| - GRCh37:
- ChrX:153661279
- GRCh38:
- ChrX:154432933
| ATP6AP1 | S187F | Immunodeficiency 47 | Uncertain significance
(Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153660633
- GRCh38:
- ChrX:154432287
| ATP6AP1 | S129P | Immunodeficiency 47 | Uncertain significance
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153660778
- GRCh38:
- ChrX:154432432
| ATP6AP1 | L177P | Immunodeficiency 47 | Likely pathogenic
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153660763
- GRCh38:
- ChrX:154432417
| ATP6AP1 | S172T | Immunodeficiency 47 | Uncertain significance
(Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153660188
- GRCh38:
- ChrX:154431842
| ATP6AP1 | D101N | Immunodeficiency 47 | Uncertain significance
(Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153663542
- GRCh38:
- ChrX:154435196
| ATP6AP1 | | Immunodeficiency 47, not provided | Conflicting interpretations of pathogenicity
(Dec 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153657448
- GRCh38:
- ChrX:154429102
| ATP6AP1 | | Immunodeficiency 47, not provided | Conflicting interpretations of pathogenicity
(Mar 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153657460-153657462
- GRCh38:
- ChrX:154429114-154429116
| ATP6AP1 | Y77del | Immunodeficiency 47 | Likely pathogenic
(Apr 2, 2022) | criteria provided, single submitter |
| - GRCh38:
- ChrX:153427468-156004919
| CLIC2, CMC4, SPRY3, SRPK3, TAFAZZIN, TEX28, TKTL1, TMEM187, F8A1, F8A2, F8A3, FAM223A, FAM223B, FAM3A, FAM50A, CTAG2, SSR4, VBP1, H2AB1, CTAG1A, ABCD1, ARHGAP4, ATP2B3, ATP6AP1, ATP6AP1-DT, CTAG1B, AVPR2, BCAP31, BGN, BRCC3, CCNQ, DKC1, DNASE1L1, DUSP9, EMD, F8, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB2, H2AB3, HAUS7, HCFC1, HCFC1-AS1, IDH3G, IKBKG, IL9R, IRAK1, L1CAM, L1CAM-AS1, LAGE3, LOC101927830, LOC105373383, LOC106146143, LOC106146144, LOC106146150, LOC106146151, LOC106146152, LOC107181288, LOC107522039, LOC107838685, LOC107988021, LOC107988022, LOC107988024, LOC107988025, LOC107988032, LOC107988033, LOC108281126, LOC111365170, LOC111589209, LOC113875014, LOC113875015, LOC113875016, LOC116309161, LOC116309162, LOC121627985, LOC121627986, LOC121853071, LOC121853072, LOC125467793, LOC125467794, LOC125467795, LOC126863349, MECP2, MIR1184-1, MIR1184-2, MIR1184-3, MIR3202-1, MIR3202-2, MIR664B, MIR6858, MIR718, MPP1, MTCP1, NAA10, OPN1LW, OPN1MW, OPN1MW2, OPN1MW3, OPSIN-LCR, PDZD4, PLXNA3, PLXNB3, PLXNB3-AS1, PNCK, RAB39B, RENBP, SNORA70, RPL10, SLC10A3, SLC6A8, SMIM9, SNORA36A, SNORA56, TMLHE, TMLHE-AS1, TREX2, UBL4A, VAMP7 | | Decreased circulating antibody level, Splenomegaly, Ectodermal dysplasia and immunodeficiency 1,
Immunodeficiency 33, Immunodeficiency 47, Incontinentia pigmenti syndrome
| Pathogenic
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153663679
- GRCh38:
- ChrX:154435333
| ATP6AP1 | R344H | Inborn genetic diseases, Immunodeficiency 47, not provided
| Uncertain significance
(Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153662031
- GRCh38:
- ChrX:154433685
| ATP6AP1 | Y217N | Immunodeficiency 47 | Pathogenic
(Jul 27, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:153662056
- GRCh38:
- ChrX:154433710
| ATP6AP1 | R225H | Immunodeficiency 47 | Uncertain significance
(Feb 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153657453
- GRCh38:
- ChrX:154429107
| ATP6AP1 | L74P | Immunodeficiency 47 | Pathogenic
(Aug 29, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:153663493
- GRCh38:
- ChrX:154435147
| ATP6AP1 | L311Q | Immunodeficiency 47, ATP6AP1-related disorders | Conflicting interpretations of pathogenicity
(May 28, 2020) | no assertion criteria provided |
| - GRCh37:
- ChrX:153660041
- GRCh38:
- ChrX:154431695
| ATP6AP1 | | not provided, Immunodeficiency 47 | Benign
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153660790
- GRCh38:
- ChrX:154432444
| ATP6AP1 | L181R | Immunodeficiency 47, not provided | Conflicting interpretations of pathogenicity
(Aug 12, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153663499
- GRCh38:
- ChrX:154435153
| ATP6AP1 | Y313C | not provided | Pathogenic
(Jul 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153663684
- GRCh38:
- ChrX:154435338
| ATP6AP1 | E346K | Immunodeficiency 47, not provided | Pathogenic/Likely pathogenic
(Dec 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153660679
- GRCh38:
- ChrX:154432333
| ATP6AP1 | L144P | Immunodeficiency 47 | Pathogenic
(Feb 13, 2017) | no assertion criteria provided |
| - GRCh37:
- ChrX:153664108
- GRCh38:
- ChrX:154435762
| ATP6AP1 | M428I | Immunodeficiency 47 | Pathogenic
(Feb 13, 2017) | no assertion criteria provided |