| - GRCh37:
- ChrX:14861896
- GRCh38:
- ChrX:14843774
| FANCB | S791R | Fanconi anemia complementation group B | Uncertain significance
(Apr 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14862737
- GRCh38:
- ChrX:14844615
| FANCB | I685V | Fanconi anemia complementation group B | Uncertain significance
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14863281
- GRCh38:
- ChrX:14845159
| FANCB | P542S | Fanconi anemia complementation group B | Uncertain significance
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14861884
- GRCh38:
- ChrX:14843762
| FANCB | | Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia
| Likely benign
(Mar 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14883327
- GRCh38:
- ChrX:14865205
| FANCB | N102K | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14871271
- GRCh38:
- ChrX:14853149
| FANCB | R406W | Fanconi anemia, Fanconi anemia complementation group B | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14863290
- GRCh38:
- ChrX:14845168
| FANCB | Y539H | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, Fanconi anemia
| Uncertain significance
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14871170
- GRCh38:
- ChrX:14853048
| FANCB | S439R | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, Fanconi anemia,
Fanconi anemia complementation group B | Uncertain significance
(Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14868636
- GRCh38:
- ChrX:14850514
| FANCB | S496C | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Uncertain significance
(Nov 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14882723
- GRCh38:
- ChrX:14864601
| FANCB | I304V | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, Fanconi anemia
| Uncertain significance
(Jan 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14876051
- GRCh38:
- ChrX:14857929
| FANCB | D377G | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861700-14861704
- GRCh38:
- ChrX:14843578-14843582
| FANCB | | not provided, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Uncertain significance
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14863138
- GRCh38:
- ChrX:14845016
| FANCB | | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Likely benign
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14871261
- GRCh38:
- ChrX:14853139
| FANCB | R409Q | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, Fanconi anemia
| Uncertain significance
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14863067
- GRCh38:
- ChrX:14844945
| FANCB | R613P | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Uncertain significance
(Oct 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14876063
- GRCh38:
- ChrX:14857941
| FANCB | D373G | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Uncertain significance
(Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14883040
- GRCh38:
- ChrX:14864918
| FANCB | Q198P | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, Fanconi anemia
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14882833
- GRCh38:
- ChrX:14864711
| FANCB | S267L | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, Fanconi anemia
| Uncertain significance
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14862045
- GRCh38:
- ChrX:14843923
| FANCB | C742R | Fanconi anemia complementation group B | Uncertain significance
(Mar 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14868665
- GRCh38:
- ChrX:14850543
| FANCB | S486R | Fanconi anemia complementation group B | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14863186
- GRCh38:
- ChrX:14845064
| FANCB | E573D | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Uncertain significance
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14863299
- GRCh38:
- ChrX:14845177
| FANCB | P536S | Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia
| Uncertain significance
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14891135
- GRCh38:
- ChrX:14873013
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14876002
- GRCh38:
- ChrX:14857880
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia, Fanconi anemia complementation group B
| Conflicting interpretations of pathogenicity
(Sep 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14861896
- GRCh38:
- ChrX:14843774
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14887085
- GRCh38:
- ChrX:14868963
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14883450
- GRCh38:
- ChrX:14865328
| FANCB | | Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia
| Conflicting interpretations of pathogenicity
(Aug 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14883437
- GRCh38:
- ChrX:14865315
| FANCB | T66P | Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia
| Uncertain significance
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14883271
- GRCh38:
- ChrX:14865149
| FANCB | R121H | VACTERL association, X-linked, with or without hydrocephalus, Inborn genetic diseases, Fanconi anemia,
Fanconi anemia complementation group B | Conflicting interpretations of pathogenicity
(Aug 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14882824
- GRCh38:
- ChrX:14864702
| FANCB | N270S | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14863253
- GRCh38:
- ChrX:14845131
| FANCB | R551K | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14862861
- GRCh38:
- ChrX:14844739
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14861538
- GRCh38:
- ChrX:14843416
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14883129
- GRCh38:
- ChrX:14865007
| FANCB | | Fanconi anemia, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B
| Benign/Likely benign
(Sep 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14877341
- GRCh38:
- ChrX:14859219
