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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC39A13
(L19F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC39A13
(R40Q)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome
+4 more
GBenign
SLC39A13
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, spondylocheirodysplastic type
+1 more
GConflicting classifications of pathogenicity
SLC39A13
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC39A13
(T133M)
Single nucleotide variant
(missense variant +1 more)
SLC39A13-related condition
+10 more
GConflicting classifications of pathogenicity
SLC39A13
(Q147E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
SLC39A13
(A180G)
Single nucleotide variant
(missense variant +1 more)
SLC39A13-related condition
+3 more
GBenign/Likely benign
SLC39A13
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome
+2 more
GConflicting classifications of pathogenicity
SLC39A13
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, spondylocheirodysplastic type
+1 more
GConflicting classifications of pathogenicity
SLC39A13
Single nucleotide variant
(synonymous variant +1 more)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
SLC39A13
(A318V)
Single nucleotide variant
(synonymous variant +2 more)
Ehlers-Danlos syndrome, spondylocheirodysplastic type
+1 more
GConflicting classifications of pathogenicity
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