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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHURC1-FNTB, RAB15
(T153M)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
GLikely benign
CHURC1-FNTB, RAB15
(M100T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RAB15, CHURC1-FNTB
(R27G)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CHURC1-FNTB, RAB15
(V7M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
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