U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMBS
(R167W +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+1 more
GPathogenic
HMBS
(R173W +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+1 more
GPathogenic/Likely pathogenic
HMBS
(D161N +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+1 more
GConflicting classifications of pathogenicity
HMBS
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DPAGT1, HMBS
(F332V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination