Full data view for gene DNAH11

Information The variants shown are described using the NM_001277115.1 transcript reference sequence.

432 entries on 5 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.54C>T r.(?) p.(Thr18=) Unknown - benign g.21582917C>T g.21543299C>T DNAH11(NM_001277115.1):c.54C>T (p.T18=) - DNAH11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100G>T r.(?) p.(Glu34Ter) Unknown - benign g.21582963G>T g.21543345G>T DNAH11(NM_001277115.1):c.100G>T (p.E34*), DNAH11(NM_001277115.2):c.100G>T (p.E34*) - DNAH11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100G>T r.(?) p.(Glu34Ter) Unknown - benign g.21582963G>T g.21543345G>T DNAH11(NM_001277115.1):c.100G>T (p.E34*), DNAH11(NM_001277115.2):c.100G>T (p.E34*) - DNAH11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.100_101delinsTT r.(?) p.(Glu34Leu) Unknown - benign g.21582963_21582964delinsTT g.21543345_21543346delinsTT DNAH11(NM_001277115.1):c.100_101delGAinsTT (p.E34L) - DNAH11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.101A>T r.(?) p.(Glu34Val) Unknown - benign g.21582964A>T g.21543346A>T DNAH11(NM_001277115.2):c.101A>T (p.E34V) - CDCA7L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163C>T r.(?) p.(Gln55*) Unknown - pathogenic g.21583026C>T - - - CDCA7L_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.165del r.(?) p.(Asp56Thrfs*13) Unknown - pathogenic g.21583028del - DNAH11(NM_001277115.2):c.165delA (p.D56Tfs*13) - CDCA7L_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188G>C r.(?) p.(Gly63Ala) Unknown - VUS g.21583051G>C g.21543433G>C DNAH11(NM_003777.3):c.188G>C (p.(Gly63Ala)) - DNAH11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.384del r.(?) p.(Phe128Leufs*12) Unknown - likely pathogenic g.21584656del - DNAH11(NM_001277115.1):c.384del (p.(Phe128Leufs*12)) - CDCA7L_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.421G>T r.(?) p.(Asp141Tyr) Unknown - benign g.21584693G>T g.21545075G>T DNAH11(NM_001277115.1):c.421G>T (p.D141Y) - DNAH11_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.423C>A r.(?) p.(Asp141Glu) Unknown - VUS g.21584695C>A g.21545077C>A DNAH11(NM_001277115.1):c.423C>A (p.(Asp141Glu)) - DNAH11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434T>A r.(?) p.(Val145Glu) Unknown - VUS g.21584706T>A g.21545088T>A DNAH11(NM_003777.3):c.434T>A (p.(Val145Glu)) - DNAH11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.470G>A r.(?) p.(Gly157Glu) Parent #1 - VUS g.21584742G>A g.21545124G>A - - DNAH11_000142 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185011953 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.495+3A>T r.spl? p.? Unknown - VUS g.21584770A>T - DNAH11(NM_001277115.2):c.495+3A>T - CDCA7L_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.503del r.(?) p.(Val168Glyfs*25) Unknown - pathogenic g.21598427del - DNAH11(NM_001277115.2):c.503delT (p.V168Gfs*25) - CDCA7L_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.576A>G r.(?) p.(Ile192Met) Unknown - VUS g.21598500A>G g.21558882A>G DNAH11(NM_001277115.1):c.576A>G (p.I192M), DNAH11(NM_001277115.2):c.576A>G (p.(Ile192Met)) - DNAH11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576A>G r.(?) p.(Ile192Met) Unknown - benign g.21598500A>G g.21558882A>G DNAH11(NM_001277115.1):c.576A>G (p.I192M), DNAH11(NM_001277115.2):c.576A>G (p.(Ile192Met)) - DNAH11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640A>G r.(?) p.(Ile214Val) Parent #1 - VUS g.21598564A>G g.21558946A>G - - DNAH11_000143 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117064287 Germline - 5/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.640A>G r.(?) p.(Ile214Val) Unknown - likely benign g.21598564A>G - DNAH11(NM_001277115.1):c.640A>G (p.(Ile214Val)) - DNAH11_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.661A>T r.(?) p.(Met221Leu) Unknown - likely benign g.21598585A>T g.21558967A>T DNAH11(NM_001277115.1):c.661A>T (p.M221L), DNAH11(NM_001277115.2):c.661A>T (p.(Met221Leu)) - CDCA7L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.661A>T r.(?) p.(Met221Leu) Parent #1 - VUS g.21598585A>T g.21558967A>T - - CDCA7L_000010 conflicting interpretations of pathogenicity; 19 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147525173 Germline - 19/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
?/. - c.661A>T r.(?) p.(Met221Leu) Both (homozygous) - VUS g.21598585A>T g.21558967A>T - - CDCA7L_000010 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147525173 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.661A>T r.(?) p.(Met221Leu) Unknown - likely benign g.21598585A>T - DNAH11(NM_001277115.1):c.661A>T (p.M221L), DNAH11(NM_001277115.2):c.661A>T (p.(Met221Leu)) - CDCA7L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.695C>T r.(?) p.(Pro232Leu) Unknown - likely benign g.21599223C>T g.21559605C>T DNAH11(NM_001277115.1):c.695C>T (p.P232L, p.(Pro232Leu)) - CDCA7L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.695C>T r.(?) p.(Pro232Leu) Unknown - likely benign g.21599223C>T g.21559605C>T DNAH11(NM_001277115.1):c.695C>T (p.P232L, p.(Pro232Leu)) - CDCA7L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705C>T r.(?) p.(Asn235=) Unknown - benign g.21599233C>T g.21559615C>T DNAH11(NM_001277115.1):c.705C>T (p.N235=), DNAH11(NM_001277115.2):c.705C>T (p.N235=) - DNAH11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705C>T r.(?) p.(Asn235=) Unknown - benign g.21599233C>T g.21559615C>T DNAH11(NM_001277115.1):c.705C>T (p.N235=), DNAH11(NM_001277115.2):c.705C>T (p.N235=) - DNAH11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.773T>C r.(?) p.(Ile258Thr) Unknown - VUS g.21599301T>C - DNAH11(NM_001277115.2):c.773T>C (p.I258T) - CDCA7L_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.793_794insCAGCT r.(?) p.(Arg265Profs*5) Unknown - pathogenic g.21599321_21599322insCAGCT - DNAH11(NM_001277115.1):c.793_794insCAGCT (p.R265Pfs*5) - CDCA7L_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939C>T r.(?) p.(Ser313=) Unknown - likely benign g.21600745C>T g.21561127C>T DNAH11(NM_001277115.1):c.939C>T (p.S313=), DNAH11(NM_001277115.2):c.939C>T (p.(Ser313=)) - CDCA7L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.939C>T r.(?) p.(Ser313=) Unknown - likely benign g.21600745C>T - DNAH11(NM_001277115.1):c.939C>T (p.S313=), DNAH11(NM_001277115.2):c.939C>T (p.(Ser313=)) - CDCA7L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.971C>T r.(?) p.(Ala324Val) Parent #1 - benign g.21600777C>T g.21561159C>T - - DNAH11_000144 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79874320 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.991G>A r.(?) p.(Glu331Lys) Unknown - VUS g.21603812G>A g.21564194G>A DNAH11(NM_001277115.1):c.991G>A (p.E331K) - DNAH11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1065A>G r.(?) p.(Pro355=) Unknown - benign g.21603886A>G g.21564268A>G DNAH11(NM_001277115.1):c.1065A>G (p.P355=) - DNAH11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1072C>T r.(?) p.(Arg358Cys) Unknown - likely benign g.21603893C>T g.21564275C>T DNAH11(NM_001277115.1):c.1072C>T (p.R358C) - DNAH11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1148G>A r.(?) p.(Arg383Gln) Unknown - VUS g.21603969G>A g.21564351G>A DNAH11(NM_001277115.1):c.1148G>A (p.(Arg383Gln)) - DNAH11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1194+57C>T r.(=) p.(=) Unknown - likely benign g.21604072C>T g.21564454C>T DNAH11(NM_001277115.1):c.1194+57C>T - DNAH11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1199C>T r.(?) p.(Thr400Ile) Unknown - benign g.21609691C>T g.21570073C>T DNAH11(NM_001277115.1):c.1199C>T (p.T400I), DNAH11(NM_001277115.2):c.1199C>T (p.(Thr400Ile)) - DNAH11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1199C>T r.(?) p.(Thr400Ile) Parent #1 - likely benign g.21609691C>T g.21570073C>T - - DNAH11_000015 235 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72655982 Germline - 235/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 235 Mohammed Faruq
-?/. - c.1199C>T r.(?) p.(Thr400Ile) Both (homozygous) - likely benign g.21609691C>T g.21570073C>T - - DNAH11_000015 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72655982 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-/. - c.1199C>T r.(?) p.(Thr400Ile) Unknown - benign g.21609691C>T - DNAH11(NM_001277115.1):c.1199C>T (p.T400I), DNAH11(NM_001277115.2):c.1199C>T (p.(Thr400Ile)) - DNAH11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1232G>A r.(?) p.(Gly411Glu) Unknown - VUS g.21609724G>A - DNAH11(NM_001277115.2):c.1232G>A (p.(Gly411Glu)) - CDCA7L_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1241A>G r.(?) p.(Glu414Gly) Unknown - VUS g.21609733A>G g.21570115A>G - - DNAH11_000175 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.1320dup r.(?) p.(Leu441Ilefs*25) Unknown - pathogenic g.21609812dup - DNAH11(NM_001277115.2):c.1320dupA (p.L441Ifs*25) - CDCA7L_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1397A>C r.(?) p.(Lys466Thr) Parent #1 - benign g.21609889A>C g.21570271A>C - - DNAH11_000145 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147912535 Germline - 10/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 10 Mohammed Faruq
-/. - c.1426-9T>C r.(=) p.(=) Unknown - benign g.21611415T>C g.21571797T>C DNAH11(NM_001277115.1):c.1426-9T>C, DNAH11(NM_001277115.2):c.1426-9T>C - DNAH11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1426-9T>C r.(=) p.(=) Unknown - benign g.21611415T>C - DNAH11(NM_001277115.1):c.1426-9T>C, DNAH11(NM_001277115.2):c.1426-9T>C - DNAH11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1426-4A>G r.spl? p.? Unknown - likely benign g.21611420A>G g.21571802A>G DNAH11(NM_001277115.1):c.1426-4A>G - CDCA7L_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1478G>A r.(?) p.(Gly493Asp) Unknown - VUS g.21611476G>A g.21571858G>A DNAH11(NM_001277115.1):c.1478G>A (p.G493D) - CDCA7L_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1586C>G r.(?) p.(Thr529Ser) Unknown - VUS g.21611584C>G g.21571966C>G DNAH11(NM_001277115.1):c.1586C>G (p.T529S, p.(Thr529Ser)) - CDCA7L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1586C>G r.(?) p.(Thr529Ser) Unknown - likely benign g.21611584C>G g.21571966C>G DNAH11(NM_001277115.1):c.1586C>G (p.T529S, p.(Thr529Ser)) - CDCA7L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1593G>T r.(?) p.(Met531Ile) Unknown - VUS g.21611591G>T g.21571973G>T DNAH11(NM_001277115.1):c.1593G>T (p.M531I) - CDCA7L_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1702G>A r.(?) p.(Ala568Thr) Unknown - benign g.21621631G>A g.21582013G>A DNAH11(NM_001277115.1):c.1702G>A (p.A568T), DNAH11(NM_001277115.2):c.1702G>A (p.(Ala568Thr)) - CDCA7L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1702G>A r.(?) p.(Ala568Thr) Parent #1 - likely benign g.21621631G>A g.21582013G>A - - CDCA7L_000018 230 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72655988 Germline - 230/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 230 Mohammed Faruq
-?/. - c.1702G>A r.(?) p.(Ala568Thr) Both (homozygous) - likely benign g.21621631G>A g.21582013G>A - - CDCA7L_000018 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72655988 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-/. - c.1702G>A r.(?) p.(Ala568Thr) Unknown - benign g.21621631G>A - DNAH11(NM_001277115.1):c.1702G>A (p.A568T), DNAH11(NM_001277115.2):c.1702G>A (p.(Ala568Thr)) - CDCA7L_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1846C>T r.(?) p.(Gln616Ter) Unknown - likely pathogenic g.21627817C>T g.21588199C>T DNAH11(NM_001277115.2):c.1846C>T (p.Q616*) - CDCA7L_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1916A>G r.(?) p.(Gln639Arg) Unknown - benign g.21628197A>G g.21588579A>G DNAH11(NM_001277115.1):c.1916A>G (p.Q639R) - DNAH11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1956C>T r.(?) p.(Phe652=) Unknown - benign g.21628237C>T g.21588619C>T DNAH11(NM_001277115.1):c.1956C>T (p.F652=), DNAH11(NM_001277115.2):c.1956C>T (p.F652=) - DNAH11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1956C>T r.(?) p.(Phe652=) Unknown - benign g.21628237C>T g.21588619C>T DNAH11(NM_001277115.1):c.1956C>T (p.F652=), DNAH11(NM_001277115.2):c.1956C>T (p.F652=) - DNAH11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1961C>G r.(?) p.(Ser654Cys) Unknown - benign g.21628242C>G g.21588624C>G DNAH11(NM_001277115.1):c.1961C>G (p.S654C) - DNAH11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1997C>G r.(?) p.(Ala666Gly) Unknown - VUS g.21628849C>G - DNAH11(NM_001277115.1):c.1997C>G (p.A666G) - CDCA7L_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2068dup r.(?) p.(Trp690Leufs*4) Unknown - pathogenic g.21628920dup - DNAH11(NM_001277115.2):c.2068dupT (p.W690Lfs*4) - CDCA7L_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2152_2153del r.(?) p.(Val718Glnfs*3) Parent #1 - likely pathogenic (recessive) g.21629004_21629005del g.21589386_21589387del 2152_2153delGT - DNAH11_000167 - PubMed: Pan 2024, Journal: Pan 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Pan 2024, Journal: Pan 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2176G>T r.(?) p.(Ala726Ser) Unknown - VUS g.21630542G>T - DNAH11(NM_001277115.2):c.2176G>T (p.A726S) - CDCA7L_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2275-15G>T r.(=) p.(=) Unknown - benign g.21630788G>T g.21591170G>T DNAH11(NM_001277115.1):c.2275-15G>T - DNAH11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2379C>T r.(?) p.(Asp793=) Unknown - likely benign g.21630907C>T g.21591289C>T DNAH11(NM_001277115.1):c.2379C>T (p.D793=) - DNAH11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2454A>G r.(?) p.(Ala818=) Unknown - benign g.21630982A>G g.21591364A>G DNAH11(NM_001277115.1):c.2454A>G (p.A818=), DNAH11(NM_001277115.2):c.2454A>G (p.A818=) - DNAH11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2454A>G r.(?) p.(Ala818=) Unknown - benign g.21630982A>G g.21591364A>G DNAH11(NM_001277115.1):c.2454A>G (p.A818=), DNAH11(NM_001277115.2):c.2454A>G (p.A818=) - DNAH11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2542G>A r.(?) p.(Val848Met) Unknown - VUS g.21631070G>A g.21591452G>A DNAH11(NM_001277115.1):c.2542G>A (p.V848M, p.(Val848Met)) - DNAH11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2542G>A r.(?) p.(Val848Met) Unknown - VUS g.21631070G>A g.21591452G>A DNAH11(NM_001277115.1):c.2542G>A (p.V848M, p.(Val848Met)) - DNAH11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2570G>A r.(?) p.(Arg857Gln) Parent #1 - likely benign g.21631098G>A g.21591480G>A - - DNAH11_000169 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat13 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
-?/. - c.2587T>C r.(?) p.(Leu863=) Unknown - likely benign g.21631115T>C - DNAH11(NM_001277115.1):c.2587T>C (p.L863=) - CDCA7L_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2712G>A r.(?) p.(Trp904*) Unknown - likely pathogenic g.21639449G>A - DNAH11(NM_001277115.2):c.2712G>A (p.W904*) - CDCA7L_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2750A>T r.(?) p.(Glu917Val) Unknown - likely benign g.21639487A>T - DNAH11(NM_001277115.2):c.2750A>T (p.(Glu917Val)) - CDCA7L_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2772G>A r.(?) p.(Met924Ile) Unknown - likely benign g.21639509G>A g.21599891G>A DNAH11(NM_001277115.1):c.2772G>A (p.M924I, p.(Met924Ile)) - DNAH11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2772G>A r.(?) p.(Met924Ile) Unknown - VUS g.21639509G>A g.21599891G>A DNAH11(NM_001277115.1):c.2772G>A (p.M924I, p.(Met924Ile)) - DNAH11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2783A>T r.(?) p.(Asp928Val) Unknown - likely benign g.21639520A>T - DNAH11(NM_001277115.2):c.2783A>T (p.D928V) - CDCA7L_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2803G>A r.(?) p.(Glu935Lys) Unknown - likely benign g.21639540G>A g.21599922G>A DNAH11(NM_001277115.1):c.2803G>A (p.(Glu935Lys)) - DNAH11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2824C>A r.(?) p.(Pro942Thr) Parent #1 - VUS g.21639561C>A g.21599943C>A - - DNAH11_000146 conflicting interpretations of pathogenicity; 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs189569144 Germline - 17/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
-/. - c.2835A>G r.(?) p.(Gln945=) Unknown - benign g.21639572A>G g.21599954A>G DNAH11(NM_001277115.1):c.2835A>G (p.Q945=), DNAH11(NM_001277115.2):c.2835A>G (p.(Gln945=)) - DNAH11_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2835A>G r.(?) p.(Gln945=) Unknown - benign g.21639572A>G - DNAH11(NM_001277115.1):c.2835A>G (p.Q945=), DNAH11(NM_001277115.2):c.2835A>G (p.(Gln945=)) - DNAH11_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2849del r.(?) p.(Leu950Cysfs*12) Unknown - pathogenic g.21639586del - DNAH11(NM_001277115.2):c.2849delT (p.L950Cfs*12) - CDCA7L_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2887A>G r.(?) p.(Arg963Gly) Unknown - likely benign g.21639624A>G g.21600006A>G - - DNAH11_000176 - PubMed: Alsamri 2021 - rs185803317 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+?/. - c.2966G>A r.(?) p.(Arg989Gln) Paternal (confirmed) - likely pathogenic (recessive) g.21639703G>A g.21600085G>A - - DNAH11_000140 - PubMed: Lee 2019 ClinVar-000622141.2 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Pat1 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.3040C>G r.(?) p.(Gln1014Glu) Unknown - VUS g.21640333C>G - DNAH11(NM_001277115.1):c.3040C>G (p.(Gln1014Glu)) - CDCA7L_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3045G>T r.(?) p.(Glu1015Asp) Parent #1 - VUS g.21640338G>T g.21600720G>T - - DNAH11_000138 - PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - rs72657303 Germline - - - - - DNA, RNA RT-PCR, SEQ - - DPDD son PubMed: van Kuilenburg 2018, Journal: van Kuilenburg 2018 - M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.3045G>T r.(?) p.(Glu1015Asp) Unknown - likely benign g.21640338G>T - DNAH11(NM_001277115.1):c.3045G>T (p.(Glu1015Asp)) - DNAH11_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3068T>C r.(?) p.(Val1023Ala) Unknown - benign g.21640361T>C g.21600743T>C DNAH11(NM_001277115.1):c.3068T>C (p.V1023A) - DNAH11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3112A>G r.(?) p.(Thr1038Ala) Unknown - benign g.21640405A>G g.21600787A>G DNAH11(NM_001277115.1):c.3112A>G (p.T1038A), DNAH11(NM_001277115.2):c.3112A>G (p.T1038A) - DNAH11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3112A>G r.(?) p.(Thr1038Ala) Unknown - benign g.21640405A>G g.21600787A>G DNAH11(NM_001277115.1):c.3112A>G (p.T1038A), DNAH11(NM_001277115.2):c.3112A>G (p.T1038A) - DNAH11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3174T>A r.(?) p.(=) Unknown - VUS g.21640467T>A - - - CDCA7L_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3236T>C r.(?) p.(Leu1079Pro) Unknown - VUS g.21640529T>C - DNAH11(NM_001277115.1):c.3236T>C (p.L1079P) - CDCA7L_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3237T>C r.(?) p.(Leu1079=) Unknown - likely benign g.21640530T>C g.21600912T>C DNAH11(NM_001277115.1):c.3237T>C (p.L1079=) - CDCA7L_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3256-10C>G r.(=) p.(=) Unknown - benign g.21640618C>G g.21601000C>G DNAH11(NM_001277115.1):c.3256-10C>G - DNAH11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3263T>C r.(?) p.(Ile1088Thr) Unknown - likely benign g.21640635T>C - DNAH11(NM_001277115.1):c.3263T>C (p.(Ile1088Thr)) - CDCA7L_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3356G>A r.(?) p.(Ser1119Asn) Unknown - VUS g.21640728G>A g.21601110G>A DNAH11(NM_001277115.1):c.3356G>A (p.S1119N), DNAH11(NM_001277115.2):c.3356G>A (p.S1119N) - CDCA7L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3356G>A r.(?) p.(Ser1119Asn) Unknown - VUS g.21640728G>A - DNAH11(NM_001277115.1):c.3356G>A (p.S1119N), DNAH11(NM_001277115.2):c.3356G>A (p.S1119N) - CDCA7L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3412T>C r.(?) p.(Phe1138Leu) Unknown - likely benign g.21640784T>C - DNAH11(NM_001277115.1):c.3412T>C (p.(Phe1138Leu)) - CDCA7L_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3466G>A r.(?) p.(Gly1156Arg) Parent #1 - VUS g.21641054G>A g.21601436G>A - - DNAH11_000147 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs183521702 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
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