U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IDUA, SLC26A1
(Q70*)
Single nucleotide variant
(3 prime UTR variant +3 more)
IDUA-related condition
+7 more
GPathogenic
HGSNAT
(G173D)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 73
+1 more
GPathogenic
HGSNAT
(G262R)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis
Gnot provided
HGSNAT
(R344C +2 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 73
+4 more
GConflicting classifications of pathogenicity
HGSNAT
(S251C +3 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-C
+1 more
GUncertain significance
NAGLU
(R177W)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis
Gnot provided
NAGLU
(R297*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2V
+2 more
GPathogenic/Likely pathogenic
NAGLU
(V334F)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-B
+1 more
GConflicting classifications of pathogenicity
NAGLU
(L497V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2V
+1 more
GPathogenic
NAGLU
(P521L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2V
+2 more
GPathogenic/Likely pathogenic
NAGLU
(S612G)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-B
+2 more
GPathogenic
NAGLU
(E634K)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-B
+2 more
GConflicting classifications of pathogenicity
NAGLU
(R643C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SGSH
(Q380R)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
SGSH
(V361fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
SGSH
(S298P)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
CARD14, SGSH
(R245H)
Single nucleotide variant
(missense variant +1 more)
SGSH-related condition
+4 more
GPathogenic
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
Format
Items per page
Sort by
Choose Destination