| FANCB | S356L | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, Inborn genetic diseases,
Fanconi anemia | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14862795
- GRCh38:
- ChrX:14844673
| FANCB | | Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14862803
- GRCh38:
- ChrX:14844681
| FANCB | T663A | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14862017-14862020
- GRCh38:
- ChrX:14843895-14843898
| FANCB | G750fs | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14862094-14862097
- GRCh38:
- ChrX:14843972-14843975
| FANCB | T725fs | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14862624
- GRCh38:
- ChrX:14844502
| FANCB | | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14862731
- GRCh38:
- ChrX:14844609
| FANCB | E687* | Fanconi anemia complementation group B | Uncertain significance
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14862763
- GRCh38:
- ChrX:14844641
| FANCB | L676P | Fanconi anemia complementation group B | Uncertain significance
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14863048-14863049
- GRCh38:
- ChrX:14844926-14844927
| FANCB | R619fs | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14863091-14863094
- GRCh38:
- ChrX:14844969-14844972
| FANCB | R604fs | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14861689-14863408
- GRCh38:
- ChrX:14843567-14845286
| FANCB | S500fs | Fanconi anemia complementation group B | Pathogenic
(Sep 27, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:14877305
- GRCh38:
- ChrX:14859183
| FANCB | S368* | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14877422
- GRCh38:
- ChrX:14859300
| FANCB | L329P | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14882684
- GRCh38:
- ChrX:14864562
| FANCB | Q317* | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14882803-14882804
- GRCh38:
- ChrX:14864681-14864682
| FANCB | C277fs | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14882866-14882878
- GRCh38:
- ChrX:14864744-14864756
| FANCB | L252fs | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14883437-14883438
- GRCh38:
- ChrX:14865315-14865316
| FANCB | T66fs | Fanconi anemia complementation group B | Pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14883505
- GRCh38:
- ChrX:14865383
| FANCB | L43S | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14882681-14882682
- GRCh38:
- ChrX:14864559-14864560
| FANCB | | Fanconi anemia complementation group B | Uncertain significance
(Sep 27, 2019) | no assertion criteria provided |
| - GRCh37:
- ChrX:14861529-14891184
| FANCB | | Fanconi anemia complementation group B | Pathogenic
(Aug 3, 2015) | no assertion criteria provided |
| - GRCh37:
- ChrX:14882800
- GRCh38:
- ChrX:14864678
| FANCB | Q278R | Fanconi anemia complementation group B, not provided, Fanconi anemia
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14882735
- GRCh38:
- ChrX:14864613
| FANCB | V300F | Fanconi anemia, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B
| Uncertain significance
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861927
- GRCh38:
- ChrX:14843805
| FANCB | E781G | not provided, Fanconi anemia, VACTERL association, X-linked, with or without hydrocephalus,
Fanconi anemia complementation group B, not specified | Conflicting interpretations of pathogenicity
(Sep 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14863237
- GRCh38:
- ChrX:14845115
| FANCB | D557fs | Fanconi anemia complementation group B | Pathogenic
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14868681
- GRCh38:
- ChrX:14850559
| FANCB | R481H | Fanconi anemia complementation group B, Fanconi anemia, VACTERL association, X-linked, with or without hydrocephalus
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14868730
- GRCh38:
- ChrX:14850608
| FANCB | S465P | Inborn genetic diseases, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B,
Fanconi anemia | Benign/Likely benign
(Aug 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14883303
- GRCh38:
- ChrX:14865181
| FANCB | | Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia,
Fanconi anemia complementation group B | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861942
- GRCh38:
- ChrX:14843820
| FANCB | A776V | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia, Fanconi anemia complementation group B
| Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14862615
- GRCh38:
- ChrX:14844493
| FANCB | | Fanconi anemia, Fanconi anemia complementation group B | Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14883434
- GRCh38:
- ChrX:14865312
| FANCB | I67V | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Conflicting interpretations of pathogenicity
(Feb 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14882927
- GRCh38:
- ChrX:14864805
| FANCB | V236M | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, not specified,
Fanconi anemia | Benign/Likely benign
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861792
- GRCh38:
- ChrX:14843670
| FANCB | T826M | Fanconi anemia complementation group B, Fanconi anemia, VACTERL association, X-linked, with or without hydrocephalus
| Benign/Likely benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14882981
- GRCh38:
- ChrX:14864859
| FANCB | E218Q | Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia
| Uncertain significance
(Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14863185
- GRCh38:
- ChrX:14845063
| FANCB | C574S | Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus, not specified,
Fanconi anemia | Conflicting interpretations of pathogenicity
(Oct 31, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14891148
- GRCh38:
- ChrX:14873026
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14891146
- GRCh38:
- ChrX:14873024
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14891145
