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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL8B, ARPC4
+281 more
Copy number loss
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+48 more
Copy number loss
See cases
GPathogenic
BRK1, CRELD1
+34 more
Copy number loss
See cases
GPathogenic
IL17RC
(R14*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
IL17RC
(V142G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL17RC
(V163M +1 more)
Single nucleotide variant
(missense variant +1 more)
Candidiasis, familial, 9
+1 more
GConflicting classifications of pathogenicity
IL17RC
(Q307* +4 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
CRELD1, IL17RC
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
ARPC4, ARPC4-TTLL3
+39 more
Copy number loss
See cases
GPathogenic
MTMR14, IL17RC
+21 more
Copy number gain
See cases
GLikely pathogenic
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