| NM_000527.5(LDLR):c.854A>G (p.His285Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001272181]|not provided [RCV000519037] |
Chr19:11107428 [GRCh38]
Chr19:11218104 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11100203)_(11102806_?)del |
deletion |
Familial hypercholesterolemia [RCV001858053]|Hypercholesterolemia, familial, 1 [RCV000533042] |
Chr19:11100203..11102806 [GRCh38]
Chr19:11210879..11213482 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.90C>G (p.Asn30Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001273280]|Hypercholesterolemia, familial, 1 [RCV004003649]|not provided [RCV000521404] |
Chr19:11100245 [GRCh38]
Chr19:11210921 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2140+86C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000023602] |
Chr19:11120608 [GRCh38]
Chr19:11231284 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.897T>G (p.Ala299=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001412337] |
Chr19:11107471 [GRCh38]
Chr19:11218147 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408481]|Familial hypercholesterolemia [RCV000722113]|Hypercholesterolemia, familial, 1 [RCV000030122]|LDLR-related condition [RCV003952374]|not provided [RCV000413322] |
Chr19:11110766 [GRCh38]
Chr19:11221442 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1061-8T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002399342]|Familial hypercholesterolemia [RCV001083488]|Hypercholesterolemia, familial, 1 [RCV000030123]|not provided [RCV000759074]|not specified [RCV000245346] |
Chr19:11111506 [GRCh38]
Chr19:11222182 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426524]|Familial hypercholesterolemia [RCV000775055]|Hypercholesterolemia [RCV002051646]|Hypercholesterolemia, familial, 1 [RCV000030124] |
Chr19:11111538 [GRCh38]
Chr19:11222214 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362601]|Familial hypercholesterolemia [RCV001034664]|Homozygous familial hypercholesterolemia [RCV000844747]|Hypercholesterolemia [RCV002051647]|Hypercholesterolemia, familial, 1 [RCV000030125]|not provided [RCV001537253] |
Chr19:11113313 [GRCh38]
Chr19:11223989 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001248956]|Hypercholesterolemia, familial, 1 [RCV000030126] |
Chr19:11113382 [GRCh38]
Chr19:11224058 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1358+2T>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002381272]|Familial hypercholesterolemia [RCV000775065]|Homozygous familial hypercholesterolemia [RCV000844727]|Hypercholesterolemia [RCV002287348]|Hypercholesterolemia, familial, 1 [RCV000030127]|not provided [RCV000520751] |
Chr19:11113451 [GRCh38]
Chr19:11224127 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001050334]|Hypercholesterolemia, familial, 1 [RCV000030128]|not specified [RCV003234927] |
Chr19:11113557 [GRCh38]
Chr19:11224233 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1706-21_1706-19del |
deletion |
Familial hypercholesterolemia [RCV001826522]|Hypercholesterolemia, familial, 1 [RCV000030129] |
Chr19:11116838..11116840 [GRCh38]
Chr19:11227514..11227516 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001852598]|Hypercholesterolemia, familial, 1 [RCV000030130]|not provided [RCV000498572] |
Chr19:11120224 [GRCh38]
Chr19:11230900 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415393]|Familial hypercholesterolemia [RCV000775084]|Hypercholesterolemia, familial, 1 [RCV000030131]|not provided [RCV000313287] |
Chr19:11120382 [GRCh38]
Chr19:11231058 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415431]|Familial hypercholesterolemia [RCV000722114]|Hypercholesterolemia, familial, 1 [RCV000030132]|not provided [RCV001537549] |
Chr19:11120495 [GRCh38]
Chr19:11231171 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2140+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002426525]|Familial hypercholesterolemia [RCV000771073]|Hypercholesterolemia, familial, 1 [RCV000030133]|LDLR-related condition [RCV003904871]|not provided [RCV000858033]|not specified [RCV000614028] |
Chr19:11120527 [GRCh38]
Chr19:11231203 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426526]|Familial hypercholesterolemia [RCV000771082]|Hypercholesterolemia, familial, 1 [RCV000030134]|not provided [RCV000162011]|not specified [RCV000247593] |
Chr19:11123210 [GRCh38]
Chr19:11233886 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453272]|Familial hypercholesterolemia [RCV001079897]|Hypercholesterolemia [RCV002051648]|Hypercholesterolemia, familial, 1 [RCV000030135]|not provided [RCV000058923]|not specified [RCV000855648] |
Chr19:11129602 [GRCh38]
Chr19:11240278 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453273]|Familial hypercholesterolemia [RCV001831614]|Hypercholesterolemia, familial, 1 [RCV000030136] |
Chr19:11105268 [GRCh38]
Chr19:11215944 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.507C>T (p.Asn169=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336095]|Familial hypercholesterolemia [RCV000775042]|Hypercholesterolemia, familial, 1 [RCV000030137]|LDLR-related condition [RCV003914870]|not provided [RCV001711090]|not specified [RCV000454741] |
Chr19:11105413 [GRCh38]
Chr19:11216089 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NC_000019.10:g.(11077742_11077775)_(11093595_11093630)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003899] |
Chr19:11077775..11093595 [GRCh38]
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.97C>T (p.Gln33Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381238]|Familial hypercholesterolemia [RCV001034691]|Hypercholesterolemia, familial, 1 [RCV000003868]|not provided [RCV000786350] |
Chr19:11100252 [GRCh38]
Chr19:11210928 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.4(LDLR):c.137_142delGCGATG (p.Asp47_Gly48del) |
deletion |
Familial hypercholesterolemia [RCV000003869] |
Chr19:11100292..11100297 [GRCh38]
Chr19:11210968..11210973 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426484]|Familial hypercholesterolemia [RCV000776466]|Homozygous familial hypercholesterolemia [RCV000844748]|Hypercholesterolemia, familial, 1 [RCV000003870]|not provided [RCV000622852] |
Chr19:11102732 [GRCh38]
Chr19:11213408 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.530C>T (p.Ser177Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345224]|Familial hypercholesterolemia [RCV000588687]|Hypercholesterolemia, familial, 1 [RCV000003871]|not provided [RCV000161958] |
Chr19:11105436 [GRCh38]
Chr19:11216112 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other|not provided |
| NM_000527.4(LDLR):c.652_654delGGT (p.Gly219del) |
deletion |
Familial hypercholesterolemia [RCV000003872] |
Chr19:11105558..11105560 [GRCh38]
Chr19:11216234..11216236 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399308]|Familial hypercholesterolemia [RCV000791454]|Homozygous familial hypercholesterolemia [RCV001195593]|Hypercholesterolemia, familial, 1 [RCV000003874] |
Chr19:11116201 [GRCh38]
Chr19:11226877 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362555]|Familial hypercholesterolemia [RCV000771320]|Hypercholesterolemia, familial, 1 [RCV000003876]|not provided [RCV001823092] |
Chr19:11105587 [GRCh38]
Chr19:11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) |
single nucleotide variant |
Aortic dissection [RCV000735406]|Cardiovascular phenotype [RCV002362556]|Familial hypercholesterolemia [RCV000775232]|Homozygous familial hypercholesterolemia [RCV000844738]|Hypercholesterolemia, familial, 1 [RCV000003878]|not provided [RCV000623885] |
Chr19:11105588 [GRCh38]
Chr19:11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371758]|Familial hypercholesterolemia [RCV000791377]|Homozygous familial hypercholesterolemia [RCV000826215]|Hypercholesterolemia [RCV002051612]|Hypercholesterolemia, familial, 1 [RCV000003880]|not provided [RCV000985772] |
Chr19:11107484 [GRCh38]
Chr19:11218160 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| FH Nashville |
insertion |
Familial hypercholesterolemia 1 [RCV000003881]|Familial hypercholesterolemia [RCV000003881] |
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.1285G>A (p.Val429Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381239]|Familial hypercholesterolemia [RCV000775062]|Homozygous familial hypercholesterolemia [RCV004017225]|Hypercholesterolemia, familial, 1 [RCV000003882]|not provided [RCV000786355] |
Chr19:11113376 [GRCh38]
Chr19:11224052 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381240]|Familial hypercholesterolemia [RCV000806811]|Homozygous familial hypercholesterolemia [RCV004017226]|Hypercholesterolemia, familial, 1 [RCV000003883]|not provided [RCV000985760] |
Chr19:11113382 [GRCh38]
Chr19:11224058 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.1567G>A (p.Val523Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399309]|Familial hypercholesterolemia [RCV000587718]|Homozygous familial hypercholesterolemia [RCV000825622]|Hypercholesterolemia, familial, 1 [RCV000003884]|not provided [RCV000161992] |
Chr19:11113743 [GRCh38]
Chr19:11224419 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other|not provided |
| NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001175478]|Hypercholesterolemia, familial, 1 [RCV000003885] |
Chr19:11116144 [GRCh38]
Chr19:11226820 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390088]|Familial hypercholesterolemia [RCV000587938]|Hypercholesterolemia, familial, 1 [RCV000003886]|not provided [RCV000161997] |
Chr19:11116153 [GRCh38]
Chr19:11226829 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other|not provided |
| NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415394]|Familial hypercholesterolemia [RCV000590806]|Homozygous familial hypercholesterolemia [RCV000844750]|Hypercholesterolemia [RCV002287320]|Hypercholesterolemia, familial, 1 [RCV000003887]|not provided [RCV000481771] |
Chr19:11120425 [GRCh38]
Chr19:11231101 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| FH Paris 1 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003888] |
Chr19:11106439..11107211 [GRCh38]
Chr19:11217115..11217887 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| FH Cape Town 2 |
deletion |
FH LEIDEN 1 [RCV000575461]|Hypercholesterolemia, familial, 1 [RCV000003889] |
Chr19:11110651..11111640 [GRCh38]
Chr19:11221327..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415395]|Familial hypercholesterolemia [RCV000775085]|Homozygous familial hypercholesterolemia [RCV000844731]|Hypercholesterolemia, familial, 1 [RCV000003891]|not provided [RCV000162007] |
Chr19:11120436 [GRCh38]
Chr19:11231112 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other|not provided |
| NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000003892] |
Chr19:11129562 [GRCh38]
Chr19:11240238 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426485]|Familial hypercholesterolemia [RCV002512729]|Hypercholesterolemia, familial, 1 [RCV000003893]|not provided [RCV000162025] |
Chr19:11129606 [GRCh38]
Chr19:11240282 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other|not provided |
| NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000003895]|not provided [RCV001256974] |
Chr19:11129568..11129569 [GRCh38]
Chr19:11240246..11240249 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362557]|Familial hypercholesterolemia [RCV001851629]|Hypercholesterolemia, familial, 1 [RCV000003896] |
Chr19:11105576 [GRCh38]
Chr19:11216252 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| LDLR, EX2-8DUP |
duplication |
Familial hypercholesterolemia 1 [RCV000003897]|Familial hypercholesterolemia [RCV000003897] |
Chr19:19p13.2 |
pathogenic|other |
| FH Paris 2 |
duplication |
Familial hypercholesterolemia 1 [RCV000003898]|Familial hypercholesterolemia [RCV000003898] |
Chr19:19p13.2 |
pathogenic|other |
| FH French Canadian 5 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003901] |
Chr19:11100222..11102787 [GRCh38]
Chr19:11210898..11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.2311+251_*813del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003905] |
Chr19:11123590..11132124 [GRCh38]
Chr19:11234266..11242800 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| FH Vancouver 4 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003907] |
Chr19:11100222..11107515 [GRCh38]
Chr19:11210898..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|other |
| FH Vancouver 3 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003909] |
Chr19:11102663..11111640 [GRCh38]
Chr19:11213339..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| FH London 1 |
deletion |
Familial hypercholesterolemia [RCV000003910] |
Chr19:19p13.2 |
pathogenic|other |
| FH London 2 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003913] |
Chr19:19p13.2 |
pathogenic|other |
| FH Osaka 2 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003914] |
Chr19:11110330..11121805 [GRCh38]
Chr19:11221006..11232481 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| FH Vancouver 2 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003915] |
Chr19:19p13.2 |
pathogenic|other |
| FH Vancouver 6 |
deletion |
Familial hypercholesterolemia [RCV000003916] |
Chr19:19p13.2 |
pathogenic|other |
| FH Reykjavik |
deletion |
Familial hypercholesterolemia 1 [RCV000003917] |
Chr19:19p13.2 |
pathogenic|other |
| FH Tonami 1 |
deletion |
Familial hypercholesterolemia [RCV000003918] |
Chr19:19p13.2 |
pathogenic|other |
| FH Tsukuba 2 |
deletion |
Familial hypercholesterolemia 1 [RCV000003919] |
Chr19:19p13.2 |
pathogenic|other |
| LDLR, EX17-18DEL |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003920] |
Chr19:19p13.2 |
pathogenic|other |
| FH Leiden 2 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003921] |
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.1891_2311+1062del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003922] |
Chr19:11120136..11124405 [GRCh38]
Chr19:11230812..11235081 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| FH Bologna 2 |
duplication |
Familial hypercholesterolemia [RCV000003923] |
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336075]|Familial hypercholesterolemia [RCV000775043]|Hypercholesterolemia, familial, 1 [RCV000003924]|not provided [RCV001090451] |
Chr19:11105429 [GRCh38]
Chr19:11216105 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345225]|Familial hypercholesterolemia [RCV001186871]|Homozygous familial hypercholesterolemia [RCV004017227]|Hypercholesterolemia, familial, 1 [RCV000003925] |
Chr19:11105470 [GRCh38]
Chr19:11216146 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| FH Pavia |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003926] |
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.925_931del (p.Pro309fs) |
deletion |
Familial hypercholesterolemia [RCV000810136]|Hypercholesterolemia, familial, 1 [RCV000003927] |
Chr19:11107498..11107504 [GRCh38]
Chr19:11218175..11218181 [GRCh37]
Chr19:19p13.2 |
pathogenic|other |
| NM_000527.5(LDLR):c.693C>A (p.Cys231Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362558]|Familial hypercholesterolemia [RCV000775046]|Hypercholesterolemia, familial, 1 [RCV000003928] |
Chr19:11105599 [GRCh38]
Chr19:11216275 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.680_681del (p.Asp227fs) |
deletion |
Cardiovascular phenotype [RCV002362559]|Familial hypercholesterolemia [RCV001201362]|Homozygous familial hypercholesterolemia [RCV000844736]|Hypercholesterolemia, familial, 1 [RCV000003929]|not provided [RCV000517763] |
Chr19:11105586..11105587 [GRCh38]
Chr19:11216262..11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.1297G>C (p.Asp433His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001851630]|Hypercholesterolemia, familial, 1 [RCV000003930] |
Chr19:11113388 [GRCh38]
Chr19:11224064 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) |
duplication |
Familial hypercholesterolemia [RCV001201377]|Hypercholesterolemia, familial, 1 [RCV000003931]|not provided [RCV003457636] |
Chr19:11105566..11105567 [GRCh38]
Chr19:11216246..11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001523922]|Hypercholesterolemia, familial, 1 [RCV000003932] |
Chr19:11129654 [GRCh38]
Chr19:11240330 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.1202T>A (p.Leu401His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345226]|Familial hypercholesterolemia [RCV001220262]|Hypercholesterolemia, familial, 1 [RCV000003933] |
Chr19:11113293 [GRCh38]
Chr19:11223969 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.4(LDLR):c.313+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002321469]|Familial hypercholesterolemia [RCV000791438]|Homozygous familial hypercholesterolemia [RCV000844753]|Hypercholesterolemia [RCV002287321]|Hypercholesterolemia, familial, 1 [RCV000003934]|LDLR-related condition [RCV003944798]|not provided [RCV000058917] |
Chr19:11102787 [GRCh38]
Chr19:11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|other|not provided |
| NM_000527.4(LDLR):c.694+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002362560]|Familial hypercholesterolemia [RCV001201185]|Hypercholesterolemia, familial, 1 [RCV000003936] |
Chr19:11105602 [GRCh38]
Chr19:11216278 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
| NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345227]|Familial hypercholesterolemia [RCV000587146]|Homozygous familial hypercholesterolemia [RCV000826197]|Hypercholesterolemia, familial, 1 [RCV000003937]|not provided [RCV001535532] |
Chr19:11105457 [GRCh38]
Chr19:11216133 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other|not provided |
| NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408448]|Familial hypercholesterolemia [RCV000776469]|Homozygous familial hypercholesterolemia [RCV000825593]|Hypercholesterolemia [RCV002051613]|Hypercholesterolemia, familial, 1 [RCV000003938] |
Chr19:11106652 [GRCh38]
Chr19:11217328 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381241]|Familial hypercholesterolemia [RCV000775022]|Homozygous familial hypercholesterolemia [RCV000844726]|Hypercholesterolemia, familial, 1 [RCV000003939]|not provided [RCV000786354] |
Chr19:11100286 [GRCh38]
Chr19:11210962 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000003940] |
Chr19:11100292 [GRCh38]
Chr19:11210968 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.326G>C (p.Cys109Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000003941] |
Chr19:11105232 [GRCh38]
Chr19:11215908 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2140+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002426486]|Familial hypercholesterolemia [RCV000775089]|Hypercholesterolemia, familial, 1 [RCV000003942]|LDLR-related condition [RCV003398438]|not provided [RCV001787369] |
Chr19:11120523 [GRCh38]
Chr19:11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-138del |
deletion |
Familial hypercholesterolemia [RCV002512730]|Hypercholesterolemia, familial, 1 [RCV000003943] |
Chr19:11089411 [GRCh38]
Chr19:11200087 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other |
| NM_000527.5(LDLR):c.1216C>A (p.Arg406=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354146]|Familial hypercholesterolemia [RCV000588218]|Hypercholesterolemia, familial, 1 [RCV000003944] |
Chr19:11113307 [GRCh38]
Chr19:11223983 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.621C>T (p.Gly207=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362561]|Familial hypercholesterolemia [RCV001389663]|Hypercholesterolemia, familial, 1 [RCV000003945]|not provided [RCV002254902] |
Chr19:11105527 [GRCh38]
Chr19:11216203 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4:c.(67+1_68-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV001450042] |
|
pathogenic |
| NM_000527.4(LDLR):c.-135C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000627174] |
Chr19:11089414 [GRCh38]
Chr19:11200090 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.170A>C (p.Asp57Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000627176] |
Chr19:11100325 [GRCh38]
Chr19:11211001 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter) |
single nucleotide variant |
not provided [RCV000627325] |
Chr19:11116166 [GRCh38]
Chr19:11226842 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1811delinsCT (p.Arg604fs) |
indel |
Familial hypercholesterolemia [RCV003153681]|not provided [RCV000786160] |
Chr19:11116964 [GRCh38]
Chr19:11227640 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NC_000019.9:g.(?_11240188)_(11240347_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV003318760] |
Chr19:11240188..11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11233830)_(11242035_?)dup |
duplication |
Familial hypercholesterolemia [RCV003105942]|Hypercholesterolemia, familial, 1 [RCV000546994] |
Chr19:11123154..11131359 [GRCh38]
Chr19:11233830..11242035 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1323C>T (p.Ile441=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384049]|Familial hypercholesterolemia [RCV000771544]|Hypercholesterolemia, familial, 1 [RCV000548668]|LDLR-related condition [RCV003960265]|not provided [RCV001706662]|not specified [RCV000781494] |
Chr19:11113414 [GRCh38]
Chr19:11224090 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) |
indel |
Cardiovascular phenotype [RCV002420356]|Familial hypercholesterolemia [RCV000776109]|Hypercholesterolemia, familial, 1 [RCV000543887]|not specified [RCV000614040] |
Chr19:11123264..11123265 [GRCh38]
Chr19:11233940..11233941 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NC_000019.10:g.(?_11110632)_(11117018_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000543243] |
Chr19:11110632..11117018 [GRCh38]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 |
copy number gain |
See cases [RCV000052908] |
Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13 |
likely pathogenic |
| GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 |
copy number gain |
See cases [RCV000052909] |
Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12 |
pathogenic |
| NM_000527.5(LDLR):c.570C>T (p.Phe190=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002114941] |
Chr19:11105476 [GRCh38]
Chr19:11216152 [GRCh37]
Chr19:11077152 [NCBI36]
Chr19:19p13.2 |
likely benign|not provided |
| NM_000527.4(LDLR):c.2421C>T (p.Phe807=) |
single nucleotide variant |
Malignant melanoma [RCV000063426] |
Chr19:11129544 [GRCh38]
Chr19:11240220 [GRCh37]
Chr19:11101220 [NCBI36]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390209]|Familial hypercholesterolemia [RCV000776111]|Hypercholesterolemia [RCV002051650]|Hypercholesterolemia, familial, 1 [RCV000210234]|LDLR-related condition [RCV003905026]|not provided [RCV000058916]|not specified [RCV000455660] |
Chr19:11100303 [GRCh38]
Chr19:11210979 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.653del (p.Gly218fs) |
deletion |
Cardiovascular phenotype [RCV002362695]|Familial hypercholesterolemia [RCV001201376]|Hypercholesterolemia, familial, 1 [RCV000237824]|not provided [RCV000058918] |
Chr19:11105558 [GRCh38]
Chr19:11216234 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.1356C>T (p.Cys452=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775064]|Hypercholesterolemia, familial, 1 [RCV003996558]|not provided [RCV000058919] |
Chr19:11113447 [GRCh38]
Chr19:11224123 [GRCh37]
Chr19:19p13.2 |
likely benign|not provided |
| NM_000527.5(LDLR):c.1875C>T (p.Asn625=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408569]|Familial hypercholesterolemia [RCV000771316]|Hypercholesterolemia, familial, 1 [RCV000210227]|LDLR-related condition [RCV003944982]|not provided [RCV000058920]|not specified [RCV000606941] |
Chr19:11120121 [GRCh38]
Chr19:11230797 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426620]|Familial hypercholesterolemia [RCV001082553]|Hypercholesterolemia, familial, 1 [RCV000172965]|not provided [RCV000058922]|not specified [RCV001698956] |
Chr19:11123264 [GRCh38]
Chr19:11233940 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1418T>G (p.Ile473Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000660713] |
Chr19:11113594 [GRCh38]
Chr19:11224270 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660731] |
Chr19:11106564..11107515 [GRCh38]
Chr19:11217240..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:11089362-11107515)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660736] |
Chr19:11089362..11107515 [GRCh38]
Chr19:11200038..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:11116092-11116093)x3 |
copy number gain |
Hypercholesterolemia, familial, 1 [RCV000660738] |
Chr19:11116092..11116093 [GRCh38]
Chr19:11226769..11227675 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2092T>G (p.Cys698Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000660721] |
Chr19:11120474 [GRCh38]
Chr19:11231150 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660730] |
Chr19:11120091..11120523 [GRCh38]
Chr19:11230767..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660732] |
Chr19:11100222..11107515 [GRCh38]
Chr19:11210898..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1587-11C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177674]|Hypercholesterolemia, familial, 1 [RCV000660716]|not specified [RCV002235531] |
Chr19:11116083 [GRCh38]
Chr19:11226759 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1693_1696del (p.Gly565fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000660717] |
Chr19:11116200..11116203 [GRCh38]
Chr19:11226876..11226879 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660739] |
Chr19:11102663..11107515 [GRCh38]
Chr19:11213339..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2061dup (p.Asn688fs) |
duplication |
Cardiovascular phenotype [RCV002415518]|Familial hypercholesterolemia [RCV000781503]|Homozygous familial hypercholesterolemia [RCV000844732]|Hypercholesterolemia, familial, 1 [RCV000211582]|not provided [RCV000058921] |
Chr19:11120442..11120443 [GRCh38]
Chr19:11231119 [GRCh37]
Chr19:19p13.2 |
pathogenic|not provided |
| NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388169]|Hypercholesterolemia, familial, 1 [RCV000660714] |
Chr19:11113608 [GRCh38]
Chr19:11224284 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001835064]|Hypercholesterolemia, familial, 1 [RCV000660719]|not specified [RCV000780384] |
Chr19:11120146 [GRCh38]
Chr19:11230822 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2088C>T (p.Cys696=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775086]|Hypercholesterolemia, familial, 1 [RCV000660720] |
Chr19:11120470 [GRCh38]
Chr19:11231146 [GRCh37]
Chr19:19p13.2 |
likely benign |
| GRCh38/hg38 19p13.2(chr19:11110650-11110651)x3 |
copy number gain |
Hypercholesterolemia, familial, 1 [RCV000660728] |
Chr19:11110650..11110651 [GRCh38]
Chr19:11221327..11221448 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660733] |
Chr19:11089362..11100346 [GRCh38]
Chr19:11200038..11211022 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:11210898-11218191)x3 |
copy number gain |
Hypercholesterolemia, familial, 1 [RCV000660741] |
Chr19:11210898..11218191 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003284137]|Familial hypercholesterolemia [RCV003741255]|not provided [RCV001284640] |
Chr19:11113743 [GRCh38]
Chr19:11224419 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2390-3C>G |
single nucleotide variant |
not provided [RCV001284646] |
Chr19:11129510 [GRCh38]
Chr19:11240186 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1988-5C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001498525] |
Chr19:11120365 [GRCh38]
Chr19:11231041 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444605]|Familial hypercholesterolemia [RCV001228564]|Hypercholesterolemia [RCV002051658]|Hypercholesterolemia, familial, 1 [RCV000237920]|not provided [RCV002305450] |
Chr19:11129598 [GRCh38]
Chr19:11240274 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433637]|Familial hypercholesterolemia [RCV000775032]|Homozygous familial hypercholesterolemia [RCV000844744]|Hypercholesterolemia [RCV002051659]|Hypercholesterolemia, familial, 1 [RCV000211583]|not provided [RCV000162016] |
Chr19:11102774 [GRCh38]
Chr19:11213450 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345455]|Familial hypercholesterolemia [RCV000586642]|Hypercholesterolemia [RCV002051660]|Hypercholesterolemia, familial, 1 [RCV000238417]|not provided [RCV000255176] |
Chr19:11113292 [GRCh38]
Chr19:11223968 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371991]|Familial hypercholesterolemia [RCV000775051]|Homozygous familial hypercholesterolemia [RCV000826170]|Hypercholesterolemia [RCV002051661]|Hypercholesterolemia, familial, 1 [RCV000234348]|not provided [RCV001843483] |
Chr19:11107436 [GRCh38]
Chr19:11218112 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433638]|Familial hypercholesterolemia [RCV000775030]|Hypercholesterolemia [RCV002051662]|Hypercholesterolemia, familial, 1 [RCV000238369] |
Chr19:11102769 [GRCh38]
Chr19:11213445 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004019779]|Familial hypercholesterolemia [RCV001207271]|Hypercholesterolemia [RCV002051663]|Hypercholesterolemia, familial, 1 [RCV000238307] |
Chr19:11113643 [GRCh38]
Chr19:11224319 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399517]|Familial hypercholesterolemia [RCV000587007]|Homozygous familial hypercholesterolemia [RCV000844730]|Hypercholesterolemia [RCV002051664]|Hypercholesterolemia, familial, 1 [RCV000172964]|Syndromic X-linked intellectual disability Najm type [RCV003330084]|not provided [RCV000162001] |
Chr19:11116928 [GRCh38]
Chr19:11227604 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354338]|Familial hypercholesterolemia [RCV000771169]|Hypercholesterolemia [RCV002051665]|Hypercholesterolemia, familial, 1 [RCV000211611]|LDLR-related condition [RCV003952707]|not provided [RCV000161949]|not specified [RCV000609054] |
Chr19:11089606 [GRCh38]
Chr19:11200282 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.185C>T (p.Thr62Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408657]|Familial hypercholesterolemia [RCV000775024]|Hypercholesterolemia [RCV002051666]|Hypercholesterolemia, familial, 1 [RCV000211598]|not provided [RCV000161951]|not specified [RCV000454406] |
Chr19:11100340 [GRCh38]
Chr19:11211016 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381456]|Familial hypercholesterolemia [RCV000771314]|Hypercholesterolemia [RCV002051667]|Hypercholesterolemia, familial, 1 [RCV000238033]|not provided [RCV000162022]|not specified [RCV000218676] |
Chr19:11110735 [GRCh38]
Chr19:11221411 [GRCh37]
Chr19:19p13.2 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided |
| NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399518]|Familial hypercholesterolemia [RCV000775052]|Hypercholesterolemia [RCV002051668]|Hypercholesterolemia, familial, 1 [RCV000237927]|not provided [RCV000161978] |
Chr19:11110768 [GRCh38]
Chr19:11221444 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362782]|Familial hypercholesterolemia [RCV000775060]|Hypercholesterolemia [RCV002051669]|Hypercholesterolemia, familial, 1 [RCV000211581]|not provided [RCV000519267] |
Chr19:11113329 [GRCh38]
Chr19:11224005 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390310]|Familial hypercholesterolemia [RCV000775069]|Homozygous familial hypercholesterolemia [RCV000826171]|Hypercholesterolemia [RCV002051670]|Hypercholesterolemia, familial, 1 [RCV000211688]|not provided [RCV001256967] |
Chr19:11113608 [GRCh38]
Chr19:11224284 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453471]|Familial hypercholesterolemia [RCV000776249]|Hypercholesterolemia [RCV002051671]|Hypercholesterolemia, familial, 1 [RCV000237126]|not provided [RCV000162024]|not specified [RCV001420704] |
Chr19:11129564 [GRCh38]
Chr19:11240240 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.806G>A (p.Gly269Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415633]|Familial hypercholesterolemia [RCV000775049]|Hypercholesterolemia [RCV002051672]|Hypercholesterolemia, familial, 1 [RCV000210247]|not provided [RCV000161966]|not specified [RCV002247541] |
Chr19:11106676 [GRCh38]
Chr19:11217352 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444606]|Familial hypercholesterolemia [RCV001176040]|Hypercholesterolemia [RCV002051673]|Hypercholesterolemia, familial, 1 [RCV000237748]|not specified [RCV002307407] |
Chr19:11107433 [GRCh38]
Chr19:11218109 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444607]|Familial hypercholesterolemia [RCV000791388]|Hypercholesterolemia [RCV002051674]|Hypercholesterolemia, familial, 1 [RCV000238462]|not provided [RCV000657894]|not specified [RCV000781501] |
Chr19:11107481 [GRCh38]
Chr19:11218157 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372619]|Familial hypercholesterolemia [RCV001181337]|Hypercholesterolemia [RCV002051675]|Hypercholesterolemia, familial, 1 [RCV000238216]|not provided [RCV003477564] |
Chr19:11110678 [GRCh38]
Chr19:11221354 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326857]|Familial hypercholesterolemia [RCV001181606]|Hypercholesterolemia [RCV002051676]|Hypercholesterolemia, familial, 1 [RCV000237987]|not provided [RCV002223790]|not specified [RCV003488400] |
Chr19:11111619 [GRCh38]
Chr19:11222295 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390311]|Familial hypercholesterolemia [RCV000775070]|Hypercholesterolemia [RCV002051677]|Hypercholesterolemia, familial, 1 [RCV000172963]|not provided [RCV000414235] |
Chr19:11113620 [GRCh38]
Chr19:11224296 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390312]|Familial hypercholesterolemia [RCV000590270]|Hypercholesterolemia [RCV002051678]|Hypercholesterolemia, familial, 1 [RCV000237459]|not provided [RCV000161989] |
Chr19:11113650 [GRCh38]
Chr19:11224326 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444608]|Familial hypercholesterolemia [RCV000815637]|Hypercholesterolemia [RCV002051679]|Hypercholesterolemia, familial, 1 [RCV000210245]|not provided [RCV000996761] |
Chr19:11123285 [GRCh38]
Chr19:11233961 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408658]|Familial hypercholesterolemia [RCV000791360]|Homozygous familial hypercholesterolemia [RCV000844745]|Hypercholesterolemia [RCV002051680]|Hypercholesterolemia, familial, 1 [RCV000172959]|not provided [RCV000162020] |
Chr19:11106668 [GRCh38]
Chr19:11217344 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1837G>A (p.Val613Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000771315]|Hypercholesterolemia [RCV002051681]|Hypercholesterolemia, familial, 1 [RCV000210230] |
Chr19:11116990 [GRCh38]
Chr19:11227666 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162606]|Familial hypercholesterolemia [RCV001181333]|Hypercholesterolemia [RCV002051682]|Hypercholesterolemia, familial, 1 [RCV000211670]|not provided [RCV001354269] |
Chr19:11102705 [GRCh38]
Chr19:11213381 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399519]|Familial hypercholesterolemia [RCV000588105]|Hypercholesterolemia [RCV002051683]|Hypercholesterolemia, familial, 1 [RCV000237585]|not provided [RCV000518174] |
Chr19:11116936 [GRCh38]
Chr19:11227612 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1359-1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002381462]|Familial hypercholesterolemia [RCV000775066]|Homozygous familial hypercholesterolemia [RCV000844728]|Hypercholesterolemia [RCV002051685]|Hypercholesterolemia, familial, 1 [RCV000172962]|not provided [RCV001579677] |
Chr19:11113534 [GRCh38]
Chr19:11224210 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.190+9C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001394513] |
Chr19:11100354 [GRCh38]
Chr19:11211030 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390309]|Familial hypercholesterolemia [RCV001085872]|Hypercholesterolemia [RCV002051654]|Hypercholesterolemia, familial, 1 [RCV000172958]|not provided [RCV000162019]|not specified [RCV001201284] |
Chr19:11106627 [GRCh38]
Chr19:11217303 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162605]|Familial hypercholesterolemia [RCV001186237]|Hypercholesterolemia [RCV002051655]|Hypercholesterolemia, familial, 1 [RCV000237277]|not provided [RCV000162013]|not specified [RCV000780383] |
Chr19:11123315 [GRCh38]
Chr19:11233991 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371990]|Familial hypercholesterolemia [RCV000771170]|Hypercholesterolemia [RCV002051656]|Hypercholesterolemia, familial, 1 [RCV000237236]|not provided [RCV000162021]|not specified [RCV000455308] |
Chr19:11110681 [GRCh38]
Chr19:11221357 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408656]|Familial hypercholesterolemia [RCV000791434]|Hypercholesterolemia [RCV002051657]|Hypercholesterolemia, familial, 1 [RCV000211562]|not provided [RCV000162003]|not specified [RCV002247540] |
Chr19:11116969 [GRCh38]
Chr19:11227645 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1483C>T (p.Leu495=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001493789] |
Chr19:11113659 [GRCh38]
Chr19:11224335 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.337G>T (p.Glu113Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453756]|Familial hypercholesterolemia [RCV002229195]|Hypercholesterolemia, familial, 1 [RCV000211560]|not provided [RCV000523979] |
Chr19:11105243 [GRCh38]
Chr19:11215919 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2483A>C (p.Tyr828Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211561] |
Chr19:11129606 [GRCh38]
Chr19:11240282 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327075]|Familial hypercholesterolemia [RCV002229196]|Hypercholesterolemia, familial, 1 [RCV000211567]|not provided [RCV001800540] |
Chr19:11105335 [GRCh38]
Chr19:11216011 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408918]|Familial hypercholesterolemia [RCV000590441]|Homozygous familial hypercholesterolemia [RCV000826210]|Hypercholesterolemia, familial, 1 [RCV000211568]|LDLR-related condition [RCV003407739]|not provided [RCV000486101] |
Chr19:11120143 [GRCh38]
Chr19:11230819 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426989]|Familial hypercholesterolemia [RCV000588365]|Hypercholesterolemia, familial, 1 [RCV000211569]|See cases [RCV003128396]|not provided [RCV001283999] |
Chr19:11100236 [GRCh38]
Chr19:11210912 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399779]|Familial hypercholesterolemia [RCV003741161]|Hypercholesterolemia, familial, 1 [RCV000211572] |
Chr19:11116099 [GRCh38]
Chr19:11226775 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354591]|Familial hypercholesterolemia [RCV001045722]|Homozygous familial hypercholesterolemia [RCV004017506]|Hypercholesterolemia, familial, 1 [RCV000211575]|LDLR-related condition [RCV003947693]|not provided [RCV001560136] |
Chr19:11113307 [GRCh38]
Chr19:11223983 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363058]|Familial hypercholesterolemia [RCV000799446]|Hypercholesterolemia, familial, 1 [RCV000211577]|not provided [RCV000985769] |
Chr19:11105570 [GRCh38]
Chr19:11216246 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211588] |
Chr19:11113376 [GRCh38]
Chr19:11224052 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.941-?_1186+?dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000211589] |
Chr19:11221327..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.1846-?_2140+?dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000211594] |
Chr19:11120092..11120522 [GRCh38]
Chr19:11230767..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.2141-?_(2583_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211599] |
Chr19:11233849..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1845+11C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001853403]|Hypercholesterolemia, familial, 1 [RCV000211610]|not provided [RCV001284642] |
Chr19:11117009 [GRCh38]
Chr19:11227685 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.417C>G (p.Asp139Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211617] |
Chr19:11105323 [GRCh38]
Chr19:11215999 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.818-?_1186+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211618] |
Chr19:11218067..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211620] |
Chr19:11100237 [GRCh38]
Chr19:11210913 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1898G>A (p.Arg633His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408919]|Familial hypercholesterolemia [RCV001188072]|Homozygous familial hypercholesterolemia [RCV004017507]|Hypercholesterolemia, familial, 1 [RCV000211621]|not provided [RCV001090454] |
Chr19:11120144 [GRCh38]
Chr19:11230820 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399780]|Familial hypercholesterolemia [RCV001034632]|Homozygous familial hypercholesterolemia [RCV001449699]|Hypercholesterolemia, familial, 1 [RCV000211624]|not provided [RCV000996756] |
Chr19:11116125 [GRCh38]
Chr19:11226801 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1187-10G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002336589]|Familial hypercholesterolemia [RCV000588170]|Homozygous familial hypercholesterolemia [RCV004017505]|Hypercholesterolemia, familial, 1 [RCV000211627]|not provided [RCV000786346] |
Chr19:11113268 [GRCh38]
Chr19:11223944 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2389G>A (p.Val797Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453757]|Familial hypercholesterolemia [RCV000587818]|Homozygous familial hypercholesterolemia [RCV000844752]|Hypercholesterolemia, familial, 1 [RCV000211628]|not provided [RCV000497399] |
Chr19:11128085 [GRCh38]
Chr19:11238761 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211629] |
Chr19:11113308 [GRCh38]
Chr19:11223984 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2355T>C (p.Ser785=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446990]|Familial hypercholesterolemia [RCV001180534]|Hypercholesterolemia, familial, 1 [RCV004006667] |
Chr19:11128051 [GRCh38]
Chr19:11238727 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2481C>T (p.Val827=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429809]|Familial hypercholesterolemia [RCV001180535]|Hypercholesterolemia, familial, 1 [RCV004006668]|not provided [RCV001701298] |
Chr19:11129604 [GRCh38]
Chr19:11240280 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2548-15A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180536] |
Chr19:11131266 [GRCh38]
Chr19:11241942 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2308C>G (p.Gln770Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181000] |
Chr19:11123341 [GRCh38]
Chr19:11234017 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.313+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002321678]|Familial hypercholesterolemia [RCV000771312]|Homozygous familial hypercholesterolemia [RCV000844755]|Hypercholesterolemia, familial, 1 [RCV000172957]|not provided [RCV000599492] |
Chr19:11102788 [GRCh38]
Chr19:11213464 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.811G>A (p.Val271Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190239]|Hypercholesterolemia, familial, 1 [RCV000172960]|not specified [RCV003398872] |
Chr19:11106681 [GRCh38]
Chr19:11217357 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001384763]|Hypercholesterolemia, familial, 1 [RCV000172961] |
Chr19:11107402 [GRCh38]
Chr19:11218078 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 |
copy number loss |
See cases [RCV000135403] |
Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.982G>A (p.Val328Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020493]|Familial hypercholesterolemia [RCV001176044]|Hypercholesterolemia, familial, 1 [RCV000202733] |
Chr19:11110693 [GRCh38]
Chr19:11221369 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 |
copy number loss |
See cases [RCV000141568] |
Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13 |
pathogenic |
| NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381529]|Familial hypercholesterolemia [RCV001182459]|Hypercholesterolemia, familial, 1 [RCV000237224]|LDLR-related condition [RCV003895079]|not provided [RCV000161983] |
Chr19:11113385 [GRCh38]
Chr19:11224061 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1336C>G (p.Leu446Val) |
single nucleotide variant |
not provided [RCV000161984] |
Chr19:11113427 [GRCh38]
Chr19:11224103 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804888]|Hypercholesterolemia, familial, 1 [RCV000237193]|not provided [RCV000161985]|not specified [RCV003235078] |
Chr19:11113557 [GRCh38]
Chr19:11224233 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390393]|Familial hypercholesterolemia [RCV001041965]|Hypercholesterolemia, familial, 1 [RCV000237809]|LDLR-related condition [RCV003895080]|not provided [RCV000161986] |
Chr19:11113569 [GRCh38]
Chr19:11224245 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390395]|Familial hypercholesterolemia [RCV000775068]|Homozygous familial hypercholesterolemia [RCV000844749]|Hypercholesterolemia, familial, 1 [RCV000237883]|not provided [RCV000161988] |
Chr19:11113590 [GRCh38]
Chr19:11224266 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001175675]|Hypercholesterolemia, familial, 1 [RCV000237290]|not provided [RCV000161990] |
Chr19:11113686 [GRCh38]
Chr19:11224362 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1547G>A (p.Gly516Asp) |
single nucleotide variant |
not provided [RCV000161991] |
Chr19:11113723 [GRCh38]
Chr19:11224399 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.1570G>A (p.Val524Met) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237418]|not provided [RCV000161993] |
Chr19:11113746 [GRCh38]
Chr19:11224422 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399589]|Familial hypercholesterolemia [RCV000775072]|Homozygous familial hypercholesterolemia [RCV004017445]|Hypercholesterolemia, familial, 1 [RCV000238217]|not provided [RCV000161994] |
Chr19:11113752 [GRCh38]
Chr19:11224428 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183446]|Hypercholesterolemia, familial, 1 [RCV002478493]|not provided [RCV000161995] |
Chr19:11113756 [GRCh38]
Chr19:11224432 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256343]|not provided [RCV000161996] |
Chr19:11113761 [GRCh38]
Chr19:11224437 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399590]|Familial hypercholesterolemia [RCV000791378]|Hypercholesterolemia, familial, 1 [RCV000238063]|not provided [RCV000161998]|not specified [RCV003330518] |
Chr19:11116873 [GRCh38]
Chr19:11227549 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1747C>G (p.His583Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237247]|not provided [RCV000161999] |
Chr19:11116900 [GRCh38]
Chr19:11227576 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|not provided |
| NM_000527.5(LDLR):c.1765G>C (p.Asp589His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804889]|Hypercholesterolemia, familial, 1 [RCV002505198]|not provided [RCV000162000] |
Chr19:11116918 [GRCh38]
Chr19:11227594 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001034677]|Hypercholesterolemia, familial, 1 [RCV000211609]|not provided [RCV000162002] |
Chr19:11116937 [GRCh38]
Chr19:11227613 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408721]|Familial hypercholesterolemia [RCV000771317]|Hypercholesterolemia, familial, 1 [RCV000211563]|not provided [RCV000162004]|not specified [RCV000454999] |
Chr19:11120122 [GRCh38]
Chr19:11230798 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415706]|Familial hypercholesterolemia [RCV000590648]|Hypercholesterolemia, familial, 1 [RCV000238255]|not provided [RCV000162005] |
Chr19:11120197 [GRCh38]
Chr19:11230873 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1954A>G (p.Met652Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237649]|not provided [RCV000162006]|not specified [RCV003330519] |
Chr19:11120200 [GRCh38]
Chr19:11230876 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415707]|Familial hypercholesterolemia [RCV001181781]|Hypercholesterolemia, familial, 1 [RCV000238415]|not provided [RCV000162008] |
Chr19:11120483 [GRCh38]
Chr19:11231159 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.2116A>G (p.Arg706Gly) |
single nucleotide variant |
not provided [RCV000162009] |
Chr19:11120498 [GRCh38]
Chr19:11231174 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.2126G>A (p.Arg709Lys) |
single nucleotide variant |
not provided [RCV000162010] |
Chr19:11120508 [GRCh38]
Chr19:11231184 [GRCh37]
Chr19:19p13.2 |
pathogenic|not provided |
| NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178125]|Hypercholesterolemia, familial, 1 [RCV000237615]|not provided [RCV000162012] |
Chr19:11123275 [GRCh38]
Chr19:11233951 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.2356A>G (p.Ser786Gly) |
single nucleotide variant |
not provided [RCV000162014] |
Chr19:11128052 [GRCh38]
Chr19:11238728 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.2398G>A (p.Val800Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182069]|Hypercholesterolemia, familial, 1 [RCV003998539]|not provided [RCV000162015] |
Chr19:11129521 [GRCh38]
Chr19:11240197 [GRCh37]
Chr19:19p13.2 |
likely benign|not provided |
| NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336377]|Familial hypercholesterolemia [RCV000775041]|Homozygous familial hypercholesterolemia [RCV000825592]|Hypercholesterolemia, familial, 1 [RCV000211669]|LDLR-related condition [RCV003927531]|not provided [RCV000162017] |
Chr19:11105408 [GRCh38]
Chr19:11216084 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000819529]|Hypercholesterolemia, familial, 1 [RCV000238334]|not provided [RCV000162018] |
Chr19:11105562 [GRCh38]
Chr19:11216238 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390394]|Familial hypercholesterolemia [RCV000771545]|Hypercholesterolemia, familial, 1 [RCV000417350]|not provided [RCV000161987] |
Chr19:11113578 [GRCh38]
Chr19:11224254 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326922]|Familial hypercholesterolemia [RCV001082380]|Hypercholesterolemia, familial, 1 [RCV000237576]|not provided [RCV000162023]|not specified [RCV000241875] |
Chr19:11111624 [GRCh38]
Chr19:11222300 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390373]|Familial hypercholesterolemia [RCV001034638]|Hypercholesterolemia, familial, 1 [RCV000157290] |
Chr19:11113644 [GRCh38]
Chr19:11224320 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1186+1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002336345]|Hypercholesterolemia, familial, 1 [RCV000157291] |
Chr19:11111640 [GRCh38]
Chr19:11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.143G>A (p.Gly48Asp) |
single nucleotide variant |
not provided [RCV000161950] |
Chr19:11100298 [GRCh38]
Chr19:11210974 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444668]|Early-onset coronary artery disease [RCV000586143]|Familial hypercholesterolemia [RCV001186037]|Homozygous familial hypercholesterolemia [RCV000826092]|Hypercholesterolemia, familial, 1 [RCV000237918]|not provided [RCV000161952] |
Chr19:11102714 [GRCh38]
Chr19:11213390 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.314C>T (p.Pro105Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124032]|not provided [RCV000161953] |
Chr19:11105220 [GRCh38]
Chr19:11215896 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453561]|Familial hypercholesterolemia [RCV001186038]|Homozygous familial hypercholesterolemia [RCV000454392]|Hypercholesterolemia, familial, 1 [RCV000211613]|not provided [RCV000161954] |
Chr19:11105258 [GRCh38]
Chr19:11215934 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.392A>G (p.Asp131Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002468570]|not provided [RCV000161955] |
Chr19:11105298 [GRCh38]
Chr19:11215974 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372631]|Familial hypercholesterolemia [RCV001193789]|Hypercholesterolemia, familial, 1 [RCV000237389]|not provided [RCV000161956] |
Chr19:11105315 [GRCh38]
Chr19:11215991 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.410G>T (p.Gly137Val) |
single nucleotide variant |
not provided [RCV000161957] |
Chr19:11105316 [GRCh38]
Chr19:11215992 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345556]|Familial hypercholesterolemia [RCV001181335]|Hypercholesterolemia, familial, 1 [RCV000237262]|not provided [RCV000161959] |
Chr19:11105448 [GRCh38]
Chr19:11216124 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.545A>G (p.Gln182Arg) |
single nucleotide variant |
not provided [RCV000161960] |
Chr19:11105451 [GRCh38]
Chr19:11216127 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354407]|Familial hypercholesterolemia [RCV003581581]|Hypercholesterolemia, familial, 1 [RCV000211695]|not provided [RCV000161961] |
Chr19:11105495 [GRCh38]
Chr19:11216171 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.662A>G (p.Asp221Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362854]|Familial hypercholesterolemia [RCV000771313]|Homozygous familial hypercholesterolemia [RCV000844743]|Hypercholesterolemia, familial, 1 [RCV000211655]|not provided [RCV000161962] |
Chr19:11105568 [GRCh38]
Chr19:11216244 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362855]|Hypercholesterolemia, familial, 1 [RCV000238340]|not provided [RCV000161963] |
Chr19:11105571 [GRCh38]
Chr19:11216247 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|not provided |
| NM_000527.5(LDLR):c.770_771delinsAC (p.Arg257His) |
indel |
Hypercholesterolemia, familial, 1 [RCV002505197]|not provided [RCV000161964] |
Chr19:11106640..11106641 [GRCh38]
Chr19:11217316..11217317 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.790A>C (p.Met264Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191080]|Hypercholesterolemia, familial, 1 [RCV003998536]|not provided [RCV000161965] |
Chr19:11106660 [GRCh38]
Chr19:11217336 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.827G>C (p.Cys276Ser) |
single nucleotide variant |
not provided [RCV000161967] |
Chr19:11107401 [GRCh38]
Chr19:11218077 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.829G>A (p.Glu277Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426795]|Familial hypercholesterolemia [RCV000776470]|Hypercholesterolemia, familial, 1 [RCV000210246]|LDLR-related condition [RCV003927530]|not provided [RCV000161968]|not specified [RCV000610848] |
Chr19:11107403 [GRCh38]
Chr19:11218079 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444669]|Familial hypercholesterolemia [RCV003741152]|Hypercholesterolemia, familial, 1 [RCV000238570]|not provided [RCV000161969] |
Chr19:11107420 [GRCh38]
Chr19:11218096 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.853C>T (p.His285Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176039]|Hypercholesterolemia, familial, 1 [RCV000497066]|not provided [RCV000161970] |
Chr19:11107427 [GRCh38]
Chr19:11218103 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.892A>G (p.Met298Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444670]|Hypercholesterolemia, familial, 1 [RCV003998537]|not provided [RCV000161971] |
Chr19:11107466 [GRCh38]
Chr19:11218142 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.908G>A (p.Arg303Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372046]|Familial hypercholesterolemia [RCV001179371]|Hypercholesterolemia, familial, 1 [RCV002279949]|not provided [RCV000161972] |
Chr19:11107482 [GRCh38]
Chr19:11218158 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372047]|Familial hypercholesterolemia [RCV001185251]|Hypercholesterolemia, familial, 1 [RCV000238096]|not provided [RCV000161973]|not specified [RCV000455406] |
Chr19:11107514 [GRCh38]
Chr19:11218190 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176041]|Hypercholesterolemia, familial, 1 [RCV000237335]|not provided [RCV000161974] |
Chr19:11110658 [GRCh38]
Chr19:11221334 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.988A>C (p.Asn330His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179373]|Hypercholesterolemia, familial, 1 [RCV003998538]|not provided [RCV000161975] |
Chr19:11110699 [GRCh38]
Chr19:11221375 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399588]|Familial hypercholesterolemia [RCV001201392]|Homozygous familial hypercholesterolemia [RCV000215066]|Hypercholesterolemia, familial, 1 [RCV000238015]|not provided [RCV000161976] |
Chr19:11110714 [GRCh38]
Chr19:11221390 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381528]|Familial hypercholesterolemia [RCV000587327]|Homozygous familial hypercholesterolemia [RCV000844735]|Hypercholesterolemia, familial, 1 [RCV000211596]|not provided [RCV000161977] |
Chr19:11110738 [GRCh38]
Chr19:11221414 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.5(LDLR):c.1105G>A (p.Val369Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179374]|Hypercholesterolemia, familial, 1 [RCV002485006]|not provided [RCV000161979] |
Chr19:11111558 [GRCh38]
Chr19:11222234 [GRCh37]
Chr19:19p13.2 |
uncertain significance|not provided |
| NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162682]|Familial hypercholesterolemia [RCV001034680]|Hypercholesterolemia, familial, 1 [RCV000238222]|LDLR-related condition [RCV003422054]|not provided [RCV000161980] |
Chr19:11111586 [GRCh38]
Chr19:11222262 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336376]|Familial hypercholesterolemia [RCV001211912]|Hypercholesterolemia, familial, 1 [RCV000237472]|not provided [RCV000161981]|not specified [RCV001800473] |
Chr19:11113286 [GRCh38]
Chr19:11223962 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390392]|Familial hypercholesterolemia [RCV000586690]|Homozygous familial hypercholesterolemia [RCV000825619]|Hypercholesterolemia, familial, 1 [RCV000211633]|not provided [RCV000161982] |
Chr19:11113337 [GRCh38]
Chr19:11224013 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000527.4(LDLR):c.1690A>C (p.Asn564His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408915]|Familial hypercholesterolemia [RCV001034619]|Hypercholesterolemia, familial, 1 [RCV000211626]|not provided [RCV001699069]|not specified [RCV001553638] |
Chr19:11116197 [GRCh38]
Chr19:11226873 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336450]|Familial hypercholesterolemia [RCV000589737]|Homozygous familial hypercholesterolemia [RCV000825616]|Hypercholesterolemia [RCV002287383]|Hypercholesterolemia, familial, 1 [RCV000211619]|not provided [RCV000786348] |
Chr19:11105407 [GRCh38]
Chr19:11216083 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354478]|Familial hypercholesterolemia [RCV000589041]|Homozygous familial hypercholesterolemia [RCV000826174]|Hypercholesterolemia, familial, 1 [RCV000237811]|not provided [RCV001283997] |
Chr19:11105496 [GRCh38]
Chr19:11216172 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372113]|Familial hypercholesterolemia [RCV000586018]|Homozygous familial hypercholesterolemia [RCV000826173]|Hypercholesterolemia, familial, 1 [RCV000211564]|not provided [RCV000182341] |
Chr19:11106588 [GRCh38]
Chr19:11217264 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399654]|Familial hypercholesterolemia [RCV000771547]|Homozygous familial hypercholesterolemia [RCV000825621]|Hypercholesterolemia, familial, 1 [RCV000211604]|not provided [RCV000182342] |
Chr19:11116900 [GRCh38]
Chr19:11227576 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408795]|Familial hypercholesterolemia [RCV001852309]|Hypercholesterolemia, familial, 1 [RCV000238444]|not provided [RCV002054165] |
Chr19:11120162 [GRCh38]
Chr19:11230838 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415774]|Familial hypercholesterolemia [RCV000775087]|Hypercholesterolemia, familial, 1 [RCV000238290]|not provided [RCV003477646]|not specified [RCV000182344] |
Chr19:11120480 [GRCh38]
Chr19:11231156 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.178C>T (p.Gln60Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508783] |
Chr19:11100333 [GRCh38]
Chr19:11211009 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1413A>G (p.Arg471=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390458]|Familial hypercholesterolemia [RCV001275279]|Hypercholesterolemia, familial, 1 [RCV000237328]|not provided [RCV001812170]|not specified [RCV000182337] |
Chr19:11113589 [GRCh38]
Chr19:11224265 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1773C>T (p.Asn591=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399653]|Familial hypercholesterolemia [RCV001275781]|Hypercholesterolemia, familial, 1 [RCV000237654]|not provided [RCV001812171]|not specified [RCV000182338] |
Chr19:11116926 [GRCh38]
Chr19:11227602 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363059]|Familial hypercholesterolemia [RCV000589867]|Homozygous familial hypercholesterolemia [RCV000825617]|Hypercholesterolemia, familial, 1 [RCV000211631]|not provided [RCV000518828] |
Chr19:11105588 [GRCh38]
Chr19:11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.1587-?_2140+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211632] |
Chr19:11226769..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444846]|Familial hypercholesterolemia [RCV000819308]|Hypercholesterolemia, familial, 1 [RCV000211634]|not provided [RCV003165521] |
Chr19:11102777 [GRCh38]
Chr19:11213453 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1845+915_2141-498del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211637] |
Chr19:11117893..11122656 [GRCh38]
Chr19:11228569..11233332 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.1187-?_1586+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211638] |
Chr19:11223953..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-206C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211641] |
Chr19:11089343 [GRCh38]
Chr19:11200019 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.191-?_1186+?dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000211643] |
Chr19:11213339..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1706-10G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002399781]|Familial hypercholesterolemia [RCV000771093]|Hypercholesterolemia, familial, 1 [RCV000211645]|not provided [RCV000759075]|not specified [RCV000455738] |
Chr19:11116849 [GRCh38]
Chr19:11227525 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.564C>T (p.Tyr188=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347822]|Familial hypercholesterolemia [RCV000858875]|Hypercholesterolemia, familial, 1 [RCV000211646]|LDLR-related condition [RCV003947692]|not provided [RCV003326374]|not specified [RCV000590562] |
Chr19:11105470 [GRCh38]
Chr19:11216146 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.191-2A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002408913]|Familial hypercholesterolemia [RCV000799814]|Hypercholesterolemia, familial, 1 [RCV000211652]|not provided [RCV001699013] |
Chr19:11102662 [GRCh38]
Chr19:11213338 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444847]|Familial hypercholesterolemia [RCV000820331]|Hypercholesterolemia, familial, 1 [RCV000211658]|not provided [RCV000521830] |
Chr19:11105232 [GRCh38]
Chr19:11215908 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.314-?_1060+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211663] |
Chr19:11215895..11221447 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399777]|Familial hypercholesterolemia [RCV001177035]|Hypercholesterolemia, familial, 1 [RCV000211664]|not provided [RCV003477712] |
Chr19:11113722 [GRCh38]
Chr19:11224398 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381726]|Familial hypercholesterolemia [RCV001293738]|Hypercholesterolemia, familial, 1 [RCV000211666]|not provided [RCV001812218] |
Chr19:11110697 [GRCh38]
Chr19:11221373 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415889]|Familial hypercholesterolemia [RCV000791370]|Homozygous familial hypercholesterolemia [RCV004017508]|Hypercholesterolemia, familial, 1 [RCV000211671]|not provided [RCV001843494] |
Chr19:11120411 [GRCh38]
Chr19:11231087 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408916]|Familial hypercholesterolemia [RCV003581586]|Hypercholesterolemia, familial, 1 [RCV000211673] |
Chr19:11116201 [GRCh38]
Chr19:11226877 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426991]|Familial hypercholesterolemia [RCV002229194]|Homozygous familial hypercholesterolemia [RCV000844733]|Hypercholesterolemia, familial, 1 [RCV000211676]|LDLR-related condition [RCV003417768] |
Chr19:11102742 [GRCh38]
Chr19:11213418 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.1587-?_1845+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211679] |
Chr19:11226769..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1885T>G (p.Phe629Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211680] |
Chr19:11120131 [GRCh38]
Chr19:11230807 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372215]|Familial hypercholesterolemia [RCV001179372]|Hypercholesterolemia, familial, 1 [RCV000211683]|not provided [RCV000786353] |
Chr19:11107491 [GRCh38]
Chr19:11218167 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.2141-?_2311+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211685] |
Chr19:11233849..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.2390-?_2547+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211686] |
Chr19:11240188..11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.-121T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775225]|Hypercholesterolemia, familial, 1 [RCV000211691]|LDLR-related condition [RCV003401126]|not provided [RCV002223821] |
Chr19:11089428 [GRCh38]
Chr19:11200104 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399775]|Familial hypercholesterolemia [RCV000771543]|Homozygous familial hypercholesterolemia [RCV004017504]|Hypercholesterolemia, autosomal dominant, type B [RCV003388576]|Hypercholesterolemia, familial, 1 [RCV000211692]|See cases [RCV003128397]|not provided [RCV000520229] |
Chr19:11110759 [GRCh38]
Chr19:11221435 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.314-?_694+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211693] |
Chr19:11215895..11216277 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) |
microsatellite |
Cardiovascular phenotype [RCV002390558]|Familial hypercholesterolemia [RCV000780377]|Hypercholesterolemia, familial, 1 [RCV000208069]|LDLR-related condition [RCV003401115]|not provided [RCV000522258] |
Chr19:11113652..11113653 [GRCh38]
Chr19:11224328..11224329 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) |
deletion |
Familial hypercholesterolemia [RCV001853308]|Hypercholesterolemia, familial, 1 [RCV000208323] |
Chr19:11113661..11113662 [GRCh38]
Chr19:11224338..11224339 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2344A>T (p.Lys782Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020586]|Hypercholesterolemia, familial, 1 [RCV000211559] |
Chr19:11128040 [GRCh38]
Chr19:11238716 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183445]|Hypercholesterolemia, familial, 1 [RCV000211565] |
Chr19:11113731 [GRCh38]
Chr19:11224407 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2140G>C (p.Glu714Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211696] |
Chr19:11120522 [GRCh38]
Chr19:11231198 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408914]|Familial hypercholesterolemia [RCV001853401]|Hypercholesterolemia, familial, 1 [RCV000211697] |
Chr19:11111519 [GRCh38]
Chr19:11222195 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776247]|Hypercholesterolemia, familial, 1 [RCV000211700]|not provided [RCV001284645]|not specified [RCV004017509] |
Chr19:11123322 [GRCh38]
Chr19:11233998 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372212]|Familial hypercholesterolemia [RCV000775036]|Homozygous familial hypercholesterolemia [RCV000844756]|Hypercholesterolemia, familial, 1 [RCV000211566]|not provided [RCV000494460] |
Chr19:11105306 [GRCh38]
Chr19:11215982 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.196_197del (p.Val66fs) |
deletion |
Familial hypercholesterolemia [RCV000775025]|Hypercholesterolemia, familial, 1 [RCV000211570] |
Chr19:11102668..11102669 [GRCh38]
Chr19:11213345..11213346 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003488470]|Hypercholesterolemia, familial, 1 [RCV000211573] |
Chr19:11116192 [GRCh38]
Chr19:11226868 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1162del (p.His388fs) |
deletion |
Familial hypercholesterolemia [RCV001217617]|Hypercholesterolemia, familial, 1 [RCV000211574] |
Chr19:11111611 [GRCh38]
Chr19:11222287 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.246C>A (p.Cys82Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211576] |
Chr19:11102719 [GRCh38]
Chr19:11213395 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1705+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002408917]|Familial hypercholesterolemia [RCV001034672]|Homozygous familial hypercholesterolemia [RCV000825623]|Hypercholesterolemia, familial, 1 [RCV000211580]|LDLR-related condition [RCV003417769] |
Chr19:11116213 [GRCh38]
Chr19:11226889 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1731G>A (p.Trp577Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229199]|Hypercholesterolemia, familial, 1 [RCV000211585] |
Chr19:11116884 [GRCh38]
Chr19:11227560 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer) |
duplication |
Familial hypercholesterolemia [RCV002515609]|Hypercholesterolemia, familial, 1 [RCV000211587] |
Chr19:11107479..11107480 [GRCh38]
Chr19:11218155..11218156 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415887]|Familial hypercholesterolemia [RCV000775082]|Hypercholesterolemia, familial, 1 [RCV000211590] |
Chr19:11120201 [GRCh38]
Chr19:11230877 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) |
indel |
Cardiovascular phenotype [RCV002372216]|Familial hypercholesterolemia [RCV001804946]|Hypercholesterolemia, familial, 1 [RCV000211591]|LDLR-related condition [RCV003407738]|not provided [RCV000493281] |
Chr19:11107512..11107513 [GRCh38]
Chr19:11218188..11218189 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-140C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211592]|LDLR-related condition [RCV003401125] |
Chr19:11089409 [GRCh38]
Chr19:11200085 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001853404]|Hypercholesterolemia, familial, 1 [RCV000211595] |
Chr19:11120412 [GRCh38]
Chr19:11231088 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399776]|Familial hypercholesterolemia [RCV001183695]|Hypercholesterolemia, familial, 1 [RCV000211597]|not provided [RCV002259322] |
Chr19:11110760 [GRCh38]
Chr19:11221436 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.648dup (p.Asp217Ter) |
duplication |
Familial hypercholesterolemia [RCV001389664]|Hypercholesterolemia, familial, 1 [RCV000211601]|not provided [RCV001256904] |
Chr19:11105553..11105554 [GRCh38]
Chr19:11216230 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2149G>A (p.Ala717Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211602] |
Chr19:11123182 [GRCh38]
Chr19:11233858 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415886]|Familial hypercholesterolemia [RCV001853402]|Hypercholesterolemia, familial, 1 [RCV000211603] |
Chr19:11111526 [GRCh38]
Chr19:11222202 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372213]|Familial hypercholesterolemia [RCV000791440]|Hypercholesterolemia, familial, 1 [RCV000211605]|not provided [RCV001596987] |
Chr19:11105567 [GRCh38]
Chr19:11216243 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2292del (p.Ile764fs) |
deletion |
Cardiovascular phenotype [RCV002444849]|Familial hypercholesterolemia [RCV000811884]|Hypercholesterolemia, familial, 1 [RCV000211606] |
Chr19:11123325 [GRCh38]
Chr19:11234001 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.313_313+1del |
deletion |
Familial hypercholesterolemia [RCV001249011]|Homozygous familial hypercholesterolemia [RCV004017501]|Hypercholesterolemia, familial, 1 [RCV000211607]|not provided [RCV002469073] |
Chr19:11102786..11102787 [GRCh38]
Chr19:11213462..11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.318del (p.Lys107fs) |
deletion |
Familial hypercholesterolemia [RCV001215104]|Hypercholesterolemia, familial, 1 [RCV000211608] |
Chr19:11105220 [GRCh38]
Chr19:11215896 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1469G>T (p.Trp490Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211612] |
Chr19:11113645 [GRCh38]
Chr19:11224321 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211614] |
Chr19:11120126 [GRCh38]
Chr19:11230802 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001037156]|Homozygous familial hypercholesterolemia [RCV004017503]|Hypercholesterolemia, familial, 1 [RCV000211615]|not provided [RCV002255136] |
Chr19:11106666 [GRCh38]
Chr19:11217342 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372214]|Familial hypercholesterolemia [RCV000781500]|Homozygous familial hypercholesterolemia [RCV000826177]|Hypercholesterolemia, familial, 1 [RCV000211616]|not provided [RCV001552501] |
Chr19:11107486 [GRCh38]
Chr19:11218162 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426990]|Hypercholesterolemia, familial, 1 [RCV000211622] |
Chr19:11102697 [GRCh38]
Chr19:11213373 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581585]|Hypercholesterolemia, familial, 1 [RCV000211630] |
Chr19:11102724 [GRCh38]
Chr19:11213400 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211635]|not provided [RCV000497836] |
Chr19:11113421 [GRCh38]
Chr19:11224097 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1371_1374dup (p.Ala459fs) |
duplication |
Familial hypercholesterolemia [RCV002229198]|Hypercholesterolemia, familial, 1 [RCV000211639] |
Chr19:11113544..11113545 [GRCh38]
Chr19:11224223..11224226 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2027del (p.Gly676fs) |
deletion |
Cardiovascular phenotype [RCV002415888]|Hypercholesterolemia, familial, 1 [RCV000211640]|not provided [RCV001843946] |
Chr19:11120408 [GRCh38]
Chr19:11231084 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229197]|Homozygous familial hypercholesterolemia [RCV000826175]|Hypercholesterolemia, familial, 1 [RCV000211642]|not provided [RCV002223822] |
Chr19:11107512 [GRCh38]
Chr19:11218188 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390566]|Familial hypercholesterolemia [RCV001260435]|Hypercholesterolemia, familial, 1 [RCV000211644] |
Chr19:11110744 [GRCh38]
Chr19:11221420 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) |
microsatellite |
Cardiovascular phenotype [RCV002363056]|Familial hypercholesterolemia [RCV000589051]|Homozygous familial hypercholesterolemia [RCV004017502]|Hypercholesterolemia, familial, 1 [RCV000211647]|not provided [RCV000489033] |
Chr19:11105557..11105559 [GRCh38]
Chr19:11216233..11216235 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211648] |
Chr19:11116888 [GRCh38]
Chr19:11227564 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000780382]|Homozygous familial hypercholesterolemia [RCV004017500]|Hypercholesterolemia, familial, 1 [RCV000211649] |
Chr19:11102739 [GRCh38]
Chr19:11213415 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2271del (p.Leu759fs) |
deletion |
Cardiovascular phenotype [RCV002444848]|Familial hypercholesterolemia [RCV001193182]|Hypercholesterolemia, familial, 1 [RCV000211650]|not provided [RCV000493493] |
Chr19:11123304 [GRCh38]
Chr19:11233980 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) |
duplication |
Cardiovascular phenotype [RCV002433922]|Familial hypercholesterolemia [RCV000588024]|Homozygous familial hypercholesterolemia [RCV000825618]|Hypercholesterolemia, familial, 1 [RCV000211651]|not provided [RCV002284377] |
Chr19:11111568..11111569 [GRCh38]
Chr19:11222247..11222250 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336590]|Familial hypercholesterolemia [RCV001249013]|Hypercholesterolemia, familial, 1 [RCV000211653] |
Chr19:11113287 [GRCh38]
Chr19:11223963 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2312-3C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002426992]|Familial hypercholesterolemia [RCV000586092]|Hypercholesterolemia, familial, 1 [RCV000211656]|not provided [RCV001553274] |
Chr19:11128005 [GRCh38]
Chr19:11238681 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del) |
deletion |
Cardiovascular phenotype [RCV002444850]|Familial hypercholesterolemia [RCV001034620]|Hypercholesterolemia, familial, 1 [RCV000211657]|not provided [RCV001529505]|not specified [RCV001553637] |
Chr19:11129516..11129524 [GRCh38]
Chr19:11240196..11240204 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020585]|Hypercholesterolemia, familial, 1 [RCV000211659] |
Chr19:11116967 [GRCh38]
Chr19:11227643 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188071]|Hypercholesterolemia, familial, 1 [RCV000211660] |
Chr19:11120106 [GRCh38]
Chr19:11230782 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.6del (p.Trp4fs) |
deletion |
Cardiovascular phenotype [RCV002363055]|Familial hypercholesterolemia [RCV000776171]|Hypercholesterolemia, familial, 1 [RCV000211661]|not provided [RCV001578126] |
Chr19:11089551 [GRCh38]
Chr19:11200227 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020584]|Familial hypercholesterolemia [RCV001049393]|Hypercholesterolemia, familial, 1 [RCV000211662] |
Chr19:11113624 [GRCh38]
Chr19:11224300 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.373C>A (p.Gln125Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211665]|not provided [RCV002517449] |
Chr19:11105279 [GRCh38]
Chr19:11215955 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399778]|Familial hypercholesterolemia [RCV001034676]|Hypercholesterolemia, familial, 1 [RCV000211668] |
Chr19:11116095 [GRCh38]
Chr19:11226771 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.533A>T (p.Asp178Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211674] |
Chr19:11105439 [GRCh38]
Chr19:11216115 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211675] |
Chr19:11102726 [GRCh38]
Chr19:11213402 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1715_1719delinsA (p.Ser572fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000211678] |
Chr19:11116868..11116872 [GRCh38]
Chr19:11227544..11227548 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1954_1955del (p.Met652fs) |
microsatellite |
Familial hypercholesterolemia [RCV002229200]|Hypercholesterolemia, familial, 1 [RCV000211682] |
Chr19:11120198..11120199 [GRCh38]
Chr19:11230874..11230875 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.427T>G (p.Cys143Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001853400]|Hypercholesterolemia, familial, 1 [RCV000211684] |
Chr19:11105333 [GRCh38]
Chr19:11216009 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.313+2dup |
duplication |
Cardiovascular phenotype [RCV002321828]|Familial hypercholesterolemia [RCV001054512]|Hypercholesterolemia, familial, 1 [RCV000211687] |
Chr19:11102787..11102788 [GRCh38]
Chr19:11213464 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1469G>A (p.Trp490Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001389977]|Hypercholesterolemia, familial, 1 [RCV000211689] |
Chr19:11113645 [GRCh38]
Chr19:11224321 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.940+2T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000211690] |
Chr19:11107516 [GRCh38]
Chr19:11218192 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399782]|Familial hypercholesterolemia [RCV000775075]|Hypercholesterolemia, familial, 1 [RCV000211698]|not provided [RCV002223823] |
Chr19:11116898 [GRCh38]
Chr19:11227574 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.660del (p.Asp221fs) |
deletion |
Cardiovascular phenotype [RCV002363057]|Familial hypercholesterolemia [RCV000824495]|Hypercholesterolemia, familial, 1 [RCV000211699]|not provided [RCV003235135] |
Chr19:11105563 [GRCh38]
Chr19:11216239 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001046101]|Hypercholesterolemia, familial, 1 [RCV000211701] |
Chr19:11102784 [GRCh38]
Chr19:11213460 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1776_1778del (p.Gly593del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000211702] |
Chr19:11116927..11116929 [GRCh38]
Chr19:11227605..11227607 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-120C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002354590]|Familial hypercholesterolemia [RCV001190436]|Hypercholesterolemia, familial, 1 [RCV000211703]|not provided [RCV003223624] |
Chr19:11089429 [GRCh38]
Chr19:11200105 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1060+10G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002408921]|Familial hypercholesterolemia [RCV001275276]|Hypercholesterolemia, familial, 1 [RCV000237221]|not provided [RCV001812221]|not specified [RCV000213292] |
Chr19:11110781 [GRCh38]
Chr19:11221457 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.190+4A>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002408912]|Familial hypercholesterolemia [RCV000771311]|Homozygous familial hypercholesterolemia [RCV004017496]|Hypercholesterolemia, familial, 1 [RCV000211667]|not provided [RCV000523458] |
Chr19:11100349 [GRCh38]
Chr19:11211025 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741160]|Hypercholesterolemia, familial, 1 [RCV000210827] |
Chr19:11110715 [GRCh38]
Chr19:11221391 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181607]|Hypercholesterolemia, familial, 1 [RCV000210833] |
Chr19:11113343 [GRCh38]
Chr19:11224019 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.355G>A (p.Gly119Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002517439]|Hypercholesterolemia, familial, 1 [RCV000210835] |
Chr19:11105261 [GRCh38]
Chr19:11215937 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426986]|Familial hypercholesterolemia [RCV002229190]|Hypercholesterolemia, familial, 1 [RCV000210844]|not provided [RCV000523095] |
Chr19:11120522 [GRCh38]
Chr19:11231198 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.313+1G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002321838]|Familial hypercholesterolemia [RCV001249083]|Homozygous familial hypercholesterolemia [RCV000844754]|Hypercholesterolemia, familial, 1 [RCV000213674]|LDLR-related condition [RCV003401129]|not provided [RCV001699015] |
Chr19:11102787 [GRCh38]
Chr19:11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.660_661insTG (p.Asp221fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000210842] |
Chr19:11105566..11105567 [GRCh38]
Chr19:11216242..11216243 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1043C>T (p.Ala348Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001564009] |
Chr19:11110754 [GRCh38]
Chr19:11221430 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1060+7= |
single nucleotide variant |
Familial hypercholesterolemia [RCV001520673]|Hypercholesterolemia, familial, 1 [RCV000256309]|not provided [RCV000712212]|not specified [RCV000218339] |
Chr19:11110778 [GRCh38]
Chr19:11221454 [GRCh37]
Chr19:19p13.2 |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV001450037] |
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1428dup (p.Asp477fs) |
duplication |
Cardiovascular phenotype [RCV002390577]|Familial hypercholesterolemia [RCV002229538]|Homozygous familial hypercholesterolemia [RCV000844729]|Hypercholesterolemia, familial, 1 [RCV000216563]|not provided [RCV002305464] |
Chr19:11113599..11113600 [GRCh38]
Chr19:11224280 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002354607]|Familial hypercholesterolemia [RCV001381623]|Hypercholesterolemia, familial, 1 [RCV000238261]|not provided [RCV003325470]|not specified [RCV000223047] |
Chr19:11113308 [GRCh38]
Chr19:11223984 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1194C>T (p.Ile398=) |
single nucleotide variant |
Autosomal dominant familial hypercholesterolemia [RCV001272182]|Cardiovascular phenotype [RCV002336587]|Familial hypercholesterolemia [RCV000858408]|Hypercholesterolemia, familial, 1 [RCV000210233]|not provided [RCV001723783]|not specified [RCV001699012] |
Chr19:11113285 [GRCh38]
Chr19:11223961 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408910]|Familial hypercholesterolemia [RCV001201346]|Hypercholesterolemia, familial, 1 [RCV000210237]|not provided [RCV001800536] |
Chr19:11116198 [GRCh38]
Chr19:11226874 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190232]|Hypercholesterolemia, familial, 1 [RCV000211593] |
Chr19:11105414 [GRCh38]
Chr19:11216090 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1836C>T (p.Ala612=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408911]|Familial hypercholesterolemia [RCV000771188]|Hypercholesterolemia, familial, 1 [RCV000210239]|LDLR-related condition [RCV003927891]|not provided [RCV001705182]|not specified [RCV000456101] |
Chr19:11116989 [GRCh38]
Chr19:11227665 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.941-4G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002372208]|Familial hypercholesterolemia [RCV000771133]|Hypercholesterolemia, familial, 1 [RCV000210248]|not provided [RCV001706207]|not specified [RCV000736080] |
Chr19:11110648 [GRCh38]
Chr19:11221324 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.67+18C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002365168]|Familial hypercholesterolemia [RCV001519057]|Hypercholesterolemia, familial, 1 [RCV000581526]|not provided [RCV000224100]|not specified [RCV000616083] |
Chr19:11089633 [GRCh38]
Chr19:11200309 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1920C>T (p.Asn640=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408958]|Familial hypercholesterolemia [RCV000858146]|Hypercholesterolemia, familial, 1 [RCV000231947]|not provided [RCV001531890]|not specified [RCV000419458] |
Chr19:11120166 [GRCh38]
Chr19:11230842 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1887C>T (p.Phe629=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408957]|Familial hypercholesterolemia [RCV000859080]|Hypercholesterolemia, familial, 1 [RCV000225826]|not specified [RCV001192513] |
Chr19:11120133 [GRCh38]
Chr19:11230809 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.585C>A (p.Ser195Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001298448] |
Chr19:11105491 [GRCh38]
Chr19:11216167 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.166T>C (p.Ser56Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229339]|Hypercholesterolemia, familial, 1 [RCV000228737] |
Chr19:11100321 [GRCh38]
Chr19:11210997 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.379del (p.Val127fs) |
deletion |
Familial hypercholesterolemia [RCV001382356]|Hypercholesterolemia, familial, 1 [RCV000229645] |
Chr19:11105285 [GRCh38]
Chr19:11215961 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001376907]|Hypercholesterolemia, familial, 1 [RCV000231049]|LDLR-related condition [RCV003422135] |
Chr19:11113762 [GRCh38]
Chr19:11224438 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450673]|Familial hypercholesterolemia [RCV001273281]|Hypercholesterolemia, familial, 1 [RCV002494626]|not provided [RCV002478838] |
Chr19:11105258 [GRCh38]
Chr19:11215934 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450672]|Familial hypercholesterolemia [RCV000791453]|Homozygous familial hypercholesterolemia [RCV001195308]|Hypercholesterolemia, familial, 1 [RCV000232879]|not provided [RCV001284647] |
Chr19:11105243 [GRCh38]
Chr19:11215919 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.-188C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001828107]|Hypercholesterolemia, familial, 1 [RCV000231228]|not provided [RCV003128607] |
Chr19:11089361 [GRCh38]
Chr19:11200037 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1706-2A>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229340]|Hypercholesterolemia, familial, 1 [RCV000231584] |
Chr19:11116857 [GRCh38]
Chr19:11227533 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000791411]|Hypercholesterolemia, familial, 1 [RCV000227275] |
Chr19:11089560 [GRCh38]
Chr19:11200236 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1974C>T (p.Leu658=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000234301]|Hypercholesterolemia, familial, 1 [RCV003998784]|not provided [RCV003456382] |
Chr19:11120220 [GRCh38]
Chr19:11230896 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2551_2554del (p.Gln851fs) |
deletion |
Familial hypercholesterolemia [RCV001323806]|Hypercholesterolemia, familial, 1 [RCV000233418] |
Chr19:11131281..11131284 [GRCh38]
Chr19:11241957..11241960 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis) |
deletion |
Familial hypercholesterolemia [RCV001337839]|Hypercholesterolemia, familial, 1 [RCV000233954] |
Chr19:11111550..11111561 [GRCh38]
Chr19:11222226..11222237 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001339707]|Hypercholesterolemia, familial, 1 [RCV000228158] |
Chr19:11116874 [GRCh38]
Chr19:11227550 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411099]|Familial hypercholesterolemia [RCV000775248]|Hypercholesterolemia, familial, 1 [RCV000237143]|not provided [RCV003480570] |
Chr19:11120106 [GRCh38]
Chr19:11230782 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519845]|Hypercholesterolemia, familial, 1 [RCV000237144] |
Chr19:11111603 [GRCh38]
Chr19:11222279 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(940+1_941-1)_(1586+1_1587-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237145] |
Chr19:11221327..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.501C>G (p.Cys167Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237146] |
Chr19:11105407 [GRCh38]
Chr19:11216083 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.318dup (p.Lys107fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237147] |
Chr19:11105219..11105220 [GRCh38]
Chr19:11215900 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446473]|Familial hypercholesterolemia [RCV000590088]|Hypercholesterolemia, familial, 1 [RCV000237148]|not provided [RCV000985771] |
Chr19:11107432 [GRCh38]
Chr19:11218108 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518474]|Hypercholesterolemia, familial, 1 [RCV000237149] |
Chr19:11102757 [GRCh38]
Chr19:11213433 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1845+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002411097]|Familial hypercholesterolemia [RCV000819649]|Hypercholesterolemia, familial, 1 [RCV000237150] |
Chr19:11117000 [GRCh38]
Chr19:11227676 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1012T>C (p.Cys338Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237151] |
Chr19:11110723 [GRCh38]
Chr19:11221399 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581618]|Hypercholesterolemia, familial, 1 [RCV000237152] |
Chr19:11113338 [GRCh38]
Chr19:11224014 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356334]|Familial hypercholesterolemia [RCV000791421]|Hypercholesterolemia, familial, 1 [RCV000237153] |
Chr19:11105553 [GRCh38]
Chr19:11216229 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237154] |
Chr19:11116108 [GRCh38]
Chr19:11226784 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1102T>G (p.Cys368Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237155] |
Chr19:11111555 [GRCh38]
Chr19:11222231 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| c.(?_-187)_(2311+1_2312-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237156] |
Chr19:11200038..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1463T>G (p.Ile488Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237157] |
Chr19:11113639 [GRCh38]
Chr19:11224315 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000586410]|Hypercholesterolemia, familial, 1 [RCV000237158] |
Chr19:11105528 [GRCh38]
Chr19:11216204 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2547+5G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237159] |
Chr19:11129675 [GRCh38]
Chr19:11240351 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.338_353del (p.Glu113fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237160] |
Chr19:11105244..11105259 [GRCh38]
Chr19:11215920..11215935 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020950]|Familial hypercholesterolemia [RCV000587092]|Hypercholesterolemia, familial, 1 [RCV000237161]|not provided [RCV003477847] |
Chr19:11105423 [GRCh38]
Chr19:11216099 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2050_2063del (p.Ala684fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237162] |
Chr19:11120432..11120445 [GRCh38]
Chr19:11231108..11231121 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.760C>T (p.Gln254Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237163] |
Chr19:11106630 [GRCh38]
Chr19:11217306 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1186+1_1187-1)_(2140+1_2141-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237164] |
Chr19:11223953..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.675_689del (p.Lys225_Glu229del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237165] |
Chr19:11105579..11105593 [GRCh38]
Chr19:11216257..11216271 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2389+1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002450746]|Familial hypercholesterolemia [RCV002518499]|Hypercholesterolemia, familial, 1 [RCV000237166] |
Chr19:11128086 [GRCh38]
Chr19:11238762 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237167] |
Chr19:11120206 [GRCh38]
Chr19:11230882 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327171]|Familial hypercholesterolemia [RCV001201387]|Homozygous familial hypercholesterolemia [RCV004017543]|Hypercholesterolemia, familial, 1 [RCV000237168]|not provided [RCV002461040] |
Chr19:11105326 [GRCh38]
Chr19:11216002 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1359-30C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002379067]|Familial hypercholesterolemia [RCV001183729]|Hypercholesterolemia, familial, 1 [RCV000237169]|not provided [RCV001729480]|not specified [RCV001726071] |
Chr19:11113505 [GRCh38]
Chr19:11224181 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.940+1G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237170] |
Chr19:11107515 [GRCh38]
Chr19:11218191 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1705+1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237171] |
Chr19:11116213 [GRCh38]
Chr19:11226889 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.887G>C (p.Cys296Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854892]|Hypercholesterolemia, familial, 1 [RCV000237172] |
Chr19:11107461 [GRCh38]
Chr19:11218137 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2175del (p.Thr726fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237173] |
Chr19:11123207 [GRCh38]
Chr19:11233883 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1586+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002401938]|Familial hypercholesterolemia [RCV001044315]|Homozygous familial hypercholesterolemia [RCV004017559]|Hypercholesterolemia, familial, 1 [RCV000237174]|not provided [RCV000587894] |
Chr19:11113767 [GRCh38]
Chr19:11224443 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1042del (p.Ala348fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237175] |
Chr19:11110752 [GRCh38]
Chr19:11221428 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.344G>A (p.Arg115His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002460059]|Familial hypercholesterolemia [RCV000771221]|Hypercholesterolemia, familial, 1 [RCV000237176]|not provided [RCV001788071] |
Chr19:11105250 [GRCh38]
Chr19:11215926 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1359-4T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237177] |
Chr19:11113531 [GRCh38]
Chr19:11224207 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.752dup (p.Ser252fs) |
duplication |
Familial hypercholesterolemia [RCV001857825]|Hypercholesterolemia, familial, 1 [RCV000237178] |
Chr19:11106620..11106621 [GRCh38]
Chr19:11217298 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237179] |
Chr19:11129669 [GRCh38]
Chr19:11240345 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1752del (p.Ile585fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237180] |
Chr19:11116904 [GRCh38]
Chr19:11227580 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.260G>A (p.Trp87Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237181] |
Chr19:11102733 [GRCh38]
Chr19:11213409 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237182] |
Chr19:11120211 [GRCh38]
Chr19:11230887 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-136C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581590]|Hypercholesterolemia, familial, 1 [RCV000237183] |
Chr19:11089413 [GRCh38]
Chr19:11200089 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1377_1380del (p.His460fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237184] |
Chr19:11113552..11113555 [GRCh38]
Chr19:11224229..11224232 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1858T>C (p.Trp620Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237185] |
Chr19:11120104 [GRCh38]
Chr19:11230780 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1186+1G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237186] |
Chr19:11111640 [GRCh38]
Chr19:11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.77_78del (p.Arg26fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237187] |
Chr19:11100231..11100232 [GRCh38]
Chr19:11210908..11210909 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1492G>T (p.Val498Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237188] |
Chr19:11113668 [GRCh38]
Chr19:11224344 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411084]|Familial hypercholesterolemia [RCV000775054]|Homozygous familial hypercholesterolemia [RCV004017551]|Hypercholesterolemia, familial, 1 [RCV000237189]|not provided [RCV001699265] |
Chr19:11111522 [GRCh38]
Chr19:11222198 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(190+1_191-1)_(817+1_818-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237190] |
Chr19:11213339..11217364 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854903]|Hypercholesterolemia, familial, 1 [RCV000237191] |
Chr19:11116105 [GRCh38]
Chr19:11226781 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1014C>A (p.Cys338Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237192] |
Chr19:11110725 [GRCh38]
Chr19:11221401 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1686_1693delinsT (p.Trp562fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237194] |
Chr19:11116193..11116200 [GRCh38]
Chr19:11226869..11226876 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1845+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003165671]|Familial hypercholesterolemia [RCV001857829]|Hypercholesterolemia, familial, 1 [RCV000237195] |
Chr19:11116999 [GRCh38]
Chr19:11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.968del (p.Gly323fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237196] |
Chr19:11110678 [GRCh38]
Chr19:11221354 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.818-2A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002429169]|Familial hypercholesterolemia [RCV002519843]|Hypercholesterolemia, familial, 1 [RCV000237197]|LDLR-related condition [RCV003401203] |
Chr19:11107390 [GRCh38]
Chr19:11218066 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854883]|Homozygous familial hypercholesterolemia [RCV004017535]|Hypercholesterolemia, familial, 1 [RCV000237198] |
Chr19:11100281 [GRCh38]
Chr19:11210957 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001385152]|Hypercholesterolemia, familial, 1 [RCV000237199] |
Chr19:11120475 [GRCh38]
Chr19:11231151 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1187-1G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518486]|Hypercholesterolemia, familial, 1 [RCV000237200] |
Chr19:11113277 [GRCh38]
Chr19:11223953 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775039]|Hypercholesterolemia, familial, 1 [RCV000237201] |
Chr19:11105333 [GRCh38]
Chr19:11216009 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.673_682delinsTGCAA (p.Lys225fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237202] |
Chr19:11105579..11105588 [GRCh38]
Chr19:11216255..11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.451_453del (p.Ala151del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237203] |
Chr19:11105355..11105357 [GRCh38]
Chr19:11216033..11216035 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237204] |
Chr19:11105424 [GRCh38]
Chr19:11216100 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.705dup (p.Cys236fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237205] |
Chr19:11106573..11106574 [GRCh38]
Chr19:11217251 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.621C>G (p.Gly207=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581606]|Hypercholesterolemia, familial, 1 [RCV000237206] |
Chr19:11105527 [GRCh38]
Chr19:11216203 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1934dup (p.Asn645fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237207] |
Chr19:11120176..11120177 [GRCh38]
Chr19:11230856 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001376811]|Hypercholesterolemia, familial, 1 [RCV000237208] |
Chr19:11105571 [GRCh38]
Chr19:11216247 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2025C>T (p.Gly675=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418063]|Familial hypercholesterolemia [RCV002057264]|Hypercholesterolemia, familial, 1 [RCV000237209]|not provided [RCV001171939] |
Chr19:11120407 [GRCh38]
Chr19:11231083 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446480]|Hypercholesterolemia, familial, 1 [RCV000237210] |
Chr19:11129519 [GRCh38]
Chr19:11240195 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237211] |
Chr19:11113302 [GRCh38]
Chr19:11223978 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1288G>C (p.Val430Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237213] |
Chr19:11113379 [GRCh38]
Chr19:11224055 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1132C>T (p.Gln378Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581615]|Homozygous familial hypercholesterolemia [RCV004017552]|Hypercholesterolemia, familial, 1 [RCV000237214] |
Chr19:11111585 [GRCh38]
Chr19:11222261 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs) |
deletion |
Familial hypercholesterolemia [RCV002518496]|Hypercholesterolemia, familial, 1 [RCV000237215] |
Chr19:11123295..11123304 [GRCh38]
Chr19:11233973..11233982 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.28T>A (p.Trp10Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237216] |
Chr19:11089576 [GRCh38]
Chr19:11200252 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020970]|Familial hypercholesterolemia [RCV001182067]|Hypercholesterolemia, familial, 1 [RCV000237217]|not provided [RCV003238749] |
Chr19:11120101 [GRCh38]
Chr19:11230777 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1936del (p.Leu646fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237218] |
Chr19:11120181 [GRCh38]
Chr19:11230857 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.695-1G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001208565]|Hypercholesterolemia, familial, 1 [RCV000237219] |
Chr19:11106564 [GRCh38]
Chr19:11217240 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| c.(?_-187)_(1186+1_1187-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237220] |
Chr19:11200038..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1104C>A (p.Cys368Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429174]|Hypercholesterolemia, familial, 1 [RCV000237222] |
Chr19:11111557 [GRCh38]
Chr19:11222233 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2390-1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237223] |
Chr19:11129512 [GRCh38]
Chr19:11240188 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.535G>T (p.Glu179Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237225]|not provided [RCV003480569] |
Chr19:11105441 [GRCh38]
Chr19:11216117 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.367T>A (p.Ser123Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237226] |
Chr19:11105273 [GRCh38]
Chr19:11215949 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.591C>A (p.Cys197Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237227] |
Chr19:11105497 [GRCh38]
Chr19:11216173 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1498_1499del (p.Val500fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237228] |
Chr19:11113673..11113674 [GRCh38]
Chr19:11224350..11224351 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(190+1_191-1)_(940+1_941-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237229] |
Chr19:11213339..11218191 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1683del (p.Gln561fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237230] |
Chr19:11116190 [GRCh38]
Chr19:11226866 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.291C>G (p.Asn97Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237231] |
Chr19:11102764 [GRCh38]
Chr19:11213440 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429164]|Familial hypercholesterolemia [RCV000775026]|Hypercholesterolemia, familial, 1 [RCV000237232]|not provided [RCV001582800] |
Chr19:11102696 [GRCh38]
Chr19:11213372 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237233] |
Chr19:11107493 [GRCh38]
Chr19:11218169 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.850T>G (p.Cys284Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237234] |
Chr19:11107424 [GRCh38]
Chr19:11218100 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.939C>A (p.Cys313Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446475]|Familial hypercholesterolemia [RCV000775228]|Hypercholesterolemia, familial, 1 [RCV000237235] |
Chr19:11107513 [GRCh38]
Chr19:11218189 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1045dup (p.Gln349fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237237] |
Chr19:11110753..11110754 [GRCh38]
Chr19:11221432 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.347_367del (p.Cys116_Ile122del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237238] |
Chr19:11105251..11105271 [GRCh38]
Chr19:11215929..11215949 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237239] |
Chr19:11100271..11100272 [GRCh38]
Chr19:11210947..11210948 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1532T>G (p.Leu511Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237240] |
Chr19:11113708 [GRCh38]
Chr19:11224384 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1749_1753del (p.Ser584fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237241] |
Chr19:11116900..11116904 [GRCh38]
Chr19:11227578..11227582 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.744C>A (p.Cys248Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237242] |
Chr19:11106614 [GRCh38]
Chr19:11217290 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.457T>G (p.Phe153Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237243] |
Chr19:11105363 [GRCh38]
Chr19:11216039 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1988G>A (p.Gly663Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237244] |
Chr19:11120370 [GRCh38]
Chr19:11231046 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.68-5_68-2del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237245] |
Chr19:11100218..11100221 [GRCh38]
Chr19:11210894..11210897 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.896del (p.Ala299fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237246] |
Chr19:11107470 [GRCh38]
Chr19:11218146 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.251C>G (p.Pro84Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518473]|Hypercholesterolemia, familial, 1 [RCV000237248] |
Chr19:11102724 [GRCh38]
Chr19:11213400 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321918]|Familial hypercholesterolemia [RCV000791396]|Hypercholesterolemia, familial, 1 [RCV000237249]|not provided [RCV003321575] |
Chr19:11111588 [GRCh38]
Chr19:11222264 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177032]|Hypercholesterolemia, familial, 1 [RCV000237250]|not provided [RCV003329271]|not specified [RCV000780376] |
Chr19:11113605 [GRCh38]
Chr19:11224281 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1844A>T (p.Glu615Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411095]|Hypercholesterolemia, familial, 1 [RCV000237251] |
Chr19:11116997 [GRCh38]
Chr19:11227673 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411087]|Familial hypercholesterolemia [RCV000791446]|Hypercholesterolemia, familial, 1 [RCV000237252]|not provided [RCV001529326] |
Chr19:11116882 [GRCh38]
Chr19:11227558 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1502dup (p.Asp502fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237253] |
Chr19:11113677..11113678 [GRCh38]
Chr19:11224354 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-88G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001526179]|Hypercholesterolemia, familial, 1 [RCV000237254] |
Chr19:11089461 [GRCh38]
Chr19:11200137 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1644_1645insC (p.Gly549fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237255] |
Chr19:11116151..11116152 [GRCh38]
Chr19:11226827..11226828 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229690]|Homozygous familial hypercholesterolemia [RCV004017553]|Hypercholesterolemia, familial, 1 [RCV000237256]|not provided [RCV003128612] |
Chr19:11111629 [GRCh38]
Chr19:11222305 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1392del (p.Tyr465fs) |
deletion |
Familial hypercholesterolemia [RCV001034625]|Hypercholesterolemia, familial, 1 [RCV000237257] |
Chr19:11113567 [GRCh38]
Chr19:11224243 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.796_799del (p.Asp266fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237258] |
Chr19:11106666..11106669 [GRCh38]
Chr19:11217342..11217345 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1324T>A (p.Tyr442Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237259] |
Chr19:11113415 [GRCh38]
Chr19:11224091 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356329]|Familial hypercholesterolemia [RCV000775044]|Homozygous familial hypercholesterolemia [RCV000825594]|Hypercholesterolemia, familial, 1 [RCV000237260]|not provided [RCV000490241] |
Chr19:11105495 [GRCh38]
Chr19:11216171 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2088C>G (p.Cys696Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237261] |
Chr19:11120470 [GRCh38]
Chr19:11231146 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237263] |
Chr19:11120514 [GRCh38]
Chr19:11231190 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.917C>A (p.Ser306Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237264] |
Chr19:11107491 [GRCh38]
Chr19:11218167 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(940+1_941-1)_(2140+1_2141-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237265] |
Chr19:11221327..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1671_1672del (p.Glu558fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237266] |
Chr19:11116178..11116179 [GRCh38]
Chr19:11226854..11226855 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) |
microsatellite |
Familial hypercholesterolemia [RCV002229685]|Hypercholesterolemia, familial, 1 [RCV000237267] |
Chr19:11100323..11100325 [GRCh38]
Chr19:11210999..11211001 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1727A>C (p.Tyr576Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237268] |
Chr19:11116880 [GRCh38]
Chr19:11227556 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001220026]|Hypercholesterolemia, familial, 1 [RCV000237269] |
Chr19:11113417 [GRCh38]
Chr19:11224093 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446472]|Familial hypercholesterolemia [RCV001182218]|Hypercholesterolemia, familial, 1 [RCV000237270] |
Chr19:11102699 [GRCh38]
Chr19:11213375 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450751]|Familial hypercholesterolemia [RCV000816738]|Hypercholesterolemia, familial, 1 [RCV000237271] |
Chr19:11129554 [GRCh38]
Chr19:11240230 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1545C>T (p.Asn515=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401936]|Familial hypercholesterolemia [RCV000771546]|Hypercholesterolemia, familial, 1 [RCV000237272]|not provided [RCV001706281]|not specified [RCV001193181] |
Chr19:11113721 [GRCh38]
Chr19:11224397 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.651_687del (p.Asp217fs) |
deletion |
Familial hypercholesterolemia [RCV003741171]|Hypercholesterolemia, familial, 1 [RCV000237273] |
Chr19:11105556..11105592 [GRCh38]
Chr19:11216233..11216269 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(313+1_314-1)_(817+1_818-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237274] |
Chr19:11215895..11217364 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1060+26T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237275] |
Chr19:11110797 [GRCh38]
Chr19:11221473 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347934]|Familial hypercholesterolemia [RCV001221497]|Hypercholesterolemia, familial, 1 [RCV000237276]|not provided [RCV001284638] |
Chr19:11089559 [GRCh38]
Chr19:11200235 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.657_661dup (p.Asp221fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237278] |
Chr19:11105561..11105562 [GRCh38]
Chr19:11216239..11216243 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1886del (p.Phe629fs) |
deletion |
Cardiovascular phenotype [RCV002411104]|Familial hypercholesterolemia [RCV002229815]|Hypercholesterolemia, familial, 1 [RCV000237279] |
Chr19:11120129 [GRCh38]
Chr19:11230805 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518478]|Hypercholesterolemia, familial, 1 [RCV000237280] |
Chr19:11105456 [GRCh38]
Chr19:11216132 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2311+1941_*1216dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237281] |
Chr19:11125280..11125281 [GRCh38]
Chr19:11235956..11235957 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| FH Paris 1 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237282] |
Chr19:11217240..11217364 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.463T>C (p.Cys155Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338778]|Hypercholesterolemia, familial, 1 [RCV000237283] |
Chr19:11105369 [GRCh38]
Chr19:11216045 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581637]|Hypercholesterolemia, familial, 1 [RCV000237284]|not provided [RCV001284643] |
Chr19:11120379 [GRCh38]
Chr19:11231055 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.369_393del (p.Arg124fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237285] |
Chr19:11105274..11105298 [GRCh38]
Chr19:11215951..11215975 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003114411]|Hypercholesterolemia, familial, 1 [RCV000237286] |
Chr19:11116975 [GRCh38]
Chr19:11227651 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179370]|Hypercholesterolemia, familial, 1 [RCV000237287]|not provided [RCV001283998] |
Chr19:11106685 [GRCh38]
Chr19:11217361 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2001_2007del (p.Trp666_Cys667insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237288] |
Chr19:11120382..11120388 [GRCh38]
Chr19:11231059..11231065 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1706-23T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237289] |
Chr19:11116836 [GRCh38]
Chr19:11227512 [GRCh37]
Chr19:19p13.2 |
likely benign |
| c.(1586+1_1587-1)_(2311+1_2312-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237291] |
Chr19:11226769..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401946]|Familial hypercholesterolemia [RCV000775077]|Hypercholesterolemia, familial, 1 [RCV000237292]|not provided [RCV000845536]|not specified [RCV003155136] |
Chr19:11116918 [GRCh38]
Chr19:11227594 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1948_1952dup (p.Asp651fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237293] |
Chr19:11120192..11120193 [GRCh38]
Chr19:11230870..11230874 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001062304]|Hypercholesterolemia, familial, 1 [RCV000237294]|not provided [RCV003128611] |
Chr19:11089592 [GRCh38]
Chr19:11200268 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237295] |
Chr19:11113392 [GRCh38]
Chr19:11224068 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.-156C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002401928]|Familial hypercholesterolemia [RCV000813804]|Hypercholesterolemia, familial, 1 [RCV000237296]|not provided [RCV003417847] |
Chr19:11089393 [GRCh38]
Chr19:11200069 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| c.(1060+1_1061-1)_(1186+1_1187-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237297] |
Chr19:11222189..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.932_933del (p.Lys311fs) |
deletion |
Familial hypercholesterolemia [RCV000775682]|Hypercholesterolemia, familial, 1 [RCV000237298] |
Chr19:11107505..11107506 [GRCh38]
Chr19:11218182..11218183 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.371_372insC (p.Gln125fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237299] |
Chr19:11105277..11105278 [GRCh38]
Chr19:11215953..11215954 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.301del (p.Glu101fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237300] |
Chr19:11102774 [GRCh38]
Chr19:11213450 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2297_2298del (p.Thr766fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237301] |
Chr19:11123329..11123330 [GRCh38]
Chr19:11234006..11234007 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237302] |
Chr19:11105582 [GRCh38]
Chr19:11216258 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.980dup (p.His327fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237303] |
Chr19:11110690..11110691 [GRCh38]
Chr19:11221367 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.609del (p.Cys204fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237304] |
Chr19:11105515 [GRCh38]
Chr19:11216191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.762G>T (p.Gln254His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237305] |
Chr19:11106632 [GRCh38]
Chr19:11217308 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1846-10G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000869000]|Hypercholesterolemia, familial, 1 [RCV000237306]|not specified [RCV000599958] |
Chr19:11120082 [GRCh38]
Chr19:11230758 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.138C>A (p.Cys46Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237307] |
Chr19:11100293 [GRCh38]
Chr19:11210969 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1120_1121delinsTC (p.Gly374Ser) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237308] |
Chr19:11111573..11111574 [GRCh38]
Chr19:11222249..11222250 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.236dup (p.Asn80fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237309] |
Chr19:11102708..11102709 [GRCh38]
Chr19:11213385 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.354_356del (p.Asp118_Gly119delinsGlu) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237310] |
Chr19:11105260..11105262 [GRCh38]
Chr19:11215936..11215938 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.464G>T (p.Cys155Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338779]|Hypercholesterolemia, familial, 1 [RCV000237311] |
Chr19:11105370 [GRCh38]
Chr19:11216046 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1055G>T (p.Cys352Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001387172]|Hypercholesterolemia, familial, 1 [RCV000237312]|not provided [RCV003477852] |
Chr19:11110766 [GRCh38]
Chr19:11221442 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| c.(1845+1_1846-1)_(2140+1_2141-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237313] |
Chr19:11230767..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.532_533insT (p.Asp178fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237314] |
Chr19:11105438..11105439 [GRCh38]
Chr19:11216114..11216115 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379063]|Hypercholesterolemia, familial, 1 [RCV000237315] |
Chr19:11113420 [GRCh38]
Chr19:11224096 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001523918]|Hypercholesterolemia, familial, 1 [RCV000237316] |
Chr19:11105532 [GRCh38]
Chr19:11216208 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2035dup (p.Tyr679fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237317] |
Chr19:11120416..11120417 [GRCh38]
Chr19:11231093 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+23G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237318]|not provided [RCV003417849] |
Chr19:11128108 [GRCh38]
Chr19:11238784 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) |
deletion |
Cardiovascular phenotype [RCV002347939]|Familial hypercholesterolemia [RCV000781507]|Hypercholesterolemia, familial, 1 [RCV000237319] |
Chr19:11113288..11113296 [GRCh38]
Chr19:11223966..11223974 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) |
indel |
Familial hypercholesterolemia [RCV001203165]|Homozygous familial hypercholesterolemia [RCV004017547]|Hypercholesterolemia, familial, 1 [RCV000237320] |
Chr19:11110730..11110731 [GRCh38]
Chr19:11221406..11221407 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.361T>A (p.Cys121Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237321] |
Chr19:11105267 [GRCh38]
Chr19:11215943 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.99del (p.Gln33fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237322] |
Chr19:11100254 [GRCh38]
Chr19:11210930 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1516_1562del (p.Val506fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237323] |
Chr19:11113684..11113730 [GRCh38]
Chr19:11224368..11224414 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.826T>G (p.Cys276Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237324] |
Chr19:11107400 [GRCh38]
Chr19:11218076 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.193_201delinsGACTTCA (p.Ser65fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237325] |
Chr19:11102666..11102674 [GRCh38]
Chr19:11213342..11213350 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1586+1_1587-1)_(1845+1_1846-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237326] |
Chr19:11226769..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) |
duplication |
Familial hypercholesterolemia [RCV002519854]|Hypercholesterolemia, familial, 1 [RCV000237327] |
Chr19:11129520..11129521 [GRCh38]
Chr19:11240206..11240223 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.933del (p.Glu312fs) |
deletion |
Cardiovascular phenotype [RCV004020955]|Familial hypercholesterolemia [RCV002229689]|Hypercholesterolemia, familial, 1 [RCV000237329] |
Chr19:11107505 [GRCh38]
Chr19:11218181 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-152C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002401929]|Familial hypercholesterolemia [RCV001258114]|Hypercholesterolemia, familial, 1 [RCV000237330] |
Chr19:11089397 [GRCh38]
Chr19:11200073 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.669_679dup (p.Asp227fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237331] |
Chr19:11105574..11105575 [GRCh38]
Chr19:11216251..11216261 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.722T>C (p.Phe241Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237332] |
Chr19:11106592 [GRCh38]
Chr19:11217268 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000791408]|Hypercholesterolemia, familial, 1 [RCV000237333] |
Chr19:11106579 [GRCh38]
Chr19:11217255 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.600del (p.Phe200fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237334] |
Chr19:11105506 [GRCh38]
Chr19:11216182 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.374_375insCTGA (p.Gln125delinsHisTer) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237336] |
Chr19:11105279..11105280 [GRCh38]
Chr19:11215956..11215957 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237337] |
Chr19:11107496 [GRCh38]
Chr19:11218172 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1417_1431del (p.Ile473_Asp477del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237338] |
Chr19:11113590..11113604 [GRCh38]
Chr19:11224269..11224283 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2140+1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002429175]|Familial hypercholesterolemia [RCV001260306]|Hypercholesterolemia, familial, 1 [RCV000237339]|not provided [RCV000985766] |
Chr19:11120523 [GRCh38]
Chr19:11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.4(LDLR):c.-1823_190+566del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237340] |
Chr19:11087726..11100911 [GRCh38]
Chr19:11198402..11211587 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.242dup (p.Cys82fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237341] |
Chr19:11102714..11102715 [GRCh38]
Chr19:11213391 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.56C>A (p.Ala19Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237342] |
Chr19:11089604 [GRCh38]
Chr19:11200280 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000811581]|Hypercholesterolemia, familial, 1 [RCV000237343] |
Chr19:11111525 [GRCh38]
Chr19:11222201 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581627]|Hypercholesterolemia, familial, 1 [RCV000237344] |
Chr19:11113731 [GRCh38]
Chr19:11224407 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2478del (p.Val827fs) |
deletion |
Cardiovascular phenotype [RCV002450753]|Familial hypercholesterolemia [RCV001050453]|Hypercholesterolemia, familial, 1 [RCV000237345]|not provided [RCV000598936] |
Chr19:11129598 [GRCh38]
Chr19:11240274 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411088]|Familial hypercholesterolemia [RCV002229692]|Homozygous familial hypercholesterolemia [RCV000825595]|Hypercholesterolemia, familial, 1 [RCV000237346]|not provided [RCV001284641] |
Chr19:11116888 [GRCh38]
Chr19:11227564 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237347]|not provided [RCV001699252] |
Chr19:11116986 [GRCh38]
Chr19:11227662 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1441G>A (p.Val481Met) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237348] |
Chr19:11113617 [GRCh38]
Chr19:11224293 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2000del (p.Cys667fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237349] |
Chr19:11120382 [GRCh38]
Chr19:11231058 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.41del (p.Leu14fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237350] |
Chr19:11089588 [GRCh38]
Chr19:11200264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1756del (p.Ser586fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237351] |
Chr19:11116909 [GRCh38]
Chr19:11227585 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1306del (p.Val436fs) |
deletion |
Familial hypercholesterolemia [RCV003581620]|Hypercholesterolemia, familial, 1 [RCV000237352] |
Chr19:11113396 [GRCh38]
Chr19:11224072 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001174944]|Hypercholesterolemia, familial, 1 [RCV000237353] |
Chr19:11120144 [GRCh38]
Chr19:11230820 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1688C>A (p.Pro563His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401940]|Hypercholesterolemia, familial, 1 [RCV000237354]|not provided [RCV001800608] |
Chr19:11116195 [GRCh38]
Chr19:11226871 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1061-1G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237355] |
Chr19:11111513 [GRCh38]
Chr19:11222189 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.264G>C (p.Arg88Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237356] |
Chr19:11102737 [GRCh38]
Chr19:11213413 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| c.(817+1_818-1)_(*2514_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237357] |
Chr19:11218067..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.190+1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV004020946]|Hypercholesterolemia, familial, 1 [RCV000237358] |
Chr19:11100346 [GRCh38]
Chr19:11211022 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237359] |
Chr19:11129536 [GRCh38]
Chr19:11240212 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.977C>G (p.Ser326Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001387171]|Hypercholesterolemia, familial, 1 [RCV000237360] |
Chr19:11110688 [GRCh38]
Chr19:11221364 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(67+1_68-1)_(817+1_818-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237361] |
Chr19:11210898..11217364 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.694+4dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237362] |
Chr19:11105603..11105604 [GRCh38]
Chr19:11216279..11216280 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.147C>A (p.Ser49Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237363] |
Chr19:11100302 [GRCh38]
Chr19:11210978 [GRCh37]
Chr19:19p13.2 |
likely benign |
| c.(2311+1_2312-1)_(*2514_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237364] |
Chr19:11238683..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.666C>G (p.Cys222Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237365] |
Chr19:11105572 [GRCh38]
Chr19:11216248 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237366] |
Chr19:11120153 [GRCh38]
Chr19:11230829 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1646G>T (p.Gly549Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237367] |
Chr19:11116153 [GRCh38]
Chr19:11226829 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.472del (p.Ser158fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237368] |
Chr19:11105378 [GRCh38]
Chr19:11216054 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1153C>G (p.Leu385Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237369]|not provided [RCV003441824] |
Chr19:11111606 [GRCh38]
Chr19:11222282 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.820A>T (p.Thr274Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237370] |
Chr19:11107394 [GRCh38]
Chr19:11218070 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581642]|Hypercholesterolemia, familial, 1 [RCV000237371] |
Chr19:11120481 [GRCh38]
Chr19:11231157 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.313+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002321912]|Familial hypercholesterolemia [RCV002519838]|Hypercholesterolemia, familial, 1 [RCV000237372]|not provided [RCV003441820] |
Chr19:11102791 [GRCh38]
Chr19:11213467 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020972]|Familial hypercholesterolemia [RCV003330605]|Hypercholesterolemia, familial, 1 [RCV000237373] |
Chr19:11120192 [GRCh38]
Chr19:11230868 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.598T>A (p.Phe200Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237374] |
Chr19:11105504 [GRCh38]
Chr19:11216180 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1223A>T (p.Glu408Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365246]|Familial hypercholesterolemia [RCV001235902]|Hypercholesterolemia, familial, 1 [RCV000237375]|not provided [RCV003114410] |
Chr19:11113314 [GRCh38]
Chr19:11223990 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775037]|Hypercholesterolemia, familial, 1 [RCV000237376]|not provided [RCV003148692] |
Chr19:11105307 [GRCh38]
Chr19:11215983 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.502G>T (p.Asp168Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519840]|Hypercholesterolemia, familial, 1 [RCV000237377] |
Chr19:11105408 [GRCh38]
Chr19:11216084 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1444G>T (p.Asp482Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237378] |
Chr19:11113620 [GRCh38]
Chr19:11224296 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.-217C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000863456]|Hypercholesterolemia, familial, 1 [RCV000237379]|not provided [RCV001800602] |
Chr19:11089332 [GRCh38]
Chr19:11200008 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1802A>T (p.Asp601Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519851]|Hypercholesterolemia, familial, 1 [RCV000237380] |
Chr19:11116955 [GRCh38]
Chr19:11227631 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1567_1575del (p.Val523_Asp525del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237381] |
Chr19:11113743..11113751 [GRCh38]
Chr19:11224419..11224427 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1979A>G (p.Gln660Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581636]|Hypercholesterolemia, familial, 1 [RCV000237382] |
Chr19:11120225 [GRCh38]
Chr19:11230901 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5:c.(67+1_68-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237383] |
Chr19:11210898..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237384] |
Chr19:11120138 [GRCh38]
Chr19:11230814 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524620]|Hypercholesterolemia, familial, 1 [RCV000237385] |
Chr19:11128039 [GRCh38]
Chr19:11238715 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.941-38C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237386] |
Chr19:11110614 [GRCh38]
Chr19:11221290 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1339T>C (p.Ser447Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237387] |
Chr19:11113430 [GRCh38]
Chr19:11224106 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2548-2A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237388] |
Chr19:11131279 [GRCh38]
