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Links from MedGen

Items: 1 to 100 of 498

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
(Y169H +2 more)
Single nucleotide variant
(missense variant +2 more)
Arginase deficiency
GUncertain significance
ARG1, MED23
Deletion
(nonsense +2 more)
Arginase deficiency
GPathogenic
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +1 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Deletion
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
(S117fs +1 more)
Deletion
(frameshift variant +2 more)
Arginase deficiency
GPathogenic
ARG1, MED23
(Q46E)
Single nucleotide variant
(missense variant +1 more)
Arginase deficiency
GLikely benign
ARG1
Single nucleotide variant
(synonymous variant +1 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1
Single nucleotide variant
(non-coding transcript variant +1 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(non-coding transcript variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
(G162fs +1 more)
Duplication
(frameshift variant +2 more)
Arginase deficiency
GPathogenic
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
(R230G +2 more)
Single nucleotide variant
(missense variant +2 more)
Arginase deficiency
GUncertain significance
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +1 more)
Arginase deficiency
GLikely benign
ARG1, MED23
(E52*)
Single nucleotide variant
(nonsense +2 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
Single nucleotide variant
(splice acceptor variant +1 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Deletion
(intron variant)
Arginase deficiency
GBenign
MED23, ARG1
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Duplication
(splice acceptor variant +1 more)
Arginase deficiency
GUncertain significance
ARG1, MED23
Single nucleotide variant
(intron variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Deletion
(splice donor variant +1 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
(L49*)
Single nucleotide variant
(intron variant +1 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1
Single nucleotide variant
(synonymous variant +1 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Deletion
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
(F155fs +1 more)
Duplication
(frameshift variant +2 more)
Arginase deficiency
GPathogenic
ARG1
Single nucleotide variant
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Microsatellite
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1, MED23
Single nucleotide variant
(synonymous variant +2 more)
Arginase deficiency
GLikely benign
ARG1
Duplication
(intron variant)
Arginase deficiency
GLikely benign
ARG1, MED23
(E192fs +2 more)
Deletion
(frameshift variant +2 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
Single nucleotide variant
(splice donor variant +1 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(D152fs +2 more)
Duplication
(frameshift variant +2 more)
Arginase deficiency
GPathogenic/Likely pathogenic
ARG1, MED23
(D149H +2 more)
Single nucleotide variant
(missense variant +2 more)
Arginase deficiency
GPathogenic
ARG1, MED23
(E117fs +2 more)
Deletion
(frameshift variant +2 more)
Arginase deficiency
GPathogenic
ARG1, MED23
(I142fs +2 more)
Duplication
(frameshift variant +2 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(D117fs +1 more)
Duplication
(non-coding transcript variant +2 more)
Arginase deficiency
GPathogenic/Likely pathogenic
ARG1, MED23
(V24fs)
Duplication
(frameshift variant +1 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(G107fs +1 more)
Deletion
(frameshift variant +2 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
Single nucleotide variant
(splice acceptor variant +1 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(M127fs +2 more)
Deletion
(frameshift variant +2 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(E78fs +1 more)
Duplication
(frameshift variant +2 more)
Arginase deficiency
GPathogenic
ARG1, MED23
Single nucleotide variant
(splice donor variant +1 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(I50fs)
Deletion
(frameshift variant +2 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(G187fs +2 more)
Deletion
(frameshift variant +2 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(A125V +1 more)
Single nucleotide variant
(missense variant +2 more)
Arginase deficiency
GLikely pathogenic
ARG1, MED23
(W164* +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Arginase deficiency
GPathogenic
ARG1, MED23
(G35S)
Single nucleotide variant
(missense variant +1 more)
Arginase deficiency
GUncertain significance
ARG1, MED23
Duplication
Arginase deficiency
GUncertain significance
MED23, ARG1
Deletion
Arginase deficiency
GPathogenic
ARG1, MED23
(I105T +1 more)
Single nucleotide variant
(missense variant +2 more)
Arginase deficiency
GUncertain significance
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