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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB1
(C225R)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GPathogenic
TGFB1
(H222D)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
Gnot provided
TGFB1
(R218H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TGFB1
(R218C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
LOC130064510, TGFB1
(Y81H)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GPathogenic
TGFB1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
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