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Links from MedGen

Items: 1 to 100 of 665

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
(F72I)
Single nucleotide variant
(missense variant)
Citrullinemia
GLikely pathogenic
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Deletion
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Deletion
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1, LOC110121061
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Deletion
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Deletion
(intron variant)
Citrullinemia
GLikely benign
ASS1
Microsatellite
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
(M377T)
Single nucleotide variant
(missense variant)
Citrullinemia
GLikely pathogenic
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(splice donor variant)
Citrullinemia
GLikely pathogenic
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
(Q211*)
Single nucleotide variant
(nonsense)
Citrullinemia
GPathogenic
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Duplication
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
LOC110121061, ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
(E67*)
Single nucleotide variant
(nonsense)
Citrullinemia
GPathogenic
ASS1
(D124Y)
Single nucleotide variant
(missense variant)
Citrullinemia
GUncertain significance
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(splice donor variant)
Citrullinemia
GPathogenic
ASS1, LOC110121061
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Deletion
(intron variant)
Citrullinemia
GBenign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(synonymous variant)
Citrullinemia
GLikely benign
ASS1
Single nucleotide variant
(intron variant)
Citrullinemia
GLikely benign
ASS1
(Q201*)
Single nucleotide variant
(nonsense)
Citrullinemia
GPathogenic
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