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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRIT1
(S469fs +2 more)
Deletion
(frameshift variant)
Cerebral cavernous malformation
GPathogenic
KRIT1
(K444fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
KRIT1
Single nucleotide variant
(synonymous variant)
Angiokeratoma corporis diffusum with arteriovenous fistulas
+3 more
GBenign
KRIT1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
KRIT1
(S192fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
KRIT1
(I415M +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
KRIT1
(G151fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
KRIT1
(Q66*)
Single nucleotide variant
(nonsense +1 more)
Cerebral cavernous malformation
GPathogenic
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