U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
(A246fs)
Indel
(frameshift variant)
not provided
GLikely pathogenic
PAH
(L385fs)
Duplication
(frameshift variant)
Phenylketonuria
GPathogenic
PAH
(K42N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAH
(S303F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ASCL1, PAH
Deletion
(inframe_deletion +1 more)
ASCL1-related disorder
GLikely benign
ASCL1, PAH
Microsatellite
(inframe_insertion +1 more)
ASCL1-related disorder
GUncertain significance
PAH
(H264Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAH
(A322V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ASCL1, PAH
(Q17H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PAH
(Q232L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAH
(L308I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAH
(K398E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAH
(R53G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAH
(N167S)
Indel
(missense variant)
not specified
GUncertain significance
PAH
(A322S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PAH
Deletion
Phenylketonuria
GPathogenic
PAH
Deletion
Phenylketonuria
GPathogenic
PAH
Deletion
Phenylketonuria
GPathogenic
PAH
Deletion
Phenylketonuria
GPathogenic
PAH
Deletion
Phenylketonuria
GPathogenic
ASCL1, PAH
Deletion
Phenylketonuria
GPathogenic
PAH
(N393fs)
Deletion
(frameshift variant)
Phenylketonuria
GLikely pathogenic
PAH
(E44*)
Single nucleotide variant
(nonsense)
Phenylketonuria
GLikely pathogenic
PAH
(L249fs)
Deletion
(frameshift variant)
Phenylketonuria
GLikely pathogenic
PAH
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
PAH
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
PAH
(Q449H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PAH
(E397*)
Single nucleotide variant
(nonsense)
Phenylketonuria
GPathogenic
ASCL1, PAH
Microsatellite
(inframe_insertion +1 more)
ASCL1-related disorder
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
LOC126861615, PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
LOC126861615, PAH
Duplication
(intron variant)
Phenylketonuria
GBenign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
(P89T)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
(P279T)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Deletion
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
LOC126861615, PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
(D84N)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Deletion
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
(H271N)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
(T238I)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(synonymous variant)
Phenylketonuria
GLikely benign
PAH
Duplication
(nonsense)
Phenylketonuria
GPathogenic
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
PAH
Single nucleotide variant
(intron variant)
Phenylketonuria
GLikely benign
Format
Items per page
Sort by
Choose Destination