The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Keyword Search Parameters
Keyword(s): LDLR
In any of these fields: Gene
Uuid: ffcac230-1fce-4800-8865-926e499ad6fc
NM_000527.5:c.970G>A
NC_000019.10:g.11110681G>A
CM000681.2:g.11110681G>A
NC_000019.9:g.11221357G>A
CM000681.1:g.11221357G>A
NC_000019.8:g.11082357G>A
NG_009060.1:g.26301G>A
NC_000019.10:g.11110681G>A
CM000681.2:g.11110681G>A
NC_000019.9:g.11221357G>A
CM000681.1:g.11221357G>A
NC_000019.8:g.11082357G>A
NG_009060.1:g.26301G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Benign
Evidence Links 0
Uuid: be6aeb00-7d31-427c-a316-d2d916965de3
NM_000527.5:c.1060+10G>C
NC_000019.10:g.11110781G>C
CM000681.2:g.11110781G>C
NC_000019.9:g.11221457G>C
CM000681.1:g.11221457G>C
NC_000019.8:g.11082457G>C
NG_009060.1:g.26401G>C
NC_000019.10:g.11110781G>C
CM000681.2:g.11110781G>C
NC_000019.9:g.11221457G>C
CM000681.1:g.11221457G>C
NC_000019.8:g.11082457G>C
NG_009060.1:g.26401G>C
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Benign
Evidence Links 0
Uuid: 2cfe8966-fc81-480a-a6f6-acad940dfe1d
NM_000527.4:c.2389+8C>T
NC_000019.10:g.11128093C>T
CM000681.2:g.11128093C>T
NC_000019.9:g.11238769C>T
CM000681.1:g.11238769C>T
NC_000019.8:g.11099769C>T
NG_009060.1:g.43713C>T
NC_000019.10:g.11128093C>T
CM000681.2:g.11128093C>T
NC_000019.9:g.11238769C>T
CM000681.1:g.11238769C>T
NC_000019.8:g.11099769C>T
NG_009060.1:g.43713C>T
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: fba360f5-6b2f-4315-aa0e-fec7b1bab020
NM_000527.4:c.1323C>T
NC_000019.10:g.11113414C>T
CM000681.2:g.11113414C>T
NC_000019.9:g.11224090C>T
CM000681.1:g.11224090C>T
NC_000019.8:g.11085090C>T
NG_009060.1:g.29034C>T
NC_000019.10:g.11113414C>T
CM000681.2:g.11113414C>T
NC_000019.9:g.11224090C>T
CM000681.1:g.11224090C>T
NC_000019.8:g.11085090C>T
NG_009060.1:g.29034C>T
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Benign
Evidence Links 0
Uuid: 7235c54a-6e6c-4107-b0ea-465ee2900bc7
NM_000527.5:c.1171G>A
NC_000019.10:g.11111624G>A
CM000681.2:g.11111624G>A
NC_000019.9:g.11222300G>A
CM000681.1:g.11222300G>A
NC_000019.8:g.11083300G>A
NG_009060.1:g.27244G>A
NC_000019.10:g.11111624G>A
CM000681.2:g.11111624G>A
NC_000019.9:g.11222300G>A
CM000681.1:g.11222300G>A
NC_000019.8:g.11083300G>A
NG_009060.1:g.27244G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Benign
Evidence Links 0
Uuid: edbf1491-cba1-4dae-b1fd-1312c3a2fb87
NM_000527.5:c.185C>T
NC_000019.10:g.11100340C>T
CM000681.2:g.11100340C>T
NC_000019.9:g.11211016C>T
CM000681.1:g.11211016C>T
NC_000019.8:g.11072016C>T
NG_009060.1:g.15960C>T
NC_000019.10:g.11100340C>T
CM000681.2:g.11100340C>T
NC_000019.9:g.11211016C>T
CM000681.1:g.11211016C>T
NC_000019.8:g.11072016C>T
NG_009060.1:g.15960C>T
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: f6dd9146-59ca-44c4-ac27-d16f23cce231
NM_000527.4:c.185C>G
NC_000019.10:g.11100340C>G
CM000681.2:g.11100340C>G
NC_000019.9:g.11211016C>G
CM000681.1:g.11211016C>G
NC_000019.8:g.11072016C>G
NG_009060.1:g.15960C>G
NC_000019.10:g.11100340C>G
CM000681.2:g.11100340C>G
NC_000019.9:g.11211016C>G
CM000681.1:g.11211016C>G
NC_000019.8:g.11072016C>G
NG_009060.1:g.15960C>G
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: b69dff69-840b-4103-bcdf-832247919271
NM_000527.5:c.2575G>A
NC_000019.10:g.11131308G>A
CM000681.2:g.11131308G>A
NC_000019.9:g.11241984G>A
CM000681.1:g.11241984G>A
NC_000019.8:g.11102984G>A
NG_009060.1:g.46928G>A
NC_000019.10:g.11131308G>A
CM000681.2:g.11131308G>A
NC_000019.9:g.11241984G>A
CM000681.1:g.11241984G>A
NC_000019.8:g.11102984G>A
NG_009060.1:g.46928G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Likely Benign
Evidence Links 1
Uuid: 0c970ab1-3278-4f04-af3a-5b8859e99901
NM_000527.5:c.2546C>A
NC_000019.10:g.11129669C>A
CM000681.2:g.11129669C>A
NC_000019.9:g.11240345C>A
CM000681.1:g.11240345C>A
NC_000019.8:g.11101345C>A
NG_009060.1:g.45289C>A
NC_000019.10:g.11129669C>A
CM000681.2:g.11129669C>A
NC_000019.9:g.11240345C>A
CM000681.1:g.11240345C>A
NC_000019.8:g.11101345C>A
NG_009060.1:g.45289C>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Likely Pathogenic
Evidence Links 0
Uuid: 58ad8eee-de96-4112-af59-af6615224440
NM_000527.5:c.2531G>A
NC_000019.10:g.11129654G>A
CM000681.2:g.11129654G>A
NC_000019.9:g.11240330G>A
CM000681.1:g.11240330G>A
NC_000019.8:g.11101330G>A
NG_009060.1:g.45274G>A
NC_000019.10:g.11129654G>A
CM000681.2:g.11129654G>A
NC_000019.9:g.11240330G>A
CM000681.1:g.11240330G>A
NC_000019.8:g.11101330G>A
NG_009060.1:g.45274G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Likely Pathogenic
Evidence Links 1
Uuid: 7013887c-0f2d-4f01-93b1-32e2c36dc390
NM_000527.5:c.2479G>A
NC_000019.10:g.11129602G>A
CM000681.2:g.11129602G>A
NC_000019.9:g.11240278G>A
CM000681.1:g.11240278G>A
NC_000019.8:g.11101278G>A
NG_009060.1:g.45222G>A
NC_000019.10:g.11129602G>A
CM000681.2:g.11129602G>A
NC_000019.9:g.11240278G>A
CM000681.1:g.11240278G>A
NC_000019.8:g.11101278G>A
NG_009060.1:g.45222G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: 22d1d840-50cb-4d47-b68c-7e1b458094c2
NM_000527.5:c.2389+4A>G
NC_000019.10:g.11128089A>G
CM000681.2:g.11128089A>G
NC_000019.9:g.11238765A>G
CM000681.1:g.11238765A>G
NC_000019.8:g.11099765A>G
NG_009060.1:g.43709A>G
NC_000019.10:g.11128089A>G
CM000681.2:g.11128089A>G
NC_000019.9:g.11238765A>G
CM000681.1:g.11238765A>G
NC_000019.8:g.11099765A>G
NG_009060.1:g.43709A>G
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: 56e1a7d8-b14a-4759-be2e-3a9ea6668dec
NM_000527.5:c.2140+5G>A
NC_000019.10:g.11120527G>A
CM000681.2:g.11120527G>A
NC_000019.9:g.11231203G>A
CM000681.1:g.11231203G>A
NC_000019.8:g.11092203G>A
NG_009060.1:g.36147G>A
NC_000019.10:g.11120527G>A
CM000681.2:g.11120527G>A
NC_000019.9:g.11231203G>A
CM000681.1:g.11231203G>A
NC_000019.8:g.11092203G>A
NG_009060.1:g.36147G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Benign
Evidence Links 0
Uuid: 3baa34ee-ff35-4201-b317-1815827dce8e
NM_000527.5:c.2140+1G>A
NC_000019.10:g.11120523G>A
CM000681.2:g.11120523G>A
NC_000019.9:g.11231199G>A
CM000681.1:g.11231199G>A
NC_000019.8:g.11092199G>A
NG_009060.1:g.36143G>A
NC_000019.10:g.11120523G>A
CM000681.2:g.11120523G>A
NC_000019.9:g.11231199G>A
CM000681.1:g.11231199G>A
NC_000019.8:g.11092199G>A
NG_009060.1:g.36143G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Expert Panel(s)
Pathogenic
Evidence Links 0
Uuid: 4ce3f966-2bbf-4b29-ad24-d066a9b9ef76
NM_000527.5:c.2101G>A
NC_000019.10:g.11120483G>A
CM000681.2:g.11120483G>A
NC_000019.9:g.11231159G>A
CM000681.1:g.11231159G>A
NC_000019.8:g.11092159G>A
NG_009060.1:g.36103G>A
NC_000019.10:g.11120483G>A
CM000681.2:g.11120483G>A
NC_000019.9:g.11231159G>A
CM000681.1:g.11231159G>A
NC_000019.8:g.11092159G>A
NG_009060.1:g.36103G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: ea33bc95-d102-418a-b019-83d258dcad77
NM_000527.5:c.2096C>T
NC_000019.10:g.11120478C>T
CM000681.2:g.11120478C>T
NC_000019.9:g.11231154C>T
CM000681.1:g.11231154C>T
NC_000019.8:g.11092154C>T
NG_009060.1:g.36098C>T
NC_000019.10:g.11120478C>T
CM000681.2:g.11120478C>T
NC_000019.9:g.11231154C>T
CM000681.1:g.11231154C>T
NC_000019.8:g.11092154C>T
NG_009060.1:g.36098C>T
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: c12a6a0d-1d06-4705-8036-67b2e5a31e81
NM_000527.5:c.2043C>G
NC_000019.10:g.11120425C>G
CM000681.2:g.11120425C>G
NC_000019.9:g.11231101C>G
CM000681.1:g.11231101C>G
NC_000019.8:g.11092101C>G
NG_009060.1:g.36045C>G
NC_000019.10:g.11120425C>G
CM000681.2:g.11120425C>G
NC_000019.9:g.11231101C>G
CM000681.1:g.11231101C>G
NC_000019.8:g.11092101C>G
NG_009060.1:g.36045C>G
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Pathogenic
Evidence Links 0
Uuid: 218276d3-2d8e-4ff6-8f45-a17666d02565
NM_000527.5:c.2000G>A
NC_000019.10:g.11120382G>A
CM000681.2:g.11120382G>A
NC_000019.9:g.11231058G>A
CM000681.1:g.11231058G>A
NC_000019.8:g.11092058G>A
NG_009060.1:g.36002G>A
NC_000019.10:g.11120382G>A
CM000681.2:g.11120382G>A
NC_000019.9:g.11231058G>A
CM000681.1:g.11231058G>A
NC_000019.8:g.11092058G>A
NG_009060.1:g.36002G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Expert Panel(s)
Likely Pathogenic
Evidence Links 0
Uuid: 29ba2878-e776-400d-a89d-3ebaa40d7543
NM_000527.5:c.1966C>A
NC_000019.10:g.11120212C>A
CM000681.2:g.11120212C>A
NC_000019.9:g.11230888C>A
CM000681.1:g.11230888C>A
NC_000019.8:g.11091888C>A
NG_009060.1:g.35832C>A
NC_000019.10:g.11120212C>A
CM000681.2:g.11120212C>A
NC_000019.9:g.11230888C>A
CM000681.1:g.11230888C>A
NC_000019.8:g.11091888C>A
NG_009060.1:g.35832C>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: f4f2a927-e1d2-47a5-a59b-828b25fd786a
