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Items: 1 to 100 of 294

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4B1, DCLRE1B
+1 more
(C18fs)
Microsatellite
(frameshift variant +1 more)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1
(N149* +1 more)
Duplication
(nonsense +1 more)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1
(T59S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, DCLRE1B
+1 more
(K14R)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(L343fs +2 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Deletion
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely pathogenic
AP4B1, AP4B1-AS1
(S370fs +2 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 47
GLikely pathogenic
AP4B1
(V68I)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(C257fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely pathogenic
AP4B1, AP4B1-AS1
(K543Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
CSDE1, AP4B1
+28 more
Deletion
Hereditary spastic paraplegia 47
GPathogenic
AP4B1, LOC129931235
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(I540fs +2 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
(V177del +1 more)
Deletion
(inframe_deletion +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(N245H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(L92M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(I569M +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(V472G +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
(L187M +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, LOC129931235
(R38T)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(I407S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(G444D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(V430I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, LOC129931235
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
(R107Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
(I75T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
(H102R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1-AS1, AP4B1
(I427V +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1-AS1, AP4B1
(Q315* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, LOC129931235
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(A570T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
(D61V)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(T634S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(C125fs +2 more)
Microsatellite
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1, AP4B1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
Single nucleotide variant
(intron variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
(Q171R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(P479A +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(R133C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1-AS1, AP4B1
(R415C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(K362E +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(W114C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, LOC129931235
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(R301H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(A428T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(Q127H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(P320H +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(N721S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(L106F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
AP4B1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
(D131fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1
(P77S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(F318L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(I203fs +2 more)
Insertion
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1, AP4B1-AS1
Insertion
(nonsense)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1, AP4B1-AS1
(Q226P +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, LOC129931235
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
(S108I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(R314C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, DCLRE1B
+1 more
(L13M)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
+1 more
GLikely benign
AP4B1, AP4B1-AS1
(T527P +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1
(N149Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(I272fs +2 more)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1, AP4B1-AS1
(V180M +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
+2 more
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GBenign
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