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Items: 1 to 100 of 252

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INTU
(P11R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(S12N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(P20A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
INTU
(P20L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(E25del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
INTU
(E25D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
INTU
(D26V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(D28V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(F31Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
INTU
(V35A)
Single nucleotide variant
(missense variant)
not provided
GBenign
INTU
(S36T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(D37Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(A44V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
(D50A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(F66L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(S71N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(D73Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(S77G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(R89S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(I95L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
INTU
(D99N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(Y107H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(Q113K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(R119T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INTU
(R127H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(D135G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INTU
(N136S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
INTU
(P138S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(G151E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(V152G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(R157*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
INTU
(R157Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome 17
+2 more
GBenign
INTU
(K168R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(T171A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(V172D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INTU
(I173F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(L182fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
INTU
(R197K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(G203S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(E206K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INTU
(E206D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(V209M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(M220T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
INTU
(G223S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(G223D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
(V230I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(N235S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(D238N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(R246T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(V267A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(T271S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
INTU
(Q276*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(synonymous variant)
not provided
GBenign
INTU
(Y311H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(L314V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
Deletion
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(S334F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(V343M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(V362A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
INTU
(L369*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
INTU
(N370I)
Single nucleotide variant
(missense variant)
not provided
GBenign
INTU
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
INTU
(Y378C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
INTU
(G389S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
(G389D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
INTU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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