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Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PEX10
(R331Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder, complementation group 7
+2 more
GConflicting classifications of pathogenicity
PEX10
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PEX10
(A155T +4 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GUncertain significance
PEX10
(W150* +4 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(W150* +4 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GPathogenic
PEX10
(P162fs +4 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GPathogenic/Likely pathogenic
PEX10
(H310D +4 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+2 more
GConflicting classifications of pathogenicity
PEX10
(H138fs +4 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(E299* +4 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder
+3 more
GPathogenic/Likely pathogenic
PEX10
(L297P +4 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GConflicting classifications of pathogenicity
PEX10
(L272fs +4 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+4 more
GPathogenic
PEX10
(L128fs +4 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder 6A (Zellweger)
+1 more
GLikely pathogenic
PEX10
Single nucleotide variant
(splice donor variant)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GLikely pathogenic
PEX10
(H252fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
PEX10
(W105* +4 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GPathogenic/Likely pathogenic
PEX10
(R264* +4 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GPathogenic
PEX10
(L236fs +4 more)
Duplication
(frameshift variant +1 more)
not provided
+4 more
GPathogenic
PEX10
(Q110* +4 more)
Single nucleotide variant
(nonsense +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GPathogenic/Likely pathogenic
PEX10
Deletion
(nonsense +1 more)
Peroxisome biogenesis disorder, complementation group 7
+2 more
GPathogenic/Likely pathogenic
PEX10
(V222fs +4 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(A214fs +2 more)
Duplication
(frameshift variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(L208fs +2 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+2 more
GPathogenic/Likely pathogenic
PEX10
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic
PEX10
(Y200* +1 more)
Single nucleotide variant
(nonsense)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(I198fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(T196fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+1 more
GLikely pathogenic
PEX10
(R50K +1 more)
Single nucleotide variant
(missense variant +1 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GUncertain significance
PEX10
(I184fs +1 more)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GConflicting classifications of pathogenicity
PEX10
(V166fs +1 more)
Deletion
(frameshift variant +1 more)
Spastic ataxia
+2 more
GPathogenic/Likely pathogenic
PEX10
(R143fs)
Microsatellite
(frameshift variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(R142fs)
Duplication
(frameshift variant +2 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GPathogenic/Likely pathogenic
PEX10
(G140fs)
Duplication
(frameshift variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+1 more
GPathogenic/Likely pathogenic
PEX10
(R125*)
Single nucleotide variant
(nonsense +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GPathogenic/Likely pathogenic
PEX10
(D122fs)
Deletion
(frameshift variant +2 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GPathogenic/Likely pathogenic
PEX10
(E116fs)
Indel
(frameshift variant +2 more)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX10
(L113fs)
Deletion
(frameshift variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PEX10
(L113fs)
Deletion
(frameshift variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GPathogenic
PEX10
(H99fs)
Deletion
(frameshift variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+2 more
GPathogenic/Likely pathogenic
PEX10
(T97I)
Single nucleotide variant
(missense variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GUncertain significance
PEX10
(R83fs)
Deletion
(frameshift variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(Y73*)
Single nucleotide variant
(nonsense +2 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GPathogenic/Likely pathogenic
PEX10
(Q67R)
Single nucleotide variant
(missense variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(S53fs)
Microsatellite
(frameshift variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
PEX10
(E48fs)
Duplication
(frameshift variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
(W42*)
Single nucleotide variant
(nonsense +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
GLikely pathogenic
PEX10
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder, complementation group 7
+2 more
GLikely pathogenic
PEX10
(A5fs)
Indel
(frameshift variant +1 more)
Peroxisome biogenesis disorder
+1 more
GPathogenic/Likely pathogenic
PEX10
(E10fs)
Duplication
(frameshift variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GPathogenic
PEX10
(P3fs)
Deletion
(frameshift variant +1 more)
Peroxisome biogenesis disorder, complementation group 7
+1 more
GPathogenic/Likely pathogenic
PEX10
(A2fs)
Deletion
(frameshift variant +2 more)
Peroxisome biogenesis disorder 6A (Zellweger)
+3 more
GPathogenic
CFAP74, CPTP
+62 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
MEGF6, MIB2
+71 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ANKRD65, ARHGEF16
+97 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ACTRT2, AJAP1
+41 more
Copy number gain
not provided
GPathogenic
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