConflicting classifications of pathogenicity
SLC39A4
(G60R)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(G132R +3 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GLikely pathogenic
SLC39A4
Single nucleotide variant
(splice acceptor variant)
Hereditary acrodermatitis enteropathica
+1 more
GLikely pathogenic
SLC39A4
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
SLC39A4
Deletion
(nonsense)
Hereditary acrodermatitis enteropathica
+1 more
GPathogenic/Likely pathogenic
SLC39A4
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(T126M +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
+2 more
GUncertain significance
SLC39A4
(E10A)
Single nucleotide variant
(missense variant +1 more)
Hereditary acrodermatitis enteropathica
+1 more
GBenign
SLC39A4
Single nucleotide variant
(intron variant)
Hereditary acrodermatitis enteropathica
+1 more
GBenign
SLC39A4
(V2A)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC39A4
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
(V262fs +2 more)
Deletion
(frameshift variant)
Hereditary acrodermatitis enteropathica
+1 more
GPathogenic/Likely pathogenic
SLC39A4
(W307* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SLC39A4
(L31Q)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(P61L)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A4
(C259W +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(V262F +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(T279S +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(P370H +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(T148I +3 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
Deletion
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SLC39A4
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
SLC39A4
(G35A)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
Single nucleotide variant
(synonymous variant)
Hereditary acrodermatitis enteropathica
+1 more
GConflicting classifications of pathogenicity
SLC39A4
(G155S +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(V485L +3 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(R115W +3 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(E144K +3 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
Single nucleotide variant
(3 prime UTR variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
Single nucleotide variant
(3 prime UTR variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(G54R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
Single nucleotide variant
(synonymous variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(G409R +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(D402H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC39A4
(S346T +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(V93I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(S258L +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
+2 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(synonymous variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(P462S +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(R445H +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary acrodermatitis enteropathica
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
Hereditary acrodermatitis enteropathica
GLikely benign
SLC39A4
Single nucleotide variant
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(Q120H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(A76V +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
+1 more
GUncertain significance
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(intron variant)
Hereditary acrodermatitis enteropathica
+1 more
GBenign/Likely benign
SLC39A4
(A247V +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
SLC39A4
(E383K +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary acrodermatitis enteropathica
GUncertain significance
LOC130001397, SLC39A4
(A12G +3 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
GUncertain significance
LOC130001397, SLC39A4
Single nucleotide variant
(synonymous variant)
Hereditary acrodermatitis enteropathica
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
(P82L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC39A4
(E191K +2 more)
Single nucleotide variant
(missense variant)
Hereditary acrodermatitis enteropathica
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
SLC39A4-related disorder
+1 more
GBenign/Likely benign
SLC39A4
(V43L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
SLC39A4-related disorder
+1 more
GLikely benign
SLC39A4
(C37S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC39A4
(N327Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
(A120V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SLC39A4
(R402C +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(intron variant)
Hereditary acrodermatitis enteropathica
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
SLC39A4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary acrodermatitis enteropathica
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(intron variant)
Hereditary acrodermatitis enteropathica
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
Hereditary acrodermatitis enteropathica
+1 more
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC39A4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
SLC39A4
(A26S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
Hereditary acrodermatitis enteropathica
+1 more
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC39A4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC39A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
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