"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265359	NM_203447.4(DOCK8):c.54-1G>T	DOCK8	Single nucleotide variant (splice acceptor variant)	Autosomal recessive hyper-IgE syndrome +4 more	GConflicting classifications of pathogenicity
Select item 366538	NM_203447.4(DOCK8):c.380G>A (p.Arg127His)	DOCK8 (R127H +1 more)	Single nucleotide variant (missense variant)	DOCK8-related condition +4 more	GConflicting classifications of pathogenicity
Select item 366541	NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)	DOCK8 (S165L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 468740	NM_203447.4(DOCK8):c.580G>A (p.Val194Ile)	DOCK8 (V194I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +1 more	GLikely benign
Select item 449248	NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)	DOCK8 (R1008Q +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 366971	NM_203447.4(DOCK8):c.3234+15del	DOCK8	Deletion (intron variant)	Autosomal recessive hyper-IgE syndrome +2 more	GBenign/Likely benign
Select item 366974	NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp)	DOCK8 (E1104D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 163175	NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +3 more	GBenign/Likely benign
Select item 579069	NM_203447.4(DOCK8):c.3844T>C (p.Tyr1282His)	DOCK8 (Y1282H +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 366996	NM_203447.4(DOCK8):c.4024-4C>T	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1206327	NM_203447.4(DOCK8):c.4154-5C>G	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 137150	NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=)	DOCK8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 418165	NM_203447.4(DOCK8):c.5612A>G (p.Tyr1871Cys)	DOCK8 (Y1871C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 913843	NM_203447.4(DOCK8):c.5962-8C>T	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 367094	NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +3 more	GBenign/Likely benign