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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA1, NIPSNAP3B
(Q2196H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ABCA1, NIPSNAP3B
(S2186F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
NIPSNAP3B, ABCA1
(R2173W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1, NIPSNAP3B
(L2068M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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