C4225328[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475999	NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr)	DOCK2 (A454T)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1028312	NM_004946.3(DOCK2):c.1384-4T>C	DOCK2	Single nucleotide variant (intron variant)	DOCK2 deficiency	GConflicting classifications of pathogenicity
Select item 1028313	NM_004946.3(DOCK2):c.1936G>A (p.Val646Met)	DOCK2 (V646M)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1028822	NM_004946.3(DOCK2):c.2782C>T (p.Arg928Trp)	DOCK2 (R928W)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1034135	NM_001129891.3(INSYN2B):c.841C>T (p.Pro281Ser)	DOCK2, INSYN2B (P281S)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 721274	NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr)	DOCK2 (I980T)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GConflicting classifications of pathogenicity
Select item 1034136	NM_004946.3(DOCK2):c.3073-8A>G	DOCK2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028823	NM_004946.3(DOCK2):c.4163T>A (p.Met1388Lys)	DOCK2 (M1388K)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 835441	NM_004946.3(DOCK2):c.4517A>G (p.Asn1506Ser)	DOCK2 (N1506S)	Single nucleotide variant (missense variant +1 more)	DOCK2 deficiency	GUncertain significance
Select item 1028824	NM_004946.3(DOCK2):c.4729-2A>G	DOCK2	Single nucleotide variant (splice acceptor variant)	DOCK2 deficiency	GLikely pathogenic
Select item 1028825	NM_004946.3(DOCK2):c.5166G>A (p.Arg1722=)	DOCK2	Single nucleotide variant (synonymous variant +1 more)	DOCK2 deficiency	GUncertain significance