Full data view for gene DOCK8

Information The variants shown are described using the NM_203447.3 transcript reference sequence.

295 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-10873_*7734780del r.0? p.0? Unknown - pathogenic g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.-298G>A r.(?) p.(=) Unknown - VUS g.214679G>A g.214679G>A C9orf66(NM_152569.2):c.718C>T (p.(Pro240Ser)) - C9orf66_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_19i c.-112_(2605+1_?)del r.? p.? Both (homozygous) ACMG pathogenic g.(?_24850)_(379936_?)del - del ex1-19, hg19 (24850-379936)x0 - DOCK8_000121 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - - IMD Pat30,1 PubMed: Stray-Pedersen 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Turkey - - - - - 2 Johan den Dunnen
+/. _1_48_ c.-112_*1040{0} r.0 p.0 Parent #1 - pathogenic (recessive) g.(?_214865)_(465259_?)del g.(?_214865)_(465259_?)del del coding sequence - DOCK8_000107 - - - - Germline - - - - - DNA SEQ - - ? private email contact me for details - - - Malaysia - - - - - 1 Johan den Dunnen
+/. _2_9_ c.[NM_004006.2:c.(9084+1_9085-1)ins(?_54)_(966_?) r.? p.? Unknown - VUS (!) g.[NC_000023.10:g.(31366752_31462597)]ins(?_271627)_(328093_?)inv g.[NC_000023.11:g.(31348635_31444480)]ins(?_271627)_(328093_?)inv - - DOCK8_000125 DOCK8 insertion in the DMD gene, origin DOCK8 sequences unknown PubMed: Kekou 2023 - - DUPLICATE record - - - - - DNA, RNA RT-PCR, SEQ - - BMD/DMD D688 PubMed: Kekou 2023 - M - Greece - - - - - 1 Johan den Dunnen
?/. - c.52A>G r.(?) p.(Arg18Gly) Unknown - VUS g.215028A>G g.215028A>G DOCK8(NM_203447.3):c.52A>G (p.R18G) - C9orf66_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53+163C>G r.(=) p.(=) Unknown - VUS g.215192C>G g.215192C>G C9orf66(NM_152569.2):c.205G>C (p.A69P) - C9orf66_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53+170_53+192del r.(=) p.(=) Unknown - VUS g.215199_215221del g.215199_215221del C9orf66(NM_152569.2):c.182_204delCAGGAGCCGCCGCGCGTCCAGCG (p.A61Gfs*57) - C9orf66_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53+358A>G r.(=) p.(=) Unknown - likely benign g.215387A>G g.215387A>G C9orf66(NM_152569.2):c.10T>C (p.S4P) - C9orf66_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.54-1G>T r.spl? p.? Unknown - pathogenic g.271626G>T g.271626G>T DOCK8(NM_203447.3):c.54-1G>T, DOCK8(NM_203447.4):c.54-1G>T - DOCK8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.54-1G>T r.spl? p.? Unknown - likely pathogenic g.271626G>T - DOCK8(NM_203447.3):c.54-1G>T, DOCK8(NM_203447.4):c.54-1G>T - DOCK8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.54-1G>T r.spl? p.? Unknown - likely pathogenic g.271626G>T - DOCK8(NM_203447.3):c.54-1G>T, DOCK8(NM_203447.4):c.54-1G>T - DOCK8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.65C>T r.(?) p.(Ala22Val) Unknown - benign g.271638C>T g.271638C>T DOCK8(NM_203447.3):c.65C>T (p.A22V), DOCK8(NM_203447.4):c.65C>T (p.A22V) - DOCK8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.65C>T r.(?) p.(Ala22Val) Unknown - benign g.271638C>T g.271638C>T DOCK8(NM_203447.3):c.65C>T (p.A22V), DOCK8(NM_203447.4):c.65C>T (p.A22V) - DOCK8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.76A>C r.(?) p.(Lys26Gln) Unknown other VUS g.271649A>C - - - DOCK8_000115 - - - - Germline ? 1/140 atopic dermatis patients - - - DNA SEQ-NG - Candidate gene seq ATOD - Journal: Perälä - ? ? Finland - - - - - 1 Eveliina Jakkula
