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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
FLT3LG, LOC130064919
(T2I)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FLT3LG, LOC130064919
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
FLT3LG
(S22L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLT3LG
(R81H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLT3LG
(R3Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FLT3LG
(M12I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FLT3LG
(R100G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FLT3LG
(R18H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FLT3LG
(S118fs +1 more)
Deletion
(frameshift variant)
Immunodeficiency 125
GPathogenic
FLT3LG
(P115R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FLT3LG
(A140V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FLT3LG
(A99S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FLT3LG
(C204Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FLT3LG
(R211Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADM5, AKT1S1
+35 more
Duplication
Developmental and epileptic encephalopathy, 12
GUncertain significance
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
FPR3, ZNF577
+115 more
Copy number gain
not specified
GLikely pathogenic
ADM5, ALDH16A1
+45 more
Duplication
Developmental and epileptic encephalopathy, 12
GUncertain significance
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
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