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Items: 1 to 100 of 383

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
TGFB1
(K388fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
TGFB1
(C387S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(C387G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(C387R)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
GLikely pathogenic
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(S386fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
TGFB1
(R385H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(R385G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(I383F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(M382T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFB1
(N381S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(N381H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(E377K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(V370L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(V367M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(V367L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(I366V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(P363R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(A360V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(P354S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(N344T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(A341F)
Indel
(missense variant)
not provided
GUncertain significance
TGFB1
(A341S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGFB1
(A341T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(V339D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GBenign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Microsatellite
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GBenign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GBenign
TGFB1
Deletion
(intron variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TGFB1
(K338T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(S337T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
TGFB1
(Q335R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(T334M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(Y328C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(P325A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(Y317fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(K315R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(E313D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(E313K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(H312Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(I311V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(K309R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TGFB1
(R303H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(D301H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(I300T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(Y299*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TGFB1
(L298P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(R296Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TGFB1
(R296G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(V295M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(K291del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TGFB1
(T289M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFB1
(T289A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
(S288F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GBenign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TGFB1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TGFB1
(S287C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TGFB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TGFB1
(D281N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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