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Items: 1 to 100 of 1874

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129936377, LOC129936378
+1111 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+730 more
Copy number gain
See cases
GPathogenic
LOC129936460, LOC129936461
+176 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+51 more
Deletion
Brugada syndrome
GPathogenic
SCN10A, LOC110121288
+3 more
Deletion
Brugada syndrome
GPathogenic
SCN10A
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SCN10A
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
SCN10A
(P1956T +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN10A
(G1955R +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
(A1952G +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(A1952V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(M1949K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(E1945G +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+2 more
GBenign/Likely benign
SCN10A
(E1942* +2 more)
Single nucleotide variant
(nonsense)
Brugada syndrome
GUncertain significance
SCN10A
(I1842M +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(S1936P +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(R1934K +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN10A
(R1833fs +2 more)
Duplication
(frameshift variant)
Brugada syndrome
GUncertain significance
SCN10A
(D1832V +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GLikely benign
SCN10A
(D1929N +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(G1926S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
SCN10A
(T1924I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(E1824K +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GConflicting classifications of pathogenicity
SCN10A
(Y1920F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
SCN10A
(P1919L +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(A1912S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
SCN10A
(T1910S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
SCN10A
(K1908N +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
(V1904A +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(N1902T +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
(N1802K +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
SCN10A
(N1802S +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
(N1900D +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
(A1899fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCN10A
(T1898I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN10A
(F1799Y +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
SCN10A
(V1895F +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+1 more
GLikely benign
SCN10A
(G1892S +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCN10A
(D1891Y +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(S1790T +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+1 more
GLikely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN10A
(A1886V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
SCN10A
(A1788T +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(V1781L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(P1779L +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
SCN10A
(P1876S +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
+1 more
GBenign/Likely benign
SCN10A
(T1876A +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(L1775F +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(M1773I +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN10A
(M1870V +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(R1771H +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
SCN10A
(R1869C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN10A
(H1868P +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GLikely benign
SCN10A
(L1769R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
SCN10A
(Y1767S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(Y1767C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
SCN10A
(R1765Q +2 more)
Single nucleotide variant
(missense variant)
Episodic pain syndrome, familial, 2
+2 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCN10A
(R1765G +2 more)
Single nucleotide variant
(missense variant)
Episodic pain syndrome, familial, 2
GUncertain significance
SCN10A
(R1765W +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+1 more
GUncertain significance
SCN10A
Single nucleotide variant
(synonymous variant)
Brugada syndrome
GLikely benign
SCN10A
(A1860S +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(Q1761P +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN10A
(A1855P +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(S1756P +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(D1754H +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
SCN10A
(E1753K +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
(Q1752E +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
+2 more
GUncertain significance
SCN10A
(Q1850* +2 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
SCN10A
(W1750R +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
SCN10A
(R1847Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN10A
(R1847* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GUncertain significance
SCN10A
(L1748I +2 more)
Single nucleotide variant
(missense variant)
Brugada syndrome
GUncertain significance
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