?/. - c.157-1G>C r.spl? p.? Unknown - VUS g.286460G>C - - - DOCK8_000110 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.289C>A r.(?) p.(Pro97Thr) Unknown - benign g.286593C>A g.286593C>A DOCK8(NM_203447.3):c.289C>A (p.P97T), DOCK8(NM_203447.4):c.289C>A (p.P97T) - DOCK8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.289C>A r.(?) p.(Pro97Thr) Unknown - benign g.286593C>A g.286593C>A DOCK8(NM_203447.3):c.289C>A (p.P97T), DOCK8(NM_203447.4):c.289C>A (p.P97T) - DOCK8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.290C>T r.(?) p.(Pro97Leu) Unknown - likely benign g.286594C>T - DOCK8(NM_203447.3):c.290C>T (p.(Ser97Leu)) - C9orf66_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295G>A r.(?) p.(Glu99Lys) Both (homozygous) - VUS g.286599G>A g.286599G>A - - DOCK8_000106 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR133 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.305C>T r.(?) p.(Thr102Ile) Unknown ACMG VUS g.286609C>T - - - DOCK8_000120 - - - - Germline ? - - - - DNA SEQ-NG - Candidate gene seq ATOD - Journal: Perälä - ? ? Finland - - - - - 1 Eveliina Jakkula
-?/. - c.378C>G r.(?) p.(Ile126Met) Unknown - likely benign g.289555C>G g.289555C>G DOCK8(NM_203447.3):c.378C>G (p.I126M) - C9orf66_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - VUS g.289556C>T g.289556C>T DOCK8(NM_203447.3):c.379C>T (p.R127C) - DOCK8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.380G>A r.(?) p.(Arg127His) Unknown - likely benign g.289557G>A g.289557G>A DOCK8(NM_203447.3):c.380G>A (p.R127H), DOCK8(NM_203447.4):c.380G>A (p.R127H) - C9orf66_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.380G>A r.(?) p.(Arg127His) Unknown - likely benign g.289557G>A g.289557G>A DOCK8(NM_203447.3):c.380G>A (p.R127H), DOCK8(NM_203447.4):c.380G>A (p.R127H) - C9orf66_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.380G>A r.(?) p.(Arg127His) Unknown - likely benign g.289557G>A - DOCK8(NM_203447.3):c.380G>A (p.R127H), DOCK8(NM_203447.4):c.380G>A (p.R127H) - C9orf66_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.404+16del r.(=) p.(=) Unknown - benign g.289597del g.289597del DOCK8(NM_203447.3):c.404+16delT - DOCK8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405-7A>T r.(=) p.(=) Unknown - likely benign g.304574A>T - DOCK8(NM_203447.3):c.405-7A>T - C9orf66_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.452G>A r.(?) p.(Arg151Gln) Unknown - likely pathogenic g.304628G>A g.304628G>A NM_203447.3(DOCK8):c.452G>A p.(Arg151Gln) - DOCK8_000001 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-530A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
?/. - c.452G>A r.(?) p.(Arg151Gln) Unknown - VUS g.304628G>A g.304628G>A DOCK8(NM_203447.3):c.452G>A (p.R151Q), DOCK8(NM_203447.4):c.452G>A (p.R151Q) - DOCK8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.452G>A r.(?) p.(Arg151Gln) Unknown - VUS g.304628G>A - DOCK8(NM_203447.3):c.452G>A (p.R151Q), DOCK8(NM_203447.4):c.452G>A (p.R151Q) - DOCK8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.460T>A r.(?) p.(Phe154Ile) Unknown - likely benign g.304636T>A - DOCK8(NM_203447.3):c.460T>A (p.(Phe154Ile)) - C9orf66_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.470C>T r.(?) p.(Thr157Met) Unknown - likely benign g.304646C>T g.304646C>T DOCK8(NM_203447.3):c.470C>T (p.T157M) - C9orf66_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476C>T r.(?) p.(Pro159Leu) Unknown - VUS g.304652C>T g.304652C>T DOCK8(NM_001190458.1):c.272C>T (p.(Pro91Leu)) - DOCK8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.485C>T r.(?) p.(Thr162Met) Unknown - VUS g.304661C>T g.304661C>T DOCK8(NM_203447.3):c.485C>T (p.T162M) - DOCK8_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.485C>T r.(?) p.(Thr162Met) Unknown - likely benign g.304661C>T - DOCK8(NM_203447.3):c.485C>T (p.T162M) - DOCK8_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T r.(?) p.(Ser165Leu) Unknown - likely benign g.304670C>T g.304670C>T DOCK8(NM_203447.3):c.494C>T (p.S165L) - DOCK8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T r.(?) p.(Ser165Leu) Unknown - likely benign g.304670C>T g.304670C>T DOCK8(NM_203447.3):c.494C>T (p.S165L) - DOCK8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528+7C>A r.(=) p.