U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 33

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
ANO3, ANO3-AS1
+71 more
Copy number gain
See cases
GPathogenic
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
ARL14EP
(Y21F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL14EP
(T23A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL14EP
(M39T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL14EP
(R45G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARL14EP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL14EP
Single nucleotide variant
(intron variant)
not provided
GBenign
ARL14EP
(F154C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL14EP
(T180P)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARL14EP
(Y195C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL14EP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARL14EP
(C209R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL14EP
(G218E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ARL14EP
(R239C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARL14EP, DCDC1
+9 more
Deletion
not provided
GUncertain significance
BDNF, BDNF-AS
+11 more
Copy number loss
not provided
Gnot provided
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
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
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
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
KCNA4, KIF18A
+39 more
Copy number loss
Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
GPathogenic
DCDC1, DNAJC24
+44 more
Copy number loss
Aniridia 1
GPathogenic
MPPED2, KCNA4
+12 more
Copy number loss
11p partial monosomy syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination