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Items: 1 to 100 of 719

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
C5, C5-OT1
+9 more
Copy number loss
See cases
GUncertain significance
C5, C5-OT1
+99 more
Copy number loss
See cases
GPathogenic
C5, C5-OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
Complement component 5 deficiency
+2 more
GLikely benign
C5, C5-OT1
(G1675E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
C5-OT1, C5
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
C5, C5-OT1
(I1677V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GUncertain significance
C5, C5-OT1
(E1675K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GUncertain significance
C5, C5-OT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C5, C5-OT1
(E1666K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
C5, C5-OT1
(A1668V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
C5, C5-OT1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
C5, C5-OT1
(R1650K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
C5
(W1650C +1 more)
Single nucleotide variant
(missense variant)
Eculizumab, poor response to
+2 more
GUncertain significance
C5
(L1642V +1 more)
Single nucleotide variant
(missense variant)
Eculizumab, poor response to
+2 more
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(P1644S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
C5
(L1631fs +1 more)
Indel
(frameshift variant)
Complement component 5 deficiency
GPathogenic
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(A1609D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(N1608K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
C5
(F1600S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
C5
(V1591I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Microsatellite
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
C5
(L1582P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(N1572D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
C5
(E1571K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(T1569A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C5
(T1566I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(I1571V +1 more)
Single nucleotide variant
(missense variant)
Complement component 5 deficiency
+3 more
GUncertain significance
C5
(S1570N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(K1562E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(splice acceptor variant)
Eculizumab, poor response to
+2 more
GLikely pathogenic
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
(Y1559C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(A1558V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(A1564E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(E1562D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(E1556G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(A1552T +1 more)
Single nucleotide variant
(missense variant)
Complement component 5 deficiency
+1 more
GUncertain significance
C5
(T1557I +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(A1536G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C5
(E1529A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(V1528L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(A1524T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(A1529G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(C1520Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(V1525L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(N1519S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
Eculizumab, poor response to
+2 more
GUncertain significance
C5
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
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