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Links from Gene

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4B1, DCLRE1B
+1 more
(M1fs)
Deletion
(frameshift variant +3 more)
not provided
GUncertain significance
DCLRE1B, LOC129931235
+1 more
(C18fs)
Microsatellite
(frameshift variant +1 more)
Hereditary spastic paraplegia 47
GPathogenic
AP4B1, DCLRE1B
+1 more
(K14R)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, DCLRE1B
+1 more
(L13P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AP4B1, DCLRE1B
+1 more
Single nucleotide variant
(synonymous 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, DCLRE1B
+1 more
(P20L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AP4B1, DCLRE1B
+1 more
(Q23K)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, DCLRE1B
+1 more
(N31H)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, DCLRE1B
+1 more
(M1I)
Single nucleotide variant
(missense variant +3 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, DCLRE1B
+1 more
(C18G)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, DCLRE1B
+1 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
LOC129931235, AP4B1
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
AP4B1, DCLRE1B
+1 more
(G5S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, DCLRE1B
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
DCLRE1B, LOC129931235
+1 more
(N19S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 47
GUncertain significance
DCLRE1B, LOC129931235
+1 more
(M1fs)
Indel
(frameshift variant +3 more)
Hereditary spastic paraplegia 47
+2 more
GUncertain significance
LOC129931235, DCLRE1B
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
AP4B1, DCLRE1B
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
LOC129931235, AP4B1
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign
AP4B1, DCLRE1B
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
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