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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZBTB18
(M47V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZBTB18
(T123M +1 more)
Single nucleotide variant
(missense variant)
ZBTB18-related disorder
GUncertain significance
ZBTB18
(S138W +1 more)
Single nucleotide variant
(missense variant)
ZBTB18-related disorder
GUncertain significance
ZBTB18
(G147V +1 more)
Single nucleotide variant
(missense variant)
ZBTB18-related disorder
GUncertain significance
ZBTB18
(V236A +1 more)
Single nucleotide variant
(missense variant +1 more)
ZBTB18-related disorder
GUncertain significance
ZBTB18
(S342T +1 more)
Single nucleotide variant
(missense variant +1 more)
ZBTB18-related disorder
GUncertain significance
ZBTB18
(E352D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
ZBTB18
(F475L +1 more)
Single nucleotide variant
(missense variant +1 more)
ZBTB18-related disorder
GUncertain significance
ZBTB18
(R486C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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