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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SGSH
(E447K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
SGSH
(H383fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely pathogenic
SGSH
(S366fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-III-A
GLikely pathogenic
SGSH
(V361fs)
Deletion
(frameshift variant +2 more)
Mucopolysaccharidosis, MPS-III-A
+1 more
GPathogenic
CARD14, SGSH
(R245H)
Single nucleotide variant
(missense variant +1 more)
SGSH-related condition
+4 more
GPathogenic
SGSH
(R206P)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic/Likely pathogenic
SGSH
(R182C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SGSH
(H181R)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GUncertain significance
SGSH
(R150W)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GConflicting classifications of pathogenicity
SGSH
(G122R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SGSH
(R74H)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GPathogenic/Likely pathogenic
SGSH
(R74C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SGSH, SLC26A11
(S66W)
Single nucleotide variant
(missense variant +1 more)
SGSH-related condition
+4 more
GPathogenic
SGSH
(Y40N)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-III-A
GLikely pathogenic
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