All variants in the DOCK6 gene

Information The variants shown are described using the NM_020812.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.38T>C r.(?) p.(Ile13Thr) - likely benign g.11373079A>G g.11262403A>G DOCK6(NM_020812.3):c.38T>C (p.I13T, p.(Ile13Thr)) - C19orf80_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.38T>C r.(?) p.(Ile13Thr) - likely benign g.11373079A>G - DOCK6(NM_020812.3):c.38T>C (p.I13T, p.(Ile13Thr)) - C19orf80_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.100C>A r.(?) p.(His34Asn) - likely benign g.11364347G>T g.11253671G>T DOCK6(NM_020812.3):c.100C>A (p.(His34Asn)) - C19orf80_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.100C>G r.(?) p.(His34Asp) - VUS g.11364347G>C g.11253671G>C - - DOCK6_000018 - - - rs201065561 Unknown ? 1/156 chromosomes - - - Maja Sukalo
-?/. - c.100C>G r.(?) p.(His34Asp) - likely benign g.11364347G>C g.11253671G>C DOCK6(NM_020812.3):c.100C>G (p.(His34Asp)) - DOCK6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.112C>T r.(?) p.(Arg38Cys) - VUS g.11364335G>A - DOCK6(NM_020812.3):c.112C>T (p.(Arg38Cys)) - C19orf80_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.132+1del r.spl? p.? - likely pathogenic g.11364318del g.11253642del DOCK6(NM_020812.3):c.132+1delG - DOCK6_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.132+1G>T r.spl? p.? - likely pathogenic g.11364314C>A - DOCK6(NM_020812.4):c.132+1G>T - C19orf80_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.133G>A r.(?) p.(Val45Ile) - likely benign g.11363634C>T g.11252958C>T DOCK6(NM_001367830.1):c.133G>A (p.V45I), DOCK6(NM_020812.3):c.133G>A (p.(Val45Ile)) - C19orf80_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.133G>A r.(?) p.(Val45Ile) - VUS g.11363634C>T - DOCK6(NM_001367830.1):c.133G>A (p.V45I), DOCK6(NM_020812.3):c.133G>A (p.(Val45Ile)) - C19orf80_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.154G>A r.(?) p.(Glu52Lys) - VUS g.11363613C>T - DOCK6(NM_020812.3):c.154G>A (p.(Glu52Lys)) - C19orf80_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.278G>A r.(?) p.(Arg93Gln) - VUS g.11363489C>T - DOCK6(NM_020812.4):c.278G>A (p.(Arg93Gln)) - C19orf80_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.292G>A r.(?) p.(Gly98Arg) - likely benign g.11363475C>T g.11252799C>T DOCK6(NM_020812.3):c.292G>A (p.(Gly98Arg)), DOCK6(NM_020812.4):c.292G>A (p.G98R) - DOCK6_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.292G>A r.(?) p.(Gly98Arg) - likely benign g.11363475C>T - DOCK6(NM_020812.3):c.292G>A (p.(Gly98Arg)), DOCK6(NM_020812.4):c.292G>A (p.G98R) - DOCK6_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.364A>G r.(?) p.(Ile122Val) - likely benign g.11363171T>C - DOCK6(NM_020812.3):c.364A>G (p.(Ile122Val)) - C19orf80_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.377+12T>A r.(=) p.(=) - benign g.11363146A>T g.11252470A>T DOCK6(NM_020812.4):c.377+12T>A - DOCK6_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.377+12T>A r.(=) p.(=) - benign g.11363146A>T g.11252470A>T DOCK6(NM_020812.4):c.377+12T>A - DOCK6_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.434G>A r.(?) p.(Arg145Gln) - benign g.11362868C>T g.11252192C>T DOCK6(NM_020812.3):c.434G>A (p.R145Q, p.(Arg145Gln)) - C19orf80_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.434G>A r.(?) p.(Arg145Gln) - likely benign g.11362868C>T g.11252192C>T DOCK6(NM_020812.3):c.434G>A (p.R145Q, p.(Arg145Gln)) - C19orf80_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.441G>C r.(?) p.(Lys147Asn) - likely benign g.11362861C>G g.11252185C>G DOCK6(NM_001367830.1):c.441G>C (p.K147N), DOCK6(NM_020812.3):c.441G>C (p.(Lys147Asn)) - C19orf80_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.441G>C r.(?) p.(Lys147Asn) - likely benign g.11362861C>G - DOCK6(NM_001367830.1):c.441G>C (p.K147N), DOCK6(NM_020812.3):c.441G>C (p.(Lys147Asn)) - C19orf80_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.451C>T r.(?) p.(Arg151Cys) - VUS g.11362851G>A g.11252175G>A DOCK6(NM_020812.3):c.451C>T (p.(Arg151Cys)) - DOCK6_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 5 c.484G>T r.(?) p.(Glu162*) - likely pathogenic g.11362818C>A g.11252142C>A - - DOCK6_000016 - - - - Unknown - - - - - Maja Sukalo
-?/. - c.493G>A r.(?) p.(Gly165Ser) - likely benign g.11362809C>T g.11252133C>T DOCK6(NM_020812.3):c.493G>A (p.G165S) - C19orf80_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.517C>T r.(?) p.(Arg173Trp) - likely benign g.11361753G>A g.11251077G>A DOCK6(NM_020812.3):c.517C>T (p.(Arg173Trp)) - DOCK6_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.521G>A r.(?) p.(Arg174His) - likely benign g.11361749C>T g.11251073C>T DOCK6(NM_020812.3):c.521G>A (p.(Arg174His)) - C19orf80_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.620T>C r.(?) p.(Leu207Pro) - VUS g.11361650A>G g.11250974A>G DOCK6(NM_020812.3):c.620T>C (p.(Leu207Pro)) - DOCK6_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.650G>A r.(?) p.(Arg217Gln) - likely benign g.11361620C>T - DOCK6(NM_020812.3):c.650G>A (p.(Arg217Gln)) - C19orf80_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.652C>T r.(?) p.(Arg218Cys) - likely benign g.11361618G>A - DOCK6(NM_020812.3):c.652C>T (p.(Arg218Cys)) - C19orf80_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.720+7del r.(=) p.(=) - likely benign g.11361543del - DOCK6(NM_001367830.1):c.720+7delG - C19orf80_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.745C>T r.(?) p.(Arg249Cys) - VUS g.11358803G>A g.11248127G>A DOCK6(NM_020812.3):c.745C>T (p.(Arg249Cys)) - DOCK6_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.749C>T r.(?) p.(Pro250Leu) - benign g.11358799G>A g.11248123G>A DOCK6(NM_020812.4):c.749C>T (p.P250L) - DOCK6_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.749C>T r.(?) p.(Pro250Leu) - benign g.11358799G>A g.11248123G>A DOCK6(NM_020812.4):c.749C>T (p.P250L) - DOCK6_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.760C>T r.(?) p.(Arg254Cys) - likely benign g.11358788G>A g.11248112G>A DOCK6(NM_020812.3):c.760C>T (p.(Arg254Cys)) - DOCK6_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 7 c.788T>A r.(?) p.(Val263Asp) - likely pathogenic g.11358760A>T g.11248084A>T - - DOCK6_000012 - - - - Unknown - - - - - Maja Sukalo
+?/. 7 c.788T>A r.(?) p.(Val263Asp) - likely pathogenic g.11358760A>T g.11248084A>T - - DOCK6_000012 - - - - Unknown - - - - - Maja Sukalo
?/. - c.860G>A r.(?) p.(Arg287Gln) - VUS g.11356501C>T - DOCK6(NM_020812.4):c.860G>A (p.R287Q) - C19orf80_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.880G>C r.(?) p.(Glu294Gln) ACMG likely pathogenic (recessive) g.11356382C>G g.11245706C>G - - DOCK6_000087 - - - - Germline yes - - - - Maria Elena García Paya
-?/. 9 c.885C>T r.(=) p.(=) - likely benign g.11356377G>A g.11245701G>A - - DOCK6_000019 - - - rs146599144 Unknown - 2/156 chromosomes - - - Maja Sukalo
-?/. 9 c.885C>T r.(=) p.(=) - likely benign g.11356377G>A g.11245701G>A - - DOCK6_000019 - - - rs146599144 Unknown - 2/156 chromosomes - - - Johan den Dunnen
