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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC100130452, CCDC150
(Y521C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CCDC150, LOC100130452
(N547S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CCDC150, LOC100130452
(R589C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC100130452, CCDC150
(L620V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
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