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 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
LOC125146428, LOC125146429
+400 more
Copy number gain
See cases
GPathogenic
APOBR, AQP8
+287 more
Copy number gain
See cases
GLikely pathogenic
LOC130058727, LOC130058728
+287 more
Copy number gain
See cases
GPathogenic
AQP8, ARHGAP17
+209 more
Copy number loss
See cases
GPathogenic
OTOA, PALB2
+280 more
Copy number gain
See cases
GPathogenic
CDR2, CDR2-DT
+40 more
Copy number gain
See cases
GUncertain significance
CDR2, CDR2-DT
+37 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+37 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+38 more
Copy number gain
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+40 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GBenign
CDR2, EEF2K
+32 more
Copy number gain
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number gain
See cases
GUncertain significance
CDR2, EEF2K
+32 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+39 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number gain
See cases
GUncertain significance
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
GUncertain significance; Pathogenic/Likely pathogenic
CDR2, CDR2-DT
+36 more
Copy number loss
See cases
Gconflicting data from submitters
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
GUncertain significance
CDR2-DT, LOC105371129
+35 more
Copy number loss
See cases
GUncertain significance
LOC130058635, LOC130058646
+35 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130058632, LOC130058633
+35 more
Duplication
Autism
GLikely pathogenic
CDR2, CDR2-DT
+35 more
Deletion
Schizophrenia
GLikely pathogenic
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+35 more
Deletion
Chromosome 16p12.1 deletion syndrome, 520kb
GPathogenic
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
Gconflicting data from submitters
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
GUncertain significance
CDR2, CDR2-DT
+35 more
Copy number loss
See cases
Gconflicting data from submitters
CDR2, CDR2-DT
+34 more
Deletion
not provided
GUncertain significance
CDR2, CDR2-DT
+34 more
Copy number loss
See cases
GUncertain significance
VWA3A
(T18S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V21A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(W87L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(W87S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V116M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V124M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
VWA3A
(K126E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(R135C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(R135H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
VWA3A
(P184S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(I197M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(D198N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(E199K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(A216V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(T240M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(S247N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(I256F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V266L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(R291G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(F297L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(C302Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(D303N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(M306L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(A342E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(Q358P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(N402Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(A418D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(N430S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V439I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(I441V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(A454T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(N467H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(R487W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(D517N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(A520P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(L535R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(L549F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V566M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
VWA3A
(R576W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(C583W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(D605E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(P625L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(G637S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(D639N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V644M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V649M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V675D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(Y710C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(L729V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(A733V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(P735L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
VWA3A
(M764V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(S765T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(P776L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(P777L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
VWA3A
(R784H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(E826K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(S833L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(G843S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(S848R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(E877A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(A896T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(A898T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
VWA3A
(V907I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
VWA3A
(V907A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination