| - GRCh37:
- Chr7:117144360
- GRCh38:
- Chr7:117504306
| CFTR | D36A | Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:117120192
- GRCh38:
- Chr7:117480138
| CFTR | L15H | Congenital bilateral aplasia of vas deferens from CFTR mutation | Likely pathogenic
(Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117188854
- GRCh38:
- Chr7:117548800
| CFTR, CFTR-AS1 | A457T | Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117232046
- GRCh38:
- Chr7:117591992
| CFTR | H609Y | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation | Likely pathogenic
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117171137
- GRCh38:
- Chr7:117531083
| CFTR | R153K | Cystic fibrosis, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, Spermatogenic failure, Y-linked, 2
| Conflicting interpretations of pathogenicity
(Sep 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117232334
- GRCh38:
- Chr7:117592280
| CFTR | I705V | Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis, Hereditary pancreatitis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis | Uncertain significance
(Feb 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117282620
- Chr7:117282622
- GRCh38:
- Chr7:117642566
- Chr7:117642568
| CFTR, CFTR | W1282*, R1283M | Cystic fibrosis | Pathogenic
(Jan 10, 2020) | reviewed by expert panel |
| - GRCh37:
- Chr7:117175368
- GRCh38:
- Chr7:117535314
| CFTR | W216R | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117149107
- GRCh38:
- Chr7:117509053
| CFTR, LOC113664106 | A62T | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117175404
- GRCh38:
- Chr7:117535350
| CFTR | G228C | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117175315
- GRCh38:
- Chr7:117535261
| CFTR | A198V | not specified, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Uncertain significance
(Jan 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117171115
- GRCh38:
- Chr7:117531061
| CFTR | H146Y | CFTR-related condition, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Uncertain significance
(Aug 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117188682
- GRCh38:
- Chr7:117548628
| CFTR, CFTR-AS1 | | not specified, not provided, Cystic fibrosis,
Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation | Benign/Likely benign
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117174305
- GRCh38:
- Chr7:117534251
| CFTR | | Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance
(Sep 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117171068
- GRCh38:
- Chr7:117531014
| CFTR | L130P | Congenital bilateral aplasia of vas deferens from CFTR mutation, not provided | Uncertain significance
(Sep 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117282582
- Chr7:117149143
- GRCh38:
- Chr7:117642528
- Chr7:117509089
| CFTR, CFTR | D1270N, R74W | not specified | Uncertain significance
(Oct 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117144323
- GRCh38:
- Chr7:117504269
| CFTR | L24V | Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation, Hereditary pancreatitis,
Cystic fibrosis, not provided, Cystic fibrosis
| Uncertain significance
(Sep 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117188704
- GRCh38:
- Chr7:117548650
| CFTR, CFTR-AS1 | E407K | Cystic fibrosis, Cystic fibrosis, Hereditary pancreatitis,
Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation, not specified
| Uncertain significance
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117230454
- Chr7:117232223
- GRCh38:
- Chr7:117590400
- Chr7:117592169
| CFTR, CFTR | G576A, R668C | not specified | Likely benign
(Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117307644
- GRCh38:
- Chr7:117667590
| CFTR | | Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, CFTR-related disorders | Uncertain significance
(Sep 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117227810
- GRCh38:
- Chr7:117587756
| CFTR, LOC111674475 | | CFTR-related disorders, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Conflicting interpretations of pathogenicity
(May 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117230454
- Chr7:117232223
- Chr7:117188812
- GRCh38:
- Chr7:117590400
- Chr7:117592169
- Chr7:117548758
| CFTR, CFTR, CFTR, CFTR-AS1 | G576A, R668C, D443Y | Cystic fibrosis | Pathogenic
(Feb 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117251798
- GRCh38:
- Chr7:117611744
| LOC111674472, CFTR | M1101I | Cystic fibrosis, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis | Uncertain significance
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117292956
- GRCh38:
- Chr7:117652902
| CFTR | D1312Y | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1,
Hereditary pancreatitis, Cystic fibrosis | Uncertain significance
(Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117232374
- GRCh38:
- Chr7:117592320
| CFTR | P718R | Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis,
Hereditary pancreatitis, not specified, Cystic fibrosis
| Uncertain significance
(Mar 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117188680
- GRCh38:
- Chr7:117548626
| CFTR, CFTR-AS1 | | Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis,
Hereditary pancreatitis, Cystic fibrosis | Likely benign
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117188660-117188661
- Chr7:117188683-117188686
- GRCh38:
- Chr7:117548606-117548607
- Chr7:117548629-117548632
| CFTR, CFTR-AS1, CFTR, CFTR-AS1 | | Cystic fibrosis | Pathogenic
(Jan 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117282570
- GRCh38:
- Chr7:117642516
| CFTR | E1266* | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Pathogenic/Likely pathogenic
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117232140-117232141
- GRCh38:
- Chr7:117592086-117592087
| CFTR | S641fs | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Pathogenic/Likely pathogenic
(Dec 7, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117149176
- GRCh38:
- Chr7:117509122
| CFTR | G85* | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Pathogenic/Likely pathogenic
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117149098-117149099
- GRCh38:
- Chr7:117509044-117509045
| LOC113664106, CFTR | E60fs | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:117144380
- GRCh38:
- Chr7:117504326
| CFTR | V43I | CFTR-related disorders, not specified, Bronchiectasis with or without elevated sweat chloride 1,
Hereditary pancreatitis, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis | Uncertain significance
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117243612
- GRCh38:
- Chr7:117603558
| CFTR | S895T | not specified, not provided, CFTR-related disorders,
Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis, Hereditary pancreatitis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis | Uncertain significance
(Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117251814
- GRCh38:
- Chr7:117611760
| LOC111674472, CFTR | F1107L | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, not provided,
Cystic fibrosis | Conflicting interpretations of pathogenicity
(Aug 27, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117199643
- GRCh38:
- Chr7:117559589
| CFTR-AS1, CFTR | | Congenital bilateral aplasia of vas deferens from CFTR mutation, not provided, Cystic fibrosis
| Conflicting interpretations of pathogenicity
(May 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:19023747-19024342
- GRCh38:
- ChrX:19005629-19006224
| ADGRG2 | | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Jul 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19031890
- GRCh38:
- ChrX:19013772
| ADGRG2 | P300fs, P308fs, P314fs, P316fs, P322fs, P324fs, P335fs, P338fs | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19026204
- GRCh38:
- ChrX:19008086
| ADGRG2 | G449fs, G457fs, G463fs, G465fs, G471fs, G473fs, G484fs, G487fs | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19054071
- GRCh38:
- ChrX:19035953
| ADGRG2 | S60*, S68*, S76*, S81*, S84* | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19021097-19021098
- GRCh38:
- ChrX:19002979-19002980
| ADGRG2 | F662fs, F684fs, F676fs, F670fs, F678fs, F700fs, F686fs, F697fs | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:19017255
- GRCh38:
- ChrX:18999137
| ADGRG2 | R787*, R795*, R801*, R803*, R809*, R811*, R822*, R825* | Congenital bilateral aplasia of vas deferens from CFTR mutation | Pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:117235055-117235056
- GRCh38:
- Chr7:117595001-117595002
| CFTR | V855I | Cystic fibrosis, not provided, Cystic fibrosis,
Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation
| Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117199645-117199647
- Chr7:117250664
- GRCh38:
- Chr7:117559591-117559593
- Chr7:117610610
| CFTR, CFTR-AS1, CFTR, LOC111674472 | | Cystic fibrosis | Pathogenic
(Mar 11, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:117199522
- Chr7:117251704
- GRCh38:
- Chr7:117559468
- Chr7:117611650
| CFTR, CFTR-AS1, CFTR, LOC111674472 | S466*, R1070Q | Cystic fibrosis | Pathogenic
(Mar 11, 2019) | reviewed by expert panel |
| - GRCh37:
- Chr7:117174330
- GRCh38:
- Chr7:117534276
| CFTR | T164A | not specified, CFTR-related disorders, not provided,
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis,
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117230451
- GRCh38:
- Chr7:117590397
| CFTR | F575Y | Congenital bilateral aplasia of vas deferens from CFTR mutation, not provided, Cystic fibrosis
| Conflicting interpretations of pathogenicity
(Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117250691
- GRCh38:
- Chr7:117610637
| CFTR, LOC111674472 | T1036I | Cystic fibrosis, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
| Conflicting interpretations of pathogenicity
(May 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117188786
- GRCh38:
- Chr7:117548732
| CFTR, CFTR-AS1 | S434* | Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, Cystic fibrosis
| Pathogenic
(Jun 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117251789
- GRCh38:
- Chr7:117611735
| CFTR, LOC111674472 | W1098C | Cystic fibrosis | Pathogenic
(Aug 31, 2018) | reviewed by expert panel |
| - GRCh37:
- Chr7:117267817
- GRCh38:
- Chr7:117627763
| CFTR | G1237D | Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, Hereditary pancreatitis,
Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis, not provided
| Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117227824
- GRCh38:
- Chr7:117587770
| CFTR, LOC111674475 | I539T | not provided, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis,
Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis,
not specified | Uncertain significance
(Aug 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117243784
- GRCh38:
- Chr7:117603730
| CFTR | M952I | Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, not provided
| Conflicting interpretations of pathogenicity
(Jul 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117171255
- GRCh38:
- Chr7:117531201
| CFTR | | not provided, Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1,
Hereditary pancreatitis, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
| Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117144390
- GRCh38:
- Chr7:117504336
| CFTR | A46V | not provided, not specified, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation | Conflicting interpretations of pathogenicity
