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Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL, AHCYL1
+332 more
Copy number loss
See cases
GPathogenic
ELAPOR1, EPS8L3
+276 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
LOC129931064, LOC129931065
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+148 more
Copy number loss
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
ALX3
Insertion
(3 prime UTR variant)
not provided
GBenign
ALX3
(P335L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(K333T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(K331N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
Single nucleotide variant
(synonymous variant)
ALX3-related condition
GLikely benign
ALX3
(Y320C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALX3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ALX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALX3
(P288S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(L260F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(P250A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ALX3
(L246fs)
Deletion
(frameshift variant)
Frontorhiny
GLikely pathogenic
ALX3
(V232M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(Y228C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(R221Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALX3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
ALX3
(N203S)
Single nucleotide variant
(missense variant)
Frontorhiny
GPathogenic
ALX3
Single nucleotide variant
(splice acceptor variant)
Frontorhiny
GPathogenic
ALX3
Single nucleotide variant
(intron variant)
not provided
GBenign
ALX3
Single nucleotide variant
(intron variant)
not provided
GBenign
ALX3
(Q198*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ALX3
(R196W)
Single nucleotide variant
(missense variant)
Frontorhiny
GPathogenic
ALX3
(T193fs)
Microsatellite
(frameshift variant)
Frontorhiny
GPathogenic
ALX3
(L186V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALX3
(R183W)
Single nucleotide variant
(missense variant)
Frontorhiny
GPathogenic
ALX3
(Y181*)
Single nucleotide variant
(nonsense)
Frontorhiny
GPathogenic
ALX3
(L168V)
Single nucleotide variant
(missense variant)
Frontorhiny
GPathogenic
ALX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALX3
Single nucleotide variant
(synonymous variant)
ALX3-related condition
+1 more
GBenign/Likely benign
ALX3
(L136V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(S131R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALX3
(G117R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(D116H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(K96del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
ALX3
Single nucleotide variant
(intron variant)
not provided
GBenign
ALX3
Single nucleotide variant
(intron variant)
not provided
GBenign
ALX3
Single nucleotide variant
(intron variant)
not provided
GBenign
ALX3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALX3
(G78R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(G78S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ALX3
(A65T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(P64L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(L61H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(L61V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALX3
(P56S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(P52L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ALX3
(P43S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(H39L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(H37Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(H37Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
(T31S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ALX3
(A7V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADORA3, AHCYL1
+48 more
Copy number loss
not specified
GUncertain significance
ADORA3, AHCYL1
+77 more
Copy number loss
not provided
GPathogenic
ADORA3, AHCYL1
+54 more
Copy number loss
not provided
GPathogenic
AHCYL1, AKNAD1
+52 more
Deletion
Hereditary spastic paraplegia 63
+1 more
GPathogenic
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
ALX3, KCNA10
+8 more
Deletion
Developmental and epileptic encephalopathy, 32
GPathogenic
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
AHCYL1, AKNAD1
+47 more
Deletion
not provided
Gnot provided
KCNC4, LAMTOR5
+50 more
Deletion
1p13.3 deletion syndrome
GLikely pathogenic
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
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