Full data view for gene CCDC39

Information The variants shown are described using the NM_181426.1 transcript reference sequence.

134 entries on 2 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.2T>C r.(?) p.(Met1?) Unknown - VUS g.180397167A>G g.180679379A>G CCDC39(NM_181426.2):c.2T>C (p.M1?) - CCDC39_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68A>C r.(?) p.(Glu23Ala) Unknown - VUS g.180397101T>G - CCDC39(NM_181426.2):c.68A>C (p.E23A) - CCDC39_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83A>C r.(?) p.(Glu28Ala) Unknown - VUS g.180397086T>G - CCDC39(NM_181426.2):c.83A>C (p.(Glu28Ala)) - CCDC39_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.151C>T r.(?) p.(Arg51*) Parent #1 - pathogenic (recessive) g.180381714G>A g.180663926G>A - - CCDC39_000007 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD14 PCD102 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Hannah Mitchison
-?/. - c.162T>C r.(?) p.(Ser54=) Unknown - likely benign g.180381703A>G g.180663915A>G CCDC39(NM_181426.2):c.162T>C (p.S54=) - CCDC39_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233G>A r.(?) p.(Arg78His) Unknown - likely benign g.180379773C>T g.180661985C>T CCDC39(NM_181426.1):c.233G>A (p.(Arg78His)) - CCDC39_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.272A>G r.(?) p.(Gln91Arg) Unknown - likely benign g.180379734T>C g.180661946T>C CCDC39(NM_181426.1):c.272A>G (p.(Gln91Arg)) - CCDC39_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308G>A r.(?) p.(Arg103Gln) Unknown - VUS g.180379698C>T - CCDC39(NM_181426.2):c.308G>A (p.R103Q) - CCDC39_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.357+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.180379648C>G g.180661860C>G - - CCDC39_000002 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD14 PCD102 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Hannah Mitchison
+/. 3i c.357+1G>C r.spl? p.? Unknown - pathogenic g.180379648C>G - CCDC39(NM_181426.2):c.357+1G>C - CCDC39_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.357+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.180379648C>G g.180661860C>G - - CCDC39_000002 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD Fam2PatDCP552 PubMed: Merveille 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Turkey - - - - - 1 Johan den Dunnen
+/. 3i c.357+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.180379648C>G g.180661860C>G - - CCDC39_000002 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD Fam2PatDCP553 PubMed: Merveille 2011 brother M no Turkey - - - - - 1 Johan den Dunnen
+/. 3i c.357+1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.180379648C>G g.180661860C>G - - CCDC39_000002 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP274 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no France - - - - - 1 Johan den Dunnen
+/. 3i c.357+1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.180379648C>G g.180661860C>G - - CCDC39_000002 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD OP736PatII1 PubMed: Merveille 2011 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Denmark - - - - - 1 Johan den Dunnen
+/. 3i c.357+1G>C r.spl p.? Parent #1 - pathogenic (recessive) g.180379648C>G g.180661860C>G - - CCDC39_000002 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD OP736PatII2 PubMed: Merveille 2011 brother M no Germany - - - - - 1 Johan den Dunnen
+/. 3i c.357+1G>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.180379648C>G g.180661860C>G - - CCDC39_000002 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP158 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - 1 Johan den Dunnen
+/. 3i c.357+1G>C r.spl p.? Parent #2 - pathogenic (recessive) g.180379648C>G g.180661860C>G - - CCDC39_000002 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD14 PCD211 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents F - Portugal - - - - - 1 Hannah Mitchison
