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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDC42BPB
(L1701V +1 more)
Single nucleotide variant
(missense variant)
Chilton-Okur-Chung neurodevelopmental syndrome
+1 more
GUncertain significance
CDC42BPB
(R1194W +1 more)
Single nucleotide variant
(missense variant)
Chilton-Okur-Chung neurodevelopmental syndrome
GUncertain significance
CDC42BPB
(D1125N +1 more)
Single nucleotide variant
(missense variant)
Chilton-Okur-Chung neurodevelopmental syndrome
GUncertain significance
CDC42BPB
Deletion
(inframe_indel +1 more)
Chilton-Okur-Chung neurodevelopmental syndrome
GUncertain significance
CDC42BPB
(M225I)
Single nucleotide variant
(missense variant)
Chilton-Okur-Chung neurodevelopmental syndrome
GUncertain significance
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