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Links from Gene

Items: 1 to 100 of 719

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C5
(Q284P +1 more)
Single nucleotide variant
(missense variant)
C5-related disorder
GUncertain significance
C5
(A1080V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(F1162L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(S898T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(E770G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(N452T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
Deletion
not provided
GPathogenic
C5
Deletion
not provided
GPathogenic
C5
(L275V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(L1582P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(V1525L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(S1264G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(T126I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(L989H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(I6R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
C5
(P60S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C5
(G513S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRD2, C5
+50 more
Copy number loss
not specified
GPathogenic
DMAC1, DMRT1
+769 more
Copy number gain
not specified
GPathogenic
C5
Duplication
(intron variant)
C5-related disorder
GBenign
C5
(F9Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C5
(V397A +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
GLikely benign
C5
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5, C5-OT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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
(R412C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Insertion
(intron variant)
not provided
GLikely benign
C5
(Y1020fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
C5
(E182* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
C5
(W566* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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
GLikely benign
C5
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron 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
(L1161fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(R720Q +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
(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
(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
(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
(synonymous variant)
not provided
GLikely benign
C5
Deletion
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(L1197M +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
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(K63N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
(K1056R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
(L965* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
C5
Single nucleotide variant
(intron 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
(synonymous variant)
not provided
GLikely benign
C5
Deletion
(intron variant)
not provided
GBenign
C5
Insertion
(nonsense)
not provided
GPathogenic
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Microsatellite
(intron variant)
not provided
GUncertain significance
C5
(F362L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(P1435L +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
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
(E1413fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
(G18*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
C5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C5
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
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