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Items: 1 to 100 of 8375

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ROBO4
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
ROBO4
(R402Q +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ROBO4
(R402W +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
ROBO4
(S390P +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ROBO4
(W379R +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ROBO4
(H345D +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
ROBO4
(R322Q +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
ROBO4
(V239I +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
ROBO4
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
ROBO4
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
RBM20
(Q313fs)
Duplication
(frameshift variant)
Cardiomyopathy
GUncertain significance
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
RBM20
(I1090fs)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1DD
+1 more
GUncertain significance
RBM20
(A87T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
RBM20
(E685fs)
Microsatellite
(frameshift variant)
Cardiomyopathy
GUncertain significance
RBM20
Indel
(missense variant)
Cardiomyopathy
GPathogenic
RBM20
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
PTEN
(K183* +1 more)
Duplication
(nonsense +1 more)
Breast and/or ovarian cancer
GLikely pathogenic
LOC129999660, PRKAG2
(M118K +6 more)
Single nucleotide variant
(missense variant +2 more)
Cardiomyopathy
GUncertain significance
PMS2
(G201V +19 more)
Single nucleotide variant
(missense variant +2 more)
Breast and/or ovarian cancer
GUncertain significance
PKP2
(S82R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cardiomyopathy
GUncertain significance
PALB2
(D169fs +3 more)
Duplication
(frameshift variant +1 more)
Breast and/or ovarian cancer
GLikely pathogenic
NOTCH1
(N320S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
(R203S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NOTCH1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
NEXN
(S15P)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
+1 more
GLikely benign
MYL3
(T14A +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
MYH7
(F312V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
MYH7
(L1342R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
ATM, C11orf65
Single nucleotide variant
(synonymous variant +1 more)
Breast and/or ovarian cancer
GLikely benign
LOC126861898, MYH7
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LOC126861898, MYH7
(W827R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYH7
(N589del)
Microsatellite
(inframe_deletion)
Cardiomyopathy
GUncertain significance
MYH7
(M357I)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYH11
(N249S +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11, NDE1
(A1818L +1 more)
Indel
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11
(I154S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11
(V87A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYH11
(Q557H +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MYBPC3
(E32fs)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
MYBPC3
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(A877V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(A848fs)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
MYBPC3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
MYBPC3
Single nucleotide variant
(splice acceptor variant)
Cardiomyopathy
GPathogenic
MYBPC3
(Y434H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
MYBPC3
(I423*)
Insertion
(nonsense)
Cardiomyopathy
GPathogenic
MSH6
Single nucleotide variant
(5 prime UTR variant +3 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GLikely benign
ATM
(K1543E)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
GUncertain significance
LOX, SRFBP1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOX, SRFBP1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOX, SRFBP1
(R98S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOX, SRFBP1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LMNA
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LMNA
(M137fs +5 more)
Duplication
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
JUP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
JUP
(A178T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
FLNC
(P295A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
FLNC, FLNC-AS1
(V2463fs +1 more)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
FLNC, FLNC-AS1
(K2010N +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
FLNC
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
GLikely pathogenic
FLNC
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
FLNC
(G771fs)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
FLNC
(D723G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
FLNC
(L60P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
FLNC
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 26
+4 more
GLikely benign
LOC113939944, FBN1
(V331fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(S293fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(R2792fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(I2475M)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(C1617fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1, LOC126862124
(C1444R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
(C670S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1, LOC113939944
(A373fs)
Deletion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
DSP
(T1243S +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(Q1774fs)
Deletion
(frameshift variant +1 more)
Cardiomyopathy
GLikely pathogenic
DSP
(L1249V)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(E1151*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GLikely pathogenic
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
Duplication
(intron variant)
Cardiomyopathy
GBenign
DSG2
(I353T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSC2
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
GLikely pathogenic
DES
(W205R +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DES
(Y191N +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DES
(M256L +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
COL3A1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
COL3A1
(A709T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
CHEK2
(G202fs +4 more)
Duplication
(frameshift variant)
Breast and/or ovarian cancer
GLikely pathogenic
ATM
(L804R)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
GUncertain significance
CDH1
Single nucleotide variant
(intron variant)
Breast and/or ovarian cancer
GUncertain significance
BRIP1
(H213fs)
Deletion
(frameshift variant)
Breast and/or ovarian cancer
+2 more
GPathogenic/Likely pathogenic
BRIP1
(E671fs)
Deletion
(frameshift variant)
Breast and/or ovarian cancer
GLikely pathogenic
BRCA2
(S1354A +3 more)
Single nucleotide variant
(missense variant +2 more)
Breast and/or ovarian cancer
GUncertain significance
BRCA2
(T1236K +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
GUncertain significance
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