-?/. - c.885C>T r.(?) p.(Asn295=) - likely benign g.11356377G>A g.11245701G>A DOCK6(NM_020812.4):c.885C>T (p.N295=) - DOCK6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.906G>C r.(?) p.(Ser302=) - likely benign g.11356356C>G g.11245680C>G DOCK6(NM_001367830.1):c.906G>C (p.S302=) - C19orf80_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 9i_21i c.(1023+1_1024+1)_(2554+1_2555-1)del r.(?) p.(Leu342Glyfs*5) ACMG likely pathogenic (recessive) g.(?_11346274)_(11354558_?)del g.(?_11235598)_(11243882_?)del - - DOCK6_000086 - - - - Germline yes - - - - Martin Zenker
?/. - c.1041G>C r.(?) p.(Gln347His) - VUS g.11354541C>G - DOCK6(NM_020812.3):c.1041G>C (p.(Gln347His)) - C19orf80_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 11 c.1245dup r.(?) p.(Asp416*) - likely pathogenic g.11354246dup g.11243570dup - - DOCK6_000002 - PubMed: Shaheen 2011, OMIM:var0002 - - Germline - - - - - Maja Sukalo
?/. 12 c.1289G>A r.(?) p.(Arg430His) - VUS g.11354031C>T g.11243355C>T - - DOCK6_000020 - - - rs143655255 Unknown - 1/156 chromosomes - - - Johan den Dunnen
-?/. - c.1289G>A r.(?) p.(Arg430His) - likely benign g.11354031C>T g.11243355C>T DOCK6(NM_020812.3):c.1289G>A (p.R430H, p.(Arg430His)), DOCK6(NM_020812.4):c.1289G>A (p.R430H) - DOCK6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1289G>A r.(?) p.(Arg430His) - likely benign g.11354031C>T g.11243355C>T DOCK6(NM_020812.3):c.1289G>A (p.R430H, p.(Arg430His)), DOCK6(NM_020812.4):c.1289G>A (p.R430H) - DOCK6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1289G>A r.(?) p.(Arg430His) - likely benign g.11354031C>T g.11243355C>T DOCK6(NM_020812.3):c.1289G>A (p.R430H, p.(Arg430His)), DOCK6(NM_020812.4):c.1289G>A (p.R430H) - DOCK6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 12 c.1296_1297delinsT r.(?) p.(Gln434Argfs*21) - likely pathogenic g.11354023_11354024delinsA g.11243347_11243348delinsA - - DOCK6_000009 - - - - Unknown - - - - - Maja Sukalo
-?/. - c.1326C>T r.(?) p.(Asp442=) - likely benign g.11353994G>A g.11243318G>A DOCK6(NM_020812.3):c.1326C>T (p.D442=) - C19orf80_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1351C>G r.(?) p.(Pro451Ala) - VUS g.11353969G>C g.11243293G>C - - DOCK6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 12 c.1358C>T r.(?) p.(Thr453Met) - likely pathogenic g.11353962G>A g.11243286G>A - - DOCK6_000021 - - - - Unknown ? - - - - Maja Sukalo
?/. - c.1358C>T r.(?) p.(Thr453Met) - VUS g.11353962G>A - - - DOCK6_000021 - - - - Germline - - - - - Alejandro Brea-Fernández
+/. - c.1360_1363del r.(?) p.(Thr455Serfs*24) - pathogenic (recessive) g.11353957_11353960del g.11243281_11243284del NM_020812.2:c.1362_1365delAACT:p.(Thr455Serfs*24) - DOCK6_000001 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+?/. 12 c.1362_1365del r.(?) p.(Thr455Serfs*24) - likely pathogenic g.11353957_11353960del g.11243281_11243284del 1362_1365delAACT - DOCK6_000001 - PubMed: Shaheen 2011, OMIM:var0001 - - Germline - - - - - Maja Sukalo
+?/. 12 c.1362_1365del r.(?) p.(Thr455Serfs*24) - likely pathogenic g.11353957_11353960del g.11243281_11243284del - - DOCK6_000001 - - - - Unknown - - - - - Maja Sukalo
-?/. - c.1387-5T>C r.spl? p.? - likely benign g.11353833A>G - DOCK6(NM_020812.3):c.1387-5T>C (p.?), DOCK6(NM_020812.4):c.1387-5T>C - C19orf80_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1387-5T>C r.spl? p.? - likely benign g.11353833A>G - DOCK6(NM_020812.3):c.1387-5T>C (p.?), DOCK6(NM_020812.4):c.1387-5T>C - C19orf80_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 13 c.1445C>T r.(?) p.(Pro482Leu) - likely pathogenic g.11353770G>A g.11243094G>A - - DOCK6_000022 - - - - Unknown ? - - - - Maja Sukalo
?/. - c.1445C>T r.(?) p.(Pro482Leu) - VUS g.11353770G>A g.11243094G>A DOCK6(NM_020812.3):c.1445C>T (p.(Pro482Leu)), DOCK6(NM_020812.4):c.1445C>T (p.P482L) - DOCK6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1445C>T r.(?) p.(Pro482Leu) - VUS g.11353770G>A g.11243094G>A DOCK6(NM_020812.3):c.1445C>T (p.(Pro482Leu)), DOCK6(NM_020812.4):c.1445C>T (p.P482L) - DOCK6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1445C>T r.(?) p.(Pro482Leu) - VUS g.11353770G>A g.11243094G>A - - DOCK6_000022 - PubMed: Mansoorshahi 2024 - rs557547319 Germline - - - - - Johan den Dunnen
?/. - c.1480+4C>T r.spl? p.? - VUS g.11353731G>A g.11243055G>A DOCK6(NM_020812.3):c.1480+4C>T (p.?) - DOCK6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1643+5G>A r.spl? p.? - likely benign g.11352716C>T - DOCK6(NM_020812.3):c.1643+5G>A (p.?) - C19orf80_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1644-5C>G r.spl? p.? - likely benign g.11348985G>C - DOCK6(NM_020812.4):c.1644-5C>G - C19orf80_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1664C>T r.(?) p.(Pro555Leu) - benign g.11348960G>A g.11238284G>A DOCK6(NM_020812.4):c.1664C>T (p.P555L) - DOCK6_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1688G>A r.(?) p.(Arg563His) - VUS g.11348936C>T - DOCK6(NM_020812.3):c.1688G>A (p.R563H) - C19orf80_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1713T>C r.(?) p.(Ala571=) - benign g.11348911A>G g.11238235A>G DOCK6(NM_020812.4):c.1713T>C (p.A571=) - DOCK6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 15 c.1718G>A r.(?) p.(Arg573Gln) - VUS g.11348906C>T g.11238230C>T - - DOCK6_000085 - PubMed: Gu 2018 - - Germline - - - - - Johan den Dunnen
?/. - c.1738G>A r.(?) p.(Glu580Lys) - VUS g.11348886C>T - DOCK6(NM_020812.4):c.1738G>A (p.(Glu580Lys)) - C19orf80_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1798C>T r.(?) p.(Arg600Cys) - VUS g.11348755G>A - DOCK6(NM_020812.3):c.1798C>T (p.R600C) - C19orf80_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1832+1G>A r.spl? p.? - likely pathogenic g.11348720C>T - DOCK6(NM_020812.4):c.1832+1G>A - C19orf80_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 16i c.1833-19C>G r.(spl?) p.(=) - VUS g.11311514G>C - - - DOCK6_000023 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - rs188183013 Unknown ? 1/156 chromosomes - - - Maja Sukalo
-?/. - c.1833-19C>G r.(=) p.(=) - likely benign g.11348474G>C g.11237798G>C DOCK6(NM_020812.4):c.1833-19C>G - DOCK6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1833-8T>A r.(=) p.(=) - likely benign g.11348463A>T g.11237787A>T DOCK6(NM_020812.3):c.1833-8T>A (p.(=)), DOCK6(NM_020812.4):c.1833-8T>A - C19orf80_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1833-8T>A r.(=) p.(=) - likely benign g.11348463A>T g.11237787A>T DOCK6(NM_020812.3):c.1833-8T>A (p.(=)), DOCK6(NM_020812.4):c.1833-8T>A - C19orf80_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 17 c.1902_1905del r.(?) p.(Phe635Profs*32) - likely pathogenic g.11348383_11348386del g.11237707_11237710del - - DOCK6_000014 - - - - Unknown - - - - - Maja Sukalo
+?/. 17 c.1902_1905del r.(?) p.(Phe635Profs*32) - likely pathogenic g.11348383_11348386del g.11237707_11237710del - - DOCK6_000014 - - - - Unknown - - - - - Maja Sukalo
