"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DOCK8"[gen - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 712348	NM_203447.4(DOCK8):c.15G>A (p.Pro5=)	DOCK8-AS1, LOC130001437 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome +2 more	GBenign/Likely benign
Select item 1299135	NM_203447.4(DOCK8):c.53+20G>A	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 858726	NM_203447.4(DOCK8):c.148C>T (p.Leu50Phe)	DOCK8 (L50F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2659013	NM_203447.4(DOCK8):c.157-5579C>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
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 913367	NM_203447.4(DOCK8):c.470C>T (p.Thr157Met)	DOCK8 (T157M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +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)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 857419	NM_203447.4(DOCK8):c.538C>T (p.Arg180Cys)	DOCK8 (R112C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 709398	NM_203447.4(DOCK8):c.541C>G (p.His181Asp)	DOCK8 (H113D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366546	NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu)	DOCK8 (D221E +1 more)	Single nucleotide variant (missense variant)	DOCK8-related condition +3 more	GConflicting classifications of pathogenicity
Select item 366578	NM_203447.4(DOCK8):c.828-7A>G	DOCK8	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 916363	NM_203447.4(DOCK8):c.919C>G (p.Leu307Val)	DOCK8 (L307V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 452103	NM_203447.4(DOCK8):c.1090C>T (p.Pro364Ser)	DOCK8 (P364S +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GUncertain significance
Select item 1879726	NM_203447.4(DOCK8):c.1126-790G>A	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 624347	NM_203447.4(DOCK8):c.1422G>A (p.Gln474=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1437906	NM_203447.4(DOCK8):c.1433G>A (p.Arg478His)	DOCK8 (R478H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2659014	NM_203447.4(DOCK8):c.1461T>C (p.Phe487=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659015	NM_203447.4(DOCK8):c.1516G>A (p.Gly506Ser)	DOCK8 (G438S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 366676	NM_203447.4(DOCK8):c.1623C>G (p.His541Gln)	DOCK8 (H541Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1013032	NM_203447.4(DOCK8):c.1637A>G (p.Glu546Gly)	DOCK8 (E478G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 912463	NM_203447.4(DOCK8):c.1656A>G (p.Val552=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1176280	NM_203447.4(DOCK8):c.1798-4A>G	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 729963	NM_203447.4(DOCK8):c.1824T>A (p.Pro608=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +1 more	GLikely benign
Select item 228615	NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe)	DOCK8 (I673F +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 366864	NM_203447.4(DOCK8):c.2275G>A (p.Val759Met)	DOCK8 (V759M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 77679	NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys)	DOCK8 (E766K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +3 more	GUncertain significance
Select item 468736	NM_203447.4(DOCK8):c.2310G>A (p.Glu770=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2659016	NM_203447.4(DOCK8):c.2727G>A (p.Ala909=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 282578	NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys)	DOCK8 (E917K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450175	NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val)	DOCK8 (I927V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive hyper-IgE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1092381	NM_203447.4(DOCK8):c.2916C>A (p.Thr972=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1023654	NM_203447.4(DOCK8):c.2992G>T (p.Val998Leu)	DOCK8 (V898L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1417745	NM_203447.4(DOCK8):c.3044G>A (p.Arg1015His)	DOCK8 (R915H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 218873	NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val)	DOCK8 (I1020V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 366969	NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn)	DOCK8 (H1074N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2659017	NM_203447.4(DOCK8):c.3306C>T (p.Ser1102=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624348	NM_203447.4(DOCK8):c.3323A>G (p.Asn1108Ser)	DOCK8 (N1108S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +1 more	GUncertain significance
Select item 872498	NM_203447.4(DOCK8):c.3339del (p.Phe1113fs)	DOCK8 (F1013fs +2 more)	Deletion (frameshift variant)	Autosomal recessive hyper-IgE syndrome +1 more	GPathogenic/Likely pathogenic
Select item 418766	NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)	DOCK8 (R1154C +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 366976	NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided +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 366993	NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +2 more	GBenign/Likely benign
Select item 1598022	NM_203447.4(DOCK8):c.3633C>T (p.Ile1211=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 999921	NM_203447.4(DOCK8):c.3734C>T (p.Ser1245Leu)	DOCK8 (S1145L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1138454	NM_203447.4(DOCK8):c.3735G>A (p.Ser1245=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1879727	NM_203447.4(DOCK8):c.3747A>G (p.Gln1249=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 582150	NM_203447.4(DOCK8):c.3757G>A (p.Gly1253Ser)	DOCK8 (G1253S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 372357	NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)	DOCK8 (Y1272C +2 more)	Single nucleotide variant (missense variant)	DOCK8-related condition +4 more	GConflicting classifications of pathogenicity
Select item 512115	NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=)	DOCK8	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign/Likely benign
Select item 1879728	NM_203447.4(DOCK8):c.4201G>T (p.Glu1401Ter)	DOCK8 (E1301* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 624349	NM_203447.4(DOCK8):c.4339-3C>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 444767	NM_203447.4(DOCK8):c.4387_4395del (p.Arg1463_Leu1465del)	DOCK8	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2659018	NM_203447.4(DOCK8):c.4504G>C (p.Glu1502Gln)	DOCK8 (E1402Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1142270	NM_203447.4(DOCK8):c.4704G>A (p.Glu1568=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +2 more	GLikely benign
Select item 1176894	NM_203447.4(DOCK8):c.4791G>A (p.Glu1597=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +1 more	GLikely benign
Select item 951450	NM_203447.4(DOCK8):c.4895A>G (p.Lys1632Arg)	DOCK8 (K1564R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 536614	NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=)	DOCK8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1176895	NM_203447.4(DOCK8):c.5127C>T (p.Thr1709=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748964	NM_203447.4(DOCK8):c.5199G>A (p.Glu1733=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444768	NM_203447.4(DOCK8):c.5491-4C>T	DOCK8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025278	NM_203447.4(DOCK8):c.5505A>G (p.Gln1835=)	DOCK8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624350	NM_203447.4(DOCK8):c.5653G>A (p.Glu1885Lys)	DOCK8 (E1885K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 367034	NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile)	DOCK8 (T1943I +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GUncertain significance
Select item 624351	NM_203447.4(DOCK8):c.5858AGA[2] (p.Lys1955del)	DOCK8 (K1955del +2 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1695241	NM_203447.4(DOCK8):c.5864A>C (p.Lys1955Thr)	DOCK8 (K1855T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 916364	NM_203447.4(DOCK8):c.5962-18_5962-8del	DOCK8	Deletion (intron variant)	not provided	GLikely benign
Select item 536611	NM_203447.4(DOCK8):c.5962-16_5962-8del	DOCK8	Deletion (intron variant)	not provided +1 more	GLikely benign
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 624352	NM_203447.4(DOCK8):c.5985G>A (p.Val1995=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +1 more	GLikely benign
Select item 1059642	NM_203447.4(DOCK8):c.6064A>G (p.Met2022Val)	DOCK8 (M1922V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 957642	NM_203447.4(DOCK8):c.6187C>T (p.Arg2063Trp)	DOCK8 (R1963W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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
Select item 810488	GRCh37/hg19 9p24.3(chr9:328022-464219)x3	DOCK8	Copy number gain	not provided	GUncertain significance
Select item 547120	GRCh37/hg19 9p24.3(chr9:266045-434797)x1	DOCK8	Copy number loss	not provided	GLikely pathogenic

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Items: 74