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Links from MedGen

Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FECH
(I152M +2 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
GLikely pathogenic
FECH
(R115* +2 more)
Single nucleotide variant
(nonsense)
Protoporphyria, erythropoietic, 1
+1 more
GPathogenic/Likely pathogenic
FECH, LOC130062560
(A14fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
FECH
(C334Y +4 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
+1 more
GPathogenic/Likely pathogenic
FECH
(R102* +2 more)
Single nucleotide variant
(nonsense)
Protoporphyria, erythropoietic, 1
+1 more
GPathogenic
ABCB6
(A446T +1 more)
Single nucleotide variant
(missense variant)
Variegate porphyria
+5 more
GBenign/Likely benign
ABCB6
(G542S +1 more)
Single nucleotide variant
(missense variant)
Variegate porphyria
+4 more
GConflicting classifications of pathogenicity
FECH
Single nucleotide variant
(intron variant)
Protoporphyria, erythropoietic, 1
+1 more
GBenign
ABCB6
(R297Q +1 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
+3 more
GBenign
FECH
(Q61*)
Single nucleotide variant
(nonsense +1 more)
Protoporphyria, erythropoietic, 1
GLikely pathogenic
FECH
(W229fs +3 more)
Microsatellite
(frameshift variant)
FECH-related disorder
+2 more
GPathogenic
FECH
(K248R +3 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
+1 more
GUncertain significance
FECH
(G5R +2 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(intron variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(intron variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
(Q128fs +2 more)
Deletion
(frameshift variant)
Protoporphyria, erythropoietic, 1
GLikely pathogenic
FECH
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
FECH
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCB6
(R247C +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+2 more
GBenign
FECH
(P62R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FECH
(D274N +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
FECH
(V305F +3 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
+1 more
GLikely pathogenic
ABCB6
(T521S +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
+5 more
GBenign/Likely benign
FECH
(P334L +3 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
+1 more
GPathogenic/Likely pathogenic
FECH
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
FECH
(T47A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
FECH
(K68E +1 more)
Single nucleotide variant
(missense variant +1 more)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
(R96Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
FECH
(E121G +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
FECH
(G129R +2 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
(E172K +2 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
+1 more
GBenign/Likely benign
FECH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
FECH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FECH
(Q291R +3 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
GPathogenic/Likely pathogenic
FECH
Single nucleotide variant
(intron variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
FECH
Single nucleotide variant
(intron variant)
FECH-related disorder
+2 more
GBenign/Likely benign
FECH
(G312V +3 more)
Single nucleotide variant
(missense variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
+1 more
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Indel
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Insertion
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Insertion
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Microsatellite
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Insertion
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Insertion
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Duplication
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Duplication
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GUncertain significance
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GBenign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH, LOC129390998
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH, LOC129390998
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
FECH
Single nucleotide variant
(3 prime UTR variant)
Protoporphyria, erythropoietic, 1
GLikely benign
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