?/. - c.1933C>T r.(?) p.(Arg645Trp) - VUS g.11348355G>A g.11237679G>A - - DOCK6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1971+7C>T r.(=) p.(=) - likely benign g.11348310G>A g.11237634G>A DOCK6(NM_020812.4):c.1971+7C>T - C19orf80_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1993G>A r.(?) p.(Gly665Arg) - VUS g.11348212C>T - DOCK6(NM_020812.3):c.1993G>A (p.G665R) - C19orf80_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1997G>A r.(?) p.(Arg666His) - likely benign g.11348208C>T - DOCK6(NM_020812.4):c.1997G>A (p.(Arg666His)) - C19orf80_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2093G>A r.(?) p.(Arg698His) - likely benign g.11347536C>T - DOCK6(NM_020812.3):c.2093G>A (p.(Arg698His)) - C19orf80_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 19 c.2104G>A r.(?) p.(Gly702Ser) - VUS g.11347525C>T g.11236849C>T - - DOCK6_000032 - - - rs199838752 Unknown ? 1/156 chromosomes - - - Maja Sukalo
-?/. - c.2104G>A r.(?) p.(Gly702Ser) - likely benign g.11347525C>T - DOCK6(NM_020812.3):c.2104G>A (p.(Gly702Ser)) - DOCK6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2136A>G r.(?) p.(Thr712=) - benign g.11347493T>C g.11236817T>C DOCK6(NM_020812.4):c.2136A>G (p.T712=) - DOCK6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2140G>A r.(?) p.(Val714Met) - VUS g.11347489C>T g.11236813C>T DOCK6(NM_020812.3):c.2140G>A (p.V714M, p.(Val714Met)) - C19orf80_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2140G>A r.(?) p.(Val714Met) - likely benign g.11347489C>T - DOCK6(NM_020812.3):c.2140G>A (p.V714M, p.(Val714Met)) - C19orf80_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2160+5G>A r.spl? p.? - benign g.11347464C>T g.11236788C>T DOCK6(NM_020812.3):c.2160+5G>A - C19orf80_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2160+14C>T r.(=) p.(=) - likely benign g.11347455G>A g.11236779G>A DOCK6(NM_020812.4):c.2160+14C>T - C19orf80_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2224C>T r.(?) p.(Arg742Trp) - VUS g.11347190G>A - DOCK6(NM_020812.4):c.2224C>T (p.(Arg742Trp), p.R742W) - C19orf80_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2224C>T r.(?) p.(Arg742Trp) - VUS g.11347190G>A - DOCK6(NM_020812.4):c.2224C>T (p.(Arg742Trp), p.R742W) - C19orf80_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2346G>A r.(?) p.(Lys782=) - likely benign g.11347068C>T g.11236392C>T DOCK6(NM_020812.3):c.2346G>A (p.K782=) - C19orf80_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2428C>G r.(?) p.(His810Asp) - likely benign g.11346400G>C - DOCK6(NM_020812.3):c.2428C>G (p.(His810Asp)) - C19orf80_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2476C>T r.(?) p.(Arg826Cys) - likely benign g.11346352G>A - DOCK6(NM_020812.3):c.2476C>T (p.(Arg826Cys)) - C19orf80_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2505C>T r.(?) p.(Tyr835=) - likely benign g.11346323G>A - DOCK6(NM_020812.3):c.2505C>T (p.Y835=) - C19orf80_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2514C>A r.(?) p.(Tyr838Ter) - VUS g.11346314G>T g.11235638G>T NM_020812.4:c.2514G>T - DOCK6_000088 - PubMed: Mansoorshahi 2024 - - Germline - - - - - Johan den Dunnen
+/. - c.2518dup r.(?) p.(Arg841Serfs*6) - pathogenic (recessive) g.11346310dup g.11235634dup NM_020812.3:c.2520dupT:p.(Arg841Serfs*6) - DOCK6_000003 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+?/. 21 c.2520dup r.(?) p.(Arg841Serfs*6) - likely pathogenic g.11346310dup g.11235634dup - - DOCK6_000003 - PubMed: Shaheen 2013, OMIM:var0003 - rs397509398 Germline - - - - - Maja Sukalo
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