| - GRCh37:
- Chr1:55505552-55505553
- GRCh38:
- Chr1:55039879-55039880
| PCSK9 | L15fs | Hypercholesterolemia, familial, 1 | Pathogenic
(Mar 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55505586
- GRCh38:
- Chr1:55039913
| PCSK9 | A26T | Hypercholesterolemia, familial, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55505650
- GRCh38:
- Chr1:55039977
| PCSK9 | S47C | Hypercholesterolemia, familial, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55505722
- GRCh38:
- Chr1:55040049
| PCSK9 | | Hypocholesterolemia | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55509556
- GRCh38:
- Chr1:55043883
| PCSK9 | K83T | Hypercholesterolemia, familial, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55509631
- GRCh38:
- Chr1:55043958
| PCSK9 | L108P | Hypercholesterolemia, familial, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55509689
- GRCh38:
- Chr1:55044016
| PCSK9 | S168R, S127R, S2R | Hypercholesterolemia, autosomal dominant, 3 | Pathogenic
(Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55509689
- GRCh38:
- Chr1:55044016
| PCSK9 | | Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3 | Pathogenic/Likely pathogenic
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55509694
- GRCh38:
- Chr1:55044021
| PCSK9 | D129G | Hypercholesterolemia, autosomal dominant, 3, Hypercholesterolemia, familial, 1 | Pathogenic/Likely pathogenic
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55518073
- GRCh38:
- Chr1:55052400
| PCSK9 | F257L, F152L, F91L, F197L | Hypercholesterolemia, autosomal dominant, 3 | Pathogenic
(Feb 12, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr1:55518079
- GRCh38:
- Chr1:55052406
| PCSK9 | R218G, R199G, R259G, R93G, R154G | Hypercholesterolemia, autosomal dominant, 3 | Likely pathogenic
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55518080
- GRCh38:
- Chr1:55052407
| PCSK9 | R218T, R154T, R93T, R199T, R259T | Hypercholesterolemia, autosomal dominant, 3 | Likely pathogenic
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55523068
- GRCh38:
- Chr1:55057395
| PCSK9 | N354I, N355I, N229I, N290I, N335I, N395I | Hypercholesterolemia, familial, 1 | Likely pathogenic
(Mar 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55523127
- GRCh38:
- Chr1:55057454
| PCSK9 | D374H, D249H, D355H, D415H, D310H, D375H | Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3 | Pathogenic
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55523127
- GRCh38:
- Chr1:55057454
| PCSK9 | D249Y, D355Y, D375Y, D415Y, D310Y | Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3 | Pathogenic/Likely pathogenic
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55523181
- GRCh38:
- Chr1:55057508
| PCSK9 | V392M, V267M, V328M, V373M, V433M, V393M | Hypercholesterolemia, familial, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55524211
- GRCh38:
- Chr1:55058538
| PCSK9 | S340W, S401W, S407W, S446W, S465W, S466W, S506W | Hypercholesterolemia, autosomal dominant, 3 | Likely pathogenic
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55524219
- GRCh38:
- Chr1:55058546
| PCSK9 | T468A, T343A, T449A, T410A, T509A, T469A, T404A | Hypercholesterolemia, familial, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55524228
- GRCh38:
- Chr1:55058555
| PCSK9 | A471S, A407S, A413S, A346S, A512S, A452S, A472S | Hypercholesterolemia, familial, 1 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55529084
- GRCh38:
- Chr1:55063411
| PCSK9 | S636R, S578R, S617R, S511R, S572R, S650R, S677R, S469R, S637R | Hypercholesterolemia, autosomal dominant, 3 | Likely pathogenic
(May 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55529183
- GRCh38:
- Chr1:55063510
| PCSK9 | E669Q, E611Q, E683Q, E650Q, E544Q, E605Q, E502Q, E670Q, E710Q | Hypercholesterolemia, familial, 1 | Pathogenic | no assertion criteria provided |