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Links from MedGen

Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINF1
(R149H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Osteogenesis imperfecta type 6
+1 more
GConflicting classifications of pathogenicity
SERPINF1
(K262N +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
GUncertain significance
LOC130059892, SERPINF1
(S84R)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
LOC130059892, SERPINF1
(S93P)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(P173S)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
Single nucleotide variant
(5 prime UTR variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1, LOC130059891
(L65P)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(R172fs +1 more)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 6
GLikely pathogenic
SERPINF1
(W177* +1 more)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 6
GLikely pathogenic
SERPINF1
(W177* +1 more)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 6
GLikely pathogenic
SERPINF1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type 6
GLikely pathogenic
SERPINF1
(P26fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
SERPINF1
(F277del +1 more)
Microsatellite
(inframe_deletion)
Osteogenesis imperfecta type 6
GLikely pathogenic
SERPINF1
(E27fs)
Duplication
(frameshift variant +1 more)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
(D14N +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SERPINF1
(R116* +1 more)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 6
+1 more
GPathogenic/Likely pathogenic
LOC130059892, SERPINF1
(S93*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
SERPINF1
(L280fs +1 more)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(A131D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SERPINF1
(P74L)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(A405V +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(L353M +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
+1 more
GUncertain significance
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 6
+1 more
GConflicting classifications of pathogenicity
LOC130059891, SERPINF1
(A56G)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
+1 more
GBenign/Likely benign
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 6
+1 more
GConflicting classifications of pathogenicity
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 6
+2 more
GConflicting classifications of pathogenicity
SERPINF1
(E324K +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(L118V +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
+1 more
GUncertain significance
SERPINF1
(P279S +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
+1 more
GUncertain significance
SERPINF1
(F89I +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
+1 more
GUncertain significance
SERPINF1
(G270R +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
+2 more
GUncertain significance
SERPINF1
(V239M +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
+1 more
GUncertain significance
LOC130059891, SERPINF1
(V51M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
SERPINF1
(T170M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SERPINF1
(V168F)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 6
GBenign
SERPINF1
(W217* +1 more)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
(L219F +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
GLikely pathogenic
SERPINF1
(Q187*)
Single nucleotide variant
(nonsense +1 more)
Osteogenesis imperfecta type 6
GLikely pathogenic
SERPINF1
(L406fs +1 more)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
SERPINF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Osteogenesis imperfecta type 6
+1 more
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 6
+1 more
GConflicting classifications of pathogenicity
SERPINF1
(Q133*)
Single nucleotide variant
(nonsense +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(M244del +1 more)
Microsatellite
(inframe_deletion)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
Single nucleotide variant
(3 prime UTR variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SERPINF1
(T184I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SERPINF1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 6
+1 more
GConflicting classifications of pathogenicity
SERPINF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SERPINF1
(T238I +1 more)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 6
+1 more
GConflicting classifications of pathogenicity
SERPINF1
(P132R)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta
+3 more
GBenign
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
LOC130059892, SERPINF1
(A86V)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
GUncertain significance
SERPINF1
(T72M)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
SERPINF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SERPINF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
LOC130059891, SERPINF1
(V68L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SERPINF1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 6
+2 more
GBenign/Likely benign
SERPINF1
(F197fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
LOC130059892, SERPINF1
(S81C)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 6
+3 more
GConflicting classifications of pathogenicity
SERPINF1
(V31fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
SERPINF1
Duplication
(splice donor variant)
Osteogenesis imperfecta type 6
GPathogenic
LOC130059891, SERPINF1
(V40fs)
Deletion
(frameshift variant +1 more)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
(Q378* +1 more)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
(Y109fs)
Microsatellite
(frameshift variant +1 more)
Osteogenesis imperfecta type 6
GPathogenic
SERPINF1
(Y232* +1 more)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 6
GPathogenic
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