NM_000527.5:c.1965C>G
NC_000019.10:g.11120211C>G
CM000681.2:g.11120211C>G
NC_000019.9:g.11230887C>G
CM000681.1:g.11230887C>G
NC_000019.8:g.11091887C>G
NG_009060.1:g.35831C>G
NC_000019.10:g.11120211C>G
CM000681.2:g.11120211C>G
NC_000019.9:g.11230887C>G
CM000681.1:g.11230887C>G
NC_000019.8:g.11091887C>G
NG_009060.1:g.35831C>G
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Likely Pathogenic
Evidence Links 0
Uuid: 0295e6fb-e527-4826-a143-03161d46853d
NM_000527.5:c.1855T>C
NC_000019.10:g.11120101T>C
CM000681.2:g.11120101T>C
NC_000019.9:g.11230777T>C
CM000681.1:g.11230777T>C
NC_000019.8:g.11091777T>C
NG_009060.1:g.35721T>C
NC_000019.10:g.11120101T>C
CM000681.2:g.11120101T>C
NC_000019.9:g.11230777T>C
CM000681.1:g.11230777T>C
NC_000019.8:g.11091777T>C
NG_009060.1:g.35721T>C
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Expert Panel(s)
Likely Pathogenic
Evidence Links 1
Uuid: 53a6114d-d0ac-4c36-b589-da6298a96154
NM_000527.5:c.1816G>T
NC_000019.10:g.11116969G>T
CM000681.2:g.11116969G>T
NC_000019.9:g.11227645G>T
CM000681.1:g.11227645G>T
NC_000019.8:g.11088645G>T
NG_009060.1:g.32589G>T
NC_000019.10:g.11116969G>T
CM000681.2:g.11116969G>T
NC_000019.9:g.11227645G>T
CM000681.1:g.11227645G>T
NC_000019.8:g.11088645G>T
NG_009060.1:g.32589G>T
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
Uuid: ba5d5793-ffd3-48df-89c0-24c7600a8a6d
NM_000527.5:c.1783C>T
NC_000019.10:g.11116936C>T
CM000681.2:g.11116936C>T
NC_000019.9:g.11227612C>T
CM000681.1:g.11227612C>T
NC_000019.8:g.11088612C>T
NG_009060.1:g.32556C>T
NC_000019.10:g.11116936C>T
CM000681.2:g.11116936C>T
NC_000019.9:g.11227612C>T
CM000681.1:g.11227612C>T
NC_000019.8:g.11088612C>T
NG_009060.1:g.32556C>T
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Pathogenic
Evidence Links 0
Uuid: cd0c4aea-7158-4181-83f0-1c4cce449e45
NM_000527.5:c.1775G>A
NC_000019.10:g.11116928G>A
CM000681.2:g.11116928G>A
NC_000019.9:g.11227604G>A
CM000681.1:g.11227604G>A
NC_000019.8:g.11088604G>A
NG_009060.1:g.32548G>A
NC_000019.10:g.11116928G>A
CM000681.2:g.11116928G>A
NC_000019.9:g.11227604G>A
CM000681.1:g.11227604G>A
NC_000019.8:g.11088604G>A
NG_009060.1:g.32548G>A
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Expert Panel(s)
Pathogenic
Evidence Links 0
Uuid: fd1d2de9-2acd-4e4a-820d-02e74d6b59b6
NM_000527.5:c.1576C>T
NC_000019.10:g.11113752C>T
CM000681.2:g.11113752C>T
NC_000019.9:g.11224428C>T
CM000681.1:g.11224428C>T
NC_000019.8:g.11085428C>T
NG_009060.1:g.29372C>T
NC_000019.10:g.11113752C>T
CM000681.2:g.11113752C>T
NC_000019.9:g.11224428C>T
CM000681.1:g.11224428C>T
NC_000019.8:g.11085428C>T
NG_009060.1:g.29372C>T
Criteria Specification: ACMG variant classification Familial Hypercholesterolemia
Uncertain Significance
Evidence Links 0
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.