U.S. flag

An official website of the United States government

Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1QC
(D2Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
(D2N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
(V3A)
Single nucleotide variant
(missense variant +1 more)
C1Q deficiency
+1 more
GConflicting classifications of pathogenicity
C1QC
(P5R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
(S7fs)
Indel
(frameshift variant +1 more)
C1Q deficiency
GUncertain significance
C1QC
(S7T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
C1QC
(S7N)
Indel
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
C1QC
(S7Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
C1QC
(L8P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
(G34R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
C1QC
(I35V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
(D51V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
C1QC
(G55E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
(K57Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1QC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1QC
Single nucleotide variant
(intron variant)
not provided
GBenign
C1QC
Single nucleotide variant
(intron variant)
not provided
GBenign
C1QC
Single nucleotide variant
(intron variant)
not provided
GBenign
C1QC
Single nucleotide variant
(intron variant)
not provided
GBenign
C1QC
Single nucleotide variant
(intron variant)
not provided
GBenign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
C1QC
(G67R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
(R69*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
C1QC
(P71S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
(Q74fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
C1QC
(K72T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
(E77G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
(P78S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1QC
(G2* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(P3T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(V98G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
(I104V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(E18K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
(E107D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(F33L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(T123M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(R126W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
C1QC
(P131A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1QC
(P131R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
(I49F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(A142T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C1QC
(A53E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(N146K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(G149R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
(T153M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(S154G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
(T159N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(G164S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(H171Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
(A172V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(N177K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1QC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1QC
(V180M +1 more)
Single nucleotide variant
(missense variant)
C1Q deficiency
+2 more
GUncertain significance
C1QC
(L93P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
C1QC
(Y183C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination