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Links from MedGen

Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMBS
Single nucleotide variant
(splice acceptor variant)
Acute intermittent porphyria
GPathogenic
HMBS
(P120L +4 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GLikely pathogenic
HMBS
(Q187fs +1 more)
Duplication
(frameshift variant)
Acute intermittent porphyria
GLikely pathogenic
HMBS
Deletion
(intron variant)
Acute intermittent porphyria
GUncertain significance
HMBS
Deletion
(inframe_deletion)
Acute intermittent porphyria
GUncertain significance
HMBS
(K215fs +3 more)
Deletion
(frameshift variant)
Acute intermittent porphyria
GLikely pathogenic
HMBS
(R156P +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GPathogenic
HMBS
(Q177* +1 more)
Single nucleotide variant
(nonsense)
Acute intermittent porphyria
GLikely pathogenic
HMBS
Single nucleotide variant
(splice donor variant)
Acute intermittent porphyria
GPathogenic
HMBS
(D44Y +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GLikely pathogenic
HMBS
(E225K +1 more)
Single nucleotide variant
(missense variant +1 more)
Acute intermittent porphyria
+1 more
GUncertain significance
HMBS
(R298W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMBS
(R5C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HMBS
(T61S +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GUncertain significance
HMBS
(R178H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCB6
(G683S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCB6
(A446T +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
ABCB6
(G542S +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+4 more
GConflicting classifications of pathogenicity
ABCB6
(R297Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
HMBS
Single nucleotide variant
(splice acceptor variant)
Acute intermittent porphyria
GPathogenic
HMBS
Single nucleotide variant
(splice donor variant)
Acute intermittent porphyria
GPathogenic
HMBS
(R268* +3 more)
Single nucleotide variant
(nonsense)
Acute intermittent porphyria
+1 more
GPathogenic
HMBS
Single nucleotide variant
(splice acceptor variant)
HMBS-related disorder
+1 more
GPathogenic/Likely pathogenic
HMBS
(L75P +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GLikely pathogenic
HMBS
(K45N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMBS
(G5S)
Single nucleotide variant
(missense variant +1 more)
Acute intermittent porphyria
GUncertain significance
HMBS
Single nucleotide variant
(splice acceptor variant)
Acute intermittent porphyria
GPathogenic
HMBS
(A122P +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GLikely pathogenic
HMBS
(P292S +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HMBS
(A240S +3 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GUncertain significance
HMBS
(M295I +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMBS
Single nucleotide variant
(synonymous variant)
Acute intermittent porphyria
+1 more
GConflicting classifications of pathogenicity
HMBS
(H256Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Acute intermittent porphyria
+1 more
GUncertain significance
HMBS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HMBS
Single nucleotide variant
(synonymous variant +1 more)
Acute intermittent porphyria
GUncertain significance
HMBS
Single nucleotide variant
(3 prime UTR variant)
Acute intermittent porphyria
GUncertain significance
HMBS
(R308Q +3 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GUncertain significance
HMBS
(A314V +3 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
ABCB6
(R247C +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+2 more
GBenign
HMBS
(S45L +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+1 more
GBenign/Likely benign
HMBS
Single nucleotide variant
(intron variant)
Acute intermittent porphyria
GPathogenic
HMBS
(A219S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
HMBS
(S58fs +1 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
HMBS
(Q187H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HMBS
(Q235* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
HMBS
(R173W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HMBS
(R116Q +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+1 more
GConflicting classifications of pathogenicity
HMBS
(R26C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HMBS
(T241fs +3 more)
Duplication
(frameshift variant)
Acute intermittent porphyria
GLikely pathogenic
HMBS
(A303fs +3 more)
Deletion
(frameshift variant)
Acute intermittent porphyria
GPathogenic
HMBS
Deletion
(inframe_deletion +1 more)
Acute intermittent porphyria
GPathogenic
HMBS
(A9E)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HMBS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
HMBS
(R229H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HMBS
(I37L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMBS
(T18M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
ABCB6
(T521S +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+5 more
GBenign/Likely benign
PPOX
(I197T +3 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
Gnot provided
HMBS
(K215T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMBS
Deletion
(nonsense)
Acute intermittent porphyria
+5 more
GPathogenic
ACO2
Single nucleotide variant
(synonymous variant)
Optic atrophy 9
+6 more
GConflicting classifications of pathogenicity
HMBS
(D161N +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+1 more
GConflicting classifications of pathogenicity
DPAGT1, HMBS
Single nucleotide variant
(3 prime UTR variant)
DPAGT1-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
CPOX
(N272H)
Single nucleotide variant
(missense variant)
Hereditary coproporphyria
+1 more
GBenign
DPAGT1, HMBS
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
DPAGT1, HMBS
Single nucleotide variant
(3 prime UTR variant)
Congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
DPAGT1, HMBS
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
DPAGT1, HMBS
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
HMBS
Single nucleotide variant
(3 prime UTR variant)
Acute intermittent porphyria
GUncertain significance
HMBS
Single nucleotide variant
(3 prime UTR variant)
Acute intermittent porphyria
GUncertain significance
HMBS
Single nucleotide variant
(3 prime UTR variant)
Acute intermittent porphyria
GUncertain significance
HMBS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
HMBS
Single nucleotide variant
(synonymous variant)
HMBS-related disorder
+2 more
GBenign/Likely benign
HMBS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
HMBS
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
HMBS
(I205M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HMBS
Single nucleotide variant
(intron variant)
Acute intermittent porphyria
+1 more
GConflicting classifications of pathogenicity
HMBS
Single nucleotide variant
(intron variant)
HMBS-related disorder
+2 more
GConflicting classifications of pathogenicity
HMBS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
HMBS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HMBS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HMBS
Single nucleotide variant
(synonymous variant)
Acute intermittent porphyria
+1 more
GLikely benign
HMBS
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute intermittent porphyria
+2 more
GConflicting classifications of pathogenicity
HMBS
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute intermittent porphyria
GBenign
HMBS
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
HMBS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DPAGT1, HMBS
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
+3 more
GBenign/Likely benign
ABCB6
(R276W +1 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
+4 more
GBenign
ABCB6
(R192W)
Single nucleotide variant
(missense variant +1 more)
Acute intermittent porphyria
+4 more
GBenign/Likely benign
DPAGT1, HMBS
(F332V)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+4 more
GConflicting classifications of pathogenicity
HMBS
(R208Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HMBS
(E69V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HMBS
(R178C +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HMBS
(R304H +3 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+1 more
GConflicting classifications of pathogenicity
HMBS
(D342N +3 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+1 more
GBenign/Likely benign
DPAGT1, HMBS
(I393V)
Single nucleotide variant
(missense variant)
DPAGT1-congenital disorder of glycosylation
+4 more
GBenign
ABCB6
(R192Q)
Single nucleotide variant
(missense variant +1 more)
Protoporphyria, erythropoietic, 1
+4 more
GBenign/Likely benign
HMBS
(R149* +1 more)
Single nucleotide variant
(nonsense)
HMBS-related disorder
+2 more
GPathogenic
HMBS
(W283* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
HMBS
Insertion
Acute intermittent porphyria
GPathogenic
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