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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRIT1
(D318fs +1 more)
Deletion
(frameshift variant +1 more)
Cerebral cavernous malformation 1
GPathogenic
KRIT1
(W286* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cerebral cavernous malformation 1
GPathogenic
KRIT1
(Q283* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 1
+1 more
GPathogenic/Likely pathogenic
PDCD10
(R45fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 1
GPathogenic
KRIT1
(Q407fs +2 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
KRIT1
(C329* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cerebral cavernous malformation 1
GPathogenic
KRIT1
(Q201E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
KRIT1
(D137G)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation
GLikely pathogenic
KRIT1
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation
+1 more
GPathogenic
KRIT1
(Q407* +2 more)
Single nucleotide variant
(nonsense)
KRIT1-related condition
+3 more
GPathogenic
KRIT1
(R385fs +2 more)
Duplication
(frameshift variant)
Cerebral cavernous malformation 1
GPathogenic
KRIT1
(K409fs +2 more)
Deletion
(frameshift variant)
Cerebral cavernous malformation 1
GPathogenic
KRIT1
(Q389* +2 more)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation
GPathogenic
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