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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MBTPS2
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
MBTPS2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
MBTPS2
Microsatellite
(inframe_deletion)
not specified
+1 more
GConflicting classifications of pathogenicity
MBTPS2
(T158A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS2
(I236V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MBTPS2
(P243S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS2
(L247V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS2
(R429H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MBTPS2
(K490E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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