| - GRCh37:
- Chr9:21971122
- GRCh38:
- Chr9:21971123
| CDKN2A | T79I, T28I | Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma and neural system tumor syndrome, Melanoma-pancreatic cancer syndrome,
Familial melanoma, Hereditary cancer-predisposing syndrome | Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21994296
- GRCh38:
- Chr9:21994297
| CDKN2A | R12Q | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma, cutaneous malignant, susceptibility to, 2
| Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21974795
- GRCh38:
- Chr9:21974796
| CDKN2A | P11L | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma, cutaneous malignant, susceptibility to, 2,
Melanoma-pancreatic cancer syndrome | Conflicting interpretations of pathogenicity
(Aug 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21974679
- GRCh38:
- Chr9:21974680
| CDKN2A | Q50K | not provided, Melanoma, cutaneous malignant, susceptibility to, 2 | Uncertain significance
(Mar 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21974595
- GRCh38:
- Chr9:21974596
| CDKN2A | S78G | Melanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant, susceptibility to, 2 | Uncertain significance
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:21971160
- GRCh38:
- Chr9:21971161
| CDKN2A | H66Q, R81G, H15Q | Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma-pancreatic cancer syndrome, Melanoma and neural system tumor syndrome,
Familial melanoma, not specified, Hereditary cancer-predisposing syndrome,
not provided | Uncertain significance
(Dec 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971062
- GRCh38:
- Chr9:21971063
| CDKN2A | R99P, R48P | Hereditary cancer-predisposing syndrome, Familial melanoma, Melanoma, cutaneous malignant, susceptibility to, 2,
Melanoma and neural system tumor syndrome, Melanoma-pancreatic cancer syndrome | Likely pathogenic
(Jan 13, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21994171
- GRCh38:
- Chr9:21994172
| CDKN2A | R54S | Familial melanoma, Hereditary cancer-predisposing syndrome, not provided,
Melanoma, cutaneous malignant, susceptibility to, 2 | Uncertain significance
(Apr 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971188
- GRCh38:
- Chr9:21971189
| CDKN2A | A57D, A6D | Melanoma, cutaneous malignant, susceptibility to, 2, Hereditary cancer-predisposing syndrome, Familial melanoma,
not provided | Uncertain significance
(Oct 18, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971064
- GRCh38:
- Chr9:21971065
| CDKN2A | P113S | Melanoma, cutaneous malignant, susceptibility to, 2, Hereditary cancer-predisposing syndrome, Familial melanoma
| Conflicting interpretations of pathogenicity
(Sep 25, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21971198
- GRCh38:
- Chr9:21971199
| CDKN2A | M54L, D68A, M3L | Familial melanoma, Hereditary cancer-predisposing syndrome, not provided,
Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma-pancreatic cancer syndrome | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21971051
- GRCh38:
- Chr9:21971052
| CDKN2A | A117V, R103W, R52W | Hereditary cancer-predisposing syndrome, not provided, Melanoma-pancreatic cancer syndrome,
Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma and neural system tumor syndrome, Familial melanoma
| Uncertain significance
(Feb 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21968346
- GRCh38:
- Chr9:21968347
| CDKN2A | | not provided, Familial melanoma, Hereditary cancer-predisposing syndrome,
Melanoma, cutaneous malignant, susceptibility to, 2 | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21974702
- GRCh38:
- Chr9:21974703
| CDKN2A | N42S | Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma and neural system tumor syndrome, Melanoma-pancreatic cancer syndrome,
Hereditary cancer-predisposing syndrome, Familial melanoma | Uncertain significance
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21994137
- GRCh38:
- Chr9:21994138
| CDKN2A | | Familial melanoma, not provided | Pathogenic
(Aug 14, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971043
- GRCh38:
- Chr9:21971044
| CDKN2A | D105E, R120S, D54E | Hereditary cancer-predisposing syndrome, Familial melanoma, not provided,
Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma-pancreatic cancer syndrome | Conflicting interpretations of pathogenicity
(Jul 12, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21994237
- GRCh38:
- Chr9:21994238
| CDKN2A | G32R | Familial melanoma, Melanoma-pancreatic cancer syndrome, Melanoma and neural system tumor syndrome,
Melanoma, cutaneous malignant, susceptibility to, 2, not provided, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Aug 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971098
- GRCh38:
- Chr9:21971099
| CDKN2A | R87P, R36P | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma, cutaneous malignant, susceptibility to, 2
| Pathogenic/Likely pathogenic
(Jun 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971105
- GRCh38:
- Chr9:21971106
| CDKN2A | A85T, R99H, A34T | Familial melanoma, Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma-pancreatic cancer syndrome,
Melanoma and neural system tumor syndrome, Hereditary cancer-predisposing syndrome | Uncertain significance
(Jul 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21974795-21974818
- GRCh38:
- Chr9:21974796-21974819
| CDKN2A, LOC130001603 | | not provided, Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma-pancreatic cancer syndrome,
Hereditary cancer-predisposing syndrome, not specified, Familial melanoma
| Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21970993
- GRCh38:
- Chr9:21970994
| CDKN2A | G122V, G71V | Familial melanoma, Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome,
not provided, Melanoma and neural system tumor syndrome, Melanoma, cutaneous malignant, susceptibility to, 2,
Melanoma-pancreatic cancer syndrome, not specified | Conflicting interpretations of pathogenicity
(May 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21974860
- GRCh38:
- Chr9:21974861
| CDKN2A, LOC130001603 | | Familial melanoma, Neoplasm of ovary, Melanoma,
Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma and neural system tumor syndrome, Melanoma-pancreatic cancer syndrome,