(Aug 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117232575
- GRCh38:
- Chr7:117592521
| CFTR | R785Q | not specified, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis
| Uncertain significance
(Apr 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117180209
- GRCh38:
- Chr7:117540155
| CFTR | A309T | not provided, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis, Hereditary pancreatitis, Cystic fibrosis,
not specified | Uncertain significance
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117242887
- GRCh38:
- Chr7:117602833
| CFTR | A876V | not specified, Hereditary pancreatitis, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis
| Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117307016
- GRCh38:
- Chr7:117666962
| CFTR, LOC111674477 | E1433* | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Pathogenic/Likely pathogenic
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117242901-117242902
- GRCh38:
- Chr7:117602847-117602848
| CFTR | W882fs | Cystic fibrosis, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
| Pathogenic/Likely pathogenic
(Mar 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117230495
- GRCh38:
- Chr7:117590441
| CFTR | | not provided, Hereditary pancreatitis, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis
| Pathogenic/Likely pathogenic
(Jun 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117243750
- GRCh38:
- Chr7:117603696
| CFTR | L941fs | Cystic fibrosis | Pathogenic
(Sep 24, 2021) | reviewed by expert panel |
| - GRCh37:
- Chr7:117267592
- GRCh38:
- Chr7:117627538
| CFTR | R1162Q | not provided, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis, Cystic fibrosis,
not specified | Uncertain significance
(Apr 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117180153
- GRCh38:
- Chr7:117540099
| CFTR | | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Pathogenic/Likely pathogenic
(Nov 8, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117144345
- GRCh38:
- Chr7:117504291
| CFTR | R31H | not specified, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis,
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis,
Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance
(May 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117306960
- GRCh38:
- Chr7:117666906
| CFTR, LOC111674477 | | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Pathogenic/Likely pathogenic
(Sep 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117199705
- GRCh38:
- Chr7:117559651
| CFTR-AS1, CFTR | E527G | not specified, Cystic fibrosis, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation | Conflicting interpretations of pathogenicity
(Jan 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117292899
- GRCh38:
- Chr7:117652845
| CFTR | V1293I | not specified, Cystic fibrosis, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1
| Uncertain significance
(Oct 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117254679
- GRCh38:
- Chr7:117614625
| CFTR | G1127E | Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis, Hereditary pancreatitis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, not specified
| Uncertain significance
(Jun 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117232171
- GRCh38:
- Chr7:117592117
| CFTR | F650L | Cystic fibrosis, Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1,
Hereditary pancreatitis, Congenital bilateral aplasia of vas deferens from CFTR mutation | Uncertain significance
(Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117304809
- GRCh38:
- Chr7:117664755
| CFTR | C1344S | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1,
Hereditary pancreatitis, Cystic fibrosis, not specified
| Uncertain significance
(May 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117254773
- GRCh38:
- Chr7:117614719
| CFTR | | Cystic fibrosis, not specified, Cystic fibrosis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1
| Uncertain significance
(Oct 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117199707
- GRCh38:
- Chr7:117559653
| CFTR, CFTR-AS1 | E528K | not provided, Hereditary pancreatitis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1, CFTR-related condition,
Cystic fibrosis | Uncertain significance
(Aug 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117171095
- GRCh38:
- Chr7:117531041
| CFTR | H139P | not provided, Cystic fibrosis, Hereditary pancreatitis,
Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117267624
- GRCh38:
- Chr7:117627570
| CFTR | G1173S | Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1,
Hereditary pancreatitis, not provided, Cystic fibrosis
| Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117174411
- GRCh38:
- Chr7:117534357
| CFTR | F191V | Cystic fibrosis | Pathogenic
(Jan 10, 2020) | reviewed by expert panel |
| - GRCh37:
- Chr7:117120189
- GRCh38:
- Chr7:117480135
| CFTR | K14I | not provided, not specified, Cystic fibrosis,
Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis | Uncertain significance
(Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117251769
- GRCh38:
- Chr7:117611715
| CFTR, LOC111674472 | Y1092H | not specified, CFTR-related condition, not provided,
Cystic fibrosis, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis | Uncertain significance
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117120179
- GRCh38:
- Chr7:117480125
| CFTR | V11I | not specified, not provided, Cystic fibrosis,
Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Hereditary pancreatitis, Cystic fibrosis | Uncertain significance
(Aug 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117251646
- GRCh38:
