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Links from MedGen

Items: 1 to 100 of 802

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASL
Deletion
Argininosuccinate lyase deficiency
GPathogenic
ASL
Deletion
Argininosuccinate lyase deficiency
GPathogenic
ASL
Deletion
Argininosuccinate lyase deficiency
GPathogenic
ASL
(I199fs +1 more)
Duplication
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(splice acceptor variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(K69R)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(splice acceptor variant +1 more)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL, LOC129998526
(E4fs)
Duplication
(frameshift variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(L234F +1 more)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(P182R +1 more)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(T90K)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
Deletion
(splice donor variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
(K289R +1 more)
Single nucleotide variant
(missense variant +1 more)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
(D115Y)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous 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
(R187P +1 more)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Deletion
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous 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
(D367fs +2 more)
Duplication
(frameshift variant)
Argininosuccinate lyase deficiency
GPathogenic
ASL
Single nucleotide variant
(synonymous 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
Microsatellite
(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
(synonymous 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
Deletion
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous 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
Deletion
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(D265N +1 more)
Single nucleotide variant
(missense variant)
Argininosuccinate lyase deficiency
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
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL, LOC129998526
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous 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
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Deletion
(intron variant)
Argininosuccinate lyase deficiency
GUncertain significance
ASL
Duplication
(intron variant)
Argininosuccinate lyase deficiency
GBenign
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
Deletion
(intron variant)
Argininosuccinate lyase deficiency
GBenign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(splice donor variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL, LOC129998526
Single nucleotide variant
(intron 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, LOC129998526
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
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant +1 more)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous variant +1 more)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(synonymous 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
Duplication
(intron variant)
Argininosuccinate lyase deficiency
GBenign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
Single nucleotide variant
(intron variant)
Argininosuccinate lyase deficiency
GLikely benign
ASL
(Y295* +1 more)
Single nucleotide variant
(nonsense +1 more)
Argininosuccinate lyase deficiency
GPathogenic
ASL
Single nucleotide variant
(splice acceptor variant)
Argininosuccinate lyase deficiency
GPathogenic
ASL
Single nucleotide variant
(splice acceptor variant)
Argininosuccinate lyase deficiency
GLikely pathogenic
ASL
Single nucleotide variant
(synonymous variant)
Argininosuccinate lyase deficiency
GLikely benign
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