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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
ABTB2, APIP
+100 more
Copy number gain
See cases
GPathogenic
ABTB2, APIP
+100 more
Copy number gain
See cases
GUncertain significance
APIP, CD44
+74 more
Duplication
11p13 microduplication syndrome
GUncertain significance
CD44, CD44-AS1
+66 more
Copy number loss
See cases
GUncertain significance
CD44, CD44-AS1
+56 more
Copy number loss
See cases
GUncertain significance
TRIM44
(A8V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(C33G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(R42C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(F52Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
Single nucleotide variant
(synonymous variant)
TRIM44-related disorder
GBenign
TRIM44
(E59Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(P70A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(P70L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(E74D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIM44
(A76G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(V85L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(Q87R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(E97K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(E98D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(E140K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(N145D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(A153V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(G155R)
Single nucleotide variant
(missense variant)
Aniridia 3
GPathogenic
TRIM44
(E156G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACCS, ACCSL
+225 more
Copy number loss
See cases
GPathogenic
TRIM44
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIM44
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TRIM44
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TRIM44
(P202S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
Single nucleotide variant
(intron variant)
TRIM44-related disorder
GLikely benign
TRIM44
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TRIM44
(A233T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(Q267E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
(K314R)
Single nucleotide variant
(missense variant)
not provided
GBenign
TRIM44
(D331V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIM44
Single nucleotide variant
(3 prime UTR variant)
Aniridia 3
+1 more
GBenign
FJX1, PAMR1
+1 more
Copy number gain
not provided
GUncertain significance
ABTB2, APIP
+40 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ABTB2, APIP
+16 more
Copy number gain
not specified
GUncertain significance
ABTB2, APIP
+26 more
Copy number gain
not specified
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
LDLRAD3, TRIM44
Copy number gain
not provided
GUncertain significance
ABTB2, APIP
+16 more
Copy number gain
not provided
GUncertain significance
CD44, COMMD9
+10 more
Copy number loss
See cases
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
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
+41 more
Copy number loss
See cases
GPathogenic
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