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Items: 1 to 100 of 255

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM111A
Single nucleotide variant
(intron variant)
not provided
GBenign
FAM111A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
FAM111A
(C3S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(R9W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
FAM111A-related disorder
+1 more
GBenign/Likely benign
FAM111A
(E22K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(P27L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(intron variant)
not provided
GBenign
FAM111A
Single nucleotide variant
(intron variant)
not provided
GBenign
FAM111A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FAM111A
Deletion
(intron variant)
not provided
GBenign
FAM111A
Single nucleotide variant
(intron variant)
not provided
GBenign
FAM111A
Deletion
(intron variant)
not provided
GLikely benign
FAM111A
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
FAM111A
(C36Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM111A
(R42M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(S45P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(S45T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAM111A
(Q56E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(Q56R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(A57T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(E68K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
FAM111A
(T71N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FAM111A
(M72T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(T77fs)
Deletion
(frameshift variant)
not provided
GLikely benign
FAM111A
(I78M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FAM111A
(Y79N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(V80A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(L82M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(H86D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FAM111A
(H86R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(L94fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(L96V)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAM111A
(H98R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAM111A
(L104I)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
FAM111A
(M106L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(M106V)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM111A
(N109S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
FAM111A-related disorder
GLikely benign
FAM111A
(I118fs)
Deletion
(frameshift variant)
not provided
GLikely benign
FAM111A
(I118V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FAM111A
(I118R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(I118T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
FAM111A
(I118M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(Q122*)
Single nucleotide variant
(nonsense)
Short stature
+2 more
GConflicting classifications of pathogenicity
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(M126T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(M126I)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM111A
(R129H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FAM111A
(G133E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAM111A
(I134S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(P143S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
FAM111A-related disorder
GLikely benign
FAM111A
(S162fs)
Deletion
(frameshift variant)
FAM111A-related disorder
GUncertain significance
FAM111A
(K161R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
FAM111A
(K163fs)
Deletion
(frameshift variant)
not provided
+1 more
GLikely benign
FAM111A
(S162G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(Q174K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FAM111A
(K176E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(A177T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(S178P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(S178L)
Single nucleotide variant
(missense variant)
Osteocraniostenosis
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAM111A
(E180A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(A188G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FAM111A
(G192V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(K193R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(C194S)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM111A
(C201Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM111A
(C201*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FAM111A
(K203N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(R209C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
(R209L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FAM111A
(R209H)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM111A
(C212R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FAM111A
(C226F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(R230S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAM111A
Single nucleotide variant
(synonymous variant)
FAM111A-related disorder
+1 more
GBenign/Likely benign
FAM111A
(Q254R)
Single nucleotide variant
(missense variant)
not provided
GBenign
FAM111A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FAM111A
(F264fs)
Duplication
(frameshift variant)
FAM111A-related disorder
+2 more
GBenign/Likely benign
FAM111A
(Q265K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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