U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 244

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
ABCG5, ABCG8
+443 more
Copy number gain
See cases
GPathogenic
THADA
(A1910G +2 more)
Single nucleotide variant
(missense variant +1 more)
THADA-related disorder
GLikely benign
THADA
(A1951V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(T1948R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(A1938V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
Single nucleotide variant
(synonymous variant +1 more)
THADA-related disorder
GLikely benign
THADA
(E1926D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(L1863P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(F1854C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(P1849S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(F1845del +2 more)
Microsatellite
(inframe_deletion +1 more)
not provided
GLikely benign
THADA
(S1882C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(F1852S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(H1809Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(K1848R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(V1803M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
THADA
(N1794S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(L1828P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
Single nucleotide variant
(synonymous variant +1 more)
THADA-related disorder
GLikely benign
THADA
(E1784D +2 more)
Single nucleotide variant
(missense variant +1 more)
THADA-related disorder
GBenign
THADA
(V1813M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(S1809C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(P1759A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(P1756L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(V1783I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(A1777T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(F1768V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122757928, THADA
Copy number loss
See cases
GUncertain significance
THADA
(T1724P +2 more)
Single nucleotide variant
(missense variant +1 more)
Meniere disease
GUncertain significance
THADA
(N1719H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(V1751A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(A1747V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(D1705V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(E1700K +2 more)
Single nucleotide variant
(missense variant +1 more)
THADA-related disorder
GLikely benign
THADA
(L1693F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(W1689S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
Single nucleotide variant
(intron variant)
THADA-related disorder
GLikely benign
THADA
(L1671V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(E1703K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(V1701I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(E1656Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(E1673D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
THADA
(V1628M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(C1627R +2 more)
Single nucleotide variant
(missense variant +1 more)
THADA-related disorder
GBenign
THADA
(M1624R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(H1663Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(M1638T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(W1596* +2 more)
Single nucleotide variant
(nonsense +1 more)
Meniere disease
GUncertain significance
THADA
Single nucleotide variant
(synonymous variant +1 more)
THADA-related disorder
GLikely benign
LOC122757928, THADA
(P1582A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122757928, THADA
(A1529V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122757928, THADA
(R1516C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122757928, THADA
(S1503C +2 more)
Single nucleotide variant
(missense variant +1 more)
THADA-related disorder
GBenign
LOC122757928, THADA
(R1496Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC122757928, THADA
(A1529V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC122757928, THADA
(A1484S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122757928, THADA
(A1482V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122757928, THADA
(P1510A +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126806203, LOC129933610
+11 more
Copy number loss
See cases
GUncertain significance
THADA
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
THADA
(N1430S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
Single nucleotide variant
(synonymous variant +1 more)
THADA-related disorder
GLikely benign
THADA
(P1410S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
THADA
(L1402F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
THADA
(C1438Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(I1394V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
THADA
(D1427G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(T1383M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
THADA
Single nucleotide variant
(synonymous variant +1 more)
THADA-related disorder
GBenign
THADA
(Q1414R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(R1398W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(D1395H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(T1344S +2 more)
Single nucleotide variant
(missense variant +1 more)
THADA-related disorder
GBenign
THADA
Single nucleotide variant
(synonymous variant +1 more)
THADA-related disorder
GLikely benign
THADA
(N1340H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(M1374V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(R1312S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC126806203, LOC129933615
+6 more
Copy number loss
See cases
GUncertain significance
THADA
(L1342R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(S1299del +2 more)
Microsatellite
(non-coding transcript variant)
THADA-related disorder
GBenign
THADA
(M1334I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(A1332T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
Single nucleotide variant
(synonymous variant +1 more)
THADA-related disorder
GLikely benign
THADA
(R1328G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(V1326M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(S1318N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(P1277S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(P1293S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(R1287H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(S1246P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(A1258S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(S1212Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
Single nucleotide variant
(intron variant)
THADA-related disorder
GBenign
THADA
(P1244L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(I1198F +3 more)
Single nucleotide variant
(missense variant +1 more)
Meniere disease
GUncertain significance
THADA
(E1224K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THADA
(P1206S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination