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Items: 1 to 100 of 52920

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(T2733A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(D2743N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(N2750T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(P2835T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
DSP
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
GUncertain significance
DSP
(H2272Y +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(T2254I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(R2842L +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(G2237A +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSP
Insertion
(inframe_insertion)
Cardiomyopathy
GUncertain significance
DSP
(G2385C +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(N2219I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(D2197N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSP
(M2350I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(L2338F +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(A2151G +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
APC
(I1839fs +18 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
DSP
(W2118C +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(E2100K +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
DSP
(Q2093fs +2 more)
Deletion
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
APC
(Q1775R +18 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
DSP
(D2074V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(F2543Y +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(R2073T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(C1898S +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(Q2037* +2 more)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+1 more
GLikely pathogenic
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(K1992E +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(L1981F +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
APC
(Q1544K +18 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
DSP
(A1892V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(S1732C +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(I1702V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(A1697T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
DSP
(G1804D +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
DSP
(T1619I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(M1609L +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(K1737fs +2 more)
Deletion
(frameshift variant)
Cardiomyopathy
+1 more
GLikely pathogenic
DSP
(D1575N +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(S1562F +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(A2127V +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
(D1654A +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(I2059T +2 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
APC
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely benign
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(G1417E +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
(R1344I +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
DSP
(I1496T +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
DSP
Microsatellite
(nonsense +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GLikely pathogenic
DSP
(Q1267R +2 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
APC
(N1743K +18 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
DSP
Single nucleotide variant
(intron variant)
Cardiomyopathy
GLikely benign
DSP
Single nucleotide variant
(synonymous variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GLikely benign
DSP
(E1776K)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(Q1774R)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(Q1767*)
Single nucleotide variant
(nonsense +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GPathogenic
DSP
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
DSP
(Q1707R)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
DSP
(E1662K)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(L1640R)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
DSP
(K1627del)
Microsatellite
(inframe_deletion +1 more)
Cardiomyopathy
GUncertain significance
DSP
(K1626fs)
Deletion
(frameshift variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+2 more
GPathogenic
DSP
(Q1560E)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(N1518fs)
Deletion
(frameshift variant +1 more)
Cardiomyopathy
GPathogenic
DSP
(Y1512*)
Single nucleotide variant
(nonsense +1 more)
Cardiomyopathy
GPathogenic
DSP
(R1497P)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(R1452I)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(Q1446R)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+3 more
GUncertain significance
DSP
(S1441C)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
GLikely benign
DSP
(T1420I)
Single nucleotide variant
(intron variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(Q1418E)
Single nucleotide variant
(missense variant +1 more)
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
DSP
(R1341L)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSP
(L1330H)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(R1329G)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(R1269G)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+1 more
GUncertain significance
DSP
(T1264A)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
DSP
(I1253F)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
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