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Items: 1 to 100 of 511

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD18, ADAD1
+661 more
Copy number gain
See cases
GPathogenic
AIMP1, CASP6
+106 more
Copy number gain
See cases
GPathogenic
CFI
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CFI
Single nucleotide variant
(3 prime UTR variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GBenign
CFI
Single nucleotide variant
(3 prime UTR variant +2 more)
Factor I deficiency
+2 more
GBenign
CFI
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GBenign
CFI
Single nucleotide variant
(stop lost +2 more)
not provided
GUncertain significance
CFI
(Q377R +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(I375T +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(P373S +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
CFI
(G555fs +4 more)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
CFI
(S570T +4 more)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(D548V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(N361K +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(K358N +4 more)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
CFI
(E554V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CFI
(P553S +4 more)
Single nucleotide variant
(missense variant +2 more)
CFI-related disorder
+2 more
GBenign/Likely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
Age related macular degeneration 13
+3 more
GLikely benign
CFI
(C347fs +4 more)
Microsatellite
(frameshift variant +2 more)
not provided
GLikely pathogenic
CFI
(N346fs +4 more)
Deletion
(frameshift variant +2 more)
CFI-related disorder
GLikely pathogenic
CFI
(E345D +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(E345G +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(E529fs +4 more)
Deletion
(frameshift variant +2 more)
not provided
GUncertain significance
CFI
(E548Q +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CFI
(W343* +4 more)
Single nucleotide variant
(nonsense +2 more)
Age related macular degeneration 13
+2 more
GLikely pathogenic
CFI
(W546* +4 more)
Single nucleotide variant
(nonsense +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
Grisk factor
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
(G535S +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(W534* +4 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
(A534V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(M513V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(P325L +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GBenign/Likely benign
CFI
(G324V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
(G323* +4 more)
Single nucleotide variant
(nonsense +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GLikely pathogenic
CFI
(D321G +4 more)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GLikely pathogenic
CFI
(D524V +4 more)
Single nucleotide variant
(missense variant +2 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
Grisk factor
CFI
(D321Y +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
(D519N +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
CFI
(G313V +4 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign/Likely benign
CFI
(D505N +9 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(A511V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
CFI
(C307S +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(M305I +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CFI
(K506Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
(R502H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(R483G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(G481R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(Y296H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(F295L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(K490N +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(S293F +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
GLikely pathogenic
CFI
(S293C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(S293P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(S290R +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+3 more
GUncertain significance
CFI
(I289M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(I473L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(K483N +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(V286I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
(W486* +4 more)
Single nucleotide variant
(nonsense +1 more)
CFI-related disorder
GLikely pathogenic
CFI
(L465fs +4 more)
Deletion
(frameshift variant +1 more)
Factor I deficiency
+1 more
GPathogenic
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
CFI
(R473fs +4 more)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
CFI
(E479G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(E472K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
+3 more
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GBenign
CFI
Single nucleotide variant
(intron variant)
not provided
GBenign
CFI
Single nucleotide variant
(intron variant)
not provided
GBenign
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
CFI
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CFI
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with I factor anomaly
GUncertain significance
CFI
Single nucleotide variant
(splice donor variant)
Factor I deficiency
+4 more
GPathogenic/Likely pathogenic
CFI
(D477H +4 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with I factor anomaly
+1 more
GUncertain significance
CFI
(R467Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(R474* +4 more)
Single nucleotide variant
(nonsense +1 more)
CFI-related disorder
+1 more
GPathogenic/Likely pathogenic
CFI
(W269* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
CFI
Single nucleotide variant
(synonymous variant +1 more)
CFI-related disorder
+2 more
GBenign/Likely benign
CFI
(V469I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(I449V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(C460R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CFI
(T263R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
(N261K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CFI
(N261K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFI
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
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