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

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Items: 23

	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 265359	NM_203447.4(DOCK8):c.54-1G>T	DOCK8	Single nucleotide variant (splice acceptor variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 502648	NM_203447.4(DOCK8):c.378C>G (p.Ile126Met)	DOCK8 (I126M +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 366544	NM_203447.4(DOCK8):c.550G>A (p.Val184Met)	DOCK8 (V184M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 581803	NM_203447.4(DOCK8):c.562G>A (p.Val188Met)	DOCK8 (V188M +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1001378	NM_203447.4(DOCK8):c.860G>T (p.Ser287Ile)	DOCK8 (S219I +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 938466	NM_203447.4(DOCK8):c.1306C>T (p.Arg436Trp)	DOCK8 (R436W +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 958338	NM_203447.4(DOCK8):c.1343G>A (p.Arg448Lys)	DOCK8 (R380K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +1 more	GUncertain significance
Select item 377797	NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met)	DOCK8 (L528M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 441085	NM_203447.4(DOCK8):c.2971-5C>T	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 366966	NM_203447.4(DOCK8):c.3134C>T (p.Ala1045Val)	DOCK8 (A1045V +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1006284	NM_203447.4(DOCK8):c.3484C>T (p.Leu1162Phe)	DOCK8 (L1062F +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 582150	NM_203447.4(DOCK8):c.3757G>A (p.Gly1253Ser)	DOCK8 (G1253S +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 512096	NM_203447.4(DOCK8):c.3841-11C>T	DOCK8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377799	NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)	DOCK8 (L1330V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 835701	NM_203447.4(DOCK8):c.4268C>G (p.Ala1423Gly)	DOCK8 (A1323G +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 386550	NM_203447.4(DOCK8):c.4346C>T (p.Ser1449Leu)	DOCK8 (S1449L +2 more)	Single nucleotide variant (missense variant)	DOCK8-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 707921	NM_203447.4(DOCK8):c.4724G>A (p.Arg1575Lys)	DOCK8 (R1575K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 228617	NM_203447.4(DOCK8):c.5207C>G (p.Ala1736Gly)	DOCK8 (A1736G +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1027955	NM_203447.4(DOCK8):c.5442del (p.Val1813_Tyr1814insTer)	DOCK8	Deletion (nonsense)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 941786	NM_203447.4(DOCK8):c.5711G>A (p.Arg1904Gln)	DOCK8 (R1804Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	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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Items: 23