Full data view for gene ANKRD11

Information The variants shown are described using the NM_013275.5 transcript reference sequence.

540 entries on 6 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.-253_-251del r.(?) p.(=) Unknown - likely benign g.89556775_89556777del - - - ANKRD11_000474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-145+22743T>G r.(=) p.(=) Unknown - likely benign g.89533910A>C - ANKRD11(NM_013275.6):c.-145+22743T>G - ANKRD11_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-145+27245del r.(=) p.(=) Unknown - likely benign g.89529414del - ANKRD11(NM_013275.6):c.-145+27245del - ANKRD11_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-60+32978A>C r.(=) p.(=) Unknown - likely benign g.89451714T>G - ANKRD11(NM_013275.6):c.-60+32978A>C - ANKRD11_000507 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-59-26145A>G r.(=) p.(=) Unknown - likely benign g.89409631T>C - ANKRD11(NM_013275.6):c.-60+8653A>G - ANKRD11_000506 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-59-20651A>G r.(=) p.(=) Unknown - likely benign g.89404137T>C - ANKRD11(NM_013275.6):c.-59-20651A>G - ANKRD11_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-59-20609C>T r.(=) p.(=) Unknown - likely benign g.89404095G>A - ANKRD11(NM_013275.6):c.-59-20609C>T - ANKRD11_000505 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-59-1378_-59-1376del r.(=) p.(=) Unknown - likely benign g.89384863_89384865del - ANKRD11(NM_013275.6):c.-60+33419_-60+33421del - ANKRD11_000504 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.(?_-1)_(87+1_?)del r.0? p.0? Unknown - VUS g.(88700001_89371838)_(89607414_qter)del - - arr[hg19] 16q24.3(89,371,838-89,607,414)x1 dn ANKRD11_000024 deletion affecting ANKRD11 and part of SPG7 PubMed: Spengler 2012, PubMed: Spengler 2013, for EUCID-SRS consortium - - De novo - - - - normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR DNA arrayCNV, PCRq - - ?, SRS;RSS 22683032-PatSR596/07 PubMed: Spengler 2012, PubMed: Spengler 2013, for EUCID-SRS consortium - M - - - - - - - 1 Zeynep Tümer
+/. - c.? r.(?) p.(Ser?*) Unknown - pathogenic (dominant) g.? - 4886G>C (Ser1629Stop) - ANKRD11_000000 - PubMed: Mahler 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat4 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected non-carrier parents - no Germany - - - - - 1 Johan den Dunnen
?/. - c.17G>A r.(?) p.(Cys6Tyr) Unknown - VUS g.89383411C>T - ANKRD11(NM_013275.6):c.17G>A (p.C6Y) - ANKRD11_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88-1187C>T r.(=) p.(=) Unknown - likely benign g.89372939G>A - ANKRD11(NM_013275.6):c.88-1187C>T - ANKRD11_000503 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.112A>C r.(?) p.(Lys38Gln) Unknown - VUS g.89371728T>G - ANKRD11(NM_013275.6):c.112A>C (p.K38Q) - ANKRD11_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Thr39Ile) Unknown - likely benign g.89371724G>A g.89305316G>A ANKRD11(NM_001256182.2):c.116C>T (p.T39I), ANKRD11(NM_013275.6):c.116C>T (p.(Thr39Ile), p.T39I) - ANKRD11_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Thr39Ile) Unknown - likely benign g.89371724G>A g.89305316G>A ANKRD11(NM_001256182.2):c.116C>T (p.T39I), ANKRD11(NM_013275.6):c.116C>T (p.(Thr39Ile), p.T39I) - ANKRD11_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Thr39Ile) Unknown - likely benign g.89371724G>A - ANKRD11(NM_001256182.2):c.116C>T (p.T39I), ANKRD11(NM_013275.6):c.116C>T (p.(Thr39Ile), p.T39I) - ANKRD11_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136G>A r.(?) p.(Asp46Asn) Parent #1 - VUS g.89371704C>T g.89305296C>T - - ANKRD11_000292 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144947610 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.196G>A r.