(=) Unknown - likely benign g.304711C>A - DOCK8(NM_203447.3):c.528+7C>A - C9orf66_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.528+13A>G r.(=) p.(=) Unknown - benign g.304717A>G - DOCK8(NM_203447.3):c.528+13A>G - C9orf66_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529-140C>G r.(=) p.(=) Unknown - benign g.311814C>G g.311814C>G DOCK8(NM_203447.3):c.529-140C>G - DOCK8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.559G>A r.(?) p.(Asp187Asn) Unknown - likely benign g.311984G>A - DOCK8(NM_203447.3):c.559G>A (p.D187N) - C9orf66_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578C>G r.(?) p.(Pro193Arg) Unknown - likely benign g.312003C>G g.312003C>G DOCK8(NM_203447.3):c.578C>G (p.P193R) - C9orf66_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580G>A r.(?) p.(Val194Ile) Unknown - likely benign g.312005G>A g.312005G>A DOCK8(NM_203447.3):c.580G>A (p.V194I) - DOCK8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580G>A r.(?) p.(Val194Ile) Unknown - likely benign g.312005G>A - DOCK8(NM_203447.3):c.580G>A (p.V194I) - DOCK8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622A>G r.(?) p.(Lys208Glu) Unknown other VUS g.312047A>G - - - DOCK8_000116 - Journal: Perälä 2023 - - Germline ? 1/140 atopic dermatis patients - - - DNA SEQ-NG - candidate gene sequencing ATOD - Journal: Perälä 2023 - ? ? Finland - - - - - 1 Eveliina Jakkula
-?/. - c.623A>G r.(?) p.(Lys208Arg) Unknown - likely benign g.312048A>G g.312048A>G DOCK8(NM_203447.3):c.623A>G (p.K208R) - C9orf66_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663C>A r.(?) p.(Asp221Glu) Unknown - likely benign g.312088C>A g.312088C>A DOCK8(NM_203447.3):c.663C>A (p.D221E), DOCK8(NM_203447.4):c.663C>A (p.D221E) - DOCK8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.663C>A r.(?) p.(Asp221Glu) Unknown - VUS g.312088C>A - DOCK8(NM_203447.3):c.663C>A (p.D221E), DOCK8(NM_203447.4):c.663C>A (p.D221E) - DOCK8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679G>A r.(?) p.(Glu227Lys) Unknown - VUS g.312104G>A g.312104G>A DOCK8(NM_001190458.1):c.475G>A (p.(Glu159Lys)), DOCK8(NM_203447.3):c.679G>A (p.E227K) - DOCK8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.679G>A r.(?) p.(Glu227Lys) Unknown - benign g.312104G>A g.312104G>A DOCK8(NM_001190458.1):c.475G>A (p.(Glu159Lys)), DOCK8(NM_203447.3):c.679G>A (p.E227K) - DOCK8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.679G>A r.(?) p.(Glu227Lys) Unknown - benign g.312104G>A - DOCK8(NM_001190458.1):c.475G>A (p.(Glu159Lys)), DOCK8(NM_203447.3):c.679G>A (p.E227K) - DOCK8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685G>C r.(?) p.(Ala229Pro) Unknown - likely benign g.312110G>C g.312110G>C DOCK8(NM_203447.3):c.685G>C (p.A229P) - C9orf66_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.688C>T r.(?) p.(Arg230Trp) Unknown - VUS g.312113C>T - DOCK8(NM_203447.4):c.688C>T (p.R230W) - C9orf66_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.689G>A r.(?) p.(Arg230Gln) Unknown - VUS g.312114G>A - DOCK8(NM_203447.4):c.689G>A (p.R230Q) - C9orf66_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699T>C r.(?) p.(Asn233=) Unknown - benign g.312124T>C g.312124T>C DOCK8(NM_203447.4):c.699T>C (p.N233=) - DOCK8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.709G>A r.(?) p.(Glu237Lys) Unknown - benign g.312134G>A g.312134G>A DOCK8(NM_001190458.1):c.505G>A (p.(Glu169Lys)), DOCK8(NM_203447.3):c.709G>A (p.E237K) - DOCK8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.709G>A r.(?) p.(Glu237Lys) Unknown - likely benign g.312134G>A g.312134G>A DOCK8(NM_001190458.1):c.505G>A (p.(Glu169Lys)), DOCK8(NM_203447.3):c.709G>A (p.E237K) - DOCK8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.709G>A r.(?) p.(Glu237Lys) Parent #1 - likely benign g.312134G>A g.312134G>A - - DOCK8_000015 231 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11789099 Germline - 231/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 231 Mohammed Faruq
