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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GLikely benign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
+1 more
GBenign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GLikely benign
CCDC18
Single nucleotide variant
(intron variant)
CCDC18-related disorder
GBenign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GBenign
CCDC18
(N326T)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GBenign
CCDC18
(R429C)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GBenign
CCDC18
(E443D)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GBenign
CCDC18
(L448P)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GLikely benign
CCDC18
(S480G)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GLikely benign
CCDC18
(P490H)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GLikely benign
CCDC18
(E570K +1 more)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GLikely benign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GLikely benign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GLikely benign
CCDC18
Microsatellite
(intron variant)
CCDC18-related disorder
GBenign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GBenign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
+1 more
GBenign
CCDC18
(N896D +1 more)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GBenign
CCDC18
Single nucleotide variant
(intron variant)
CCDC18-related disorder
GLikely benign
CCDC18
(L1080V +1 more)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GBenign
CCDC18
(R1107S +1 more)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GBenign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GBenign
CCDC18
(S1168F +1 more)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GLikely benign
CCDC18
(D1268E +1 more)
Single nucleotide variant
(missense variant)
CCDC18-related disorder
GBenign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GLikely benign
CCDC18
Single nucleotide variant
(synonymous variant)
CCDC18-related disorder
GBenign
CCDC18
(I1305F +1 more)
Single nucleotide variant
(missense variant +1 more)
CCDC18-related disorder
GBenign
CCDC18
Single nucleotide variant
(synonymous variant +1 more)
CCDC18-related disorder
GLikely benign
CCDC18
Insertion
(inframe_indel +1 more)
CCDC18-related disorder
GLikely benign
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