| - GRCh37:
- ChrX:154002961
- GRCh38:
- ChrX:154774686
| DKC1 | Q414E | Dyskeratosis congenita, X-linked | Uncertain significance
(Nov 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153995576
- GRCh38:
- ChrX:154767301
| DKC1 | I187L | Dyskeratosis congenita, X-linked, Dyskeratosis congenita | Uncertain significance
(Mar 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:62319021
- GRCh38:
- Chr20:63687668
| RTEL1, RTEL1-TNFRSF6B | P237L, P460L, P484L | Dyskeratosis congenita, X-linked | Pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:154002946
- GRCh38:
- ChrX:154774671
| DKC1 | P409S | Dyskeratosis congenita, X-linked | Uncertain significance
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:154003528
- GRCh38:
- ChrX:154775253
| DKC1 | E440K, E435K | Dyskeratosis congenita, X-linked, Dyskeratosis congenita | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153994214
- GRCh38:
- ChrX:154765939
| DKC1 | H68Q | Dyskeratosis congenita, X-linked | Likely pathogenic
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:154004552-154004554
- GRCh38:
- ChrX:154776277-154776279
| DKC1 | K473del, K478del | not provided, Dyskeratosis congenita, X-linked | Uncertain significance
(Dec 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153993197-153993199
- GRCh38:
- ChrX:154764922-154764924
| DKC1 | K17del | Dyskeratosis congenita, Dyskeratosis congenita, X-linked | Uncertain significance
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153993767
- GRCh38:
- ChrX:154765492
| DKC1 | A45T | Dyskeratosis congenita, X-linked | Likely pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:154002916
- GRCh38:
- ChrX:154774641
| DKC1 | D399H | Dyskeratosis congenita, X-linked | Likely pathogenic
(May 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:62316921-62316998
- GRCh38:
- Chr20:63685568-63685645
| RTEL1, RTEL1-TNFRSF6B | | Inborn genetic diseases, not provided, Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3,
Dyskeratosis congenita, autosomal recessive 5 | Conflicting interpretations of pathogenicity
(Apr 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153994213
- GRCh38:
- ChrX:154765938
| DKC1 | H68R | Dyskeratosis congenita, X-linked | Pathogenic
(Nov 23, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:154002976
- GRCh38:
- ChrX:154774701
| DKC1 | Y419N | Dyskeratosis congenita, X-linked | Likely pathogenic
(Sep 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- ChrX:154001423
- GRCh38:
- ChrX:154773148
| DKC1 | T352A | Dyskeratosis congenita, X-linked | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- ChrX:154001502
- GRCh38:
- ChrX:154773227
| DKC1 | R378Q | not provided, Dyskeratosis congenita, X-linked | Pathogenic/Likely pathogenic
(Feb 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:154005089-154005091
- GRCh38:
- ChrX:154776814-154776816
| DKC1 | K505del, K500del | Dyskeratosis congenita, Inborn genetic diseases, Dyskeratosis congenita, X-linked,
not specified, Dyskeratosis congenita | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:154005088-154005089
- GRCh38:
- ChrX:154776813-154776814
| DKC1 | | Dyskeratosis congenita, Dyskeratosis congenita, Inborn genetic diseases,
not specified, not provided, Dyskeratosis congenita, X-linked
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:154005148
- GRCh38:
- ChrX:154776873
| DKC1 | | not provided, not specified, Dyskeratosis congenita, X-linked
| Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153994596
- GRCh38:
- ChrX:154766321
| DKC1 | | Dyskeratosis congenita, X-linked, not specified, Dyskeratosis congenita
| Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153994224
- GRCh38:
- ChrX:154765949
| DKC1 | L72F | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153993800-153993801
- GRCh38:
- ChrX:154765525-154765526
| DKC1 | L56S | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153999083
- GRCh38:
- ChrX:154770808
| DKC1 | R322Q | Dyskeratosis congenita | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153999079
- GRCh38:
- ChrX:154770804
| DKC1 | L321V | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153999067
- GRCh38:
- ChrX:154770792
| DKC1 | L317F | Inborn genetic diseases, Dyskeratosis congenita | Uncertain significance
(Sep 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153999067
- GRCh38:
- ChrX:154770792
| DKC1 | L317V | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153999059
- GRCh38:
- ChrX:154770784
| DKC1 | K314R | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153993725
- GRCh38:
- ChrX:154765450
| DKC1 | Q31E | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153997581
- GRCh38:
- ChrX:154769306
| DKC1 | S304N | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153997508
- GRCh38:
- ChrX:154769233
| DKC1 | S280R | Inborn genetic diseases, Dyskeratosis congenita, Dyskeratosis congenita,
Dyskeratosis congenita, X-linked | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153991245
- GRCh38:
- ChrX:154762970
| DKC1 | A2V | Dyskeratosis congenita, Dyskeratosis congenita, X-linked | Conflicting interpretations of pathogenicity
