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Items: 1 to 100 of 149

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
ALPL, C1QA
+60 more
Copy number loss
See cases
GUncertain significance
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
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/Likely benign
C1QC
(G67R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
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
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
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)
not provided
+2 more
GUncertain significance
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