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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AK3, CDC37L1
+120 more
Copy number loss
See cases
GPathogenic
LOC121740738, LOC130001467
+7 more
Copy number gain
See cases
GBenign
LOC121740738, LOC130001467
+7 more
Copy number loss
See cases
GUncertain significance
LOC130001471, VLDLR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
LOC130001471, VLDLR
(D446N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130001471, VLDLR
(S454T +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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