Chr19:11241955 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.-23A>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581591]|Hypercholesterolemia, familial, 1 [RCV000237390]|not provided [RCV002223825] |
Chr19:11089526 [GRCh38]
Chr19:11200202 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347938]|Familial hypercholesterolemia [RCV001854888]|Hypercholesterolemia, familial, 1 [RCV000237391] |
Chr19:11105470 [GRCh38]
Chr19:11216146 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379059]|Familial hypercholesterolemia [RCV001064785]|Hypercholesterolemia, familial, 1 [RCV000237392]|not provided [RCV000590555]|not specified [RCV001800606] |
Chr19:11110737 [GRCh38]
Chr19:11221413 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.941-1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001034656]|Hypercholesterolemia, familial, 1 [RCV000237393] |
Chr19:11110651 [GRCh38]
Chr19:11221327 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.4(LDLR):c.1186+700_2141-545del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237394] |
Chr19:11112339..11122629 [GRCh38]
Chr19:11223015..11233305 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.380T>A (p.Val127Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237395] |
Chr19:11105286 [GRCh38]
Chr19:11215962 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.323C>T (p.Thr108Met) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237396] |
Chr19:11105229 [GRCh38]
Chr19:11215905 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411100]|Hypercholesterolemia, familial, 1 [RCV000237397] |
Chr19:11120111 [GRCh38]
Chr19:11230787 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327176]|Hypercholesterolemia, familial, 1 [RCV000237398]|not provided [RCV002284384] |
Chr19:11105384 [GRCh38]
Chr19:11216060 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(190+1_191-1)_(1186+1_1187-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237399] |
Chr19:11213339..11222316 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1076_1081del (p.Gln359_Asp360del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237400] |
Chr19:11111527..11111532 [GRCh38]
Chr19:11222205..11222210 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.901G>T (p.Asp301Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518481]|Hypercholesterolemia, familial, 1 [RCV000237401] |
Chr19:11107475 [GRCh38]
Chr19:11218151 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1587-2A>T |
single nucleotide variant |
Cardiovascular phenotype [RCV004020969]|Hypercholesterolemia, familial, 1 [RCV000237402] |
Chr19:11116092 [GRCh38]
Chr19:11226768 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411093]|Familial hypercholesterolemia [RCV003581633]|Hypercholesterolemia, familial, 1 [RCV000237403] |
Chr19:11116982 [GRCh38]
Chr19:11227658 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.90C>T (p.Asn30=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446469]|Familial hypercholesterolemia [RCV001081718]|Hypercholesterolemia, familial, 1 [RCV000237404]|not provided [RCV000759077]|not specified [RCV000440331] |
Chr19:11100245 [GRCh38]
Chr19:11210921 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| c.(1705+1_1706-1)_(2389+1_2390-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237405] |
Chr19:11227534..11238762 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418060]|Familial hypercholesterolemia [RCV002518492]|Hypercholesterolemia, familial, 1 [RCV000237406] |
Chr19:11120380 [GRCh38]
Chr19:11231056 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1186+11G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000864649]|Hypercholesterolemia, familial, 1 [RCV000237407]|not provided [RCV002225535]|not specified [RCV003226266] |
Chr19:11111650 [GRCh38]
Chr19:11222326 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321915]|Familial hypercholesterolemia [RCV003581594]|Hypercholesterolemia, familial, 1 [RCV000237408]|not provided [RCV003422164] |
Chr19:11105231 [GRCh38]
Chr19:11215907 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1231A>G (p.Lys411Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237409] |
Chr19:11113322 [GRCh38]
Chr19:11223998 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1645_1646insC (p.Gly549fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237410] |
Chr19:11116152..11116153 [GRCh38]
Chr19:11226828..11226829 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.681_682insTGAG (p.Glu228Ter) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237411] |
Chr19:11105587..11105588 [GRCh38]
Chr19:11216263..11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.506A>T (p.Asn169Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237412] |
Chr19:11105412 [GRCh38]
Chr19:11216088 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2389+3A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237413] |
Chr19:11128088 [GRCh38]
Chr19:11238764 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001293735]|Hypercholesterolemia, familial, 1 [RCV000237414] |
Chr19:11107479 [GRCh38]
Chr19:11218155 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del) |
microsatellite |
Cardiovascular phenotype [RCV002411102]|Familial hypercholesterolemia [RCV001042592]|Hypercholesterolemia, familial, 1 [RCV000237415]|not provided [RCV003477856] |
Chr19:11120113..11120115 [GRCh38]
Chr19:11230789..11230791 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1825T>C (p.Phe609Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237416] |
Chr19:11116978 [GRCh38]
Chr19:11227654 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401934]|Familial hypercholesterolemia [RCV000775053]|Homozygous familial hypercholesterolemia [RCV004017550]|Hypercholesterolemia, familial, 1 [RCV000237417]|not provided [RCV003477853] |
Chr19:11111514 [GRCh38]
Chr19:11222190 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1470G>A (p.Trp490Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237419] |
Chr19:11113646 [GRCh38]
Chr19:11224322 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237420] |
Chr19:11106669 [GRCh38]
Chr19:11217345 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3 |
copy number gain |
Hypercholesterolemia, familial, 1 [RCV000237421] |
Chr19:11210898..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2184del (p.Arg728fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237422] |
Chr19:11123216 [GRCh38]
Chr19:11233892 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.694+1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775047]|Hypercholesterolemia, familial, 1 [RCV000237423] |
Chr19:11105601 [GRCh38]
Chr19:11216277 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2322_2342del (p.Asp774_Asn780del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237424] |
Chr19:11128016..11128036 [GRCh38]
Chr19:11238694..11238714 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.768C>G (p.Asp256Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237425] |
Chr19:11106638 [GRCh38]
Chr19:11217314 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2096del (p.Pro699fs) |
deletion |
Familial hypercholesterolemia [RCV003581641]|Hypercholesterolemia, familial, 1 [RCV000237426] |
Chr19:11120476 [GRCh38]
Chr19:11231152 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.-14C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182215]|Hypercholesterolemia, familial, 1 [RCV000237427] |
Chr19:11089535 [GRCh38]
Chr19:11200211 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.655_657del (p.Gly219del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237428] |
Chr19:11105561..11105563 [GRCh38]
Chr19:11216237..11216239 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001238043]|Hypercholesterolemia, familial, 1 [RCV000237429] |
Chr19:11113346 [GRCh38]
Chr19:11224022 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2478dup (p.Val827fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237430] |
Chr19:11129597..11129598 [GRCh38]
Chr19:11240277 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.558_559insG (p.Leu187fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237431] |
Chr19:11105464..11105465 [GRCh38]
Chr19:11216140..11216141 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001833252]|Hypercholesterolemia, familial, 1 [RCV000237432]|not specified [RCV000454439] |
Chr19:11105544 [GRCh38]
Chr19:11216220 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.986G>T (p.Cys329Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237433] |
Chr19:11110697 [GRCh38]
Chr19:11221373 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.763T>G (p.Cys255Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237434] |
Chr19:11106633 [GRCh38]
Chr19:11217309 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237435] |
Chr19:11129522..11129526 [GRCh38]
Chr19:11240198..11240202 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2201_2202del (p.Thr734fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000237436] |
Chr19:11123232..11123233 [GRCh38]
Chr19:11233908..11233909 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1363del (p.Gln455fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237437] |
Chr19:11113537 [GRCh38]
Chr19:11224213 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857831]|Hypercholesterolemia, familial, 1 [RCV000237438] |
Chr19:11120108 [GRCh38]
Chr19:11230784 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| c.(190+1_191-1)_(1845+1_1846-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237439] |
Chr19:11213339..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.350_372dup (p.Gln125fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237440] |
Chr19:11105255..11105256 [GRCh38]
Chr19:11215932..11215954 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237441] |
Chr19:11120423 [GRCh38]
Chr19:11231099 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1798G>T (p.Glu600Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237442] |
Chr19:11116951 [GRCh38]
Chr19:11227627 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411081]|Hypercholesterolemia, familial, 1 [RCV000237443] |
Chr19:11110765 [GRCh38]
Chr19:11221441 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436073]|Familial hypercholesterolemia [RCV000814794]|Hypercholesterolemia, familial, 1 [RCV000237444] |
Chr19:11102771 [GRCh38]
Chr19:11213447 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001318147]|Hypercholesterolemia, familial, 1 [RCV000237445] |
Chr19:11111541 [GRCh38]
Chr19:11222217 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446474]|Hypercholesterolemia, familial, 1 [RCV000237446] |
Chr19:11107439 [GRCh38]
Chr19:11218115 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1187-2A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518485]|Hypercholesterolemia, familial, 1 [RCV000237447]|not provided [RCV000482482] |
Chr19:11113276 [GRCh38]
Chr19:11223952 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1951G>T (p.Asp651Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237448] |
Chr19:11120197 [GRCh38]
Chr19:11230873 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.941-2966_*2583+4485del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237449] |
Chr19:11107686..11138384 [GRCh38]
Chr19:11218362..11249060 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.415G>A (p.Asp139Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237450] |
Chr19:11105321 [GRCh38]
Chr19:11215997 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.513del (p.Asp172fs) |
deletion |
Cardiovascular phenotype [RCV003372663]|Familial hypercholesterolemia [RCV000781504]|Hypercholesterolemia, familial, 1 [RCV000237451]|not provided [RCV000598934] |
Chr19:11105416 [GRCh38]
Chr19:11216092 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1022C>G (p.Pro341Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237452] |
Chr19:11110733 [GRCh38]
Chr19:11221409 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.93_99del (p.Glu31fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237453] |
Chr19:11100248..11100254 [GRCh38]
Chr19:11210924..11210930 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1793T>C (p.Ile598Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237454] |
Chr19:11116946 [GRCh38]
Chr19:11227622 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1400C>T (p.Thr467Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237455] |
Chr19:11113576 [GRCh38]
Chr19:11224252 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.874del (p.Leu292fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237456] |
Chr19:11107446 [GRCh38]
Chr19:11218122 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418053]|Familial hypercholesterolemia [RCV001229239]|Hypercholesterolemia, familial, 1 [RCV000237457] |
Chr19:11106667 [GRCh38]
Chr19:11217343 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.292G>C (p.Gly98Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237458] |
Chr19:11102765 [GRCh38]
Chr19:11213441 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1612A>T (p.Thr538Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237460] |
Chr19:11116119 [GRCh38]
Chr19:11226795 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327173]|Familial hypercholesterolemia [RCV001186868]|Hypercholesterolemia, familial, 1 [RCV000237461]|not provided [RCV002223826] |
Chr19:11105346 [GRCh38]
Chr19:11216022 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1265T>C (p.Leu422Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237462] |
Chr19:11113356 [GRCh38]
Chr19:11224032 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518491]|Hypercholesterolemia, familial, 1 [RCV000237463] |
Chr19:11120222 [GRCh38]
Chr19:11230898 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.631C>T (p.His211Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365239]|Familial hypercholesterolemia [RCV001034621]|Homozygous familial hypercholesterolemia [RCV004017546]|Hypercholesterolemia, familial, 1 [RCV000237464]|not provided [RCV000786352]|not specified [RCV000781510] |
Chr19:11105537 [GRCh38]
Chr19:11216213 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1113_1114insTGGG (p.Glu372fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237465] |
Chr19:11111565..11111566 [GRCh38]
Chr19:11222242..11222243 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418067]|Familial hypercholesterolemia [RCV002518494]|Hypercholesterolemia, familial, 1 [RCV000237466] |
Chr19:11120438 [GRCh38]
Chr19:11231114 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.526_533dup (p.Asp178fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237467] |
Chr19:11105431..11105432 [GRCh38]
Chr19:11216108..11216115 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-142C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237468] |
Chr19:11089407 [GRCh38]
Chr19:11200083 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2191_2203dup (p.Ala735fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237469] |
Chr19:11123221..11123222 [GRCh38]
Chr19:11233900..11233912 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2575G>A (p.Val859Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450754]|Familial hypercholesterolemia [RCV000771548]|Hypercholesterolemia, familial, 1 [RCV000237470]|not provided [RCV001589203] |
Chr19:11131308 [GRCh38]
Chr19:11241984 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.190+984_1846-1160del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237471] |
Chr19:11101329..11118932 [GRCh38]
Chr19:11212005..11229608 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+5G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237473] |
Chr19:11128090 [GRCh38]
Chr19:11238766 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.680_681ins(21) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237474] |
Chr19:11105586..11105587 [GRCh38]
Chr19:11216262..11216263 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.-136C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002379055]|Familial hypercholesterolemia [RCV001854881]|Hypercholesterolemia, familial, 1 [RCV000237475] |
Chr19:11089413 [GRCh38]
Chr19:11200089 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020971]|Familial hypercholesterolemia [RCV001048311]|Hypercholesterolemia, familial, 1 [RCV000237476]|not provided [RCV003477858] |
Chr19:11120125 [GRCh38]
Chr19:11230801 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2077_2078del (p.Lys693fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237477] |
Chr19:11120459..11120460 [GRCh38]
Chr19:11231135..11231136 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(190+1_191-1)_(694+1_695-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237478] |
Chr19:11213339..11216277 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.102C>A (p.Cys34Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237479] |
Chr19:11100257 [GRCh38]
Chr19:11210933 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237480] |
Chr19:11116168..11116169 [GRCh38]
Chr19:11226845..11226852 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.514G>C (p.Asp172His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581601]|Hypercholesterolemia, familial, 1 [RCV000237481] |
Chr19:11105420 [GRCh38]
Chr19:11216096 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177033]|Hypercholesterolemia, familial, 1 [RCV000237482] |
Chr19:11113633 [GRCh38]
Chr19:11224309 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| FH Reykjavik |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237483] |
Chr19:11223953..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1034dup (p.Leu346fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237484] |
Chr19:11110744..11110745 [GRCh38]
Chr19:11221421 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2544dup (p.Ser849fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237485] |
Chr19:11129663..11129664 [GRCh38]
Chr19:11240343 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.914G>A (p.Trp305Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581610]|Hypercholesterolemia, familial, 1 [RCV000237486] |
Chr19:11107488 [GRCh38]
Chr19:11218164 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.662A>T (p.Asp221Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237487] |
Chr19:11105568 [GRCh38]
Chr19:11216244 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237488]|not specified [RCV001844101] |
Chr19:11106678 [GRCh38]
Chr19:11217354 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.888C>A (p.Cys296Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854893]|Hypercholesterolemia, familial, 1 [RCV000237489] |
Chr19:11107462 [GRCh38]
Chr19:11218138 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.670_675delinsTTT (p.Asp224_Lys225delinsPhe) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237490] |
Chr19:11105576..11105581 [GRCh38]
Chr19:11216252..11216257 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.695-13T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741173]|Hypercholesterolemia, familial, 1 [RCV000237491] |
Chr19:11106552 [GRCh38]
Chr19:11217228 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1477_1479delinsAGAGACA (p.Ser493fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237492] |
Chr19:11113653..11113655 [GRCh38]
Chr19:11224329..11224331 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.76del (p.Arg26fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237493] |
Chr19:11100231 [GRCh38]
Chr19:11210907 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418073]|Familial hypercholesterolemia [RCV000791393]|Hypercholesterolemia, familial, 1 [RCV000237494]|not provided [RCV002509337] |
Chr19:11123248 [GRCh38]
Chr19:11233924 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| c.(313+1_314-1)_(940+1_941-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237495] |
Chr19:11215895..11218191 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1367_1376del (p.Leu456fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237496] |
Chr19:11113540..11113549 [GRCh38]
Chr19:11224219..11224228 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(940+1_941-1)_(1186+1_1187-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237497] |
Chr19:11221327..11222316 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2390-16G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002450748]|Familial hypercholesterolemia [RCV000776248]|Hypercholesterolemia, familial, 1 [RCV000237498]|not provided [RCV000590119]|not specified [RCV001699174] |
Chr19:11129497 [GRCh38]
Chr19:11240173 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2108_2111dup (p.Arg706fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237499] |
Chr19:11120489..11120490 [GRCh38]
Chr19:11231166..11231169 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237500] |
Chr19:11089551 [GRCh38]
Chr19:11200227 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.418G>T (p.Glu140Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237501] |
Chr19:11105324 [GRCh38]
Chr19:11216000 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1636G>C (p.Gly546Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001389978]|Hypercholesterolemia, familial, 1 [RCV000237502] |
Chr19:11116143 [GRCh38]
Chr19:11226819 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1179G>C (p.Lys393Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237503] |
Chr19:11111632 [GRCh38]
Chr19:11222308 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1916T>G (p.Val639Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237504] |
Chr19:11120162 [GRCh38]
Chr19:11230838 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1091G>T (p.Cys364Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237505] |
Chr19:11111544 [GRCh38]
Chr19:11222220 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.695-356_940+1059del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237506] |
Chr19:11106187..11108551 [GRCh38]
Chr19:11216885..11219249 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1988-2A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237507] |
Chr19:11120368 [GRCh38]
Chr19:11231044 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.953G>T (p.Cys318Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379057]|Familial hypercholesterolemia [RCV001176043]|Hypercholesterolemia, familial, 1 [RCV000237508] |
Chr19:11110664 [GRCh38]
Chr19:11221340 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2384C>A (p.Pro795His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237509] |
Chr19:11128080 [GRCh38]
Chr19:11238756 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237510] |
Chr19:11116966..11116976 [GRCh38]
Chr19:11227644..11227654 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1283A>G (p.Asn428Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237511] |
Chr19:11113374 [GRCh38]
Chr19:11224050 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.578del (p.Asp193fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237512] |
Chr19:11105484 [GRCh38]
Chr19:11216160 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237513] |
Chr19:11120469 [GRCh38]
Chr19:11231145 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237514] |
Chr19:11102747 [GRCh38]
Chr19:11213423 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1659_1661delinsATACTTTCA (p.Tyr553_Ser554delinsTer) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237515] |
Chr19:11116166..11116168 [GRCh38]
Chr19:11226842..11226844 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2150C>G (p.Ala717Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237516] |
Chr19:11123183 [GRCh38]
Chr19:11233859 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.516_524dup (p.Cys173_Asp175dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237517] |
Chr19:11105419..11105420 [GRCh38]
Chr19:11216098..11216106 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1244A>T (p.Asp415Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237518] |
Chr19:11113335 [GRCh38]
Chr19:11224011 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.647G>T (p.Cys216Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237519]|not provided [RCV003477850] |
Chr19:11105553 [GRCh38]
Chr19:11216229 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1736A>G (p.Asp579Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237520] |
Chr19:11116889 [GRCh38]
Chr19:11227565 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1358+3_1358+8del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237521] |
Chr19:11113450..11113455 [GRCh38]
Chr19:11224128..11224133 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.887_889delinsAGC (p.Cys296_Asn297delinsTer) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237522] |
Chr19:11107461..11107463 [GRCh38]
Chr19:11218137..11218139 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374402]|Familial hypercholesterolemia [RCV000791350]|Hypercholesterolemia, familial, 1 [RCV000237523] |
Chr19:11107513 [GRCh38]
Chr19:11218189 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1060+1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237524] |
Chr19:11110772 [GRCh38]
Chr19:11221448 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379060]|Hypercholesterolemia, familial, 1 [RCV000237525] |
Chr19:11110739 [GRCh38]
Chr19:11221415 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(2389+1_2390-1)_(*2514_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237526] |
Chr19:11240188..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.444T>G (p.Cys148Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237527] |
Chr19:11105350 [GRCh38]
Chr19:11216026 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.339dup (p.Phe114fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237528] |
Chr19:11105244..11105245 [GRCh38]
Chr19:11215921 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1987+2_1987+34del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237529] |
Chr19:11120234..11120266 [GRCh38]
Chr19:11230910..11230942 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.682G>C (p.Glu228Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365242]|Familial hypercholesterolemia [RCV000781498]|Hypercholesterolemia, familial, 1 [RCV000237530]|not provided [RCV000985770] |
Chr19:11105588 [GRCh38]
Chr19:11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000237531] |
Chr19:11113293..11113295 [GRCh38]
Chr19:11223969..11223971 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1961_1965dup (p.His656fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237532] |
Chr19:11120203..11120204 [GRCh38]
Chr19:11230883..11230887 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001053567]|Homozygous familial hypercholesterolemia [RCV004017536]|Hypercholesterolemia, familial, 1 [RCV000237533] |
Chr19:11102677 [GRCh38]
Chr19:11213353 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2068C>G (p.His690Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237534] |
Chr19:11120450 [GRCh38]
Chr19:11231126 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519850]|Hypercholesterolemia, familial, 1 [RCV000237535] |
Chr19:11116140 [GRCh38]
Chr19:11226816 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854906]|Hypercholesterolemia, familial, 1 [RCV000237536] |
Chr19:11120102 [GRCh38]
Chr19:11230778 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1374_1375del (p.Arg458fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000237537] |
Chr19:11113548..11113549 [GRCh38]
Chr19:11224224..11224225 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-138T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237538]|not provided [RCV003477846] |
Chr19:11089411 [GRCh38]
Chr19:11200087 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237539] |
Chr19:11129540..11129541 [GRCh38]
Chr19:11240216..11240217 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.532G>T (p.Asp178Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237540] |
Chr19:11105438 [GRCh38]
Chr19:11216114 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1718del (p.Gly573fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237541] |
Chr19:11116870 [GRCh38]
Chr19:11227546 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.781del (p.Cys261fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237542] |
Chr19:11106651 [GRCh38]
Chr19:11217327 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1487G>T (p.Gly496Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237543] |
Chr19:11113663 [GRCh38]
Chr19:11224339 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) |
single nucleotide variant |
Homozygous familial hypercholesterolemia [RCV004017549]|Hypercholesterolemia, familial, 1 [RCV000237544] |
Chr19:11110756 [GRCh38]
Chr19:11221432 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.108del (p.Asp36fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237545] |
Chr19:11100263 [GRCh38]
Chr19:11210939 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2308C>T (p.Gln770Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237546] |
Chr19:11123341 [GRCh38]
Chr19:11234017 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.568_590del (p.Phe190fs) |
deletion |
Familial hypercholesterolemia [RCV003741170]|Hypercholesterolemia, familial, 1 [RCV000237547] |
Chr19:11105472..11105494 [GRCh38]
Chr19:11216150..11216172 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001523920]|Hypercholesterolemia, familial, 1 [RCV000237548]|not provided [RCV003477855] |
Chr19:11113408 [GRCh38]
Chr19:11224084 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1379_1396delinsCAGCTTA (p.His460_Asp466delinsProAlaTer) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237549] |
Chr19:11113555..11113572 [GRCh38]
Chr19:11224231..11224248 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.283T>C (p.Cys95Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436070]|Hypercholesterolemia, familial, 1 [RCV000237550] |
Chr19:11102756 [GRCh38]
Chr19:11213432 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.772G>A (p.Glu258Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237551] |
Chr19:11106642 [GRCh38]
Chr19:11217318 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.195dup (p.Val66fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237552] |
Chr19:11102667..11102668 [GRCh38]
Chr19:11213344 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237553] |
Chr19:11089549 [GRCh38]
Chr19:11200225 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001057854]|Hypercholesterolemia, familial, 1 [RCV000237554] |
Chr19:11120432 [GRCh38]
Chr19:11231108 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2230del (p.Arg744fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237555] |
Chr19:11123261 [GRCh38]
Chr19:11233937 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1124A>C (p.Tyr375Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237556] |
Chr19:11111577 [GRCh38]
Chr19:11222253 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.646del (p.Cys216fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237557] |
Chr19:11105552 [GRCh38]
Chr19:11216228 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.941-2A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001034626]|Hypercholesterolemia, familial, 1 [RCV000237558]|not provided [RCV003477851] |
Chr19:11110650 [GRCh38]
Chr19:11221326 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237559] |
Chr19:11113696 [GRCh38]
Chr19:11224372 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.420G>T (p.Glu140Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001243628]|Hypercholesterolemia, familial, 1 [RCV000237560]|not provided [RCV000786159] |
Chr19:11105326 [GRCh38]
Chr19:11216002 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401933]|Familial hypercholesterolemia [RCV000586287]|Hypercholesterolemia, familial, 1 [RCV000237561] |
Chr19:11110767 [GRCh38]
Chr19:11221443 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1809G>C (p.Lys603Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237562] |
Chr19:11116962 [GRCh38]
Chr19:11227638 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.450dup (p.Ala151fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237563] |
Chr19:11105353..11105354 [GRCh38]
Chr19:11216032 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1097A>G (p.Gln366Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001192511]|Hypercholesterolemia, familial, 1 [RCV000237564] |
Chr19:11111550 [GRCh38]
Chr19:11222226 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1706-1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002401943]|Familial hypercholesterolemia [RCV000791379]|Hypercholesterolemia, familial, 1 [RCV000237565] |
Chr19:11116858 [GRCh38]
Chr19:11227534 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.303del (p.Glu101fs) |
deletion |
Familial hypercholesterolemia [RCV000776468]|Homozygous familial hypercholesterolemia [RCV004017539]|Hypercholesterolemia, familial, 1 [RCV000237566] |
Chr19:11102776 [GRCh38]
Chr19:11213452 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1988-52_2006del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237567] |
Chr19:11120318..11120388 [GRCh38]
Chr19:11230994..11231064 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.951del (p.Glu317fs) |
deletion |
Familial hypercholesterolemia [RCV003581612]|Hypercholesterolemia, familial, 1 [RCV000237568] |
Chr19:11110661 [GRCh38]
Chr19:11221337 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1186+1_1187-1)_(1845+1_1846-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237569] |
Chr19:11223953..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(?_-187)_(940+1_941-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237570] |
Chr19:11200038..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1853_1864del (p.Val618_Thr621del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237571] |
Chr19:11120097..11120108 [GRCh38]
Chr19:11230775..11230786 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001258046]|Hypercholesterolemia, familial, 1 [RCV000237572]|not provided [RCV000521276] |
Chr19:11120502 [GRCh38]
Chr19:11231178 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237573] |
Chr19:11120424 [GRCh38]
Chr19:11231100 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237574] |
Chr19:11116135..11116158 [GRCh38]
Chr19:11226812..11226835 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2420_2426del (p.Phe807fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237575] |
Chr19:11129540..11129546 [GRCh38]
Chr19:11240219..11240225 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001209830]|Hypercholesterolemia, familial, 1 [RCV000237577] |
Chr19:11113671 [GRCh38]
Chr19:11224347 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347936]|Familial hypercholesterolemia [RCV001201350]|Hypercholesterolemia, familial, 1 [RCV000237578] |
Chr19:11105440 [GRCh38]
Chr19:11216116 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.364A>T (p.Ile122Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237579] |
Chr19:11105270 [GRCh38]
Chr19:11215946 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854889]|Hypercholesterolemia, familial, 1 [RCV000237580] |
Chr19:11106616 [GRCh38]
Chr19:11217292 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1135_1186+14del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237581] |
Chr19:11111586..11111651 [GRCh38]
Chr19:11222262..11222327 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.643_644insATCCACTCAGCTGGC (p.Trp214_Arg215insHisProLeuSerTrp) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237582] |
Chr19:11105541..11105542 [GRCh38]
Chr19:11216225..11216226 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.850T>A (p.Cys284Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237583] |
Chr19:11107424 [GRCh38]
Chr19:11218100 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1060+16dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237584] |
Chr19:11110784..11110785 [GRCh38]
Chr19:11221460..11221461 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1236G>A (p.Met412Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237586] |
Chr19:11113327 [GRCh38]
Chr19:11224003 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.64del (p.Ala22fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237587] |
Chr19:11089612 [GRCh38]
Chr19:11200288 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1420C>T (p.Gln474Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237588] |
Chr19:11113596 [GRCh38]
Chr19:11224272 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401942]|Hypercholesterolemia, familial, 1 [RCV000237589] |
Chr19:11116212 [GRCh38]
Chr19:11226888 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.682del (p.Glu228fs) |
deletion |
Familial hypercholesterolemia [RCV001382076]|Hypercholesterolemia, familial, 1 [RCV000237590] |
Chr19:11105588 [GRCh38]
Chr19:11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401935]|Familial hypercholesterolemia [RCV001177034]|Hypercholesterolemia, familial, 1 [RCV000237591]|not provided [RCV004017558] |
Chr19:11113705 [GRCh38]
Chr19:11224381 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.383G>T (p.Cys128Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237592] |
Chr19:11105289 [GRCh38]
Chr19:11215965 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.451G>A (p.Ala151Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237593] |
Chr19:11105357 [GRCh38]
Chr19:11216033 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1592_1627del (p.Met531_Ile542del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237594] |
Chr19:11116096..11116131 [GRCh38]
Chr19:11226775..11226810 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.851G>C (p.Cys284Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237595] |
Chr19:11107425 [GRCh38]
Chr19:11218101 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1845G>A (p.Glu615=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411096]|Familial hypercholesterolemia [RCV001034634]|Hypercholesterolemia, familial, 1 [RCV000237596]|not provided [RCV003235161] |
Chr19:11116998 [GRCh38]
Chr19:11227674 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1778del (p.Gly593fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237597] |
Chr19:11116927 [GRCh38]
Chr19:11227603 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NR_163945.1(LDLR-AS1):n.250G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237598] |
Chr19:11089410 [GRCh38]
Chr19:11200086 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237599] |
Chr19:11100272 [GRCh38]
Chr19:11210948 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1009_1032del (p.Glu337_Phe344del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237600] |
Chr19:11110719..11110742 [GRCh38]
Chr19:11221396..11221419 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.310_313del (p.Cys104fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237601] |
Chr19:11102782..11102785 [GRCh38]
Chr19:11213459..11213462 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2311+1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002446479]|Familial hypercholesterolemia [RCV001385153]|Hypercholesterolemia, familial, 1 [RCV000237602] |
Chr19:11123345 [GRCh38]
Chr19:11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237603] |
Chr19:11113602 [GRCh38]
Chr19:11224278 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.672_683dup (p.Asp224_Asp227dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237604] |
Chr19:11105575..11105576 [GRCh38]
Chr19:11216254..11216265 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.880A>G (p.Lys294Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237605]|not provided [RCV003456384] |
Chr19:11107454 [GRCh38]
Chr19:11218130 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.618T>G (p.Ser206Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237606] |
Chr19:11105524 [GRCh38]
Chr19:11216200 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379061]|Familial hypercholesterolemia [RCV000775063]|Hypercholesterolemia, familial, 1 [RCV000237607]|LDLR-related condition [RCV003401205] |
Chr19:11113413 [GRCh38]
Chr19:11224089 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.941-12G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237608]|not provided [RCV003325476] |
Chr19:11110640 [GRCh38]
Chr19:11221316 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.536A>G (p.Glu179Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237609] |
Chr19:11105442 [GRCh38]
Chr19:11216118 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.313+69C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237610] |
Chr19:11102855 [GRCh38]
Chr19:11213531 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1209del (p.Phe403fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237611] |
Chr19:11113300 [GRCh38]
Chr19:11223976 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418066]|Familial hypercholesterolemia [RCV003581639]|Hypercholesterolemia, familial, 1 [RCV000237612] |
Chr19:11120427 [GRCh38]
Chr19:11231103 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321916]|Familial hypercholesterolemia [RCV002518484]|Hypercholesterolemia, familial, 1 [RCV000237613]|not provided [RCV003736671] |
Chr19:11111583 [GRCh38]
Chr19:11222259 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.244T>G (p.Cys82Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857820]|Hypercholesterolemia, familial, 1 [RCV000237614] |
Chr19:11102717 [GRCh38]
Chr19:11213393 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1958T>G (p.Val653Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237616] |
Chr19:11120204 [GRCh38]
Chr19:11230880 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.828C>G (p.Cys276Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237617] |
Chr19:11107402 [GRCh38]
Chr19:11218078 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.915G>C (p.Trp305Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237618] |
Chr19:11107489 [GRCh38]
Chr19:11218165 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.671A>C (p.Asp224Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237619] |
Chr19:11105577 [GRCh38]
Chr19:11216253 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(694+1_695-1)_(940+1_941-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237620] |
Chr19:11217240..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450752]|Familial hypercholesterolemia [RCV001857833]|Hypercholesterolemia, familial, 1 [RCV000237621]|not provided [RCV002223829] |
Chr19:11129561 [GRCh38]
Chr19:11240237 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| c.(67+1_68-1)_(2547+1_2548-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237622] |
Chr19:11210898..11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2013_2014del (p.Leu672fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237623] |
Chr19:11120394..11120395 [GRCh38]
Chr19:11231071..11231072 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.314-2A>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002321913]|Familial hypercholesterolemia [RCV000775035]|Homozygous familial hypercholesterolemia [RCV004017541]|Hypercholesterolemia, familial, 1 [RCV000237624]|not provided [RCV001764224] |
Chr19:11105218 [GRCh38]
Chr19:11215894 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.482_488del (p.Ile161fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237625] |
Chr19:11105386..11105392 [GRCh38]
Chr19:11216064..11216070 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401941]|Familial hypercholesterolemia [RCV000799671]|Hypercholesterolemia, familial, 1 [RCV000237626] |
Chr19:11116209 [GRCh38]
Chr19:11226885 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1533dup (p.Phe512fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237627] |
Chr19:11113708..11113709 [GRCh38]
Chr19:11224385 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372667]|Familial hypercholesterolemia [RCV002518495]|Hypercholesterolemia, familial, 1 [RCV000237628] |
Chr19:11120495 [GRCh38]
Chr19:11231171 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| c.(1586+1_1587-1)_(*2514_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237629] |
Chr19:11226769..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237630] |
Chr19:11116179 [GRCh38]
Chr19:11226855 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237631] |
Chr19:11113625 [GRCh38]
Chr19:11224301 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2364G>T (p.Arg788Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237632] |
Chr19:11128060 [GRCh38]
Chr19:11238736 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.172del (p.Glu58fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237633] |
Chr19:11100327 [GRCh38]
Chr19:11211003 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1343del (p.Gln448fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237634] |
Chr19:11113434 [GRCh38]
Chr19:11224110 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(?_-187)_(67+1_68-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237635] |
Chr19:11200038..11200292 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.810C>T (p.Cys270=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418054]|Familial hypercholesterolemia [RCV001190238]|Hypercholesterolemia, familial, 1 [RCV000237636] |
Chr19:11106680 [GRCh38]
Chr19:11217356 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429178]|Familial hypercholesterolemia [RCV003581646]|Hypercholesterolemia, familial, 1 [RCV000237637]|not provided [RCV001509016]|not specified [RCV000456063] |
Chr19:11129629 [GRCh38]
Chr19:11240305 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.743G>A (p.Cys248Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237638] |
Chr19:11106613 [GRCh38]
Chr19:11217289 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001068739]|Hypercholesterolemia, familial, 1 [RCV000237639] |
Chr19:11113365 [GRCh38]
Chr19:11224041 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1358+1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581623]|Homozygous familial hypercholesterolemia [RCV004017556]|Hypercholesterolemia, familial, 1 [RCV000237640]|not provided [RCV002479949] |
Chr19:11113450 [GRCh38]
Chr19:11224126 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.664_681delinsCCGACTG (p.Cys222fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237641] |
Chr19:11105570..11105587 [GRCh38]
Chr19:11216246..11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| FH Tonami 1 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237642] |
Chr19:11233849..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2312-136A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237643] |
Chr19:11127872 [GRCh38]
Chr19:11238548 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519849]|Hypercholesterolemia, familial, 1 [RCV000237644] |
Chr19:11113752 [GRCh38]
Chr19:11224428 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.4(LDLR):c.67+3968_940+296dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237645] |
Chr19:11093583..11107810 [GRCh38]
Chr19:11204259..11218486 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581613]|Hypercholesterolemia, familial, 1 [RCV000237646] |
Chr19:11110676 [GRCh38]
Chr19:11221352 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356332]|Familial hypercholesterolemia [RCV003581605]|Hypercholesterolemia, familial, 1 [RCV000237647] |
Chr19:11105517 [GRCh38]
Chr19:11216193 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.939_940+3del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237648] |
Chr19:11107510..11107514 [GRCh38]
Chr19:11218186..11218190 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.416A>T (p.Asp139Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237650] |
Chr19:11105322 [GRCh38]
Chr19:11215998 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.737del (p.Gly246fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237651] |
Chr19:11106606 [GRCh38]
Chr19:11217282 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1745_1746del (p.Leu582fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237652] |
Chr19:11116898..11116899 [GRCh38]
Chr19:11227574..11227575 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001523919]|Hypercholesterolemia, familial, 1 [RCV000237653] |
Chr19:11111516 [GRCh38]
Chr19:11222192 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1841_1842del (p.Val613_Phe614insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237655] |
Chr19:11116993..11116994 [GRCh38]
Chr19:11227670..11227671 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1927G>C (p.Ala643Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237656] |
Chr19:11120173 [GRCh38]
Chr19:11230849 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.326G>T (p.Cys109Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237657] |
Chr19:11105232 [GRCh38]
Chr19:11215908 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(1845+1_1846-1)_(*2514_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237658] |
Chr19:11230767..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.388T>C (p.Ser130Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237659] |
Chr19:11105294 [GRCh38]
Chr19:11215970 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857821]|Hypercholesterolemia, familial, 1 [RCV000237660] |
Chr19:11102741 [GRCh38]
Chr19:11213417 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.584G>A (p.Ser195Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237661] |
Chr19:11105490 [GRCh38]
Chr19:11216166 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001067561]|Hypercholesterolemia, familial, 1 [RCV000237662] |
Chr19:11111627 [GRCh38]
Chr19:11222303 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237663] |
Chr19:11120399 [GRCh38]
Chr19:11231075 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804975]|Hypercholesterolemia, familial, 1 [RCV000237664] |
Chr19:11110718 [GRCh38]
Chr19:11221394 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.493T>G (p.Trp165Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237665] |
Chr19:11105399 [GRCh38]
Chr19:11216075 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2167del (p.Glu723fs) |
deletion |
Cardiovascular phenotype [RCV002429176]|Hypercholesterolemia, familial, 1 [RCV000237666] |
Chr19:11123199 [GRCh38]
Chr19:11233875 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) |
deletion |
Cardiovascular phenotype [RCV002429166]|Familial hypercholesterolemia [RCV000791390]|Hypercholesterolemia, familial, 1 [RCV000237667]|not provided [RCV000481990] |
Chr19:11102728..11102736 [GRCh38]
Chr19:11213406..11213414 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.391G>C (p.Asp131His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237668] |
Chr19:11105297 [GRCh38]
Chr19:11215973 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| c.(67+1_68-1)_(694+1_695-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237669] |
Chr19:11210898..11216277 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237670] |
Chr19:11116945 [GRCh38]
Chr19:11227621 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327175]|Familial hypercholesterolemia [RCV001854887]|Hypercholesterolemia, familial, 1 [RCV000237671]|not provided [RCV000712214] |
Chr19:11105369 [GRCh38]
Chr19:11216045 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(2311+1_2312-1)_(*220_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237672] |
Chr19:11238683..11242212 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.862G>T (p.Glu288Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237673] |
Chr19:11107436 [GRCh38]
Chr19:11218112 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1609G>T (p.Gly537Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237674] |
Chr19:11116116 [GRCh38]
Chr19:11226792 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1151_1159del (p.Gln384_Asp386del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237675] |
Chr19:11111602..11111610 [GRCh38]
Chr19:11222280..11222288 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020957]|Familial hypercholesterolemia [RCV001797694]|Hypercholesterolemia, familial, 1 [RCV000237676]|not provided [RCV002261021] |
Chr19:11110727 [GRCh38]
Chr19:11221403 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237677] |
Chr19:11120414 [GRCh38]
Chr19:11231090 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1438G>C (p.Ala480Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237678] |
Chr19:11113614 [GRCh38]
Chr19:11224290 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1223A>C (p.Glu408Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237679] |
Chr19:11113314 [GRCh38]
Chr19:11223990 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001389976]|Hypercholesterolemia, familial, 1 [RCV000237680] |
Chr19:11113419 [GRCh38]
Chr19:11224095 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NR_163945.1(LDLR-AS1):n.265_266delinsAGGAGTTTGCAGAA |
indel |
Hypercholesterolemia, familial, 1 [RCV000237681] |
Chr19:11089394..11089395 [GRCh38]
Chr19:11200070..11200071 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1186+1del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237682] |
Chr19:11111638 [GRCh38]
Chr19:11222314 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2054del (p.Pro685fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237683] |
Chr19:11120433 [GRCh38]
Chr19:11231109 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581607]|Hypercholesterolemia, familial, 1 [RCV000237684] |
Chr19:11105535 [GRCh38]
Chr19:11216211 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2140G>A (p.Glu714Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237685] |
Chr19:11120522 [GRCh38]
Chr19:11231198 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1068delinsAGAGTGTCAGGATCCCGAC (p.Ile355_Asp356insGluGluCysGlnAspPro) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237686] |
Chr19:11111521 [GRCh38]
Chr19:11222197 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1820A>G (p.His607Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237687] |
Chr19:11116973 [GRCh38]
Chr19:11227649 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1966C>A (p.His656Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418057]|Familial hypercholesterolemia [RCV001242724]|Hypercholesterolemia, familial, 1 [RCV000237688]|not provided [RCV000786344] |
Chr19:11120212 [GRCh38]
Chr19:11230888 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.677C>G (p.Ser226Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237689] |
Chr19:11105583 [GRCh38]
Chr19:11216259 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1705+112C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237690] |
Chr19:11116324 [GRCh38]
Chr19:11227000 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000823784]|Hypercholesterolemia, familial, 1 [RCV000237691] |
Chr19:11105406 [GRCh38]
Chr19:11216082 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.940+14del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237692] |
Chr19:11107528 [GRCh38]
Chr19:11218204 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002321914]|Familial hypercholesterolemia [RCV001824705]|Hypercholesterolemia, familial, 1 [RCV000237693]|not provided [RCV001256969] |
Chr19:11105219 [GRCh38]
Chr19:11215895 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237694] |
Chr19:11113728 [GRCh38]
Chr19:11224404 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.185_186insT (p.Cys63fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237695] |
Chr19:11100340..11100341 [GRCh38]
Chr19:11211016..11211017 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854894]|Hypercholesterolemia, familial, 1 [RCV000237696] |
Chr19:11107469 [GRCh38]
Chr19:11218145 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.675del (p.Lys225fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237697] |
Chr19:11105579 [GRCh38]
Chr19:11216255 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1860G>C (p.Trp620Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237698] |
Chr19:11120106 [GRCh38]
Chr19:11230782 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392740]|Familial hypercholesterolemia [RCV001190236]|Homozygous familial hypercholesterolemia [RCV000844739]|Hypercholesterolemia, familial, 1 [RCV000237699] |
Chr19:11106631 [GRCh38]
Chr19:11217307 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.690C>T (p.Asn230=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519842]|Hypercholesterolemia, familial, 1 [RCV000237700] |
Chr19:11105596 [GRCh38]
Chr19:11216272 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.68-2A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237701] |
Chr19:11100221 [GRCh38]
Chr19:11210897 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.465C>A (p.Cys155Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237702] |
Chr19:11105371 [GRCh38]
Chr19:11216047 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| FH Tsukuba 2 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237703] |
Chr19:11238683..11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.790A>G (p.Met264Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237704] |
Chr19:11106660 [GRCh38]
Chr19:11217336 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.137G>A (p.Cys46Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237705] |
Chr19:11100292 [GRCh38]
Chr19:11210968 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237706] |
Chr19:11129569 [GRCh38]
Chr19:11240245 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000781505]|Hypercholesterolemia, familial, 1 [RCV000237707] |
Chr19:11113639 [GRCh38]
Chr19:11224315 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.232del (p.Arg78fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237708] |
Chr19:11102704 [GRCh38]
Chr19:11213380 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365245]|Familial hypercholesterolemia [RCV000775249]|Homozygous familial hypercholesterolemia [RCV004017548]|Hypercholesterolemia, familial, 1 [RCV000237709] |
Chr19:11110730 [GRCh38]
Chr19:11221406 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237710] |
Chr19:11116110 [GRCh38]
Chr19:11226786 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1186+5G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001039692]|Hypercholesterolemia, familial, 1 [RCV000237711] |
Chr19:11111644 [GRCh38]
Chr19:11222320 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429173]|Familial hypercholesterolemia [RCV000781493]|Hypercholesterolemia, familial, 1 [RCV000237712]|not provided [RCV001800607] |
Chr19:11111556 [GRCh38]
Chr19:11222232 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1586+2T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237713] |
Chr19:11113764 [GRCh38]
Chr19:11224440 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.971del (p.Gly324fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237714] |
Chr19:11110681 [GRCh38]
Chr19:11221357 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.623_644del (p.Glu208fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237715] |
Chr19:11105524..11105545 [GRCh38]
Chr19:11216205..11216226 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237716] |
Chr19:11213339..11217364 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1689dup (p.Asn564fs) |
duplication |
Familial hypercholesterolemia [RCV003581631]|Hypercholesterolemia, familial, 1 [RCV000237717] |
Chr19:11116193..11116194 [GRCh38]
Chr19:11226872 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+2_2389+5delinsGGCCCCAT |
indel |
Hypercholesterolemia, familial, 1 [RCV000237718] |
Chr19:11128087..11128090 [GRCh38]
Chr19:11238763..11238766 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.190+2_190+3dup |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000237719] |
Chr19:11100344..11100345 [GRCh38]
Chr19:11211020..11211021 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.818-1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002429170]|Familial hypercholesterolemia [RCV001206766]|Hypercholesterolemia, familial, 1 [RCV000237720] |
Chr19:11107391 [GRCh38]
Chr19:11218067 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1359-29G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001526180]|Hypercholesterolemia, familial, 1 [RCV000237721] |
Chr19:11113506 [GRCh38]
Chr19:11224182 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003235162]|Hypercholesterolemia, familial, 1 [RCV000237722]|not provided [RCV002461042] |
Chr19:11120188 [GRCh38]
Chr19:11230864 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(67+1_68-1)_(817+1_818-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237723] |
Chr19:11210898..11217364 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1705+1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237724] |
Chr19:11116213 [GRCh38]
Chr19:11226889 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2178del (p.Val727fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237725] |
Chr19:11123210 [GRCh38]
Chr19:11233886 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436071]|Familial hypercholesterolemia [RCV000775029]|Hypercholesterolemia, familial, 1 [RCV000237726] |
Chr19:11102757 [GRCh38]
Chr19:11213433 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237727] |
Chr19:11116937 [GRCh38]
Chr19:11227613 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-268G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000858302]|Hypercholesterolemia, familial, 1 [RCV000237728] |
Chr19:11089281 [GRCh38]
Chr19:11199957 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379064]|Familial hypercholesterolemia [RCV000791422]|Homozygous familial hypercholesterolemia [RCV000844741]|Hypercholesterolemia, familial, 1 [RCV000237729]|not provided [RCV000494596] |
Chr19:11113420 [GRCh38]
Chr19:11224096 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365244]|Familial hypercholesterolemia [RCV000589507]|Hypercholesterolemia, familial, 1 [RCV000237730] |
Chr19:11110723 [GRCh38]
Chr19:11221399 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2030_2042del (p.Cys677fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237731] |
Chr19:11120412..11120424 [GRCh38]
Chr19:11231088..11231100 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.706T>C (p.Cys236Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237732] |
Chr19:11106576 [GRCh38]
Chr19:11217252 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.674_681dup (p.Glu228fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237733] |
Chr19:11105579..11105580 [GRCh38]
Chr19:11216256..11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1946del (p.Pro649fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237734] |
Chr19:11120189 [GRCh38]
Chr19:11230865 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237735] |
Chr19:11113642 [GRCh38]
Chr19:11224318 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.599T>G (p.Phe200Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581604]|Hypercholesterolemia, familial, 1 [RCV000237736]|LDLR-related condition [RCV003391006] |
Chr19:11105505 [GRCh38]
Chr19:11216181 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1859G>A (p.Trp620Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581634]|Hypercholesterolemia, familial, 1 [RCV000237737] |
Chr19:11120105 [GRCh38]
Chr19:11230781 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237738] |
Chr19:11113734 [GRCh38]
Chr19:11224410 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(?_-187)_*2584del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237739] |
Chr19:11200038..11244576 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.402C>G (p.Cys134Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237740] |
Chr19:11105308 [GRCh38]
Chr19:11215984 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237741] |
Chr19:11129596 [GRCh38]
Chr19:11240272 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1070_1073dup (p.Cys358Ter) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237742] |
Chr19:11111520..11111521 [GRCh38]
Chr19:11222199..11222202 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775073]|Hypercholesterolemia, familial, 1 [RCV000237743] |
Chr19:11116106 [GRCh38]
Chr19:11226782 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429161]|Familial hypercholesterolemia [RCV000775250]|Hypercholesterolemia, familial, 1 [RCV000237744] |
Chr19:11100236 [GRCh38]
Chr19:11210912 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.940+1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237745] |
Chr19:11107515 [GRCh38]
Chr19:11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.977C>T (p.Ser326Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237746] |
Chr19:11110688 [GRCh38]
Chr19:11221364 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.517T>G (p.Cys173Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237747] |
Chr19:11105423 [GRCh38]
Chr19:11216099 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.320_332del (p.Lys107fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237749] |
Chr19:11105222..11105234 [GRCh38]
Chr19:11215902..11215914 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1587-51G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237750] |
Chr19:11116043 [GRCh38]
Chr19:11226719 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411078]|Hypercholesterolemia, familial, 1 [RCV000237751] |
Chr19:11100343 [GRCh38]
Chr19:11211019 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1754T>A (p.Ile585Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237752] |
Chr19:11116907 [GRCh38]
Chr19:11227583 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer) |
indel |
Familial hypercholesterolemia [RCV001386877]|Hypercholesterolemia, familial, 1 [RCV000237753] |
Chr19:11102734..11102735 [GRCh38]
Chr19:11213410..11213411 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429177]|Familial hypercholesterolemia [RCV000808288]|Hypercholesterolemia, familial, 1 [RCV000237754] |
Chr19:11128085 [GRCh38]
Chr19:11238761 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165669]|Hypercholesterolemia, familial, 1 [RCV000237755] |
Chr19:11116193 [GRCh38]
Chr19:11226869 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2547+1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001043694]|Hypercholesterolemia, familial, 1 [RCV000237756]|not provided [RCV003480571] |
Chr19:11129671 [GRCh38]
Chr19:11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2266del (p.Thr756fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237757] |
Chr19:11123299 [GRCh38]
Chr19:11233975 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.291C>T (p.Asn97=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436072]|Familial hypercholesterolemia [RCV000861214]|Hypercholesterolemia, familial, 1 [RCV000237758] |
Chr19:11102764 [GRCh38]
Chr19:11213440 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1935_1936insA (p.Leu646fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237759] |
Chr19:11120181..11120182 [GRCh38]
Chr19:11230857..11230858 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1997G>T (p.Trp666Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237760] |
Chr19:11120379 [GRCh38]
Chr19:11231055 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.666_687del (p.Asp221_Cys222insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237761] |
Chr19:11105572..11105593 [GRCh38]
Chr19:11216248..11216269 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.902A>C (p.Asp301Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237762] |
Chr19:11107476 [GRCh38]
Chr19:11218152 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1291_1331del (p.Val430_Ala431insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237763] |
Chr19:11113377..11113417 [GRCh38]
Chr19:11224058..11224098 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1749C>A (p.His583Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237764] |
Chr19:11116902 [GRCh38]
Chr19:11227578 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775021]|Hypercholesterolemia, familial, 1 [RCV000237765]|not specified [RCV002307470] |
Chr19:11100246 [GRCh38]
Chr19:11210922 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.503A>G (p.Asp168Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186870]|Hypercholesterolemia, familial, 1 [RCV000237766] |
Chr19:11105409 [GRCh38]
Chr19:11216085 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1468T>G (p.Trp490Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237767] |
Chr19:11113644 [GRCh38]
Chr19:11224320 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.917C>G (p.Ser306Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237768] |
Chr19:11107491 [GRCh38]
Chr19:11218167 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.797A>T (p.Asp266Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237769] |
Chr19:11106667 [GRCh38]
Chr19:11217343 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000824031]|Hypercholesterolemia, familial, 1 [RCV000237770] |
Chr19:11111562 [GRCh38]
Chr19:11222238 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1845+1G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857830]|Hypercholesterolemia, familial, 1 [RCV000237771] |
Chr19:11116999 [GRCh38]
Chr19:11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.969C>T (p.Gly323=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374403]|Familial hypercholesterolemia [RCV001186223]|Hypercholesterolemia, familial, 1 [RCV000237772] |
Chr19:11110680 [GRCh38]
Chr19:11221356 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519853]|Hypercholesterolemia, familial, 1 [RCV000237773] |
Chr19:11120475 [GRCh38]
Chr19:11231151 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804973]|Hypercholesterolemia, familial, 1 [RCV000237774] |
Chr19:11105252 [GRCh38]
Chr19:11215928 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356331]|Familial hypercholesterolemia [RCV001065691]|Hypercholesterolemia, familial, 1 [RCV000237775] |
Chr19:11105497 [GRCh38]
Chr19:11216173 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2549G>A (p.Arg850Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237776] |
Chr19:11131282 [GRCh38]
Chr19:11241958 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.311G>T (p.Cys104Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237777] |
Chr19:11102784 [GRCh38]
Chr19:11213460 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1359-3C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182460]|Hypercholesterolemia, familial, 1 [RCV000237778] |
Chr19:11113532 [GRCh38]
Chr19:11224208 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237779] |
Chr19:11113280 [GRCh38]
Chr19:11223956 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2389+4A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002450747]|Familial hypercholesterolemia [RCV000812185]|Hypercholesterolemia, familial, 1 [RCV000237780] |
Chr19:11128089 [GRCh38]
Chr19:11238765 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) |
duplication |
Familial hypercholesterolemia [RCV001854905]|Hypercholesterolemia, familial, 1 [RCV000237781]|not provided [RCV001753713] |
Chr19:11116189..11116190 [GRCh38]
Chr19:11226867..11226869 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020951]|Homozygous familial hypercholesterolemia [RCV004017544]|Hypercholesterolemia, familial, 1 [RCV000237782] |
Chr19:11105425 [GRCh38]
Chr19:11216101 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.919G>C (p.Asp307His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854895]|Hypercholesterolemia, familial, 1 [RCV000237783] |
Chr19:11107493 [GRCh38]
Chr19:11218169 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1730_1738del (p.Trp577_Asp579del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237784] |
Chr19:11116880..11116888 [GRCh38]
Chr19:11227559..11227567 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2186dup (p.Val731fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237785] |
Chr19:11123218..11123219 [GRCh38]
Chr19:11233895 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2548-42A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237786] |
Chr19:11131239 [GRCh38]
Chr19:11241915 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001192330]|Hypercholesterolemia, familial, 1 [RCV000237787]|not provided [RCV003441826] |
Chr19:11120408 [GRCh38]
Chr19:11231084 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1046del (p.Gln349fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237788] |
Chr19:11110757 [GRCh38]
Chr19:11221433 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1586+1_1587-1)_(1705+1_1706-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237789] |
Chr19:11226769..11226889 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.347G>T (p.Cys116Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237790] |
Chr19:11105253 [GRCh38]
Chr19:11215929 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(1186+1_1187-1)_(*2514_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237791] |
Chr19:11223953..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.28T>C (p.Trp10Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436068]|Hypercholesterolemia, familial, 1 [RCV000237793]|not provided [RCV001699170] |
Chr19:11089576 [GRCh38]
Chr19:11200252 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1383C>T (p.Gly461=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020965]|Hypercholesterolemia, familial, 1 [RCV000237794] |
Chr19:11113559 [GRCh38]
Chr19:11224235 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1999T>A (p.Cys667Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237795] |
Chr19:11120381 [GRCh38]
Chr19:11231057 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.703dup (p.Thr235fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237796] |
Chr19:11106572..11106573 [GRCh38]
Chr19:11217249 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(?_-187)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237797] |
Chr19:11200038..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.664T>G (p.Cys222Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237798] |
Chr19:11105570 [GRCh38]
Chr19:11216246 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1186+29C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237799] |
Chr19:11111668 [GRCh38]
Chr19:11222344 [GRCh37]
Chr19:19p13.2 |
likely benign |
| c.(190+1_191-1)_(1060+1_1061-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237800] |
Chr19:11213339..11221448 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392744]|Hypercholesterolemia, familial, 1 [RCV000237801]|not provided [RCV001509010] |
Chr19:11113678 [GRCh38]
Chr19:11224354 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237802] |
Chr19:11129515..11129523 [GRCh38]
Chr19:11240191..11240199 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1829_1831del (p.Ser610del) |
deletion |
Familial hypercholesterolemia [RCV000791980]|Hypercholesterolemia, familial, 1 [RCV000237803] |
Chr19:11116980..11116982 [GRCh38]
Chr19:11227658..11227660 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| c.(817+1_818-1)_(940+1_941-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237804] |
Chr19:11218067..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237805] |
Chr19:11111589 [GRCh38]
Chr19:11222265 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379062]|Familial hypercholesterolemia [RCV001368837]|Hypercholesterolemia, familial, 1 [RCV000237806] |
Chr19:11113415 [GRCh38]
Chr19:11224091 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418052]|Familial hypercholesterolemia [RCV000793174]|Hypercholesterolemia, familial, 1 [RCV000237807] |
Chr19:11106666 [GRCh38]
Chr19:11217342 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1644T>A (p.Asn548Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237808] |
Chr19:11116151 [GRCh38]
Chr19:11226827 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1823C>G (p.Pro608Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237810] |
Chr19:11116976 [GRCh38]
Chr19:11227652 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2132G>C (p.Cys711Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237812] |
Chr19:11120514 [GRCh38]
Chr19:11231190 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.431_434dup (p.Leu146fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237813] |
Chr19:11105336..11105337 [GRCh38]
Chr19:11216013..11216016 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(940+1_941-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237814] |
Chr19:11221327..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321911]|Familial hypercholesterolemia [RCV000775033]|Hypercholesterolemia, familial, 1 [RCV000237815]|not provided [RCV002281078]|not specified [RCV000781506] |
Chr19:11102786 [GRCh38]
Chr19:11213462 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.523G>T (p.Asp175Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237816] |
Chr19:11105429 [GRCh38]
Chr19:11216105 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411103]|Familial hypercholesterolemia [RCV001857832]|Hypercholesterolemia, familial, 1 [RCV000237817] |
Chr19:11120129 [GRCh38]
Chr19:11230805 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1975_1987+16del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237818] |
Chr19:11120220..11120248 [GRCh38]
Chr19:11230897..11230925 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2399T>A (p.Val800Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237819] |
Chr19:11129522 [GRCh38]
Chr19:11240198 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.693C>G (p.Cys231Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374397]|Hypercholesterolemia, familial, 1 [RCV000237820] |
Chr19:11105599 [GRCh38]
Chr19:11216275 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2055del (p.Gln686fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237821] |
Chr19:11120437 [GRCh38]
Chr19:11231113 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1990G>A (p.Val664Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519852]|Hypercholesterolemia, familial, 1 [RCV000237822] |
Chr19:11120372 [GRCh38]
Chr19:11231048 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.458T>G (p.Phe153Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237823] |
Chr19:11105364 [GRCh38]
Chr19:11216040 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237825] |
Chr19:11113386 [GRCh38]
Chr19:11224062 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1060+39C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237826] |
Chr19:11110810 [GRCh38]
Chr19:11221486 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165664]|Familial hypercholesterolemia [RCV001042933]|Hypercholesterolemia, familial, 1 [RCV000237827]|not provided [RCV003313061] |
Chr19:11105273 [GRCh38]
Chr19:11215949 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581608]|Hypercholesterolemia, familial, 1 [RCV000237828] |
Chr19:11105598 [GRCh38]
Chr19:11216274 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1434del (p.Leu479fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237829] |
Chr19:11113608 [GRCh38]
Chr19:11224284 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1503G>A (p.Ala501=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298316]|Familial hypercholesterolemia [RCV001188900]|Hypercholesterolemia, familial, 1 [RCV000237830]|not provided [RCV001727654]|not specified [RCV001193180] |
Chr19:11113679 [GRCh38]
Chr19:11224355 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.-68A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237831] |
Chr19:11089481 [GRCh38]
Chr19:11200157 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1886T>G (p.Phe629Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854908]|Hypercholesterolemia, familial, 1 [RCV000237832] |
Chr19:11120132 [GRCh38]
Chr19:11230808 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| c.(190+1_191-1)_(1586+1_1587-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237833] |
Chr19:11213339..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1297G>T (p.Asp433Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237834] |
Chr19:11113388 [GRCh38]
Chr19:11224064 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237835] |
Chr19:11129520..11129535 [GRCh38]
Chr19:11240196..11240211 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1214A>C (p.Asn405Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237836] |
Chr19:11113305 [GRCh38]
Chr19:11223981 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1115_1123delinsCACTGA (p.Glu372_Tyr375delinsAlaLeuAsn) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237837] |
Chr19:11111568..11111576 [GRCh38]
Chr19:11222244..11222252 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2089G>C (p.Ala697Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237838] |
Chr19:11120471 [GRCh38]
Chr19:11231147 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.370C>G (p.Arg124Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237839] |
Chr19:11105276 [GRCh38]
Chr19:11215952 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.544C>T (p.Gln182Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581603]|Hypercholesterolemia, familial, 1 [RCV000237840] |
Chr19:11105450 [GRCh38]
Chr19:11216126 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.817+1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001193787]|Hypercholesterolemia, familial, 1 [RCV000237841] |
Chr19:11106688 [GRCh38]
Chr19:11217364 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(940+1_941-1)_(2311+1_2312-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237842] |
Chr19:11221327..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001223410]|Hypercholesterolemia, familial, 1 [RCV000237843]|not provided [RCV001800609] |
Chr19:11116880 [GRCh38]
Chr19:11227556 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.230del (p.Gly77fs) |
deletion |
Familial hypercholesterolemia [RCV000589330]|Hypercholesterolemia, familial, 1 [RCV000237844] |
Chr19:11102699 [GRCh38]
Chr19:11213375 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1640_1652delinsAGCGTCATCTTCCTGAC (p.Leu547fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237845] |
Chr19:11116147..11116159 [GRCh38]
Chr19:11226823..11226835 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165670]|Familial hypercholesterolemia [RCV002518488]|Hypercholesterolemia, familial, 1 [RCV000237846] |
Chr19:11116949 [GRCh38]
Chr19:11227625 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.296_297del (p.Gly98_Ser99insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237847] |
Chr19:11102769..11102770 [GRCh38]
Chr19:11213445..11213446 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1053_1060dup (p.Ile355fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237848] |
Chr19:11110757..11110758 [GRCh38]
Chr19:11221440..11221447 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.132_133dup (p.Val45fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237849] |
Chr19:11100285..11100286 [GRCh38]
Chr19:11210961..11210962 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020954]|Hypercholesterolemia, familial, 1 [RCV000237850]|not provided [RCV003456385] |
Chr19:11107472 [GRCh38]
Chr19:11218148 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.611G>A (p.Cys204Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237851] |
Chr19:11105517 [GRCh38]
Chr19:11216193 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.195_196insA (p.Val66fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237852] |
Chr19:11102668..11102669 [GRCh38]
Chr19:11213344..11213345 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.527G>T (p.Gly176Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237853] |
Chr19:11105433 [GRCh38]
Chr19:11216109 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2408_2409dup (p.Leu804fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237854] |
Chr19:11129530..11129531 [GRCh38]
Chr19:11240207..11240208 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237855] |
Chr19:11100292..11100297 [GRCh38]
Chr19:11210970..11210975 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1846-2A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237856] |
Chr19:11120090 [GRCh38]
Chr19:11230766 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs) |
duplication |
Familial hypercholesterolemia [RCV000792875]|Hypercholesterolemia, familial, 1 [RCV000237857] |
Chr19:11111571..11111572 [GRCh38]
Chr19:11222249..11222252 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.952T>C (p.Cys318Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237858]|not provided [RCV000521691] |
Chr19:11110663 [GRCh38]
Chr19:11221339 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1367T>A (p.Leu456His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237859] |
Chr19:11113543 [GRCh38]
Chr19:11224219 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.724C>T (p.Gln242Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237860] |
Chr19:11106594 [GRCh38]
Chr19:11217270 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186236]|Hypercholesterolemia, familial, 1 [RCV000237861]|not specified [RCV000455106] |
Chr19:11123258 [GRCh38]
Chr19:11233934 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.-215A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237862] |
Chr19:11089334 [GRCh38]
Chr19:11200010 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1737C>G (p.Asp579Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237863] |
Chr19:11116890 [GRCh38]
Chr19:11227566 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.356_362del (p.Gly119fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237864] |
Chr19:11105260..11105266 [GRCh38]
Chr19:11215938..11215944 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446478]|Familial hypercholesterolemia [RCV001350143]|Hypercholesterolemia, familial, 1 [RCV000237865] |
Chr19:11113368 [GRCh38]
Chr19:11224044 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1510A>T (p.Lys504Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237866] |
Chr19:11113686 [GRCh38]
Chr19:11224362 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1766_1767del (p.Asp589fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237867] |
Chr19:11116919..11116920 [GRCh38]
Chr19:11227595..11227596 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418061]|Hypercholesterolemia, familial, 1 [RCV000237868] |
Chr19:11120383 [GRCh38]
Chr19:11231059 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581624]|Hypercholesterolemia, familial, 1 [RCV000237869] |
Chr19:11113579 [GRCh38]
Chr19:11224255 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.47T>C (p.Leu16Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237870] |
Chr19:11089595 [GRCh38]
Chr19:11200271 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1056_1060+3del |
deletion |
Cardiovascular phenotype [RCV002401932]|Familial hypercholesterolemia [RCV000589532]|Homozygous familial hypercholesterolemia [RCV000844740]|Hypercholesterolemia, familial, 1 [RCV000237871]|not provided [RCV001820791] |
Chr19:11110765..11110772 [GRCh38]
Chr19:11221443..11221450 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1911C>T (p.Ser637=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411106]|Familial hypercholesterolemia [RCV000775080]|Hypercholesterolemia, familial, 1 [RCV000237872] |
Chr19:11120157 [GRCh38]
Chr19:11230833 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002251448]|Hypercholesterolemia, familial, 1 [RCV000237873]|not provided [RCV002223827] |
Chr19:11107506 [GRCh38]
Chr19:11218182 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.825_826del (p.Cys276fs) |
microsatellite |
Cardiovascular phenotype [RCV002429171]|Hypercholesterolemia, familial, 1 [RCV000237874] |
Chr19:11107397..11107398 [GRCh38]
Chr19:11218073..11218074 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1833G>T (p.Leu611Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411094]|Hypercholesterolemia, familial, 1 [RCV000237875] |
Chr19:11116986 [GRCh38]
Chr19:11227662 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436069]|Familial hypercholesterolemia [RCV001230907]|Hypercholesterolemia, familial, 1 [RCV000237876] |
Chr19:11100255 [GRCh38]
Chr19:11210931 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.985T>G (p.Cys329Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237877] |
Chr19:11110696 [GRCh38]
Chr19:11221372 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429172]|Hypercholesterolemia, familial, 1 [RCV000237878]|not provided [RCV003228919] |
Chr19:11107401 [GRCh38]
Chr19:11218077 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1759del (p.Ser587fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237879] |
Chr19:11116911 [GRCh38]
Chr19:11227587 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1586+1_1587-1)_(2140+1_2141-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237880] |
Chr19:11226769..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.299A>G (p.Asp100Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237881] |
Chr19:11102772 [GRCh38]
Chr19:11213448 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1661C>A (p.Ser554Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237882] |
Chr19:11116168 [GRCh38]
Chr19:11226844 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) |
duplication |
Familial hypercholesterolemia [RCV000588151]|Hypercholesterolemia, familial, 1 [RCV000237884]|LDLR-related condition [RCV003897580] |
Chr19:11105573..11105574 [GRCh38]
Chr19:11216251..11216262 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(1186+1_1187-1)_(1358+1_1359-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237885] |
Chr19:11223953..11224126 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.*43G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237886] |
Chr19:11131359 [GRCh38]
Chr19:11242035 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2294T>G (p.Val765Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237887] |
Chr19:11123327 [GRCh38]
Chr19:11234003 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2108_2114dup (p.Arg706fs) |
duplication |
Cardiovascular phenotype [RCV004020973]|Familial hypercholesterolemia [RCV001051686]|Hypercholesterolemia, familial, 1 [RCV000237888] |
Chr19:11120487..11120488 [GRCh38]
Chr19:11231166..11231172 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.601G>A (p.Glu201Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237889]|not provided [RCV001840429] |
Chr19:11105507 [GRCh38]
Chr19:11216183 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001050137]|Hypercholesterolemia, familial, 1 [RCV000237890] |
Chr19:11105567 [GRCh38]
Chr19:11216243 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020964]|Familial hypercholesterolemia [RCV001044362]|Hypercholesterolemia, familial, 1 [RCV000237891] |
Chr19:11113392 [GRCh38]
Chr19:11224068 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.532G>A (p.Asp178Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237892] |
Chr19:11105438 [GRCh38]
Chr19:11216114 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.695-105G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237893] |
Chr19:11106460 [GRCh38]
Chr19:11217136 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2207dup (p.Arg737fs) |
duplication |
Cardiovascular phenotype [RCV003298318]|Homozygous familial hypercholesterolemia [RCV004017566]|Hypercholesterolemia, familial, 1 [RCV000237894] |
Chr19:11123239..11123240 [GRCh38]
Chr19:11233916 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436075]|Familial hypercholesterolemia [RCV000791447]|Hypercholesterolemia, familial, 1 [RCV000237895]|not provided [RCV002243924] |
Chr19:11111571 [GRCh38]
Chr19:11222247 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NR_163945.1(LDLR-AS1):n.297_304delinsCA |
indel |
Hypercholesterolemia, familial, 1 [RCV000237896] |
Chr19:11089356..11089363 [GRCh38]
Chr19:11200032..11200039 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804977]|Hypercholesterolemia, familial, 1 [RCV000237897] |
Chr19:11120194 [GRCh38]
Chr19:11230870 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2389+41C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237898] |
Chr19:11128126 [GRCh38]
Chr19:11238802 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775059]|Hypercholesterolemia, familial, 1 [RCV000237899] |
Chr19:11113291 [GRCh38]
Chr19:11223967 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2036dup (p.Tyr679Ter) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237900] |
Chr19:11120417..11120418 [GRCh38]
Chr19:11231094 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1516G>A (p.Val506Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392746]|Familial hypercholesterolemia [RCV000775071]|Hypercholesterolemia, familial, 1 [RCV000237901]|not provided [RCV001812661] |
Chr19:11113692 [GRCh38]
Chr19:11224368 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372664]|Familial hypercholesterolemia [RCV001063423]|Hypercholesterolemia, familial, 1 [RCV000237902]|not provided [RCV000489496] |
Chr19:11113398 [GRCh38]
Chr19:11224074 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581617]|Hypercholesterolemia, familial, 1 [RCV000237903] |
Chr19:11113321 [GRCh38]
Chr19:11223997 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2311+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003298319]|Familial hypercholesterolemia [RCV002518497]|Hypercholesterolemia, familial, 1 [RCV000237904] |
Chr19:11123345 [GRCh38]
Chr19:11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.-13A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186035]|Hypercholesterolemia, familial, 1 [RCV000237905]|LDLR-related condition [RCV003947809] |
Chr19:11089536 [GRCh38]
Chr19:11200212 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418071]|Familial hypercholesterolemia [RCV000589820]|Homozygous familial hypercholesterolemia [RCV000826172]|Hypercholesterolemia, familial, 1 [RCV000237906]|not provided [RCV001284644] |
Chr19:11120478 [GRCh38]
Chr19:11231154 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1904C>T (p.Thr635Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237907] |
Chr19:11120150 [GRCh38]
Chr19:11230826 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1061-1G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002411082]|Familial hypercholesterolemia [RCV000791381]|Hypercholesterolemia, familial, 1 [RCV000237908]|not provided [RCV000786158] |
Chr19:11111513 [GRCh38]
Chr19:11222189 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.313+2T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237909] |
Chr19:11102788 [GRCh38]
Chr19:11213464 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.571C>T (p.Gln191Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237910] |
Chr19:11105477 [GRCh38]
Chr19:11216153 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.148del (p.Ala50fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237911] |
Chr19:11100303 [GRCh38]
Chr19:11210979 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1031del (p.Phe344fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237912] |
Chr19:11110741 [GRCh38]
Chr19:11221417 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020956]|Familial hypercholesterolemia [RCV001176042]|Hypercholesterolemia, familial, 1 [RCV000237913]|not provided [RCV001699171] |
Chr19:11110660 [GRCh38]
Chr19:11221336 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.445G>T (p.Gly149Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237914] |
Chr19:11105351 [GRCh38]
Chr19:11216027 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237915] |
Chr19:11128013..11128014 [GRCh38]
Chr19:11238689..11238690 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.667_693del (p.Lys223_Cys231del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237916] |
Chr19:11105568..11105594 [GRCh38]
Chr19:11216249..11216275 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1651del (p.Asp551fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237917] |
Chr19:11116157 [GRCh38]
Chr19:11226833 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1987+8dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237919] |
Chr19:11120240..11120241 [GRCh38]
Chr19:11230916..11230917 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436076]|Familial hypercholesterolemia [RCV001063149]|Hypercholesterolemia, familial, 1 [RCV000237921]|LDLR-related condition [RCV003391007] |
Chr19:11111577 [GRCh38]
Chr19:11222253 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450744]|Familial hypercholesterolemia [RCV001857823]|Hypercholesterolemia, familial, 1 [RCV000237922] |
Chr19:11105267 [GRCh38]
Chr19:11215943 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1872del (p.Asn625fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237923] |
Chr19:11120118 [GRCh38]
Chr19:11230794 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237924] |
Chr19:11107480 [GRCh38]
Chr19:11218156 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2068del (p.His690fs) |
deletion |
Cardiovascular phenotype [RCV002418068]|Hypercholesterolemia, familial, 1 [RCV000237925] |
Chr19:11120446 [GRCh38]
Chr19:11231122 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2000G>T (p.Cys667Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237926] |
Chr19:11120382 [GRCh38]
Chr19:11231058 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.41dup (p.Leu14fs) |
duplication |
Cardiovascular phenotype [RCV002327169]|Hypercholesterolemia, familial, 1 [RCV000237928] |
Chr19:11089587..11089588 [GRCh38]
Chr19:11200265 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165665]|Hypercholesterolemia, familial, 1 [RCV000237929] |
Chr19:11105439 [GRCh38]
Chr19:11216115 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.240C>A (p.Asn80Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237930] |
Chr19:11102713 [GRCh38]
Chr19:11213389 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804976]|Hypercholesterolemia, familial, 1 [RCV000237931]|not provided [RCV001731460] |
Chr19:11113426 [GRCh38]
Chr19:11224102 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1832dup (p.Leu611fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237932] |
Chr19:11116983..11116984 [GRCh38]
Chr19:11227661 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237933] |
Chr19:11107484 [GRCh38]
Chr19:11218160 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1205dup (p.Phe403fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237934] |
Chr19:11113294..11113295 [GRCh38]
Chr19:11223972 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.808T>A (p.Cys270Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237935] |
Chr19:11106678 [GRCh38]
Chr19:11217354 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1632del (p.Gly546fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237936] |
Chr19:11116137 [GRCh38]
Chr19:11226813 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001036722]|Hypercholesterolemia, familial, 1 [RCV000237937] |
Chr19:11100258 [GRCh38]
Chr19:11210934 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.376T>C (p.Phe126Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237938] |
Chr19:11105282 [GRCh38]
Chr19:11215958 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2416del (p.Val806fs) |
deletion |
Familial hypercholesterolemia [RCV001854911]|Hypercholesterolemia, familial, 1 [RCV000237939] |
Chr19:11129535 [GRCh38]
Chr19:11240211 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.694+8_694+18dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237940] |
Chr19:11105604..11105605 [GRCh38]
Chr19:11216280..11216281 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237941] |
Chr19:11113593 [GRCh38]
Chr19:11224269 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.473C>G (p.Ser158Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237942] |
Chr19:11105379 [GRCh38]
Chr19:11216055 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237943] |
Chr19:11123330 [GRCh38]
Chr19:11234006 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.661_673dup (p.Lys225fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237944] |
Chr19:11105566..11105567 [GRCh38]
Chr19:11216243..11216255 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237945] |
Chr19:11111607 [GRCh38]
Chr19:11222283 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237946]|not provided [RCV001090455] |
Chr19:11120482 [GRCh38]
Chr19:11231158 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| c.(1060+1_1061-1)_(1586+1_1587-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237947] |
Chr19:11222189..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1522delinsCTGAAT (p.Arg508fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237948] |
Chr19:11113698 [GRCh38]
Chr19:11224374 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1A>G (p.Met1Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418050]|Familial hypercholesterolemia [RCV003581592]|Hypercholesterolemia, familial, 1 [RCV000237949] |
Chr19:11089549 [GRCh38]
Chr19:11200225 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2060del (p.Ile687fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237950] |
Chr19:11120442 [GRCh38]
Chr19:11231118 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.694+1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV003165666]|Hypercholesterolemia, familial, 1 [RCV000237951] |
Chr19:11105601 [GRCh38]
Chr19:11216277 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2140+9C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237952] |
Chr19:11120531 [GRCh38]
Chr19:11231207 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.769C>T (p.Arg257Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401930]|Familial hypercholesterolemia [RCV000775048]|Hypercholesterolemia, familial, 1 [RCV000237953]|not provided [RCV000845535]|not specified [RCV001800605] |
Chr19:11106639 [GRCh38]
Chr19:11217315 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.382_385del (p.Cys128fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237954] |
Chr19:11105288..11105291 [GRCh38]
Chr19:11215964..11215967 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-140C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237955] |
Chr19:11089409 [GRCh38]
Chr19:11200085 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) |
indel |
Cardiovascular phenotype [RCV004020948]|Familial hypercholesterolemia [RCV001207725]|Hypercholesterolemia, familial, 1 [RCV000237956]|not provided [RCV003441821] |
Chr19:11105230..11105231 [GRCh38]
Chr19:11215906..11215907 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1445A>G (p.Asp482Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581626]|Hypercholesterolemia, familial, 1 [RCV000237957] |
Chr19:11113621 [GRCh38]
Chr19:11224297 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.245G>A (p.Cys82Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429165]|Hypercholesterolemia, familial, 1 [RCV000237958] |
Chr19:11102718 [GRCh38]
Chr19:11213394 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1257C>A (p.Tyr419Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237959] |
Chr19:11113348 [GRCh38]
Chr19:11224024 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2482T>C (p.Tyr828His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237960] |
Chr19:11129605 [GRCh38]
Chr19:11240281 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1867_1868del (p.Ile623fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000237961]|not provided [RCV001699087] |
Chr19:11120111..11120112 [GRCh38]
Chr19:11230787..11230788 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237962]|not provided [RCV000254781] |
Chr19:11116884 [GRCh38]
Chr19:11227560 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1802dup (p.Asp601fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237963] |
Chr19:11116954..11116955 [GRCh38]
Chr19:11227631 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.875dup (p.Asp293fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237964] |
Chr19:11107448..11107449 [GRCh38]
Chr19:11218125 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1705+1_1706-1)_(*2514_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237965] |
Chr19:11227534..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1655del (p.Ile552fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237966] |
Chr19:11116162 [GRCh38]
Chr19:11226838 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1173del (p.Cys392fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237967] |
Chr19:11111625 [GRCh38]
Chr19:11222301 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.941-14dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237968] |
Chr19:11110634..11110635 [GRCh38]
Chr19:11221310..11221311 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429167]|Hypercholesterolemia, familial, 1 [RCV000237969] |
Chr19:11102740 [GRCh38]
Chr19:11213416 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.313+5G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775034]|Hypercholesterolemia, familial, 1 [RCV000237970] |
Chr19:11102791 [GRCh38]
Chr19:11213467 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380529]|Familial hypercholesterolemia [RCV000771574]|Hypercholesterolemia, familial, 1 [RCV000237971]|not provided [RCV000786347] |
Chr19:11111514 [GRCh38]
Chr19:11222190 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.190+34T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237972] |
Chr19:11100379 [GRCh38]
Chr19:11211055 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237973] |
Chr19:11100310 [GRCh38]
Chr19:11210986 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237974] |
Chr19:11110738 [GRCh38]
Chr19:11221414 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| c.(67+1_68-1)_(1586+1_1587-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237975] |
Chr19:11210898..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.946_994del (p.Asn316fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237976] |
Chr19:11110653..11110701 [GRCh38]
Chr19:11221333..11221381 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.881_882del (p.Lys294fs) |
deletion |
Cardiovascular phenotype [RCV002374398]|Familial hypercholesterolemia [RCV001202718]|Homozygous familial hypercholesterolemia [RCV000826196]|Hypercholesterolemia, familial, 1 [RCV000237977] |
Chr19:11107454..11107455 [GRCh38]
Chr19:11218131..11218132 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1801G>C (p.Asp601His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411091]|Familial hypercholesterolemia [RCV002518489]|Hypercholesterolemia, familial, 1 [RCV000237978] |
Chr19:11116954 [GRCh38]
Chr19:11227630 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.800A>C (p.Glu267Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237979] |
Chr19:11106670 [GRCh38]
Chr19:11217346 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237980] |
Chr19:11128029..11128030 [GRCh38]
Chr19:11238705..11238706 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2417_2418insGG (p.Phe807fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000237981] |
Chr19:11129540..11129541 [GRCh38]
Chr19:11240216..11240217 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1361C>A (p.Thr454Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237982] |
Chr19:11113537 [GRCh38]
Chr19:11224213 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.314-446_1187-386dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237983] |
Chr19:11104770..11104771 [GRCh38]
Chr19:11221454 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237984] |
Chr19:11105561..11105566 [GRCh38]
Chr19:11216238..11216243 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.265T>C (p.Cys89Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237985] |
Chr19:11102738 [GRCh38]
Chr19:11213414 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.478T>G (p.Cys160Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338780]|Hypercholesterolemia, familial, 1 [RCV000237986] |
Chr19:11105384 [GRCh38]
Chr19:11216060 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237988] |
Chr19:11116125 [GRCh38]
Chr19:11226801 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.561_562del (p.Tyr188fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237989] |
Chr19:11105466..11105467 [GRCh38]
Chr19:11216143..11216144 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.641G>C (p.Trp214Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237990] |
Chr19:11105547 [GRCh38]
Chr19:11216223 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1986_1987delinsC (p.Arg662fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000237991] |
Chr19:11120232..11120233 [GRCh38]
Chr19:11230908..11230909 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-139C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518472]|Hypercholesterolemia, familial, 1 [RCV000237992] |
Chr19:11089410 [GRCh38]
Chr19:11200086 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2063del (p.Asn688fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237993] |
Chr19:11120444 [GRCh38]
Chr19:11231120 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1233del (p.Lys411_Met412insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237994] |
Chr19:11113324 [GRCh38]
Chr19:11224000 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.681_683del (p.Asp227del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237995] |
Chr19:11105585..11105587 [GRCh38]
Chr19:11216263..11216265 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2140+2T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237996] |
Chr19:11120524 [GRCh38]
Chr19:11231200 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.56C>T (p.Ala19Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182217]|Hypercholesterolemia, familial, 1 [RCV000237997]|not provided [RCV003328574] |
Chr19:11089604 [GRCh38]
Chr19:11200280 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.409G>T (p.Gly137Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237998] |
Chr19:11105315 [GRCh38]
Chr19:11215991 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854902]|Hypercholesterolemia, familial, 1 [RCV000237999] |
Chr19:11113431 [GRCh38]
Chr19:11224107 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1454A>G (p.His485Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238000] |
Chr19:11113630 [GRCh38]
Chr19:11224306 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1571T>G (p.Val524Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238001] |
Chr19:11113747 [GRCh38]
Chr19:11224423 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(1705+1_1706-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238002] |
Chr19:11227534..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446476]|Familial hypercholesterolemia [RCV000775056]|Hypercholesterolemia, familial, 1 [RCV000238003]|not provided [RCV000786349] |
Chr19:11111543 [GRCh38]
Chr19:11222219 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.869_871dup (p.Ile290dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238004] |
Chr19:11107440..11107441 [GRCh38]
Chr19:11218119..11218121 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1471dup (p.Thr491fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238005] |
Chr19:11113646..11113647 [GRCh38]
Chr19:11224323 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.934G>T (p.Glu312Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238006] |
Chr19:11107508 [GRCh38]
Chr19:11218184 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238007] |
Chr19:11110765 [GRCh38]
Chr19:11221441 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-149C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581589]|Hypercholesterolemia, familial, 1 [RCV000238008] |
Chr19:11089400 [GRCh38]
Chr19:11200076 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1952A>T (p.Asp651Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238009] |
Chr19:11120198 [GRCh38]
Chr19:11230874 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.415G>C (p.Asp139His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238010] |
Chr19:11105321 [GRCh38]
Chr19:11215997 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2389+5G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518500]|Hypercholesterolemia, familial, 1 [RCV000238011] |
Chr19:11128090 [GRCh38]
Chr19:11238766 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.4(LDLR):c.680_682delACGins14 (p.?) |
indel |
Hypercholesterolemia, familial, 1 [RCV000238012] |
Chr19:11105586..11105588 [GRCh38]
Chr19:11216262..11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.95T>G (p.Phe32Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238013] |
Chr19:11100250 [GRCh38]
Chr19:11210926 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.764G>A (p.Cys255Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238014] |
Chr19:11106634 [GRCh38]
Chr19:11217310 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(1845+1_1846-1)_(2311+1_2312-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238016] |
Chr19:11230767..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(190+1_191-1)_(2140+1_2141-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238017] |
Chr19:11213339..11231199 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1617C>T (p.Pro539=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392747]|Familial hypercholesterolemia [RCV001518851]|Hypercholesterolemia, familial, 1 [RCV000238018]|Smith-Lemli-Opitz syndrome [RCV001275280]|not provided [RCV000589450]|not specified [RCV000243017] |
Chr19:11116124 [GRCh38]
Chr19:11226800 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229693]|Hypercholesterolemia, familial, 1 [RCV000238019]|not provided [RCV000588515] |
Chr19:11120423 [GRCh38]
Chr19:11231099 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1977C>A (p.Thr659=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418058]|Familial hypercholesterolemia [RCV000776112]|Hypercholesterolemia, familial, 1 [RCV000238020]|LDLR-related condition [RCV003977703]|not provided [RCV001722277]|not specified [RCV003323476] |
Chr19:11120223 [GRCh38]
Chr19:11230899 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.763T>A (p.Cys255Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238021] |
Chr19:11106633 [GRCh38]
Chr19:11217309 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.632_634del (p.His211_Ser212delinsPro) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238022] |
Chr19:11105538..11105540 [GRCh38]
Chr19:11216214..11216216 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.1187-169_2312-790del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238023] |
Chr19:11113109..11127218 [GRCh38]
Chr19:11223785..11237894 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.670dup (p.Asp224fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238024] |
Chr19:11105574..11105575 [GRCh38]
Chr19:11216252 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.327dup (p.Ser110fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238025] |
Chr19:11105232..11105233 [GRCh38]
Chr19:11215909 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1846-1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002411098]|Familial hypercholesterolemia [RCV000791432]|Homozygous familial hypercholesterolemia [RCV004017563]|Hypercholesterolemia, familial, 1 [RCV000238026]|not provided [RCV002243925] |
Chr19:11120091 [GRCh38]
Chr19:11230767 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) |
indel |
Hypercholesterolemia, familial, 1 [RCV000238027] |
Chr19:11116205..11116211 [GRCh38]
Chr19:11226881..11226887 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.513dup (p.Asp172fs) |
duplication |
Cardiovascular phenotype [RCV002338783]|Familial hypercholesterolemia [RCV003581600]|Hypercholesterolemia, familial, 1 [RCV000238028] |
Chr19:11105415..11105416 [GRCh38]
Chr19:11216095 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2191del (p.Val731fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238029] |
Chr19:11123223 [GRCh38]
Chr19:11233899 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(67+1_68-1)_(2140+1_2141-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238030] |
Chr19:11210898..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.940+845_1186+531del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238031] |
Chr19:11108339..11112150 [GRCh38]
Chr19:11219035..11222846 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.191-512_940+631del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238032] |
Chr19:11102145..11108138 [GRCh38]
Chr19:11212821..11218814 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1586+1_1587-1)_(2389+1_2390-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238034] |
Chr19:11226769..11238762 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1474G>C (p.Asp492His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392743]|Familial hypercholesterolemia [RCV000587515]|Hypercholesterolemia, familial, 1 [RCV000238035]|not provided [RCV001284639] |
Chr19:11113650 [GRCh38]
Chr19:11224326 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581598]|Hypercholesterolemia, familial, 1 [RCV000238036] |
Chr19:11105348 [GRCh38]
Chr19:11216024 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000812951]|Hypercholesterolemia, familial, 1 [RCV000238037] |
Chr19:11120110 [GRCh38]
Chr19:11230786 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2356A>T (p.Ser786Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581645]|Hypercholesterolemia, familial, 1 [RCV000238038] |
Chr19:11128052 [GRCh38]
Chr19:11238728 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.737G>A (p.Gly246Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238039] |
Chr19:11106607 [GRCh38]
Chr19:11217283 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446477]|Familial hypercholesterolemia [RCV001384956]|Hypercholesterolemia, familial, 1 [RCV000238040] |
Chr19:11113359 [GRCh38]
Chr19:11224035 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) |
duplication |
Cardiovascular phenotype [RCV002365241]|Familial hypercholesterolemia [RCV000586459]|Hypercholesterolemia, familial, 1 [RCV000238041]|not provided [RCV003327389] |
Chr19:11105565..11105566 [GRCh38]
Chr19:11216245..11216265 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.889A>C (p.Asn297His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238042]|not provided [RCV003126648] |
Chr19:11107463 [GRCh38]
Chr19:11218139 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.691T>C (p.Cys231Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365243]|Familial hypercholesterolemia [RCV001246502]|Hypercholesterolemia, familial, 1 [RCV000238043] |
Chr19:11105597 [GRCh38]
Chr19:11216273 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857822]|Hypercholesterolemia, familial, 1 [RCV000238044] |
Chr19:11102753 [GRCh38]
Chr19:11213429 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1988-42G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238045] |
Chr19:11120328 [GRCh38]
Chr19:11231004 [GRCh37]
Chr19:19p13.2 |
likely benign |
| FH Vancouver 6 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238046] |
Chr19:11215895..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1245_1249dup (p.Ser417fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238047] |
Chr19:11113332..11113333 [GRCh38]
Chr19:11224012..11224016 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1069_1086dup (p.Glu357_Asp362dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238048] |
Chr19:11111521..11111522 [GRCh38]
Chr19:11222198..11222215 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.495G>A (p.Trp165Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238049]|not provided [RCV001800604] |
Chr19:11105401 [GRCh38]
Chr19:11216077 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1358+1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238050] |
Chr19:11113450 [GRCh38]
Chr19:11224126 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.-135C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002379056]|Familial hypercholesterolemia [RCV001034639]|Hypercholesterolemia, familial, 1 [RCV000238051] |
Chr19:11089414 [GRCh38]
Chr19:11200090 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2080T>G (p.Phe694Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238052] |
Chr19:11120462 [GRCh38]
Chr19:11231138 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1725C>T (p.Leu575=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401944]|Familial hypercholesterolemia [RCV001275780]|Hypercholesterolemia, familial, 1 [RCV000238053]|not specified [RCV000247994] |
Chr19:11116878 [GRCh38]
Chr19:11227554 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1096C>T (p.Gln366Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020960]|Hypercholesterolemia, familial, 1 [RCV000238054] |
Chr19:11111549 [GRCh38]
Chr19:11222225 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1186+1_1187-1)_(1586+1_1587-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238055] |
Chr19:11223953..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519841]|Hypercholesterolemia, familial, 1 [RCV000238056] |
Chr19:11105420 [GRCh38]
Chr19:11216096 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1460_1462del (p.Asn487del) |
deletion |
Familial hypercholesterolemia [RCV002229691]|Hypercholesterolemia, familial, 1 [RCV000238057] |
Chr19:11113634..11113636 [GRCh38]
Chr19:11224312..11224314 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2385del (p.Ile796fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238058] |
Chr19:11128078 [GRCh38]
Chr19:11238754 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178793]|Hypercholesterolemia, familial, 1 [RCV000238059] |
Chr19:11129669 [GRCh38]
Chr19:11240345 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.581_582insA (p.Ser194fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238060] |
Chr19:11105487..11105488 [GRCh38]
Chr19:11216163..11216164 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.191-2delinsCT |
indel |
Hypercholesterolemia, familial, 1 [RCV000238061] |
Chr19:11102662 [GRCh38]
Chr19:11213338 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.68-2A>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002365236]|Hypercholesterolemia, familial, 1 [RCV000238062]|not provided [RCV002509335] |
Chr19:11100221 [GRCh38]
Chr19:11210897 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.793A>T (p.Ser265Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238064]|not provided [RCV001256973] |
Chr19:11106663 [GRCh38]
Chr19:11217339 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1786A>T (p.Lys596Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238065] |
Chr19:11116939 [GRCh38]
Chr19:11227615 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2155G>C (p.Val719Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238066] |
Chr19:11123188 [GRCh38]
Chr19:11233864 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002401937]|Familial hypercholesterolemia [RCV001290569]|Hypercholesterolemia, familial, 1 [RCV000238067] |
Chr19:11113763 [GRCh38]
Chr19:11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(940+1_941-1)_(1586+1_1587-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238068] |
Chr19:11221327..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2509del (p.His837fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238069] |
Chr19:11129631 [GRCh38]
Chr19:11240307 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238070] |
Chr19:11089552 [GRCh38]
Chr19:11200228 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.648_649del (p.Cys216_Asp217delinsTer) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000238071] |
Chr19:11105552..11105553 [GRCh38]
Chr19:11216228..11216229 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT |
indel |
Cardiovascular phenotype [RCV002379066]|Familial hypercholesterolemia [RCV001525939]|Hypercholesterolemia, familial, 1 [RCV000238072] |
Chr19:11113504..11113512 [GRCh38]
Chr19:11224180..11224188 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.419A>G (p.Glu140Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238073] |
Chr19:11105325 [GRCh38]
Chr19:11216001 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1067A>C (p.Asp356Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238074] |
Chr19:11111520 [GRCh38]
Chr19:11222196 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1182del (p.Val395fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238075] |
Chr19:11111635 [GRCh38]
Chr19:11222311 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.397dup (p.Asp133fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238076] |
Chr19:11105300..11105301 [GRCh38]
Chr19:11215979 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1987+1_1988-1)_(2311+1_2312-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238077] |
Chr19:11231045..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.961_962del (p.Asn321fs) |
deletion |
Familial hypercholesterolemia [RCV001854897]|Hypercholesterolemia, familial, 1 [RCV000238078] |
Chr19:11110672..11110673 [GRCh38]
Chr19:11221348..11221349 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.68-1G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002365237]|Familial hypercholesterolemia [RCV002519837]|Hypercholesterolemia, familial, 1 [RCV000238079]|not provided [RCV000521979] |
Chr19:11100222 [GRCh38]
Chr19:11210898 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238080] |
Chr19:11120514 [GRCh38]
Chr19:11231190 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001328351]|Hypercholesterolemia, familial, 1 [RCV000238081] |
Chr19:11106679 [GRCh38]
Chr19:11217355 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411092]|Familial hypercholesterolemia [RCV000775078]|Hypercholesterolemia, familial, 1 [RCV000238082]|not provided [RCV003233513]|not specified [RCV003993908] |
Chr19:11116969 [GRCh38]
Chr19:11227645 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.914G>C (p.Trp305Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238083] |
Chr19:11107488 [GRCh38]
Chr19:11218164 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1633G>T (p.Gly545Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238084] |
Chr19:11116140 [GRCh38]
Chr19:11226816 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(?_-187)_(2140+1_2141-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238085] |
Chr19:11200038..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1813C>T (p.Leu605=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238086] |
Chr19:11116966 [GRCh38]
Chr19:11227642 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238087] |
Chr19:11120102 [GRCh38]
Chr19:11230778 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1705+2_1705+3insC |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238088] |
Chr19:11116214..11116215 [GRCh38]
Chr19:11226890..11226891 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000791391]|Hypercholesterolemia, familial, 1 [RCV000238089] |
Chr19:11113639 [GRCh38]
Chr19:11224315 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1376C>G (p.Ala459Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238090] |
Chr19:11113552 [GRCh38]
Chr19:11224228 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1045del (p.Gln349fs) |
deletion |
Familial hypercholesterolemia [RCV003581614]|Hypercholesterolemia, familial, 1 [RCV000238091] |
Chr19:11110754 [GRCh38]
Chr19:11221430 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(1186+1_1187-1)_(2140+1_2141-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238092] |
Chr19:11223953..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.114dup (p.Cys39fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238093] |
Chr19:11100266..11100267 [GRCh38]
Chr19:11210945 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.516C>G (p.Asp172Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338786]|Hypercholesterolemia, familial, 1 [RCV000238094] |
Chr19:11105422 [GRCh38]
Chr19:11216098 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2046_2049del (p.Ala684fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238095] |
Chr19:11120425..11120428 [GRCh38]
Chr19:11231104..11231107 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.855C>A (p.His285Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238097] |
Chr19:11107429 [GRCh38]
Chr19:11218105 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+2T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238098] |
Chr19:11113764 [GRCh38]
Chr19:11224440 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347940]|Hypercholesterolemia, familial, 1 [RCV000238099] |
Chr19:11113298 [GRCh38]
Chr19:11223974 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2390-1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001212452]|Hypercholesterolemia, familial, 1 [RCV000238100] |
Chr19:11129512 [GRCh38]
Chr19:11240188 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(190+1_191-1)_(940+1_941-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238101] |
Chr19:11213339..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del) |
deletion |
Familial hypercholesterolemia [RCV003581629]|Hypercholesterolemia, familial, 1 [RCV000238102] |
Chr19:11116102..11116110 [GRCh38]
Chr19:11226783..11226791 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2232A>G (p.Arg744=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418074]|Familial hypercholesterolemia [RCV001275783]|Hypercholesterolemia, familial, 1 [RCV000238103]|not provided [RCV001812664]|not specified [RCV000252146] |
Chr19:11123265 [GRCh38]
Chr19:11233941 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.81C>T (p.Cys27=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429162]|Familial hypercholesterolemia [RCV001520672]|Hypercholesterolemia, familial, 1 [RCV000238104]|Smith-Lemli-Opitz syndrome [RCV001273279]|not specified [RCV000248705] |
Chr19:11100236 [GRCh38]
Chr19:11210912 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356333]|Hypercholesterolemia, familial, 1 [RCV000238105] |
Chr19:11105552 [GRCh38]
Chr19:11216228 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020963]|Familial hypercholesterolemia [RCV001526181]|Hypercholesterolemia, familial, 1 [RCV000238106] |
Chr19:11113375 [GRCh38]
Chr19:11224051 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000238107] |
Chr19:11111552..11111557 [GRCh38]
Chr19:11222228..11222233 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NR_163945.1(LDLR-AS1):n.248G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854880]|Hypercholesterolemia, familial, 1 [RCV000238108] |
Chr19:11089412 [GRCh38]
Chr19:11200088 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) |
deletion |
Cardiovascular phenotype [RCV002411090]|Familial hypercholesterolemia [RCV001228331]|Hypercholesterolemia, familial, 1 [RCV000238109]|not provided [RCV003456386] |
Chr19:11116936..11116942 [GRCh38]
Chr19:11227613..11227619 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365238]|Familial hypercholesterolemia [RCV000775045]|Homozygous familial hypercholesterolemia [RCV004017545]|Hypercholesterolemia, familial, 1 [RCV000238110]|LDLR-related condition [RCV003409368]|not provided [RCV001729479] |
Chr19:11105528 [GRCh38]
Chr19:11216204 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1489A>C (p.Thr497Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238111] |
Chr19:11113665 [GRCh38]
Chr19:11224341 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1876del (p.Glu626fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238112] |
Chr19:11120122 [GRCh38]
Chr19:11230798 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.682delinsTGCA (p.Glu228delinsCysLys) |
indel |
Hypercholesterolemia, familial, 1 [RCV000238113] |
Chr19:11105588 [GRCh38]
Chr19:11216264 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.362G>C (p.Cys121Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238114] |
Chr19:11105268 [GRCh38]
Chr19:11215944 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2390-2A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002450749]|Familial hypercholesterolemia [RCV001828123]|Hypercholesterolemia, familial, 1 [RCV000238115] |
Chr19:11129511 [GRCh38]
Chr19:11240187 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518498]|Hypercholesterolemia, familial, 1 [RCV000238116]|not provided [RCV000657896] |
Chr19:11128086 [GRCh38]
Chr19:11238762 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519847]|Hypercholesterolemia, familial, 1 [RCV000238117] |
Chr19:11113376 [GRCh38]
Chr19:11224052 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374404]|Familial hypercholesterolemia [RCV002229814]|Hypercholesterolemia, familial, 1 [RCV000238118]|not provided [RCV001843948] |
Chr19:11110724 [GRCh38]
Chr19:11221400 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374399]|Familial hypercholesterolemia [RCV001249084]|Hypercholesterolemia, familial, 1 [RCV000238119] |
Chr19:11107461 [GRCh38]
Chr19:11218137 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804978]|Hypercholesterolemia, familial, 1 [RCV000238120] |
Chr19:11123204 [GRCh38]
Chr19:11233880 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238121] |
Chr19:11105580..11105581 [GRCh38]
Chr19:11216257..11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(190+1_191-1)_(694+1_695-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238122] |
