"GeneDx"[submitter] AND "TMPRSS15"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59220	GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3	ASMER1, BTG3 +118 more	Copy number gain	See cases	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 59225	GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3	ASMER1, BTG3 +129 more	Copy number gain	See cases	GPathogenic
Select item 4164	NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter)	TMPRSS15 (S712*)	Single nucleotide variant (nonsense)	Enterokinase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1178626	NM_002772.3(TMPRSS15):c.2033-11T>C	TMPRSS15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1974910	NM_002772.3(TMPRSS15):c.1736T>G (p.Val579Gly)	TMPRSS15 (V579G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974790	NM_002772.3(TMPRSS15):c.533-2A>G	TMPRSS15	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic