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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELAPOR1, EPS8L3
+276 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
ADORA3, AHCYL1
+391 more
Copy number gain
See cases
GPathogenic
CEPT1
(T7A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(V20A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(T40I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(R45K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(Y56C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(I95V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(I120V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CEPT1
(N178S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(I229T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CEPT1
(C262Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(K314R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(R386C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CEPT1
(S397C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADORA3, AHCYL1
+48 more
Copy number loss
not specified
GUncertain significance
CD53, CEPT1
+4 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
ADORA3, AP4B1
+34 more
Deletion
not provided
GPathogenic
CEPT1, DRAM2
Copy number gain
not provided
GUncertain significance
NHLH2, NOTCH2
+78 more
Copy number gain
not specified
GPathogenic
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
CEPT1, DENND2D
+2 more
Duplication
not provided
GUncertain significance
ADORA3, ATP5PB
+19 more
Copy number loss
not provided
GPathogenic
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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