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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
ARNT2, ARNT2-DT
+38 more
Copy number gain
See cases
GUncertain significance
FAH, LOC112272621
Single nucleotide variant
(intron variant)
not provided
GBenign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
+1 more
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GPathogenic
FAH, LOC112272621
Single nucleotide variant
(splice acceptor variant)
Tyrosinemia type I
GPathogenic/Likely pathogenic
FAH, LOC112272621
Single nucleotide variant
(splice acceptor variant)
Tyrosinemia type I
GLikely pathogenic
FAH, LOC112272621
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
+1 more
GConflicting classifications of pathogenicity
FAH, LOC112272621
(I108V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FAH, LOC112272621
(S109fs)
Deletion
(frameshift variant)
Tyrosinemia type I
GPathogenic
LOC112272621, FAH
(Q110*)
Single nucleotide variant
(nonsense)
Tyrosinemia type I
GPathogenic/Likely pathogenic
FAH, LOC112272621
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
(T114M)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GUncertain significance
LOC112272621, FAH
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
(H116L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FAH, LOC112272621
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
(H116Q)
Single nucleotide variant
(missense variant)
Tyrosinemia type I
GUncertain significance
FAH, LOC112272621
(A119fs)
Deletion
(frameshift variant)
Tyrosinemia type I
GPathogenic
FAH, LOC112272621
Single nucleotide variant
(synonymous variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(synonymous variant)
FAH-related disorder
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(splice donor variant)
Tyrosinemia type I
GLikely pathogenic
FAH, LOC112272621
Single nucleotide variant
(splice donor variant)
Tyrosinemia type I
GLikely pathogenic
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
Tyrosinemia type I
GLikely benign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
FAH, LOC112272621
Single nucleotide variant
(intron variant)
not provided
GBenign
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