| | CDKN2B, CDKN2B-AS1 (A129G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CDKN2B, CDKN2B-AS1 (D118A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion (inframe deletion +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Malignant tumor of breast | |
| | | Duplication (3 prime UTR variant) | Malignant tumor of breast | |
| | | Insertion (3 prime UTR variant) | Malignant tumor of breast | |
| | | Insertion (3 prime UTR variant) | Malignant tumor of breast | |
| | CDKN2B, CDKN2B-AS1 +1 more (N41D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CDKN2B, CDKN2B-AS1 +1 more (N44S) | Single nucleotide variant (missense variant) | Acute lymphoid leukemia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CDKN2B, CDKN2B-AS1 +1 more (Q52R) | Single nucleotide variant (missense variant) | not specified | |
| | CDKN2B, CDKN2B-AS1 +1 more (R60C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | CDKN2B, CDKN2B-AS1 (A70fs) | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Familial melanoma | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CDKN2B, CDKN2B-AS1 +1 more (A50V) | Single nucleotide variant (missense variant) | not specified | |
| | CDKN2B, CDKN2B-AS1 (R123W) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CDKN2B, CDKN2B-AS1 +1 more (N41S) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | CDKN2B, CDKN2B-AS1 (T134R) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Syndromic anorectal malformation | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | Distal tetrasomy 15q | |
| | | Copy number gain | Bradycardia | |
| | | Copy number gain | Tetrasomy 9p | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | LOC130001608, CDKN2B +1 more | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | CDKN2B-AS1, ABHD17B +257 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | Familial melanoma | |
| | | Duplication | Familial melanoma | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | CDKN2B-AS1, CDKN2A +1 more | Deletion | Familial melanoma | |
| | | Duplication | Familial melanoma | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Three Vessel Coronary Disease | |
| | | Single nucleotide variant (3 prime UTR variant) | Malignant tumor of breast +1 more | GLikely pathogenic; protective |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | CDKN2B, CDKN2B-AS1 +1 more (A56T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Inversion | Recurrent spontaneous abortion +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus | |
| | CDKN2A, CDKN2A-AS1 +78 more | Duplication | Schizophrenia | |
| | LOC114022702, LOC126860595 +21 more | Copy number loss | Vascular endothelial growth factor (VEGF) inhibitor response | |
| | CDKN2A, CDKN2A-AS1 +17 more | Copy number loss | Vascular endothelial growth factor (VEGF) inhibitor response | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANGPTL2, ANKRD18A +771 more | Copy number gain | See cases | |
| | LINC03041, LINC03106 +898 more | Copy number gain | See cases | |
| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089671, LOC132089672 +1213 more | Copy number gain | See cases | |
| | LINC03026, LINC03041 +1366 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |