U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B4GALNT1
(A112E +8 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 26
GLikely pathogenic
B4GALNT1
Indel
(splice acceptor variant)
Hereditary spastic paraplegia 26
GLikely pathogenic
B4GALNT1
(G140fs +1 more)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 26
GPathogenic
B4GALNT1
(S116F +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
B4GALNT1
(R450C +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 26
GPathogenic
B4GALNT1
(R417P +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 26
GPathogenic
B4GALNT1
(K279N +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
B4GALNT1
(A308G +1 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
B4GALNT1
Single nucleotide variant
(splice acceptor variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
B4GALNT1
(M460I +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 26
+3 more
GUncertain significance
B4GALNT1
(E243G +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 26
+1 more
GUncertain significance
B4GALNT1
(G467E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
B4GALNT1
(G265R +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
B4GALNT1
(D433A +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 26
GPathogenic
B4GALNT1
(Q120*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
B4GALNT1
(L89fs)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
B4GALNT1
(R228* +1 more)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 26
GPathogenic
B4GALNT1
(P132fs +1 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 26
GPathogenic
Format
Items per page
Sort by
Choose Destination