Chr19:11213339..11216277 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.772G>T (p.Glu258Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003226265]|Hypercholesterolemia, familial, 1 [RCV000238123] |
Chr19:11106642 [GRCh38]
Chr19:11217318 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.283T>G (p.Cys95Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229686]|Hypercholesterolemia, familial, 1 [RCV000238124] |
Chr19:11102756 [GRCh38]
Chr19:11213432 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238125] |
Chr19:11120435 [GRCh38]
Chr19:11231111 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1042_1043insA (p.Ala348fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238126] |
Chr19:11110753..11110754 [GRCh38]
Chr19:11221429..11221430 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450743]|Familial hypercholesterolemia [RCV001293736]|Hypercholesterolemia, familial, 1 [RCV000238127]|not provided [RCV003233512] |
Chr19:11105249 [GRCh38]
Chr19:11215925 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1964del (p.Phe655fs) |
deletion |
Familial hypercholesterolemia [RCV001056676]|Hypercholesterolemia, familial, 1 [RCV000238128] |
Chr19:11120209 [GRCh38]
Chr19:11230885 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.424_430del (p.Ser142fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238129] |
Chr19:11105327..11105333 [GRCh38]
Chr19:11216006..11216012 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(940+1_941-1)_(1060+1_1061-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238130] |
Chr19:11221327..11221448 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238131] |
Chr19:11105575..11105576 [GRCh38]
Chr19:11216255..11216263 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.643C>A (p.Arg215Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238132] |
Chr19:11105549 [GRCh38]
Chr19:11216225 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.850T>C (p.Cys284Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238133] |
Chr19:11107424 [GRCh38]
Chr19:11218100 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.518del (p.Cys173fs) |
deletion |
Cardiovascular phenotype [RCV002338787]|Hypercholesterolemia, familial, 1 [RCV000238134] |
Chr19:11105424 [GRCh38]
Chr19:11216100 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.67+2T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238135] |
Chr19:11089617 [GRCh38]
Chr19:11200293 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418062]|Familial hypercholesterolemia [RCV000810496]|Hypercholesterolemia, familial, 1 [RCV000238136] |
Chr19:11120405 [GRCh38]
Chr19:11231081 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238137] |
Chr19:11110719 [GRCh38]
Chr19:11221395 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000238138] |
Chr19:11129515..11129517 [GRCh38]
Chr19:11240191..11240193 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1423_1424delinsA (p.Ala475fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000238139] |
Chr19:11113599..11113600 [GRCh38]
Chr19:11224275..11224276 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238140] |
Chr19:11113301 [GRCh38]
Chr19:11223977 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238141] |
Chr19:11116104 [GRCh38]
Chr19:11226780 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857826]|Hypercholesterolemia, familial, 1 [RCV000238142] |
Chr19:11113409 [GRCh38]
Chr19:11224085 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| c.(?_-187)_(1060+1_1061-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238143] |
Chr19:11200038..11221448 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1379_1402delinsCAGCTTGACCCGC (p.His460_Val468delinsProAlaTer) |
indel |
Hypercholesterolemia, familial, 1 [RCV000238144] |
Chr19:11113555..11113578 [GRCh38]
Chr19:11224231..11224254 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238145] |
Chr19:11120513 [GRCh38]
Chr19:11231189 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.225T>G (p.Cys75Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238146] |
Chr19:11102698 [GRCh38]
Chr19:11213374 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854912]|Hypercholesterolemia, familial, 1 [RCV000238147]|not provided [RCV000483979] |
Chr19:11129553 [GRCh38]
Chr19:11240229 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.535G>A (p.Glu179Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238148]|not provided [RCV003477848] |
Chr19:11105441 [GRCh38]
Chr19:11216117 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.118del (p.Ile40fs) |
deletion |
Homozygous familial hypercholesterolemia [RCV004017534]|Hypercholesterolemia, familial, 1 [RCV000238149] |
Chr19:11100273 [GRCh38]
Chr19:11210949 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2311+2T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238150] |
Chr19:11123346 [GRCh38]
Chr19:11234022 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000238151] |
Chr19:11113669..11113670 [GRCh38]
Chr19:11224345..11224346 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.750T>C (p.His250=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190235]|Hypercholesterolemia, familial, 1 [RCV000238152] |
Chr19:11106620 [GRCh38]
Chr19:11217296 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.817+2T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238153] |
Chr19:11106689 [GRCh38]
Chr19:11217365 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.214del (p.Asp72fs) |
deletion |
Cardiovascular phenotype [RCV002429163]|Familial hypercholesterolemia [RCV001854885]|Homozygous familial hypercholesterolemia [RCV004017537]|Hypercholesterolemia, familial, 1 [RCV000238154]|not provided [RCV000599126] |
Chr19:11102684 [GRCh38]
Chr19:11213360 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.969del (p.Gly324fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238155] |
Chr19:11110680 [GRCh38]
Chr19:11221356 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191368]|Homozygous familial hypercholesterolemia [RCV004017555]|Hypercholesterolemia, familial, 1 [RCV000238156] |
Chr19:11113414 [GRCh38]
Chr19:11224090 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.619_639del (p.Gly207_Ser213del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238157] |
Chr19:11105525..11105545 [GRCh38]
Chr19:11216201..11216221 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.285C>A (p.Cys95Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238158] |
Chr19:11102758 [GRCh38]
Chr19:11213434 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.743G>T (p.Cys248Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238159] |
Chr19:11106613 [GRCh38]
Chr19:11217289 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1959T>C (p.Val653=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418056]|Familial hypercholesterolemia [RCV001275782]|Hypercholesterolemia, familial, 1 [RCV000238160]|not provided [RCV001812662]|not specified [RCV000244560] |
Chr19:11120205 [GRCh38]
Chr19:11230881 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1748A>G (p.His583Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238161] |
Chr19:11116901 [GRCh38]
Chr19:11227577 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1532T>C (p.Leu511Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238162] |
Chr19:11113708 [GRCh38]
Chr19:11224384 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1130G>C (p.Cys377Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321917]|Hypercholesterolemia, familial, 1 [RCV000238163] |
Chr19:11111583 [GRCh38]
Chr19:11222259 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1855_1856insA (p.Phe619fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238164] |
Chr19:11120101..11120102 [GRCh38]
Chr19:11230777..11230778 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298312]|Familial hypercholesterolemia [RCV002518476]|Hypercholesterolemia, familial, 1 [RCV000238165]|not provided [RCV000484918]|not specified [RCV000781509] |
Chr19:11105357 [GRCh38]
Chr19:11216033 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238166] |
Chr19:11111556 [GRCh38]
Chr19:11222232 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238167]|not provided [RCV002223828] |
Chr19:11120182 [GRCh38]
Chr19:11230858 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1060+10G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003298314]|Familial hypercholesterolemia [RCV001242346]|Hypercholesterolemia, familial, 1 [RCV000238168]|not provided [RCV001576239] |
Chr19:11110781 [GRCh38]
Chr19:11221457 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1845+1del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238169] |
Chr19:11116998 [GRCh38]
Chr19:11227674 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1778dup (p.Asn594fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238170] |
Chr19:11116926..11116927 [GRCh38]
Chr19:11227607 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518493]|Hypercholesterolemia, familial, 1 [RCV000238171] |
Chr19:11120408 [GRCh38]
Chr19:11231084 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000816844]|Hypercholesterolemia, familial, 1 [RCV000238172]|not provided [RCV001549448] |
Chr19:11110723 [GRCh38]
Chr19:11221399 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356330]|Familial hypercholesterolemia [RCV001068108]|Hypercholesterolemia, familial, 1 [RCV000238173] |
Chr19:11105496 [GRCh38]
Chr19:11216172 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1187-1G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238174] |
Chr19:11113277 [GRCh38]
Chr19:11223953 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.366dup (p.Ser123fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238175] |
Chr19:11105271..11105272 [GRCh38]
Chr19:11215948 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238176] |
Chr19:11116210 [GRCh38]
Chr19:11226886 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.310T>C (p.Cys104Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854886]|Hypercholesterolemia, familial, 1 [RCV000238177] |
Chr19:11102783 [GRCh38]
Chr19:11213459 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1587-1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002401939]|Familial hypercholesterolemia [RCV001183447]|Hypercholesterolemia, familial, 1 [RCV000238178] |
Chr19:11116093 [GRCh38]
Chr19:11226769 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000819650]|Hypercholesterolemia, familial, 1 [RCV000238179]|not provided [RCV001699253] |
Chr19:11116996 [GRCh38]
Chr19:11227672 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1681C>T (p.Gln561Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581630]|Homozygous familial hypercholesterolemia [RCV004017562]|Hypercholesterolemia, familial, 1 [RCV000238180]|LDLR-related condition [RCV003391008] |
Chr19:11116188 [GRCh38]
Chr19:11226864 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2088C>A (p.Cys696Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238181] |
Chr19:11120470 [GRCh38]
Chr19:11231146 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1178del (p.Lys393fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238182] |
Chr19:11111630 [GRCh38]
Chr19:11222306 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.539G>A (p.Trp180Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581602]|Hypercholesterolemia, familial, 1 [RCV000238183] |
Chr19:11105445 [GRCh38]
Chr19:11216121 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.369_370del (p.Arg124fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000238184] |
Chr19:11105271..11105272 [GRCh38]
Chr19:11215947..11215948 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.172G>A (p.Glu58Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238185] |
Chr19:11100327 [GRCh38]
Chr19:11211003 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238186] |
Chr19:11128070 [GRCh38]
Chr19:11238746 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.814_817del (p.Val271_Asn272insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238187] |
Chr19:11106684..11106687 [GRCh38]
Chr19:11217360..11217363 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1351A>T (p.Ile451Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581621]|Hypercholesterolemia, familial, 1 [RCV000238188] |
Chr19:11113442 [GRCh38]
Chr19:11224118 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.671A>G (p.Asp224Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001208294]|Hypercholesterolemia, familial, 1 [RCV000238189] |
Chr19:11105577 [GRCh38]
Chr19:11216253 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2312-47G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238190] |
Chr19:11127961 [GRCh38]
Chr19:11238637 [GRCh37]
Chr19:19p13.2 |
benign |
| c.(694+1_695-1)_(1586+1_1587-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238191] |
Chr19:11217240..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1243G>C (p.Asp415His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001174782]|Hypercholesterolemia, familial, 1 [RCV000238192] |
Chr19:11113334 [GRCh38]
Chr19:11224010 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.616dup (p.Ser206fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238193] |
Chr19:11105520..11105521 [GRCh38]
Chr19:11216198 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(2140+1_2141-1)_(*2514_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238194] |
Chr19:11233849..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.386A>G (p.Asp129Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238195] |
Chr19:11105292 [GRCh38]
Chr19:11215968 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.67+4761_818-332del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238196] |
Chr19:11094376..11107060 [GRCh38]
Chr19:11205052..11217736 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518487]|Hypercholesterolemia, familial, 1 [RCV000238197] |
Chr19:11113714 [GRCh38]
Chr19:11224390 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2014del (p.Thr671_Leu672insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238198] |
Chr19:11120394 [GRCh38]
Chr19:11231070 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.485C>T (p.Pro162Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518477]|Hypercholesterolemia, familial, 1 [RCV000238199] |
Chr19:11105391 [GRCh38]
Chr19:11216067 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020953]|Familial hypercholesterolemia [RCV003581609]|Hypercholesterolemia, familial, 1 [RCV000238200] |
Chr19:11107469 [GRCh38]
Chr19:11218145 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.9del (p.Trp4fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238201] |
Chr19:11089555 [GRCh38]
Chr19:11200231 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411083]|Familial hypercholesterolemia [RCV001182457]|Hypercholesterolemia, familial, 1 [RCV000238202]|not provided [RCV000522393]|not specified [RCV003387819] |
Chr19:11111519 [GRCh38]
Chr19:11222195 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418072]|Familial hypercholesterolemia [RCV003581643]|Hypercholesterolemia, familial, 1 [RCV000238203]|not provided [RCV004017565] |
Chr19:11120501 [GRCh38]
Chr19:11231177 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| c.(?_-187)_(67+1_68-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238204] |
Chr19:11200038..11200292 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775081]|Hypercholesterolemia, familial, 1 [RCV000238205] |
Chr19:11120174 [GRCh38]
Chr19:11230850 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.389C>G (p.Ser130Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238207] |
Chr19:11105295 [GRCh38]
Chr19:11215971 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1996_2012del (p.Trp666fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238208] |
Chr19:11120376..11120392 [GRCh38]
Chr19:11231054..11231070 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1455C>G (p.His485Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238209] |
Chr19:11113631 [GRCh38]
Chr19:11224307 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.312T>G (p.Cys104Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238210] |
Chr19:11102785 [GRCh38]
Chr19:11213461 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1822C>A (p.Pro608Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238211] |
Chr19:11116975 [GRCh38]
Chr19:11227651 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.916_919dup (p.Asp307fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238212] |
Chr19:11107488..11107489 [GRCh38]
Chr19:11218166..11218169 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1664T>C (p.Leu555Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238213] |
Chr19:11116171 [GRCh38]
Chr19:11226847 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003765484]|Hypercholesterolemia, familial, 1 [RCV000238214]|not provided [RCV003329270] |
Chr19:11100324 [GRCh38]
Chr19:11211000 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298315]|Hypercholesterolemia, familial, 1 [RCV000238215] |
Chr19:11113416 [GRCh38]
Chr19:11224092 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238218] |
Chr19:11107511 [GRCh38]
Chr19:11218187 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| c.(313+1_314-1)_(694+1_695-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238219] |
Chr19:11215895..11216277 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000791392]|Hypercholesterolemia, familial, 1 [RCV000238220] |
Chr19:11113306 [GRCh38]
Chr19:11223982 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1060+24C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001466592]|Hypercholesterolemia, familial, 1 [RCV000238221]|not provided [RCV002225533] |
Chr19:11110795 [GRCh38]
Chr19:11221471 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.250C>T (p.Pro84Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238223] |
Chr19:11102723 [GRCh38]
Chr19:11213399 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.979C>T (p.His327Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001248905]|Hypercholesterolemia, familial, 1 [RCV000238224]|not provided [RCV000590256] |
Chr19:11110690 [GRCh38]
Chr19:11221366 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.762_763inv (p.Cys255Arg) |
inversion |
Hypercholesterolemia, familial, 1 [RCV000238225] |
Chr19:11106632..11106633 [GRCh38]
Chr19:11217308..11217309 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.940+2T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238226]|not provided [RCV003311727] |
Chr19:11107516 [GRCh38]
Chr19:11218192 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1411A>G (p.Arg471Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238227] |
Chr19:11113587 [GRCh38]
Chr19:11224263 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327174]|Familial hypercholesterolemia [RCV002518475]|Hypercholesterolemia, familial, 1 [RCV000238228] |
Chr19:11105349 [GRCh38]
Chr19:11216025 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1549_1555del (p.Ser517fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238229] |
Chr19:11113723..11113729 [GRCh38]
Chr19:11224401..11224407 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.233G>A (p.Arg78His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776465]|Hypercholesterolemia, familial, 1 [RCV000238230]|not specified [RCV003401201] |
Chr19:11102706 [GRCh38]
Chr19:11213382 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.631C>G (p.His211Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238231] |
Chr19:11105537 [GRCh38]
Chr19:11216213 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1860dup (p.Thr621fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238232] |
Chr19:11120104..11120105 [GRCh38]
Chr19:11230782 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001384762]|Hypercholesterolemia, familial, 1 [RCV000238233]|not provided [RCV003441823]|not specified [RCV000781499] |
Chr19:11107400 [GRCh38]
Chr19:11218076 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1968C>G (p.His656Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238234] |
Chr19:11120214 [GRCh38]
Chr19:11230890 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.313+1G>T |
single nucleotide variant |
Homozygous familial hypercholesterolemia [RCV004017540]|Hypercholesterolemia, familial, 1 [RCV000238235] |
Chr19:11102787 [GRCh38]
Chr19:11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1706-69G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238236] |
Chr19:11116790 [GRCh38]
Chr19:11227466 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1946dup (p.Glu650fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238237] |
Chr19:11120188..11120189 [GRCh38]
Chr19:11230868 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581599]|Hypercholesterolemia, familial, 1 [RCV000238238] |
Chr19:11105370 [GRCh38]
Chr19:11216046 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238239] |
Chr19:11116946 [GRCh38]
Chr19:11227622 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182070]|Hypercholesterolemia, familial, 1 [RCV000238240]|not specified [RCV001582802] |
Chr19:11129534 [GRCh38]
Chr19:11240210 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1061-2A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854899]|Hypercholesterolemia, familial, 1 [RCV000238241] |
Chr19:11111512 [GRCh38]
Chr19:11222188 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238242] |
Chr19:11113392 [GRCh38]
Chr19:11224068 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001833251]|Hypercholesterolemia, familial, 1 [RCV000238243]|not specified [RCV000455754] |
Chr19:11105276 [GRCh38]
Chr19:11215952 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2296A>G (p.Thr766Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238244] |
Chr19:11123329 [GRCh38]
Chr19:11234005 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581616]|Hypercholesterolemia, familial, 1 [RCV000238245] |
Chr19:11111604 [GRCh38]
Chr19:11222280 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238246] |
Chr19:11120411..11120422 [GRCh38]
Chr19:11231091..11231102 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1017dup (p.Cys340fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238247] |
Chr19:11110727..11110728 [GRCh38]
Chr19:11221404 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1439_1449del (p.Ala480fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238248] |
Chr19:11113611..11113621 [GRCh38]
Chr19:11224291..11224301 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003479080]|Hypercholesterolemia, familial, 1 [RCV000238249] |
Chr19:11113690 [GRCh38]
Chr19:11224366 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238250] |
Chr19:11129523..11129526 [GRCh38]
Chr19:11240202..11240205 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-153C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV004020944]|Familial hypercholesterolemia [RCV000775251]|Hypercholesterolemia, familial, 1 [RCV000238251]|not provided [RCV001508836] |
Chr19:11089396 [GRCh38]
Chr19:11200072 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| c.(2311+1_2312-1)_(2389+1_2390-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238252] |
Chr19:11238683..11238762 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.865del (p.Cys289fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238253] |
Chr19:11107439 [GRCh38]
Chr19:11218115 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1118G>T (p.Gly373Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854900]|Hypercholesterolemia, familial, 1 [RCV000238254] |
Chr19:11111571 [GRCh38]
Chr19:11222247 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.718G>T (p.Glu240Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229688]|Hypercholesterolemia, familial, 1 [RCV000238256] |
Chr19:11106588 [GRCh38]
Chr19:11217264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1606T>G (p.Trp536Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238257] |
Chr19:11116113 [GRCh38]
Chr19:11226789 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450745]|Familial hypercholesterolemia [RCV001854901]|Hypercholesterolemia, familial, 1 [RCV000238258]|not provided [RCV001256968] |
Chr19:11111598 [GRCh38]
Chr19:11222274 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.940+16G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003298313]|Familial hypercholesterolemia [RCV002055015]|Hypercholesterolemia, familial, 1 [RCV000238259]|not specified [RCV002298555] |
Chr19:11107530 [GRCh38]
Chr19:11218206 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411089]|Familial hypercholesterolemia [RCV000775076]|Hypercholesterolemia, familial, 1 [RCV000238260] |
Chr19:11116914 [GRCh38]
Chr19:11227590 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| FH London 1 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238262] |
Chr19:11230767..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.625_626dup (p.Ile210fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238263] |
Chr19:11105529..11105530 [GRCh38]
Chr19:11216207..11216208 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238264] |
Chr19:11113419 [GRCh38]
Chr19:11224095 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183444]|Hypercholesterolemia, familial, 1 [RCV000238265]|not provided [RCV000996755] |
Chr19:11113729 [GRCh38]
Chr19:11224405 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.676_684dup (p.Ser226_Glu228dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238266] |
Chr19:11105581..11105582 [GRCh38]
Chr19:11216258..11216266 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411085]|Familial hypercholesterolemia [RCV001177566]|Hypercholesterolemia, familial, 1 [RCV000238267]|not provided [RCV001699266] |
Chr19:11116197 [GRCh38]
Chr19:11226873 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372665]|Familial hypercholesterolemia [RCV002518490]|Hypercholesterolemia, familial, 1 [RCV000238268] |
Chr19:11120191 [GRCh38]
Chr19:11230867 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000821494]|Hypercholesterolemia, familial, 1 [RCV000238269]|not provided [RCV001812663] |
Chr19:11120381 [GRCh38]
Chr19:11231057 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1754T>C (p.Ile585Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238270] |
Chr19:11116907 [GRCh38]
Chr19:11227583 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.33_36dup (p.Ala13fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238271] |
Chr19:11089579..11089580 [GRCh38]
Chr19:11200257..11200260 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.466_484dup (p.Pro162fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238272] |
Chr19:11105370..11105371 [GRCh38]
Chr19:11216048..11216066 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2318del (p.Gly773fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238273] |
Chr19:11128012 [GRCh38]
Chr19:11238688 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857827]|Hypercholesterolemia, familial, 1 [RCV000238274]|not provided [RCV001699172] |
Chr19:11113420 [GRCh38]
Chr19:11224096 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.668_681dup (p.Glu228fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238275] |
Chr19:11105573..11105574 [GRCh38]
Chr19:11216250..11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2547+3G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238276] |
Chr19:11129673 [GRCh38]
Chr19:11240349 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356328]|Familial hypercholesterolemia [RCV003581596]|Hypercholesterolemia, familial, 1 [RCV000238277] |
Chr19:11105307 [GRCh38]
Chr19:11215983 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519846]|Hypercholesterolemia, familial, 1 [RCV000238278] |
Chr19:11111611 [GRCh38]
Chr19:11222287 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.758G>C (p.Arg253Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238279] |
Chr19:11106628 [GRCh38]
Chr19:11217304 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238280]|not provided [RCV003326386] |
Chr19:11102734 [GRCh38]
Chr19:11213410 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1186+10G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001485066]|Hypercholesterolemia, familial, 1 [RCV000238281]|not provided [RCV002225534]|not specified [RCV003114409] |
Chr19:11111649 [GRCh38]
Chr19:11222325 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.600C>A (p.Phe200Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238282] |
Chr19:11105506 [GRCh38]
Chr19:11216182 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.316_336del (p.Pro106_Asp112del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238283] |
Chr19:11105221..11105241 [GRCh38]
Chr19:11215898..11215918 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.921T>G (p.Asp307Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238284] |
Chr19:11107495 [GRCh38]
Chr19:11218171 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.373C>T (p.Gln125Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347935]|Homozygous familial hypercholesterolemia [RCV000844734]|Hypercholesterolemia, familial, 1 [RCV000238285] |
Chr19:11105279 [GRCh38]
Chr19:11215955 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379058]|Familial hypercholesterolemia [RCV000588581]|Hypercholesterolemia, familial, 1 [RCV000238286]|not provided [RCV002256181] |
Chr19:11110685 [GRCh38]
Chr19:11221361 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1230G>T (p.Arg410Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238287] |
Chr19:11113321 [GRCh38]
Chr19:11223997 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2140+1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238288] |
Chr19:11120523 [GRCh38]
Chr19:11231199 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238289] |
Chr19:11111523 [GRCh38]
Chr19:11222199 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1735_1736insTCG (p.Val578dup) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238291] |
Chr19:11116887..11116888 [GRCh38]
Chr19:11227564..11227565 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.929T>C (p.Ile310Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238292] |
Chr19:11107503 [GRCh38]
Chr19:11218179 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1845+1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238293] |
Chr19:11116999 [GRCh38]
Chr19:11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.320dup (p.Thr108fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238294] |
Chr19:11105224..11105225 [GRCh38]
Chr19:11215902 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001043441]|Hypercholesterolemia, familial, 1 [RCV000238295] |
Chr19:11107433 [GRCh38]
Chr19:11218109 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238296] |
Chr19:11111639 [GRCh38]
Chr19:11222315 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1845+15C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238297] |
Chr19:11117013 [GRCh38]
Chr19:11227689 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.190+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002411079]|Familial hypercholesterolemia [RCV001854884]|Hypercholesterolemia, familial, 1 [RCV000238298] |
Chr19:11100346 [GRCh38]
Chr19:11211022 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1687C>T (p.Pro563Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238299] |
Chr19:11116194 [GRCh38]
Chr19:11226870 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(1060+1_1061-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238300] |
Chr19:11222189..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2030G>A (p.Cys677Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581638]|Hypercholesterolemia, familial, 1 [RCV000238301] |
Chr19:11120412 [GRCh38]
Chr19:11231088 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.502G>C (p.Asp168His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338782]|Familial hypercholesterolemia [RCV001071431]|Hypercholesterolemia, familial, 1 [RCV000238302] |
Chr19:11105408 [GRCh38]
Chr19:11216084 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1444G>C (p.Asp482His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238303] |
Chr19:11113620 [GRCh38]
Chr19:11224296 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.-221_-220insA |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238304] |
Chr19:11089324..11089325 [GRCh38]
Chr19:11200000..11200001 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| c.(2311+1_2312-1)_*807del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238305] |
Chr19:11238683..11242799 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.708dup (p.Arg237fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238306] |
Chr19:11106577..11106578 [GRCh38]
Chr19:11217254 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.44T>A (p.Leu15His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238308] |
Chr19:11089592 [GRCh38]
Chr19:11200268 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238309]|not provided [RCV000590312] |
Chr19:11113737 [GRCh38]
Chr19:11224413 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NR_163945.1(LDLR-AS1):n.295_297del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238310] |
Chr19:11089363..11089365 [GRCh38]
Chr19:11200039..11200041 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.666C>A (p.Cys222Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518480]|Hypercholesterolemia, familial, 1 [RCV000238311]|not provided [RCV003441822] |
Chr19:11105572 [GRCh38]
Chr19:11216248 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.139G>A (p.Asp47Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392738]|Familial hypercholesterolemia [RCV001377111]|Hypercholesterolemia, familial, 1 [RCV000238312]|not provided [RCV003328575] |
Chr19:11100294 [GRCh38]
Chr19:11210970 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.241C>A (p.Arg81Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238313] |
Chr19:11102714 [GRCh38]
Chr19:11213390 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238314] |
Chr19:11129598 [GRCh38]
Chr19:11240274 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238315] |
Chr19:11113338 [GRCh38]
Chr19:11224014 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1359-5C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001052016]|Hypercholesterolemia, familial, 1 [RCV000238316]|not provided [RCV001568174]|not specified [RCV000844742] |
Chr19:11113530 [GRCh38]
Chr19:11224206 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.820_827del (p.Thr274fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238317] |
Chr19:11107392..11107399 [GRCh38]
Chr19:11218070..11218077 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(940+1_941-1)_(*2514_?)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238318] |
Chr19:11221327..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.705_791del (p.Cys236_Met264del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238319] |
Chr19:11106575..11106661 [GRCh38]
Chr19:11217251..11217337 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238320] |
Chr19:11111563 [GRCh38]
Chr19:11222239 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1186+41T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238321] |
Chr19:11111680 [GRCh38]
Chr19:11222356 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1587-2A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV004020968]|Hypercholesterolemia, familial, 1 [RCV000238322] |
Chr19:11116092 [GRCh38]
Chr19:11226768 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.347_349del (p.Cys116_His117delinsTyr) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238323] |
Chr19:11105253..11105255 [GRCh38]
Chr19:11215929..11215931 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs) |
deletion |
Cardiovascular phenotype [RCV003165672]|Familial hypercholesterolemia [RCV002229694]|Hypercholesterolemia, familial, 1 [RCV000238324] |
Chr19:11123217..11123227 [GRCh38]
Chr19:11233896..11233906 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.593C>A (p.Ser198Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238325] |
Chr19:11105499 [GRCh38]
Chr19:11216175 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1359-1G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519848]|Hypercholesterolemia, familial, 1 [RCV000238326] |
Chr19:11113534 [GRCh38]
Chr19:11224210 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238327] |
Chr19:11116982 [GRCh38]
Chr19:11227658 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2389+4dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238328] |
Chr19:11128087..11128088 [GRCh38]
Chr19:11238765 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177872]|Hypercholesterolemia, familial, 1 [RCV000238329]|not provided [RCV001582801]|not specified [RCV002247686] |
Chr19:11102765 [GRCh38]
Chr19:11213441 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.28_38del (p.Trp10fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238330] |
Chr19:11089573..11089583 [GRCh38]
Chr19:11200252..11200262 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1978C>A (p.Gln660Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238331] |
Chr19:11120224 [GRCh38]
Chr19:11230900 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1998del (p.Trp666fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238332] |
Chr19:11120379 [GRCh38]
Chr19:11231055 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2060dup (p.Asn688fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238333] |
Chr19:11120441..11120442 [GRCh38]
Chr19:11231118 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.407A>T (p.Asp136Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238335] |
Chr19:11105313 [GRCh38]
Chr19:11215989 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418055]|Familial hypercholesterolemia [RCV001216540]|Hypercholesterolemia, familial, 1 [RCV000238336]|LDLR-related condition [RCV003401204] |
Chr19:11113348 [GRCh38]
Chr19:11224024 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001293734]|Hypercholesterolemia, familial, 1 [RCV000238337] |
Chr19:11116903 [GRCh38]
Chr19:11227579 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001238374]|Hypercholesterolemia, familial, 1 [RCV000238338] |
Chr19:11105410 [GRCh38]
Chr19:11216086 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.562del (p.Tyr188fs) |
deletion |
Familial hypercholesterolemia [RCV003479079]|Hypercholesterolemia, familial, 1 [RCV000238339] |
Chr19:11105466 [GRCh38]
Chr19:11216142 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.694_695del (p.Ala232fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238341] |
Chr19:11105598..11106563 [GRCh38]
Chr19:11216276..11217241 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1384G>A (p.Val462Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181608]|Hypercholesterolemia, familial, 1 [RCV000238342] |
Chr19:11113560 [GRCh38]
Chr19:11224236 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1075C>T (p.Gln359Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020959]|Familial hypercholesterolemia [RCV002518483]|Hypercholesterolemia, familial, 1 [RCV000238343] |
Chr19:11111528 [GRCh38]
Chr19:11222204 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418070]|Hypercholesterolemia, familial, 1 [RCV000238344] |
Chr19:11120476 [GRCh38]
Chr19:11231152 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.413C>G (p.Ser138Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229687]|Homozygous familial hypercholesterolemia [RCV004017542]|Hypercholesterolemia, familial, 1 [RCV000238345] |
Chr19:11105319 [GRCh38]
Chr19:11215995 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327172]|Familial hypercholesterolemia [RCV003581597]|Hypercholesterolemia, familial, 1 [RCV000238346]|LDLR-related condition [RCV003401202] |
Chr19:11105334 [GRCh38]
Chr19:11216010 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.85A>T (p.Arg29Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238347] |
Chr19:11100240 [GRCh38]
Chr19:11210916 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1252G>T (p.Glu418Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581619]|Hypercholesterolemia, familial, 1 [RCV000238348] |
Chr19:11113343 [GRCh38]
Chr19:11224019 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.-22del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238349] |
Chr19:11089527 [GRCh38]
Chr19:11200203 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446481]|Familial hypercholesterolemia [RCV001182071]|Hypercholesterolemia, familial, 1 [RCV000238350]|not provided [RCV003736672] |
Chr19:11129599 [GRCh38]
Chr19:11240275 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| c.(817+1_818-1)_(1186+1_1187-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238351] |
Chr19:11218067..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.325_337del (p.Cys109fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238352] |
Chr19:11105227..11105239 [GRCh38]
Chr19:11215907..11215919 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401945]|Familial hypercholesterolemia [RCV001377886]|Hypercholesterolemia, familial, 1 [RCV000238353]|LDLR-related condition [RCV003897581] |
Chr19:11116883 [GRCh38]
Chr19:11227559 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338788]|Familial hypercholesterolemia [RCV000791359]|Hypercholesterolemia, familial, 1 [RCV000238354]|not provided [RCV000478384] |
Chr19:11105425 [GRCh38]
Chr19:11216101 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.947A>C (p.Asn316Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238355] |
Chr19:11110658 [GRCh38]
Chr19:11221334 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1644T>G (p.Asn548Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238356] |
Chr19:11116151 [GRCh38]
Chr19:11226827 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2548-12A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001409431]|Hypercholesterolemia, familial, 1 [RCV000238357]|not provided [RCV002225536] |
Chr19:11131269 [GRCh38]
Chr19:11241945 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.902A>G (p.Asp301Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001233629]|Hypercholesterolemia, familial, 1 [RCV000238358] |
Chr19:11107476 [GRCh38]
Chr19:11218152 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(1586+1_1587-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238359] |
Chr19:11226769..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.265T>G (p.Cys89Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238360] |
Chr19:11102738 [GRCh38]
Chr19:11213414 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2389+2T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238361] |
Chr19:11128087 [GRCh38]
Chr19:11238763 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.190+2T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV004020947]|Hypercholesterolemia, familial, 1 [RCV000238363] |
Chr19:11100347 [GRCh38]
Chr19:11211023 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238364] |
Chr19:11120221 [GRCh38]
Chr19:11230897 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238365] |
Chr19:11116882 [GRCh38]
Chr19:11227558 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-101T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181021]|Hypercholesterolemia, familial, 1 [RCV000238366]|not provided [RCV001800603] |
Chr19:11089448 [GRCh38]
Chr19:11200124 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.230dup (p.Arg78fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238367] |
Chr19:11102698..11102699 [GRCh38]
Chr19:11213379 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238368] |
Chr19:11116949 [GRCh38]
Chr19:11227625 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1618_1620del (p.Ala540del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238370] |
Chr19:11116123..11116125 [GRCh38]
Chr19:11226801..11226803 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1060+40G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518482]|Hypercholesterolemia, familial, 1 [RCV000238371] |
Chr19:11110811 [GRCh38]
Chr19:11221487 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392745]|Familial hypercholesterolemia [RCV000770762]|Hypercholesterolemia, familial, 1 [RCV000238372]|not provided [RCV000519148] |
Chr19:11113678 [GRCh38]
Chr19:11224354 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1296_1298del (p.Asp433del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238373] |
Chr19:11113387..11113389 [GRCh38]
Chr19:11224063..11224065 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001192333]|Hypercholesterolemia, familial, 1 [RCV000238374] |
Chr19:11123324 [GRCh38]
Chr19:11234000 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238375] |
Chr19:11110731 [GRCh38]
Chr19:11221407 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1197_2205del (p.Ala399_Tyr400insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238376] |
Chr19:11113287..11123237 [GRCh38]
Chr19:11223963..11233913 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(940+1_941-1)_(1845+1_1846-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238377] |
Chr19:11221327..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.557del (p.Gly186fs) |
deletion |
Cardiovascular phenotype [RCV002347937]|Familial hypercholesterolemia [RCV002518479]|Hypercholesterolemia, familial, 1 [RCV000238378] |
Chr19:11105460 [GRCh38]
Chr19:11216136 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1472C>A (p.Thr491Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392742]|Hypercholesterolemia, familial, 1 [RCV000238379] |
Chr19:11113648 [GRCh38]
Chr19:11224324 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238380] |
Chr19:11100291 [GRCh38]
Chr19:11210967 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238381] |
Chr19:11113539 [GRCh38]
Chr19:11224215 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.434T>C (p.Val145Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001526129]|Hypercholesterolemia, familial, 1 [RCV000238382] |
Chr19:11105340 [GRCh38]
Chr19:11216016 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238383] |
Chr19:11111570 [GRCh38]
Chr19:11222246 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.349C>T (p.His117Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238384] |
Chr19:11105255 [GRCh38]
Chr19:11215931 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581632]|Hypercholesterolemia, familial, 1 [RCV000238385] |
Chr19:11116976 [GRCh38]
Chr19:11227652 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.313+1dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238386] |
Chr19:11102786..11102787 [GRCh38]
Chr19:11213462..11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.525_536del (p.Asp175_Asp178del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238387] |
Chr19:11105429..11105440 [GRCh38]
Chr19:11216107..11216118 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775074]|Hypercholesterolemia, familial, 1 [RCV000238388] |
Chr19:11116147 [GRCh38]
Chr19:11226823 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1706-2A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238389] |
Chr19:11116857 [GRCh38]
Chr19:11227533 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2056_2068del (p.Gln686fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238390] |
Chr19:11120438..11120450 [GRCh38]
Chr19:11231114..11231126 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1054_1064del (p.Cys352fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238391] |
Chr19:11110765..11111517 [GRCh38]
Chr19:11221441..11222193 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020949]|Familial hypercholesterolemia [RCV001060562]|Hypercholesterolemia, familial, 1 [RCV000238392] |
Chr19:11105366 [GRCh38]
Chr19:11216042 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238393] |
Chr19:11120111 [GRCh38]
Chr19:11230787 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2552del (p.Gln851fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238394] |
Chr19:11131285 [GRCh38]
Chr19:11241961 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.898A>T (p.Arg300Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238395] |
Chr19:11107472 [GRCh38]
Chr19:11218148 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.353del (p.Asp118fs) |
deletion |
Familial hypercholesterolemia [RCV003581595]|Hypercholesterolemia, familial, 1 [RCV000238396]|not provided [RCV001508838] |
Chr19:11105259 [GRCh38]
Chr19:11215935 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.763T>C (p.Cys255Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238397] |
Chr19:11106633 [GRCh38]
Chr19:11217309 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.693_694+20del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238398] |
Chr19:11105597..11105618 [GRCh38]
Chr19:11216275..11216296 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238399] |
Chr19:11113680 [GRCh38]
Chr19:11224356 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.869T>G (p.Ile290Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238400] |
Chr19:11107443 [GRCh38]
Chr19:11218119 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001213617]|Hypercholesterolemia, familial, 1 [RCV000238401] |
Chr19:11113570 [GRCh38]
Chr19:11224246 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1610del (p.Gly537fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238402] |
Chr19:11116114 [GRCh38]
Chr19:11226790 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(190+1_191-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238403] |
Chr19:11213339..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2092del (p.Cys698fs) |
deletion |
Familial hypercholesterolemia [RCV003581640]|Hypercholesterolemia, familial, 1 [RCV000238404] |
Chr19:11120474 [GRCh38]
Chr19:11231150 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.552T>G (p.Cys184Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238405] |
Chr19:11105458 [GRCh38]
Chr19:11216134 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.-36T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238406] |
Chr19:11089513 [GRCh38]
Chr19:11200189 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.941-39C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001080577]|Hypercholesterolemia, familial, 1 [RCV000238407]|not provided [RCV000858129]|not specified [RCV000615723] |
Chr19:11110613 [GRCh38]
Chr19:11221289 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446470]|Familial hypercholesterolemia [RCV001532988]|Hypercholesterolemia, familial, 1 [RCV000238408] |
Chr19:11100246 [GRCh38]
Chr19:11210922 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.649_650insT (p.Asp217fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238409] |
Chr19:11105555..11105556 [GRCh38]
Chr19:11216231..11216232 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854898]|Hypercholesterolemia, familial, 1 [RCV000238410] |
Chr19:11110767 [GRCh38]
Chr19:11221443 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857828]|Hypercholesterolemia, familial, 1 [RCV000238411]|not provided [RCV001699173] |
Chr19:11113651 [GRCh38]
Chr19:11224327 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1097A>C (p.Gln366Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238412] |
Chr19:11111550 [GRCh38]
Chr19:11222226 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238413] |
Chr19:11113753 [GRCh38]
Chr19:11224429 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.695-67_1586+371del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238414] |
Chr19:11106494..11114129 [GRCh38]
Chr19:11217170..11224805 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+57C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238416] |
Chr19:11128142 [GRCh38]
Chr19:11238818 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.418G>A (p.Glu140Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327170]|Familial hypercholesterolemia [RCV000775038]|Hypercholesterolemia, familial, 1 [RCV000238418]|See cases [RCV003231417]|not provided [RCV001090450] |
Chr19:11105324 [GRCh38]
Chr19:11216000 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001220717]|Hypercholesterolemia, familial, 1 [RCV000238419] |
Chr19:11089549 [GRCh38]
Chr19:11200225 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| c.(190+1_191-1)_(313+1_314-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238420] |
Chr19:11213339..11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.101G>C (p.Cys34Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238421] |
Chr19:11100256 [GRCh38]
Chr19:11210932 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(1586+1_1587-1)_(2140+1_2141-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238422] |
Chr19:11226769..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.335_344del (p.Asp112fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238423] |
Chr19:11105240..11105249 [GRCh38]
Chr19:11215917..11215926 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183448]|Hypercholesterolemia, familial, 1 [RCV000238424] |
Chr19:11116168 [GRCh38]
Chr19:11226844 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) |
insertion |
Cardiovascular phenotype [RCV002418051]|Familial hypercholesterolemia [RCV001053052]|Hypercholesterolemia, familial, 1 [RCV000238425] |
Chr19:11102667..11102668 [GRCh38]
Chr19:11213344..11213345 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003165667]|Hypercholesterolemia, familial, 1 [RCV000238426] |
Chr19:11110664 [GRCh38]
Chr19:11221340 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.669G>C (p.Lys223Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741172]|Hypercholesterolemia, familial, 1 [RCV000238427] |
Chr19:11105575 [GRCh38]
Chr19:11216251 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000802806]|Hypercholesterolemia, familial, 1 [RCV000238428]|not specified [RCV001264593] |
Chr19:11106597 [GRCh38]
Chr19:11217273 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1737del (p.Ser580fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238429] |
Chr19:11116890 [GRCh38]
Chr19:11227566 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-208A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238430] |
Chr19:11089341 [GRCh38]
Chr19:11200017 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.605T>C (p.Phe202Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238431] |
Chr19:11105511 [GRCh38]
Chr19:11216187 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238432]|LDLR-related condition [RCV003417848] |
Chr19:11120383 [GRCh38]
Chr19:11231059 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.48C>A (p.Leu16=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338777]|Familial hypercholesterolemia [RCV003581593]|Hypercholesterolemia, familial, 1 [RCV000238433] |
Chr19:11089596 [GRCh38]
Chr19:11200272 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1303del (p.Glu435fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238434] |
Chr19:11113393 [GRCh38]
Chr19:11224069 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.191-1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002411080]|Familial hypercholesterolemia [RCV000588923]|Hypercholesterolemia, familial, 1 [RCV000238435] |
Chr19:11102663 [GRCh38]
Chr19:11213339 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374400]|Familial hypercholesterolemia [RCV000791455]|Hypercholesterolemia, familial, 1 [RCV000238436] |
Chr19:11107506 [GRCh38]
Chr19:11218182 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2209A>G (p.Arg737Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238437] |
Chr19:11123242 [GRCh38]
Chr19:11233918 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.76A>T (p.Arg26Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238438] |
Chr19:11100231 [GRCh38]
Chr19:11210907 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.361T>G (p.Cys121Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238463] |
Chr19:11105267 [GRCh38]
Chr19:11215943 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1060+1G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238464] |
Chr19:11110772 [GRCh38]
Chr19:11221448 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.884del (p.Val295fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238465] |
Chr19:11107458 [GRCh38]
Chr19:11218134 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.661_677del (p.Pro220_Asp221insTer) |
deletion |
Familial hypercholesterolemia [RCV000799450]|Hypercholesterolemia, familial, 1 [RCV000238466] |
Chr19:11105566..11105582 [GRCh38]
Chr19:11216243..11216259 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.801A>T (p.Glu267Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854890]|Hypercholesterolemia, familial, 1 [RCV000238467] |
Chr19:11106671 [GRCh38]
Chr19:11217347 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.-5C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238468] |
Chr19:11089544 [GRCh38]
Chr19:11200220 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238469] |
Chr19:11116868 [GRCh38]
Chr19:11227544 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001057279]|Hypercholesterolemia, familial, 1 [RCV000238470] |
Chr19:11102778 [GRCh38]
Chr19:11213454 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238471]|not provided [RCV000657895] |
Chr19:11113590..11113591 [GRCh38]
Chr19:11224267..11224270 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1519A>G (p.Lys507Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238472] |
Chr19:11113695 [GRCh38]
Chr19:11224371 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.941-2A>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854896]|Hypercholesterolemia, familial, 1 [RCV000238473] |
Chr19:11110650 [GRCh38]
Chr19:11221326 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001321570]|Hypercholesterolemia, familial, 1 [RCV000238474]|not provided [RCV003441825] |
Chr19:11116140 [GRCh38]
Chr19:11226816 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1807A>T (p.Lys603Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238475] |
Chr19:11116960 [GRCh38]
Chr19:11227636 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446471]|Familial hypercholesterolemia [RCV001854882]|Hypercholesterolemia, familial, 1 [RCV000238476] |
Chr19:11100263 [GRCh38]
Chr19:11210939 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.447T>C (p.Gly149=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003278719]|Familial hypercholesterolemia [RCV001391769]|Hypercholesterolemia, familial, 1 [RCV000238477]|not specified [RCV000781508] |
Chr19:11105353 [GRCh38]
Chr19:11216029 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|uncertain significance |
| NM_000527.5(LDLR):c.949G>T (p.Glu317Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238478] |
Chr19:11110660 [GRCh38]
Chr19:11221336 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.377T>A (p.Phe126Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238479] |
Chr19:11105283 [GRCh38]
Chr19:11215959 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(1186+1_1187-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238480] |
Chr19:11223953..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1987+10G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001505338]|Hypercholesterolemia, familial, 1 [RCV000238481]|not provided [RCV000587398] |
Chr19:11120243 [GRCh38]
Chr19:11230919 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.301G>T (p.Glu101Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238482] |
Chr19:11102774 [GRCh38]
Chr19:11213450 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238483] |
Chr19:11113594 [GRCh38]
Chr19:11224270 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2299del (p.Met767fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238484] |
Chr19:11123331 [GRCh38]
Chr19:11234007 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.565G>A (p.Val189Met) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238485] |
Chr19:11105471 [GRCh38]
Chr19:11216147 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.645_646del (p.Arg215_Cys216insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238486] |
Chr19:11105551..11105552 [GRCh38]
Chr19:11216227..11216228 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418069]|Hypercholesterolemia, familial, 1 [RCV000238487] |
Chr19:11120454 [GRCh38]
Chr19:11231130 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1309dup (p.Ala437fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238488] |
Chr19:11113398..11113399 [GRCh38]
Chr19:11224076 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411105]|Familial hypercholesterolemia [RCV003581635]|Hypercholesterolemia, familial, 1 [RCV000238489] |
Chr19:11120152 [GRCh38]
Chr19:11230828 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1123_1124insC (p.Tyr375fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238490] |
Chr19:11111576..11111577 [GRCh38]
Chr19:11222252..11222253 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| FH Vancouver 2 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238491] |
Chr19:11240188..11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238492] |
Chr19:11113296..11113297 [GRCh38]
Chr19:11223973..11223974 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2226del (p.Thr743fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238493] |
Chr19:11123258 [GRCh38]
Chr19:11233934 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1833_1841del (p.Leu611_Val613del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238494] |
Chr19:11116983..11116991 [GRCh38]
Chr19:11227662..11227670 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191369]|Hypercholesterolemia, familial, 1 [RCV000238495]|not specified [RCV000454858] |
Chr19:11110735 [GRCh38]
Chr19:11221411 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775079]|Hypercholesterolemia, familial, 1 [RCV000238461]|not provided [RCV003477857]|not specified [RCV002509336] |
Chr19:11120120 [GRCh38]
Chr19:11230796 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1129T>G (p.Cys377Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238460] |
Chr19:11111582 [GRCh38]
Chr19:11222258 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1658A>G (p.Tyr553Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238459] |
Chr19:11116165 [GRCh38]
Chr19:11226841 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2416dup (p.Val806fs) |
duplication |
Cardiovascular phenotype [RCV002450750]|Familial hypercholesterolemia [RCV000780378]|Homozygous familial hypercholesterolemia [RCV004017567]|Hypercholesterolemia, familial, 1 [RCV000238458]|not provided [RCV000486216] |
Chr19:11129534..11129535 [GRCh38]
Chr19:11240215 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.694+25C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000858461]|Hypercholesterolemia, familial, 1 [RCV000238457]|not provided [RCV001699250]|not specified [RCV000606160] |
Chr19:11105625 [GRCh38]
Chr19:11216301 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2063dup (p.Asn688fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238456] |
Chr19:11120443..11120444 [GRCh38]
Chr19:11231121 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.199dup (p.Thr67fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238455] |
Chr19:11102671..11102672 [GRCh38]
Chr19:11213348 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.776_777del (p.Glu258_Tyr259insTer) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000238454] |
Chr19:11106644..11106645 [GRCh38]
Chr19:11217320..11217321 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.532G>C (p.Asp178His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238453] |
Chr19:11105438 [GRCh38]
Chr19:11216114 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392739]|Familial hypercholesterolemia [RCV001191123]|Hypercholesterolemia, familial, 1 [RCV000238452]|not provided [RCV000985762]|not specified [RCV000455469] |
Chr19:11100303 [GRCh38]
Chr19:11210979 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.357del (p.Lys120fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238451] |
Chr19:11105261 [GRCh38]
Chr19:11215937 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1279A>C (p.Arg427=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374405]|Familial hypercholesterolemia [RCV000858679]|Hypercholesterolemia, familial, 1 [RCV000238450] |
Chr19:11113370 [GRCh38]
Chr19:11224046 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.578_584del (p.Asp193fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238449] |
Chr19:11105483..11105489 [GRCh38]
Chr19:11216160..11216166 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(1186+1_1187-1)_(1358+1_1359-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238448] |
Chr19:11223953..11224126 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.300C>T (p.Asp100=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436074]|Familial hypercholesterolemia [RCV000775031]|Hypercholesterolemia, familial, 1 [RCV000238447] |
Chr19:11102773 [GRCh38]
Chr19:11213449 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238446] |
Chr19:11105349 [GRCh38]
Chr19:11216025 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372668]|Familial hypercholesterolemia [RCV001523921]|Hypercholesterolemia, familial, 1 [RCV000238445]|not provided [RCV001558972]|not specified [RCV002247687] |
Chr19:11128071 [GRCh38]
Chr19:11238747 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1091G>C (p.Cys364Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238443] |
Chr19:11111544 [GRCh38]
Chr19:11222220 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238442] |
Chr19:11116987 [GRCh38]
Chr19:11227663 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.810C>A (p.Cys270Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854891]|Hypercholesterolemia, familial, 1 [RCV000238441] |
Chr19:11106680 [GRCh38]
Chr19:11217356 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1736A>C (p.Asp579Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238440] |
Chr19:11116889 [GRCh38]
Chr19:11227565 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.515A>G (p.Asp172Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338785]|Hypercholesterolemia, familial, 1 [RCV000238439] |
Chr19:11105421 [GRCh38]
Chr19:11216097 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374401]|Familial hypercholesterolemia [RCV003581611]|Hypercholesterolemia, familial, 1 [RCV000238496] |
Chr19:11107511 [GRCh38]
Chr19:11218187 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.877del (p.Asp293fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238497] |
Chr19:11107450 [GRCh38]
Chr19:11218126 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001377885]|Hypercholesterolemia, familial, 1 [RCV000238498] |
Chr19:11113326 [GRCh38]
Chr19:11224002 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1779del (p.Asn594fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238499] |
