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Links from Gene

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P3R3URF-PIK3R3, PIK3R3
(V385G +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(D341H +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(N339D +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(A138G +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(K343R +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(N364S +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
P3R3URF-PIK3R3, PIK3R3
(E139G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(D339N +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(D318V +6 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
AKR1A1, ARMH1
+39 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(E234Q +5 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(H381R +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(D40N +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(H141D +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(H142R +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(R136Q +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
(R255Q +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAST2, PIK3R3
+2 more
Copy number gain
not provided
GUncertain significance
CCDC17, GPBP1L1
+9 more
Copy number gain
not specified
GUncertain significance
AGBL4, AKR1A1
+58 more
Copy number loss
not specified
GLikely pathogenic
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
PIK3R3, GPBP1L1
+5 more
Copy number gain
not provided
GUncertain significance
P3R3URF-PIK3R3, PIK3R3
Duplication
(splice donor variant)
not provided
GLikely benign
IPP, PIK3R3
+1 more
Copy number gain
not provided
GUncertain significance
LURAP1, TSPAN1
+8 more
Copy number gain
not provided
GUncertain significance
PIK3R3
Copy number gain
not provided
GUncertain significance
CCDC17, GPBP1L1
+5 more
Copy number gain
not provided
GUncertain significance
PIK3R3, POMGNT1
+1 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
DMBX1, FAAH
+11 more
Copy number gain
See cases
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
MAST2, PIK3R3
Copy number gain
See cases
GBenign
CCDC17, GPBP1L1
+9 more
Copy number gain
See cases
GUncertain significance
GPBP1L1, IPP
+3 more
Copy number gain
See cases
GUncertain significance
PIK3R3, P3R3URF-PIK3R3
(R266H +5 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
AKR1A1, CCDC17
+32 more
Copy number gain
See cases
GUncertain significance
AKR1A1, CCDC163
+53 more
Copy number gain
See cases
GLikely benign
AKR1A1, CCDC163
+52 more
Copy number gain
See cases
GUncertain significance
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