ClinVar for MedGen (Select 1648410) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24409921.	NM_203447.4(DOCK8):c.6147C>G (p.Asn2049Lys) GRCh37: Chr9:463595 GRCh38: Chr9:463595	DOCK8	N1949K, N1981K, N2049K	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Nov 27, 2019)	criteria provided, single submitter
Select item 24409912.	NM_203447.4(DOCK8):c.4474-26C>T GRCh37: Chr9:429676 GRCh38: Chr9:429676	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 24319143.	NC_000009.12:g.(333421_334903)del	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely pathogenic (Jan 16, 2023)	criteria provided, single submitter
Select item 24277264.	NC_000009.11:g.(?_463497)_(745235_?)dup GRCh37: Chr9:463497-745235	DOCK8, KANK1		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24277255.	NC_000009.11:g.(?_271607)_(464219_?)dup GRCh37: Chr9:271607-464219	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 24277246.	NC_000009.11:g.(?_367998)_(713484_?)dup GRCh37: Chr9:367998-713484	DOCK8, KANK1		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 24277237.	NC_000009.11:g.(?_338986)_(464219_?)dup GRCh37: Chr9:338986-464219	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 24277228.	NC_000009.11:g.(?_214977)_(286656_?)dup GRCh37: Chr9:214977-286656	DOCK8-AS1, DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 24277219.	NC_000009.11:g.(?_214977)_(340341_?)del GRCh37: Chr9:214977-340341	DOCK8, DOCK8-AS1		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 242772010.	NC_000009.11:g.(?_317023)_(418227_?)dup GRCh37: Chr9:317023-418227	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 242771911.	NC_000009.11:g.(?_432146)_(847163_?)dup GRCh37: Chr9:432146-847163	DMRT1, DOCK8, KANK1		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 242771812.	NC_000009.11:g.(?_404898)_(464219_?)dup GRCh37: Chr9:404898-464219	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 242771713.	NC_000009.11:g.(?_396765)_(464219_?)dup GRCh37: Chr9:396765-464219	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 242771614.	NC_000009.11:g.(?_382493)_(732637_?)dup GRCh37: Chr9:382493-732637	DOCK8, KANK1		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 242771515.	NC_000009.11:g.(?_271607)_(418227_?)dup GRCh37: Chr9:271607-418227	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 242771416.	NC_000009.11:g.(?_271607)_(336738_?)dup GRCh37: Chr9:271607-336738	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 242771317.	NC_000009.11:g.(?_367998)_(418227_?)dup GRCh37: Chr9:367998-418227	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 242771218.	NC_000009.11:g.(?_334205)_(464219_?)dup GRCh37: Chr9:334205-464219	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 242771119.	NC_000009.11:g.(?_214977)_(328191_?)dup GRCh37: Chr9:214977-328191	DOCK8, DOCK8-AS1		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 242771020.	NC_000009.11:g.(?_214977)_(325757_?)dup GRCh37: Chr9:214977-325757	DOCK8, DOCK8-AS1		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 242770921.	NC_000009.11:g.(?_214977)_(386446_?)dup GRCh37: Chr9:214977-386446	DOCK8, DOCK8-AS1		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 242770722.	NC_000009.11:g.(?_214977)_(336738_?)dup GRCh37: Chr9:214977-336738	DOCK8, DOCK8-AS1		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 242770623.	NC_000009.11:g.(?_325651)_(336738_?)del GRCh37: Chr9:325651-336738	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 242770524.	NC_000009.11:g.(?_311934)_(317148_?)del GRCh37: Chr9:311934-317148	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 242770425.	NC_000009.11:g.(?_304561)_(317148_?)del GRCh37: Chr9:304561-317148	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 242770326.	NC_000009.11:g.(?_304561)_(414971_?)del GRCh37: Chr9:304561-414971	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 242770227.	NC_000009.11:g.(?_399126)_(422155_?)del GRCh37: Chr9:399126-422155	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 242770128.	NC_000009.11:g.(?_396765)_(407089_?)del GRCh37: Chr9:396765-407089	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 242770029.	NC_000009.11:g.(?_390451)_(422155_?)del GRCh37: Chr9:390451-422155	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Jul 14, 2022)	criteria provided, single submitter
