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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059891, SERPINF1
(P45L)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis Imperfecta, Recessive
GUncertain significance
LOC130059891, SERPINF1
(V51M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
LOC130059891, SERPINF1
(A56G)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
+1 more
GBenign/Likely benign
LOC130059891, SERPINF1
(V68L)
Single nucleotide variant
(missense variant +1 more)
SERPINF1-related condition
+3 more
GConflicting classifications of pathogenicity
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