U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL, AHCYL1
+333 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
LINC01780, LINC02868
+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
AMIGO1, AMPD2
+72 more
Copy number gain
See cases
GUncertain significance
ATXN7L2
(A9T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN7L2
(S30R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN7L2
(E34K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN7L2
(C72F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(L109V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(R54W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(R154Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(L149R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(E231K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(P176L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(L239R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(H240N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(V254M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(R264C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(E282K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(R309C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(A323V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(S350A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(R350W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(G364E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(P371A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(H402R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(R405Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(P461L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(P443L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(P443R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(L444I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(T455S +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ATXN7L2
(G486A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(C525R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(S534L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(P517L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(P549L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(S531F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(K547R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(G565R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(M649L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(M649T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(P626T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(L659Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(K615R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(A616T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(G623V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATXN7L2
(T692I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(A691T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L2
(R732C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADORA3, AHCYL1
+48 more
Copy number loss
not specified
GUncertain significance
AMIGO1, ATXN7L2
+7 more
Copy number loss
not provided
GUncertain significance
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
AKNAD1, AMIGO1
+30 more
Copy number loss
not provided
GUncertain significance
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
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination