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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADK
(Q232* +4 more)
Single nucleotide variant
(nonsense +1 more)
Adenosine kinase deficiency
GLikely pathogenic
ADK, LOC102723439
(S180fs +2 more)
Microsatellite
(frameshift variant +1 more)
Adenosine kinase deficiency
GLikely pathogenic
ADK
(V108A +2 more)
Single nucleotide variant
(missense variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADK
(N7I +1 more)
Single nucleotide variant
(missense variant)
Adenosine kinase deficiency
GUncertain significance
ADK
(S3T)
Single nucleotide variant
(missense variant +1 more)
Adenosine kinase deficiency
+1 more
GUncertain significance
ADK
Single nucleotide variant
(5 prime UTR variant +1 more)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(intron variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(intron variant)
Adenosine kinase deficiency
GLikely benign
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GUncertain significance
ADK
(K130T +2 more)
Single nucleotide variant
(missense variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADK
(A327V +4 more)
Single nucleotide variant
(missense variant +1 more)
Adenosine kinase deficiency
GLikely pathogenic
ADK
Deletion
(intron variant)
not provided
+1 more
GBenign
ADK
(N272fs +4 more)
Duplication
(frameshift variant +1 more)
Adenosine kinase deficiency
GLikely pathogenic
ADK
(L291P)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
ADK
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GLikely benign
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GBenign
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GLikely benign
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(3 prime UTR variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ADK
Single nucleotide variant
(intron variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ADK, LOC102723439
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ADK, LOC102723439
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
ADK
Single nucleotide variant
(synonymous variant)
Adenosine kinase deficiency
GUncertain significance
ADK
(I70V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADK
(K57E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADK
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
ADK
Single nucleotide variant
(5 prime UTR variant +1 more)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(intron variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(intron variant)
Adenosine kinase deficiency
GUncertain significance
ADK
Single nucleotide variant
(intron variant)
Adenosine kinase deficiency
GLikely benign
ADK
Single nucleotide variant
(intron variant)
Adenosine kinase deficiency
GUncertain significance
ADK
(F247L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADK
(G13E +1 more)
Single nucleotide variant
(missense variant)
Adenosine kinase deficiency
GPathogenic
ADK, LOC102723439
(D218A +2 more)
Single nucleotide variant
(missense variant +1 more)
Adenosine kinase deficiency
GPathogenic
ADK
(A301E +5 more)
Single nucleotide variant
(missense variant)
Adenosine kinase deficiency
GPathogenic
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