"Baylor Genetics"[submitter] AND "DOCK8-AS1"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030476	NM_203447.4(DOCK8):c.53+23C>T	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1030477	NM_203447.4(DOCK8):c.53+262G>C	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic

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