(?) p.(Ala66Thr) Unknown - VUS g.89371644C>T - ANKRD11(NM_001256182.1):c.196G>A (p.A66T) - ANKRD11_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.218C>T r.(?) p.(Ser73Leu) Unknown - VUS g.89371622G>A - ANKRD11(NM_013275.5):c.218C>T (p.(Ser73Leu)) - ANKRD11_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.221A>G r.(?) p.(Asp74Gly) Unknown - VUS g.89371619T>C - - - ANKRD11_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.226G>A r.(?) p.(Glu76Lys) Unknown - pathogenic g.89371614C>T - ANKRD11(NM_013275.6):c.226G>A (p.(Glu76Lys)) - ANKRD11_000502 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226+3241_226+3242del r.(=) p.(=) Unknown - likely benign g.89368372_89368373del - ANKRD11(NM_013275.6):c.-60+49911_-60+49912del - ANKRD11_000501 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226+3242_226+3243insAAAA r.(=) p.(=) Unknown - likely benign g.89368371_89368372insTTTT - ANKRD11(NM_013275.6):c.-60+49909_-60+49912dup - ANKRD11_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244C>T r.(?) p.(Arg82Trp) Unknown - VUS g.89357574G>A g.89291166G>A ANKRD11(NM_001256182.2):c.244C>T (p.R82W) - ANKRD11_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264G>A r.(?) p.(Glu88=) Unknown - likely benign g.89357554C>T - ANKRD11(NM_001256182.1):c.264G>A (p.E88=) - ANKRD11_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280G>C r.(?) p.(Ala94Pro) Unknown - likely benign g.89357538C>G g.89291130C>G ANKRD11(NM_001256182.1):c.280G>C (p.A94P) - ANKRD11_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282C>G r.(?) p.(Ala94=) Unknown - likely benign g.89357536G>C g.89291128G>C ANKRD11(NM_001256182.2):c.282C>G (p.A94=) - ANKRD11_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.295G>A r.(?) p.(Gly99Ser) Unknown - VUS g.89357523C>T - ANKRD11(NM_001256182.1):c.295G>A (p.G99S) - ANKRD11_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306G>C r.(?) p.(Leu102=) Unknown - likely benign g.89357512C>G g.89291104C>G - - ANKRD11_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316C>T r.(?) p.(Arg106*) Unknown - pathogenic g.89357502G>A - ANKRD11(NM_001256182.1):c.316C>T (p.R106*) - ANKRD11_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316C>T r.(?) p.(Arg106*) Unknown - pathogenic g.89357502G>A - ANKRD11(NM_001256182.1):c.316C>T (p.R106*) - ANKRD11_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.331dup r.(?) p.(Leu111Profs*50) Unknown - likely pathogenic g.89357491dup - - - ANKRD11_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.372G>A r.(?) p.(Thr124=) Unknown - benign g.89357446C>T g.89291038C>T - - ANKRD11_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397+9G>A r.(=) p.(=) Unknown - likely benign g.89357412C>T g.89291004C>T ANKRD11(NM_001256182.2):c.397+9G>A - ANKRD11_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.490A>C r.(?) p.(Arg164=) Unknown - likely benign g.89357144T>G g.89290736T>G ANKRD11(NM_001256182.1):c.490A>C (p.R164=) - ANKRD11_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495C>T r.(?) p.(Asn165=) Unknown - likely benign g.89357139G>A g.89290731G>A ANKRD11(NM_001256182.1):c.495C>T (p.N165=) - ANKRD11_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.500G>A r.(?) p.(Arg167His) Unknown - likely benign g.89357134C>T - ANKRD11(NM_013275.6):c.500G>A (p.(Arg167His)) - ANKRD11_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - likely pathogenic g.89357123G>A - - - ANKRD11_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543C>T r.(?) p.(Ala181=) Unknown - likely benign g.89357091G>A g.89290683G>A ANKRD11(NM_001256182.2):c.543C>T (p.A181=) - ANKRD11_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580G>A r.(?) p.(Val194Ile) Unknown - VUS g.89357054C>T - ANKRD11(NM_013275.6):c.580G>A (p.V194I) - ANKRD11_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.587_591del r.(?) p.(Val196Glyfs*13) Unknown - likely pathogenic g.89357044_89357048del g.89290636_89290640del - - ANKRD11_000254 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.601+1G>A r.spl? p.? Unknown - pathogenic g.89357032C>T - - - ANKRD11_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.636_637insG r.(?) p.(Tyr213ValfsTer22) Unknown - pathogenic g.89355043_89355044insC g.89288635_89288636insC - - ANKRD11_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646G>A r.(?) p.(Val216Ile) Unknown - likely benign g.89355034C>T g.89288626C>T ANKRD11(NM_001256182.2):c.646G>A (p.V216I) - ANKRD11_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.736C>T r.(?) p.(His246Tyr) Unknown - VUS g.89354944G>A - ANKRD11(NM_013275.6):c.736C>T (p.H246Y) - ANKRD11_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.739T>A r.(?) p.(Tyr247Asn) Unknown - VUS g.89354941A>T - ANKRD11(NM_013275.6):c.739T>A (p.Y247N) - ANKRD11_000395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.744+18C>G r.(=) p.(=) Unknown - benign g.89354918G>C g.89288510G>C - - ANKRD11_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.768C>G r.(?) p.(Tyr256Ter) Unknown - pathogenic g.89352571G>C - ANKRD11(NM_001256182.2):c.768C>G (p.Y256*) - ANKRD11_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.822dup r.(?) p.(Asn275Glnfs*74) Unknown - pathogenic g.89352518dup - - - ANKRD11_000369 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829C>G r.(?) p.(Pro277Ala) Unknown - VUS g.89352510G>C - ANKRD11(NM_001256182.1):c.829C>G (p.P277A) - ANKRD11_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.867C>A r.(?) p.(Tyr289Ter) Unknown - pathogenic g.89352472G>T g.89286064G>T - - ANKRD11_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.867C>G r.(?) p.(Tyr289Ter) Unknown - pathogenic g.89352472G>C g.89286064G>C - - ANKRD11_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.890C>T r.(?) p.(Thr297Met) Unknown - VUS g.89352449G>A g.89286041G>A ANKRD11(NM_001256182.1):c.890C>T (p.(Thr297Met)) - ANKRD11_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.892+9C>T r.(=) p.(=) Unknown - likely benign g.89352438G>A - ANKRD11(NM_013275.6):c.892+9C>T - ANKRD11_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.893-1G>C r.spl? p.? Unknown - likely pathogenic g.89352058C>G - - - ANKRD11_000368 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924C>T r.(?) p.(Phe308=) Unknown - likely benign g.89352026G>A g.89285618G>A ANKRD11(NM_001256182.1):c.924C>T (p.F308=), ANKRD11(NM_001256182.2):c.924C>T (p.F308=) - ANKRD11_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924C>T r.(?) p.(Phe308=) Unknown - likely benign g.89352026G>A g.89285618G>A ANKRD11(NM_001256182.1):c.924C>T (p.F308=), ANKRD11(NM_001256182.2):c.924C>T (p.F308=) - ANKRD11_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.979C>G r.(?) p.(Leu327Val) Unknown - VUS g.89351971G>C - ANKRD11(NM_013275.5):c.979C>G (p.(Leu327Val)) - ANKRD11_000472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.990G>C r.(?) p.(Lys330Asn) Unknown - likely benign g.89351960C>G - ANKRD11(NM_013275.6):c.990G>C (p.(Lys330Asn)) - ANKRD11_000484 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.990G>C r.(?) p.(Lys330Asn) Unknown - likely benign g.89351960C>G - ANKRD11(NM_013275.6):c.990G>C (p.(Lys330Asn)) - ANKRD11_000484 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003G>A r.(?) p.(Glu335Lys) Unknown - likely benign g.89351947C>T g.89285539C>T ANKRD11(NM_001256182.1):c.1003G>A (p.E335K), ANKRD11(NM_013275.5):c.1003G>A (p.(Glu335Lys)) - ANKRD11_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003G>A r.(?) p.(Glu335Lys) Unknown - likely benign g.89351947C>T - ANKRD11(NM_001256182.1):c.1003G>A (p.E335K), ANKRD11(NM_013275.5):c.1003G>A (p.(Glu335Lys)) - ANKRD11_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1020G>A r.(?) p.(Thr340=) Unknown - benign g.89351930C>T g.89285522C>T ANKRD11(NM_001256182.1):c.1020G>A (p.(=)) - ANKRD11_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020G>A r.(?) p.(Thr340=) Unknown - likely benign g.89351930C>T - ANKRD11(NM_001256182.1):c.1020G>A (p.(=)) - ANKRD11_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1080G>A r.(?) p.(Pro360=) Unknown - likely benign g.89351870C>T - ANKRD11(NM_001256182.1):c.1080G>A (p.P360=) - ANKRD11_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1099T>C r.(?) p.(Leu367=) Unknown - likely benign g.89351851A>G g.89285443A>G ANKRD11(NM_001256182.1):c.1099T>C (p.L367=) - ANKRD11_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1120G>T r.(?) p.(Glu374Ter) Unknown - pathogenic g.89351830C>A g.89285422C>A - - ANKRD11_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1146dup r.(?) p.(Ile383Tyrfs*7) Unknown - pathogenic g.89351804dup g.89285396dup 1146dupT - ANKRD11_000025 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.1173C>G r.(?) p.(Tyr391Ter) Unknown - pathogenic g.89351777G>C g.89285369G>C - - ANKRD11_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1222T>A r.(?) p.(Ser408Thr) Unknown - VUS g.89351728A>T g.89285320A>T ANKRD11(NM_001256182.1):c.1222T>A (p.S408T) - ANKRD11_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1232C>A r.(?) p.(Ser411Ter) Unknown - pathogenic g.89351718G>T g.89285310G>T - - ANKRD11_000287 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.1232C>A r.(?) p.(Ser411Ter) Unknown - pathogenic (dominant) g.89351718G>T g.89285310G>T - - ANKRD11_000287 - PubMed: Froukh 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD TF042_4 PubMed: Froukh 2020 sib F - Jordan - - - - - 1 Johan den Dunnen
-/. - c.1245C>T r.(?) p.(Asp415=) Unknown - benign g.89351705G>A g.89285297G>A - - ANKRD11_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1258G>A r.(?) p.(Val420Met) Unknown - likely benign g.89351692C>T g.89285284C>T ANKRD11(NM_001256182.2):c.1258G>A (p.V420M) - ANKRD11_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1280_1281del r.(?) p.(Arg427ThrfsTer10) Unknown - pathogenic g.89351671_89351672del g.89285263_89285264del - - ANKRD11_000293 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. 9 c.1318C>T r.(?) p.(Arg440*) Unknown - likely pathogenic g.89351632G>A g.89285224G>A - - ANKRD11_000013 - PubMed: Ockeloen 2015 - - Germline - - - - - DNA SEQ - - KBGS Fam12PatA-B PubMed: Ockeloen 2015 family, 2 affecteds (2F) F - (Netherlands) - - - - - 2 Helger Yntema
+/. - c.1318C>T r.(?) p.(Arg440Ter) Unknown - pathogenic g.89351632G>A g.89285224G>A - - ANKRD11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1318C>T r.(?) p.(Arg440*) Unknown - pathogenic g.89351632G>A g.89285224G>A - - ANKRD11_000013 mosaicism in mother PubMed: Minardi 2020 - - De novo - - - - - DNA SEQ-NG-I - WES EE - PubMed: Minardi 2020 - F - Italy - - - - - 1 Francesca Bisulli
+/. - c.1339C>T r.(?) p.(Gln447Ter) Unknown - pathogenic g.89351611G>A g.89285203G>A - - ANKRD11_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1355del r.(?) p.(Asn452Ilefs*3) Unknown - likely pathogenic g.89351601del - ANKRD11(NM_013275.5):c.1355delA (p.(Asn452fs)) - ANKRD11_000471 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1356_1358del r.(?) p.(Asn452del) Unknown - VUS g.89351594_89351596del - ANKRD11(NM_001256182.1):c.1356_1358delTAA (p.N452del) - ANKRD11_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1356_1359del r.(?) p.(Asn452LysfsTer2) Unknown - pathogenic g.89351594_89351597del g.89285186_89285189del ANKRD11(NM_001256182.2):c.1356_1359delTAAA (p.N452Kfs*2) - ANKRD11_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1369A>T r.(?) p.(Lys457Ter) Unknown - pathogenic g.89351581T>A - ANKRD11(NM_001256182.1):c.1369A>T (p.K457*) - ANKRD11_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1372C>T r.(?) p.(Arg458Ter) Unknown - pathogenic g.89351578G>A - ANKRD11(NM_001256182.2):c.1372C>T (p.R458*) - ANKRD11_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1372C>T r.(?) p.(Arg458*) Unknown ACMG likely pathogenic g.89351578G>A g.89285170G>A ANKRD11, NM_013275, c.1372C>T, p.Arg458* - ANKRD11_000240 heterozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 1_AD PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
+/. - c.1381_1384del r.(?) p.(Glu461GlnfsTer48) Unknown - pathogenic g.89351574_89351577del - ANKRD11(NM_013275.5):c.1381_1384delGAAA (p.(Glu461fs)) - ANKRD11_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1396G>T r.(?) p.(Glu466Ter) Unknown - likely pathogenic g.89351554C>A g.89285146C>A ANKRD11(NM_001256182.1):c.1396G>T (p.(Glu466Ter)) - ANKRD11_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1415G>A r.(?) p.(Arg472Gln) Unknown - VUS g.89351535C>T g.89285127C>T ANKRD11(NM_001256182.1):c.1415G>A (p.(Arg472Gln)) - ANKRD11_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1419C>T r.(?) p.(Ser473=) Unknown - likely benign g.89351531G>A - ANKRD11(NM_001256182.1):c.1419C>T (p.S473=) - ANKRD11_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1420G>A r.(?) p.(Asp474Asn) Unknown - VUS g.89351530C>T - ANKRD11(NM_013275.6):c.1420G>A (p.D474N) - ANKRD11_000389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1422dup r.(?) p.(Lys475Glnfs*18) Unknown - pathogenic g.89351528dup g.89285120dup 1422dupC - ANKRD11_000077 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. 9 c.1460_1463del r.(?) p.(Glu487Valfs*22) Unknown - likely pathogenic g.89351489_89351492del g.89285081_89285084del Ockeloen 2014 - ANKRD11_000007 - PubMed: Ockeloen 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - KBGS Pat5 PubMed: Ockeloen 2015 - M - (Netherlands) - - - - - 1 Helger Yntema
+/. - c.1460_1463del r.(?) p.(Glu487ValfsTer22) Unknown - pathogenic g.89351489_89351492del - ANKRD11(NM_013275.6):c.1460_1463delAGAG (p.E487Vfs*22) - ANKRD11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1489G>A r.(?) p.(Gly497Arg) Unknown - likely benign g.89351461C>T - ANKRD11(NM_013275.5):c.1489G>A (p.(Gly497Arg)) - ANKRD11_000469 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1491dup r.(?) p.(Ser498Glufs*81) Unknown - likely pathogenic g.89351462dup - ANKRD11(NM_013275.5):c.1491dupG (p.(Ser498fs)) - ANKRD11_000470 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1494C>T r.(?) p.(Ser498=) Unknown - likely benign g.89351456G>A - ANKRD11(NM_001256182.1):c.1494C>T (p.S498=) - ANKRD11_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1550C>A r.(?) p.(Ser517Tyr) Unknown - likely benign g.89351400G>T - ANKRD11(NM_013275.5):c.1550C>A (p.(Ser517Tyr)) - ANKRD11_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1621C>T r.(?) p.(Gln541Ter) Unknown - likely pathogenic g.89351329G>A g.89284921G>A - - ANKRD11_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1652_1666del r.(?) p.(Trp551_Ser555del) Unknown - VUS g.89351286_89351300del g.89284878_89284892del ANKRD11(NM_001256182.2):c.1652_1666delGGAAAACCATTTCTT (p.W551_S555del) - ANKRD11_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1726G>A r.(?) p.(Glu576Lys) Unknown - likely benign g.89351224C>T - ANKRD11(NM_013275.5):c.1726G>A (p.(Glu576Lys)) - ANKRD11_000467 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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