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Links from Gene

Items: 1 to 100 of 149

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBX2
(H217Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(S416F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(H374R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(P303S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(M86V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G322R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(P327S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G285S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CBX2
(V208F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AFMID, BIRC5
+29 more
Duplication
Idiopathic generalized epilepsy
GUncertain significance
CBX2
(A270P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(H258Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(V208I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(P159L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(P159S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(S119P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(R79W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(T496I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(C430G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(P345L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(S111F)
Single nucleotide variant
(missense variant)
46,XY sex reversal 5
GLikely benign
CBX2
Deletion
(intron variant)
not provided
+1 more
GUncertain significance
CBX2
Single nucleotide variant
(synonymous variant)
CBX2-related disorder
GLikely benign
CBX2
Single nucleotide variant
(synonymous variant)
CBX2-related disorder
GLikely benign
CBX2
Single nucleotide variant
(synonymous variant)
CBX2-related disorder
GLikely benign
CBX2
Single nucleotide variant
(synonymous variant)
CBX2-related disorder
GLikely benign
CBX2
(T436I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
(R443C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
(G194E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2, LOC130061878
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CBX2
(S251C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
(G133S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
(S459R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
(V336L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
(R262Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
(C154fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely benign
CBX2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CBX2
(P111S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CBX2
(V114L)
Single nucleotide variant
(missense variant +1 more)
CBX2-related disorder
GUncertain significance
CBX2
(P437H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G224S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CBX2
(R70W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(T348N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(R247W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(A460S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G73R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(P98A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(A375T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CBX2
(T294M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G325E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G246S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CBX2
(P309L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1QTNF1, CANT1
+16 more
Duplication
Pityriasis rubra pilaris
+1 more
GUncertain significance
CBX2
Duplication
not provided
GUncertain significance
CBX2, LOC130061877
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
(D470N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(R450H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(R91W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(E172Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(R247Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(R373H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G367R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(R450C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(P483L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CBX2, LOC130061878
(E28Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G297R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(V505I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(S306N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(G249S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBX2
(R161W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
(Q349H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBX2
(G332D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBX2
(H331R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
(M404L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBX2, LOC130061877
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CBX2
(M260V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
(T348S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBX2
(V257M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CBX2
(A415S)
Indel
(missense variant)
not provided
GUncertain significance
CBX2
(R373C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
(T454P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
(P477H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
(V487I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EVPL, EXOC7
+146 more
Copy number gain
not provided
GPathogenic
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CBX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
(A452V)
Single nucleotide variant
(missense variant)
not provided
GBenign
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CBX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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