"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 473872	NM_001242.5(CD27):c.30C>T (p.Cys10=)	CD27, CD27-AS1	Single nucleotide variant (synonymous variant)	CD27-related disorder +2 more	GBenign/Likely benign
Select item 857202	NM_001242.5(CD27):c.37G>A (p.Gly13Arg)	CD27, CD27-AS1 (G13R)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2 +2 more	GUncertain significance
Select item 473871	NM_001242.5(CD27):c.269-9T>C	CD27, CD27-AS1	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GBenign
Select item 724198	NM_001242.5(CD27):c.539-6T>C	CD27, CD27-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 947623	NM_001242.5(CD27):c.713G>A (p.Arg238Lys)	CD27-AS1, CD27 (R238K)	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphoproliferative syndrome 2 +1 more	GUncertain significance
Select item 1694251	NM_001242.5(CD27):c.734T>A (p.Ile245Asn)	CD27, CD27-AS1 (I245N)	Single nucleotide variant (non-coding transcript variant +1 more)	Autoinflammatory syndrome	GUncertain significance

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