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Items: 1 to 100 of 457

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH18A1
Inversion
(intron 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
(R260L +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(M263L +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
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(Q455L +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(K459* +5 more)
Duplication
(nonsense)
Cutis laxa, autosomal dominant 3
+2 more
GPathogenic
ALDH18A1
Single nucleotide variant
(synonymous 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
(R491fs +5 more)
Deletion
(frameshift variant)
Cutis laxa, autosomal dominant 3
+2 more
GPathogenic
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(P34A)
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
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(P52L)
Single nucleotide variant
(intron variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(D166G +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
(L148P +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(V643M +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Insertion
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(P269S +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
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Deletion
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(E100A)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(V154L +2 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(L53V)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(I415V +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
(V75L)
Single nucleotide variant
(missense variant +1 more)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(G503E +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(D383V +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(G348C +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(M2fs +1 more)
Deletion
(frameshift variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GPathogenic
ALDH18A1
(S532T +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(splice acceptor variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely pathogenic
ALDH18A1
(L49V +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R410G +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(G385S +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(D198fs +5 more)
Duplication
(frameshift variant)
Cutis laxa, autosomal dominant 3
+2 more
GPathogenic
ALDH18A1
(A488P +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
(G395V +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
(M438I +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(A381P +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(N232S +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(D281N +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 +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(R369P +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R7H)
Single nucleotide variant
(missense variant +1 more)
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
(R448C +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(R166W +2 more)
Single nucleotide variant
(missense variant +1 more)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
(Q349R +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
(P12A)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(I98T)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(R55C)
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
(K221R +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
(R486fs +5 more)
Deletion
(frameshift variant)
de Barsy syndrome
+2 more
GPathogenic
ALDH18A1
(Y441S +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
Deletion
(intron variant)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
(D278G +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(S582T +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(V481I +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(Q273E +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(H687Q +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
(R328* +5 more)
Single nucleotide variant
(nonsense)
Cutis laxa, autosomal dominant 3
+2 more
GPathogenic
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(M365V +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(T548I +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
Microsatellite
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(A333T +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
GLikely benign
ALDH18A1
(H305Y +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
(R84P)
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
(V74M)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+3 more
GUncertain significance
ALDH18A1
(A181T +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
ALDH18A1
(T24I)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
GUncertain significance
ALDH18A1
(R7C)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 3
+3 more
GUncertain significance
ALDH18A1
(V352A +5 more)
Single nucleotide variant
(missense variant)
Autosomal dominant spastic paraplegia type 9
+3 more
GUncertain significance
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