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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065244, MZF1
+1 more
(R343L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130065244, MZF1
+1 more
(R336H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130065244, MZF1
+1 more
(E314D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130065244, MZF1
+1 more
(L307P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC130065244, MZF1
+1 more
(L305P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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