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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MBTPS1
(G981S)
Single nucleotide variant
(missense variant)
MBTPS1-related condition
+1 more
GBenign/Likely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
MBTPS1-related condition
+1 more
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
MBTPS1-related condition
+1 more
GBenign/Likely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
MBTPS1-related condition
+1 more
GBenign/Likely benign
MBTPS1
(G17E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
(I6T)
Single nucleotide variant
(missense variant)
MBTPS1-related condition
+2 more
GBenign/Likely benign
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