- GRCh38:
- ChrX:14873023
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14887147
- GRCh38:
- ChrX:14869025
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14883564
- GRCh38:
- ChrX:14865442
| FANCB | | not provided, Fanconi anemia, Fanconi anemia complementation group B,
VACTERL association, X-linked, with or without hydrocephalus | Benign/Likely benign
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14883276
- GRCh38:
- ChrX:14865154
| FANCB | E119D | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14883231
- GRCh38:
- ChrX:14865109
| FANCB | | not specified, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia,
History of neurodevelopmental disorder, Fanconi anemia complementation group B | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14882851
- GRCh38:
- ChrX:14864729
| FANCB | R261Q | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14882719
- GRCh38:
- ChrX:14864597
| FANCB | S305Y | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14877469
- GRCh38:
- ChrX:14859347
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia, Fanconi anemia complementation group B
| Conflicting interpretations of pathogenicity
(Mar 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14877330
- GRCh38:
- ChrX:14859208
| FANCB | T360A | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14871222
- GRCh38:
- ChrX:14853100
| FANCB | S422F | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14871177
- GRCh38:
- ChrX:14853055
| FANCB | T437M | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus
| Benign
(Feb 13, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14868629
- GRCh38:
- ChrX:14850507
| FANCB | K498N | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus,
not specified, Fanconi anemia complementation group B, Inborn genetic diseases,
Fanconi anemia | Conflicting interpretations of pathogenicity
(Jul 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14863088
- GRCh38:
- ChrX:14844966
| FANCB | S606N | Fanconi anemia, Fanconi anemia complementation group B, VACTERL association, X-linked, with or without hydrocephalus,
not provided | Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861958
- GRCh38:
- ChrX:14843836
| FANCB | S771G | VACTERL association, X-linked, with or without hydrocephalus, Inborn genetic diseases, Fanconi anemia,
Fanconi anemia complementation group B | Benign/Likely benign
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861858
- GRCh38:
- ChrX:14843736
| FANCB | D804G | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia, Fanconi anemia complementation group B
| Benign
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861675
- GRCh38:
- ChrX:14843553
| FANCB | | not provided, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B
| Benign
(May 20, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861656
- GRCh38:
- ChrX:14843534
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14861623
- GRCh38:
- ChrX:14843501
| FANCB | | VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia complementation group B | Benign
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- ChrX:14876079-14876086
- GRCh38:
- ChrX:14857957-14857964
| FANCB | | not specified, Inborn genetic diseases, VACTERL association, X-linked, with or without hydrocephalus,
Fanconi anemia complementation group B, Fanconi anemia | Benign/Likely benign
(May 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14877404
- GRCh38:
- ChrX:14859282
| FANCB | G335E | Inborn genetic diseases, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia,
not specified, not provided, Fanconi anemia complementation group B
| Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14861817
- GRCh38:
- ChrX:14843695
| FANCB | R818G | not specified, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia,
Fanconi anemia complementation group B | Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14862794
- GRCh38:
- ChrX:14844672
| FANCB | G666S | History of neurodevelopmental disorder, not specified, Fanconi anemia,
Fanconi anemia complementation group B | Conflicting interpretations of pathogenicity
(Jul 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14863136
- GRCh38:
- ChrX:14845014
| FANCB | F590S | History of neurodevelopmental disorder, not specified, not provided,
VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia, Fanconi anemia complementation group B,
Fanconi anemia complementation group A | Conflicting interpretations of pathogenicity
(Jul 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14868752
- GRCh38:
- ChrX:14850630
| FANCB | | not provided, VACTERL association, X-linked, with or without hydrocephalus, Fanconi anemia,
Fanconi anemia complementation group B | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14876041
- GRCh38:
- ChrX:14857919
| FANCB | F380L | Inborn genetic diseases, not specified, VACTERL association, X-linked, with or without hydrocephalus,
Fanconi anemia, Fanconi anemia complementation group B | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:14868806
- GRCh38:
- ChrX:14850684
| FANCB | | not specified, not provided, VACTERL association, X-linked, with or without hydrocephalus,
Fanconi anemia, Fanconi anemia complementation group B | Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:14863047-14863048
- GRCh38:
- ChrX:14844925-14844926
| FANCB | R619fs | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14862640
- GRCh38:
- ChrX:14844518
| FANCB | L717* | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:14868622
- GRCh38:
- ChrX:14850500
| FANCB | | Fanconi anemia complementation group B | Pathogenic
(Feb 28, 2020) | no assertion criteria provided |
| | FANCB | | Fanconi anemia complementation group B | Pathogenic
(Nov 1, 2004) | no assertion criteria provided |