"GeneDx"[submitter] AND "CD27"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 1281033	NC_000012.12:g.6444626C>G	CD27, CD27-AS1	Single nucleotide variant	not provided	GBenign
Select item 1228878	NC_000012.12:g.6444640G>A	CD27, CD27-AS1	Single nucleotide variant	not provided	GBenign
Select item 1260079	NC_000012.12:g.6444673dup	CD27, CD27-AS1	Duplication	not provided	GBenign
Select item 1256950	NC_000012.12:g.6444673del	CD27, CD27-AS1	Deletion	not provided	GBenign
Select item 1276346	NC_000012.12:g.6444694A>G	CD27, CD27-AS1	Single nucleotide variant	not provided	GBenign
Select item 1225398	NM_001242.5(CD27):c.136+32G>C	CD27, CD27-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1168241	NM_001242.5(CD27):c.175G>A (p.Ala59Thr)	CD27, CD27-AS1 (A59T)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 2 +2 more	GBenign
Select item 540910	NM_001242.5(CD27):c.541C>T (p.Gln181Ter)	CD27, CD27-AS1 +1 more (Q181*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1800660	NM_001242.5(CD27):c.569delinsGC (p.Ile190fs)	CD27, CD27-AS1 +1 more (I190fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 656240	NM_001242.5(CD27):c.721G>A (p.Glu241Lys)	CD27, CD27-AS1 (E241K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 402518	NM_001242.5(CD27):c.*15G>T	CD27, CD27-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic