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Links from MedGen

Items: 1 to 100 of 120

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(R104*)
Single nucleotide variant
(nonsense)
Hereditary intrinsic factor deficiency
GPathogenic
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(splice donor variant)
Hereditary intrinsic factor deficiency
GLikely pathogenic
CBLIF
Duplication
Hereditary intrinsic factor deficiency
GLikely pathogenic
CBLIF
Microsatellite
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(S111T)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(I333V)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(I318T)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(R352C)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(N334I)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(Y7F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CBLIF
(V370I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CBLIF
(A377T)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(Q351E)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(L74F)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(T250M)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(A16V)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(M363V)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(R104Q)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(P125S)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GBenign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(I112L)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(Q21R)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Deletion
(splice acceptor variant)
Hereditary intrinsic factor deficiency
GLikely pathogenic
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(V36I)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(M43T)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(Q91K)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(M356T)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Duplication
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(P404R)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(M252L)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(A149E)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(E397V)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(P355R)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(A377V)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(R352H)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(G260R)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(V28I)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(M80T)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(E192K)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(P394S)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(3 prime UTR variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(L9P)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(G221R)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GLikely pathogenic
CBLIF
Single nucleotide variant
(intron variant)
CBLIF-related condition
+1 more
GConflicting classifications of pathogenicity
CBLIF
(V380I)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GBenign/Likely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
(T20I)
Single nucleotide variant
(missense variant)
CBLIF-related condition
+1 more
GBenign/Likely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GConflicting classifications of pathogenicity
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GLikely benign
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
GBenign
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GConflicting classifications of pathogenicity
CBLIF
Single nucleotide variant
(intron variant)
Hereditary intrinsic factor deficiency
GBenign
CBLIF
(L161R)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(G277R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CBLIF
(Q78*)
Single nucleotide variant
(nonsense)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(G65R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CBLIF
(P394fs)
Deletion
(frameshift variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(F388S)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(H407Q)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
(M61fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
CBLIF
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
CBLIF
Single nucleotide variant
(intron variant)
CBLIF-related condition
+1 more
GConflicting classifications of pathogenicity
CBLIF
(Y52N)
Single nucleotide variant
(missense variant)
CBLIF-related condition
+2 more
GConflicting classifications of pathogenicity
CBLIF
(K73R)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GUncertain significance
CBLIF
Single nucleotide variant
(synonymous variant)
Hereditary intrinsic factor deficiency
+1 more
GBenign
CBLIF
(D83N)
Single nucleotide variant
(missense variant)
Hereditary intrinsic factor deficiency
GBenign
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