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Items: 42

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
FBXO3
(R469P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO3
(R466H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO3
(R466C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO3
(R465H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO3
(D441H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXO3
(R407K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(R398Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(A395V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FBXO3
(V278I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(I263L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(V221I)
Single nucleotide variant
(missense variant)
not provided
GBenign
FBXO3
(R170H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FBXO3
(R88S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(S84C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(N72I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(R31W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(A9E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(A9G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO3
(M4T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABTB2, APIP
+40 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ABTB2, APIP
+26 more
Copy number gain
not specified
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ELF5, FBXO3
+9 more
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
LMO2, HIPK3
+7 more
Copy number gain
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
ABTB2, APIP
+41 more
Copy number loss
See cases
GPathogenic
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