- Chr7:117611592
| CFTR, LOC111674472 | I1051V | not specified, CFTR-related disorders, Cystic fibrosis,
Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis | Uncertain significance
(Mar 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117246795
- GRCh38:
- Chr7:117606741
| CFTR | F992L | not provided, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Hereditary pancreatitis, Cystic fibrosis | Uncertain significance
(Sep 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117246757
- GRCh38:
- Chr7:117606703
| CFTR | I980V | not provided, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Hereditary pancreatitis, Cystic fibrosis | Uncertain significance
(Dec 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117243734
- GRCh38:
- Chr7:117603680
| CFTR | P936T | not provided, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Hereditary pancreatitis, Cystic fibrosis | Uncertain significance
(Oct 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117232155
- GRCh38:
- Chr7:117592101
| CFTR | M645K | not specified, Cystic fibrosis, Hereditary pancreatitis,
Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117199519
- GRCh38:
- Chr7:117559465
| CFTR, CFTR-AS1 | T465N | not provided, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis | Conflicting interpretations of pathogenicity
(May 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117182140
- GRCh38:
- Chr7:117542086
| CFTR | N396T | not provided, Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Hereditary pancreatitis, Cystic fibrosis
| Uncertain significance
(Sep 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117182116
- GRCh38:
- Chr7:117542062
| CFTR | T388M | not specified, CFTR-related disorders, not provided,
Cystic fibrosis, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Hereditary pancreatitis, Cystic fibrosis
| Uncertain significance
(Jun 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117182094
- GRCh38:
- Chr7:117542040
| CFTR | K381* | Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, Cystic fibrosis
| Pathogenic/Likely pathogenic
(Oct 2, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117182104-117182105
- GRCh38:
- Chr7:117542050-117542051
| CFTR | N386fs | Cystic fibrosis | Pathogenic
(Mar 17, 2017) | reviewed by expert panel |
| - GRCh37:
- Chr7:117174348
- GRCh38:
- Chr7:117534294
| CFTR | R170C | Cystic fibrosis, Hereditary pancreatitis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Bronchiectasis with or without elevated sweat chloride 1, not provided, Hereditary pancreatitis,
not specified, Cystic fibrosis | Uncertain significance
(Jul 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117243740
- GRCh38:
- Chr7:117603686
| CFTR | V938L | Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis,
Hereditary pancreatitis, Cystic fibrosis, not provided
| Uncertain significance
(Apr 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117232671
- GRCh38:
- Chr7:117592617
| CFTR | G817V | not specified, Cystic fibrosis, Hereditary pancreatitis,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis
| Uncertain significance
(Jul 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117267757
- GRCh38:
- Chr7:117627703
| CFTR | A1217V | Bronchiectasis with or without elevated sweat chloride 1, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Hereditary pancreatitis, not specified, not provided,
Cystic fibrosis | Uncertain significance
(Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117199562
- GRCh38:
- Chr7:117559508
| CFTR, CFTR-AS1 | E479D | not specified, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis, CFTR-related condition,
not provided, Cystic fibrosis | Uncertain significance
(Aug 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117243733-117243738
- GRCh38:
- Chr7:117603679-117603684
| CFTR | | not provided, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis,
Cystic fibrosis | Pathogenic/Likely pathogenic
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117199593
- GRCh38:
- Chr7:117559539
| CFTR, CFTR-AS1 | F490fs | not provided, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis | Pathogenic/Likely pathogenic
(Aug 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117227896
- GRCh38:
- Chr7:117587842
| CFTR, LOC111674475 | | not provided, Congenital bilateral aplasia of vas deferens from CFTR mutation, not specified,
Cystic fibrosis | Conflicting interpretations of pathogenicity
(Sep 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:117251751
- GRCh38:
- Chr7:117611697
| LOC111674472, CFTR | T1086S | not provided, Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1,
Congenital bilateral aplasia of vas deferens from CFTR mutation, Hereditary pancreatitis, Cystic fibrosis
| Uncertain significance
(Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117171044
- GRCh38:
- Chr7:117530990
| CFTR | Y122C | not specified, Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis,
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis
| Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117235045
- GRCh38:
- Chr7:117594991
| CFTR | R851Q | not specified, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis, Hereditary pancreatitis, Cystic fibrosis,
CFTR-related condition, not provided | Uncertain significance
(May 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:117175360
- GRCh38:
- Chr7:117535306
| CFTR | G213E | not specified, not provided, Bronchiectasis with or without elevated sweat chloride 1,
Hereditary pancreatitis, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation,
Cystic fibrosis | Uncertain significance
(Jun 8, 2022) | criteria provided, multiple submitters, no conflicts |