Select item 242769830.	NC_000009.11:g.(?_386311)_(407089_?)del GRCh37: Chr9:386311-407089	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 242769731.	NC_000009.11:g.(?_386311)_(396954_?)del GRCh37: Chr9:386311-396954	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 242769632.	NC_000009.11:g.(?_216117)_(399130_?)del GRCh37: Chr9:216117-399130	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 242769533.	NC_000009.11:g.(?_376190)_(377231_?)del GRCh37: Chr9:376190-377231	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 242769434.	NC_000009.11:g.(?_367998)_(464219_?)del GRCh37: Chr9:367998-464219	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 242769335.	NC_000009.11:g.(?_334205)_(452137_?)del GRCh37: Chr9:334205-452137	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 242769236.	NC_000009.11:g.(?_214977)_(368155_?)del GRCh37: Chr9:214977-368155	DOCK8, DOCK8-AS1		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Oct 27, 2022)	criteria provided, single submitter
Select item 242769137.	NC_000009.11:g.(?_426865)_(427001_?)del GRCh37: Chr9:426865-427001	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 242769038.	NC_000009.11:g.(?_334205)_(334404_?)del GRCh37: Chr9:334205-334404	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 242186639.	NM_203447.4(DOCK8):c.1968G>C (p.Gln656His) GRCh37: Chr9:371527 GRCh38: Chr9:371527	DOCK8	Q588H, Q656H	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 242121640.	NM_203447.4(DOCK8):c.2751_2753del (p.Glu918del) GRCh37: Chr9:382656-382658 GRCh38: Chr9:382656-382658	DOCK8	E850del, E918del	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 241753141.	NM_203447.4(DOCK8):c.221G>T (p.Ser74Ile) GRCh37: Chr9:286525 GRCh38: Chr9:286525	DOCK8, LOC126860552	S6I, S74I	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 241717242.	NM_203447.4(DOCK8):c.5355+18C>A GRCh37: Chr9:441435 GRCh38: Chr9:441435	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 241440143.	NM_203447.4(DOCK8):c.6240-16C>G GRCh37: Chr9:464143 GRCh38: Chr9:464143	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 241331644.	NM_203447.4(DOCK8):c.1644A>G (p.Pro548=) GRCh37: Chr9:340286 GRCh38: Chr9:340286	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 220239245.	NM_203447.4(DOCK8):c.5116T>G (p.Ser1706Ala) GRCh37: Chr9:439281 GRCh38: Chr9:439281	DOCK8	S1606A, S1706A, S1638A	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 220124946.	NM_203447.4(DOCK8):c.4269C>G (p.Ala1423=) GRCh37: Chr9:426912 GRCh38: Chr9:426912	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 220123747.	NM_203447.4(DOCK8):c.1286-20G>A GRCh37: Chr9:336562 GRCh38: Chr9:336562	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 219997048.	NM_203447.4(DOCK8):c.3889A>G (p.Met1297Val) GRCh37: Chr9:420449 GRCh38: Chr9:420449	DOCK8	M1229V, M1197V, M1297V	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 219980449.	NM_203447.4(DOCK8):c.843T>G (p.Ile281Met) GRCh37: Chr9:325686 GRCh38: Chr9:325686	DOCK8	I213M, I281M	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 219914750.	NM_203447.4(DOCK8):c.2779-20C>A GRCh37: Chr9:386311 GRCh38: Chr9:386311	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 219775951.	NM_203447.4(DOCK8):c.1798-8G>C GRCh37: Chr9:370222 GRCh38: Chr9:370222	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 219775052.	NM_203447.4(DOCK8):c.332+13C>A GRCh37: Chr9:286649 GRCh38: Chr9:286649	DOCK8, LOC126860552		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 219762853.	