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Items: 1 to 100 of 739

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
ASB4, ASNS
+61 more
Copy number loss
See cases
GPathogenic
ASNS, CZ1P-ASNS
+3 more
Copy number loss
See cases
GUncertain significance
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(K473* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(T530M +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(R467L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
ASNS, CZ1P-ASNS
(R467H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
+2 more
GPathogenic/Likely pathogenic
ASNS, CZ1P-ASNS
(R550C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ASNS, CZ1P-ASNS
(D546E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(A523T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(N460S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(W520R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(K519E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(P539L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CZ1P-ASNS, ASNS
(M538I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ASNS, CZ1P-ASNS
(W537S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(W454* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
CZ1P-ASNS, ASNS
(W454G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(D448E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GConflicting classifications of pathogenicity
ASNS, CZ1P-ASNS
(D448G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ASNS, CZ1P-ASNS
(R446Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(G507fs +2 more)
Duplication
(non-coding transcript variant +1 more)
not provided
GPathogenic
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(Y505* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
GLikely pathogenic
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(R441C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
ASNS, CZ1P-ASNS
(R441S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
GUncertain significance
ASNS, CZ1P-ASNS
(V521G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(R519H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
ASNS, CZ1P-ASNS
(R436C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
+1 more
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(T429N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(T491fs +2 more)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(Q503H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(A419V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(M476I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(M414T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(D411fs +2 more)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Deletion
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GBenign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GBenign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
Single nucleotide variant
(splice donor variant)
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
GPathogenic
ASNS, CZ1P-ASNS
(Q492fs +2 more)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
ASNS, CZ1P-ASNS
(Q471* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
ASNS, CZ1P-ASNS
(H408R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(V489F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(V489I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ASNS, CZ1P-ASNS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
ASNS, CZ1P-ASNS
Insertion
(non-coding transcript variant +2 more)
not provided
GPathogenic
ASNS, CZ1P-ASNS
(E404Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ASNS, CZ1P-ASNS
(Q486* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ASNS, CZ1P-ASNS
(S480F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ASNS, CZ1P-ASNS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
Display optionsSort by LocationDownload
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