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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
PMEL, PPP1R1A
+219 more
Copy number gain
See cases
GPathogenic
ANKRD52, APOF
+124 more
Duplication
not specified
GUncertain significance
IKZF4, LOC105369781
(R10C)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IKZF4, LOC105369781
(G15S)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IKZF4, LOC105369781
(R18H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IKZF4, LOC105369781
(P20L)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IKZF4, LOC105369781
(H23Y)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IKZF4, LOC105369781
(R24W)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IKZF4, LOC105369781
(P40L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IKZF4, LOC105369781
(N50S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IKZF4
(R108Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(M166I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4, LOC116268441
+1 more
Deletion
Diamond-Blackfan anemia 10
GPathogenic
IKZF4
(R153Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(P288T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(E334K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(Q336K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(M235I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(G268R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(P336T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(R310Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(R310L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(G379A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(R394G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(S348N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(R364G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(A421E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4
(L459W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IKZF4
(R491C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IKZF4, RPS26
+1 more
Deletion
Diamond-Blackfan anemia 10
GPathogenic
BLOC1S1, CD63
+16 more
Copy number gain
not provided
GUncertain significance
ANKRD52, APOF
+30 more
Copy number gain
not specified
GUncertain significance
BLOC1S1, CD63
+25 more
Copy number gain
not specified
GUncertain significance
CDK2, DGKA
+13 more
Copy number gain
not provided
GUncertain significance
AGAP2, ANKRD52
+105 more
Copy number gain
not provided
GPathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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