ClinVar for Gene (Select 81704) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 3008

<< First< Prev

Page of 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358439	NM_203447.4(DOCK8):c.3285G>A (p.Glu1095=)	DOCK8	Single nucleotide variant (synonymous variant)	DOCK8-related disorder	GLikely benign
Select item 3350871	NM_203447.4(DOCK8):c.4338+3G>A	DOCK8	Single nucleotide variant (intron variant)	DOCK8-related disorder	GLikely benign
Select item 3350493	NM_203447.4(DOCK8):c.3302G>A (p.Cys1101Tyr)	DOCK8 (C1001Y +2 more)	Single nucleotide variant (missense variant)	DOCK8-related disorder	GUncertain significance
Select item 3349665	NM_203447.4(DOCK8):c.3985G>T (p.Asp1329Tyr)	DOCK8 (D1229Y +2 more)	Single nucleotide variant (missense variant)	DOCK8-related disorder	GUncertain significance
Select item 3341295	NM_203447.4(DOCK8):c.4659G>T (p.Met1553Ile)	DOCK8 (M1453I +2 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 3339644	NM_203447.4(DOCK8):c.6217T>C (p.Phe2073Leu)	DOCK8 (F1973L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273424	NM_203447.4(DOCK8):c.965C>T (p.Ser322Leu)	DOCK8 (S254L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273423	NM_203447.4(DOCK8):c.1513C>A (p.Pro505Thr)	DOCK8 (P505T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273422	NM_203447.4(DOCK8):c.1261G>A (p.Val421Ile)	DOCK8 (V353I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273421	NM_203447.4(DOCK8):c.1252G>C (p.Glu418Gln)	DOCK8 (E350Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273420	NM_203447.4(DOCK8):c.989G>C (p.Arg330Thr)	DOCK8 (R330T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3273416	NM_203447.4(DOCK8):c.1581G>A (p.Met527Ile)	DOCK8 (M459I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273414	NM_203447.4(DOCK8):c.4549A>G (p.Ser1517Gly)	DOCK8 (S1449G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256925	NM_203447.4(DOCK8):c.4154-1G>C	DOCK8	Single nucleotide variant (splice acceptor variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3245366	NC_000009.11:g.(?_334205)_(847163_?)dup	DMRT1, DOCK8 +1 more	Duplication	not provided	GUncertain significance
Select item 3245348	NC_000009.11:g.(?_304561)_(677029_?)dup	DOCK8, KANK1	Duplication	not provided	GUncertain significance
Select item 3245347	NC_000009.11:g.(?_214977)_(2729727_?)dup	DMRT1, DMRT2 +7 more	Duplication	not provided	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 3245217	NC_000009.11:g.(?_338986)_(745235_?)dup	DOCK8, KANK1	Duplication		GUncertain significance
Select item 3245216	NC_000009.11:g.(?_332378)_(464219_?)dup	DOCK8	Duplication		GUncertain significance
Select item 3245215	NC_000009.11:g.(?_214977)_(442029_?)dup	DOCK8, DOCK8-AS1	Duplication		GUncertain significance
Select item 3245214	NC_000009.11:g.(?_214977)_(427001_?)dup	DOCK8, DOCK8-AS1	Duplication		GUncertain significance
Select item 3245213	NC_000009.11:g.(?_214977)_(377231_?)dup	DOCK8, DOCK8-AS1	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 3245207	NC_000009.11:g.(?_214977)_(312186_?)del	DOCK8, DOCK8-AS1	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 3242331	GRCh37/hg19 9p24.3(chr9:204053-695537)x1	DOCK8, DOCK8-AS1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 3239602	NM_203447.4(DOCK8):c.4661C>T (p.Ser1554Phe)	DOCK8 (S1454F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3085113	NM_203447.4(DOCK8):c.650T>G (p.Val217Gly)	DOCK8 (V149G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085112	NM_203447.4(DOCK8):c.592G>T (p.Asp198Tyr)	DOCK8 (D198Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085109	NM_203447.4(DOCK8):c.4732T>A (p.Leu1578Met)	DOCK8 (L1578M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085108	NM_203447.4(DOCK8):c.4335C>G (p.Ile1445Met)	DOCK8 (I1445M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085107	NM_203447.4(DOCK8):c.431G>T (p.Gly144Val)	DOCK8 (G144V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085106	NM_203447.4(DOCK8):c.3686T>A (p.Leu1229His)	DOCK8 (L1129H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085105	NM_203447.4(DOCK8):c.3352A>G (p.Thr1118Ala)	DOCK8 (T1018A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085103	NM_203447.4(DOCK8):c.3137A>G (p.Glu1046Gly)	DOCK8 (E978G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085102	NM_203447.4(DOCK8):c.1127G>A (p.Ser376Asn)	DOCK8 (S308N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085101	NM_203447.4(DOCK8):c.1072A>G (p.Ile358Val)	DOCK8 (I290V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063119	GRCh37/hg19 9p24.3(chr9:203862-328082)x1	DOCK8, DOCK8-AS1	Copy number loss	not specified	GUncertain significance
Select item 3063118	GRCh37/hg19 9p24.3(chr9:203862-265340)x1	DOCK8, DOCK8-AS1	Copy number loss	not specified	GUncertain significance
Select item 3063114	GRCh37/hg19 9p24.3(chr9:203861-268740)x1	DOCK8, DOCK8-AS1	Copy number loss	not specified	GUncertain significance
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063075	GRCh37/hg19 9p24.3(chr9:203861-322786)x1	DOCK8, DOCK8-AS1	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3063069	GRCh37/hg19 9p24.3(chr9:209753-236828)x1	DOCK8, DOCK8-AS1	Copy number loss	not specified	GUncertain significance
Select item 3063067	GRCh37/hg19 9p24.3(chr9:209753-246900)x1	DOCK8, DOCK8-AS1	Copy number loss	not specified	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 3052605	NM_203447.4(DOCK8):c.1404T>C (p.Val468=)	DOCK8	Single nucleotide variant (synonymous variant)	DOCK8-related disorder	GLikely benign
Select item 3052118	NM_203447.4(DOCK8):c.2971-3C>T	DOCK8	Single nucleotide variant (intron variant)	DOCK8-related disorder	GLikely benign
Select item 3049483	NM_203447.4(DOCK8):c.5490+3A>T	DOCK8	Single nucleotide variant (intron variant)	DOCK8-related disorder	GLikely benign
Select item 3047441	NM_203447.4(DOCK8):c.1423-8C>G	DOCK8	Single nucleotide variant (intron variant)	DOCK8-related disorder	GLikely benign
Select item 3047358	NM_203447.4(DOCK8):c.6108G>A (p.Thr2036=)	DOCK8	Single nucleotide variant (synonymous variant)	DOCK8-related disorder	GLikely benign
Select item 3045865	NM_203447.4(DOCK8):c.1455C>T (p.Phe485=)	DOCK8	Single nucleotide variant (synonymous variant)	DOCK8-related disorder	GLikely benign
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 3036823	NM_203447.4(DOCK8):c.1797+71G>A	DOCK8	Single nucleotide variant (intron variant)	DOCK8-related disorder	GLikely benign
Select item 3033954	NM_203447.4(DOCK8):c.3625G>C (p.Val1209Leu)	DOCK8 (V1109L +2 more)	Single nucleotide variant (missense variant)	DOCK8-related disorder	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 3023539	NM_203447.4(DOCK8):c.529-13T>A	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 3023520	NM_203447.4(DOCK8):c.553C>T (p.Leu185=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 3023099	NM_203447.4(DOCK8):c.3390+15A>G	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 3022646	NM_203447.4(DOCK8):c.4023+10G>C	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 3020036	NM_203447.4(DOCK8):c.1353C>T (p.Ser451=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 3019068	NM_203447.4(DOCK8):c.366T>G (p.Val122=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 3015838	NM_203447.4(DOCK8):c.1348C>T (p.Leu450Phe)	DOCK8 (L450F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 3014012	NM_203447.4(DOCK8):c.5556C>T (p.Asp1852=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 3013558	NM_203447.4(DOCK8):c.3234+13C>T	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign
Select item 3009399	NM_203447.4(DOCK8):c.347C>G (p.Pro116Arg)	DOCK8 (P48R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome	GUncertain significance
Select item 3007635	NM_203447.4(DOCK8):c.3531-10G>A	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome	GLikely benign

<< First< Prev

Page of 31