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Items: 89

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABTB2, ANO3
+283 more
Copy number loss
See cases
GPathogenic
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
CCDC73, EIF3M
(T1071R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC73, EIF3M
(T1071A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC73, EIF3M
(D1060E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC73, EIF3M
(S1042R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC73, EIF3M
(T1019I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC73
(F1001L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(M997I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(K994N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(K987Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(N979K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(S969T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(V959G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC73
(D958E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(D938V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(D938N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(S929F)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC73
(S924L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(S923I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC73
(A921V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(S918N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(I916V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(N903I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(K894N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(T885A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(G882R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(S874T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(M857I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(G855E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(E844Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(N808S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(T802R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(A789T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(A717V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(V700I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(I635V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(K626E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(A614V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(L606F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(N572T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(I520R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(T506M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(V474D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(I471T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(E453Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(F451V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(E442Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(N430S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(I416F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(I416V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC73
(G356V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(D318N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(R292W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(A220E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(S212N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(I193V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(T172I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(I164T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(D156G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(H150Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(Q130P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(K92T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(A88T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(Y51H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(R42H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(R42C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73
(N4T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC73, LOC130005485
+1 more
(V6I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ABTB2, APIP
+40 more
Copy number loss
not provided
GPathogenic
CCDC73, EIF3M
Copy number loss
See cases
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
CCDC73
Copy number loss
not provided
GUncertain significance
DKK3, DNAJC24
+116 more
Copy number gain
not provided
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
ABTB2, ANO3
+55 more
Copy number loss
not provided
GPathogenic
ARL14EP, C11orf91
+23 more
Copy number loss
not provided
GPathogenic
LMO2, NAT10
+14 more
Copy number loss
not provided
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ABTB2, ANO3
+48 more
Copy number loss
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
ABTB2, APIP
+50 more
Copy number loss
See cases
GPathogenic
ABTB2, APIP
+30 more
Copy number loss
See cases
GPathogenic
CCDC73, PRRG4
Copy number gain
See cases
GLikely benign
KCNA4, KIF18A
+39 more
Copy number loss
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
GPathogenic
MPPED2, KCNA4
+12 more
Copy number loss
11p partial monosomy syndrome
GPathogenic
ABTB2, APIP
+41 more
Copy number loss
See cases
GPathogenic
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