+/. - c.357+1G>C r.spl? p.? Unknown - pathogenic g.180379648C>G - CCDC39(NM_181426.2):c.357+1G>C - CCDC39_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379C>G r.(?) p.(Gln127Glu) Unknown - VUS g.180378495G>C - CCDC39(NM_181426.1):c.379C>G (p.(Gln127Glu)) - CCDC39_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.472C>G r.(?) p.(Leu158Val) Unknown - benign g.180378402G>C g.180660614G>C CCDC39(NM_181426.2):c.472C>G (p.L158V, p.(Leu158Val)) - CCDC39_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.472C>G r.(?) p.(Leu158Val) Unknown - likely benign g.180378402G>C - CCDC39(NM_181426.2):c.472C>G (p.L158V, p.(Leu158Val)) - CCDC39_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.485dup r.(?) p.(Tyr163ValfsTer6) Both (homozygous) - pathogenic (recessive) g.180378390dup g.180660602dup 485_486insA - CCDC39_000083 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD OP18PatII1 PubMed: Merveille 2011 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. 5 c.526_527del r.(?) p.(Leu176Alafs*10) Parent #2 - pathogenic (recessive) g.180377549_180377550del g.180659761_180659762del 526_527delCT - CCDC39_000067 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD14 PCD186 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents F - Zimbabwe - - - - - 1 Hannah Mitchison
+/. 5 c.526_527del r.(?) p.(Leu176Alafs*10) Parent #2 - pathogenic (recessive) g.180377549_180377550del g.180659761_180659762del 526_527delCT - CCDC39_000067 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD14 PCD206 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Hannah Mitchison
?/. - c.(544A>T^545C>G) r.(?) p.(Thr182Ser) Unknown - VUS g.(180377529G>C^180377530T>A) g.(180659741G>C^180659742T>A) Thr182Ser - CCDC39_000082 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Merveille 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.545C>G r.(?) p.(Thr182Ser) Unknown - benign g.180377529G>C g.180659741G>C CCDC39(NM_181426.2):c.545C>G (p.T182S, p.(Thr182Ser)) - CCDC39_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.545C>G r.(?) p.(Thr182Ser) Unknown - benign g.180377529G>C g.180659741G>C CCDC39(NM_181426.2):c.545C>G (p.T182S, p.(Thr182Ser)) - CCDC39_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603C>T r.(?) p.(Ser201=) Unknown - likely benign g.180377471G>A g.180659683G>A CCDC39(NM_181426.2):c.603C>T (p.S201=) - CCDC39_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604G>A r.(?) p.(Ala202Thr) Unknown - likely benign g.180377470C>T - CCDC39(NM_181426.2):c.604G>A (p.(Ala202Thr)) - CCDC39_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.610-15C>T r.(=) p.(=) Unknown - likely benign g.180377383G>A g.180659595G>A CCDC39(NM_181426.2):c.610-15C>T - CCDC39_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.610-2A>G r.spl? p.? Unknown - pathogenic g.180377370T>C g.180659582T>C CCDC39(NM_181426.2):c.610-2A>G - CCDC39_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.610-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.180377370T>C g.180659582T>C - - CCDC39_000026 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP274 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no France - - - - - 1 Johan den Dunnen
+?/. - c.641G>A r.(?) p.(Arg214His) Parent #1 - likely pathogenic (!) g.180377337C>T g.180659549C>T - - CCDC39_000091 suggested digenic inheritance PubMed: Rai 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? GMKF_9 PubMed: Rai 2025 - F - United States non-Hispanic;white - - - - 1 Johan den Dunnen
+/. 6 c.664G>T r.(?) p.(Glu222Ter) Parent #1 - pathogenic (recessive) g.180377314C>A g.180659526C>A - - CCDC39_000006 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD14 PCD206 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Hannah Mitchison
?/. - c.740A>G r.(?) p.(Glu247Gly) Unknown - VUS g.180372740T>C g.180654952T>C CCDC39(NM_181426.2):c.740A>G (p.E247G) - CCDC39_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.799A>T r.(?) p.(Lys267Ter) Unknown - pathogenic g.180372681T>A g.180654893T>A CCDC39(NM_181426.2):c.799A>T (p.K267*) - CCDC39_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.830_831del r.(?) p.(Thr277Argfs3*) Both (homozygous) - pathogenic (recessive) g.180372652_180372653del g.180654864_180654865del 830_831delCA - CCDC39_000004 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD14 UNC64 PubMed: Antony 2013 - - - United States - - - - - 1 Hannah Mitchison
?/. - c.880A>G r.(?) p.(Arg294Gly) Unknown - VUS g.180372600T>C g.180654812T>C CCDC39(NM_181426.2):c.880A>G (p.R294G) - CCDC39_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900T>A r.(?) p.(His300Gln) Unknown - likely benign g.180372580A>T g.180654792A>T CCDC39(NM_181426.1):c.900T>A (p.(His300Gln)), CCDC39(NM_181426.2):c.900T>A (p.H300Q) - CCDC39_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900T>A r.(?) p.(His300Gln) Unknown - likely benign g.180372580A>T - CCDC39(NM_181426.1):c.900T>A (p.(His300Gln)), CCDC39(NM_181426.2):c.900T>A (p.H300Q) - CCDC39_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1007_1010del r.(?) p.(Lys336ArgfsTer19) Parent #2 - pathogenic (recessive) g.180369977_180369980del g.180652189_180652192del 1007_1010delAGAA - CCDC39_000081 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD OP122 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no Germany - - - - - 1 Johan den Dunnen
+/. - c.1035-3C>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.180369324G>C g.180651536G>C - - CCDC39_000080 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP323 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents F no France - - - - - 1 Johan den Dunnen
-?/. - c.1035G>A r.(?) p.(=) Unknown - likely benign g.180369321C>T - CCDC39(NM_181426.2):c.1035G>A (p.(Arg345=)) - CCDC39_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1072del r.(?) p.(Thr358GlnfsTer3) Both (homozygous) - pathogenic (recessive) g.180369286del g.180651498del 1072delA - CCDC39_000079 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP554 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no Algeria - - - - - 1 Johan den Dunnen
+/. - c.1072del r.(?) p.(Thr358GlnfsTer3) Both (homozygous) - pathogenic (recessive) g.180369286del g.180651498del 1072delA - CCDC39_000079 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP384 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents F yes France - - - - - 1 Johan den Dunnen
+/. - c.1072del r.(?) p.(Thr358GlnfsTer3) Parent #1 - pathogenic (recessive) g.180369286del g.180651498del 1072delA - CCDC39_000079 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD OP122 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no Germany - - - - - 1 Johan den Dunnen
-?/. - c.1073C>T r.(?) p.(Thr358Ile) Unknown - likely benign g.180369283G>A g.180651495G>A CCDC39(NM_181426.1):c.1073C>T (p.(Thr358Ile)), CCDC39(NM_181426.2):c.1073C>T (p.T358I) - CCDC39_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1073C>T r.(?) p.(Thr358Ile) Unknown - likely benign g.180369283G>A g.180651495G>A CCDC39(NM_181426.1):c.1073C>T (p.(Thr358Ile)), CCDC39(NM_181426.2):c.1073C>T (p.T358I) - CCDC39_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1073C>T r.(?) p.(Thr358Ile) Unknown - likely benign g.180369283G>A g.180651495G>A CCDC39(NM_181426.1):c.1073C>T (p.(Thr358Ile)), CCDC39(NM_181426.2):c.1073C>T (p.T358I) - CCDC39_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073C>T r.(?) p.(Thr358Ile) Parent #1 - VUS g.180369283G>A g.180651495G>A - - CCDC39_000023 parental studies revealed variants in cis PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat3 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.1076A>C r.(?) p.(Lys359Thr) Parent #1 - VUS g.180369280T>G g.180651492T>G - - CCDC39_000066 parental studies revealed variants in cis PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat3 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.1167+1261A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.180367928T>C g.180650140T>C - - CCDC39_000065 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat4 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems; family, 2 affected cousins - - United Arab Emirates - - - - - 2 Johan den Dunnen
+/. - c.1167+1261A>G r.1167_1168ins[1167+1154_1167+1260] p.Glu390SerfsTer6 Parent #2 - pathogenic (recessive) g.180367928T>C g.180650140T>C - - CCDC39_000065 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP580 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no Senegal West Indies - - - - 1 Johan den Dunnen
+?/. - c.1168-32A>G r.spl p.? Parent #2 - VUS g.180366179T>C g.180648391T>C - - CCDC39_000078 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP481 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no Algeria - - - - - 1 Johan den Dunnen
?/. - c.1198G>T r.(?) p.(Gly400Cys) Parent #1 - VUS g.180366117C>A g.180648329C>A - - CCDC39_000053 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147383873 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.1229A>G r.(?) p.(Gln410Arg) Unknown - VUS g.180366086T>C g.180648298T>C CCDC39(NM_181426.2):c.1229A>G (p.Q410R) - CCDC39_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1248A>G r.(?) p.(Glu416=) Unknown - benign g.180366067T>C g.180648279T>C CCDC39(NM_181426.2):c.1248A>G (p.E416=) - CCDC39_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1359C>T r.(?) p.(Ser453=) Unknown - benign g.180365956G>A g.180648168G>A CCDC39(NM_181426.2):c.1359C>T (p.S453=) - CCDC39_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1359C>T r.(?) p.(Ser453=) Unknown - benign g.180365956G>A g.180648168G>A CCDC39(NM_181426.2):c.1359C>T (p.S453=) - CCDC39_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1363-13dup r.(=) p.(=) Unknown - benign g.180365054dup g.180647266dup CCDC39(NM_181426.2):c.1363-13dupT - CCDC39_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1363-3del r.spl? p.? Unknown - benign g.180365034del g.180647246del CCDC39(NM_181426.1):c.1363-3delC (p.?), CCDC39(NM_181426.2):c.1363-3delC - CCDC39_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1363-3del r.spl? p.? Unknown - VUS g.180365034del g.180647246del CCDC39(NM_181426.1):c.1363-3delC (p.?), CCDC39(NM_181426.2):c.1363-3delC - CCDC39_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1363-3delC r.spl? p.? Parent #1 - VUS g.180365034del g.180647246del 1363-3delC - CCDC39_000019 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat5 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.1363-3delC r.spl p.? Parent #1 - pathogenic (recessive) g.180365034del g.180647246del 1363-3delC - CCDC39_000019 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP481 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no Algeria - - - - - 1 Johan den Dunnen
+/. - c.1411G>T r.(?) p.(Glu471Ter) Both (homozygous) - pathogenic (recessive) g.180364983C>A g.180647195C>A 1410G>T - CCDC39_000077 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD OI5PatII1 PubMed: Merveille 2011 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Israel - - - - - 1 Johan den Dunnen
-?/. - c.1417A>G r.(?) p.(Asn473Asp) Unknown - likely benign g.180364977T>C g.180647189T>C - - CCDC39_000076 - PubMed: Alsamri 2021 - rs1241950069 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.1433A>G r.(?) p.(Gln478Arg) Parent #1 - likely benign g.180364961T>C g.180647173T>C - - CCDC39_000052 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115545935 Germline - 8/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.1433A>G r.(?) p.(Gln478Arg) Unknown - likely benign g.180364961T>C g.180647173T>C CCDC39(NM_181426.1):c.1433A>G (p.(Gln478Arg)) - CCDC39_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1450del r.(?) p.(Ile484LeufsTer47) Parent #1 - pathogenic (recessive) g.180364948del g.180647160del 1450delA - CCDC39_000003 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD14 PCD211 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents F - Portugal - - - - - 1 Hannah Mitchison
-?/. - c.1459C>G r.(?) p.(Leu487Val) Unknown - likely benign g.180364935G>C - CCDC39(NM_181426.1):c.1459C>G (p.(Leu487Val)) - CCDC39_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1486_1487insA r.(?) p.(Ser496Tyrfs*15) Maternal (confirmed) - pathogenic (recessive) g.180364907_180364908insT g.180647119_180647120insT - - CCDC39_000010 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ-NG - - CILD14 PCD22 PubMed: Antony 2013 2-generation family, 3 affected (2 sister/brother), unaffected heterozygous carrier parents/relatives F;M - Germany - - - - - 3 Hannah Mitchison
-?/. - c.1528-11_1528-10del r.spl? p.? Unknown - likely benign g.180362056_180362057del g.180644268_180644269del 1528-11_1528-10delCT - CCDC39_000075 - PubMed: Alsamri 2021 - rs765966793 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.1638A>C r.(1638A>C) p.(Glu546Asp) Both (homozygous) ACMG VUS g.180361935T>G g.180644147T>G - - CCDC39_000084 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Whole blood WGS (whole genome sequencing) INFF 2244_Case3 - - F yes Egypt - - - - - 1 Rima Slim
+?/. - c.1638A>C r.(1638A>C) p.(Glu546Asp) Both (homozygous) ACMG VUS g.180361935T>G g.180644147T>G - - CCDC39_000084 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Whole blood - INF 2261_Case3 - Severe oligospermia M yes Egypt - - - - - 1 Rima Slim
+/. - c.1714C>T r.(?) p.(Arg572Ter) Unknown - pathogenic g.180359941G>A g.180642153G>A CCDC39(NM_181426.2):c.1714C>T (p.R572*) - CCDC39_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1714C>T r.(?) p.(Arg572Ter) Both (homozygous) - pathogenic (recessive) g.180359941G>A g.180642153G>A - - CCDC39_000043 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP181 PubMed: Merveille 2011 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Algeria - - - - - 1 Johan den Dunnen
?/. - c.1732A>G r.(?) p.(Lys578Glu) Unknown - VUS g.180359923T>C g.180642135T>C CCDC39(NM_181426.2):c.1732A>G (p.K578E) - CCDC39_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1781C>T r.(?) p.(Thr594Ile) Unknown - likely benign g.180359874G>A g.180642086G>A CCDC39(NM_181426.1):c.1781C>T (p.(Thr594Ile)), CCDC39(NM_181426.2):c.1781C>T (p.T594I) - CCDC39_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1781C>T r.(?) p.(Thr594Ile) Unknown - likely benign g.180359874G>A g.180642086G>A CCDC39(NM_181426.1):c.1781C>T (p.(Thr594Ile)), CCDC39(NM_181426.2):c.1781C>T (p.T594I) - CCDC39_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1781C>T r.(?) p.(Thr594Ile) Parent #2 - likely benign g.180359874G>A g.180642086G>A - - CCDC39_000017 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat5 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+?/. - c.1781C>T r.(?) p.(Thr594Ile) Unknown - VUS g.180359874G>A g.180642086G>A - - CCDC39_000017 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP481 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no Algeria - - - - - 1 Johan den Dunnen
+?/. - c.1792G>T r.(?) p.(Glu598Ter) Unknown - VUS g.180359863C>A g.180642075C>A - - CCDC39_000074 - 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
+/. 13 c.1795C>T r.(?) p.(Arg599Ter) Both (homozygous) - pathogenic (recessive) g.180359860G>A g.180642072G>A - - CCDC39_000008 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD14 PCD113 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Hannah Mitchison
-?/. - c.1885C>T r.(?) p.(Arg629Cys) Unknown - likely benign g.180349370G>A g.180631582G>A - - CCDC39_000073 - PubMed: Alsamri 2021 - rs199526690 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.1888G>A r.(?) p.(Glu630Lys) Unknown - VUS g.180349367C>T - CCDC39(NM_181426.2):c.1888G>A (p.(Glu630Lys)) - CCDC39_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1960G>A r.(?) p.(Gly654Arg) Unknown - VUS g.180349295C>T g.180631507C>T CCDC39(NM_181426.1):c.1960G>A (p.(Gly654Arg)), CCDC39(NM_181426.2):c.1960G>A (p.G654R) - CCDC39_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1960G>A r.(?) p.(Gly654Arg) Unknown - VUS g.180349295C>T g.180631507C>T CCDC39(NM_181426.1):c.1960G>A (p.(Gly654Arg)), CCDC39(NM_181426.2):c.1960G>A (p.G654R) - CCDC39_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1966_1973del r.(?) p.(Glu656Asnfs*21) Unknown - likely pathogenic g.180349289_180349296del - CCDC39(NM_181426.2):c.1966_1973del (p.(Glu656Asnfs*21)) - CCDC39_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1999-2A>T r.spl? p.? Unknown - pathogenic g.180337760T>A g.180619972T>A - - CCDC39_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.2039_2040del r.(?) p.(Cys680Phefs*9) Parent #1 - pathogenic (recessive) g.180337718_180337719del g.180619930_180619931del 2039_2040delGT - CCDC39_000009 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD14 PCD186 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents F - Zimbabwe - - - - - 1 Hannah Mitchison
-?/. - c.2057A>G r.(?) p.(Asn686Ser) Unknown - likely benign g.180337700T>C - CCDC39(NM_181426.1):c.2057A>G (p.(Asn686Ser)) - CCDC39_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2158+1G>A r.spl? p.? Unknown - pathogenic g.180337598C>T - CCDC39(NM_181426.2):c.2158+1G>A - CCDC39_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 15i c.2159-2A>G r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.180337155T>C g.180619367T>C - - CCDC39_000011 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ-NG - - CILD14 PCD22 PubMed: Antony 2013 2-generation family, 3 affected (2 sister/brother), unaffected heterozygous carrier parents/relatives F;M - Germany - - - - - 3 Hannah Mitchison
-?/. - c.2183A>G r.(?) p.(Gln728Arg) Unknown - likely benign g.180337129T>C g.180619341T>C CCDC39(NM_181426.1):c.2183A>G (p.(Gln728Arg)) - CCDC39_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2190del r.(?) p.(Glu731AsnfsTer31) Both (homozygous) - pathogenic (recessive) g.180337123del g.180619335del 2190delA - CCDC39_000072 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP85 PubMed: Merveille 2011 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Algeria - - - - - 1 Johan den Dunnen
+/. - c.2190del r.(?) p.(Glu731AsnfsTer31) Both (homozygous) - pathogenic (recessive) g.180337123del g.180619335del 2190delA - CCDC39_000072 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP91 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes France - - - - - 1 Johan den Dunnen
+/. - c.2190del r.(?) p.(Glu731AsnfsTer31) Both (homozygous) - pathogenic (recessive) g.180337123del g.180619335del 2190delA - CCDC39_000072 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD Fam1PatDCP413 PubMed: Merveille 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes France Africa-N - - - - 1 Johan den Dunnen
+/. - c.2190del r.(?) p.(Glu731AsnfsTer31) Both (homozygous) - pathogenic (recessive) g.180337123del g.180619335del 2190delA - CCDC39_000072 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD Fam1PatDCP414 PubMed: Merveille 2011 brother M yes France Africa-N - - - - 1 Johan den Dunnen
+/. - c.2190del r.(?) p.(Glu731AsnfsTer31) Both (homozygous) - pathogenic (recessive) g.180337123del g.180619335del 2190delA - CCDC39_000072 - PubMed: Merveille 2011 - - Germline - - - - - DNA SEQ - - CILD DCP532 PubMed: Merveille 2011 2-generation family, 1 affected, unaffected parents M no Tunisia - - - - - 1 Johan den Dunnen
-?/. - c.2230C>G r.(?) p.(Gln744Glu) Unknown - likely benign g.180337082G>C - CCDC39(NM_181426.2):c.2230C>G (p.(Gln744Glu)) - CCDC39_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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