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Links from MedGen

Items: 90

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
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
ANKIB1, KRIT1
+1 more
Single nucleotide variant
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
(Y252C +1 more)
Single nucleotide variant
(missense variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(intron variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(intron 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
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
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)
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
ANKIB1, KRIT1
+1 more
Single nucleotide variant
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
ANKIB1, KRIT1
+1 more
Single nucleotide variant
(5 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
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
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1, LOC113748416
Single nucleotide variant
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1, LOC113748416
Single nucleotide variant
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
(R16C)
Single nucleotide variant
(missense variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GConflicting classifications of pathogenicity
KRIT1
(H145R +2 more)
Single nucleotide variant
(missense variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
(K46E)
Single nucleotide variant
(missense variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
(K77R)
Single nucleotide variant
(missense variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(synonymous 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
(synonymous variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(synonymous variant)
Cerebral cavernous malformation
+3 more
GConflicting classifications of pathogenicity
KRIT1
(T151A)
Single nucleotide variant
(missense variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
ANKIB1, KRIT1
+1 more
Microsatellite
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
ANKIB1, KRIT1
+1 more
Single nucleotide variant
(5 prime UTR variant)
Cerebral cavernous malformation
+1 more
GBenign
ANKIB1, KRIT1
+1 more
Single nucleotide variant
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GBenign/Likely benign
KRIT1, LOC113748416
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
ANKIB1, KRIT1
+1 more
Single nucleotide variant
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+2 more
GBenign
KRIT1, LOC113748416
Single nucleotide variant
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1, LOC113748416
Single nucleotide variant
(5 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1, LOC113748416
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1, LOC113748416
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cerebral cavernous malformation
+1 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(5 prime UTR variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation
+2 more
GBenign/Likely benign
KRIT1
(R26Q)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation
+2 more
GBenign/Likely benign
KRIT1
(G101V)
Single nucleotide variant
(missense variant +1 more)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+1 more
GBenign/Likely benign
KRIT1
Duplication
(intron variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+3 more
GBenign/Likely benign
KRIT1
(L355F +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
+1 more
GConflicting classifications of pathogenicity
KRIT1
(T380M +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
+1 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation
+1 more
GBenign/Likely benign
KRIT1
(I415M +2 more)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation
+3 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
KRIT1
Microsatellite
(inframe_deletion)
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)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+3 more
GConflicting classifications of pathogenicity
KRIT1
Deletion
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+3 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+3 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+2 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GBenign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GUncertain significance
KRIT1
Insertion
(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
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)
Cerebral cavernous malformation
+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)
not provided
+2 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation
+1 more
GBenign
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)
Cerebral cavernous malformation
+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
GBenign/Likely benign
KRIT1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
KRIT1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
KRIT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
KRIT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
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