U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 698

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105378448, LOC107195252
+245 more
Copy number loss
See cases
GPathogenic
LOC130004555, LOC130004556
+375 more
Copy number loss
See cases
GPathogenic
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
ALDH18A1
Single nucleotide variant
Cutis laxa, recessive
GUncertain significance
ALDH18A1
Deletion
(3 prime UTR variant)
Cutis laxa, recessive
GUncertain significance
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GLikely benign
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GBenign
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GUncertain significance
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GUncertain significance
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GBenign
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GUncertain significance
C10orf131, CC2D2B
+24 more
Copy number loss
See cases
GUncertain significance
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GBenign
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GUncertain significance
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GBenign
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
GUncertain significance
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
ALDH18A1-related de Barsy syndrome
+1 more
GBenign/Likely benign
ALDH18A1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ALDH18A1
(N795D +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)
ALDH18A1-related disorder
+5 more
GLikely benign
ALDH18A1
(E573K +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(H784Y +5 more)
Single nucleotide variant
(missense variant)
ALDH18A1-related de Barsy syndrome
GPathogenic
ALDH18A1
(Y782S +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ALDH18A1
(Y780C +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH18A1
(Y570H +5 more)
Single nucleotide variant
(missense variant)
ALDH18A1-related de Barsy syndrome
GLikely pathogenic
ALDH18A1
(L780S +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(S668G +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ALDH18A1
(H775N +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(H565Y +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(E564D +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH18A1
(V558M +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALDH18A1
(R765Q +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+4 more
GConflicting classifications of pathogenicity
ALDH18A1
(R765* +5 more)
Single nucleotide variant
(nonsense)
Cutis laxa, autosomal dominant 3
+3 more
GConflicting classifications of pathogenicity
ALDH18A1
(W550* +5 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALDH18A1
(T548I +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(T725A +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(T757I +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+3 more
GUncertain significance
ALDH18A1
(L755R +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(G645E +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH18A1
(L641F +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(G753R +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+2 more
GUncertain significance
ALDH18A1
(R636Q +5 more)
Single nucleotide variant
(missense variant)
ALDH18A1-related de Barsy syndrome
+1 more
GPathogenic
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(synonymous variant)
de Barsy syndrome
+4 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant spastic paraplegia type 9
+6 more
GConflicting classifications of pathogenicity
ALDH18A1
(S744L +5 more)
Single nucleotide variant
(missense variant)
Autosomal dominant spastic paraplegia type 9
+2 more
GUncertain significance
ALDH18A1
(S744W +5 more)
Single nucleotide variant
(missense variant)
Autosomal dominant spastic paraplegia type 9
+3 more
GConflicting classifications of pathogenicity
ALDH18A1
(S532T +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(S629I +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 9A
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
ALDH18A1-related disorder
+7 more
GBenign/Likely benign
ALDH18A1
Inversion
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal dominant spastic paraplegia type 9
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 9A
+4 more
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
ALDH18A1
(G734E +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GUncertain significance
ALDH18A1
(G623R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALDH18A1
(R732H +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ALDH18A1
(R732C +5 more)
Single nucleotide variant
(missense variant)
Autosomal dominant spastic paraplegia type 9
+4 more
GUncertain significance
ALDH18A1
(D517G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH18A1
(D517V +5 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic
ALDH18A1
(R514L +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALDH18A1
(R514H +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive complex spastic paraplegia type 9B
+5 more
GConflicting classifications of pathogenicity
ALDH18A1
(R514C +5 more)
Single nucleotide variant
(missense variant)
de Barsy syndrome
+3 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant spastic paraplegia type 9
+4 more
GConflicting classifications of pathogenicity
ALDH18A1
(F609S +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
GUncertain significance
ALDH18A1
(A505T +5 more)
Single nucleotide variant
(missense variant)
Autosomal dominant spastic paraplegia type 9
+2 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
(D715H +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely pathogenic
ALDH18A1
(V679I +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant spastic paraplegia type 9
+2 more
GLikely benign
ALDH18A1
(Q677R +5 more)
Single nucleotide variant
(missense variant)
ALDH18A1-related de Barsy syndrome
+3 more
GUncertain significance
ALDH18A1
(L676fs +5 more)
Deletion
(frameshift variant)
ALDH18A1-related de Barsy syndrome
GPathogenic
ALDH18A1
Single nucleotide variant
(synonymous variant)
Autosomal dominant spastic paraplegia type 9
+3 more
GLikely benign
ALDH18A1
(T671fs +5 more)
Microsatellite
(frameshift variant)
Autosomal dominant spastic paraplegia type 9
+2 more
GPathogenic
ALDH18A1
(N493S +5 more)
Single nucleotide variant
(missense variant)
Autosomal dominant spastic paraplegia type 9
+3 more
GUncertain significance
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal dominant spastic paraplegia type 9
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
de Barsy syndrome
+3 more
GLikely benign
ALDH18A1
Microsatellite
(intron variant)
Cutis laxa, autosomal dominant 3
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal dominant spastic paraplegia type 9
+2 more
GLikely benign
ALDH18A1
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
not provided
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 9A
+4 more
GBenign
ALDH18A1
Single nucleotide variant
(intron variant)
Autosomal dominant spastic paraplegia type 9
+4 more
GConflicting classifications of pathogenicity
ALDH18A1
Single nucleotide variant
(intron variant)
de Barsy syndrome
+2 more
GLikely benign
ALDH18A1
(E492K +5 more)
Single nucleotide variant
(missense variant)
ALDH18A1-related disorder
+5 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination