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Items: 1 to 100 of 372

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3C2B, PKP1
+1147 more
Copy number gain
See cases
GPathogenic
LOC129932391, PIK3C2B
+278 more
Deletion
Autism
GLikely pathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
C1orf74, CAMK1G
+97 more
Copy number loss
See cases
GPathogenic
CD46
Single nucleotide variant
not provided
GBenign
CD46
Single nucleotide variant
not provided
GBenign
CD46
Single nucleotide variant
not provided
GBenign
CD46
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, LOC129932405
Single nucleotide variant
(5 prime UTR variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
LOC129932405, CD46
Single nucleotide variant
(5 prime UTR variant)
Atypical hemolytic-uremic syndrome
GUncertain significance
CD46, LOC129932405
(P4S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129932405, CD46
(P4L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129932405, CD46
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD46, LOC129932405
Single nucleotide variant
(synonymous variant)
CD46-related disorder
GLikely benign
CD46, LOC129932405
(R6L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD46, LOC129932405
(P12L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(S13F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
CD46, LOC129932405
(W14R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(G18R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(L19F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(L20F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD46, LOC129932405
(L20P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(A22E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(A23G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD46, LOC129932405
(M24L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(M24V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129932405, CD46
(M24T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CD46, LOC129932405
(M24I)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GUncertain significance
CD46, LOC129932405
(L28fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome
GLikely pathogenic
CD46, LOC129932405
(S30del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
CD46, LOC129932405
(S30C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CD46, LOC129932405
(D33Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46, LOC129932405
(D33H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CD46, LOC129932405
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD46
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD46
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD46
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD46
Single nucleotide variant
(intron variant)
not provided
GBenign
CD46
Single nucleotide variant
(intron variant)
not provided
GBenign
CD46
Single nucleotide variant
(splice acceptor variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Grisk factor
CD46
(A34V)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
(C35Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CD46
(E37K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(T40A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD46
(E42fs)
Deletion
(frameshift variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GPathogenic
CD46
(A43V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(M44L)
Single nucleotide variant
(missense variant)
not provided
GBenign
CD46
(M44I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(K51fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
CD46
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD46
(I56V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(I56T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD46
(G57S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(R59*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CD46
(R59Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(V60A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CD46
(D61E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(Y62C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD46
(C64F)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+2 more
GUncertain significance
CD46
(C64Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(K66N)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+1 more
GConflicting classifications of pathogenicity
CD46
(I71V)
Indel
(missense variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD46
(P73S)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
GUncertain significance
CD46
(P73L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(L74F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD46
(A75V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(H77R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(I79V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CD46
(R82W)
Single nucleotide variant
(missense variant)
CD46-related disorder
+1 more
GUncertain significance
CD46
(R82Q)
Single nucleotide variant
(missense variant)
CD46-related disorder
+2 more
GUncertain significance
CD46
(H84R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(H84P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD46
(H84L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD46
(W86*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+2 more
GLikely benign
CD46
(S90A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
CD46-related disorder
+2 more
GConflicting classifications of pathogenicity
CD46
(A93S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
(A93V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
Atypical hemolytic-uremic syndrome
+2 more
GConflicting classifications of pathogenicity
CD46
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
CD46
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CD46
Microsatellite
(intron variant)
not provided
GLikely benign
CD46
Duplication
(intron variant)
not provided
GBenign
CD46
Deletion
(intron variant)
not provided
GBenign
CD46
Deletion
(intron variant)
not provided
+1 more
GBenign/Likely benign
CD46
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD46
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CD46
(T98I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CD46
(I102V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD46
(P112L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CD46
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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