Chr19:11116932 [GRCh38]
Chr19:11227608 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238500] |
Chr19:11113413 [GRCh38]
Chr19:11224089 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1706-1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183449]|Hypercholesterolemia, familial, 1 [RCV000238501] |
Chr19:11116858 [GRCh38]
Chr19:11227534 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.476C>T (p.Thr159Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238502] |
Chr19:11105382 [GRCh38]
Chr19:11216058 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854909]|Hypercholesterolemia, familial, 1 [RCV000238503] |
Chr19:11120203 [GRCh38]
Chr19:11230879 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.313+6T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238504] |
Chr19:11102792 [GRCh38]
Chr19:11213468 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1062dup (p.Ile355fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238505] |
Chr19:11111514..11111515 [GRCh38]
Chr19:11222191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.190+56G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238506] |
Chr19:11100401 [GRCh38]
Chr19:11211077 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020967]|Hypercholesterolemia, familial, 1 [RCV000238507] |
Chr19:11113701 [GRCh38]
Chr19:11224377 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1846-1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238508] |
Chr19:11120091 [GRCh38]
Chr19:11230767 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857819]|Hypercholesterolemia, familial, 1 [RCV000238509] |
Chr19:11100312 [GRCh38]
Chr19:11210988 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(67+1_68-1)_(1705+1_1706-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238510] |
Chr19:11210898..11226889 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.770G>T (p.Arg257Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238511] |
Chr19:11106640 [GRCh38]
Chr19:11217316 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238512] |
Chr19:11128037..11128041 [GRCh38]
Chr19:11238715..11238719 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1008del (p.Gly335_Tyr336insTer) |
deletion |
Familial hypercholesterolemia [RCV000808601]|Hypercholesterolemia, familial, 1 [RCV000238513] |
Chr19:11110719 [GRCh38]
Chr19:11221395 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1336del (p.Leu446fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238514] |
Chr19:11113426 [GRCh38]
Chr19:11224102 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.245G>T (p.Cys82Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002229813]|Hypercholesterolemia, familial, 1 [RCV000238515] |
Chr19:11102718 [GRCh38]
Chr19:11213394 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238516] |
Chr19:11116132 [GRCh38]
Chr19:11226808 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392741]|Familial hypercholesterolemia [RCV001210317]|Homozygous familial hypercholesterolemia [RCV004017557]|Hypercholesterolemia, familial, 1 [RCV000238517]|not provided [RCV000480044] |
Chr19:11113623 [GRCh38]
Chr19:11224299 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.362G>T (p.Cys121Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238518] |
Chr19:11105268 [GRCh38]
Chr19:11215944 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.642G>A (p.Trp214Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365240]|Hypercholesterolemia, familial, 1 [RCV000238519]|not provided [RCV003477849] |
Chr19:11105548 [GRCh38]
Chr19:11216224 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1567G>T (p.Val523Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238520] |
Chr19:11113743 [GRCh38]
Chr19:11224419 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.671A>T (p.Asp224Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374395]|Hypercholesterolemia, familial, 1 [RCV000238521] |
Chr19:11105577 [GRCh38]
Chr19:11216253 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.767A>G (p.Asp256Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238522] |
Chr19:11106637 [GRCh38]
Chr19:11217313 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238523] |
Chr19:11120425 [GRCh38]
Chr19:11231101 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1987+1del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238524] |
Chr19:11120233 [GRCh38]
Chr19:11230909 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.941-13T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238525] |
Chr19:11110639 [GRCh38]
Chr19:11221315 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2140+2T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238526] |
Chr19:11120524 [GRCh38]
Chr19:11231200 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1208del (p.Phe403fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238527] |
Chr19:11113298 [GRCh38]
Chr19:11223974 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379065]|Familial hypercholesterolemia [RCV001053274]|Hypercholesterolemia, familial, 1 [RCV000238528] |
Chr19:11113433 [GRCh38]
Chr19:11224109 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.1705delG (p.Asp569Ilefs) |
deletion |
Familial hypercholesterolemia [RCV000238529] |
Chr19:11116212 [GRCh38]
Chr19:11226888 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.244del (p.Cys82fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238530] |
Chr19:11102717 [GRCh38]
Chr19:11213393 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1587_1591del (p.Phe530fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238531] |
Chr19:11116094..11116098 [GRCh38]
Chr19:11226770..11226774 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1801G>T (p.Asp601Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238532] |
Chr19:11116954 [GRCh38]
Chr19:11227630 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| c.(1705+1_1706-1)_(1845+1_1846-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238533] |
Chr19:11227534..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2417T>A (p.Val806Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238534] |
Chr19:11129540 [GRCh38]
Chr19:11240216 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.382T>C (p.Cys128Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238535] |
Chr19:11105288 [GRCh38]
Chr19:11215964 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2311+1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238536] |
Chr19:11123345 [GRCh38]
Chr19:11234021 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1168A>T (p.Lys390Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238537] |
Chr19:11111621 [GRCh38]
Chr19:11222297 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020966]|Familial hypercholesterolemia [RCV001248906]|Hypercholesterolemia, familial, 1 [RCV000238538] |
Chr19:11113600 [GRCh38]
Chr19:11224276 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338781]|Hypercholesterolemia, familial, 1 [RCV000238539] |
Chr19:11105385 [GRCh38]
Chr19:11216061 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238540] |
Chr19:11111514 [GRCh38]
Chr19:11222190 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411101]|Familial hypercholesterolemia [RCV000771171]|Hypercholesterolemia, familial, 1 [RCV000238541]|not specified [RCV000426889] |
Chr19:11120113 [GRCh38]
Chr19:11230789 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.191-252_191-247del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238542] |
Chr19:11102410..11102415 [GRCh38]
Chr19:11213086..11213091 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418064]|Familial hypercholesterolemia [RCV001248907]|Homozygous familial hypercholesterolemia [RCV004017564]|Hypercholesterolemia, familial, 1 [RCV000238543]|not provided [RCV002508207] |
Chr19:11120419 [GRCh38]
Chr19:11231095 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| FH Bologna 2 |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238544] |
Chr19:11230767..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.388T>A (p.Ser130Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804974]|Hypercholesterolemia, familial, 1 [RCV000238545] |
Chr19:11105294 [GRCh38]
Chr19:11215970 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1925T>C (p.Leu642Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238546] |
Chr19:11120171 [GRCh38]
Chr19:11230847 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.617del (p.Ser206fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238547] |
Chr19:11105523 [GRCh38]
Chr19:11216199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581644]|Hypercholesterolemia, familial, 1 [RCV000238548] |
Chr19:11123179 [GRCh38]
Chr19:11233855 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000238549] |
Chr19:11110670..11110672 [GRCh38]
Chr19:11221346..11221348 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1449G>A (p.Trp483Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238550] |
Chr19:11113625 [GRCh38]
Chr19:11224301 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.508_509insC (p.Asp170fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238551] |
Chr19:11105414..11105415 [GRCh38]
Chr19:11216090..11216091 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.11224039_11224040ins(96) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000238552] |
Chr19:11113363..11113364 [GRCh38]
Chr19:11224039..11224040 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.742T>G (p.Cys248Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238553] |
Chr19:11106612 [GRCh38]
Chr19:11217288 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2500_2502delinsC (p.Asp834fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000238554] |
Chr19:11129623..11129625 [GRCh38]
Chr19:11240299..11240301 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298317]|Familial hypercholesterolemia [RCV003581628]|Hypercholesterolemia, familial, 1 [RCV000238555] |
Chr19:11113750 [GRCh38]
Chr19:11224426 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1066G>C (p.Asp356His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238556] |
Chr19:11111519 [GRCh38]
Chr19:11222195 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.915G>A (p.Trp305Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238557] |
Chr19:11107489 [GRCh38]
Chr19:11218165 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.632A>T (p.His211Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020952]|Familial hypercholesterolemia [RCV001345581]|Hypercholesterolemia, familial, 1 [RCV000238558]|not provided [RCV000587367] |
Chr19:11105538 [GRCh38]
Chr19:11216214 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.935_936del (p.Glu312fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000238559] |
Chr19:11107507..11107508 [GRCh38]
Chr19:11218183..11218184 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-146C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238560] |
Chr19:11089403 [GRCh38]
Chr19:11200079 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.680A>T (p.Asp227Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001066736]|Hypercholesterolemia, familial, 1 [RCV000238561] |
Chr19:11105586 [GRCh38]
Chr19:11216262 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1702_1705dup (p.Asp569fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238562] |
Chr19:11116208..11116209 [GRCh38]
Chr19:11226885..11226888 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429168]|Familial hypercholesterolemia [RCV001057934]|Hypercholesterolemia, familial, 1 [RCV000238563] |
Chr19:11102743 [GRCh38]
Chr19:11213419 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2198C>T (p.Ser733Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238564] |
Chr19:11123231 [GRCh38]
Chr19:11233907 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.314-3C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238565] |
Chr19:11105217 [GRCh38]
Chr19:11215893 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| c.(67+1_68-1)_(2311+1_2312-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238566] |
Chr19:11210898..11234021 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2389+14G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002518501]|Hypercholesterolemia, familial, 1 [RCV000238567]|LDLR-related condition [RCV003919999] |
Chr19:11128099 [GRCh38]
Chr19:11238775 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| c.(1586+1_1587-1)_(2547+1_2548-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238568] |
Chr19:11226769..11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1766del (p.Asp589fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238569] |
Chr19:11116919 [GRCh38]
Chr19:11227595 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238571] |
Chr19:11116993 [GRCh38]
Chr19:11227669 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1085del (p.Asp362fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238572] |
Chr19:11111538 [GRCh38]
Chr19:11222214 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450742]|Familial hypercholesterolemia [RCV000776467]|Homozygous familial hypercholesterolemia [RCV004017538]|Hypercholesterolemia, familial, 1 [RCV000238573]|not provided [RCV000494304] |
Chr19:11102741 [GRCh38]
Chr19:11213417 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1174dup (p.Cys392fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000238574] |
Chr19:11111626..11111627 [GRCh38]
Chr19:11222303 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2360T>A (p.Val787Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238575] |
Chr19:11128056 [GRCh38]
Chr19:11238732 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2015del (p.Leu672fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238576] |
Chr19:11120397 [GRCh38]
Chr19:11231073 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1365del (p.Gln455fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238577] |
Chr19:11113541 [GRCh38]
Chr19:11224217 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401931]|Familial hypercholesterolemia [RCV002519844]|Hypercholesterolemia, familial, 1 [RCV000238578] |
Chr19:11110715 [GRCh38]
Chr19:11221391 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.491T>C (p.Leu164Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186869]|Hypercholesterolemia, familial, 1 [RCV000238579]|not provided [RCV003221883] |
Chr19:11105397 [GRCh38]
Chr19:11216073 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238580] |
Chr19:11120501 [GRCh38]
Chr19:11231177 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418065]|Familial hypercholesterolemia [RCV002229816]|Hypercholesterolemia, familial, 1 [RCV000238581] |
Chr19:11120424 [GRCh38]
Chr19:11231100 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| c.(?_-187)_(190+1_191-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238582] |
Chr19:11200038..11211022 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020961]|Familial hypercholesterolemia [RCV000775061]|Hypercholesterolemia, familial, 1 [RCV000238583]|not provided [RCV003477854] |
Chr19:11113332 [GRCh38]
Chr19:11224008 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.611G>C (p.Cys204Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238584] |
Chr19:11105517 [GRCh38]
Chr19:11216193 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.67+2015G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001512649]|Hypercholesterolemia, familial, 1 [RCV000238585] |
Chr19:11091630 [GRCh38]
Chr19:11202306 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1456A>G (p.Ser486Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000238586] |
Chr19:11113632 [GRCh38]
Chr19:11224308 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338784]|Familial hypercholesterolemia [RCV001385842]|Hypercholesterolemia, familial, 1 [RCV000238587] |
Chr19:11105420 [GRCh38]
Chr19:11216096 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.416A>G (p.Asp139Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000807684]|Hypercholesterolemia, familial, 1 [RCV000238588] |
Chr19:11105322 [GRCh38]
Chr19:11215998 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581622]|Hypercholesterolemia, familial, 1 [RCV000238589] |
Chr19:11113443 [GRCh38]
Chr19:11224119 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.695-6_698del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238206] |
Chr19:11106558..11106567 [GRCh38]
Chr19:11217235..11217244 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581625]|Hypercholesterolemia, familial, 1 [RCV000237101] |
Chr19:11113612 [GRCh38]
Chr19:11224288 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1637G>T (p.Gly546Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854904]|Homozygous familial hypercholesterolemia [RCV004017561]|Hypercholesterolemia, familial, 1 [RCV000237102] |
Chr19:11116144 [GRCh38]
Chr19:11226820 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1185G>C (p.Val395=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741174]|Hypercholesterolemia, familial, 1 [RCV000237103] |
Chr19:11111638 [GRCh38]
Chr19:11222314 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.790_793del (p.Met264fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237104] |
Chr19:11106660..11106663 [GRCh38]
Chr19:11217336..11217339 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237105] |
Chr19:11100342 [GRCh38]
Chr19:11211018 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2053C>T (p.Pro685Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237106] |
Chr19:11120435 [GRCh38]
Chr19:11231111 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.583_589del (p.Ser195fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237107] |
Chr19:11105488..11105494 [GRCh38]
Chr19:11216165..11216171 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.691T>G (p.Cys231Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374396]|Familial hypercholesterolemia [RCV001857824]|Hypercholesterolemia, familial, 1 [RCV000237108] |
Chr19:11105597 [GRCh38]
Chr19:11216273 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237109] |
Chr19:11123197 [GRCh38]
Chr19:11233873 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.283T>A (p.Cys95Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237111] |
Chr19:11102756 [GRCh38]
Chr19:11213432 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.389dup (p.Asp131fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237112] |
Chr19:11105294..11105295 [GRCh38]
Chr19:11215971 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(67+1_68-1)_(190+1_191-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237113] |
Chr19:11210898..11211022 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| c.(2311+1_2312-1)_(2547+1_2548-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237114] |
Chr19:11238683..11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020962]|Familial hypercholesterolemia [RCV001182458]|Homozygous familial hypercholesterolemia [RCV004017554]|Hypercholesterolemia, familial, 1 [RCV000237115]|not provided [RCV000437123] |
Chr19:11113338 [GRCh38]
Chr19:11224014 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1988-5C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002418059]|Familial hypercholesterolemia [RCV000776246]|Hypercholesterolemia, familial, 1 [RCV000237116]|not provided [RCV003105835] |
Chr19:11120365 [GRCh38]
Chr19:11231041 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237117]|not provided [RCV001699251] |
Chr19:11113725 [GRCh38]
Chr19:11224401 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2458_2466del (p.Ser820_Asn822del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237118] |
Chr19:11129574..11129582 [GRCh38]
Chr19:11240257..11240265 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1607G>A (p.Trp536Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237119] |
Chr19:11116114 [GRCh38]
Chr19:11226790 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.648_656del (p.Asp217_Gly219del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237120] |
Chr19:11105553..11105561 [GRCh38]
Chr19:11216230..11216238 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1880C>T (p.Ala627Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001854907]|Hypercholesterolemia, familial, 1 [RCV000237121] |
Chr19:11120126 [GRCh38]
Chr19:11230802 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1973T>C (p.Leu658Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237122] |
Chr19:11120219 [GRCh38]
Chr19:11230895 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.683A>C (p.Glu228Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237123]|not provided [RCV000421699] |
Chr19:11105589 [GRCh38]
Chr19:11216265 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237124] |
Chr19:11120466..11120484 [GRCh38]
Chr19:11231143..11231161 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.397G>A (p.Asp133Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002519839]|Hypercholesterolemia, familial, 1 [RCV000237125] |
Chr19:11105303 [GRCh38]
Chr19:11215979 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1244A>G (p.Asp415Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237127] |
Chr19:11113335 [GRCh38]
Chr19:11224011 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237128] |
Chr19:11113636 [GRCh38]
Chr19:11224312 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2133C>A (p.Cys711Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237129] |
Chr19:11120515 [GRCh38]
Chr19:11231191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1067del (p.Asp356fs) |
deletion |
Cardiovascular phenotype [RCV004020958]|Hypercholesterolemia, familial, 1 [RCV000237130] |
Chr19:11111520 [GRCh38]
Chr19:11222196 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000586212]|Homozygous familial hypercholesterolemia [RCV004017560]|Hypercholesterolemia, familial, 1 [RCV000237131] |
Chr19:11116141 [GRCh38]
Chr19:11226817 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.255G>T (p.Gln85His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237132] |
Chr19:11102728 [GRCh38]
Chr19:11213404 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.890del (p.Asn297fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237133] |
Chr19:11107463 [GRCh38]
Chr19:11218139 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1705+56C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237134] |
Chr19:11116268 [GRCh38]
Chr19:11226944 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1721G>A (p.Arg574His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411086]|Familial hypercholesterolemia [RCV000791382]|Hypercholesterolemia [RCV001256078]|Hypercholesterolemia, familial, 1 [RCV000237135]|LDLR-related condition [RCV003401206]|not provided [RCV002461041]|not specified [RCV002287397] |
Chr19:11116874 [GRCh38]
Chr19:11227550 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| c.(313+1_314-1)_(1186+1_1187-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000237136] |
Chr19:11215895..11222316 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1789del (p.Thr597fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237137] |
Chr19:11116942 [GRCh38]
Chr19:11227618 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1586+1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237138] |
Chr19:11113763 [GRCh38]
Chr19:11224439 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1060+59A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237139] |
Chr19:11110830 [GRCh38]
Chr19:11221506 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2055_2067del (p.Gln686fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237140] |
Chr19:11120433..11120445 [GRCh38]
Chr19:11231113..11231125 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.173A>G (p.Glu58Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000237141] |
Chr19:11100328 [GRCh38]
Chr19:11211004 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.4G>C (p.Gly2Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020945]|Familial hypercholesterolemia [RCV001182216]|Hypercholesterolemia, familial, 1 [RCV000237142] |
Chr19:11089552 [GRCh38]
Chr19:11200228 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001236838]|Hypercholesterolemia, familial, 1 [RCV000237110] |
Chr19:11105405 [GRCh38]
Chr19:11216081 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.618_638del (p.Gly207_Ser213del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000256237] |
Chr19:11105522..11105542 [GRCh38]
Chr19:11216198..11216218 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+46C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256240] |
Chr19:11128131 [GRCh38]
Chr19:11238807 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.*52G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256250]|not provided [RCV001707608] |
Chr19:11131368 [GRCh38]
Chr19:11242044 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.324G>T (p.Thr108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321925]|Hypercholesterolemia, familial, 1 [RCV000508926]|not specified [RCV000244130] |
Chr19:11105230 [GRCh38]
Chr19:11215906 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1359-13C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002379077]|Familial hypercholesterolemia [RCV002055043]|not specified [RCV000246480] |
Chr19:11113522 [GRCh38]
Chr19:11224198 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.1061-?_1845+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000256277] |
Chr19:11222190..11227674 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.314-50T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256282] |
Chr19:11105170 [GRCh38]
Chr19:11215846 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1830_1839del (p.Ala612fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000256288] |
Chr19:11116981..11116990 [GRCh38]
Chr19:11227657..11227666 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1499T>C (p.Val500Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256293] |
Chr19:11113675 [GRCh38]
Chr19:11224351 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.1846-?_2311+?dup |
duplication |
Familial hypercholesterolemia [RCV000256301] |
Chr19:11230767..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.2312-?_*2514del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000256303] |
Chr19:11238683..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.818-3C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256323] |
Chr19:11107389 [GRCh38]
Chr19:11218065 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.*13A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256329]|not provided [RCV001561866]|not specified [RCV003401221] |
Chr19:11131329 [GRCh38]
Chr19:11242005 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2548-80G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256333] |
Chr19:11131201 [GRCh38]
Chr19:11241877 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1434G>A (p.Gly478=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000256337] |
Chr19:11113610 [GRCh38]
Chr19:11224286 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.68-?_313+?del |
deletion |
Familial hypercholesterolemia 1 [RCV000256339]|Familial hypercholesterolemia [RCV000256339] |
Chr19:11210898..11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1167G>A (p.Thr389=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327178]|Familial hypercholesterolemia [RCV000775058]|Hypercholesterolemia, familial, 1 [RCV000495926]|not provided [RCV003477868]|not specified [RCV000249917] |
Chr19:11111620 [GRCh38]
Chr19:11222296 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-187_67+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000239883] |
Chr19:11089362..11089615 [GRCh38]
Chr19:11200038..11200291 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.*315G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001510119]|Hypercholesterolemia, familial, 1 [RCV000303920] |
Chr19:11131631 [GRCh38]
Chr19:11242307 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1510T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000270110] |
Chr19:11132826 [GRCh38]
Chr19:11243502 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*773A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000288127] |
Chr19:11132089 [GRCh38]
Chr19:11242765 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1133G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000273436] |
Chr19:11132449 [GRCh38]
Chr19:11243125 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2319C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000260523] |
Chr19:11133635 [GRCh38]
Chr19:11244311 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*503C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000260701] |
Chr19:11131819 [GRCh38]
Chr19:11242495 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1988-13T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775083]|Hypercholesterolemia, familial, 1 [RCV000278795] |
Chr19:11120357 [GRCh38]
Chr19:11231033 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*1336C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000279863] |
Chr19:11132652 [GRCh38]
Chr19:11243328 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1268C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000281464] |
Chr19:11132584 [GRCh38]
Chr19:11243260 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1168G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000269619] |
Chr19:11132484 [GRCh38]
Chr19:11243160 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.4(LDLR):c.2412dupG (p.Val806Glyfs) |
duplication |
Familial hypercholesterolemia [RCV000408805] |
Chr19:11129535 [GRCh38]
Chr19:11240211 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.370dup (p.Arg124fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000408817] |
Chr19:11105275..11105276 [GRCh38]
Chr19:11215951..11215952 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.*141G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000343757]|not provided [RCV002222488] |
Chr19:11131457 [GRCh38]
Chr19:11242133 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1430C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000309993] |
Chr19:11132746 [GRCh38]
Chr19:11243422 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*338G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000358814] |
Chr19:11131654 [GRCh38]
Chr19:11242330 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*1793A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000281989] |
Chr19:11133109 [GRCh38]
Chr19:11243785 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1600G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000322817] |
Chr19:11132916 [GRCh38]
Chr19:11243592 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.191-15C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177565]|Hypercholesterolemia, familial, 1 [RCV000313351] |
Chr19:11102649 [GRCh38]
Chr19:11213325 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.*1453A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000362391] |
Chr19:11132769 [GRCh38]
Chr19:11243445 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1960C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000346390] |
Chr19:11133276 [GRCh38]
Chr19:11243952 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*982G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000395133] |
Chr19:11132298 [GRCh38]
Chr19:11242974 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*994C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000313295] |
Chr19:11132310 [GRCh38]
Chr19:11242986 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*504G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000315927] |
Chr19:11131820 [GRCh38]
Chr19:11242496 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.940+9C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002374559]|Familial hypercholesterolemia [RCV000776471]|Hypercholesterolemia, familial, 1 [RCV000397562]|not provided [RCV000858185] |
Chr19:11107523 [GRCh38]
Chr19:11218199 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.*1376T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000368842] |
Chr19:11132692 [GRCh38]
Chr19:11243368 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*2196TA[12] |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000301963] |
Chr19:11133511..11133512 [GRCh38]
Chr19:11244187..11244188 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2208T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000261855]|LDLR-related condition [RCV003897748] |
Chr19:11133524 [GRCh38]
Chr19:11244200 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*2384G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000273357] |
Chr19:11133700 [GRCh38]
Chr19:11244376 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1216dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000326993] |
Chr19:11132531..11132532 [GRCh38]
Chr19:11243207..11243208 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*808T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000283051] |
Chr19:11132124 [GRCh38]
Chr19:11242800 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1762T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000373852] |
Chr19:11133078 [GRCh38]
Chr19:11243754 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2054G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000308039] |
Chr19:11133370 [GRCh38]
Chr19:11244046 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775088]|Hypercholesterolemia, familial, 1 [RCV000352480]|not provided [RCV000712213]|not specified [RCV003330641] |
Chr19:11120488 [GRCh38]
Chr19:11231164 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.*1232CTA[1] |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000287334] |
Chr19:11132548..11132550 [GRCh38]
Chr19:11243224..11243226 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1217C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000379226] |
Chr19:11132533 [GRCh38]
Chr19:11243209 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*372C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000264046] |
Chr19:11131688 [GRCh38]
Chr19:11242364 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1262T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000378249] |
Chr19:11132578 [GRCh38]
Chr19:11243254 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1332G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000403238] |
Chr19:11132648 [GRCh38]
Chr19:11243324 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1140G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000330860] |
Chr19:11132456 [GRCh38]
Chr19:11243132 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*563G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000276245] |
Chr19:11131879 [GRCh38]
Chr19:11242555 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*420C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000355666] |
Chr19:11131736 [GRCh38]
Chr19:11242412 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2389+7G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775090]|Hypercholesterolemia, familial, 1 [RCV000404896] |
Chr19:11128092 [GRCh38]
Chr19:11238768 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2140+14C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003765899]|Hypercholesterolemia, familial, 1 [RCV000388415] |
Chr19:11120536 [GRCh38]
Chr19:11231212 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*653G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000291580] |
Chr19:11131969 [GRCh38]
Chr19:11242645 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1292C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000338391] |
Chr19:11132608 [GRCh38]
Chr19:11243284 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1419C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000397548] |
Chr19:11132735 [GRCh38]
Chr19:11243411 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*2196TA[7] |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000359060] |
Chr19:11133512..11133513 [GRCh38]
Chr19:11244188..11244189 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*584G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000385753] |
Chr19:11131900 [GRCh38]
Chr19:11242576 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1743C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000263986] |
Chr19:11133059 [GRCh38]
Chr19:11243735 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*666T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000346475] |
Chr19:11131982 [GRCh38]
Chr19:11242658 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*2016G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000402884] |
Chr19:11133332 [GRCh38]
Chr19:11244008 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*1354T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000405184] |
Chr19:11132670 [GRCh38]
Chr19:11243346 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.498C>T (p.Ala166=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338917]|Familial hypercholesterolemia [RCV000775040]|Hypercholesterolemia, familial, 1 [RCV000349498]|not provided [RCV003477895] |
Chr19:11105404 [GRCh38]
Chr19:11216080 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.*1340C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000351249] |
Chr19:11132656 [GRCh38]
Chr19:11243332 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.340_344del (p.Phe114fs) |
deletion |
Familial hypercholesterolemia [RCV000775240]|Hypercholesterolemia, familial, 1 [RCV000408757] |
Chr19:11105245..11105249 [GRCh38]
Chr19:11215921..11215925 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372695]|Familial hypercholesterolemia [RCV001389808]|Hypercholesterolemia, familial, 1 [RCV000408760]|LDLR-related condition [RCV003401380]|not provided [RCV001256966] |
Chr19:11123200 [GRCh38]
Chr19:11233876 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001861358]|Hypercholesterolemia, familial, 1 [RCV000408761] |
Chr19:11111544 [GRCh38]
Chr19:11222220 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.467del (p.Asn156fs) |
deletion |
Cardiovascular phenotype [RCV003168585]|Familial hypercholesterolemia [RCV001861360]|Hypercholesterolemia, familial, 1 [RCV000408765]|not provided [RCV001008350] |
Chr19:11105372 [GRCh38]
Chr19:11216048 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.299A>T (p.Asp100Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436228]|Familial hypercholesterolemia [RCV000776496]|Hypercholesterolemia, familial, 1 [RCV000408769]|LDLR-related condition [RCV003401381]|not provided [RCV000786356] |
Chr19:11102772 [GRCh38]
Chr19:11213448 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.165C>G (p.Gly55=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402096]|Familial hypercholesterolemia [RCV000866978]|Hypercholesterolemia, familial, 1 [RCV000408777]|LDLR-related condition [RCV003970088]|not provided [RCV003114522] |
Chr19:11100320 [GRCh38]
Chr19:11210996 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1060+2T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV004022129]|Familial hypercholesterolemia [RCV001387173]|Homozygous familial hypercholesterolemia [RCV004017598]|Hypercholesterolemia, familial, 1 [RCV000408799] |
Chr19:11110773 [GRCh38]
Chr19:11221449 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.520G>T (p.Glu174Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348123]|Homozygous familial hypercholesterolemia [RCV004017597]|Hypercholesterolemia, familial, 1 [RCV000408802] |
Chr19:11105426 [GRCh38]
Chr19:11216102 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411268]|Familial hypercholesterolemia [RCV000816915]|Hypercholesterolemia, familial, 1 [RCV000408811]|not provided [RCV001770290] |
Chr19:11120114 [GRCh38]
Chr19:11230790 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002523840]|Hypercholesterolemia, familial, 1 [RCV000408823] |
Chr19:11113346 [GRCh38]
Chr19:11224022 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.428G>C (p.Cys143Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000408830] |
Chr19:11105334 [GRCh38]
Chr19:11216010 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.695-1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002365444]|Familial hypercholesterolemia [RCV001217127]|Hypercholesterolemia, familial, 1 [RCV000408837] |
Chr19:11106564 [GRCh38]
Chr19:11217240 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.68-1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000791397]|Hypercholesterolemia, familial, 1 [RCV000408842] |
Chr19:11100222 [GRCh38]
Chr19:11210898 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1878del (p.Ala627fs) |
deletion |
Cardiovascular phenotype [RCV002411271]|Familial hypercholesterolemia [RCV001861359]|Hypercholesterolemia, familial, 1 [RCV000408847]|not provided [RCV001731662] |
Chr19:11120123 [GRCh38]
Chr19:11230799 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.233del (p.Arg78fs) |
deletion |
Familial hypercholesterolemia [RCV002523841]|Homozygous familial hypercholesterolemia [RCV004017599]|Hypercholesterolemia, familial, 1 [RCV000408851] |
Chr19:11102706 [GRCh38]
Chr19:11213382 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1358+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV003168584]|Familial hypercholesterolemia [RCV001234476]|Hypercholesterolemia, familial, 1 [RCV000408853] |
Chr19:11113451 [GRCh38]
Chr19:11224127 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1911del (p.Asp638fs) |
deletion |
Cardiovascular phenotype [RCV002411270]|Familial hypercholesterolemia [RCV000586615]|Homozygous familial hypercholesterolemia [RCV000825596]|Hypercholesterolemia, familial, 1 [RCV000408859]|not provided [RCV000516597] |
Chr19:11120156 [GRCh38]
Chr19:11230832 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003766118]|Hypercholesterolemia, familial, 1 [RCV000408875] |
Chr19:11113584 [GRCh38]
Chr19:11224260 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429335]|Familial hypercholesterolemia [RCV002230212]|Hypercholesterolemia, familial, 1 [RCV000408876]|not provided [RCV002275000] |
Chr19:11111555 [GRCh38]
Chr19:11222231 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.820del (p.Thr274fs) |
deletion |
Cardiovascular phenotype [RCV002411269]|Familial hypercholesterolemia [RCV000775050]|Hypercholesterolemia, familial, 1 [RCV000408879]|not provided [RCV000598567] |
Chr19:11107394 [GRCh38]
Chr19:11218070 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000408888] |
Chr19:11089562..11089563 [GRCh38]
Chr19:11200238..11200239 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1060+9C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000953945]|Hypercholesterolemia, familial, 1 [RCV000408891] |
Chr19:11110780 [GRCh38]
Chr19:11221456 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.905del (p.Cys302fs) |
deletion |
Familial hypercholesterolemia [RCV001850943]|Hypercholesterolemia, familial, 1 [RCV000408896] |
Chr19:11107479 [GRCh38]
Chr19:11218155 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NC_000019.10:g.(?_11110652)_(11110771_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV003318757] |
Chr19:11110652..11110771 [GRCh38]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1585G>A (p.Gly529Ser) |
single nucleotide variant |
not provided [RCV003223807] |
Chr19:11113761 [GRCh38]
Chr19:11224437 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2400dup (p.Phe801fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000999556] |
Chr19:11129522..11129523 [GRCh38]
Chr19:11240198..11240199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741244]|Hypercholesterolemia, familial, 1 [RCV001000104]|not provided [RCV003229003] |
Chr19:11120227 [GRCh38]
Chr19:11230903 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.640T>C (p.Trp214Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001222149]|Hypercholesterolemia, familial, 1 [RCV001000105] |
Chr19:11105546 [GRCh38]
Chr19:11216222 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NC_000019.9:g.(?_11215876)_(11222335_?)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000531974] |
Chr19:11105200..11111659 [GRCh38]
Chr19:11215876..11222335 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.932_939delinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp) |
indel |
not provided [RCV000519981] |
Chr19:11107506..11107513 [GRCh38]
Chr19:11218182..11218189 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.460del (p.Gln154fs) |
deletion |
not provided [RCV000489998] |
Chr19:11105365 [GRCh38]
Chr19:11216041 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2097G>A (p.Pro699=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418871]|Familial hypercholesterolemia [RCV001278019]|Hypercholesterolemia, familial, 1 [RCV004004939] |
Chr19:11120479 [GRCh38]
Chr19:11231155 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*579G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000331221] |
Chr19:11131895 [GRCh38]
Chr19:11242571 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1831T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000315982] |
Chr19:11133147 [GRCh38]
Chr19:11243823 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*767G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000382531] |
Chr19:11132083 [GRCh38]
Chr19:11242759 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2365C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000332166] |
Chr19:11133681 [GRCh38]
Chr19:11244357 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2173T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000403060] |
Chr19:11133489 [GRCh38]
Chr19:11244165 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1931A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000293865] |
Chr19:11133247 [GRCh38]
Chr19:11243923 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1153G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000366655] |
Chr19:11132469 [GRCh38]
Chr19:11243145 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*942G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000403570] |
Chr19:11132258 [GRCh38]
Chr19:11242934 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1895A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000294843] |
Chr19:11133211 [GRCh38]
Chr19:11243887 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1917G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000385826] |
Chr19:11133233 [GRCh38]
Chr19:11243909 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*804G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000405549] |
Chr19:11132120 [GRCh38]
Chr19:11242796 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1256C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000321386] |
Chr19:11132572 [GRCh38]
Chr19:11243248 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1752G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000321488] |
Chr19:11133068 [GRCh38]
Chr19:11243744 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2366G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000389052] |
Chr19:11133682 [GRCh38]
Chr19:11244358 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1916A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000352231] |
Chr19:11133232 [GRCh38]
Chr19:11243908 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*979C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000353061] |
Chr19:11132295 [GRCh38]
Chr19:11242971 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2251G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000353141] |
Chr19:11133567 [GRCh38]
Chr19:11244243 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1131G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000370264] |
Chr19:11132447 [GRCh38]
Chr19:11243123 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*523G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000389342] |
Chr19:11131839 [GRCh38]
Chr19:11242515 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1858G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000372891] |
Chr19:11133174 [GRCh38]
Chr19:11243850 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000408813] |
Chr19:11077743..11093597 [GRCh38]
Chr19:11188452..11204306 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.*854G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000340377] |
Chr19:11132170 [GRCh38]
Chr19:11242846 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1356C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000311857] |
Chr19:11132672 [GRCh38]
Chr19:11243348 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*946C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000300637] |
Chr19:11132262 [GRCh38]
Chr19:11242938 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2212CA[4] |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000300722] |
Chr19:11133526..11133527 [GRCh38]
Chr19:11244202..11244203 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*376C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000300831] |
Chr19:11131692 [GRCh38]
Chr19:11242368 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2076dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000341902] |
Chr19:11133385..11133386 [GRCh38]
Chr19:11244061..11244062 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*169G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000395972] |
Chr19:11131485 [GRCh38]
Chr19:11242161 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*784C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000343160] |
Chr19:11132100 [GRCh38]
Chr19:11242776 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1609G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000361020] |
Chr19:11132925 [GRCh38]
Chr19:11243601 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001829627]|not provided [RCV000587603] |
Chr19:11123306 [GRCh38]
Chr19:11233982 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2140+12G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002529238]|Hypercholesterolemia, familial, 1 [RCV000582291] |
Chr19:11120534 [GRCh38]
Chr19:11231210 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.68-?_1586+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000627175] |
Chr19:11210898..11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438614]|Familial hypercholesterolemia [RCV001176527]|Hypercholesterolemia, familial, 1 [RCV000627183]|not provided [RCV001284635] |
Chr19:11110720 [GRCh38]
Chr19:11221396 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.2140+11C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581684]|Hypercholesterolemia, familial, 1 [RCV000584445] |
Chr19:11120533 [GRCh38]
Chr19:11231209 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2233_2291del (p.Pro745fs) |
deletion |
Cardiovascular phenotype [RCV004024879]|not provided [RCV000598937] |
Chr19:11123266..11123324 [GRCh38]
Chr19:11233942..11234000 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.781T>C (p.Cys261Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001216455]|not provided [RCV000588356] |
Chr19:11106651 [GRCh38]
Chr19:11217327 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1284C>T (p.Asn428=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384284]|Familial hypercholesterolemia [RCV001393933]|Hypercholesterolemia, familial, 1 [RCV004002419]|not specified [RCV000588383] |
Chr19:11113375 [GRCh38]
Chr19:11224051 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.150T>C (p.Ala50=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001494294]|Hypercholesterolemia, familial, 1 [RCV000582900] |
Chr19:11100305 [GRCh38]
Chr19:11210981 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11123164)_(11123354_?)del |
deletion |
Familial hypercholesterolemia [RCV000815902] |
Chr19:11123164..11123354 [GRCh38]
Chr19:11233840..11234030 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NC_000019.10:g.(?_11116074)_(11117018_?)del |
deletion |
Familial hypercholesterolemia [RCV000815914] |
Chr19:11116074..11117018 [GRCh38]
Chr19:11226750..11227694 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2048C>T (p.Pro683Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002232556]|not provided [RCV000587437] |
Chr19:11120430 [GRCh38]
Chr19:11231106 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1577C>A (p.Pro526His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002530906]|Hypercholesterolemia, familial, 1 [RCV002279959]|not provided [RCV000589406] |
Chr19:11113753 [GRCh38]
Chr19:11224429 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1808dup (p.Arg604fs) |
duplication |
Cardiovascular phenotype [RCV002413687]|not provided [RCV000599525] |
Chr19:11116957..11116958 [GRCh38]
Chr19:11227633..11227634 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1700C>A (p.Thr567Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV004024676]|not provided [RCV000589617] |
Chr19:11116207 [GRCh38]
Chr19:11226883 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1187-14C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003767338]|not provided [RCV000589889] |
Chr19:11113264 [GRCh38]
Chr19:11223940 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1186+2T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV000589074] |
Chr19:11111641 [GRCh38]
Chr19:11222317 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1586+16G>T |
single nucleotide variant |
not specified [RCV000605086] |
Chr19:11113778 [GRCh38]
Chr19:11224454 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+15C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002404583]|Familial hypercholesterolemia [RCV002529237]|Hypercholesterolemia, familial, 1 [RCV000581777]|LDLR-related condition [RCV003420018]|not specified [RCV001420868] |
Chr19:11113777 [GRCh38]
Chr19:11224453 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2358C>T (p.Ser786=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448812]|Familial hypercholesterolemia [RCV000866056]|Hypercholesterolemia, familial, 1 [RCV000583610]|LDLR-related condition [RCV003915669]|not provided [RCV001311165]|not specified [RCV001251356] |
Chr19:11128054 [GRCh38]
Chr19:11238730 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.330C>G (p.Ser110=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325163]|Hypercholesterolemia, familial, 1 [RCV000660725]|LDLR-related condition [RCV003892347]|not provided [RCV000983047]|not specified [RCV000600066] |
Chr19:11105236 [GRCh38]
Chr19:11215912 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384285]|Familial hypercholesterolemia [RCV001221284]|Hypercholesterolemia, familial, 1 [RCV002506400]|not provided [RCV000586847] |
Chr19:11113391 [GRCh38]
Chr19:11224067 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.267C>T (p.Cys89=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431740]|Familial hypercholesterolemia [RCV000775027]|Hypercholesterolemia, familial, 1 [RCV004002420]|not specified [RCV000586903] |
Chr19:11102740 [GRCh38]
Chr19:11213416 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.920A>G (p.Asp307Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001227018]|Hypercholesterolemia, familial, 1 [RCV000627179] |
Chr19:11107494 [GRCh38]
Chr19:11218170 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.954C>A (p.Cys318Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000627187] |
Chr19:11110665 [GRCh38]
Chr19:11221341 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000785982]|Hypercholesterolemia, familial, 1 [RCV000415650] |
Chr19:11131312 [GRCh38]
Chr19:11241988 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178126]|Hypercholesterolemia, familial, 1 [RCV000415715] |
Chr19:11129669 [GRCh38]
Chr19:11240345 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000412525] |
Chr19:19p13.2 |
pathogenic |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000412586] |
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402107]|Familial hypercholesterolemia [RCV001178326]|Hypercholesterolemia, familial, 1 [RCV000417321]|not provided [RCV003477910] |
Chr19:11116927 [GRCh38]
Chr19:11227603 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.463T>A (p.Cys155Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000505575] |
Chr19:11105369 [GRCh38]
Chr19:11216045 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2178C>T (p.Thr726=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429810]|Familial hypercholesterolemia [RCV001180635]|Hypercholesterolemia, familial, 1 [RCV004006675] |
Chr19:11123211 [GRCh38]
Chr19:11233887 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.683del (p.Glu228fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000505619] |
Chr19:11105589 [GRCh38]
Chr19:11216265 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001299282]|Hypercholesterolemia, familial, 1 [RCV002227157]|not provided [RCV000413896] |
Chr19:11113313 [GRCh38]
Chr19:11223989 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000505182] |
Chr19:11211022..11213339 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.768C>A (p.Asp256Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001293743]|Hypercholesterolemia, familial, 1 [RCV000505194] |
Chr19:11106638 [GRCh38]
Chr19:11217314 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1757C>A (p.Ser586Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000505199] |
Chr19:11116910 [GRCh38]
Chr19:11227586 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1739C>T (p.Ser580Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404318]|Familial hypercholesterolemia [RCV001053021]|Hypercholesterolemia, familial, 1 [RCV000505204] |
Chr19:11116892 [GRCh38]
Chr19:11227568 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1130G>T (p.Cys377Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323869]|Hypercholesterolemia, familial, 1 [RCV000505209] |
Chr19:11111583 [GRCh38]
Chr19:11222259 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1907G>T (p.Gly636Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000505212] |
Chr19:11120153 [GRCh38]
Chr19:11230829 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000505214] |
Chr19:11211022..11213339 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| Single allele |
duplication |
Hypercholesterolemia, familial, 1 [RCV000505219] |
Chr19:11211022..11213339 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV003159635]|Familial hypercholesterolemia [RCV003581672]|Hypercholesterolemia, familial, 1 [RCV000505222]|not provided [RCV001509013] |
Chr19:11116876 [GRCh38]
Chr19:11227552 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.1988-?_2140+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000505232] |
Chr19:11120370..11120522 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) |
deletion |
Cardiovascular phenotype [RCV003159636]|Familial hypercholesterolemia [RCV003581674]|Hypercholesterolemia, familial, 1 [RCV000505234]|LDLR-related condition [RCV003409715] |
Chr19:11129521..11129538 [GRCh38]
Chr19:11240197..11240214 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.105_110del (p.Asp36_Gly37del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000505238] |
Chr19:11100260..11100265 [GRCh38]
Chr19:11210936..11210941 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000505243] |
Chr19:11211022..11213339 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| Single allele |
duplication |
Hypercholesterolemia, familial, 1 [RCV000505246] |
Chr19:11211022..11213339 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000505253] |
Chr19:11200292..11210898 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) |
copy number gain |
See cases [RCV000446985] |
Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12 |
pathogenic |
| NM_000527.5(LDLR):c.706T>G (p.Cys236Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417291] |
Chr19:11106576 [GRCh38]
Chr19:11217252 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1186+5G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002328905]|Familial hypercholesterolemia [RCV001039422]|Hypercholesterolemia, familial, 1 [RCV000417292]|not provided [RCV000430561]|not specified [RCV000770757] |
Chr19:11111644 [GRCh38]
Chr19:11222320 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2078dup (p.Phe694fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417295] |
Chr19:11120458..11120459 [GRCh38]
Chr19:11231134..11231135 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.191T>A (p.Leu64Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581654]|Hypercholesterolemia, familial, 1 [RCV000417297] |
Chr19:11102664 [GRCh38]
Chr19:11213340 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.680_692del (p.Asp227fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417298] |
Chr19:11105583..11105595 [GRCh38]
Chr19:11216259..11216271 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417299] |
Chr19:11116891 [GRCh38]
Chr19:11227567 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.783C>A (p.Cys261Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417302] |
Chr19:11106653 [GRCh38]
Chr19:11217329 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.185C>G (p.Thr62Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417304] |
Chr19:11100340 [GRCh38]
Chr19:11211016 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.681del (p.Asp227fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417305] |
Chr19:11105587 [GRCh38]
Chr19:11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-99A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417306] |
Chr19:11089450 [GRCh38]
Chr19:11200126 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.940_940+14del |
deletion |
Familial hypercholesterolemia [RCV001387170]|Hypercholesterolemia, familial, 1 [RCV000417307] |
Chr19:11107510..11107524 [GRCh38]
Chr19:11218186..11218200 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417308] |
Chr19:11105289 [GRCh38]
Chr19:11215965 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-155_-150del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417311] |
Chr19:11089394..11089399 [GRCh38]
Chr19:11200070..11200075 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.985T>C (p.Cys329Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417313] |
Chr19:11110696 [GRCh38]
Chr19:11221372 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1971C>A (p.Asn657Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417314] |
Chr19:11120217 [GRCh38]
Chr19:11230893 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411283]|Familial hypercholesterolemia [RCV003226290]|Hypercholesterolemia, familial, 1 [RCV000417315]|not provided [RCV001764352] |
Chr19:11120099 [GRCh38]
Chr19:11230775 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001316970]|Hypercholesterolemia, familial, 1 [RCV000417317]|not specified [RCV001193791] |
Chr19:11116201 [GRCh38]
Chr19:11226877 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1988-2A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002418242]|Hypercholesterolemia, familial, 1 [RCV000417318] |
Chr19:11120368 [GRCh38]
Chr19:11231044 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001248957]|Hypercholesterolemia, familial, 1 [RCV000417325] |
Chr19:11129602 [GRCh38]
Chr19:11240278 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1705G>A (p.Asp569Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417328] |
Chr19:11116212 [GRCh38]
Chr19:11226888 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.683A>G (p.Glu228Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003766177]|Hypercholesterolemia, familial, 1 [RCV000417331] |
Chr19:11105589 [GRCh38]
Chr19:11216265 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.710G>A (p.Arg237His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775604]|Hypercholesterolemia, familial, 1 [RCV000417334]|not provided [RCV003477911] |
Chr19:11106580 [GRCh38]
Chr19:11217256 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.672C>A (p.Asp224Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417335] |
Chr19:11105578 [GRCh38]
Chr19:11216254 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.629T>C (p.Ile210Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417340] |
Chr19:11105535 [GRCh38]
Chr19:11216211 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.503A>C (p.Asp168Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417341] |
Chr19:11105409 [GRCh38]
Chr19:11216085 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2287dup (p.Glu763fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417342] |
Chr19:11123318..11123319 [GRCh38]
Chr19:11233994..11233995 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1315A>T (p.Asn439Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417344] |
Chr19:11113406 [GRCh38]
Chr19:11224082 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1205T>C (p.Phe402Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417345] |
Chr19:11113296 [GRCh38]
Chr19:11223972 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417346] |
Chr19:11100281 [GRCh38]
Chr19:11210957 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2068dup (p.His690fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417349] |
Chr19:11120445..11120446 [GRCh38]
Chr19:11231121..11231122 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1256A>G (p.Tyr419Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417351] |
Chr19:11113347 [GRCh38]
Chr19:11224023 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1571_1572del (p.Val524fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417352] |
Chr19:11113746..11113747 [GRCh38]
Chr19:11224422..11224423 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1135T>G (p.Cys379Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417353] |
Chr19:11111588 [GRCh38]
Chr19:11222264 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.202T>C (p.Cys68Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000791365]|Hypercholesterolemia, familial, 1 [RCV000417354] |
Chr19:11102675 [GRCh38]
Chr19:11213351 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177575]|Hypercholesterolemia, familial, 1 [RCV000417355] |
Chr19:11120507 [GRCh38]
Chr19:11231183 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1980_1983del (p.Pro661fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417358] |
Chr19:11120223..11120226 [GRCh38]
Chr19:11230899..11230902 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2402_2403del (p.Phe801fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417363] |
Chr19:11129525..11129526 [GRCh38]
Chr19:11240201..11240202 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.314-2A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417365] |
Chr19:11105218 [GRCh38]
Chr19:11215894 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1060+18C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581664]|not specified [RCV000443577] |
Chr19:11110789 [GRCh38]
Chr19:11221465 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs) |
deletion |
Familial hypercholesterolemia [RCV001851013]|Hypercholesterolemia, familial, 1 [RCV000417229] |
Chr19:11123326..11123333 [GRCh38]
Chr19:11234002..11234009 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2482dup (p.Tyr828fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417230] |
Chr19:11129604..11129605 [GRCh38]
Chr19:11240280..11240281 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.940+2T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417234] |
Chr19:11107516 [GRCh38]
Chr19:11218192 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.660_666dup (p.Lys223fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417235] |
Chr19:11105564..11105565 [GRCh38]
Chr19:11216240..11216241 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2085del (p.Cys696fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417239] |
Chr19:11120466 [GRCh38]
Chr19:11231142 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411282]|Familial hypercholesterolemia [RCV001049063]|Hypercholesterolemia, familial, 1 [RCV000417240]|not provided [RCV000996757] |
Chr19:11116883 [GRCh38]
Chr19:11227559 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.4(LDLR):c.-124dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417241] |
Chr19:11089422..11089423 [GRCh38]
Chr19:11200098..11200099 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.-168A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417242] |
Chr19:11089381 [GRCh38]
Chr19:11200057 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.924A>T (p.Glu308Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417243] |
Chr19:11107498 [GRCh38]
Chr19:11218174 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1478del (p.Ser493fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417246] |
Chr19:11113654 [GRCh38]
Chr19:11224330 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2346G>C (p.Lys782Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417247] |
Chr19:11128042 [GRCh38]
Chr19:11238718 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.673_674insTGCAA (p.Lys225fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000417248] |
Chr19:11105578..11105579 [GRCh38]
Chr19:11216254..11216255 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1529del (p.Thr510fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417249] |
Chr19:11113705 [GRCh38]
Chr19:11224381 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.377T>C (p.Phe126Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417250] |
Chr19:11105283 [GRCh38]
Chr19:11215959 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1187del |
deletion |
Familial hypercholesterolemia [RCV003581655]|Hypercholesterolemia, familial, 1 [RCV000417253] |
Chr19:11113277 [GRCh38]
Chr19:11223953 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1330del (p.Ser444fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417254] |
Chr19:11113421 [GRCh38]
Chr19:11224097 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417255] |
Chr19:11106652 [GRCh38]
Chr19:11217328 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2134dup (p.Leu712fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417262] |
Chr19:11120514..11120515 [GRCh38]
Chr19:11231190..11231191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1358+7G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003372702]|Familial hypercholesterolemia [RCV000862650]|Hypercholesterolemia, familial, 1 [RCV000417263] |
Chr19:11113456 [GRCh38]
Chr19:11224132 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.244_250dup (p.Pro84fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417264] |
Chr19:11102715..11102716 [GRCh38]
Chr19:11213391..11213392 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177670]|Hypercholesterolemia, familial, 1 [RCV000417266]|not specified [RCV003317205] |
Chr19:11102684 [GRCh38]
Chr19:11213360 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.53C>T (p.Ala18Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417268] |
Chr19:11089601 [GRCh38]
Chr19:11200277 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417270] |
Chr19:11120228 [GRCh38]
Chr19:11230904 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.664_681del (p.Cys222_Asp227del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417271] |
Chr19:11105567..11105584 [GRCh38]
Chr19:11216243..11216260 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.666_682dup (p.Glu228fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417272] |
Chr19:11105570..11105571 [GRCh38]
Chr19:11216246..11216247 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.940+1dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000417274] |
Chr19:11107513..11107514 [GRCh38]
Chr19:11218189..11218190 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.442_504del (p.Cys148_Asp168del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417276] |
Chr19:11105347..11105409 [GRCh38]
Chr19:11216023..11216085 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1773_1774delinsT (p.Gly593fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000417277] |
Chr19:11116926..11116927 [GRCh38]
Chr19:11227602..11227603 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.610T>G (p.Cys204Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417279] |
Chr19:11105516 [GRCh38]
Chr19:11216192 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.743G>C (p.Cys248Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417281] |
Chr19:11106613 [GRCh38]
Chr19:11217289 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.967G>T (p.Gly323Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417282] |
Chr19:11110678 [GRCh38]
Chr19:11221354 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.674_683del (p.Lys225fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000417283] |
Chr19:11105579..11105588 [GRCh38]
Chr19:11216255..11216264 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2056C>G (p.Gln686Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000417286] |
Chr19:11120438 [GRCh38]
Chr19:11231114 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775613]|Hypercholesterolemia, familial, 1 [RCV000417287]|not provided [RCV001536350]|not specified [RCV001192515] |
Chr19:11123239 [GRCh38]
Chr19:11233915 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.327C>A (p.Cys109Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002521502]|Hypercholesterolemia, familial, 1 [RCV000417289] |
Chr19:11105233 [GRCh38]
Chr19:11215909 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2388C>T (p.Ile796=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451092]|Familial hypercholesterolemia [RCV001182970]|Hypercholesterolemia, familial, 1 [RCV000462919]|not specified [RCV000780381] |
Chr19:11128084 [GRCh38]
Chr19:11238760 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2389+8C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775617]|Hypercholesterolemia, familial, 1 [RCV001726182] |
Chr19:11128093 [GRCh38]
Chr19:11238769 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|uncertain significance |
| NM_000527.5(LDLR):c.948C>T (p.Asn316=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374836]|Familial hypercholesterolemia [RCV000470335]|Hypercholesterolemia, familial, 1 [RCV004002111] |
Chr19:11110659 [GRCh38]
Chr19:11221335 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1065C>G (p.Ile355Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581666]|Hypercholesterolemia, familial, 1 [RCV000454469] |
Chr19:11111518 [GRCh38]
Chr19:11222194 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1272del (p.Asn425fs) |
deletion |
Familial hypercholesterolemia [RCV002230769] |
Chr19:11113360 [GRCh38]
Chr19:11224036 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1187-10_1272dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000454414] |
Chr19:11113262..11113263 [GRCh38]
Chr19:11223938..11223939 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000454525] |
|
pathogenic |
| NM_000527.5(LDLR):c.300C>A (p.Asp100Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000454527]|not provided [RCV002223839] |
Chr19:11102773 [GRCh38]
Chr19:11213449 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1595A>G (p.Tyr532Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001057487]|Hypercholesterolemia, familial, 1 [RCV000454550] |
Chr19:11116102 [GRCh38]
Chr19:11226778 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.(2311+1_2312-1)_(2547+1_2548-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000454585] |
|
pathogenic |
| NM_000527.5(LDLR):c.383G>C (p.Cys128Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000454616] |
Chr19:11105289 [GRCh38]
Chr19:11215965 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.(?_-1)_(1845+1_1846-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000454710] |
|
pathogenic |
| NM_000527.5(LDLR):c.1177A>C (p.Lys393Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000454806] |
Chr19:11111630 [GRCh38]
Chr19:11222306 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.(67+1_68-1)_(1586+1_1587-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000454810] |
|
pathogenic |
| NM_000527.4(LDLR):c.(940+1_941-1)_(1586+1_1587-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000454923] |
|
pathogenic |
| NM_000527.4(LDLR):c.(1845+1_1846-1)_(*_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000454939] |
|
pathogenic |
| NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV003168718]|Familial hypercholesterolemia [RCV001178333]|Hypercholesterolemia, familial, 1 [RCV000454979] |
Chr19:11128016 [GRCh38]
Chr19:11238692 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) |
duplication |
Cardiovascular phenotype [RCV002429465]|Familial hypercholesterolemia [RCV000800880]|Hypercholesterolemia, familial, 1 [RCV000454988] |
Chr19:11123211..11123212 [GRCh38]
Chr19:11233887..11233888 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001192331]|Hypercholesterolemia, familial, 1 [RCV000455095] |
Chr19:11120454 [GRCh38]
Chr19:11231130 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.-140C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000455110] |
Chr19:11089409 [GRCh38]
Chr19:11200085 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2407T>C (p.Cys803Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000455120] |
Chr19:11129530 [GRCh38]
Chr19:11240206 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1632_1633del (p.Gly546fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000455154] |
Chr19:11116139..11116140 [GRCh38]
Chr19:11226815..11226816 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.(?_-1)_(67+1_68-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000455188] |
|
pathogenic |
| NM_000527.4(LDLR):c.(2389+1_2390-1)_(*_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000455221] |
|
pathogenic |
| NM_000527.5(LDLR):c.1358+5G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000455239] |
Chr19:11113454 [GRCh38]
Chr19:11224130 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1184_1185del (p.Val395fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000455355] |
Chr19:11111635..11111636 [GRCh38]
Chr19:11222311..11222312 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.(313+1_314-1)_(1586+1_1587-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000455421] |
|
pathogenic |
| NM_000527.5(LDLR):c.2253_2256dup (p.Pro753fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000455524] |
Chr19:11123284..11123285 [GRCh38]
Chr19:11233960..11233961 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.(940+1_941-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000455577] |
|
pathogenic |
| NM_000527.5(LDLR):c.981C>A (p.His327Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000455675]|not provided [RCV003418148] |
Chr19:11110692 [GRCh38]
Chr19:11221368 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1741A>T (p.Lys581Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000455807] |
Chr19:11116894 [GRCh38]
Chr19:11227570 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1112T>C (p.Leu371Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436373]|Hypercholesterolemia, familial, 1 [RCV000455825] |
Chr19:11111565 [GRCh38]
Chr19:11222241 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.681C>A (p.Asp227Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365580]|Familial hypercholesterolemia [RCV003581665]|Hypercholesterolemia, familial, 1 [RCV000455843]|not provided [RCV002248667] |
Chr19:11105587 [GRCh38]
Chr19:11216263 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.4(LDLR):c.(67+1_68-1)_(2311+1_2312-1)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000455848] |
|
pathogenic |
| NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179533]|Hypercholesterolemia, familial, 1 [RCV000455904] |
Chr19:11105416 [GRCh38]
Chr19:11216092 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.529T>C (p.Ser177Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000455946] |
Chr19:11105435 [GRCh38]
Chr19:11216111 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.(940+1_941-1)_(1186+1_1187-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000455957] |
|
pathogenic |
| NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002526380]|Hypercholesterolemia, familial, 1 [RCV000455987] |
Chr19:11120441 [GRCh38]
Chr19:11231117 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1204_1205del (p.Phe402fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000455989] |
Chr19:11113295..11113296 [GRCh38]
Chr19:11223971..11223972 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.(1586+1_1587-1)_(2547+1_2548-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000456003] |
|
pathogenic |
| NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000456010] |
|
pathogenic |
| NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del) |
deletion |
Cardiovascular phenotype [RCV002365581]|Familial hypercholesterolemia [RCV002230305]|Hypercholesterolemia, familial, 1 [RCV000454717] |
Chr19:11105587..11105598 [GRCh38]
Chr19:11216263..11216274 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.4(LDLR):c.941-?_1060+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000459722] |
Chr19:11110652..11110771 [GRCh38]
Chr19:11221328..11221447 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1358+32C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001080540]|Hypercholesterolemia, familial, 1 [RCV000467166] |
Chr19:11113481 [GRCh38]
Chr19:11224157 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.313+3A>C |
single nucleotide variant |
LDLR-related condition [RCV003401521]|not provided [RCV000482458] |
Chr19:11102789 [GRCh38]
Chr19:11213465 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000467552]|Hypercholesterolemia, familial, 1 [RCV001450035] |
Chr19:11116884 [GRCh38]
Chr19:11227560 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2001del (p.Cys667fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000471150] |
Chr19:11120383 [GRCh38]
Chr19:11231059 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.554delG (p.Gly186Valfs) |
deletion |
Familial hypercholesterolemia [RCV000477927] |
Chr19:11105460 [GRCh38]
Chr19:11216136 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1336C>A (p.Leu446Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000464441]|Hypercholesterolemia, familial, 1 [RCV004000728] |
Chr19:11113427 [GRCh38]
Chr19:11224103 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001275277]|Hypercholesterolemia, familial, 1 [RCV000464677] |
Chr19:11111628 [GRCh38]
Chr19:11222304 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000019.9:g.(?_11230768)_(11240346_?)dup |
duplication |
Homozygous familial hypercholesterolemia [RCV000826176]|Hypercholesterolemia, familial, 1 [RCV000475916] |
Chr19:11120092..11129670 [GRCh38]
Chr19:11230768..11240346 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1562C>T (p.Ala521Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000475963] |
Chr19:11113738 [GRCh38]
Chr19:11224414 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) |
indel |
Cardiovascular phenotype [RCV002367651]|Familial hypercholesterolemia [RCV001193785]|not provided [RCV000484687] |
Chr19:11105586..11105588 [GRCh38]
Chr19:11216262..11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2514T>A (p.Ile838=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183888] |
Chr19:11129637 [GRCh38]
Chr19:11240313 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1439C>T (p.Ala480Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001068840]|not provided [RCV000485078] |
Chr19:11113615 [GRCh38]
Chr19:11224291 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.270T>C (p.Asp90=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429582]|Familial hypercholesterolemia [RCV001182219]|Hypercholesterolemia, familial, 1 [RCV004002108]|not provided [RCV000461453]|not specified [RCV001269166] |
Chr19:11102743 [GRCh38]
Chr19:11213419 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1987G>A (p.Gly663Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002230768] |
Chr19:11120233 [GRCh38]
Chr19:11230909 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11113278)_(11133830_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000469198] |
Chr19:11113278..11133830 [GRCh38]
Chr19:11223954..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.1846-?_2311+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000476635] |
Chr19:11120092..11123344 [GRCh38]
Chr19:11230768..11234020 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1706-1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003139679]|not provided [RCV000486061] |
Chr19:11116858 [GRCh38]
Chr19:11227534 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.336C>T (p.Asp112=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002455861]|Familial hypercholesterolemia [RCV000461939]|Hypercholesterolemia, familial, 1 [RCV004002109] |
Chr19:11105242 [GRCh38]
Chr19:11215918 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11129513)_(11133830_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000461978] |
Chr19:11129513..11133830 [GRCh38]
Chr19:11240189..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1239G>A (p.Thr413=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374835]|Familial hypercholesterolemia [RCV000477036]|Hypercholesterolemia, familial, 1 [RCV004002110]|not specified [RCV000589899] |
Chr19:11113330 [GRCh38]
Chr19:11224006 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1056C>T (p.Cys352=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402326]|Familial hypercholesterolemia [RCV001082978]|Hypercholesterolemia, familial, 1 [RCV000462425]|not provided [RCV000858795]|not specified [RCV000780374] |
Chr19:11110767 [GRCh38]
Chr19:11221443 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.1706-?_2311+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509085] |
Chr19:11227535..11234020 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
duplication |
Hypercholesterolemia, familial, 1 [RCV000509098] |
Chr19:11200195..11213462 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.1846-?_1987+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509101] |
Chr19:11230767..11230909 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509145] |
Chr19:11215895..11241992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.941-?_1705+?dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000509152] |
Chr19:11221327..11226888 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.941-?_1186+?del |
deletion |
Familial hypercholesterolemia 1 [RCV000509155]|Familial hypercholesterolemia [RCV000509155] |
Chr19:11221327..11222316 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.1187-?_1845+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509190] |
Chr19:11223954..11227674 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509204] |
Chr19:11213340..11241992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.1359-?_1586+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509288] |
Chr19:11224211..11224438 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509291] |
Chr19:11241957..11241992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.818-?_940+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509300] |
Chr19:11218068..11218190 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.941-?_1845+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509341] |
Chr19:11221327..11227674 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509345] |
Chr19:11240189..11241992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.1061-?_1586+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509354] |
Chr19:11222190..11224438 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.1846-?_2140+?del |
deletion |
Familial hypercholesterolemia [RCV000509387] |
Chr19:11230767..11231199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.(1705+1_1706-1)_(2140+1_2141-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000498176] |
Chr19:11227535..11231415 [GRCh38]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.1706-?_1845+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509438] |
Chr19:11227535..11227675 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
duplication |
Hypercholesterolemia, familial, 1 [RCV000509444] |
Chr19:11200195..11211021 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.1587-?_2311+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509455] |
Chr19:11226769..11234020 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.191-?_313+?dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000509489] |
Chr19:11213340..11213462 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.941-?_1586+?dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000509500] |
Chr19:11221327..11224438 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.314-?_940+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509511] |
Chr19:11215895..11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.941-?_1845+?dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000509545] |
Chr19:11221327..11227674 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2279C>T (p.Thr760Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509086] |
Chr19:11123312 [GRCh38]
Chr19:11233988 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.140_153del (p.Asp47fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509087] |
Chr19:11100294..11100307 [GRCh38]
Chr19:11210970..11210983 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.987C>G (p.Cys329Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509097] |
Chr19:11110698 [GRCh38]
Chr19:11221374 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.817+2T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509104] |
Chr19:11106689 [GRCh38]
Chr19:11217365 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11200038)_(11200291_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000498697] |
Chr19:11200038..11200291 [GRCh38]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181308]|Hypercholesterolemia, familial, 1 [RCV000497018] |
Chr19:11120188 [GRCh38]
Chr19:11230864 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2548-23C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497047] |
Chr19:11131258 [GRCh38]
Chr19:11241934 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.2312-?_2389+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497064] |
Chr19:11238684..11238761 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.542C>T (p.Pro181Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497065]|not provided [RCV003321637] |
Chr19:11105448 [GRCh38]
Chr19:11216124 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1359-6C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189132]|Hypercholesterolemia, familial, 1 [RCV000497075]|not provided [RCV001575765] |
Chr19:11113529 [GRCh38]
Chr19:11224205 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.2141-?_2389+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497077] |
Chr19:11233850..11239475 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1586+16G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002404300]|Familial hypercholesterolemia [RCV000771247]|Hypercholesterolemia, familial, 1 [RCV000497079] |
Chr19:11113778 [GRCh38]
Chr19:11224454 [GRCh37]
Chr19:19p13.2 |
benign|uncertain significance |
| NM_000527.4(LDLR):c.695-?_817+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497082] |
Chr19:11217241..11217363 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.191-?_940+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497087] |
Chr19:11213340..11218190 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2133C>G (p.Cys711Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497097] |
Chr19:11120515 [GRCh38]
Chr19:11231191 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1358+10G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001478497]|Hypercholesterolemia, familial, 1 [RCV000497098]|not specified [RCV001805115] |
Chr19:11113459 [GRCh38]
Chr19:11224135 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002230972]|Hypercholesterolemia, familial, 1 [RCV000497106] |
Chr19:11116953 [GRCh38]
Chr19:11227629 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.67+1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581669]|Homozygous familial hypercholesterolemia [RCV004017650]|Hypercholesterolemia, familial, 1 [RCV000497129] |
Chr19:11089616 [GRCh38]
Chr19:11200292 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.4(LDLR):c.941-?_1586+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497136] |
Chr19:11221327..11224438 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356812]|Hypercholesterolemia, familial, 1 [RCV000497141] |
Chr19:11113315 [GRCh38]
Chr19:11223991 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2548-19G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002056826]|Hypercholesterolemia, familial, 1 [RCV000497142]|not specified [RCV000615749] |
Chr19:11131262 [GRCh38]
Chr19:11241938 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.2312-?_2547+?del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497157] |
Chr19:11238684..11240346 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.4(LDLR):c.-187-?_940+?dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000497172] |
Chr19:11200038..11219759 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.817+9T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002431444]|Familial hypercholesterolemia [RCV000776526]|Hypercholesterolemia, familial, 1 [RCV000497177]|LDLR-related condition [RCV003902747] |
Chr19:11106696 [GRCh38]
Chr19:11217372 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2389+47G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497181] |
Chr19:11128132 [GRCh38]
Chr19:11238808 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1210A>T (p.Thr404Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497202] |
Chr19:11113301 [GRCh38]
Chr19:11223977 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.871A>C (p.Thr291Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775605]|Hypercholesterolemia, familial, 1 [RCV000497207]|not specified [RCV003323571] |
Chr19:11107445 [GRCh38]
Chr19:11218121 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.919G>T (p.Asp307Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509131] |
Chr19:11107493 [GRCh38]
Chr19:11218169 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1013G>T (p.Cys338Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509140] |
Chr19:11110724 [GRCh38]
Chr19:11221400 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2086T>C (p.Cys696Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509164] |
Chr19:11120468 [GRCh38]
Chr19:11231144 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1587-5_1618del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509166] |
Chr19:11116089..11116125 [GRCh38]
Chr19:11226765..11226801 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000803444]|Hypercholesterolemia, familial, 1 [RCV000509176] |
Chr19:11116910 [GRCh38]
Chr19:11227586 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.682delinsTCAAGGAAACCCGACTGCA (p.Glu228delinsSerArgLysProAspCysLys) |
indel |
Hypercholesterolemia, familial, 1 [RCV000509177] |
Chr19:11105588 [GRCh38]
Chr19:11216264 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.671_675del (p.Asp224fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509197] |
Chr19:11105577..11105581 [GRCh38]
Chr19:11216253..11216257 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.866G>A (p.Cys289Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509206] |
Chr19:11107440 [GRCh38]
Chr19:11218116 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2011del (p.Thr671fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509219] |
Chr19:11120393 [GRCh38]
Chr19:11231069 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.91_104del (p.Glu31fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509220] |
Chr19:11100246..11100259 [GRCh38]
Chr19:11210922..11210935 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2282_2309del (p.Thr761fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509225] |
Chr19:11123308..11123335 [GRCh38]
Chr19:11233984..11234011 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1705+1del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509237] |
Chr19:11116212 [GRCh38]
Chr19:11226888 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.362_376del (p.Cys121_Gln125del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000509240] |
Chr19:11105265..11105279 [GRCh38]
Chr19:11215941..11215955 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.470G>A (p.Ser157Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509276] |
Chr19:11105376 [GRCh38]
Chr19:11216052 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.835C>T (p.Pro279Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509277] |
Chr19:11107409 [GRCh38]
Chr19:11218085 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.118A>G (p.Ile40Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180282]|Hypercholesterolemia, familial, 1 [RCV000509299] |
Chr19:11100273 [GRCh38]
Chr19:11210949 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.928dup (p.Ile310fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000509323] |
Chr19:11107501..11107502 [GRCh38]
Chr19:11218177..11218178 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-228G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001856994]|Hypercholesterolemia, familial, 1 [RCV000497220] |
Chr19:11089321 [GRCh38]
Chr19:11199997 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.245G>C (p.Cys82Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497224] |
Chr19:11102718 [GRCh38]
Chr19:11213394 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001851367]|Hypercholesterolemia, familial, 1 [RCV000497225] |
Chr19:11113753 [GRCh38]
Chr19:11224429 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2140+30G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497230] |
Chr19:11120552 [GRCh38]
Chr19:11231228 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1069G>C (p.Glu357Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497231] |
Chr19:11111522 [GRCh38]
Chr19:11222198 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1586+12C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002527130]|Hypercholesterolemia, familial, 1 [RCV000497238]|not specified [RCV001193788] |
Chr19:11113774 [GRCh38]
Chr19:11224450 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.2312C>T (p.Ala771Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178331]|Hypercholesterolemia, familial, 1 [RCV000497247]|not specified [RCV001805116] |
Chr19:11128008 [GRCh38]
Chr19:11238684 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1596C>G (p.Tyr532Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509356] |
Chr19:11116103 [GRCh38]
Chr19:11226779 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1765G>T (p.Asp589Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509363] |
Chr19:11116918 [GRCh38]
Chr19:11227594 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.890A>C (p.Asn297Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509379] |
Chr19:11107464 [GRCh38]
Chr19:11218140 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1749C>G (p.His583Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509386] |
Chr19:11116902 [GRCh38]
Chr19:11227578 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2054C>A (p.Pro685Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509393] |
Chr19:11120436 [GRCh38]
Chr19:11231112 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.706T>A (p.Cys236Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857296]|Hypercholesterolemia, familial, 1 [RCV000509412] |
Chr19:11106576 [GRCh38]
Chr19:11217252 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.131G>T (p.Trp44Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509435] |
Chr19:11100286 [GRCh38]
Chr19:11210962 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.440_450dup (p.Ala151fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000509442] |
Chr19:11105345..11105346 [GRCh38]
Chr19:11216021..11216022 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.987C>A (p.Cys329Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509447] |
Chr19:11110698 [GRCh38]
Chr19:11221374 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del) |
deletion |
Familial hypercholesterolemia [RCV001857295]|Hypercholesterolemia, familial, 1 [RCV000509465] |
Chr19:11105574..11105588 [GRCh38]
Chr19:11216250..11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1046dup (p.Arg350fs) |
duplication |
Cardiovascular phenotype [RCV003302747]|Hypercholesterolemia, familial, 1 [RCV000509468] |
Chr19:11110756..11110757 [GRCh38]
Chr19:11221432..11221433 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.479G>T (p.Cys160Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341198]|Hypercholesterolemia, familial, 1 [RCV000509474] |
Chr19:11105385 [GRCh38]
Chr19:11216061 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Early-onset coronary artery disease [RCV000588649]|Hypercholesterolemia, familial, 1 [RCV000509477] |
Chr19:11089550 [GRCh38]
Chr19:11200226 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1359-27T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509487] |
Chr19:11113508 [GRCh38]
Chr19:11224184 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420291]|Familial hypercholesterolemia [RCV001805127]|Hypercholesterolemia, familial, 1 [RCV000509512] |
Chr19:11120227 [GRCh38]
Chr19:11230903 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.681_682insTCAGGGAAACCCGACTGC (p.Asp227_Glu228insSerGlyLysProAspCys) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000509513] |
Chr19:11105586..11105587 [GRCh38]
Chr19:11216262..11216263 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.890A>G (p.Asn297Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509519] |
Chr19:11107464 [GRCh38]
Chr19:11218140 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.67+1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000509520] |
Chr19:11089616 [GRCh38]
Chr19:11200292 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497022] |
Chr19:11123217 [GRCh38]
Chr19:11233893 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001856995]|Hypercholesterolemia, familial, 1 [RCV000497031] |
Chr19:11123344 [GRCh38]
Chr19:11234020 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1036C>G (p.Leu346Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497037] |
Chr19:11110747 [GRCh38]
Chr19:11221423 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1158_1162dup (p.His388fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000497040] |
Chr19:11111610..11111611 [GRCh38]
Chr19:11222286..11222287 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2368_2369dup (p.Ser791fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000497043] |
Chr19:11128061..11128062 [GRCh38]
Chr19:11238737..11238738 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1804G>T (p.Glu602Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497050] |
Chr19:11116957 [GRCh38]
Chr19:11227633 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1885_1886insA (p.Phe629fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000497101] |
Chr19:11120131..11120132 [GRCh38]
Chr19:11230807..11230808 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1162dup (p.His388fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000497103] |
Chr19:11111610..11111611 [GRCh38]
Chr19:11222286..11222287 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.479_480delinsTT (p.Cys160Phe) |
indel |
Hypercholesterolemia, familial, 1 [RCV000497104] |
Chr19:11105385..11105386 [GRCh38]
Chr19:11216061..11216062 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1474del (p.Asp492fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497117] |
Chr19:11113650 [GRCh38]
Chr19:11224326 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1673_1676del (p.Glu558fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497126] |
Chr19:11116180..11116183 [GRCh38]
Chr19:11226856..11226859 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2376del (p.Ile792fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497139] |
Chr19:11128071 [GRCh38]
Chr19:11238747 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1269C>G (p.Ile423Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV004023324]|Hypercholesterolemia, familial, 1 [RCV000497147]|not provided [RCV001770378] |
Chr19:11113360 [GRCh38]
Chr19:11224036 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1009_1014del (p.Glu337_Cys338del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497150] |
Chr19:11110719..11110724 [GRCh38]
Chr19:11221395..11221400 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1573_1586+5del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000497152] |
Chr19:11113748..11113766 [GRCh38]
Chr19:11224424..11224442 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2141-2A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497164] |
Chr19:11123172 [GRCh38]
Chr19:11233848 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.487C>T (p.Gln163Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497193] |
Chr19:11105393 [GRCh38]
Chr19:11216069 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2249C>T (p.Ser750Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497201] |
Chr19:11123282 [GRCh38]
Chr19:11233958 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1565T>G (p.Ile522Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497212] |
Chr19:11113741 [GRCh38]
Chr19:11224417 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.949dup (p.Glu317fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000497222] |
Chr19:11110659..11110660 [GRCh38]
Chr19:11221335..11221336 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000497246]|not specified [RCV002248727] |
Chr19:11131293 [GRCh38]
Chr19:11241969 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2549_2550del |
microsatellite |
Familial hypercholesterolemia [RCV001834610]|not provided [RCV000498562] |
Chr19:11131279..11131280 [GRCh38]
Chr19:11241955..11241956 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1540G>T (p.Glu514Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001851374]|not provided [RCV000498619] |
Chr19:11113716 [GRCh38]
Chr19:11224392 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.865T>G (p.Cys289Gly) |
single nucleotide variant |
not provided [RCV000493555] |
Chr19:11107439 [GRCh38]
Chr19:11218115 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.-187_-185del |
microsatellite |
Familial hypercholesterolemia [RCV001360067]|Hypercholesterolemia, familial, 1 [RCV000505217] |
Chr19:11089356..11089358 [GRCh38]
Chr19:11200032..11200034 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.644G>A (p.Arg215His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508690] |
Chr19:11105550 [GRCh38]
Chr19:11216226 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1706-55A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508692] |
Chr19:11116804 [GRCh38]
Chr19:11227480 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.345C>T (p.Arg115=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508693] |
Chr19:11105251 [GRCh38]
Chr19:11215927 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001034671]|Hypercholesterolemia, familial, 1 [RCV000508695] |
Chr19:11113625 [GRCh38]
Chr19:11224301 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.911A>T (p.Asp304Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508698] |
Chr19:11107485 [GRCh38]
Chr19:11218161 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.363C>G (p.Cys121Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508699] |
Chr19:11105269 [GRCh38]
Chr19:11215945 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1092C>T (p.Cys364=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581675]|Hypercholesterolemia, familial, 1 [RCV000508702] |
Chr19:11111545 [GRCh38]
Chr19:11222221 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.378del (p.Phe126fs) |
deletion |
Cardiovascular phenotype [RCV002367700]|Familial hypercholesterolemia [RCV001235875]|Hypercholesterolemia, familial, 1 [RCV000508704] |
Chr19:11105284 [GRCh38]
Chr19:11215960 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1393del (p.Tyr465fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508705] |
Chr19:11113569 [GRCh38]
Chr19:11224245 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.108C>T (p.Asp36=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446987]|Familial hypercholesterolemia [RCV001181332]|Hypercholesterolemia, familial, 1 [RCV000508706]|not specified [RCV001201281] |
Chr19:11100263 [GRCh38]
Chr19:11210939 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1521G>C (p.Lys507Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508709] |
Chr19:11113697 [GRCh38]
Chr19:11224373 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2394_2401del (p.Leu799fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508710] |
Chr19:11129515..11129522 [GRCh38]
Chr19:11240191..11240198 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1937T>A (p.Leu646Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508712] |
Chr19:11120183 [GRCh38]
Chr19:11230859 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.263G>A (p.Arg88Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508713] |
Chr19:11102736 [GRCh38]
Chr19:11213412 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.948del (p.Asn316fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508714] |
Chr19:11110659 [GRCh38]
Chr19:11221335 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.586C>A (p.Pro196Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508716] |
Chr19:11105492 [GRCh38]
Chr19:11216168 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001192332]|Hypercholesterolemia, familial, 1 [RCV000508717] |
Chr19:11120471 [GRCh38]
Chr19:11231147 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.172G>T (p.Glu58Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002527376]|Hypercholesterolemia, familial, 1 [RCV000508720]|not provided [RCV000985764] |
Chr19:11100327 [GRCh38]
Chr19:11211003 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.682_683insGACAAATCTGAG (p.Glu228delinsGlyGlnIleTer) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000508721] |
Chr19:11105587..11105588 [GRCh38]
Chr19:11216263..11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1061-8T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508723] |
Chr19:11111506 [GRCh38]
Chr19:11222182 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.2253G>A (p.Arg751=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508724] |
Chr19:11123286 [GRCh38]
Chr19:11233962 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.269A>C (p.Asp90Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431468]|Hypercholesterolemia, familial, 1 [RCV000508725] |
Chr19:11102742 [GRCh38]
Chr19:11213418 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.669_676del (p.Lys223fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508727] |
Chr19:11105575..11105582 [GRCh38]
Chr19:11216251..11216258 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.324G>A (p.Thr108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323875]|Familial hypercholesterolemia [RCV001185504]|Hypercholesterolemia, familial, 1 [RCV000508729] |
Chr19:11105230 [GRCh38]
Chr19:11215906 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2263del (p.Ala755fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508730] |
Chr19:11123293 [GRCh38]
Chr19:11233969 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1571_1586+3dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000508732] |
Chr19:11113745..11113746 [GRCh38]
Chr19:11224421..11224422 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1753del (p.Ile585fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508734] |
Chr19:11116906 [GRCh38]
Chr19:11227582 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.612C>A (p.Cys204Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508736] |
Chr19:11105518 [GRCh38]
Chr19:11216194 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001865663]|Hypercholesterolemia, familial, 1 [RCV000508739] |
Chr19:11116955 [GRCh38]
Chr19:11227631 [GRCh37]
Chr19:19p13.2 |
benign|uncertain significance |
| NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508740] |
Chr19:11100223..11100345 [GRCh38]
Chr19:11210899..11211021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1195G>T (p.Ala399Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508741] |
Chr19:11113286 [GRCh38]
Chr19:11223962 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.531G>A (p.Ser177=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350129]|Familial hypercholesterolemia [RCV001080091]|Hypercholesterolemia, familial, 1 [RCV000508745] |
Chr19:11105437 [GRCh38]
Chr19:11216113 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.4(LDLR):c.-193_-187delinsTG |
indel |
Hypercholesterolemia, familial, 1 [RCV000508746] |
Chr19:11089356..11089362 [GRCh38]
Chr19:11200032..11200038 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1863A>C (p.Thr621=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413395]|Hypercholesterolemia, familial, 1 [RCV000508747] |
Chr19:11120109 [GRCh38]
Chr19:11230785 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2050_2063delinsC (p.Ala684fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000508750] |
Chr19:11120432..11120445 [GRCh38]
Chr19:11231108..11231121 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-172G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524406]|Hypercholesterolemia, familial, 1 [RCV000508753] |
Chr19:11089377 [GRCh38]
Chr19:11200053 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.662_681dup (p.Glu228fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000508754] |
Chr19:11105567..11105568 [GRCh38]
Chr19:11216243..11216244 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383987]|Familial hypercholesterolemia [RCV001187125]|Hypercholesterolemia, familial, 1 [RCV000508755]|not provided [RCV002223219] |
Chr19:11106601 [GRCh38]
Chr19:11217277 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2413G>C (p.Gly805Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581678]|Hypercholesterolemia, familial, 1 [RCV000508758] |
Chr19:11129536 [GRCh38]
Chr19:11240212 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.402C>T (p.Cys134=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001483001]|Hypercholesterolemia, familial, 1 [RCV000508760] |
Chr19:11105308 [GRCh38]
Chr19:11215984 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1836C>A (p.Ala612=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413394]|Familial hypercholesterolemia [RCV001188069]|Hypercholesterolemia, familial, 1 [RCV000508762]|not specified [RCV003330735] |
Chr19:11116989 [GRCh38]
Chr19:11227665 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1620dup (p.Lys541fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000508764] |
Chr19:11116125..11116126 [GRCh38]
Chr19:11226801..11226802 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2427A>G (p.Leu809=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002455983]|Familial hypercholesterolemia [RCV000862917]|Hypercholesterolemia, familial, 1 [RCV000508765] |
Chr19:11129550 [GRCh38]
Chr19:11240226 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.482T>C (p.Ile161Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508766] |
Chr19:11105388 [GRCh38]
Chr19:11216064 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358394]|Hypercholesterolemia, familial, 1 [RCV000508767] |
Chr19:11111607 [GRCh38]
Chr19:11222283 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1070del (p.Glu357fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508768] |
Chr19:11111523 [GRCh38]
Chr19:11222199 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508770] |
Chr19:11113609 [GRCh38]
Chr19:11224285 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1987+47G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508773] |
Chr19:11120280 [GRCh38]
Chr19:11230956 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1342C>A (p.Gln448Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508775] |
Chr19:11113433 [GRCh38]
Chr19:11224109 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.426C>A (p.Ser142=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508776] |
Chr19:11105332 [GRCh38]
Chr19:11216008 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1186+106G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508778] |
Chr19:11111745 [GRCh38]
Chr19:11222421 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.2324T>C (p.Val775Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002455982]|Familial hypercholesterolemia [RCV000800276]|Hypercholesterolemia, familial, 1 [RCV000508779] |
Chr19:11128020 [GRCh38]
Chr19:11238696 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.817+1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508780] |
Chr19:11106688 [GRCh38]
Chr19:11217364 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857284]|Hypercholesterolemia, familial, 1 [RCV000508781]|not provided [RCV003317248] |
Chr19:11113614 [GRCh38]
Chr19:11224290 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1359-31G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525354]|Hypercholesterolemia, familial, 1 [RCV000508786] |
Chr19:11113504 [GRCh38]
Chr19:11224180 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2141-89G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508787] |
Chr19:11123085 [GRCh38]
Chr19:11233761 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.4(LDLR):c.-150A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508789] |
Chr19:11089399 [GRCh38]
Chr19:11200075 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.814_818del (p.Asn272fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508790] |
Chr19:11106683..11107391 [GRCh38]
Chr19:11217360..11218068 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.543G>T (p.Pro181=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350130]|Familial hypercholesterolemia [RCV001184966]|Hypercholesterolemia, familial, 1 [RCV000508791] |
Chr19:11105449 [GRCh38]
Chr19:11216125 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.702del (p.Thr235fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508793] |
Chr19:11106571 [GRCh38]
Chr19:11217247 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1467C>A (p.Tyr489Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508795] |
Chr19:11113643 [GRCh38]
Chr19:11224319 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002527377]|Hypercholesterolemia, familial, 1 [RCV000508796] |
Chr19:11129653 [GRCh38]
Chr19:11240329 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581677]|Hypercholesterolemia, familial, 1 [RCV000508798] |
Chr19:11116961 [GRCh38]
Chr19:11227637 [GRCh37]
Chr19:19p13.2 |
benign|uncertain significance |
| NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383989]|Familial hypercholesterolemia [RCV000775067]|Hypercholesterolemia, familial, 1 [RCV000508799]|not provided [RCV002223855] |
Chr19:11113543 [GRCh38]
Chr19:11224219 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.839_848dup (p.Cys284fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000508801] |
Chr19:11107411..11107412 [GRCh38]
Chr19:11218087..11218088 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.191-1G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001227867]|Hypercholesterolemia, familial, 1 [RCV000508802] |
Chr19:11102663 [GRCh38]
Chr19:11213339 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.565del (p.Val189fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508803] |
Chr19:11105471 [GRCh38]
Chr19:11216147 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.380T>G (p.Val127Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508804] |
Chr19:11105286 [GRCh38]
Chr19:11215962 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1842_1845+2del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508805] |
Chr19:11116994..11116999 [GRCh38]
Chr19:11227670..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.115T>C (p.Cys39Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004023445]|Familial hypercholesterolemia [RCV001857283]|Hypercholesterolemia, familial, 1 [RCV000508808]|not provided [RCV003736799] |
Chr19:11100270 [GRCh38]
Chr19:11210946 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) |
deletion |
Familial hypercholesterolemia [RCV001275281]|Hypercholesterolemia, familial, 1 [RCV000508809]|not specified [RCV000780379] |
Chr19:11116163..11116165 [GRCh38]
Chr19:11226839..11226841 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.313+4_313+16del |
deletion |
Cardiovascular phenotype [RCV002323874]|Hypercholesterolemia, familial, 1 [RCV000508810] |
Chr19:11102790..11102802 [GRCh38]
Chr19:11213466..11213478 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1234A>C (p.Met412Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508811] |
Chr19:11113325 [GRCh38]
Chr19:11224001 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2251del (p.Arg751fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508813] |
Chr19:11123282 [GRCh38]
Chr19:11233958 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508814]|not specified [RCV002282192] |
Chr19:11120189 [GRCh38]
Chr19:11230865 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2259dup (p.Gly754fs) |
duplication |
Homozygous familial hypercholesterolemia [RCV000844751]|Hypercholesterolemia, familial, 1 [RCV000508815] |
Chr19:11123291..11123292 [GRCh38]
Chr19:11233967..11233968 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.796_800del (p.Asp266fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508816] |
Chr19:11106666..11106670 [GRCh38]
Chr19:11217342..11217346 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.29G>A (p.Trp10Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508821] |
Chr19:11089577 [GRCh38]
Chr19:11200253 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.431C>T (p.Pro144Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805125]|Hypercholesterolemia, familial, 1 [RCV000508823]|not provided [RCV003328591] |
Chr19:11105337 [GRCh38]
Chr19:11216013 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.188G>T (p.Cys63Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508827] |
Chr19:11100343 [GRCh38]
Chr19:11211019 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508828] |
Chr19:11113278 [GRCh38]
Chr19:11223954 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2476C>T (p.Pro826Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508829] |
Chr19:11129599 [GRCh38]
Chr19:11240275 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.658_663del (p.Pro220_Asp221del) |
deletion |
Familial hypercholesterolemia [RCV003236668]|Hypercholesterolemia, familial, 1 [RCV000508831] |
Chr19:11105563..11105568 [GRCh38]
Chr19:11216239..11216244 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.445G>C (p.Gly149Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508834] |
Chr19:11105351 [GRCh38]
Chr19:11216027 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413393]|Familial hypercholesterolemia [RCV001865664]|Hypercholesterolemia, familial, 1 [RCV000508835] |
Chr19:11116970 [GRCh38]
Chr19:11227646 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1586+5G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV004023446]|Familial hypercholesterolemia [RCV000586202]|Hypercholesterolemia, familial, 1 [RCV000508837]|not provided [RCV001509011] |
Chr19:11113767 [GRCh38]
Chr19:11224443 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.532del (p.Asp178fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508839] |
Chr19:11105437 [GRCh38]
Chr19:11216113 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2131T>G (p.Cys711Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508840] |
Chr19:11120513 [GRCh38]
Chr19:11231189 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2547+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002431470]|Familial hypercholesterolemia [RCV001321571]|Hypercholesterolemia, familial, 1 [RCV000508841]|not provided [RCV002264950]|not specified [RCV003323578] |
Chr19:11129675 [GRCh38]
Chr19:11240351 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2140+1_2140+12del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508842] |
Chr19:11120522..11120533 [GRCh38]
Chr19:11231198..11231209 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2050del (p.Ala684fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508847] |
Chr19:11120432 [GRCh38]
Chr19:11231108 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1413_1414delinsGGACAT (p.Gln474fs) |
indel |
Cardiovascular phenotype [RCV003352899]|Familial hypercholesterolemia [RCV003581676]|Hypercholesterolemia, familial, 1 [RCV000508848] |
Chr19:11113589..11113590 [GRCh38]
Chr19:11224265..11224266 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1028G>T (p.Gly343Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508849] |
Chr19:11110739 [GRCh38]
Chr19:11221415 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.737G>T (p.Gly246Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508850] |
Chr19:11106607 [GRCh38]
Chr19:11217283 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1603G>A (p.Asp535Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508851] |
Chr19:11116110 [GRCh38]
Chr19:11226786 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.858C>T (p.Ser286=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446988]|Familial hypercholesterolemia [RCV000771222]|Hypercholesterolemia, familial, 1 [RCV000508853]|not provided [RCV001706654]|not specified [RCV001584226] |
Chr19:11107432 [GRCh38]
Chr19:11218108 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1743A>T (p.Lys581Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508854]|LDLR-related condition [RCV003409722] |
Chr19:11116896 [GRCh38]
Chr19:11227572 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.408C>T (p.Asp136=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323877]|Familial hypercholesterolemia [RCV001191573]|Hypercholesterolemia, familial, 1 [RCV000508857]|not provided [RCV002225640] |
Chr19:11105314 [GRCh38]
Chr19:11215990 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.248T>C (p.Ile83Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003766887]|Hypercholesterolemia, familial, 1 [RCV000508858] |
Chr19:11102721 [GRCh38]
Chr19:11213397 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.324G>C (p.Thr108=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323876]|Familial hypercholesterolemia [RCV002056915]|Hypercholesterolemia, familial, 1 [RCV000508861] |
Chr19:11105230 [GRCh38]
Chr19:11215906 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2274del (p.Leu759fs) |
deletion |
Cardiovascular phenotype [RCV002448553]|Familial hypercholesterolemia [RCV001857285]|Hypercholesterolemia, familial, 1 [RCV000508862] |
Chr19:11123305 [GRCh38]
Chr19:11233981 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1431C>T (p.Asp477=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395229]|Familial hypercholesterolemia [RCV001191574]|Hypercholesterolemia, familial, 1 [RCV000508863]|not provided [RCV003478084] |
Chr19:11113607 [GRCh38]
Chr19:11224283 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.417C>T (p.Asp139=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001500585]|Hypercholesterolemia, familial, 1 [RCV000508864] |
Chr19:11105323 [GRCh38]
Chr19:11215999 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1336C>T (p.Leu446=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383988]|Familial hypercholesterolemia [RCV000866419]|Hypercholesterolemia, familial, 1 [RCV000508866] |
Chr19:11113427 [GRCh38]
Chr19:11224103 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.68-79G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508867] |
Chr19:11100144 [GRCh38]
Chr19:11210820 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183223]|Hypercholesterolemia, familial, 1 [RCV000508869] |
Chr19:11111609 [GRCh38]
Chr19:11222285 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508870] |
Chr19:11089551 [GRCh38]
Chr19:11200227 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.262A>G (p.Arg88Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508871] |
Chr19:11102735 [GRCh38]
Chr19:11213411 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.770G>C (p.Arg257Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508873] |
Chr19:11106640 [GRCh38]
Chr19:11217316 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508875]|not provided [RCV001796085] |
Chr19:11129569 [GRCh38]
Chr19:11240245 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.681C>T (p.Asp227=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002367702]|Familial hypercholesterolemia [RCV001180057]|Hypercholesterolemia, familial, 1 [RCV000508876]|LDLR-related condition [RCV003942664] |
Chr19:11105587 [GRCh38]
Chr19:11216263 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.643C>T (p.Arg215Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001214985]|Hypercholesterolemia, familial, 1 [RCV000508878] |
Chr19:11105549 [GRCh38]
Chr19:11216225 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1187-48A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508879] |
Chr19:11113230 [GRCh38]
Chr19:11223906 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.962del (p.Asn321fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508882] |
Chr19:11110672 [GRCh38]
Chr19:11221348 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.904T>C (p.Cys302Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508883] |
Chr19:11107478 [GRCh38]
Chr19:11218154 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508884] |
Chr19:11113624 [GRCh38]
Chr19:11224300 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1705+2T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508885] |
Chr19:11116214 [GRCh38]
Chr19:11226890 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001829453]|Hypercholesterolemia, familial, 1 [RCV000508886] |
Chr19:11111533 [GRCh38]
Chr19:11222209 [GRCh37]
Chr19:19p13.2 |
benign|uncertain significance |
| NM_000527.5(LDLR):c.90_91insTGTGTTT (p.Glu31delinsCysValTer) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000508888] |
Chr19:11100245..11100246 [GRCh38]
Chr19:11210921..11210922 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2026G>T (p.Gly676Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508889] |
Chr19:11120408 [GRCh38]
Chr19:11231084 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1050A>C (p.Arg350=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508890] |
Chr19:11110761 [GRCh38]
Chr19:11221437 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.351C>T (p.His117=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775601]|Hypercholesterolemia, familial, 1 [RCV000508891] |
Chr19:11105257 [GRCh38]
Chr19:11215933 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.4(LDLR):c.2141_2311del171 (p.Glu714_Gln770del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508892] |
Chr19:11123172..11123342 [GRCh38]
Chr19:11233848..11234018 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1187-9G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508893] |
Chr19:11113269 [GRCh38]
Chr19:11223945 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.548G>A (p.Arg183His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508894] |
Chr19:11105454 [GRCh38]
Chr19:11216130 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.828C>T (p.Cys276=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431469]|Familial hypercholesterolemia [RCV000771187]|Hypercholesterolemia, familial, 1 [RCV000508895]|not specified [RCV003323577] |
Chr19:11107402 [GRCh38]
Chr19:11218078 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2062_2063insC (p.Asn688fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000508897] |
Chr19:11120444..11120445 [GRCh38]
Chr19:11231120..11231121 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.259T>C (p.Trp87Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508899] |
Chr19:11102732 [GRCh38]
Chr19:11213408 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.557dup (p.Leu187fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000508900] |
Chr19:11105459..11105460 [GRCh38]
Chr19:11216135..11216136 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.680_692delACGAGGAAAACTGins24 (p.?) |
indel |
Hypercholesterolemia, familial, 1 [RCV000508904] |
Chr19:11105586..11105598 [GRCh38]
Chr19:11216262..11216274 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.567G>C (p.Val189=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350131]|Familial hypercholesterolemia [RCV001183224]|Hypercholesterolemia, familial, 1 [RCV000508908] |
Chr19:11105473 [GRCh38]
Chr19:11216149 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.123C>T (p.Ser41=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376946]|Hypercholesterolemia, familial, 1 [RCV000508910] |
Chr19:11100278 [GRCh38]
Chr19:11210954 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1845+2T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508911] |
Chr19:11117000 [GRCh38]
Chr19:11227676 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2402del (p.Phe801fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508912] |
Chr19:11129524 [GRCh38]