NM_203447.4(DOCK8):c.6234A>G (p.Gln2078=) GRCh37: Chr9:463682 GRCh38: Chr9:463682	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 219599454.	NM_203447.4(DOCK8):c.1710G>A (p.Leu570=) GRCh37: Chr9:368048 GRCh38: Chr9:368048	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 219493355.	NM_203447.4(DOCK8):c.157-13C>T GRCh37: Chr9:286448 GRCh38: Chr9:286448	DOCK8, LOC126860552		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 219407056.	NM_203447.4(DOCK8):c.3234+21_3234+22insCACCCCCGATGTCCCCCCCACCCCC GRCh37: Chr9:399264-399265 GRCh38: Chr9:399264-399265	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 219340757.	NM_203447.4(DOCK8):c.4340C>T (p.Ala1447Val) GRCh37: Chr9:428363 GRCh38: Chr9:428363	DOCK8	A1347V, A1447V, A1379V	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219284758.	NM_203447.4(DOCK8):c.14C>G (p.Pro5Arg) GRCh37: Chr9:214990 GRCh38: Chr9:214990	DOCK8, DOCK8-AS1	P5R	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 219278259.	NM_203447.4(DOCK8):c.3541G>A (p.Val1181Ile) GRCh37: Chr9:414792 GRCh38: Chr9:414792	DOCK8	V1113I, V1181I, V1081I	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 219250960.	NM_203447.4(DOCK8):c.1434C>T (p.Arg478=) GRCh37: Chr9:339017 GRCh38: Chr9:339017	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 219226361.	NM_203447.4(DOCK8):c.3784G>T (p.Ala1262Ser) GRCh37: Chr9:418151 GRCh38: Chr9:418151	DOCK8	A1162S, A1262S, A1194S	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 219226262.	NM_203447.4(DOCK8):c.3778G>T (p.Ala1260Ser) GRCh37: Chr9:418145 GRCh38: Chr9:418145	DOCK8	A1260S, A1192S, A1160S	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 219217163.	NM_203447.4(DOCK8):c.3530+18A>G GRCh37: Chr9:407087 GRCh38: Chr9:407087	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Dec 26, 2021)	criteria provided, single submitter
Select item 219079864.	NM_203447.4(DOCK8):c.5962-17T>A GRCh37: Chr9:451994 GRCh38: Chr9:451994	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 219065365.	NM_203447.4(DOCK8):c.2185G>C (p.Val729Leu) GRCh37: Chr9:376285 GRCh38: Chr9:376285	DOCK8	V661L, V729L	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 218875466.	NM_203447.4(DOCK8):c.2605+18G>A GRCh37: Chr9:379953 GRCh38: Chr9:379953	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 218857867.	NM_203447.4(DOCK8):c.369G>T (p.Gln123His) GRCh37: Chr9:289546 GRCh38: Chr9:289546	DOCK8	Q123H, Q55H	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 218842168.	NM_203447.4(DOCK8):c.157-4C>T GRCh37: Chr9:286457 GRCh38: Chr9:286457	DOCK8, LOC126860552		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 218779969.	NM_203447.4(DOCK8):c.4339-7C>T GRCh37: Chr9:428355 GRCh38: Chr9:428355	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 218734470.	NM_203447.4(DOCK8):c.1618C>T (p.Pro540Ser) GRCh37: Chr9:340260 GRCh38: Chr9:340260	DOCK8	P472S, P540S	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 218658771.	NM_203447.4(DOCK8):c.2007A>G (p.Ser669=) GRCh37: Chr9:371566 GRCh38: Chr9:371566	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 218526472.	NM_203447.4(DOCK8):c.4242-9_4242-7del GRCh37: Chr9:426871-426873 GRCh38: Chr9:426871-426873	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 218507073.	NM_203447.4(DOCK8):c.43A>C (p.Lys15Gln) GRCh37: Chr9:215019 GRCh38: Chr9:215019	DOCK8, DOCK8-AS1	K15Q	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 218399774.	NM_203447.4(DOCK8):c.3204G>A (p.Val1068=) GRCh37: Chr9:399229 GRCh38: Chr9:399229	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Feb 12, 2020)	criteria provided, single submitter
Select item 218397875.	NM_203447.4(DOCK8):c.379C>T (p.Arg127Cys) GRCh37: Chr9:289556 GRCh38: Chr9:289556	DOCK8	R127C, R59C	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 218263076.	NM_203447.4(DOCK8):c.4304T>C (p.Leu1435Ser) GRCh37: Chr9:426947 GRCh38: Chr9:426947	DOCK8	L1335S, L1367S, L1435S	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 218238277.	NM_203447.4(DOCK8):c.2852_2853insTTG (p.Ala951_Pro952insCys) GRCh37: Chr9:386404-386405 GRCh38: Chr9:386404-386405	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 218137478.	NM_203447.4(DOCK8):c.1423-15C>T GRCh37: Chr9:338991 GRCh38: Chr9:338991	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 218014279.	NM_203447.4(DOCK8):c.2779-18A>G GRCh37: Chr9:386313 GRCh38: Chr9:386313	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 217744980.	NM_203447.4(DOCK8):c.1868+1G>A GRCh37: Chr9:370301 GRCh38: Chr9:370301	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely pathogenic (Mar 19, 2022)	criteria provided, single submitter
Select item 217660581.	NM_203447.4(DOCK8):c.587C>G (p.Ala196Gly) GRCh37: Chr9:312012 GRCh38: Chr9:312012	DOCK8	A128G, A196G	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 217332482.	NM_203447.4(DOCK8):c.404+19A>G GRCh37: Chr9:289600 GRCh38: Chr9:289600	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 217243883.	NM_203447.4(DOCK8):c.1192C>T (p.Arg398Trp) GRCh37: Chr9:334291 GRCh38: Chr9:334291	DOCK8	R330W, R398W	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 217241884.	NM_203447.4(DOCK8):c.3459C>T (p.Tyr1153=) GRCh37: Chr9:406998 GRCh38: Chr9:406998	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 217181685.	NM_203447.4(DOCK8):c.3234+19C>T GRCh37: Chr9:399278 GRCh38: Chr9:399278	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 216932186.	NM_203447.4(DOCK8):c.5080-20T>A GRCh37: Chr9:439225 GRCh38: Chr9:439225	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 216873187.	NM_203447.4(DOCK8):c.5581-9C>T GRCh37: Chr9:446361 GRCh38: Chr9:446361	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216832588.	NM_203447.4(DOCK8):c.3003G>A (p.Met1001Ile) GRCh37: Chr9:396817 GRCh38: Chr9:396817	DOCK8	M901I, M933I, M1001I	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 216765089.	NM_203447.4(DOCK8):c.4515C>T (p.Phe1505=) GRCh37: Chr9:429743 GRCh38: Chr9:429743	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216555390.	NM_203447.4(DOCK8):c.5769C>T (p.His1923=) GRCh37: Chr9:446558 GRCh38: Chr9:446558	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216396491.	NM_203447.4(DOCK8):c.1285+18A>C GRCh37: Chr9:334402 GRCh38: Chr9:334402	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 216352092.	NM_203447.4(DOCK8):c.4153+20C>T GRCh37: Chr9:421098 GRCh38: Chr9:421098	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216346093.	NM_203447.4(DOCK8):c.5961+18del GRCh37: Chr9:449945 GRCh38: Chr9:449945	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 216319494.	NM_203447.4(DOCK8):c.1170C>T (p.Phe390=) GRCh37: Chr9:334269 GRCh38: Chr9:334269	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216269695.	NM_203447.4(DOCK8):c.2409C>T (p.Ser803=) GRCh37: Chr9:377180 GRCh38: Chr9:377180	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 216268496.	NM_203447.4(DOCK8):c.300T>C (p.Cys100=) GRCh37: Chr9:286604 GRCh38: Chr9:286604	DOCK8, LOC126860552		Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 216125397.	NM_203447.4(DOCK8):c.3754G>C (p.Ala1252Pro) GRCh37: Chr9:418121 GRCh38: Chr9:418121	DOCK8	A1152P, A1252P, A1184P	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 216067698.	NM_203447.4(DOCK8):c.3480C>A (p.Thr1160=) GRCh37: Chr9:407019 GRCh38: Chr9:407019	DOCK8		Combined immunodeficiency due to DOCK8 deficiency	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 215946499.	NM_203447.4(DOCK8):c.3637G>A (p.Ala1213Thr) GRCh37: Chr9:414888 GRCh38: Chr9:414888	DOCK8	A1145T, A1113T, A1213T	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 2159463100.	NM_203447.4(DOCK8):c.548A>G (p.Asn183Ser) GRCh37: Chr9:311973 GRCh38: Chr9:311973	DOCK8	N183S, N115S	Combined immunodeficiency due to DOCK8 deficiency	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter

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