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Links from MedGen

Items: 1 to 100 of 212

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
Single nucleotide variant
(intron variant)
Sjögren-Larsson syndrome
+1 more
GLikely pathogenic
ALDH3A2
Single nucleotide variant
(splice acceptor variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(P114L)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(E138D +1 more)
Single nucleotide variant
(missense variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
(L262fs +1 more)
Duplication
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
Single nucleotide variant
(splice donor variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(K85fs)
Deletion
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(H173fs +1 more)
Deletion
(frameshift variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(V149fs +1 more)
Deletion
(frameshift variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(S140fs)
Deletion
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(C241* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(K86fs)
Indel
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(K218fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALDH3A2
(K175fs)
Deletion
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(E112* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(P10fs +1 more)
Deletion
(frameshift variant)
Sjögren-Larsson syndrome
GPathogenic
ALDH3A2
(R508fs)
Microsatellite
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
(E14A +1 more)
Single nucleotide variant
(missense variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
(R230H +1 more)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
+1 more
GPathogenic/Likely pathogenic
ALDH3A2
(F22S)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
+1 more
GUncertain significance
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
(S203fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
ALDH3A2
Deletion
(intron variant)
Sjögren-Larsson syndrome
+1 more
GBenign
ALDH3A2
Microsatellite
(intron variant)
Sjögren-Larsson syndrome
+1 more
GBenign
ALDH3A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ALDH3A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALDH3A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALDH3A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALDH3A2
(P142S +1 more)
Single nucleotide variant
(missense variant)
Sjögren-Larsson syndrome
GPathogenic
ALDH3A2
(T43fs)
Deletion
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(D85N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH3A2
(T202N +1 more)
Single nucleotide variant
(missense variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
(Q35fs)
Deletion
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(D114N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH3A2
(E4*)
Single nucleotide variant
(nonsense +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(T118A)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
(G188* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(G141* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(E267* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
+1 more
GPathogenic/Likely pathogenic
ALDH3A2
(K262* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(Q254* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(K218* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(K191*)
Single nucleotide variant
(nonsense +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
(L155*)
Single nucleotide variant
(nonsense +1 more)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
Single nucleotide variant
(splice donor variant)
Sjögren-Larsson syndrome
GPathogenic
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
Sjögren-Larsson syndrome
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
(Y96C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
Sjögren-Larsson syndrome
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
Single nucleotide variant
(5 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
Single nucleotide variant
(5 prime UTR 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
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GBenign
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
Sjögren-Larsson syndrome
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
(K326N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GLikely benign
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(3 prime UTR variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(intron variant)
Sjögren-Larsson syndrome
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
(I134T)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(splice donor variant)
Sjögren-Larsson syndrome
+1 more
GPathogenic
ALDH3A2
(S17*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
ALDH3A2
(W66* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ALDH3A2
(T316fs +1 more)
Deletion
(frameshift variant)
Sjögren-Larsson syndrome
GPathogenic
ALDH3A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALDH3A2
(E137G +1 more)
Single nucleotide variant
(missense variant)
Sjögren-Larsson syndrome
+2 more
GConflicting classifications of pathogenicity
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
ALDH3A2-related disorder
+1 more
GLikely benign
ALDH3A2
(R458Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
+1 more
GLikely benign
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALDH3A2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ALDH3A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
(D40G)
Single nucleotide variant
(missense variant +1 more)
Sjögren-Larsson syndrome
+1 more
GConflicting classifications of pathogenicity
ALDH3A2
(R228H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
ALDH3A2
(C237Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALDH3A2
(Y279* +1 more)
Single nucleotide variant
(nonsense)
Sjögren-Larsson syndrome
GPathogenic
ALDH3A2
(K437* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ALDH3A2
(R311L +1 more)
Single nucleotide variant
(missense variant)
Sjögren-Larsson syndrome
GUncertain significance
ALDH3A2
Single nucleotide variant
(splice acceptor variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
Single nucleotide variant
(splice donor variant)
Sjögren-Larsson syndrome
GLikely pathogenic
ALDH3A2
Deletion
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ALDH3A2
(A491fs)
Deletion
(frameshift variant +1 more)
Sjögren-Larsson syndrome
GLikely benign
ALDH3A2
Deletion
(nonsense +1 more)
Sjögren-Larsson syndrome
+1 more
GPathogenic/Likely pathogenic
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