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Links from Gene

Items: 1 to 100 of 292

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFD
(G52D +1 more)
Single nucleotide variant
(missense variant)
Recurrent Neisseria infections due to factor D deficiency
GUncertain significance
CFD
(K234E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(T178I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(W254S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(P218L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(W160R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(A158G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(A107T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCA7, ARHGAP45
+37 more
Copy number loss
not specified
GPathogenic
ABCA7, ARHGAP45
+34 more
Copy number gain
not specified
GUncertain significance
CFD
Single nucleotide variant
(5 prime UTR variant)
CFD-related disorder
GLikely benign
CFD
(E198G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(A100V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(Q44fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CFD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Duplication
(intron variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(E21A)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CFD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFD
(R234S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBD3L3, MBD3L4
+202 more
Copy number gain
not provided
GPathogenic
CFD
(A82V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(S165R +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CFD
(L133P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(P172L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLE5, TLE6
+151 more
Duplication
not provided
GUncertain significance
ABCA7, ABHD17A
+61 more
Duplication
Neutropenia, severe congenital, 1, autosomal dominant
+1 more
GUncertain significance
CFD
Deletion
not provided
GUncertain significance
ABCA7, ABHD17A
+138 more
Duplication
not provided
GUncertain significance
CFD
(R232P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(A48T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
CFD
(V78F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(S250N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(S98P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(A64V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(H42Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(C58R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(T190I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(G59S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
(E89D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(E31D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(A195T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CFD
(E191Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(C195Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(L178S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(I189M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(W135L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(S203N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CFD
(D186V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(A143V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFD
Indel
(splice acceptor variant)
not provided
GLikely pathogenic
CFD
(N231K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(A100P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFD
(L27V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(A72V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(W254L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(A41E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(H185Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(I26S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
CFD
(P235H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(G14*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CFD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CFD
(H168Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFD
(A20T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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