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Items: 1 to 100 of 333

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
(N14S)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive complex spastic paraplegia type 9B
+1 more
GUncertain significance
ALDH18A1
Deletion
Hereditary spastic paraplegia 9A
+2 more
GPathogenic
ALDH18A1
Single nucleotide variant
(synonymous variant +1 more)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(R94H)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(T25A)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(G78S)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GConflicting classifications of pathogenicity
ALDH18A1
(N45K)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(M256T +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(Q356R +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(Q562R +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R340C +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(E573K +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R558H +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(I173V +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+3 more
GUncertain significance
ALDH18A1
(V528M +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(V114del +5 more)
Microsatellite
(inframe_deletion)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(L780S +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(E410D +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(T323A +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R128C +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(V469F +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(I340T +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(L281V +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(H775N +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(P486L +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(S136N +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(A215T +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(A98I +5 more)
Indel
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(D86N)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(S318Y +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(V430L +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(G322V +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(V74L)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(I32T)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(I37M)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R344C +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Microsatellite
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(R64C)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Deletion
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(R453* +5 more)
Single nucleotide variant
(nonsense)
Cutis laxa, autosomal dominant 3
+2 more
GPathogenic
ALDH18A1
(R330Q +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R41C)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+3 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(E87K)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(T671fs +5 more)
Microsatellite
(frameshift variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(G304V +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ALDH18A1
Deletion
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(R141G +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(A488S +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(K235E +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(I71fs +1 more)
Deletion
(frameshift variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GPathogenic
ALDH18A1
(K76R)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(splice donor variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely pathogenic
ALDH18A1
(Q4R)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(P47L)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R403Q +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(A505T +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(V137G +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Deletion
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GBenign
ALDH18A1
(E343Q +5 more)
Indel
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(N14D)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Deletion
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(K13R +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(G734E +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(Q521K +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(I403V +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(S480T +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R445G +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(E157Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
ALDH18A1
(A74F +1 more)
Indel
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
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