Full data view for gene CCDC40

Information The variants shown are described using the NM_017950.3 transcript reference sequence.

306 entries on 4 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.18C>T r.(?) p.(Gly6=) Unknown - VUS g.78010479C>T g.80036680C>T CCDC40(NM_017950.3):c.18C>T (p.G6=) - CCDC40_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29+6C>G r.(?) p.(=) Unknown ACMG VUS g.78010496C>G g.80036697C>G - - CCDC40_000230 - - - - De novo - 1/12 trios - - - DNA SEQ blood WGS ADHD 200C - - M - Hong Kong Chinese - - - - 1 Larry Baum
?/. - c.38C>T r.(?) p.(Pro13Leu) Unknown - VUS g.78011930C>T g.80038131C>T CCDC40(NM_001243342.1):c.38C>T (p.(Pro13Leu)) - CCDC40_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.62G>T r.(?) p.(Gly21Val) Both (homozygous) - pathogenic (recessive) g.78011954G>T g.80038155G>T - - CCDC40_000213 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat8 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems; 2-generation family, 2 affected sibs, unaffected parents - - United Arab Emirates - - - - - 2 Johan den Dunnen
?/. - c.91A>G r.(?) p.(Met31Val) Unknown - VUS g.78011983A>G - CCDC40(NM_017950.3):c.91A>G (p.M31V) - CCDC40_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.94-7T>C r.(=) p.(=) Unknown - VUS g.78013604T>C g.80039805T>C CCDC40(NM_001243342.1):c.94-7T>C (p.(=)) - CCDC40_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>A r.(?) p.(Thr58=) Unknown - likely benign g.78013691C>A g.80039892C>A CCDC40(NM_017950.3):c.174C>A (p.T58=) - CCDC40_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180G>A r.(?) p.(Ala60=) Unknown - likely benign g.78013697G>A - CCDC40(NM_017950.3):c.180G>A (p.A60=), CCDC40(NM_017950.4):c.180G>A (p.(Ala60=)) - CCDC40_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180G>A r.(?) p.(Ala60=) Unknown - likely benign g.78013697G>A - CCDC40(NM_017950.3):c.180G>A (p.A60=), CCDC40(NM_017950.4):c.180G>A (p.(Ala60=)) - CCDC40_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207G>C r.(?) p.(Val69=) Unknown - benign g.78013724G>C g.80039925G>C CCDC40(NM_017950.3):c.207G>C (p.V69=), CCDC40(NM_017950.4):c.207G>C (p.V69=) - CCDC40_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.207G>C r.(?) p.(Val69=) Unknown - benign g.78013724G>C g.80039925G>C CCDC40(NM_017950.3):c.207G>C (p.V69=), CCDC40(NM_017950.4):c.207G>C (p.V69=) - CCDC40_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 PCD17 PubMed: Antony 2013 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Belgium - - - - - 2 Hannah Mitchison
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Parent #1 - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD15 UNC533 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents - - United States - - - - - 1 Hannah Mitchison
+/. - c.248del r.(?) p.(Ala83ValfsTer84) Unknown - pathogenic g.78013765del g.80039966del CCDC40(NM_017950.4):c.248delC (p.A83Vfs*84) - CCDC40_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.248del r.(?) p.(Ala83ValfsTer84) Unknown - pathogenic g.78013765del - CCDC40(NM_017950.4):c.248delC (p.A83Vfs*84) - CCDC40_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Parent #2 ACMG pathogenic g.78013765del g.80039966del - - CCDC40_000012 - - ClinVar-31069 rs397515393 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) - - - - - 1 Marketa Wayhelova
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 PCD147 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 PCD199 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 PCD216 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 OP-560 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Belgium - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC120 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC122 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC176 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC188 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC281 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC336 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC337 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC455 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC507 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC553 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Both (homozygous) - pathogenic (recessive) g.78013765del g.80039966del 248delC - CCDC40_000012 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 UNC609 PubMed: Antony 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.248del r.(?) p.(Ala83Valfs*84) Parent #1 - pathogenic (recessive) g.78013765del g.80039966del - - CCDC40_000012 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD15 KUL001 PubMed: Antony 2013 - - - Belgium - - - - - 1 Hannah Mitchison
-?/. - c.257A>G r.(?) p.(Tyr86Cys) Unknown - likely benign g.78013774A>G - CCDC40(NM_017950.3):c.257A>G (p.(Tyr86Cys)) - CCDC40_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.257A>G r.(?) p.(Tyr86Cys) Parent #2 - pathogenic (recessive) g.78013774A>G g.80039975A>G - - CCDC40_000208 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat6 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.308C>T r.(?) p.(Pro103Leu) Unknown - VUS g.78013825C>T - CCDC40(NM_017950.3):c.308C>T (p.(Pro103Leu)) - CCDC40_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334A>G r.(?) p.(Thr112Ala) Unknown - likely benign g.78013851A>G g.80040052A>G CCDC40(NM_017950.3):c.334A>G (p.T112A, p.(Thr112Ala)) - CCDC40_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334A>G r.(?) p.(Thr112Ala) Unknown - likely benign g.78013851A>G g.80040052A>G CCDC40(NM_017950.3):c.334A>G (p.T112A, p.(Thr112Ala)) - CCDC40_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.344del r.(?) p.(Pro115Argfs*52) Parent #2 - pathogenic (recessive) g.78013861del g.80040062del 344delC - CCDC40_000011 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD15 UNC299 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents - - United States - - - - - 1 Hannah Mitchison
-/. - c.507G>A r.(?) p.(Ser169=) Unknown - benign g.78014024G>A g.80040225G>A CCDC40(NM_017950.3):c.507G>A (p.S169=) - CCDC40_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.553-17G>C r.(=) p.(=) Unknown - benign g.78021061G>C g.80047262G>C CCDC40(NM_017950.3):c.553-17G>C - CCDC40_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.580C>T r.(?) p.(Gln194*) Unknown - VUS g.78021105C>T - CCDC40(NM_017950.4):c.580C>T (p.(Gln194*)) - CCDC40_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.614G>A r.(?) p.(Arg205Gln) Unknown - likely benign g.78021139G>A g.80047340G>A CCDC40(NM_001243342.1):c.614G>A (p.(Arg205Gln)) - CCDC40_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.630C>T r.(=) p.(=) Parent #1 - VUS g.78021155C>T g.80047356C>T - - CCDC40_000178 conflicting interpretations of pathogenicity; 38 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117419007 Germline - 38/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 38 Mohammed Faruq
?/. - c.631G>A r.(?) p.(Asp211Asn) Unknown - VUS g.78021156G>A g.80047357G>A CCDC40(NM_001243342.1):c.631G>A (p.(Asp211Asn)) - CCDC40_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648C>T r.(?) p.(Asp216=) Unknown - likely benign g.78021173C>T g.80047374C>T CCDC40(NM_017950.3):c.648C>T (p.D216=) - CCDC40_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.673C>G r.(?) p.(Pro225Ala) Unknown - VUS g.78021198C>G - CCDC40(NM_017950.4):c.673C>G (p.(Pro225Ala)) - CCDC40_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.676+13T>C r.(=) p.(=) Unknown - benign g.78021214T>C g.80047415T>C CCDC40(NM_017950.3):c.676+13T>C, CCDC40(NM_017950.4):c.676+13T>C - CCDC40_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.676+13T>C r.(=) p.(=) Unknown - benign g.78021214T>C g.80047415T>C CCDC40(NM_017950.3):c.676+13T>C, CCDC40(NM_017950.4):c.676+13T>C - CCDC40_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.677-4C>G r.spl? p.? Unknown - benign g.78022378C>G g.80048579C>G CCDC40(NM_017950.3):c.677-4C>G, CCDC40(NM_017950.4):c.677-4C>G - CCDC40_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.677-4C>G r.spl? p.? Unknown - benign g.78022378C>G g.80048579C>G CCDC40(NM_017950.3):c.677-4C>G, CCDC40(NM_017950.4):c.677-4C>G - CCDC40_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.687del r.(?) p.(Val231Cysfs*57) Parent #2 - pathogenic (recessive) g.78022392del g.80048593del 687delA - CCDC40_000010 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ-NG - - CILD15 KUL001 PubMed: Antony 2013 - - - Belgium - - - - - 1 Hannah Mitchison
-?/. - c.697G>A r.(?) p.(Asp233Asn) Parent #2 - likely benign g.78022402G>A g.80048603G>A - - CCDC40_000214 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat7 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
-?/. - c.699T>C r.(?) p.(Asp233=) Unknown - likely benign g.78022404T>C - CCDC40(NM_017950.3):c.699T>C (p.D233=) - CCDC40_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.728dup r.(?) p.(Phe244ValfsTer25) Unknown - pathogenic g.78022433dup g.80048634dup - - CCDC40_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760G>A r.(?) p.(Glu254Lys) Unknown - VUS g.78022465G>A g.80048666G>A CCDC40(NM_001243342.1):c.760G>A (p.(Glu254Lys)) - CCDC40_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.850G>C r.(?) p.(Asp284His) Unknown - likely benign g.78022555G>C g.80048756G>C CCDC40(NM_001243342.1):c.850G>C (p.(Asp284His)), CCDC40(NM_017950.3):c.850G>C (p.D284H) - CCDC40_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850G>C r.(?) p.(Asp284His) Unknown - VUS g.78022555G>C - CCDC40(NM_001243342.1):c.850G>C (p.(Asp284His)), CCDC40(NM_017950.3):c.850G>C (p.D284H) - CCDC40_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850G>C r.(?) p.(Asp284His) Parent #1 - VUS g.78022555G>C g.80048756G>C - - CCDC40_000110 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat7 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.863T>A r.(?) p.(Met288Lys) Unknown - VUS g.78023712T>A g.80049913T>A CCDC40(NM_017950.3):c.863T>A (p.M288K) - CCDC40_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.873C>T r.(?) p.(Phe291=) Unknown - benign g.78023722C>T g.80049923C>T CCDC40(NM_017950.3):c.873C>T (p.F291=) - CCDC40_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.901C>T r.(?) p.(Arg301Ter) Unknown - pathogenic g.78023750C>T g.80049951C>T - - CCDC40_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.940-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.78023861A>G g.80050062A>G - - CCDC40_000008 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD15 UNC299 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents - - United States - - - - - 1 Hannah Mitchison
-?/. - c.946G>A r.(?) p.(Ala316Thr) Parent #1 - likely benign g.78023869G>A g.80050070G>A - - CCDC40_000179 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61998241 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.952A>G r.(?) p.(Lys318Glu) Unknown - VUS g.78023875A>G - CCDC40(NM_017950.4):c.952A>G (p.(Lys318Glu)) - CCDC40_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.961C>T r.(?) p.(Arg321*) Parent #2 - pathogenic (recessive) g.78023884C>T g.80050085C>T - - CCDC40_000009 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD15 UNC533 PubMed: Antony 2013 2-generation family, 1 affected, unaffected parents - - United States - - - - - 1 Hannah Mitchison
+/. - c.961C>T r.(?) p.(Arg321*) Unknown - pathogenic g.78023884C>T - CCDC40(NM_017950.4):c.961C>T (p.(Arg321*)) - CCDC40_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.961C>T r.(?) p.(Arg321*) Parent #1 - pathogenic (recessive) g.78023884C>T g.80050085C>T - - CCDC40_000009 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD15 UNC175 PubMed: Antony 2013 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.962G>A r.(?) p.(Arg321Gln) Unknown - VUS g.78023885G>A g.80050086G>A CCDC40(NM_017950.3):c.962G>A (p.R321Q) - CCDC40_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1006C>T r.(?) p.(Gln336*) Both (homozygous) - pathogenic (recessive) g.78023929C>T g.80050130C>T - - CCDC40_000007 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ-NG - - CILD15 PCD133 PubMed: Antony 2013 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Pakistan - - - - - 2 Hannah Mitchison
+?/. 7 c.1006C>T r.(?) p.(Gln336*) Both (homozygous) - likely pathogenic (recessive) g.78023929C>T g.80050130C>T - - CCDC40_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CILD - - - - - - - - - - - 2 Christopher Watson
?/. - c.1025A>G r.(?) p.(Gln342Arg) Unknown - VUS g.78023948A>G g.80050149A>G CCDC40(NM_017950.3):c.1025A>G (p.Q342R) - CCDC40_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073dup r.(?) p.(Arg359AlafsTer35) Unknown - VUS g.78023996dup g.80050197dup CCDC40(NM_001243342.1):c.1072_1073insA (p.(Arg359AlafsTer35)) - CCDC40_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1097del r.(?) p.(Leu366ArgfsTer52) Unknown - VUS g.78024020del g.80050221del 1097delT - CCDC40_000218 - 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.1105G>A r.(?) p.(Ala369Thr) Unknown - likely benign g.78024028G>A - CCDC40(NM_017950.3):c.1105G>A (p.A369T) - CCDC40_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109G>A r.(?) p.(Arg370His) Unknown - likely benign g.78024032G>A g.80050233G>A CCDC40(NM_001243342.1):c.1109G>A (p.(Arg370His)) - CCDC40_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1123A>C r.(?) p.(Lys375Gln) Unknown - likely benign g.78024046A>C g.80050247A>C CCDC40(NM_001243342.1):c.1123A>C (p.(Lys375Gln)), CCDC40(NM_017950.3):c.1123A>C (p.K375Q) - CCDC40_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1123A>C r.(?) p.(Lys375Gln) Unknown - likely benign g.78024046A>C g.80050247A>C CCDC40(NM_001243342.1):c.1123A>C (p.(Lys375Gln)), CCDC40(NM_017950.3):c.1123A>C (p.K375Q) - CCDC40_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1131C>T r.(?) p.(=) Unknown - likely benign g.78024054C>T - CCDC40(NM_017950.4):c.1131C>T (p.(Cys377=)) - CCDC40_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1159+12C>T r.(=) p.(=) Unknown - benign g.78024094C>T g.80050295C>T CCDC40(NM_017950.3):c.1159+12C>T, CCDC40(NM_017950.4):c.1159+12C>T - CCDC40_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1159+12C>T r.(=) p.(=) Unknown - benign g.78024094C>T g.80050295C>T CCDC40(NM_017950.3):c.1159+12C>T, CCDC40(NM_017950.4):c.1159+12C>T - CCDC40_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221C>T r.(?) p.(Ile407=) Unknown - likely benign g.78032354C>T - CCDC40(NM_017950.3):c.1221C>T (p.I407=) - CCDC40_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1248C>T r.(?) p.(Arg416=) Unknown - likely benign g.78032381C>T g.80058582C>T CCDC40(NM_017950.3):c.1248C>T (p.R416=) - CCDC40_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275C>T r.(?) p.(Ala425=) Unknown - likely benign g.78032408C>T - CCDC40(NM_017950.3):c.1275C>T (p.A425=) - CCDC40_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1303G>A r.(?) p.(Glu435Lys) Unknown - VUS g.78032436G>A g.80058637G>A CCDC40(NM_001243342.1):c.1303G>A (p.(Glu435Lys)), CCDC40(NM_017950.3):c.1303G>A (p.E435K) - CCDC40_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1303G>A r.(?) p.(Glu435Lys) Unknown - likely benign g.78032436G>A g.80058637G>A CCDC40(NM_001243342.1):c.1303G>A (p.(Glu435Lys)), CCDC40(NM_017950.3):c.1303G>A (p.E435K) - CCDC40_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1313A>G r.(?) p.(Lys438Arg) Unknown - VUS g.78032446A>G - CCDC40(NM_017950.4):c.1313A>G (p.(Lys438Arg)) - CCDC40_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1338C>T r.(?) p.(Leu446=) Unknown - benign g.78032677C>T g.80058878C>T CCDC40(NM_017950.3):c.1338C>T (p.L446=) - CCDC40_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1345C>T r.(?) p.(Arg449*) Parent #1 - pathogenic (recessive) g.78032684C>T g.80058885C>T - - CCDC40_000006 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD15 UNC660 2-generation family, 1 affected, unaffected parents PubMed: Antony 2013 - - United States - - - - - 1 Hannah Mitchison
-?/. - c.1372G>A r.(?) p.(Ala458Thr) Unknown - likely benign g.78032711G>A g.80058912G>A CCDC40(NM_001243342.1):c.1372G>A (p.(Ala458Thr)) - CCDC40_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1379T>A r.(?) p.(Phe460Tyr) Unknown - VUS g.78032718T>A - CCDC40(NM_017950.4):c.1379T>A (p.(Phe460Tyr)) - CCDC40_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1414C>T r.(?) p.(Arg472Trp) Unknown - VUS g.78032753C>T - CCDC40(NM_017950.4):c.1414C>T (p.R472W) - CCDC40_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1416del r.(?) p.(Ile473Phefs*2) Both (homozygous) - pathogenic (recessive) g.78032755del g.80058956del 1415delG - CCDC40_000003 - PubMed: Antony 2013 - - Germline yes - - - - DNA SEQ - - CILD15 PCD129 PubMed: Antony 2013 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 2 Hannah Mitchison
+?/? 9 c.1416del r.(?) p.(Ile473Phefs*2) Both (homozygous) - likely pathogenic g.78032755del g.80058956del - - CCDC40_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
-?/. - c.1445G>A r.(?) p.(Cys482Tyr) Parent #1 - likely benign g.78039288G>A g.80065489G>A - - CCDC40_000215 - PubMed: Alsamri 2021 - - Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD Pat6 PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
-?/. - c.1459G>A r.(?) p.(Ala487Thr) Unknown - likely benign g.78039302G>A g.80065503G>A CCDC40(NM_017950.3):c.1459G>A (p.A487T) - CCDC40_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1464del r.(?) p.(Ser489Alafs*18) Both (homozygous) - pathogenic (recessive) g.78039307del g.80065508del 1464delC - CCDC40_000001 - PubMed: Antony 2013 - - Germline - - - - - DNA SEQ - - CILD15 OP561 PubMed: Antony 2013 - - - Morocco - - - - - 1 Hannah Mitchison
-?/. - c.1466G>T r.(?) p.(Ser489Ile) Unknown - likely benign g.78039309G>T g.80065510G>T CCDC40(NM_017950.4):c.1466G>T (p.(Ser489Ile)) - CCDC40_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1467C>A r.(?) p.(Ser489Arg) Unknown - likely benign g.78039310C>A g.80065511C>A CCDC40(NM_001243342.1):c.1467C>A (p.(Ser489Arg)), CCDC40(NM_017950.3):c.1467C>A (p.S489R) - CCDC40_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1467C>A r.(?) p.(Ser489Arg) Unknown - likely benign g.78039310C>A - CCDC40(NM_001243342.1):c.1467C>A (p.(Ser489Arg)), CCDC40(NM_017950.3):c.1467C>A (p.S489R) - CCDC40_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1479G>T r.(?) p.(Arg493Ser) Unknown - VUS g.78039322G>T g.80065523G>T CCDC40(NM_017950.3):c.1479G>T (p.R493S) - CCDC40_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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