"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 24

	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)	+2 more	GConflicting classifications of pathogenicity
Select item 137155	NM_203447.4(DOCK8):c.65C>T (p.Ala22Val)	DOCK8 (A22V)	Single nucleotide variant (missense variant)	+3 more	GBenign
Select item 178766	NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr)	DOCK8, LOC126860552 (P97T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 366538	NM_203447.4(DOCK8):c.380G>A (p.Arg127His)	DOCK8 (R127H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 180037	NM_203447.4(DOCK8):c.404+16del	DOCK8	Deletion (intron variant)	+3 more	GBenign/Likely benign
Select item 366541	NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)	DOCK8 (S165L +1 more)	Single nucleotide variant (missense variant)	not provided +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)	not provided +2 more	GLikely benign
Select item 163173	NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)	DOCK8 (E237K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 263271	NM_203447.4(DOCK8):c.895-16T>C	DOCK8	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 137137	NM_203447.4(DOCK8):c.1812A>G (p.Lys604=)	DOCK8	Single nucleotide variant (synonymous variant)	+3 more	GBenign
Select item 137139	NM_203447.4(DOCK8):c.2340G>C (p.Leu780=)	DOCK8	Single nucleotide variant (synonymous variant)	+3 more	GBenign
Select item 137141	NM_203447.4(DOCK8):c.2916C>T (p.Thr972=)	DOCK8	Single nucleotide variant (synonymous variant)	+3 more	GBenign
Select item 137144	NM_203447.4(DOCK8):c.3230G>A (p.Ser1077Asn)	DOCK8 (S1077N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 366971	NM_203447.4(DOCK8):c.3234+15del	DOCK8	Deletion (intron variant)	Hyper-IgE syndrome +2 more	GBenign/Likely benign
Select item 512075	NM_203447.4(DOCK8):c.3701-17C>T	DOCK8	Single nucleotide variant (intron variant)	+1 more	GBenign/Likely benign
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 178769	NM_203447.4(DOCK8):c.4107C>G (p.Leu1369=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 163176	NM_203447.4(DOCK8):c.4785+6C>G	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 163177	NM_203447.4(DOCK8):c.4886+3A>G	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 137150	NM_203447.4(DOCK8):c.5211G>A (p.Glu1737=)	DOCK8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 178771	NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=)	DOCK8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 263270	NM_203447.4(DOCK8):c.5581-18G>C	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 913843	NM_203447.4(DOCK8):c.5962-8C>T	DOCK8	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367094	NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign

ClinVar

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Items: 24