Hereditary cancer-predisposing syndrome, not provided, Melanoma-pancreatic cancer syndrome
| Pathogenic
(Feb 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21974828
- GRCh38:
- Chr9:21974829
| CDKN2A, LOC130001603 | | Familial melanoma, Melanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant, susceptibility to, 2,
Melanoma and neural system tumor syndrome, Hereditary cancer-predisposing syndrome, not specified,
not provided, Melanoma-pancreatic cancer syndrome | Benign/Likely benign
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21974705
- GRCh38:
- Chr9:21974706
| CDKN2A | P41Q | Familial melanoma, Melanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant, susceptibility to, 2,
Melanoma and neural system tumor syndrome, Hereditary cancer-predisposing syndrome, Ovarian cancer,
not provided, not specified | Conflicting interpretations of pathogenicity
(Jan 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21974794-21974795
- GRCh38:
- Chr9:21974795-21974796
| CDKN2A | | Familial melanoma, Hereditary cancer-predisposing syndrome, not provided,
Melanoma and neural system tumor syndrome, Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma-pancreatic cancer syndrome
| Pathogenic/Likely pathogenic
(Aug 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21970989
- GRCh38:
- Chr9:21970990
| CDKN2A | H123Q, H72Q | Hereditary cancer-predisposing syndrome, Familial melanoma, not specified,
not provided, Melanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant, susceptibility to, 2
| Conflicting interpretations of pathogenicity
(Sep 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21970928
- GRCh38:
- Chr9:21970929
| CDKN2A | R144C, R93C | Melanoma-pancreatic cancer syndrome, Melanoma and neural system tumor syndrome, Melanoma, cutaneous malignant, susceptibility to, 2,
Familial melanoma, Hereditary cancer-predisposing syndrome, not specified,
Melanoma-pancreatic cancer syndrome | Benign/Likely benign
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21970979
- GRCh38:
- Chr9:21970980
| CDKN2A | A127S, A76S | Familial melanoma, Melanoma-pancreatic cancer syndrome, Melanoma and neural system tumor syndrome,
Melanoma, cutaneous malignant, susceptibility to, 2, Hereditary cancer-predisposing syndrome, not specified,
not provided, Melanoma-pancreatic cancer syndrome | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21974640
- GRCh38:
- Chr9:21974641
| CDKN2A | G63R | Familial melanoma, Hereditary cancer-predisposing syndrome, not provided,
not specified, Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma-pancreatic cancer syndrome
| Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21994170
- GRCh38:
- Chr9:21994171
| CDKN2A | R54H | Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:21971092
- GRCh38:
- Chr9:21971093
| CDKN2A | G89D, G38D | Familial melanoma, Hereditary cancer-predisposing syndrome, not provided,
Melanoma-pancreatic cancer syndrome | Conflicting interpretations of pathogenicity
(May 4, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21971191
- GRCh38:
- Chr9:21971192
| CDKN2A | S56I, Q70H, S5I | Familial melanoma, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic/Likely pathogenic
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971018-21971019
- GRCh38:
- Chr9:21971019-21971020
| CDKN2A | P114S, A128L, P63S | Familial melanoma, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Feb 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:21971182
- GRCh38:
- Chr9:21971183
| CDKN2A | V59G, S73R, V8G | Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma and neural system tumor syndrome, Melanoma-pancreatic cancer syndrome,
Hereditary cancer-predisposing syndrome, Familial melanoma, not provided,
Melanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant, susceptibility to, 2 | Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21970994
- GRCh38:
- Chr9:21970995
| CDKN2A | G122R, G71R | Familial melanoma | Uncertain significance
(Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:21970981
- GRCh38:
- Chr9:21970982
| CDKN2A | V126D, V75D | Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma and neural system tumor syndrome, Melanoma-pancreatic cancer syndrome,
Familial melanoma, Hereditary cancer-predisposing syndrome, not provided,
Melanoma-pancreatic cancer syndrome | Pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21974756
- GRCh38:
- Chr9:21974757
| CDKN2A | R24P | Melanoma, cutaneous malignant, susceptibility to, 2, Melanoma and neural system tumor syndrome, Melanoma-pancreatic cancer syndrome,
Familial melanoma, Hereditary cancer-predisposing syndrome, not provided,
Melanoma-pancreatic cancer syndrome | Pathogenic/Likely pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971199
- GRCh38:
- Chr9:21971200
| CDKN2A | M53I, D68H, M2I | Familial melanoma, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21994141-21994142
- GRCh38:
- Chr9:21994142-21994143
| CDKN2A | | Melanoma, cutaneous malignant, susceptibility to, 2 | risk factor
(Jun 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr9:21971057
- GRCh38:
- Chr9:21971058
| CDKN2A | G101W, R115L, G50W | Melanoma, Inborn genetic diseases, Hereditary cancer-predisposing syndrome,
Familial melanoma, not provided, Melanoma-pancreatic cancer syndrome,
Melanoma, cutaneous malignant, susceptibility to, 2 | Pathogenic
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| | CDKN2A | | Melanoma, cutaneous malignant, susceptibility to, 2 | risk factor
(Jul 20, 1995) | no assertion criteria provided |
| - GRCh37:
- Chr9:21971114-21971132
- GRCh38:
- Chr9:21971115-21971133
| CDKN2A | A25fs, A76fs, R90fs | Melanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant, susceptibility to, 2 | Pathogenic; risk factor
(Jun 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr9:21971120
- GRCh38:
- Chr9:21971121
| CDKN2A | P94L, R80*, R29* | Hereditary cancer-predisposing syndrome, Familial melanoma, not provided
| Pathogenic/Likely pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:21971093
- GRCh38:
- Chr9:21971094
| CDKN2A | G103E, G89S, G38S | Hereditary cancer-predisposing syndrome, Familial melanoma | Uncertain significance
(Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |