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Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
FCRL5
(T988S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FCRL5
(L986P)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FCRL5
(R960W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R957H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FCRL5
(M933T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FCRL5
(H936Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(A864T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(G855S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(A853T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL5, LOC126805880
(F848L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(A842S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(L840M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(I837V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(D822G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(A811S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5, LOC126805880
(A764V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL5, LOC126805880
(H762Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(L756R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FCRL5
(E739K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(G732C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(S726C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(F713V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FCRL5
(I689V)
Single nucleotide variant
(missense variant)
not provided
GBenign
FCRL5
(Q669H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FCRL5
(S633L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(L622F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(G592V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R571G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(V563M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(V554M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(T542I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(Y540C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FCRL5
(V525A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL5
(S521T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(E510K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(F507L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(G499D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R498S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(A480P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL5
(V470L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(A461V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(Q457R)
Single nucleotide variant
(missense variant)
not provided
GBenign
FCRL5
(N427K)
Single nucleotide variant
(missense variant)
not provided
GBenign
FCRL5
(R423H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R423C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(G418S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R405G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(S385R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(P380R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(V377M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(G360R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(C335Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R316H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(M250I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL5
(G236E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R227H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(D221E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(V207G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(P192L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R191H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(V181A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FCRL5
(C157R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL5
(E128G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(A127V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R124Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FCRL5
(G89S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(Q86E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R84I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(N73D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(P71L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(R68S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(Y50S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FCRL5
(L27P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACKR1, AIM2
+80 more
Copy number gain
not provided
GLikely pathogenic
ACP6, ADAM15
+315 more
Copy number gain
not specified
GPathogenic
ACP6, ADAM15
+293 more
Copy number gain
Chromosome 1q21.1 duplication syndrome
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
FCRL1, FCRL5
+4 more
Copy number gain
not provided
GUncertain significance
ARHGEF11, ARHGEF2
+57 more
Copy number loss
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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