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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997812, EIF3B
(P93L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EIF3B, LOC129997812
(P100R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
EIF3B, LOC129997812
(P100H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
EIF3B, LOC129997812
(R120W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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