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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
LOC130063389, LOC130063390
+75 more
Copy number gain
See cases
GUncertain significance
FCER2
(L318fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely benign
FCER2
(P312S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(P306S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(E297K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(R275H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(A270D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(R267P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(R262Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCER2
(A246S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(S218F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(G217S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(S215T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(E205K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(G196R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(C173S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(Q152P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(R141W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(G114R +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCER2
(L101S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(L92V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(I87V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FCER2
(N70D +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCER2
(T48I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(G37E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(A33T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(T30I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(G27E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(R19H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCER2
(E10K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACER1, ACSBG2
+65 more
Duplication
not provided
GUncertain significance
CRB3, CTXN1
+51 more
Deletion
Mucolipidosis type IV
GPathogenic
ADAMTS10, ANGPTL4
+35 more
Duplication
Mucolipidosis type IV
GUncertain significance
PCP2, PET100
+24 more
Duplication
Familial hemophagocytic lymphohistiocytosis 5
GUncertain significance
ANGPTL4, CAMSAP3
+30 more
Copy number gain
not provided
GUncertain significance
ACER1, ACSBG2
+165 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
FCER2, TRAPPC5
Copy number gain
See cases
GUncertain significance
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