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Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
MIR4503, MIR624
+399 more
Copy number loss
See cases
GPathogenic
AKAP6, AP4S1
+73 more
Copy number loss
See cases
GPathogenic
AKAP6, AP4S1
+179 more
Copy number loss
See cases
GPathogenic
INSM2, KLHL28
+237 more
Copy number gain
See cases
GPathogenic
LOC126861917, LOC126861918
+225 more
Copy number loss
See cases
GPathogenic
ARHGAP5-AS1, DTD2
+35 more
Deletion
Mitochondrial complex I deficiency
GUncertain significance
AP4S1, STRN3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
AP4S1, LOC130055445
+1 more
(R78L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AP4S1, LOC130055445
+1 more
(L69V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AP4S1, LOC130055445
+1 more
(Q61R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AP4S1, LOC130055445
+1 more
(P60R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AP4S1, LOC130055445
+1 more
(P44S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AP4S1, LOC130055445
+1 more
(G36R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AP4S1, LOC130055445
+1 more
(G33E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AP4S1, LOC130055445
+1 more
(G29S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP4S1
Deletion
Spastic paraplegia
GPathogenic
AP4S1
(M1T)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
+1 more
GLikely pathogenic
AP4S1
(F4fs)
Duplication
(frameshift variant)
Spastic paraplegia
GPathogenic
AP4S1
(L6P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
AP4S1
(M7I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP4S1
(K10R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
AP4S1
(G12R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
(R15*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic
AP4S1
(R15Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia 52, autosomal recessive
GUncertain significance
AP4S1
(S17fs)
Duplication
(frameshift variant)
Spastic paraplegia
GLikely pathogenic
AP4S1
(V23M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4S1
(D24N)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
(R28C)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4S1
(R28H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
AP4S1
(T29R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP4S1
(T33R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4S1
(E34fs)
Deletion
(frameshift variant)
Spastic paraplegia
GPathogenic
AP4S1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AP4S1
(R42*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
AP4S1
(R42Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
(E45K)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
AP4S1
Microsatellite
(splice donor variant)
Neurodevelopmental disorder
+5 more
GPathogenic
AP4S1
Single nucleotide variant
(splice donor variant)
Spastic paraplegia
+1 more
GLikely pathogenic
AP4S1
Single nucleotide variant
(splice donor variant)
Spastic paraplegia 52, autosomal recessive
GLikely pathogenic
AP4S1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia 52, autosomal recessive
+1 more
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP4S1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
AP4S1
Single nucleotide variant
(splice acceptor variant)
Spastic paraplegia 52, autosomal recessive
GLikely pathogenic
AP4S1
(S48fs)
Microsatellite
(frameshift variant)
Spastic paraplegia
GPathogenic
AP4S1
(F49fs)
Deletion
(frameshift variant)
not provided
GPathogenic
AP4S1
(E51fs)
Deletion
(frameshift variant)
AP4S1-related disorder
GLikely pathogenic
AP4S1
(E51G)
Single nucleotide variant
(missense variant)
Spastic paraplegia 52, autosomal recessive
GUncertain significance
AP4S1
(Y52H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GBenign
AP4S1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
AP4S1
(Y59H)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
(R60Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4S1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
AP4S1
(I67V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4S1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
AP4S1
(E75D)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GUncertain significance
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
AP4S1
Duplication
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP4S1
Deletion
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
AP4S1
Single nucleotide variant
(intron variant)
Spastic paraplegia
GLikely benign
AP4S1
Single nucleotide variant
(splice acceptor variant)
Spastic paraplegia
GLikely pathogenic
AP4S1
Deletion
Spastic paraplegia 52, autosomal recessive
GUncertain significance
AP4S1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
AP4S1
(E77K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AP4S1
(E77*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
AP4S1
(I80fs)
Insertion
(frameshift variant)
Spastic paraplegia
GLikely pathogenic
AP4S1
(V90I)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
Single nucleotide variant
(synonymous variant)
Spastic paraplegia
GLikely benign
AP4S1
(R97*)
Single nucleotide variant
(nonsense)
Spastic paraplegia 52, autosomal recessive
+3 more
GPathogenic/Likely pathogenic
AP4S1
(R97L)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
(R97Q)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
AP4S1
Single nucleotide variant
(splice donor variant)
Spastic paraplegia
GPathogenic
AP4S1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
AP4S1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
AP4S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP4S1
Duplication
(intron variant)
not provided
GBenign
AP4S1
Deletion
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GBenign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AP4S1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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