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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
TGFB1
(L11Q)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
+4 more
GUncertain significance
TGFB1
(P10L)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
+4 more
GBenign
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