(Feb 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153995295
- GRCh38:
- ChrX:154767020
| DKC1 | R158W | not provided | Uncertain significance
(Nov 5, 2012) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153993186
- GRCh38:
- ChrX:154764911
| DKC1 | P10L | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153994214
- GRCh38:
- ChrX:154765939
| DKC1 | H68Q | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153994210
- GRCh38:
- ChrX:154765935
| DKC1 | T67I | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153994206
- GRCh38:
- ChrX:154765931
| DKC1 | T66A | not provided | Pathogenic
(Apr 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153994204
- GRCh38:
- ChrX:154765929
| DKC1 | R65T | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153991099
- GRCh38:
- ChrX:154762824
| DKC1 | | Dyskeratosis congenita, Inborn genetic diseases, not provided,
not specified, Dyskeratosis congenita, Dyskeratosis congenita, X-linked
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153993761
- GRCh38:
- ChrX:154765486
| DKC1 | K43E | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:154002947
- GRCh38:
- ChrX:154774672
| DKC1 | P409L | Inborn genetic diseases, Dyskeratosis congenita | Likely pathogenic
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:154002944
- GRCh38:
- ChrX:154774669
| DKC1 | T408I | not provided, Dyskeratosis congenita | Conflicting interpretations of pathogenicity
(Aug 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153993755
- GRCh38:
- ChrX:154765480
| DKC1 | E41K | Dyskeratosis congenita | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:154002925
- GRCh38:
- ChrX:154774650
| DKC1 | G402R | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:154002914
- GRCh38:
- ChrX:154774639
| DKC1 | L398P | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:153993749
- GRCh38:
- ChrX:154765474
| DKC1 | K39E | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:154002877
- GRCh38:
- ChrX:154774602
| DKC1 | A386T | Dyskeratosis congenita, X-linked | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:154001520
- GRCh38:
- ChrX:154773245
| DKC1 | P384L | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:154001519
- GRCh38:
- ChrX:154773244
| DKC1 | P384S | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:154001444
- GRCh38:
- ChrX:154773169
| DKC1 | D359N | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:154001419
- GRCh38:
- ChrX:154773144
| DKC1 | M350I | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:154001418
- GRCh38:
- ChrX:154773143
| DKC1 | M350T | Dyskeratosis congenita, X-linked | not provided | no assertion provided |
| - GRCh37:
- ChrX:154002981
- GRCh38:
- ChrX:154774706
| DKC1 | | Dyskeratosis congenita, X-linked | Pathogenic
(Aug 15, 2008) | no assertion criteria provided |
| - GRCh37:
- ChrX:154001438
- GRCh38:
- ChrX:154773163
| DKC1 | T357A | Dyskeratosis congenita, Inborn genetic diseases | Uncertain significance
(Jan 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153993725
- GRCh38:
- ChrX:154765450
| DKC1 | Q31K | Dyskeratosis congenita, X-linked | Pathogenic
(May 1, 2005) | no assertion criteria provided |
| - GRCh37:
- ChrX:153993747
- GRCh38:
- ChrX:154765472
| DKC1 | I38T | Dyskeratosis congenita, X-linked | Pathogenic
(Dec 1, 2002) | no assertion criteria provided |
| - GRCh37:
- ChrX:153994588
- GRCh38:
- ChrX:154766313
| DKC1 | S121G | not provided, Dyskeratosis congenita | Conflicting interpretations of pathogenicity
(Sep 2, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- ChrX:153993780
- GRCh38:
- ChrX:154765505
| DKC1 | T49M | not provided, Dyskeratosis congenita | Pathogenic
(Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153991848
- GRCh38:
- ChrX:154763573
| DKC1 | | Dyskeratosis congenita, X-linked | Pathogenic
(Apr 1, 2001) | no assertion criteria provided |
| - GRCh38:
- ChrX:154776372-154778319
| DKC1 | | Dyskeratosis congenita, X-linked | Pathogenic
(Aug 15, 1999) | no assertion criteria provided |
| - GRCh37:
- ChrX:154001427
- GRCh38:
- ChrX:154773152
| DKC1 | A353V | Dyskeratosis congenita, Inborn genetic diseases, Dyskeratosis congenita
| Pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:154002926
- GRCh38:
- ChrX:154774651
| DKC1 | G402E | Dyskeratosis congenita, X-linked | Pathogenic
(May 1, 1998) | no assertion criteria provided |
| - GRCh37:
- ChrX:153994224-153994225
- GRCh38:
- ChrX:154765949-154765950
| DKC1 | L72Y | Dyskeratosis congenita, X-linked | Pathogenic
(May 1, 1998) | no assertion criteria provided |
| - GRCh37:
- ChrX:153993753
- GRCh38:
- ChrX:154765478
| DKC1 | P40R | Dyskeratosis congenita, X-linked | Pathogenic
(May 1, 1998) | no assertion criteria provided |
| - GRCh37:
- ChrX:153993741-153993743
- GRCh38:
- ChrX:154765466-154765468
| DKC1 | L37del | Dyskeratosis congenita | Likely pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- ChrX:153993740
- GRCh38:
- ChrX:154765465
| DKC1 | F36V | Dyskeratosis congenita, X-linked | Pathogenic
(May 1, 1998) | no assertion criteria provided |