-?/. - c.709G>A r.(?) p.(Glu237Lys) Both (homozygous) - likely benign g.312134G>A g.312134G>A - - DOCK8_000015 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11789099 Germline - 9/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.745G>A r.(?) p.(Asp249Asn) Unknown - VUS g.317046G>A - DOCK8(NM_203447.3):c.745G>A (p.D249N) - C9orf66_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i_23i c.(827+1_828-1)_(2874+1_2875-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(317131_325672)_(386427_390470)del g.(317131_325672)_(386427_390470)del del ex8-23 - DOCK8_000108 - - - - Germline - - - - - DNA SEQ - - ? private email contact me for details - - - Malaysia - - - - - 1 Johan den Dunnen
?/. - c.874G>A r.(?) p.(Asp292Asn) Unknown - VUS g.325717G>A - DOCK8(NM_203447.3):c.874G>A (p.D292N) - C9orf66_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.894+74_894+75insC r.(=) p.(=) Unknown - benign g.325811_325812insC g.325811_325812insC DOCK8(NM_203447.3):c.894+74_894+75insC - C9orf66_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.895-16T>C r.(=) p.(=) Unknown - benign g.328006T>C g.328006T>C DOCK8(NM_203447.3):c.895-16T>C, DOCK8(NM_203447.4):c.895-16T>C - DOCK8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.895-16T>C r.(=) p.(=) Unknown - benign g.328006T>C g.328006T>C DOCK8(NM_203447.3):c.895-16T>C, DOCK8(NM_203447.4):c.895-16T>C - DOCK8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.914G>T r.(?) p.(Cys305Phe) Unknown - likely benign g.328041G>T g.328041G>T DOCK8(NM_203447.3):c.914G>T (p.C305F) - C9orf66_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.935T>C r.(?) p.(Phe312Ser) Unknown - VUS g.328062T>C - DOCK8(NM_203447.3):c.935T>C (p.(Ile312Thr)) - C9orf66_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986C>T r.(?) p.(Ala329Val) Parent #1 - VUS g.328113C>T g.328113C>T - - DOCK8_000104 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75352090 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.986C>T r.(?) p.(Ala329Val) Unknown - VUS g.328113C>T - - - DOCK8_000104 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+?/. - c.1016C>T r.(?) p.(Pro339Leu) Unknown - likely pathogenic g.328143C>T g.328143C>T DOCK8(NM_203447.3):c.1016C>T (p.P339L) - DOCK8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016C>T r.(?) p.(Pro339Leu) Unknown - VUS g.328143C>T - DOCK8(NM_203447.3):c.1016C>T (p.P339L) - DOCK8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1036G>A r.(?) p.(Val346Ile) Unknown - VUS g.328163G>A - - - DOCK8_000109 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1072A>G r.(?) p.(Ile358Val) Unknown - VUS g.332425A>G g.332425A>G DOCK8(NM_001190458.1):c.868A>G (p.(Ile290Val)) - DOCK8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1090C>T r.(?) p.(Pro364Ser) Unknown - VUS g.332443C>T g.332443C>T DOCK8(NM_001190458.1):c.886C>T (p.(Pro296Ser)) - DOCK8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1098G>A r.(?) p.(Thr366=) Unknown - likely benign g.332451G>A g.332451G>A DOCK8(NM_203447.3):c.1098G>A (p.T366=) - C9orf66_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1125+18T>C r.(=) p.(=) Unknown - likely benign g.332496T>C - DOCK8(NM_203447.3):c.1125+18T>C - C9orf66_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1126-3C>T r.spl? p.? Unknown - likely benign g.334222C>T - DOCK8(NM_203447.4):c.1126-3C>T - C9orf66_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1151A>G r.(?) p.(Lys384Arg) Unknown other VUS g.334250A>G - - - DOCK8_000117 - - - - Germline - 1/140 atopic dermatis patients - - - DNA SEQ-NG - - ATOD - Journal: Perälä - ? ? Finland - - - - - 1 Eveliina Jakkula
