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Links from Gene

Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GIT1, TP53I13
(R256W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(M453I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(A594G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(R555Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(Q223L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(A560T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(R487W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(P405T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(E259K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(A183G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(Y710C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(F624Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(S570A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(V547L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(L531P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(F519Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(V386M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(L367P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Single nucleotide variant
(intron variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GBenign
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Microsatellite
(3 prime UTR variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
GIT1-related disorder
GLikely benign
GIT1, TP53I13
(R472Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GIT1, TP53I13
(D597A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(G612W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(T584M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(I356V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(A707T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(A488V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(A320V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(R455Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(A497T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(R409Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(L492F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(L186V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(S423L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(I247V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(R555W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GIT1, TP53I13
(G524fs +1 more)
Duplication
(frameshift variant)
Developmental disorder
GUncertain significance
GIT1, TP53I13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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