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Links from MedGen

Items: 1 to 100 of 198

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCM2
Single nucleotide variant
(splice acceptor variant)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Deletion
Cerebral cavernous malformation 2
GPathogenic
ADCY1, CCDC201
+27 more
Indel
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(N310D +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(I314T +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(V129F +2 more)
Single nucleotide variant
(missense variant +2 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(D56fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(Q109* +2 more)
Single nucleotide variant
(nonsense +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(V84I +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(I247S +2 more)
Single nucleotide variant
(missense variant +2 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(D198N +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(V166G +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2, LOC129998395
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(I273T +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(C232fs +2 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(I105V +2 more)
Single nucleotide variant
(missense variant +2 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(Q239* +2 more)
Single nucleotide variant
(nonsense +2 more)
Cerebral cavernous malformation 2
+1 more
GPathogenic
CCM2
(G360R +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(splice acceptor variant +1 more)
Cerebral cavernous malformation 2
GLikely pathogenic
CCM2
(Q167fs +2 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(K177fs +2 more)
Deletion
(frameshift variant +1 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation 2
GLikely pathogenic
CCM2
(A123P +2 more)
Single nucleotide variant
Cerebral cavernous malformation 2
GPathogenic
CCM2
(L122R +2 more)
Single nucleotide variant
Cerebral cavernous malformation 2
GPathogenic
CCM2
(L198P +2 more)
Single nucleotide variant
Cerebral cavernous malformation 2
GPathogenic
CCM2
(L113P +2 more)
Single nucleotide variant
not provided
GPathogenic
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GBenign
CCM2
Deletion
Cerebral cavernous malformation 2
GPathogenic
CCM2
Deletion
Cerebral cavernous malformation 2
GPathogenic
CCM2
Deletion
Cerebral cavernous malformation 2
GPathogenic
CCM2
(Q424R +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
+1 more
GUncertain significance
CCM2
(A229S +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(K292R +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GBenign
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(Q218fs +2 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(V141N +2 more)
Indel
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Deletion
(nonsense +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(R167W +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(K96N +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(F17fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation 2
GLikely pathogenic
CCM2
(W124fs +2 more)
Duplication
(frameshift variant +1 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(V67fs +1 more)
Duplication
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Indel
(nonsense +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(K31N +1 more)
Single nucleotide variant
(missense variant +2 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+1 more
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+1 more
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
+1 more
GLikely benign
CCM2
Single nucleotide variant
(splice acceptor variant)
Cerebral cavernous malformation 2
GLikely pathogenic
CCM2
(A204T +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GBenign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GBenign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(C290F +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(T222M +2 more)
Single nucleotide variant
(missense variant +2 more)
Cerebral cavernous malformation 2
+2 more
GConflicting classifications of pathogenicity
CCM2
(V283M +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
+1 more
GUncertain significance
CCM2
(T303A +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(R28fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Duplication
(nonsense +1 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(T16M +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(H385R +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CCM2
(S371F +5 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Deletion
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
+1 more
GConflicting classifications of pathogenicity
CCM2
(L119fs +2 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(I197L +2 more)
Single nucleotide variant
(missense variant +2 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(A128T +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
CCM2
Single nucleotide variant
(splice acceptor variant +1 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(A32fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(G176S +2 more)
Single nucleotide variant
(missense variant +2 more)
Cerebral cavernous malformation 2
GUncertain significance
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