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Items: 1 to 100 of 879

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
ASL, CCT6A
+228 more
Copy number gain
See cases
GPathogenic
ASL, CICP24
+113 more
Copy number gain
See cases
GPathogenic
ABHD11, ABHD11-AS1
+350 more
Copy number loss
See cases
GPathogenic
ASL, CICP24
+90 more
Copy number gain
See cases
GLikely pathogenic
ABHD11, ABHD11-AS1
+349 more
Copy number gain
See cases
GPathogenic
ASL, AUTS2
+157 more
Copy number loss
See cases
GPathogenic
ASL, CRCP
+34 more
Copy number gain
See cases
GLikely benign
ASL, LOC129998525
Single nucleotide variant
(5 prime UTR variant +1 more)
Argininosuccinate lyase deficiency
+1 more
GConflicting classifications of pathogenicity
ASL, LOC129998525
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
ASL
Single nucleotide variant
(5 prime UTR variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ASL, LOC129998526
Deletion
Argininosuccinate lyase deficiency
GPathogenic
ASL
Single nucleotide variant
(5 prime UTR variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(A2D)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
+1 more
GUncertain significance
ASL, LOC129998526
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL, LOC129998526
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL, LOC129998526
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL, LOC129998526
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
LOC129998526, ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL, LOC129998526
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL, LOC129998526
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL, LOC129998526
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ASL, LOC129998526
Single nucleotide variant
(intron variant)
not provided
GBenign
ASL
Deletion
(intron variant)
not provided
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(splice acceptor variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(splice acceptor variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(G10fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(G10D)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(R12W)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(R12L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ASL
(R12Q)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
+3 more
GPathogenic/Likely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(D18N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASL
(I20fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(I20fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GPathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(M21T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GConflicting classifications of pathogenicity
ASL
(A26T)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(A26V)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(I28T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ASL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ASL
(D31N)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GPathogenic/Likely pathogenic
ASL
(R32fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GPathogenic
ASL
(R32W)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(R32Q)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(H33Q)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(H33Q)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
+1 more
GConflicting classifications of pathogenicity
ASL
(W35*)
Single nucleotide variant
(nonsense)
Argininosuccinate lyase deficiency
GPathogenic
ASL
(E36*)
Single nucleotide variant
(nonsense)
Argininosuccinate lyase deficiency
GPathogenic
ASL
(D38fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GPathogenic/Likely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(V39F)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(Q40fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(Q40fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(G41D)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GPathogenic
ASL
(A44G)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(Y45N)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(G48fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(L49M)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(A52V)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(L54fs)
Deletion
(frameshift variant)
Argininosuccinate lyase deficiency
GPathogenic
ASL
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
+2 more
GBenign/Likely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(E59K)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
+1 more
GPathogenic/Likely pathogenic
ASL
(E59V)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
+1 more
GUncertain significance
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
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