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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNB
(W148R)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(L171Q)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(G181V)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(C183W)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(Q203P)
Single nucleotide variant
(missense variant)
Atelosteogenesis type I
Gnot provided
FLNB
(D1583del +1 more)
Deletion
(inframe_deletion)
Atelosteogenesis type I
Gnot provided
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