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Items: 1 to 100 of 431

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
AP4B1, AP4B1-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
AP4B1, AP4B1-AS1
(I569M +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(I734V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1-AS1, AP4B1
(S722T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(N721S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(T620M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(T618M +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
+1 more
GLikely benign
AP4B1, AP4B1-AS1
(I540fs +2 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(K543Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(E532V +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP4B1, AP4B1-AS1
(T527P +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(L694F +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(F693L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(T521I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(W679G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP4B1, AP4B1-AS1
(R509Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(A506S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(M671I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(M671V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
+1 more
GLikely benign
AP4B1, AP4B1-AS1
(L562I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(E483K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(R550W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(P479A +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(Q644R +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(Q545E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(A542D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(A473V +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
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(V472F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AP4B1, AP4B1-AS1
(T634S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(E632Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP4B1, AP4B1-AS1
(R624H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
AP4B1, AP4B1-AS1
(R525C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(R525G +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(N455S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(P454L +2 more)
Single nucleotide variant
(missense variant)
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
(L620P +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+2 more
GUncertain significance
AP4B1, AP4B1-AS1
(S615A +2 more)
Single nucleotide variant
(missense variant)
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
(R608K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(E607Q +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(splice acceptor variant)
Spastic paraplegia
GLikely pathogenic
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+3 more
GBenign
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(intron 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
(S592A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
AP4B1, AP4B1-AS1
(R415H +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
AP4B1, AP4B1-AS1
(R415C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(E582K +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(G481V +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
+3 more
GLikely benign
AP4B1, AP4B1-AS1
(I407S +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(I575V +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GBenign/Likely benign
AP4B1, AP4B1-AS1
(T574P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(A570T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(G568D +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(V398A +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(V398L +2 more)
Single nucleotide variant
(missense variant)
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
(synonymous variant)
Inborn genetic diseases
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
AP4B1-related disorder
GLikely benign
AP4B1, AP4B1-AS1
(F392C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(N386Y +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(P384fs +2 more)
Deletion
(frameshift variant)
Spastic paraplegia
GLikely pathogenic
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(P548L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(P380T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(L377S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1-AS1, AP4B1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(L544F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(L443F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
(S370fs +2 more)
Deletion
(frameshift variant)
Hereditary spastic paraplegia 47
GLikely pathogenic
AP4B1, AP4B1-AS1
(K369fs +2 more)
Insertion
(frameshift variant)
Spastic paraplegia
GLikely pathogenic
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
AP4B1, AP4B1-AS1
(S367I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GLikely benign
AP4B1, AP4B1-AS1
(R363W +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(K362E +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(V430I +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(I427V +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(V356A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
AP4B1, AP4B1-AS1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 47
GUncertain significance
AP4B1, AP4B1-AS1
(R520H +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+1 more
GUncertain significance
AP4B1, AP4B1-AS1
(R520C +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 47
+1 more
GConflicting classifications of pathogenicity
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