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Links from MedGen

Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDCD10
Single nucleotide variant
(synonymous variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(Y91H)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(T77fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(A135D)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(R82fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(I131fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
(inframe_deletion)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(T144fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(L44R)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(I198fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(M20V)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
Single nucleotide variant
(splice acceptor variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(R126M)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
Single nucleotide variant
(synonymous variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
(M26fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 3
GLikely pathogenic
PDCD10
(Y23fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(Y181C)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(K70*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
Single nucleotide variant
(synonymous variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Single nucleotide variant
(splice acceptor variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(A24V)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
Insertion
(intron variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
Deletion
(intron variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
(T177fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(I49del)
Microsatellite
(inframe_deletion)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(V72M)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
(M92fs)
Microsatellite
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
(intron variant)
Cerebral cavernous malformation 3
GBenign
PDCD10
Single nucleotide variant
(synonymous variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
(N104S)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
+1 more
GUncertain significance
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
Deletion
(intron variant)
Cerebral cavernous malformation 3
GBenign
PDCD10
Single nucleotide variant
(synonymous variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(Y152*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(P21fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(Q112fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(N55fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(E54fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(E54*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(F174fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Insertion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(V148fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(S71fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation 3
+1 more
GPathogenic
PDCD10
Deletion
(intron variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
(S71fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Single nucleotide variant
(splice acceptor variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(S193fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
Cerebral cavernous malformation 3
GLikely pathogenic
PDCD10
(K111fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
(N189fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(E140*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 3
GPathogenic
LOC129937857, PDCD10
Single nucleotide variant
(5 prime UTR variant +1 more)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(K186R)
Single nucleotide variant
(missense variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
Single nucleotide variant
(3 prime UTR variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(Q60*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
(splice acceptor variant +2 more)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Duplication
Cerebral cavernous malformation 3
GLikely pathogenic
PDCD10
Single nucleotide variant
(synonymous variant)
Cerebral cavernous malformation 3
GLikely benign
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GBenign
PDCD10
(K132*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 3
GPathogenic
LOC129937855, PDCD10
Deletion
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(R196*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PDCD10
(R95*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PDCD10
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
GUncertain significance
PDCD10
(N195fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic/Likely pathogenic
PDCD10
(Q112fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(S193fs)
Duplication
(frameshift variant)
Cerebral cavernous malformation
+1 more
GPathogenic/Likely pathogenic
PDCD10
(Y170*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PDCD10
Single nucleotide variant
(splice acceptor variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Microsatellite
(splice donor variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Single nucleotide variant
(intron variant)
Cerebral arteriovenous malformation
+6 more
GPathogenic/Likely pathogenic
PDCD10
(R108*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 3
+2 more
GPathogenic
PDCD10
(Q101*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
(E54fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 3
GPathogenic
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
Gnot provided
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
Gnot provided
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
Gnot provided
PDCD10
Deletion
(intron variant)
Cerebral cavernous malformation 3
Gnot provided
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
Gnot provided
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
Gnot provided
PDCD10
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 3
Gnot provided
PDCD10
Duplication
(intron variant)
Cerebral cavernous malformation 3
Gnot provided
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