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Items: 1 to 100 of 660

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Duplication
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign
KRIT1
Insertion
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+2 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GBenign
KRIT1
Deletion
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(3 prime UTR variant)
KRIT1-related disorder
GLikely benign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
(S498L +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
GLikely benign
KRIT1
(M682T +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
GUncertain significance
KRIT1
(L674* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
GUncertain significance
KRIT1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KRIT1
(V481L +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
GUncertain significance
KRIT1
(V718M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(synonymous variant)
KRIT1-related disorder
GLikely benign
KRIT1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
KRIT1
Single nucleotide variant
(splice acceptor variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
Single nucleotide variant
(splice acceptor variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
Deletion
(splice donor variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
Duplication
(splice donor variant)
not provided
GLikely pathogenic
KRIT1
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation
GLikely pathogenic
KRIT1
(Q476* +2 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
KRIT1
(K475fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
KRIT1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
KRIT1
(T474fs +2 more)
Deletion
(frameshift variant)
Cerebral cavernous malformation
GLikely pathogenic
KRIT1
(F470* +2 more)
Insertion
(nonsense)
Cerebral cavernous malformation
GPathogenic
KRIT1
(S469fs +2 more)
Deletion
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(M468V +2 more)
Single nucleotide variant
(missense variant)
KRIT1-related disorder
GUncertain significance
KRIT1
(K467* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
GPathogenic
KRIT1
(M654V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KRIT1
(S463fs +2 more)
Duplication
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(S701N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
KRIT1
(Q698* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
+1 more
GPathogenic
KRIT1
(C458S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KRIT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
KRIT1
Microsatellite
(inframe_deletion)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
(T695fs +2 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
KRIT1
(G453fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
KRIT1
(D456fs +2 more)
Deletion
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(L452M +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRIT1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
KRIT1
(Q451* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
GPathogenic
KRIT1
(W450* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
GPathogenic
KRIT1
(M687I +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
GUncertain significance
KRIT1
(F448fs +2 more)
Deletion
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(C685R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRIT1
(Y445* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
GPathogenic
KRIT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
KRIT1
(K444* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
GPathogenic
KRIT1
(K634Q +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
+2 more
GConflicting classifications of pathogenicity
KRIT1
(K444fs +2 more)
Deletion
(frameshift variant)
Cerebral cavernous malformation
+1 more
GPathogenic/Likely pathogenic
KRIT1
(S632fs +2 more)
Duplication
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(L629fs +2 more)
Duplication
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(L629* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
GPathogenic
KRIT1
Duplication
Cerebral cavernous malformation
GPathogenic
KRIT1
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation
+1 more
GPathogenic/Likely pathogenic
KRIT1
Deletion
(intron variant)
Cerebral cavernous malformation
GLikely benign
KRIT1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KRIT1
Deletion
Cerebral cavernous malformation
GPathogenic
KRIT1
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
KRIT1
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(K437N +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
GUncertain significance
KRIT1
(K437fs +2 more)
Deletion
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(M434V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRIT1
(M434L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KRIT1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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