U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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