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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPP2R5B
(P11L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP2R5B
(R40W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP2R5B
(C93S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP2R5B
(R104W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP2R5B
(V125L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP2R5B, LOC126861234
(P142A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126861234, PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126861234, PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126861234, PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC126861234, PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC126861234, PPP2R5B
(R174H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126861234, PPP2R5B
(S178I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126861234, PPP2R5B
(L201V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PPP2R5B, LOC126861234
(Y221H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GBenign
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GBenign
PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP2R5B
(T272M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GBenign
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PPP2R5B
Single nucleotide variant
(intron variant)
not provided
GBenign
PPP2R5B
(T427S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP2R5B
(K434R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP2R5B
Indel
(intron variant)
not provided
GLikely benign
PPP2R5B
(Q455K)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PPP2R5B
(P488del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
PPP2R5B
(P488R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PPP2R5B
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
AP5B1, ARL2
+81 more
Deletion
Glycogen storage disease, type V
+1 more
GPathogenic
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