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Items: 1 to 100 of 179

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
MIR4503, MIR624
+399 more
Copy number loss
See cases
GPathogenic
AKAP6, AP4S1
+179 more
Copy number loss
See cases
GPathogenic
INSM2, KLHL28
+237 more
Copy number gain
See cases
GPathogenic
LOC126861917, LOC126861918
+225 more
Copy number loss
See cases
GPathogenic
BAZ1A, BAZ1A-AS1
+88 more
Copy number loss
See cases
GUncertain significance
BAZ1A, BAZ1A-AS1
+156 more
Copy number loss
See cases
GPathogenic
BRMS1L, CLEC14A
+113 more
Copy number loss
See cases
GPathogenic
BRMS1L, INSM2
+26 more
Copy number loss
See cases
GPathogenic
RALGAPA1
(M2061T +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(Q2098H +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(S2036F +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(H2020N +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(R1999P +4 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
GLikely benign
RALGAPA1
(A1987T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(N1964K +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RALGAPA1
(F1953L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(E2456G +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(S1911* +4 more)
Single nucleotide variant
(nonsense)
Infantile spasms
+3 more
GPathogenic
RALGAPA1
(M1886I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(F1880fs +4 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
GLikely pathogenic
RALGAPA1
(T1867A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(N2309K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
RALGAPA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RALGAPA1
Duplication
(intron variant)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
GBenign
RALGAPA1
(M1821L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(L1785F +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(I1771T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(A2220P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(P1758L +4 more)
Single nucleotide variant
(missense variant)
RALGAPA1-related disorder
GLikely benign
RALGAPA1
Single nucleotide variant
(synonymous variant)
RALGAPA1-related disorder
GLikely benign
RALGAPA1
(I1674V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(F1711fs +4 more)
Deletion
(frameshift variant)
Infantile spasms
+3 more
GPathogenic
RALGAPA1
(D1655G +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RALGAPA1
(P1689L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(E1640K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RALGAPA1
(G1630S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(C1570Y +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPA1
(T1543K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(N1528S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(R1507H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
Duplication
(intron variant)
RALGAPA1-related disorder
GLikely benign
BRMS1L, LINC00609
+12 more
Copy number gain
See cases
GUncertain significance
RALGAPA1
(H1940R +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(L1402S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(M1413V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(P1374R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPA1
(I1366V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
Deletion
(intron variant)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
GBenign
RALGAPA1
(M1342V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(Q1313* +4 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
RALGAPA1
(P1312S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPA1
(V1319I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(L1294I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
RALGAPA1
(C1249Y +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPA1
(Y1707H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(L1254S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(L1181H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(M1176* +4 more)
Microsatellite
(nonsense)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
GLikely pathogenic
RALGAPA1
(I1222V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(Y1149F +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(M1183I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(L1167F +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(D1080N +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RALGAPA1
(I1078V +4 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
GUncertain significance
RALGAPA1
(N1535S +4 more)
Single nucleotide variant
(missense variant)
Infantile spasms
+3 more
GPathogenic
RALGAPA1
(M1064T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPA1
(E1056Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(E1022G +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RALGAPA1
(H1471Y +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(P1016S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(S994P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(E1000K +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(A1484T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(S1444P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(D1391Y +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(T1390A +4 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
GBenign
RALGAPA1
(Y1378H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(S1370L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPA1
(A1356T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(T1353S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(R929L +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RALGAPA1
(M1314I +4 more)
Single nucleotide variant
(missense variant)
RALGAPA1-related disorder
+1 more
GUncertain significance
RALGAPA1
(A1311V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RALGAPA1
(P1295S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(V848A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(N1293I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(G1336A +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RALGAPA1
(G829V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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