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Links from MedGen

Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALAD
Single nucleotide variant
(splice acceptor variant)
Porphobilinogen synthase deficiency
GLikely pathogenic
ALAD
(G131R +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
(R141Q +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
(G292R +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
+2 more
GUncertain significance
ALAD
Single nucleotide variant
(synonymous variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
(R223Q +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(intron variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
(Y249C +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALAD
Single nucleotide variant
(synonymous variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
(M296V +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(5 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GBenign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
(V73I +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
(A85T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALAD
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ALAD
(D231N +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
+1 more
GUncertain significance
ALAD
(R174C +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
(R262W +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
+1 more
GUncertain significance
ALAD
(G10A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALAD, LOC130002419
Single nucleotide variant
Porphobilinogen synthase deficiency
GUncertain significance
ALAD, LOC130002419
Single nucleotide variant
Porphobilinogen synthase deficiency
GLikely benign
ALAD, LOC130002419
Insertion
Porphobilinogen synthase deficiency
GUncertain significance
ALAD, LOC130002419
Single nucleotide variant
Porphobilinogen synthase deficiency
GUncertain significance
ALAD, LOC130002419
Insertion
Porphobilinogen synthase deficiency
GUncertain significance
ALAD, LOC130002419
Single nucleotide variant
Porphobilinogen synthase deficiency
GLikely benign
ALAD, LOC130002419
Duplication
Porphobilinogen synthase deficiency
GUncertain significance
ALAD, LOC130002419
Duplication
Porphobilinogen synthase deficiency
GLikely benign
ALAD, LOC130002419
Duplication
Porphobilinogen synthase deficiency
GLikely benign
ALAD, LOC130002419
Single nucleotide variant
(5 prime UTR variant)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
Single nucleotide variant
(intron variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(5 prime UTR variant +1 more)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
(M1V +1 more)
Single nucleotide variant
(missense variant +2 more)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(5 prime UTR variant +1 more)
Porphobilinogen synthase deficiency
+1 more
GBenign/Likely benign
ALAD
(V6I +1 more)
Single nucleotide variant
(missense variant +1 more)
Porphobilinogen synthase deficiency
+1 more
GConflicting classifications of pathogenicity
ALAD
Single nucleotide variant
(synonymous variant +1 more)
Porphobilinogen synthase deficiency
+1 more
GBenign
ALAD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ALAD
Single nucleotide variant
(synonymous variant)
ALAD-related disorder
+2 more
GConflicting classifications of pathogenicity
ALAD
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALAD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ALAD
(R147C +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ALAD
Single nucleotide variant
(synonymous variant)
Porphobilinogen synthase deficiency
+1 more
GConflicting classifications of pathogenicity
ALAD
(R174H +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALAD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALAD
(V242I +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
+1 more
GUncertain significance
ALAD
Single nucleotide variant
(synonymous variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALAD
(I314V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Deletion
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GBenign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GBenign
ALAD
Duplication
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GBenign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GBenign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Deletion
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GLikely benign
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Deletion
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GUncertain significance
ALAD
Single nucleotide variant
(3 prime UTR variant)
Porphobilinogen synthase deficiency
GBenign
ALAD
Single nucleotide variant
(intron variant)
Porphobilinogen synthase deficiency
GPathogenic
ALAD
Single nucleotide variant
(intron variant)
Porphobilinogen synthase deficiency
GPathogenic
ALAD
(A274T +2 more)
Single nucleotide variant
(missense variant)
Porphobilinogen synthase deficiency
GPathogenic
ALAD
(R240W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALAD
(K59N +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ALAD
(V275M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALAD
(G133R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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