"GenomeConnect, ClinGen"[submitter] AND "DOCK2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 476020	NM_004946.3(DOCK2):c.843+7G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GBenign
Select item 1165005	NM_004946.3(DOCK2):c.844-4C>A	DOCK2, LOC126807589	Single nucleotide variant (intron variant)	DOCK2 deficiency	GBenign
Select item 1166024	NM_004946.3(DOCK2):c.1212C>A (p.Thr404=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 542615	NM_004946.3(DOCK2):c.1288C>G (p.Leu430Val)	DOCK2 (L430V)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 476007	NM_004946.3(DOCK2):c.2352A>G (p.Gln784=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GBenign
Select item 1165006	NM_004946.3(DOCK2):c.2727G>A (p.Gln909=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency +1 more	GBenign
Select item 1169059	NM_004946.3(DOCK2):c.3195A>C (p.Leu1065=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency +1 more	GBenign
Select item 1165007	NM_004946.3(DOCK2):c.3456C>G (p.Leu1152=)	DOCK2	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK2 deficiency +1 more	GBenign
Select item 1165008	NM_004946.3(DOCK2):c.3468-4G>A	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency +1 more	GBenign
Select item 1165009	NM_004946.3(DOCK2):c.3612C>T (p.Thr1204=)	DOCK2	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK2 deficiency +1 more	GBenign
Select item 1165183	NM_004946.3(DOCK2):c.4896T>C (p.Arg1632=)	DOCK2	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign