U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B4GALNT1
(M460I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 26
+3 more
GUncertain significance
B4GALNT1
(G467E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
B4GALNT1
(E243G +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 26
+1 more
GUncertain significance
B4GALNT1
Indel
(splice acceptor variant)
Hereditary spastic paraplegia 26
GLikely pathogenic
B4GALNT1
(L89fs)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 26
+3 more
GPathogenic/Likely pathogenic
Format
Sort by
Choose Destination