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Links from Gene

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC73, LOC130005485
+1 more
(V6I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC130005486, PRRG4
(C21G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(E41A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(I122M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(G63S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(M221T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(E33K)
Single nucleotide variant
(missense variant)
PRRG4-related disorder
GBenign
PRRG4
Single nucleotide variant
(synonymous variant)
PRRG4-related disorder
GBenign
PRRG4
(P176Q)
Single nucleotide variant
(missense variant)
PRRG4-related disorder
GBenign
PRRG4
Single nucleotide variant
(intron variant)
PRRG4-related disorder
GBenign
PRRG4
(S151Y)
Single nucleotide variant
(missense variant)
PRRG4-related disorder
GLikely benign
PRRG4
(S151T)
Single nucleotide variant
(missense variant)
PRRG4-related disorder
GLikely benign
PRRG4
(R145G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130005486, PRRG4
(K29E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(M221V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(A184T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRRG4
(L73P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(D106G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG4
(C143Y)
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
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
ABTB2, APIP
+41 more
Copy number loss
See cases
GPathogenic
ABTB2, ANO3
+283 more
Copy number loss
See cases
GPathogenic
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
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