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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDHA1, PCDHA10
+15 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCDHA1, PCDHA10
+15 more
(D571E +10 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PCDHA1, PCDHA10
+15 more
(P576R +10 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
PCDHA10, PCDHA11
+15 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCDHA1, PCDHA10
+15 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
APBB3, BRD8
+116 more
Duplication
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GUncertain significance
CCDC69, CCNH
+385 more
Deletion
Familial adenomatous polyposis 1
+1 more
GPathogenic
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