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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
ADSS1, AKT1
+177 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+256 more
Copy number loss
See cases
GPathogenic
ADSS1, AKT1
+42 more
Copy number gain
See cases
GUncertain significance
ZBTB42
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ZBTB42
(A134T)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZBTB42
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZBTB42
(E232K)
Single nucleotide variant
(missense variant)
Lethal congenital contracture syndrome 6
+1 more
GBenign
ZBTB42
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CDCA4, ZBTB42
+6 more
Copy number loss
See cases
GUncertain significance
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