U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC113788277, PLPBP
(M42V +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
(W128* +2 more)
Single nucleotide variant
(nonsense)
Epilepsy, early-onset, vitamin B6-dependent
GLikely pathogenic
PLPBP
(R189* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
PLPBP
(E15K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PLPBP
(A180V +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
+1 more
GConflicting classifications of pathogenicity
LOC113788277, PLPBP
(M42L +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
(W128fs +2 more)
Deletion
(frameshift variant)
Epilepsy, early-onset, vitamin B6-dependent
GPathogenic
LOC113788277, PLPBP
(R30G +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
PLPBP
(V213M +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
(Q106* +2 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, early-onset, vitamin B6-dependent
GPathogenic
LOC113788277, PLPBP
(A29V +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
LOC113788277, PLPBP
(R18W +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
LOC113788277, PLPBP
(G49R +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, early-onset, vitamin B6-dependent
+1 more
GUncertain significance
PLPBP
(H275D +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
(T116I +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
(S81N +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
(P256fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
PLPBP
(V183G +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
+1 more
GUncertain significance
PLPBP
(R203W +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
GUncertain significance
PLPBP
(M1V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
PLPBP
(D72fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PLPBP
(R241Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PLPBP
(P87L +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
+1 more
GPathogenic/Likely pathogenic
PLPBP
Single nucleotide variant
(splice acceptor variant)
Epilepsy, early-onset, vitamin B6-dependent
+1 more
GPathogenic
PLPBP
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
PLPBP
(L175P +3 more)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, vitamin B6-dependent
GPathogenic
PLPBP
(S78* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination