Full data view for gene CFTR

Information The variants shown are described using the NM_000492.3 transcript reference sequence.

2038 entries on 21 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.-16C>T r.(?) p.(=) Unknown - likely benign g.117120133C>T - - - CFTR_001649 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.-9_14del r.? p.? Unknown - pathogenic (recessive) g.117120140_117120162del g.117480086_117480108del 124del23bp, -9_14del23 - CFTR_001157 see the CFTR2 database for details copy received from the CFTR2 database - rs397508136 SUMMARY record - 6/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
-/. - c.-8G>C r.(?) p.(=) Unknown - benign g.117120141G>C g.117480087G>C CFTR(NM_000492.3):c.-8G>C, CFTR(NM_000492.4):c.-8G>C - CFTR_001312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8G>C r.(?) p.(=) Unknown - benign g.117120141G>C g.117480087G>C CFTR(NM_000492.3):c.-8G>C, CFTR(NM_000492.4):c.-8G>C - CFTR_001312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8G>C r.(?) p.(=) Unknown - benign g.117120141G>C g.117480087G>C CFTR(NM_000492.3):c.-8G>C, CFTR(NM_000492.4):c.-8G>C - CFTR_001312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.-8G>C r.(?) p.(=) Unknown - benign g.117120141G>C g.117480087G>C 125G/C - CFTR_001312 see the CFTR2 database for details; classification recently changed copy received from the CFTR2 database - rs1800501 SUMMARY record - 8/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
?/. - c.-4G>C r.(?) p.(=) Parent #2 - VUS g.117120145G>C g.117480091G>C [350G>A;)TG12,5T;-4G>C] - CFTR_001495 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted newborn screening - - Ireland - - - - - 1 Erina Sasaki
+/+ 1 c.1A>G r.(?) p.(Met1?) Unknown - pathogenic (recessive) g.117120149A>G g.117480095A>G M1V - CFTR_000155 see the CFTR2 database for details copy received from the CFTR2 database-155 - rs397508328 SUMMARY record - 26/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ _1_1i c.(?_1)_(53+1_54-1)del r.(?) p.0? Unknown - pathogenic (recessive) g.(?_117120149)_(117120202_117144306)del - CFTRdele1 - CFTR_001158 see the CFTR2 database for details copy received from the CFTR2 database - - SUMMARY record - 6/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. - c.2T>C r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.117120150T>C g.117480096T>C - - CFTR_001453 - PubMed: Savarese 2014 - - Germline yes - - - - DNA SEQ - - CF, EVR5, EVR;FEVR VL IV:1 PubMed: Poulter 2012 PubMed: Savarese 2014 4 generation family, 1 affected F yes Pakistan - - - - - 1 Jasmine Chen
+/+ 1 c.4C>T r.(?) p.(Gln2*) Unknown - pathogenic (recessive) g.117120152C>T g.117480098C>T Q2X - CFTR_001159 see the CFTR2 database for details copy received from the CFTR2 database - rs397508740 SUMMARY record - 5/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 1 c.11C>A r.(?) p.(Ser4*) Unknown - pathogenic (recessive) g.117120159C>A g.117480105C>A S4X - CFTR_001160 see the CFTR2 database for details copy received from the CFTR2 database - rs397508173 SUMMARY record - 14/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. - c.11C>A r.(?) p.(Ser4*) Parent #1 - pathogenic g.117120159C>A g.117480105C>A - - CFTR_001160 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397508173 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.14C>T r.(?) p.(Pro5Leu) Unknown - likely pathogenic (!) g.117120162C>T g.117480108C>T P5L - CFTR_001508 see the CFTR2 database for details; varying clinical consequence copy received from the CFTR2 database - rs193922501 SUMMARY record - 60/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+?/. - c.14C>T r.(?) p.(Pro5Leu) Unknown - likely pathogenic g.117120162C>T - - - CFTR_001508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31G>A r.(?) p.(Val11Ile) Unknown - likely benign g.117120179G>A - CFTR(NM_000492.3):c.31G>A (p.V11I), CFTR(NM_000492.4):c.31G>A (p.V11I) - CFTR_001610 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31G>A r.(?) p.(Val11Ile) Unknown - VUS g.117120179G>A - CFTR(NM_000492.3):c.31G>A (p.V11I), CFTR(NM_000492.4):c.31G>A (p.V11I) - CFTR_001610 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.31G>A r.(?) p.(Val11Ile) Unknown - VUS g.117120179G>A - CFTR(NM_000492.3):c.31G>A (p.V11I), CFTR(NM_000492.4):c.31G>A (p.V11I) - CFTR_001610 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.37T>C r.(?) p.(Ser13Pro) Unknown - likely pathogenic g.117120185T>C - - - CFTR_001734 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (recessive) g.117120186C>T g.117480132C>T S13F - CFTR_001509 see the CFTR2 database for details copy received from the CFTR2 database - rs397508635 SUMMARY record - 3/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ - c.44T>C r.(?) p.(Leu15Pro) Unknown - pathogenic (recessive) g.117120192T>C g.117480138T>C L15P - CFTR_001510 see the CFTR2 database for details copy received from the CFTR2 database - rs1562876459 SUMMARY record - 4/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. - c.44T>C r.(?) p.(Leu15Pro) Unknown - pathogenic g.117120192T>C - - - CFTR_001510 - - - rs1562876459 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.50del r.(?) p.(Phe17Serfs*8) Unknown - pathogenic (recessive) g.117120198del g.117480144del 182delT, 50delT - CFTR_001161 see the CFTR2 database for details copy received from the CFTR2 database - rs397508742 SUMMARY record - 9/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 1i c.53+1G>T r.spl p.? Unknown - pathogenic (recessive) g.117120202G>T g.117480148G>T 185+1G->T - CFTR_001162 see the CFTR2 database for details copy received from the CFTR2 database - rs397508746 SUMMARY record - 8/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
-/. - c.53+21G>A r.(=) p.(=) Unknown - benign g.117120222G>A g.117480168G>A CFTR(NM_000492.3):c.53+21G>A - CFTR_001313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i_3i c.54-5940_273+10250del r.del? p.(Ser18Argfs*16) Unknown - VUS g.117138367_117159446del g.117498313_117519392del INTRON 1_3, 21,080 BP DEL - CFTR_000014 - - - - Unknown - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 1i_3i c.54-5940_273+10250del r.(?) p.(Ser18Argfs*16) Unknown - pathogenic (recessive) g.117138367_117159446del g.117498313_117519392del CFTRdele2,3 - CFTR_000014 see the CFTR2 database for details copy received from the CFTR2 database-14 - - SUMMARY record - 417/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. 1i_3i c.54-5940_273+10250del r.(?) p.(Ser18Argfs*16) Parent #1 - pathogenic (recessive) g.117138367_117159446del g.117498313_117519392del - - CFTR_000014 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.54-589A>G r.(?) p.(?) Unknown - likely benign g.117143718A>G - - - CFTR_001668 - - - rs34654194 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.54-13C>G r.(?) p.(?) Unknown - VUS g.117144294C>G - - - CFTR_001669 - - - rs397508749 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i_2i c.(53+1_54-1)_(164+1_165-1)del r.? p.? Unknown - pathogenic (recessive) g.(117120202_117144306)_(117144418_117149087)del - CFTRdele2 - CFTR_001163 see the CFTR2 database for details copy received from the CFTR2 database - - SUMMARY record - 46/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 1i_4i c.(53+1_54-1)_(489+1_490-1)del r.? p.? Unknown - pathogenic (recessive) g.(117120202_117144306)_(117171169_117174329)del - CFTRdele2-4 - CFTR_001164 see the CFTR2 database for details copy received from the CFTR2 database - - SUMMARY record - 4/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 2 c.57G>A r.(?) p.(Trp19*) Unknown - pathogenic (recessive) g.117144310G>A g.117504256G>A W19X - CFTR_001165 see the CFTR2 database for details copy received from the CFTR2 database - rs397508762 SUMMARY record - 4/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ - c.79G>A r.(?) p.(Gly27Arg) Unknown - pathogenic (recessive) g.117144332G>A g.117504278G>A G27R - CFTR_001511 see the CFTR2 database for details copy received from the CFTR2 database - rs397508796 SUMMARY record - 3/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
?/. - c.79G>C r.(?) p.(Gly27Arg) Unknown - VUS g.117144332G>C - - - CFTR_001735 - - - rs397508796 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.79G>T r.(?) p.(Gly27*) Unknown - pathogenic (recessive) g.117144332G>T g.117504278G>T G27X - CFTR_001166 see the CFTR2 database for details copy received from the CFTR2 database - rs397508796 SUMMARY record - 10/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
?/. - c.80G>A r.(?) p.(Gly27Glu) Unknown - VUS g.117144333G>A - - - CFTR_001736 - - - rs397508797 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.88C>T r.(?) p.(Gln30*) Unknown - pathogenic (recessive) g.117144341C>T g.117504287C>T Q30X - CFTR_001512 see the CFTR2 database for details copy received from the CFTR2 database - rs397508815 SUMMARY record - 3/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
-/- 2 c.91C>T r.(?) p.(Arg31Cys) Unknown - benign g.117144344C>T g.117504290C>T R31C - CFTR_000125 see the CFTR2 database for details copy received from the CFTR2 database-125 - rs1800073 SUMMARY record - 23/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
?/. - c.91C>T r.(?) p.(Arg31Cys) Unknown - VUS g.117144344C>T g.117504290C>T CFTR(NM_000492.3):c.91C>T (p.R31C) - CFTR_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Arg31Cys) Parent #1 - VUS g.117144344C>T g.117504290C>T - - CFTR_000125 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800073 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.91C>T r.(?) p.(Arg31Cys) Unknown - benign g.117144344C>T - - - CFTR_000125 - - - rs1800073 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92G>A r.(?) p.(Arg31His) Unknown - VUS g.117144345G>A - CFTR(NM_000492.4):c.92G>A (p.R31H) - CFTR_001605 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.92G>T r.(?) p.(Arg31Leu) Unknown - VUS g.117144345G>T g.117504291G>T R31L - CFTR_001167 see the CFTR2 database for details; classification recently changed copy received from the CFTR2 database - rs149353983 SUMMARY record - 7/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
?/. - c.92G>T r.(?) p.(Arg31Leu) Unknown - VUS g.117144345G>T - - - CFTR_001167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.95T>C r.(?) p.(Leu32Pro) Unknown - likely pathogenic g.117144348T>C - - - CFTR_001670 - - - rs397508821 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.115C>T r.(?) p.(Gln39*) Unknown - pathogenic (recessive) g.117144368C>T g.117504314C>T Q39X - CFTR_000091 see the CFTR2 database for details copy received from the CFTR2 database-91 - rs397508168 SUMMARY record - 47/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. - c.115C>T r.(?) p.(Gln39Ter) Unknown - pathogenic g.117144368C>T g.117504314C>T CFTR(NM_000492.3):c.115C>T (p.Q39*) - CFTR_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.125C>T r.(?) p.(Ser42Phe) Unknown - pathogenic g.117144378C>T g.117504324C>T CFTR(NM_000492.3):c.125C>T (p.S42F), CFTR(NM_000492.4):c.125C>T (p.S42F) - CFTR_001420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125C>T r.(?) p.(Ser42Phe) Parent #1 - VUS g.117144378C>T g.117504324C>T - - CFTR_001420 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143456784 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.125C>T r.(?) p.(Ser42Phe) Unknown - VUS g.117144378C>T - CFTR(NM_000492.3):c.125C>T (p.S42F), CFTR(NM_000492.4):c.125C>T (p.S42F) - CFTR_001420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.125C>T r.(?) p.(Ser42Phe) Unknown - likely pathogenic g.117144378C>T - - - CFTR_001420 - - - rs143456784 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.137C>A r.(?) p.(Ala46Asp) Unknown - pathogenic (recessive) g.117144390C>A g.117504336C>A A46D - CFTR_001168 see the CFTR2 database for details copy received from the CFTR2 database - rs151020603 SUMMARY record - 4/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. - c.137C>A r.(?) p.(Ala46Asp) Unknown - pathogenic g.117144390C>A g.117504336C>A CFTR(NM_000492.3):c.137C>A (p.A46D) - CFTR_001168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i c.164+1G>A r.spl p.? Unknown - pathogenic (recessive) g.117144418G>A g.117504364G>A 296+1G->A - CFTR_001169 see the CFTR2 database for details copy received from the CFTR2 database - rs397508243 SUMMARY record - 3/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 2i c.164+1G>T r.spl p.? Unknown - pathogenic (recessive) g.117144418G>T g.117504364G>T 296+1G->T - CFTR_001170 see the CFTR2 database for details copy received from the CFTR2 database - rs397508243 SUMMARY record - 4/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ - c.164+2T>C r.spl p.? Unknown - pathogenic (recessive) g.117144419T>C g.117504365T>C 296+2T->C - CFTR_001513 see the CFTR2 database for details copy received from the CFTR2 database - rs121908800 SUMMARY record - 3/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ - c.164+4dup r.spl? p.? Unknown - pathogenic (recessive) g.117144421dup g.117504367dup 164+3_164+4insT, 296+3insT - CFTR_001514 see the CFTR2 database for details copy received from the CFTR2 database - rs397508244 SUMMARY record - 4/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
?/. - c.164+12T>C r.(=) p.(=) Parent #1 - VUS g.117144429T>C g.117504375T>C - - CFTR_001140 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.164+12T>C r.(=) p.(=) Unknown - likely benign g.117144429T>C - CFTR(NM_000492.3):c.164+12T>C (p.?) - CFTR_001140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.164+28A>G r.(=) p.(=) Unknown - benign g.117144445A>G g.117504391A>G CFTR(NM_000492.3):c.164+28A>G - CFTR_001421 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.164+28A>G r.spl? p.? Unknown - VUS g.117144445A>G g.117504391A>G 296+28A->G - CFTR_001421 see the CFTR2 database for details copy received from the CFTR2 database - rs34010645 SUMMARY record - 9/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
-?/. - c.165-12dup r.(=) p.(=) Unknown - likely benign g.117149076dup - CFTR(NM_000492.3):c.165-12dupA - CFTR_001630 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.165-3C>T r.spl? p.? Unknown - benign g.117149085C>T g.117509031C>T 297-3C->T - CFTR_001515 see the CFTR2 database for details; classification recently changed copy received from the CFTR2 database - rs200337193 SUMMARY record - 3/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 2i c.165-1G>A r.spl p.? Unknown - pathogenic (recessive) g.117149087G>A g.117509033G>A 297-1G->A - CFTR_001171 see the CFTR2 database for details copy received from the CFTR2 database - rs397508249 SUMMARY record - 5/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 2i_11i;15i_18i c.[(164+1_165-1)_(1584+1_1585-1)del; (2619+1_2620-1)_(2988+1_2989-1)del] r.? p.? Parent #1 - pathogenic (recessive) g.[(117144418_117149087)_(117199710_117227792)del; (117235113_117242879)_(117246808_117250572)de] - CFTRdele3-10,14b-16 - CFTR_001172 see the CFTR2 database for details copy received from the CFTR2 database - - SUMMARY record - 4/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.166G>A r.(?) p.(Glu56Lys) Unknown - pathogenic (recessive) g.117149089G>A g.117509035G>A E56K - CFTR_001173 see the CFTR2 database for details copy received from the CFTR2 database - rs397508256 SUMMARY record - 5/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
?/. - c.166G>A r.(?) p.(Glu56Lys) Unknown - VUS g.117149089G>A - - - CFTR_001173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.169T>G r.(?) p.(Trp57Gly) Unknown - pathogenic (recessive) g.117149092T>G g.117509038T>G W57G - CFTR_001516 see the CFTR2 database for details copy received from the CFTR2 database - rs397508272 SUMMARY record - 10/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.170G>A r.(?) p.(Trp57*) Unknown - pathogenic (recessive) g.117149093G>A g.117509039G>A W57X - CFTR_001174 see the CFTR2 database for details copy received from the CFTR2 database - rs397508279 SUMMARY record - 14/142036 chromosomes CFTR (170^171G>A) - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.171G>A r.(?) p.(Trp57*) Unknown - pathogenic (recessive) g.117149094G>A g.117509040G>A W57X - CFTR_001175 see the CFTR2 database for details copy received from the CFTR2 database - rs121909025 SUMMARY record - 14/142036 chromosomes CFTR (170^171G>A) - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
?/. - c.173A>G r.(?) p.(Asp58Gly) Unknown - VUS g.117149096A>G - - - CFTR_001671 - - - rs397508291 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.174_177del r.(?) p.(Asp58Glufs*32) Unknown - pathogenic (recessive) g.117149097_117149100del g.117509043_117509046del 306delTAGA, 174_177delTAGA - CFTR_001176 see the CFTR2 database for details copy received from the CFTR2 database - rs397508295 SUMMARY record - 6/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.175dup r.(?) p.(Arg59Lysfs*10) Unknown - pathogenic (recessive) g.117149098dup g.117509044dup 306insA, 174_175insA - CFTR_001177 see the CFTR2 database for details copy received from the CFTR2 database - rs397508294 SUMMARY record - 21/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ - c.178G>A r.(?) p.(Glu60Lys) Unknown - pathogenic (recessive) g.117149101G>A g.117509047G>A E60K - CFTR_001517 see the CFTR2 database for details copy received from the CFTR2 database - rs77284892 SUMMARY record - 7/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/+ 3 c.178G>T r.(?) p.(Glu60*) Unknown - pathogenic (recessive) g.117149101G>T g.117509047G>T E60X - CFTR_000025 see the CFTR2 database for details copy received from the CFTR2 database-25 - rs77284892 SUMMARY record - 296/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. - c.178G>T r.(?) p.(Glu60Ter) Unknown - pathogenic g.117149101G>T g.117509047G>T CFTR(NM_000492.3):c.178G>T (p.E60*), CFTR(NM_000492.4):c.178G>T (p.E60*) - CFTR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.178G>T r.(?) p.(Glu60Ter) Unknown - pathogenic g.117149101G>T g.117509047G>T CFTR(NM_000492.3):c.178G>T (p.E60*), CFTR(NM_000492.4):c.178G>T (p.E60*) - CFTR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.178G>T r.(?) p.(Glu60Ter) Unknown - pathogenic g.117149101G>T g.117509047G>T CFTR(NM_000492.3):c.178G>T (p.E60*), CFTR(NM_000492.4):c.178G>T (p.E60*) - CFTR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.178G>T r.(?) p.(Glu60*) Parent #1 - pathogenic g.117149101G>T g.117509047G>T - - CFTR_000025 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77284892 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. - c.178G>T r.(?) p.(Glu60*) Parent #2 - pathogenic (recessive) g.117149101G>T g.117509047G>T Glu60Ter - CFTR_000025 - Sasaki 2020, submitted - - Germline - - - - - DNA PCRm - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+/+ 14 c.200C>T r.(?) p.(Pro67Leu) Unknown - pathogenic (recessive) g.117149123C>T g.117509069C>T P67L - CFTR_000053 see the CFTR2 database for details copy received from the CFTR2 database-53 - rs368505753 SUMMARY record - 239/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+/. - c.200C>T r.(?) p.(Pro67Leu) Unknown - pathogenic g.117149123C>T g.117509069C>T CFTR(NM_000492.4):c.200C>T (p.P67L) - CFTR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.200C>T r.(?) p.(Pro67Leu) Parent #2 - pathogenic (recessive) g.117149123C>T g.117509069C>T - - CFTR_000053 - Sasaki 2020, submitted - - Germline - - - - - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - - - - 1 Erina Sasaki
+?/. - c.200C>T r.(?) p.(Pro67Leu) Unknown - likely pathogenic g.117149123C>T - CFTR(NM_000492.4):c.200C>T (p.P67L) - CFTR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202A>G r.(?) p.(Lys68Glu) Unknown - likely benign g.117149125A>G - CFTR(NM_000492.3):c.202A>G (p.K68E), CFTR(NM_000492.4):c.202A>G (p.K68E) - CFTR_001631 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202A>G r.(?) p.(Lys68Glu) Unknown - VUS g.117149125A>G - CFTR(NM_000492.3):c.202A>G (p.K68E), CFTR(NM_000492.4):c.202A>G (p.K68E) - CFTR_001631 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215C>A r.(?) p.(Ala72Asp) Unknown - VUS g.117149138C>A - - - CFTR_001737 - - - rs397508347 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.220C>T r.(?) p.(Arg74Trp) Unknown - pathogenic (!) g.117149143C>T g.117509089C>T R74W - CFTR_000087 see the CFTR2 database for details; varying clinical consequence copy received from the CFTR2 database-87; variable clinical consequences - rs115545701 SUMMARY record - 36/142036 chromosomes CFTR - - - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - - - - - - 1 Johan den Dunnen
+?/. - c.220C>T r.(?) p.(Arg74Trp) Unknown - VUS g.117149143C>T g.117509089C>T - - CFTR_000087 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+/. - c.220C>T r.(?) p.(Arg74Trp) Unknown - pathogenic g.117149143C>T g.117509089C>T CFTR(NM_000492.3):c.220C>T (p.R74W) - CFTR_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220C>T r.(?) p.(Arg74Trp) Parent #1 - VUS g.117149143C>T g.117509089C>T - - CFTR_000087 drug response; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115545701 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+?/. - c.220C>T r.(?) p.(Arg74Trp) Unknown - likely pathogenic g.117149143C>T - - - CFTR_000087 - - - rs115545701 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.220C>T r.(?) p.(Arg74Trp) Unknown - likely pathogenic g.117149143C>T - - - CFTR_000087 - - - rs115545701 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220C>T r.(?) p.(Arg74Trp) Unknown - VUS g.117149143C>T - CFTR(NM_000492.3):c.220C>T (p.R74W) - CFTR_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.220C>T r.(?) p.(Arg74Trp) Unknown - benign g.117149143C>T - - - CFTR_000087 - - - rs115545701 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.221G>A r.(?) p.(Arg74Gln) Unknown - VUS g.117149144G>A g.117509090G>A CFTR(NM_000492.3):c.221G>A (p.R74Q), CFTR(NM_000492.4):c.221G>A (p.(Arg74Gln)) - CFTR_001422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.221G>A r.(?) p.(Arg74Gln) Unknown - pathogenic g.117149144G>A - CFTR(NM_000492.3):c.221G>A (p.R74Q), CFTR(NM_000492.4):c.221G>A (p.(Arg74Gln)) - CFTR_001422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.221G>A r.(?) p.(Arg74Gln) Unknown - benign g.117149144G>A - - - CFTR_001422 - - - rs142540482 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.222_223delinsA r.(?) p.(Arg75AspfsTer16) Unknown - pathogenic g.117149145_117149146delinsA - - - CFTR_001672 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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