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Links from Gene

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH3A2
Deletion
not provided
GLikely pathogenic
ALDH3A2
(A108fs +1 more)
Deletion
(frameshift variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
Single nucleotide variant
(splice donor variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(W257* +1 more)
Single nucleotide variant
(nonsense +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(P114L)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2, LOC130060466
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALDH3A2, LOC130060466
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALDH3A2
(W259* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(C214fs +1 more)
Deletion
(frameshift variant)
Sjögren-Larsson syndrome
GPathogenic
ALDH3A2, LOC130060467
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ALDH3A2
(T118A)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2, LOC130060466
Single nucleotide variant
(5 prime UTR variant +1 more)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Copy number loss
See cases
GPathogenic
ALDH3A2
(A301P +1 more)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
ALDH3A2
(F109fs +1 more)
Deletion
(frameshift variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
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