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Links from MedGen

Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD46
(F246C)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
(P73S)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(splice acceptor variant +1 more)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GLikely pathogenic
CD46
(R288fs +2 more)
Deletion
(frameshift variant +1 more)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GPathogenic
CD46
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CD46
(C64F)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+2 more
GUncertain significance
CD46
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+2 more
GLikely benign
CD46
(E118fs)
Duplication
(frameshift variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GPathogenic
CD46
(K66N)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GConflicting classifications of pathogenicity
CD46, LOC129932405
(M24I)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GUncertain significance
CD46
(E179Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CD46
(V215M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD46
(V187L)
Indel
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Indel
(intron variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CD46
(G196R)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
CD46-related condition
+3 more
GBenign
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
(T98I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
+2 more
GConflicting classifications of pathogenicity
CD46
(R82Q)
Single nucleotide variant
(missense variant)
CD46-related condition
+2 more
GUncertain significance
CD46, LOC129932405
(S13F)
Single nucleotide variant
(missense variant)
CD46-related condition
+3 more
GBenign
CD46, LOC129932405
Single nucleotide variant
(5 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46, LOC129932405
Single nucleotide variant
(5 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GLikely benign
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant +1 more)
CD46-related condition
+2 more
GConflicting classifications of pathogenicity
CD46
Single nucleotide variant
(intron variant +1 more)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(5 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GConflicting classifications of pathogenicity
CD46
(P309L +2 more)
Single nucleotide variant
(missense variant +1 more)
CD46-related condition
+2 more
GConflicting classifications of pathogenicity
CD46
(A34V)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
(Q238fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GLikely pathogenic
CD46
(W276*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CD46
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+3 more
GBenign/Likely benign
CD46
(D266N)
Single nucleotide variant
(missense variant)
Kidney disorder
+3 more
GConflicting classifications of pathogenicity
CD46
(G135fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GPathogenic
CD46
(L202F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
Kidney disorder
+3 more
GBenign/Likely benign
CD46
Single nucleotide variant
(splice donor variant)
Atypical hemolytic-uremic syndrome
+2 more
GPathogenic/Likely pathogenic
CD46
(T383I +4 more)
Single nucleotide variant
(missense variant +1 more)
CD46-related condition
+3 more
GConflicting classifications of pathogenicity
CD46
(R229*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CD46
Deletion
(nonsense)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GPathogenic
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GBenign
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GBenign
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GBenign
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GBenign
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GBenign
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GBenign
CD46
Single nucleotide variant
(3 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
(G365S +6 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(3 prime UTR variant +1 more)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+2 more
GBenign
CD46
(A353V +4 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+3 more
GConflicting classifications of pathogenicity
CD46
(P332A +4 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GUncertain significance
CD46
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
(A311V +1 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GUncertain significance
CD46
(S302L +1 more)
Single nucleotide variant
(missense variant +1 more)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GUncertain significance
CD46
Single nucleotide variant
(intron variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
(D192H)
Single nucleotide variant
(missense variant)
Kidney disorder
+2 more
GConflicting classifications of pathogenicity
CD46
Single nucleotide variant
(synonymous variant)
CD46-related condition
+2 more
GConflicting classifications of pathogenicity
CD46
(T40A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD46
(G259fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GPathogenic
CD46
(C35Y)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GConflicting classifications of pathogenicity
CD46
(R59*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CD46
Single nucleotide variant
(splice acceptor variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Grisk factor
CD46
(S240P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Deletion
(inframe_deletion)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Grisk factor
CD46
(T267fs)
Microsatellite
(frameshift variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Grisk factor
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