Related gene-specific medical variations for Gene (Select 81704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273419	NM_203447.4(DOCK8):c.29G>A (p.Arg10His)	DOCK8, DOCK8-AS1 +1 more (R10H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273418	NM_203447.4(DOCK8):c.255C>G (p.Asp85Glu)	DOCK8, LOC126860552 (D85E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273417	NM_203447.4(DOCK8):c.233A>G (p.Gln78Arg)	DOCK8, LOC126860552 (Q78R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245233	NC_000009.11:g.(?_328002)_(464219_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245232	NC_000009.11:g.(?_328002)_(336738_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245231	NC_000009.11:g.(?_325651)_(422155_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245229	NC_000009.11:g.(?_311934)_(464219_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245228	NC_000009.11:g.(?_304561)_(382705_?)dup	DOCK8	Duplication		GLikely pathogenic
Select item 3245227	NC_000009.11:g.(?_433855)_(446626_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245226	NC_000009.11:g.(?_414762)_(464219_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245225	NC_000009.11:g.(?_406910)_(464219_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245224	NC_000009.11:g.(?_399126)_(464219_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245223	NC_000009.11:g.(?_382493)_(399279_?)dup	DOCK8	Duplication		GLikely pathogenic
Select item 3245222	NC_000009.11:g.(?_271607)_(452137_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245221	NC_000009.11:g.(?_271607)_(434995_?)dup	DOCK8	Duplication		GLikely pathogenic
Select item 3245219	NC_000009.11:g.(?_271607)_(414971_?)dup	DOCK8	Duplication		GLikely pathogenic
Select item 3245218	NC_000009.11:g.(?_271607)_(332498_?)dup	DOCK8	Duplication		GLikely pathogenic
Select item 3245216	NC_000009.11:g.(?_332378)_(464219_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245212	NC_000009.11:g.(?_325651)_(325757_?)dup	DOCK8	Duplication		GLikely pathogenic
Select item 3245210	NC_000009.11:g.(?_325651)_(382705_?)del	DOCK8	Deletion		GPathogenic
Select item 3245209	NC_000009.11:g.(?_304561)_(340341_?)del	DOCK8	Deletion		GPathogenic
Select item 3245208	NC_000009.11:g.(?_271607)_(312186_?)del	DOCK8	Deletion		GPathogenic
Select item 3245206	NC_000009.11:g.(?_304561)_(304724_?)del	DOCK8	Deletion		GPathogenic
Select item 3245205	NC_000009.11:g.(?_422028)_(422155_?)del	DOCK8	Deletion		GPathogenic
Select item 3085119	NR_160804.1(DOCK8-AS1):n.361C>T	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3085118	NR_160804.1(DOCK8-AS1):n.1145T>G	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3085117	NR_160804.1(DOCK8-AS1):n.1003G>A	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3085116	NR_160804.1(DOCK8-AS1):n.943A>T	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 3085115	NR_160804.1(DOCK8-AS1):n.880G>C	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3085114	NR_160804.1(DOCK8-AS1):n.709G>C	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3067972	NM_203447.4:c.-469_156+28del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 3067870	NM_203447.4(DOCK8):c.387G>C (p.Trp129Cys)	DOCK8 (W129C +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 3065780	NM_203447.4(DOCK8):c.1797+1G>T	DOCK8	Single nucleotide variant (splice donor variant)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 3061807	NM_203447.4(DOCK8):c.3152del (p.Ser1051fs)	DOCK8 (S1051fs +2 more)	Deletion (frameshift variant)	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 3043917	NM_203447.4(DOCK8):c.157-1G>T	DOCK8, LOC126860552	Single nucleotide variant (splice acceptor variant)	DOCK8-related disorder	GLikely pathogenic
Select item 3001094	NM_203447.4(DOCK8):c.157-6C>A	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2986206	NM_203447.4(DOCK8):c.53+9C>T	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2919938	NM_203447.4(DOCK8):c.18C>T (p.Ser6=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2892157	NM_203447.4(DOCK8):c.53+14C>A	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2892155	NM_203447.4(DOCK8):c.49A>G (p.Asn17Asp)	LOC130001437, DOCK8 +1 more (N17D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2864488	NM_203447.4(DOCK8):c.278T>C (p.Val93Ala)	DOCK8, LOC126860552 (V25A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2839604	NM_203447.4(DOCK8):c.48C>T (p.Ile16=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2815683	NM_203447.4(DOCK8):c.39G>A (p.Ala13=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2803206	NM_203447.4(DOCK8):c.53+15dup	DOCK8, DOCK8-AS1	Duplication (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2800635	NM_203447.4(DOCK8):c.260C>T (p.Thr87Ile)	DOCK8, LOC126860552 (T19I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2797729	NM_203447.4(DOCK8):c.261T>G (p.Thr87=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2796412	NM_203447.4(DOCK8):c.289C>G (p.Pro97Ala)	DOCK8, LOC126860552 (P29A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2794497	NM_203447.4(DOCK8):c.179A>T (p.Glu60Val)	DOCK8, LOC126860552 (E60V)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2792225	NM_203447.4(DOCK8):c.198A>G (p.Gly66=)	DOCK8, LOC126860552	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2706947	NM_203447.4(DOCK8):c.261T>C (p.Thr87=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2685329	GRCh37/hg19 9p24.3(chr9:242583-353602)x1	DOCK8	Copy number loss	not provided	GUncertain significance
Select item 2685328	GRCh37/hg19 9p24.3(chr9:230227-309108)x1	DOCK8	Copy number loss	not provided	GUncertain significance
Select item 2628382	NM_203447.4(DOCK8):c.39G>T (p.Ala13=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	DOCK8-related disorder	GUncertain significance
Select item 2440992	NM_203447.4(DOCK8):c.6147C>G (p.Asn2049Lys)	DOCK8 (N1949K +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2440991	NM_203447.4(DOCK8):c.4474-26C>T	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2431914	NC_000009.12:g.(333421_334903)del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GLikely pathogenic
Select item 2417531	NM_203447.4(DOCK8):c.221G>T (p.Ser74Ile)	DOCK8, LOC126860552 (S6I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +1 more	GUncertain significance
Select item 2236711	NM_203447.4(DOCK8):c.251G>A (p.Gly84Glu)	DOCK8, LOC126860552 (G16E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197750	NM_203447.4(DOCK8):c.332+13C>A	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2194933	NM_203447.4(DOCK8):c.157-13C>T	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2192847	NM_203447.4(DOCK8):c.14C>G (p.Pro5Arg)	DOCK8, DOCK8-AS1 +1 more (P5R)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2188421	NM_203447.4(DOCK8):c.157-4C>T	LOC126860552, DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2185070	NM_203447.4(DOCK8):c.43A>C (p.Lys15Gln)	DOCK8, DOCK8-AS1 +1 more (K15Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2162684	NM_203447.4(DOCK8):c.300T>C (p.Cys100=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2142777	NM_203447.4(DOCK8):c.185T>G (p.Val62Gly)	DOCK8, LOC126860552 (V62G)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2129812	NM_203447.4(DOCK8):c.196G>A (p.Gly66Arg)	DOCK8, LOC126860552 (G66R)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 2107839	NM_203447.4(DOCK8):c.314C>A (p.Pro105His)	DOCK8, LOC126860552 (P105H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2102707	NM_203447.4(DOCK8):c.157-19C>T	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2058950	NM_203447.4(DOCK8):c.157-12C>G	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2022997	NM_203447.4(DOCK8):c.53+10C>A	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 2012489	NM_203447.4(DOCK8):c.310C>T (p.Gln104Ter)	DOCK8, LOC126860552 (Q104* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive hyper-IgE syndrome	GPathogenic
Select item 2009476	NM_203447.4(DOCK8):c.247C>T (p.Leu83Phe)	DOCK8, LOC126860552 (L83F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 2007016	NM_203447.4(DOCK8):c.33G>A (p.Ala11=)	LOC130001437, DOCK8 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1991258	NM_203447.4(DOCK8):c.324G>A (p.Pro108=)	LOC126860552, DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1974510	NM_203447.4(DOCK8):c.296A>G (p.Glu99Gly)	DOCK8, LOC126860552 (E31G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 1962106	NM_203447.4(DOCK8):c.50A>G (p.Asn17Ser)	DOCK8, DOCK8-AS1 +1 more (N17S)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 1943338	NM_203447.4(DOCK8):c.303G>A (p.Arg101=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 1928084	NM_203447.4(DOCK8):c.298T>C (p.Cys100Arg)	DOCK8, LOC126860552 (C100R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 1920281	NM_203447.4(DOCK8):c.157-8C>A	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 1904981	NM_203447.4(DOCK8):c.202C>A (p.Leu68Met)	DOCK8, LOC126860552 (L68M)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 1899093	NM_203447.4(DOCK8):c.323C>T (p.Pro108Leu)	DOCK8, LOC126860552 (P108L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 1808777	GRCh37/hg19 9p24.3(chr9:265308-328178)x1	DOCK8	Copy number loss	not provided	GUncertain significance
Select item 1808131	GRCh37/hg19 9p24.3(chr9:335731-425611)x1	DOCK8	Copy number loss	not provided	GUncertain significance
Select item 1804645	NG_017007.1:g.1_236742del	DOCK8	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 1696052	NM_203447.4(DOCK8):c.230T>C (p.Val77Ala)	DOCK8, LOC126860552 (V77A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1660955	NM_203447.4(DOCK8):c.157-4C>G	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1646669	NM_203447.4(DOCK8):c.10C>T (p.Leu4=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1629803	NM_203447.4(DOCK8):c.204G>A (p.Leu68=)	DOCK8, LOC126860552	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1618584	NM_203447.4(DOCK8):c.157-13C>G	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1599932	NM_203447.4(DOCK8):c.53+14C>G	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GBenign
Select item 1586990	NM_203447.4(DOCK8):c.6C>T (p.Ala2=)	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1584749	NM_203447.4(DOCK8):c.165T>C (p.Phe55=)	DOCK8, LOC126860552	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1580593	NM_203447.4(DOCK8):c.276C>T (p.Asp92=)	LOC126860552, DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1554546	NM_203447.4(DOCK8):c.319T>C (p.Leu107=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1542539	NM_203447.4(DOCK8):c.53+12C>T	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1539998	NM_203447.4(DOCK8):c.157-6C>T	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1539078	NM_203447.4(DOCK8):c.332+18A>C	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1534159	NM_203447.4(DOCK8):c.157-20C>A	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 1527490	GRCh37/hg19 9p24.3(chr9:288826-402280)	DOCK8	Copy number loss	not specified	GUncertain significance
Select item 1527489	GRCh37/hg19 9p24.3(chr9:239666-402280)	DOCK8	Copy number gain	not specified	GUncertain significance

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