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Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADORA2B, AKAP10
+333 more
Copy number gain
See cases
GPathogenic
ADORA2B, AKAP10
+337 more
Copy number gain
See cases
GPathogenic
LOC126862516, LOC126862517
+314 more
Copy number loss
See cases
GPathogenic
FAM106C, FAM83G
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
LOC130060361, LOC130060362
+281 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number gain
See cases
GPathogenic
LOC130060442, LOC130060443
+251 more
Copy number gain
See cases
GPathogenic
MYO15A, NT5M
+252 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+249 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+251 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+253 more
Copy number gain
See cases
GPathogenic
LOC130060419, LOC130060420
+248 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+252 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
LOC130060406, LOC130060407
+248 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+247 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+250 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+252 more
Deletion
Autism
GPathogenic
DRC3, LOC130060351
+248 more
Duplication
Autism
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+243 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+244 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+243 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+245 more
Copy number gain
See cases
GPathogenic
LOC130060411, LOC130060412
+245 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+245 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+242 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number gain
See cases
GPathogenic
SLC5A10, SMCR2
+242 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+242 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+242 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+242 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+241 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+226 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+220 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+187 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+91 more
Copy number gain
See cases
GUncertain significance
AKAP10, ALDH3A1
+87 more
Deletion
Meckel syndrome, type 9
GPathogenic
AKAP10, ALDH3A1
+87 more
Copy number loss
See cases
GLikely pathogenic
AKAP10, ALDH3A1
+87 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+116 more
Copy number gain
See cases
GUncertain significance
AKAP10, ALDH3A1
+67 more
Copy number gain
See cases
GUncertain significance
AKAP10
(K658E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AKAP10
(P655T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(Q649R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(I646V +1 more)
Single nucleotide variant
(missense variant)
AKAP10-related disorder
+1 more
GConflicting classifications of pathogenicity
AKAP10
(G526R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(I507V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(A506V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
Single nucleotide variant
(intron variant)
AKAP10-related disorder
GBenign
AKAP10
(S544A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP10
(H537Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP10
(S536T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP10
(G528V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP10
(S523L)
Single nucleotide variant
(missense variant +1 more)
AKAP10-related disorder
GBenign
AKAP10
(G519D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP10
Single nucleotide variant
(intron variant)
Conduction disorder of the heart
GUncertain significance
AKAP10
(R481H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
Single nucleotide variant
(intron variant)
AKAP10-related disorder
GLikely benign
AKAP10
(W409C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(W409L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
Single nucleotide variant
(synonymous variant)
AKAP10-related disorder
GLikely benign
AKAP10
(Q369H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(V341I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
Single nucleotide variant
(synonymous variant)
AKAP10-related disorder
GLikely benign
AKAP10
(N338S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(G333E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(A326G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(M320V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(D297V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(S293N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(K284E)
Single nucleotide variant
(missense variant)
SUDDEN INFANT DEATH SYNDROME
GUncertain significance
AKAP10
(A280T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(A274V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(S268F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(V260I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(R254S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(R249H)
Single nucleotide variant
(missense variant)
AKAP10-related disorder
GBenign
AKAP10
(D243N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(S231R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(I223T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
Single nucleotide variant
(synonymous variant)
AKAP10-related disorder
GLikely benign
AKAP10
(S187F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(N175H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(I169V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(S167L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(T90A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP10
(I73V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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