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Links from Gene

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRRG2
(P164R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064928, PRRG2
(P170S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(T64A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(G117V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064928, PRRG2
(P194L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADM5, AKT1S1
+35 more
Duplication
Developmental and epileptic encephalopathy, 12
GUncertain significance
PRRG2
(P168T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(G102C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(R66H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(A50D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
LOC130064928, PRRG2
(P171S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(P34R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(P11S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRRG2
(G10S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(S86C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(R112Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130064928, PRRG2
(P171A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(L136V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(G125S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(R110H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRRG2
(G137R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(A54T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRRG2
(L32P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FPR3, ZNF577
+115 more
Copy number gain
not specified
GLikely pathogenic
ADM5, ALDH16A1
+45 more
Duplication
Developmental and epileptic encephalopathy, 12
GUncertain significance
IRF3, NOSIP
+4 more
Copy number loss
See cases
GLikely pathogenic
PPP1R15A, PPP2R1A
+308 more
Copy number gain
not provided
GPathogenic
GRIN2D, GRWD1
+228 more
Copy number gain
not provided
Gnot provided
C5AR1, C5AR2
+293 more
Copy number gain
not provided
GPathogenic
C19orf81, CD37
+66 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
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