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Items: 1 to 100 of 778

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADSL
Deletion
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
Deletion
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
Deletion
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
(D32Y)
Single nucleotide variant
(missense variant +2 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +2 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
(R239H +2 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +2 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
(R61fs +1 more)
Deletion
(frameshift variant +2 more)
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(synonymous variant +2 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +2 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(non-coding transcript variant +1 more)
Adenylosuccinate lyase deficiency
GLikely pathogenic
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
(T386fs +2 more)
Duplication
(frameshift variant +2 more)
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
Single nucleotide variant
(synonymous variant +2 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Duplication
(intron variant)
Adenylosuccinate lyase deficiency
GBenign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
(Q439* +2 more)
Single nucleotide variant
(nonsense +2 more)
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
(R126G +2 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Deletion
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(synonymous variant +2 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
(D128E +2 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(splice donor variant)
Adenylosuccinate lyase deficiency
GLikely pathogenic
ACO2, ADSL
+132 more
Duplication
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Deletion
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Duplication
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Deletion
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(synonymous variant +2 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
(S193N +2 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
(R83H +1 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Deletion
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
(V365A +2 more)
Single nucleotide variant
(missense variant +2 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(intron variant)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(5 prime UTR variant +1 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
(synonymous variant +1 more)
Adenylosuccinate lyase deficiency
GLikely benign
ADSL
(R107C +2 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
(R85* +2 more)
Single nucleotide variant
(nonsense +1 more)
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
(A46T +1 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
(D204H +2 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GPathogenic
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
(D59N)
Single nucleotide variant
(missense variant +2 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
(M12T +1 more)
Single nucleotide variant
(missense variant +1 more)
Adenylosuccinate lyase deficiency
GUncertain significance
ADSL
Single nucleotide variant
Adenylosuccinate lyase deficiency
GUncertain significance
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