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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFITM5
(N48S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 5
GUncertain significance
IFITM5
(P31T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
IFITM5
(S40W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
IFITM5
(T93M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
IFITM5
(R34*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 5
+1 more
GConflicting classifications of pathogenicity
IFITM5
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
IFITM5
(G27A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
IFITM5
(S40L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
IFITM5, PGGHG
Single nucleotide variant
(5 prime UTR variant)
Osteogenesis imperfecta type 5
+3 more
GPathogenic
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