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Items: 1 to 100 of 344

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
ABCA13, ADCY1
+380 more
Copy number loss
See cases
GPathogenic
AEBP1, AMPH
+288 more
Copy number loss
See cases
GPathogenic
AEBP1, BLVRA
+231 more
Copy number loss
See cases
GPathogenic
SNORA5A, SNORA5B
+212 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+317 more
Copy number loss
See cases
GPathogenic
LOC126860033, LOC126860034
+426 more
Copy number loss
See cases
GPathogenic
ADCY1, CAMK2B
+95 more
Copy number loss
See cases
GPathogenic
CCM2, DDX56
+58 more
Copy number gain
See cases
GUncertain significance
LOC113748397, LOC113748398
+200 more
Copy number loss
See cases
GPathogenic
CCM2
Single nucleotide variant
Cerebral cavernous malformation 2
Gnot provided
CCM2, LOC129998395
Insertion
(genic upstream transcript variant)
not provided
GBenign
CCM2, LOC129998395
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
CCM2, LOC129998395
Duplication
(5 prime UTR variant)
not specified
GLikely benign
CCM2, LOC129998395
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
CCM2, LOC129998395
(E3*)
Single nucleotide variant
(nonsense)
Cerebral cavernous malformation 2
GLikely pathogenic
CCM2, LOC129998395
(G8fs)
Deletion
(frameshift variant)
Cerebral cavernous malformation 2
GPathogenic
CCM2, LOC129998395
(K10N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CCM2, LOC129998395
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CCM2, LOC129998395
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation 2
+1 more
GPathogenic
CCM2, LOC129998395
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GUncertain significance
CCM2, LOC129998395
Indel
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CCM2, LOC129998395
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CCM2, LOC129998395
Single nucleotide variant
(intron variant)
not specified
GBenign
CCM2, LOC129998395
Insertion
(intron variant)
not provided
GBenign
CCM2, LOC129998395
Single nucleotide variant
(intron variant)
not provided
GBenign
CCM2, LOC129998395
Insertion
(intron variant)
not provided
GBenign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
Gnot provided
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
Gnot provided
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
Gnot provided
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
Gnot provided
CCM2
Single nucleotide variant
(intron variant)
not provided
GBenign
CCM2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
CCM2, LOC129998398
+2 more
Deletion
Cerebral cavernous malformation 2
GPathogenic
CCM2
(P18R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
CCM2-related condition
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
CCM2-related condition
GUncertain significance
CCM2
Single nucleotide variant
(splice acceptor variant +1 more)
Cerebral cavernous malformation 2
GLikely pathogenic
CCM2
Single nucleotide variant
(splice acceptor variant +1 more)
Cerebral cavernous malformation 2
GLikely pathogenic
CCM2, LOC132090779
Deletion
Cerebral cavernous malformation 2
GPathogenic
CCM2
Insertion
(nonsense +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Indel
(nonsense +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
(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
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(R19* +1 more)
Single nucleotide variant
(nonsense +2 more)
Cerebral cavernous malformation 2
+2 more
GPathogenic
CCM2
(V20I +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CCM2
(G45fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
CCM2
Microsatellite
(nonsense +2 more)
not provided
GLikely pathogenic
CCM2
(R28fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(A32fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(K31N +1 more)
Single nucleotide variant
(missense variant +2 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(H54fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(P41fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+2 more
GLikely benign
CCM2
(T44fs +1 more)
Microsatellite
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(T65S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CCM2
(V66fs +1 more)
Microsatellite
(frameshift variant +2 more)
not provided
GLikely pathogenic
CCM2
(L49fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation
GPathogenic
CCM2
(E51* +1 more)
Single nucleotide variant
(nonsense +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(E51D +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(V53I +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GBenign
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
GLikely benign
CCM2
(E54* +1 more)
Single nucleotide variant
(nonsense +2 more)
CCM2-related condition
GLikely pathogenic
CCM2
(E54K +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CCM2
(P55fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous angioma
+1 more
GLikely pathogenic
CCM2
(R78fs +1 more)
Microsatellite
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
CCM2
(D56fs +1 more)
Deletion
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(R57* +1 more)
Single nucleotide variant
(nonsense +2 more)
Cerebral cavernous malformation 2
+1 more
GPathogenic/Likely pathogenic
CCM2
(L59fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+1 more
GLikely benign
CCM2
(K65del +1 more)
Deletion
(inframe_deletion +2 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
(E66fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
GPathogenic
CCM2
(V67fs +1 more)
Duplication
(frameshift variant +2 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
Gnot provided
LOC129998399, LOC129998400
+27 more
Indel
Cerebral cavernous malformation 2
GPathogenic
CCM2
Deletion
(intron variant)
Cerebral cavernous malformation 2
Gnot provided
CCM2
Single nucleotide variant
(intron variant)
not provided
GBenign
CCM2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CCM2
Single nucleotide variant
(intron variant)
Cerebral cavernous malformation 2
GLikely benign
CCM2
(Q72* +2 more)
Single nucleotide variant
(nonsense +1 more)
Cerebral cavernous malformation 2
+1 more
GPathogenic
CCM2
(L73fs +2 more)
Deletion
(frameshift variant +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
Single nucleotide variant
(synonymous variant +1 more)
Cerebral cavernous malformation 2
+2 more
GBenign/Likely benign
CCM2
(I18L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCM2
(P19fs +2 more)
Duplication
(frameshift variant +1 more)
Cerebral cavernous malformation 2
GPathogenic
CCM2
(Y100fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CCM2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
CCM2
(N36S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCM2
(K96N +2 more)
Single nucleotide variant
(missense variant +1 more)
Cerebral cavernous malformation 2
GUncertain significance
CCM2
Single nucleotide variant
(splice donor variant)
Cerebral cavernous malformation 2
GPathogenic
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