?/. - c.1178G>A r.(?) p.(Arg393His) Unknown - VUS g.334277G>A - DOCK8(NM_203447.3):c.1178G>A (p.R393H) - C9orf66_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1192C>T r.(?) p.(Arg398Trp) Unknown - VUS g.334291C>T - DOCK8(NM_203447.4):c.1192C>T (p.(Arg398Trp)) - C9orf66_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1238A>G r.(?) p.(Asn413Ser) Unknown - benign g.334337A>G g.334337A>G DOCK8(NM_203447.3):c.1238A>G (p.N413S) - DOCK8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1285+1G>A r.spl? p.? Unknown - pathogenic g.334385G>A g.334385G>A DOCK8(NM_203447.3):c.1285+1G>A, DOCK8(NM_203447.4):c.1285+1G>A - DOCK8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1285+1G>A r.spl? p.? Unknown - VUS g.334385G>A - DOCK8(NM_203447.3):c.1285+1G>A, DOCK8(NM_203447.4):c.1285+1G>A - DOCK8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1286-5T>A r.spl? p.? Unknown - likely benign g.336577T>A - DOCK8(NM_203447.3):c.1286-5T>A - C9orf66_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1286G>A r.(?) p.(Gly429Glu) Unknown - likely benign g.336582G>A - DOCK8(NM_203447.3):c.1286G>A (p.G429E) - C9orf66_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1422+18A>T r.(=) p.(=) Unknown - likely benign g.336736A>T - DOCK8(NM_203447.3):c.1422+18A>T - C9orf66_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1422+101G>T r.(=) p.(=) Unknown - benign g.336819G>T g.336819G>T DOCK8(NM_203447.3):c.1422+101G>T - DOCK8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1526G>C r.(?) p.(Arg509Thr) Unknown - likely benign g.340168G>C g.340168G>C DOCK8(NM_203447.3):c.1526G>C (p.R509T) - C9orf66_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1587C>G r.(?) p.(Pro529=) Unknown - benign g.340229C>G g.340229C>G DOCK8(NM_203447.3):c.1587C>G (p.P529=) - C9orf66_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1623C>G r.(?) p.(His541Gln) Unknown - VUS g.340265C>G - DOCK8(NM_203447.4):c.1623C>G (p.H541Q) - DOCK8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1679+18G>A r.(=) p.(=) Unknown - benign g.340339G>A g.340339G>A DOCK8(NM_203447.3):c.1679+18G>A - DOCK8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1680-2431del r.(=) p.(=) Unknown - benign g.365587del g.365587del DOCK8(NM_203447.3):c.1680-2431delT - DOCK8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1683C>A r.(?) p.(Asn561Lys) Unknown - likely benign g.368021C>A g.368021C>A DOCK8(NM_001190458.1):c.1479C>A (p.(Asn493Lys)), DOCK8(NM_203447.3):c.1683C>A (p.N561K), DOCK8(NM_203447.4):c.1683C>A (p.N561K) - C9orf66_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1683C>A r.(?) p.(Asn561Lys) Unknown - VUS g.368021C>A - DOCK8(NM_001190458.1):c.1479C>A (p.(Asn493Lys)), DOCK8(NM_203447.3):c.1683C>A (p.N561K), DOCK8(NM_203447.4):c.1683C>A (p.N561K) - C9orf66_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1683C>A r.(?) p.(Asn561Lys) Unknown - VUS g.368021C>A - DOCK8(NM_001190458.1):c.1479C>A (p.(Asn493Lys)), DOCK8(NM_203447.3):c.1683C>A (p.N561K), DOCK8(NM_203447.4):c.1683C>A (p.N561K) - C9orf66_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1790C>T r.(?) p.(Ala597Val) Unknown - benign g.368128C>T g.368128C>T DOCK8(NM_203447.4):c.1790C>T (p.A597V) - DOCK8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790C>T r.(?) p.(Ala597Val) Parent #1 - likely benign g.368128C>T g.368128C>T - - DOCK8_000031 79 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17673268 Germline - 79/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 79 Mohammed Faruq
-?/. - c.1790C>T r.(?) p.(Ala597Val) Both (homozygous) - likely benign g.368128C>T g.368128C>T - - DOCK8_000031 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17673268 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.(?_1790)_(6064_?)del r.? p.? Both (homozygous) ACMG pathogenic g.(?_368128)_(452113_?)del - hg19 (368128-452113)x0 - DOCK8_000122 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - - IMD Pat81,1 PubMed: Stray-Pedersen 2017 family, 2 affected F - - Middle East - - - - 2 Johan den Dunnen
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