Chr19:11240200 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.400T>G (p.Cys134Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508913] |
Chr19:11105306 [GRCh38]
Chr19:11215982 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1060+109T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508914] |
Chr19:11110880 [GRCh38]
Chr19:11221556 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.2260G>A (p.Gly754Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508915] |
Chr19:11123293 [GRCh38]
Chr19:11233969 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1570_1579del (p.Val524fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508917] |
Chr19:11113744..11113753 [GRCh38]
Chr19:11224420..11224429 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.132G>A (p.Trp44Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383986]|Hypercholesterolemia, familial, 1 [RCV000508919] |
Chr19:11100287 [GRCh38]
Chr19:11210963 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1064dup (p.Asp356fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000508924] |
Chr19:11111516..11111517 [GRCh38]
Chr19:11222192..11222193 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1988-1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581673]|Hypercholesterolemia, familial, 1 [RCV000505181] |
Chr19:11120369 [GRCh38]
Chr19:11231045 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2500del (p.Asp834fs) |
deletion |
Cardiovascular phenotype [RCV004023447]|Familial hypercholesterolemia [RCV001390890]|Hypercholesterolemia, familial, 1 [RCV000508927] |
Chr19:11129622 [GRCh38]
Chr19:11240298 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1002C>T (p.Ile334=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395228]|Familial hypercholesterolemia [RCV000775609]|Hypercholesterolemia, familial, 1 [RCV000508929] |
Chr19:11110713 [GRCh38]
Chr19:11221389 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.450C>T (p.Pro150=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341197]|Familial hypercholesterolemia [RCV000869698]|Hypercholesterolemia, familial, 1 [RCV000508930]|not specified [RCV001805126] |
Chr19:11105356 [GRCh38]
Chr19:11216032 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.910G>C (p.Asp304His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376948]|Hypercholesterolemia, familial, 1 [RCV000508931] |
Chr19:11107484 [GRCh38]
Chr19:11218160 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2116_2117insC (p.Arg706fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000508932] |
Chr19:11120498..11120499 [GRCh38]
Chr19:11231174..11231175 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.660C>T (p.Pro220=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376947]|Familial hypercholesterolemia [RCV000776270]|Hypercholesterolemia, familial, 1 [RCV000508935]|not provided [RCV003419880] |
Chr19:11105566 [GRCh38]
Chr19:11216242 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.191-50C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508936] |
Chr19:11102614 [GRCh38]
Chr19:11213290 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.378C>T (p.Phe126=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001455875]|Hypercholesterolemia, familial, 1 [RCV000508937] |
Chr19:11105284 [GRCh38]
Chr19:11215960 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1379_1394delinsCAGCT (p.His460fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000508938] |
Chr19:11113555..11113570 [GRCh38]
Chr19:11224231..11224246 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2039T>C (p.Leu680Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001036739]|Hypercholesterolemia, familial, 1 [RCV000508939] |
Chr19:11120421 [GRCh38]
Chr19:11231097 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.840_841insT (p.Lys281Ter) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000508943] |
Chr19:11107414..11107415 [GRCh38]
Chr19:11218090..11218091 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.300C>G (p.Asp100Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508944] |
Chr19:11102773 [GRCh38]
Chr19:11213449 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.819G>A (p.Val273=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508946] |
Chr19:11107393 [GRCh38]
Chr19:11218069 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.4(LDLR):c.-151C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508948] |
Chr19:11089398 [GRCh38]
Chr19:11200074 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.738A>G (p.Gly246=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508950] |
Chr19:11106608 [GRCh38]
Chr19:11217284 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1835C>T (p.Ala612Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179047]|Hypercholesterolemia, familial, 1 [RCV000508951]|not provided [RCV002223856] |
Chr19:11116988 [GRCh38]
Chr19:11227664 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2422_2425del (p.Leu808fs) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000508952] |
Chr19:11129541..11129544 [GRCh38]
Chr19:11240217..11240220 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-98C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508954] |
Chr19:11089451 [GRCh38]
Chr19:11200127 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1491T>C (p.Thr497=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395231]|Familial hypercholesterolemia [RCV001397481]|Hypercholesterolemia, familial, 1 [RCV000508955] |
Chr19:11113667 [GRCh38]
Chr19:11224343 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.666C>T (p.Cys222=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002367701]|Familial hypercholesterolemia [RCV001187844]|Hypercholesterolemia, familial, 1 [RCV000508956]|not provided [RCV003480662] |
Chr19:11105572 [GRCh38]
Chr19:11216248 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.139G>C (p.Asp47His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508959] |
Chr19:11100294 [GRCh38]
Chr19:11210970 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.940+1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508960] |
Chr19:11107515 [GRCh38]
Chr19:11218191 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1988-1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508962] |
Chr19:11120369 [GRCh38]
Chr19:11231045 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1769_1774del (p.Val590_Asn591del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000508964] |
Chr19:11116921..11116926 [GRCh38]
Chr19:11227597..11227602 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.337dup (p.Glu113fs) |
duplication |
Cardiovascular phenotype [RCV002455981]|Familial hypercholesterolemia [RCV001201349]|Hypercholesterolemia [RCV000856583]|Hypercholesterolemia, familial, 1 [RCV000508965]|not provided [RCV000786351] |
Chr19:11105242..11105243 [GRCh38]
Chr19:11215918..11215919 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.886T>C (p.Cys296Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508968] |
Chr19:11107460 [GRCh38]
Chr19:11218136 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.79T>C (p.Cys27Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001857282]|Hypercholesterolemia, familial, 1 [RCV000508969] |
Chr19:11100234 [GRCh38]
Chr19:11210910 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2312-3C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508970] |
Chr19:11128005 [GRCh38]
Chr19:11238681 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1067A>T (p.Asp356Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001187845]|Hypercholesterolemia, familial, 1 [RCV000508971] |
Chr19:11111520 [GRCh38]
Chr19:11222196 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.628A>C (p.Ile210Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508972] |
Chr19:11105534 [GRCh38]
Chr19:11216210 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1435C>G (p.Leu479Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395230]|Familial hypercholesterolemia [RCV002524933]|Hypercholesterolemia, familial, 1 [RCV000508973] |
Chr19:11113611 [GRCh38]
Chr19:11224287 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.722T>G (p.Phe241Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000508975] |
Chr19:11106592 [GRCh38]
Chr19:11217268 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001293740]|Hypercholesterolemia, familial, 1 [RCV000508976] |
Chr19:11129571 [GRCh38]
Chr19:11240247 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.535_536insGCTCGGAG (p.Glu179fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000508977] |
Chr19:11105440..11105441 [GRCh38]
Chr19:11216116..11216117 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.528C>T (p.Gly176=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495859] |
Chr19:11105434 [GRCh38]
Chr19:11216110 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2044C>T (p.Leu682Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495860] |
Chr19:11120426 [GRCh38]
Chr19:11231102 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.860del (p.Gly287fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495863] |
Chr19:11107433 [GRCh38]
Chr19:11218109 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.882_883del (p.Lys294fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495864] |
Chr19:11107456..11107457 [GRCh38]
Chr19:11218132..11218133 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2323_2352del (p.Val775_Pro784del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495867] |
Chr19:11128018..11128047 [GRCh38]
Chr19:11238694..11238723 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.666_688del (p.Cys222_Asn230delinsTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495868] |
Chr19:11105572..11105594 [GRCh38]
Chr19:11216248..11216270 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1829_1840dup (p.Ser610_Val613dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000495870] |
Chr19:11116978..11116979 [GRCh38]
Chr19:11227654..11227655 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1359-25A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495872] |
Chr19:11113510 [GRCh38]
Chr19:11224186 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1530del (p.Leu511fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495873] |
Chr19:11113706 [GRCh38]
Chr19:11224382 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.680_682delinsCA (p.Asp227fs) |
indel |
Familial hypercholesterolemia [RCV001181306]|Hypercholesterolemia, familial, 1 [RCV000495875] |
Chr19:11105586..11105588 [GRCh38]
Chr19:11216262..11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.318_336del (p.Lys107fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495876] |
Chr19:11105223..11105241 [GRCh38]
Chr19:11215899..11215917 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2270del (p.Pro757fs) |
deletion |
Cardiovascular phenotype [RCV002446966]|Familial hypercholesterolemia [RCV001247541]|Hypercholesterolemia, familial, 1 [RCV000495881] |
Chr19:11123300 [GRCh38]
Chr19:11233976 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2422C>G (p.Leu808Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495882] |
Chr19:11129545 [GRCh38]
Chr19:11240221 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.251_252insCATTCTG (p.Gln85fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000495885] |
Chr19:11102724..11102725 [GRCh38]
Chr19:11213400..11213401 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1736_1737delinsT (p.Asp579fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000495886] |
Chr19:11116889..11116890 [GRCh38]
Chr19:11227565..11227566 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1427C>T (p.Pro476Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495888] |
Chr19:11113603 [GRCh38]
Chr19:11224279 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1568TGG[1] (p.Val524del) |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV000495889] |
Chr19:11113743..11113745 [GRCh38]
Chr19:11224419..11224421 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1081C>T (p.Pro361Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495890] |
Chr19:11111534 [GRCh38]
Chr19:11222210 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.116G>T (p.Cys39Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495891] |
Chr19:11100271 [GRCh38]
Chr19:11210947 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.519_532del (p.Cys173_Asp178delinsTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495895] |
Chr19:11105424..11105437 [GRCh38]
Chr19:11216100..11216113 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372732]|Hypercholesterolemia, familial, 1 [RCV000495897] |
Chr19:11116897 [GRCh38]
Chr19:11227573 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.-28G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495901] |
Chr19:11089521 [GRCh38]
Chr19:11200197 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.669_683delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu) |
indel |
Hypercholesterolemia, familial, 1 [RCV000495903] |
Chr19:11105575..11105589 [GRCh38]
Chr19:11216251..11216265 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.565_568delinsTG (p.Val189fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000495905] |
Chr19:11105471..11105474 [GRCh38]
Chr19:11216147..11216150 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1566del (p.Ile522fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495907] |
Chr19:11113742 [GRCh38]
Chr19:11224418 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1114G>T (p.Glu372Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495909] |
Chr19:11111567 [GRCh38]
Chr19:11222243 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000495912]|not specified [RCV002231632] |
Chr19:11123260..11123261 [GRCh38]
Chr19:11233936..11233937 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1130del (p.Cys377fs) |
deletion |
Familial hypercholesterolemia [RCV003741193]|Hypercholesterolemia, familial, 1 [RCV000495913]|not provided [RCV001284637] |
Chr19:11111583 [GRCh38]
Chr19:11222259 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1738_1739insTGT (p.Asp579_Ser580insLeu) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000495918] |
Chr19:11116890..11116891 [GRCh38]
Chr19:11227566..11227567 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.613C>G (p.Leu205Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741192]|Hypercholesterolemia, familial, 1 [RCV000495919] |
Chr19:11105519 [GRCh38]
Chr19:11216195 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1456del (p.Ser486fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495920] |
Chr19:11113632 [GRCh38]
Chr19:11224308 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2061del (p.Asn688fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495922] |
Chr19:11120443 [GRCh38]
Chr19:11231119 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2393_2409del (p.Leu798fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495925] |
Chr19:11129513..11129529 [GRCh38]
Chr19:11240189..11240205 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495927]|not provided [RCV001200616] |
Chr19:11116185 [GRCh38]
Chr19:11226861 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1744_1745insA (p.Leu582fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000495932] |
Chr19:11116897..11116898 [GRCh38]
Chr19:11227573..11227574 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.805G>A (p.Gly269Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495934] |
Chr19:11106675 [GRCh38]
Chr19:11217351 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495937] |
Chr19:11113588 [GRCh38]
Chr19:11224264 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.190+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002413363]|Hypercholesterolemia, familial, 1 [RCV000495939] |
Chr19:11100350 [GRCh38]
Chr19:11211026 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1846_1865del (p.Asp616fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495940] |
Chr19:11120092..11120111 [GRCh38]
Chr19:11230768..11230787 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495862] |
Chr19:11123293 [GRCh38]
Chr19:11233969 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431443]|Familial hypercholesterolemia [RCV000775020]|Hypercholesterolemia, familial, 1 [RCV000495866]|not provided [RCV003322777]|not specified [RCV002307522] |
Chr19:11100237 [GRCh38]
Chr19:11210913 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.4(LDLR):c.-97G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776578]|Hypercholesterolemia, familial, 1 [RCV000495878] |
Chr19:11089452 [GRCh38]
Chr19:11200128 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.829G>T (p.Glu277Ter) |
single nucleotide variant |
Homozygous familial hypercholesterolemia [RCV004017649]|Hypercholesterolemia, familial, 1 [RCV000495880] |
Chr19:11107403 [GRCh38]
Chr19:11218079 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.551G>C (p.Cys184Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495884]|not provided [RCV000588844] |
Chr19:11105457 [GRCh38]
Chr19:11216133 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1979A>C (p.Gln660Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495887] |
Chr19:11120225 [GRCh38]
Chr19:11230901 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.311G>C (p.Cys104Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495892] |
Chr19:11102784 [GRCh38]
Chr19:11213460 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-142C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179375]|Hypercholesterolemia, familial, 1 [RCV000495899] |
Chr19:11089407 [GRCh38]
Chr19:11200083 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.178del (p.Gln60fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495900] |
Chr19:11100331 [GRCh38]
Chr19:11211007 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-286C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001192182]|Hypercholesterolemia, familial, 1 [RCV000495906] |
Chr19:11089263 [GRCh38]
Chr19:11199939 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2079G>A (p.Lys693=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003766786]|Hypercholesterolemia, familial, 1 [RCV000495908] |
Chr19:11120461 [GRCh38]
Chr19:11231137 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign |
| NM_000527.5(LDLR):c.1733T>C (p.Val578Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404297]|Hypercholesterolemia, familial, 1 [RCV000495915]|See cases [RCV003128404] |
Chr19:11116886 [GRCh38]
Chr19:11227562 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1988G>C (p.Gly663Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495916] |
Chr19:11120370 [GRCh38]
Chr19:11231046 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.905G>T (p.Cys302Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495921] |
Chr19:11107479 [GRCh38]
Chr19:11218155 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.417C>A (p.Asp139Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495923] |
Chr19:11105323 [GRCh38]
Chr19:11215999 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1057G>T (p.Glu353Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495929] |
Chr19:11110768 [GRCh38]
Chr19:11221444 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.-229_-90del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000495930] |
Chr19:11089319..11089458 [GRCh38]
Chr19:11199995..11200134 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.442_504delinsA (p.Cys148fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV000495933] |
Chr19:11105348..11105410 [GRCh38]
Chr19:11216024..11216086 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1221C>T (p.His407=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356810]|Familial hypercholesterolemia [RCV000776579]|Hypercholesterolemia, familial, 1 [RCV000495935] |
Chr19:11113312 [GRCh38]
Chr19:11223988 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV003302731]|Familial hypercholesterolemia [RCV001384922]|Hypercholesterolemia, familial, 1 [RCV000495936] |
Chr19:11123263 [GRCh38]
Chr19:11233939 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.314-1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495941] |
Chr19:11105219 [GRCh38]
Chr19:11215895 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11210879)_(11222335_?)dup |
duplication |
Familial hypercholesterolemia [RCV001388221]|Hypercholesterolemia, familial, 1 [RCV000558202] |
Chr19:11100203..11111659 [GRCh38]
Chr19:11210879..11222335 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1867dup (p.Ile623fs) |
duplication |
Cardiovascular phenotype [RCV002413665]|Familial hypercholesterolemia [RCV000588772] |
Chr19:11120112..11120113 [GRCh38]
Chr19:11230788..11230789 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2064C>T (p.Asn688=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420681]|Familial hypercholesterolemia [RCV000776529]|Hypercholesterolemia, familial, 1 [RCV004003805]|not provided [RCV003478353] |
Chr19:11120446 [GRCh38]
Chr19:11231122 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2478C>T (p.Pro826=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448935]|Familial hypercholesterolemia [RCV001489597]|Hypercholesterolemia, familial, 1 [RCV004003806]|not provided [RCV000631373] |
Chr19:11129601 [GRCh38]
Chr19:11240277 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2322C>T (p.Asp774=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180533]|Hypercholesterolemia, familial, 1 [RCV004003809] |
Chr19:11128018 [GRCh38]
Chr19:11238694 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11105200)_(11107534_?)del |
deletion |
Familial hypercholesterolemia [RCV000631382] |
Chr19:11105200..11107534 [GRCh38]
Chr19:11215876..11218210 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NC_000019.10:g.(?_11089529)_(11100365_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000631385] |
Chr19:11089529..11100365 [GRCh38]
Chr19:11200205..11211041 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000515152] |
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2055G>A (p.Pro685=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420682]|Familial hypercholesterolemia [RCV000631377]|Hypercholesterolemia, familial, 1 [RCV001126804]|not provided [RCV003478354]|not specified [RCV003488743] |
Chr19:11120437 [GRCh38]
Chr19:11231113 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.285C>T (p.Cys95=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438650]|Familial hypercholesterolemia [RCV000775028]|Hypercholesterolemia, familial, 1 [RCV004003808] |
Chr19:11102758 [GRCh38]
Chr19:11213434 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1819C>T (p.His607Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002233926]|Hypercholesterolemia, familial, 1 [RCV004002814] |
Chr19:11116972 [GRCh38]
Chr19:11227648 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.500G>C (p.Cys167Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002234402]|not provided [RCV000985768] |
Chr19:11105406 [GRCh38]
Chr19:11216082 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11111494)_(11113782_?)del |
deletion |
Familial hypercholesterolemia [RCV001388217]|Hypercholesterolemia, familial, 1 [RCV000631383] |
Chr19:11111494..11113782 [GRCh38]
Chr19:11222170..11224458 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1050A>G (p.Arg350=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003283509]|Familial hypercholesterolemia [RCV003741342] |
Chr19:11110761 [GRCh38]
Chr19:11221437 [GRCh37]
Chr19:19p13.2 |
likely benign |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.684G>C (p.Glu228Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001376812]|Hypercholesterolemia, familial, 1 [RCV000627178] |
Chr19:11105590 [GRCh38]
Chr19:11216266 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2141-5T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV004311242] |
Chr19:11123169 [GRCh38]
Chr19:11233845 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1090T>G (p.Cys364Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV004291380]|Hypercholesterolemia, familial, 1 [RCV004009692] |
Chr19:11111543 [GRCh38]
Chr19:11222219 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.274C>T (p.Gln92Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002233925] |
Chr19:11102747 [GRCh38]
Chr19:11213423 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1635G>A (p.Gly545=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404737]|Familial hypercholesterolemia [RCV000631376]|Hypercholesterolemia, familial, 1 [RCV004003807]|not provided [RCV001800835] |
Chr19:11116142 [GRCh38]
Chr19:11226818 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.428G>T (p.Cys143Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000627177]|not provided [RCV003235315] |
Chr19:11105334 [GRCh38]
Chr19:11216010 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1988-24C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV003296564] |
Chr19:11120346 [GRCh38]
Chr19:11231022 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1186+8C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002231226] |
Chr19:11111647 [GRCh38]
Chr19:11222323 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1078G>C (p.Asp360His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420657]|Familial hypercholesterolemia [RCV000775610]|Hypercholesterolemia, familial, 1 [RCV000627169]|not specified [RCV001199891] |
Chr19:11111531 [GRCh38]
Chr19:11222207 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1895A>T (p.Asn632Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413781]|Hypercholesterolemia, familial, 1 [RCV000627180] |
Chr19:11120141 [GRCh38]
Chr19:11230817 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-227G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000627186] |
Chr19:11089322 [GRCh38]
Chr19:11199998 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1461dup (p.Ile488fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV000627188] |
Chr19:11113636..11113637 [GRCh38]
Chr19:11224312..11224313 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1462_1463insC (p.Ile488fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV000627189] |
Chr19:11113638..11113639 [GRCh38]
Chr19:11224314..11224315 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.940+36G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000627193] |
Chr19:11107550 [GRCh38]
Chr19:11218226 [GRCh37]
Chr19:19p13.2 |
benign |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NM_000527.5(LDLR):c.345C>G (p.Arg115=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334060]|Familial hypercholesterolemia [RCV000631374]|Hypercholesterolemia, familial, 1 [RCV002470938]|not specified [RCV001420939] |
Chr19:11105251 [GRCh38]
Chr19:11215927 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.993C>T (p.Asp331=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002385982]|Familial hypercholesterolemia [RCV000771246]|Hypercholesterolemia, familial, 1 [RCV001126701]|not provided [RCV000840250]|not specified [RCV003317308] |
Chr19:11110704 [GRCh38]
Chr19:11221380 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1530G>A (p.Thr510=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404738]|Familial hypercholesterolemia [RCV000776527]|Hypercholesterolemia, familial, 1 [RCV004003810]|not specified [RCV003330846] |
Chr19:11113706 [GRCh38]
Chr19:11224382 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1428C>T (p.Pro476=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388006]|Familial hypercholesterolemia [RCV000631381]|Hypercholesterolemia, familial, 1 [RCV004003811]|LDLR-related condition [RCV003935754]|not provided [RCV003736864]|not specified [RCV003330847] |
Chr19:11113604 [GRCh38]
Chr19:11224280 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.9:g.(?_11238684)_(11248011_?)dup |
duplication |
Familial hypercholesterolemia [RCV001379367]|Hypercholesterolemia, familial, 1 [RCV000631384] |
Chr19:11128008..11137335 [GRCh38]
Chr19:11238684..11248011 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660735] |
Chr19:11129512..11133830 [GRCh38]
Chr19:11240188..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660737] |
Chr19:11128007..11133830 [GRCh38]
Chr19:11238683..11244506 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660727] |
Chr19:11116093..11116999 [GRCh38]
Chr19:11226769..11227675 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660729] |
Chr19:11120091..11123345 [GRCh38]
Chr19:11230767..11234021 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660734] |
Chr19:11089362..11089616 [GRCh38]
Chr19:11200038..11200292 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1744C>G (p.Leu582Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000660718] |
Chr19:11116897 [GRCh38]
Chr19:11227573 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1 |
copy number loss |
Hypercholesterolemia, familial, 1 [RCV000660740] |
Chr19:11100222..11102787 [GRCh38]
Chr19:11210898..11213463 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.861C>T (p.Gly287=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002369905]|Familial hypercholesterolemia [RCV000698309]|Hypercholesterolemia, familial, 1 [RCV003999679] |
Chr19:11107435 [GRCh38]
Chr19:11218111 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1011_1025del (p.Glu337_Pro341del) |
deletion |
not provided [RCV000721112] |
Chr19:11110719..11110733 [GRCh38]
Chr19:11221395..11221409 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2389G>C (p.Val797Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458198]|Familial hypercholesterolemia [RCV000685681] |
Chr19:11128085 [GRCh38]
Chr19:11238761 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.694+1G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002233349]|Hypercholesterolemia, familial, 1 [RCV000700931] |
Chr19:11105601 [GRCh38]
Chr19:11216277 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.413C>A (p.Ser138Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001813910] |
Chr19:11105319 [GRCh38]
Chr19:11215995 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000700653]|Hypercholesterolemia, familial, 1 [RCV002485721]|not specified [RCV001264550] |
Chr19:11105304 [GRCh38]
Chr19:11215980 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1595_1596dup (p.Trp533fs) |
duplication |
Familial hypercholesterolemia [RCV002232971] |
Chr19:11116101..11116102 [GRCh38]
Chr19:11226777..11226778 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1209C>A (p.Phe403Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000685044] |
Chr19:11113300 [GRCh38]
Chr19:11223976 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NC_000019.10:g.(?_11123154)_(11131359_?)del |
deletion |
Familial hypercholesterolemia [RCV000708277] |
Chr19:11123154..11131359 [GRCh38]
Chr19:11233830..11242035 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11102644)_(11107534_?)del |
deletion |
Familial hypercholesterolemia [RCV001861928]|Hypercholesterolemia, familial, 1 [RCV000708285] |
Chr19:11102644..11107534 [GRCh38]
Chr19:11213320..11218210 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11120072)_(11120608_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000708252] |
Chr19:11120072..11120608 [GRCh38]
Chr19:11230748..11231284 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.996_1009delinsGCA (p.Lys333fs) |
indel |
Familial hypercholesterolemia [RCV000692512] |
Chr19:11110707..11110720 [GRCh38]
Chr19:11221383..11221396 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001275278]|Hypercholesterolemia, familial, 1 [RCV002507217] |
Chr19:11113364 [GRCh38]
Chr19:11224040 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1851del (p.Val618fs) |
deletion |
Familial hypercholesterolemia [RCV002233696]|not provided [RCV001800859] |
Chr19:11120095 [GRCh38]
Chr19:11230771 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1706-5T>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002232967]|Hypercholesterolemia, familial, 1 [RCV003999746] |
Chr19:11116854 [GRCh38]
Chr19:11227530 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1118G>C (p.Gly373Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000695884]|Hypercholesterolemia, familial, 1 [RCV003999647] |
Chr19:11111571 [GRCh38]
Chr19:11222247 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NC_000019.10:g.(?_11113272)_(11120528_?)del |
deletion |
Familial hypercholesterolemia [RCV001388219]|Hypercholesterolemia, familial, 1 [RCV000707861] |
Chr19:11113272..11120528 [GRCh38]
Chr19:11223948..11231204 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.974G>T (p.Cys325Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV003303184]|Familial hypercholesterolemia [RCV002233390] |
Chr19:11110685 [GRCh38]
Chr19:11221361 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(?_11223934)_(11227694_?)dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV000708143] |
Chr19:11113258..11117018 [GRCh38]
Chr19:11223934..11227694 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11127988)_(11128105_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000708177] |
Chr19:11127988..11128105 [GRCh38]
Chr19:11238664..11238781 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11116074)_(11131359_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000708515] |
Chr19:11116074..11131359 [GRCh38]
Chr19:11226750..11242035 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11089282)_(11089633_?)del |
deletion |
Familial hypercholesterolemia [RCV000819208] |
Chr19:11089282..11089633 [GRCh38]
Chr19:11199958..11200309 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1527A>T (p.Lys509Asn) |
single nucleotide variant |
not provided [RCV001531889] |
Chr19:11113703 [GRCh38]
Chr19:11224379 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NM_000527.5(LDLR):c.1939C>T (p.Leu647=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176020]|Hypercholesterolemia, familial, 1 [RCV004004389] |
Chr19:11120185 [GRCh38]
Chr19:11230861 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-50_1186+50dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV001724779] |
Chr19:11105168..11105169 [GRCh38]
Chr19:11221454 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1026C>T (p.Asp342=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381965]|Familial hypercholesterolemia [RCV000869553]|Hypercholesterolemia, familial, 1 [RCV004003045] |
Chr19:11110737 [GRCh38]
Chr19:11221413 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2190G>A (p.Lys730=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001401388] |
Chr19:11123223 [GRCh38]
Chr19:11233899 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.272del (p.Gly91fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000761444] |
Chr19:11102744 [GRCh38]
Chr19:11213420 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:11240189-11241992)x1 |
copy number loss |
not provided [RCV003312462] |
Chr19:11240189..11241992 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.772del (p.Glu258fs) |
deletion |
not provided [RCV000759076] |
Chr19:11106640 [GRCh38]
Chr19:11217316 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1228A>G (p.Arg410Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001043440] |
Chr19:11113319 [GRCh38]
Chr19:11223995 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.10:g.(?_11116084)_(11117013_?)dup |
duplication |
Familial hypercholesterolemia [RCV001032307] |
Chr19:11226760..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.323C>A (p.Thr108Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001044316] |
Chr19:11105229 [GRCh38]
Chr19:11215905 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1845+15C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581492] |
Chr19:11117013 [GRCh38]
Chr19:11227689 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NC_000019.10:g.(?_11127998)_(11131359_?)del |
deletion |
Familial hypercholesterolemia [RCV001031075] |
Chr19:11238674..11242035 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2241C>T (p.Pro747=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416111]|Familial hypercholesterolemia [RCV000901586]|Hypercholesterolemia, familial, 1 [RCV004003155] |
Chr19:11123274 [GRCh38]
Chr19:11233950 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.504C>T (p.Asp168=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001477797] |
Chr19:11105410 [GRCh38]
Chr19:11216086 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.191-5T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001501055] |
Chr19:11102659 [GRCh38]
Chr19:11213335 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.981C>T (p.His327=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180450]|Hypercholesterolemia, familial, 1 [RCV004004403] |
Chr19:11110692 [GRCh38]
Chr19:11221368 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1863A>T (p.Thr621=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000921831] |
Chr19:11120109 [GRCh38]
Chr19:11230785 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2547+9C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001275784] |
Chr19:11129679 [GRCh38]
Chr19:11240355 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1401C>T (p.Thr467=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000865095]|Hypercholesterolemia, familial, 1 [RCV004002955] |
Chr19:11113577 [GRCh38]
Chr19:11224253 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1083C>T (p.Pro361=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000877728]|Hypercholesterolemia, familial, 1 [RCV004003126] |
Chr19:11111536 [GRCh38]
Chr19:11222212 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1380C>T (p.His460=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381929]|Familial hypercholesterolemia [RCV000864493]|Hypercholesterolemia, familial, 1 [RCV004002946]|not specified [RCV001201282] |
Chr19:11113556 [GRCh38]
Chr19:11224232 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.651T>C (p.Asp217=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363243]|Familial hypercholesterolemia [RCV000868131]|Hypercholesterolemia, familial, 1 [RCV004003014] |
Chr19:11105557 [GRCh38]
Chr19:11216233 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11116084)_(11117013_?)del |
deletion |
Familial hypercholesterolemia [RCV001033006] |
Chr19:11226760..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.310T>G (p.Cys104Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001041903] |
Chr19:11102783 [GRCh38]
Chr19:11213459 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1357del (p.Ser453fs) |
deletion |
Familial hypercholesterolemia [RCV001056523] |
Chr19:11113448 [GRCh38]
Chr19:11224124 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.966del (p.Asn322fs) |
deletion |
Cardiovascular phenotype [RCV002379508]|Familial hypercholesterolemia [RCV001042537] |
Chr19:11110677 [GRCh38]
Chr19:11221353 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11120086)_(11129676_?)dup |
duplication |
Familial hypercholesterolemia [RCV001032625] |
Chr19:11230762..11240352 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.699_708del (p.Thr235fs) |
deletion |
Familial hypercholesterolemia [RCV001039748] |
Chr19:11106565..11106574 [GRCh38]
Chr19:11217241..11217250 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.579del (p.Asp193fs) |
deletion |
Familial hypercholesterolemia [RCV001037837] |
Chr19:11105485 [GRCh38]
Chr19:11216161 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1187-17G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772418] |
Chr19:11113261 [GRCh38]
Chr19:11223937 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2241C>A (p.Pro747=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002424764]|Familial hypercholesterolemia [RCV000772784]|Hypercholesterolemia, familial, 1 [RCV003999985] |
Chr19:11123274 [GRCh38]
Chr19:11233950 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1846-9C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772894] |
Chr19:11120083 [GRCh38]
Chr19:11230759 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.244_246del (p.Cys82del) |
deletion |
Familial hypercholesterolemia [RCV000774815]|Hypercholesterolemia, familial, 1 [RCV004017732] |
Chr19:11102715..11102717 [GRCh38]
Chr19:11213391..11213393 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1014C>T (p.Cys338=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002332554]|Familial hypercholesterolemia [RCV000774817] |
Chr19:11110725 [GRCh38]
Chr19:11221401 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1854A>G (p.Val618=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406709]|Familial hypercholesterolemia [RCV001179616]|Hypercholesterolemia, familial, 1 [RCV004001517]|not specified [RCV000780380] |
Chr19:11120100 [GRCh38]
Chr19:11230776 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.4(LDLR):c.-107T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV000773304] |
Chr19:11089442 [GRCh38]
Chr19:11200118 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2311+10G>A |
single nucleotide variant |
not provided [RCV000786343] |
Chr19:11123354 [GRCh38]
Chr19:11234030 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.832G>T (p.Gly278Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000807880] |
Chr19:11107406 [GRCh38]
Chr19:11218082 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.904T>G (p.Cys302Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000808135] |
Chr19:11107478 [GRCh38]
Chr19:11218154 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2269C>G (p.Pro757Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000773961] |
Chr19:11123302 [GRCh38]
Chr19:11233978 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.138C>T (p.Cys46=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775023] |
Chr19:11100293 [GRCh38]
Chr19:11210969 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1104C>T (p.Cys368=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458384]|Familial hypercholesterolemia [RCV000775057]|Hypercholesterolemia, familial, 1 [RCV004001426]|not provided [RCV001284636] |
Chr19:11111557 [GRCh38]
Chr19:11222233 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001825537]|Hypercholesterolemia, familial, 1 [RCV002501019]|not specified [RCV000781502] |
Chr19:11120231 [GRCh38]
Chr19:11230907 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2224A>G (p.Thr742Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000774072] |
Chr19:11123257 [GRCh38]
Chr19:11233933 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.200C>T (p.Thr67Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000774117] |
Chr19:11102673 [GRCh38]
Chr19:11213349 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.694+8_694+18del |
deletion |
Cardiovascular phenotype [RCV004027288]|Familial hypercholesterolemia [RCV000775602]|Hypercholesterolemia, familial, 1 [RCV004001452]|not provided [RCV001700460] |
Chr19:11105605..11105615 [GRCh38]
Chr19:11216281..11216291 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.940+10G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV004027289]|Familial hypercholesterolemia [RCV000775606] |
Chr19:11107524 [GRCh38]
Chr19:11218200 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.941-15C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775607] |
Chr19:11110637 [GRCh38]
Chr19:11221313 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.966C>T (p.Asn322=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775608]|Hypercholesterolemia, familial, 1 [RCV004001453] |
Chr19:11110677 [GRCh38]
Chr19:11221353 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1705+9G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002406698]|Familial hypercholesterolemia [RCV000775611]|LDLR-related condition [RCV003955503] |
Chr19:11116221 [GRCh38]
Chr19:11226897 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1912G>A (p.Asp638Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775612]|Hypercholesterolemia, familial, 1 [RCV004001454] |
Chr19:11120158 [GRCh38]
Chr19:11230834 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2301G>A (p.Met767Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002442596]|Familial hypercholesterolemia [RCV000775614]|Hypercholesterolemia, familial, 1 [RCV004001455] |
Chr19:11123334 [GRCh38]
Chr19:11234010 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2319C>T (p.Gly773=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458390]|Familial hypercholesterolemia [RCV000775615]|Hypercholesterolemia, familial, 1 [RCV004001456] |
Chr19:11128015 [GRCh38]
Chr19:11238691 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2323G>A (p.Val775Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775616]|Hypercholesterolemia, familial, 1 [RCV004001457]|not provided [RCV003478469] |
Chr19:11128019 [GRCh38]
Chr19:11238695 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2389+13C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775618] |
Chr19:11128098 [GRCh38]
Chr19:11238774 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2416G>T (p.Val806Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775619]|Hypercholesterolemia, familial, 1 [RCV004001458] |
Chr19:11129539 [GRCh38]
Chr19:11240215 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2499G>T (p.Glu833Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775620] |
Chr19:11129622 [GRCh38]
Chr19:11240298 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2510A>G (p.His837Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004027290]|Familial hypercholesterolemia [RCV000775621]|Hypercholesterolemia, familial, 1 [RCV004001459]|not specified [RCV001192512] |
Chr19:11129633 [GRCh38]
Chr19:11240309 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.64G>T (p.Ala22Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775622]|Hypercholesterolemia, familial, 1 [RCV004001460] |
Chr19:11089612 [GRCh38]
Chr19:11200288 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1662G>A (p.Ser554=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397550]|Familial hypercholesterolemia [RCV000775683]|Hypercholesterolemia, familial, 1 [RCV004001462] |
Chr19:11116169 [GRCh38]
Chr19:11226845 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2577G>A (p.Val859=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775684]|Hypercholesterolemia, familial, 1 [RCV004001463] |
Chr19:11131310 [GRCh38]
Chr19:11241986 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2180T>A (p.Val727Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000774216]|Hypercholesterolemia, familial, 1 [RCV004001367] |
Chr19:11123213 [GRCh38]
Chr19:11233889 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1705+18C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002406702]|Familial hypercholesterolemia [RCV000776528] |
Chr19:11116230 [GRCh38]
Chr19:11226906 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.*19G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776530]|Hypercholesterolemia, familial, 1 [RCV001123141]|not specified [RCV003330946] |
Chr19:11131335 [GRCh38]
Chr19:11242011 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1713C>T (p.Leu571=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002397555]|Familial hypercholesterolemia [RCV000776585]|Hypercholesterolemia, familial, 1 [RCV004001475] |
Chr19:11116866 [GRCh38]
Chr19:11227542 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-122C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776607]|Hypercholesterolemia, familial, 1 [RCV004001478] |
Chr19:11089427 [GRCh38]
Chr19:11200103 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+13G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776611] |
Chr19:11113775 [GRCh38]
Chr19:11224451 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1186+3G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776613] |
Chr19:11111642 [GRCh38]
Chr19:11222318 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1533A>T (p.Leu511Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV004027297]|Familial hypercholesterolemia [RCV000776624] |
Chr19:11113709 [GRCh38]
Chr19:11224385 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2563C>A (p.Leu855Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772774]|Hypercholesterolemia, familial, 1 [RCV003999982] |
Chr19:11131296 [GRCh38]
Chr19:11241972 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.951A>G (p.Glu317=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000773373] |
Chr19:11110662 [GRCh38]
Chr19:11221338 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1957G>A (p.Val653Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000773556]|Hypercholesterolemia, familial, 1 [RCV004000021] |
Chr19:11120203 [GRCh38]
Chr19:11230879 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001830674]|not provided [RCV000996752]|not specified [RCV000781495] |
Chr19:11113590 [GRCh38]
Chr19:11224266 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2075C>G (p.Pro692Arg) |
single nucleotide variant |
not specified [RCV000781497] |
Chr19:11120457 [GRCh38]
Chr19:11231133 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.973T>C (p.Cys325Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772250]|Hypercholesterolemia, familial, 1 [RCV004017731] |
Chr19:11110684 [GRCh38]
Chr19:11221360 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2497G>A (p.Glu833Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772470] |
Chr19:11129620 [GRCh38]
Chr19:11240296 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.929T>A (p.Ile310Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776890] |
Chr19:11107503 [GRCh38]
Chr19:11218179 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2312-6C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776892] |
Chr19:11128002 [GRCh38]
Chr19:11238678 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.712C>G (p.Pro238Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776897] |
Chr19:11106582 [GRCh38]
Chr19:11217258 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.940+3G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776928] |
Chr19:11107517 [GRCh38]
Chr19:11218193 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.318C>G (p.Pro106=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000776992] |
Chr19:11105224 [GRCh38]
Chr19:11215900 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1281G>A (p.Arg427=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000774479] |
Chr19:11113372 [GRCh38]
Chr19:11224048 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.286G>A (p.Asp96Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000771620]|Hypercholesterolemia, familial, 1 [RCV002487579] |
Chr19:11102759 [GRCh38]
Chr19:11213435 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.922G>T (p.Glu308Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000777500]|Homozygous familial hypercholesterolemia [RCV004017734] |
Chr19:11107496 [GRCh38]
Chr19:11218172 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.59G>A (p.Gly20Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000777546]|Hypercholesterolemia, familial, 1 [RCV002227216] |
Chr19:11089607 [GRCh38]
Chr19:11200283 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.2508C>T (p.Val836=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000777548] |
Chr19:11129631 [GRCh38]
Chr19:11240307 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.30G>A (p.Trp10Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000771735]|Homozygous familial hypercholesterolemia [RCV004017730] |
Chr19:11089578 [GRCh38]
Chr19:11200254 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11105210)_(11107528_?)del |
deletion |
Familial hypercholesterolemia [RCV000815273] |
Chr19:11105210..11107528 [GRCh38]
Chr19:11215886..11218204 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1776G>C (p.Gly592=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772298] |
Chr19:11116929 [GRCh38]
Chr19:11227605 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.990T>A (p.Asn330Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772356] |
Chr19:11110701 [GRCh38]
Chr19:11221377 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1988-13T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772359] |
Chr19:11120357 [GRCh38]
Chr19:11231033 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2307C>T (p.His769=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000772367] |
Chr19:11123340 [GRCh38]
Chr19:11234016 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.186G>A (p.Thr62=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409066]|Familial hypercholesterolemia [RCV000868529]|Hypercholesterolemia, familial, 1 [RCV001122967]|not specified [RCV003330979] |
Chr19:11100341 [GRCh38]
Chr19:11211017 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1586+9C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001468936] |
Chr19:11113771 [GRCh38]
Chr19:11224447 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2208A>T (p.Val736=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741240] |
Chr19:11123241 [GRCh38]
Chr19:11233917 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1764C>T (p.Ile588=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399949]|Familial hypercholesterolemia [RCV000874122]|Hypercholesterolemia, familial, 1 [RCV004003094] |
Chr19:11116917 [GRCh38]
Chr19:11227593 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.1710C>T (p.Leu570=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399875]|Familial hypercholesterolemia [RCV000863839]|Hypercholesterolemia, familial, 1 [RCV004002939] |
Chr19:11116863 [GRCh38]
Chr19:11227539 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1869C>A (p.Ile623=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001392315]|Hypercholesterolemia, familial, 1 [RCV002479149] |
Chr19:11120115 [GRCh38]
Chr19:11230791 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1302G>A (p.Thr434=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381988]|Familial hypercholesterolemia [RCV000872640]|Hypercholesterolemia, familial, 1 [RCV004003082]|not specified [RCV003230602] |
Chr19:11113393 [GRCh38]
Chr19:11224069 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2472C>T (p.Asp824=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001447898]|Hypercholesterolemia, familial, 1 [RCV004003159] |
Chr19:11129595 [GRCh38]
Chr19:11240271 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1326C>T (p.Tyr442=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000924695]|Hypercholesterolemia, familial, 1 [RCV004003207] |
Chr19:11113417 [GRCh38]
Chr19:11224093 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1358+9C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV003372901]|Familial hypercholesterolemia [RCV000869744] |
Chr19:11113458 [GRCh38]
Chr19:11224134 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.694+9G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000775603]|not specified [RCV000780375] |
Chr19:11105609 [GRCh38]
Chr19:11216285 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer) |
microsatellite |
Familial hypercholesterolemia [RCV000776365]|Hypercholesterolemia, familial, 1 [RCV001255941] |
Chr19:11120380..11120381 [GRCh38]
Chr19:11231056..11231057 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.505_511del (p.Asn169fs) |
deletion |
Familial hypercholesterolemia [RCV000774354] |
Chr19:11105410..11105416 [GRCh38]
Chr19:11216086..11216092 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1230G>A (p.Arg410=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188242]|not specified [RCV000781496] |
Chr19:11113321 [GRCh38]
Chr19:11223997 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000793059]|Hypercholesterolemia, familial, 1 [RCV002501041] |
Chr19:11116924 [GRCh38]
Chr19:11227600 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1647dup (p.Val550fs) |
duplication |
Familial hypercholesterolemia [RCV000817361] |
Chr19:11116153..11116154 [GRCh38]
Chr19:11226829..11226830 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1408A>T (p.Ser470Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000822830] |
Chr19:11113584 [GRCh38]
Chr19:11224260 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NC_000019.10:g.11087732_11090710del |
deletion |
Hypercholesterolemia [RCV000855543] |
Chr19:11087730..11090708 [GRCh38]
Chr19:11198406..11201384 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+5G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV000819193] |
Chr19:11128090 [GRCh38]
Chr19:11238766 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1335C>G (p.Asp445Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000819259]|Hypercholesterolemia, familial, 1 [RCV002487822] |
Chr19:11113426 [GRCh38]
Chr19:11224102 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11110613)_(11111650_?)del |
deletion |
Familial hypercholesterolemia [RCV000823242] |
Chr19:11110613..11111650 [GRCh38]
Chr19:11221289..11222326 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1023del (p.Asp342fs) |
deletion |
Familial hypercholesterolemia [RCV000793373] |
Chr19:11110731 [GRCh38]
Chr19:11221407 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.31A>T (p.Thr11Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000797028] |
Chr19:11089579 [GRCh38]
Chr19:11200255 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11116084)_(11120608_?)del |
deletion |
Familial hypercholesterolemia [RCV000798829] |
Chr19:11116084..11120608 [GRCh38]
Chr19:11226760..11231284 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) |
indel |
Cardiovascular phenotype [RCV002427031]|Familial hypercholesterolemia [RCV000817968]|not provided [RCV001008217] |
Chr19:11102722 [GRCh38]
Chr19:11213398 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1574A>C (p.Asp525Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000791559] |
Chr19:11113750 [GRCh38]
Chr19:11224426 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.134T>G (p.Val45Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002298810]|not provided [RCV000985761] |
Chr19:11100289 [GRCh38]
Chr19:11210965 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11129503)_(11131359_?)del |
deletion |
Familial hypercholesterolemia [RCV000804613] |
Chr19:11129503..11131359 [GRCh38]
Chr19:11240179..11242035 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1987+2T>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV000822104] |
Chr19:11120235 [GRCh38]
Chr19:11230911 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.41T>A (p.Leu14Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000822108] |
Chr19:11089589 [GRCh38]
Chr19:11200265 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1459_1472dup (p.Asp492fs) |
duplication |
Familial hypercholesterolemia [RCV000796689] |
Chr19:11113633..11113634 [GRCh38]
Chr19:11224309..11224310 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11127998)_(11128095_?)del |
deletion |
Familial hypercholesterolemia [RCV000813322] |
Chr19:11127998..11128095 [GRCh38]
Chr19:11238674..11238771 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1988-17C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002538299]|not provided [RCV000840898] |
Chr19:11120353 [GRCh38]
Chr19:11231029 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.303G>A (p.Glu101=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001468929]|Hypercholesterolemia, familial, 1 [RCV004004370] |
Chr19:11102776 [GRCh38]
Chr19:11213452 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11100213)_(11117013_?)del |
deletion |
Familial hypercholesterolemia [RCV000820590] |
Chr19:11100213..11117013 [GRCh38]
Chr19:11210889..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1092C>A (p.Cys364Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000801309] |
Chr19:11111545 [GRCh38]
Chr19:11222221 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1382del (p.Gly461fs) |
deletion |
Familial hypercholesterolemia [RCV000801832]|not provided [RCV001256970] |
Chr19:11113557 [GRCh38]
Chr19:11224233 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1047G>A (p.Gln349=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179297]|not provided [RCV000996750] |
Chr19:11110758 [GRCh38]
Chr19:11221434 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11111504)_(11117013_?)del |
deletion |
Familial hypercholesterolemia [RCV000794137] |
Chr19:11111504..11117013 [GRCh38]
Chr19:11222180..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.926C>A (p.Pro309His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000850044] |
Chr19:11107500 [GRCh38]
Chr19:11218176 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1564A>C (p.Ile522Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000794617] |
Chr19:11113740 [GRCh38]
Chr19:11224416 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.9:g.(?_11230758)_(11240356_?)dup |
duplication |
Familial hypercholesterolemia [RCV000803276] |
Chr19:11120082..11129680 [GRCh38]
Chr19:11230758..11240356 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11100203)_(11107534_?)del |
deletion |
Familial hypercholesterolemia [RCV000806566] |
Chr19:11100203..11107534 [GRCh38]
Chr19:11210879..11218210 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11100213)_(11102796_?)del |
deletion |
Familial hypercholesterolemia [RCV000821295] |
Chr19:11100213..11102796 [GRCh38]
Chr19:11210889..11213472 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.694G>T (p.Ala232Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001213184]|Hypercholesterolemia, familial, 1 [RCV000850043] |
Chr19:11105600 [GRCh38]
Chr19:11216276 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NC_000019.10:g.(?_11120082)_(11120608_?)del |
deletion |
Familial hypercholesterolemia [RCV000810674] |
Chr19:11120082..11120608 [GRCh38]
Chr19:11230758..11231284 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1371C>T (p.Asp457=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180443] |
Chr19:11113547 [GRCh38]
Chr19:11224223 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11116849)_(11120608_?)del |
deletion |
Familial hypercholesterolemia [RCV000792775] |
Chr19:11116849..11120608 [GRCh38]
Chr19:11227525..11231284 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2397C>T (p.Leu799=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003372903]|Familial hypercholesterolemia [RCV001177601]|Hypercholesterolemia, familial, 1 [RCV004003103]|not provided [RCV003480889] |
Chr19:11129520 [GRCh38]
Chr19:11240196 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1357_1359-37del |
deletion |
Familial hypercholesterolemia [RCV000810973] |
Chr19:11113446..11113496 [GRCh38]
Chr19:11224122..11224172 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| Single allele |
deletion |
not provided [RCV000844961] |
Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.1987+2T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002422777]|Familial hypercholesterolemia [RCV000808927] |
Chr19:11120235 [GRCh38]
Chr19:11230911 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.605T>G (p.Phe202Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000800787] |
Chr19:11105511 [GRCh38]
Chr19:11216187 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-2038C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000845103] |
Chr19:11087511 [GRCh38]
Chr19:11198187 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.4:c.1988-2A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV000845104] |
|
pathogenic |
| NM_000527.5(LDLR):c.*803C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000845105] |
Chr19:11132119 [GRCh38]
Chr19:11242795 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.847A>T (p.Lys283Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000845106] |
Chr19:11107421 [GRCh38]
Chr19:11218097 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.10:g.(?_11100213)_(11107528_?)del |
deletion |
Familial hypercholesterolemia [RCV000805901] |
Chr19:11100213..11107528 [GRCh38]
Chr19:11210889..11218204 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1290C>T (p.Val430=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179953]|Hypercholesterolemia, familial, 1 [RCV004003071] |
Chr19:11113381 [GRCh38]
Chr19:11224057 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2370_2389+20del |
deletion |
Familial hypercholesterolemia [RCV000809786] |
Chr19:11128066..11128105 [GRCh38]
Chr19:11238742..11238781 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.684G>T (p.Glu228Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000850042] |
Chr19:11105590 [GRCh38]
Chr19:11216266 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.518G>C (p.Cys173Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000850041] |
Chr19:11105424 [GRCh38]
Chr19:11216100 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11116084)_(11131359_?)del |
deletion |
Familial hypercholesterolemia [RCV001031735] |
Chr19:11226760..11242035 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1846-8C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178750] |
Chr19:11120084 [GRCh38]
Chr19:11230760 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NC_000019.10:g.(?_11102654)_(11106697_?)del |
deletion |
Familial hypercholesterolemia [RCV001032769] |
Chr19:11213330..11217373 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1374_1382del (p.Arg458_Gly461delinsSer) |
deletion |
Familial hypercholesterolemia [RCV003742085] |
Chr19:11113549..11113557 [GRCh38]
Chr19:11224225..11224233 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1941G>A (p.Leu647=) |
single nucleotide variant |
not provided [RCV000996760] |
Chr19:11120187 [GRCh38]
Chr19:11230863 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1594T>A (p.Tyr532Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000850047] |
Chr19:11116101 [GRCh38]
Chr19:11226777 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1515C>T (p.Gly505=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391045]|Familial hypercholesterolemia [RCV003581767]|Hypercholesterolemia, familial, 1 [RCV004004412]|not provided [RCV000985763] |
Chr19:11113691 [GRCh38]
Chr19:11224367 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.2580G>A (p.Ala860=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454243]|Familial hypercholesterolemia [RCV001805963]|Hypercholesterolemia, familial, 1 [RCV004004440]|not provided [RCV000996762] |
Chr19:11131313 [GRCh38]
Chr19:11241989 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2138del (p.Thr713fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000850048] |
Chr19:11120520 [GRCh38]
Chr19:11231196 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1261A>G (p.Ser421Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000850046] |
Chr19:11113352 [GRCh38]
Chr19:11224028 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581734]|Hypercholesterolemia, familial, 1 [RCV000850045] |
Chr19:11110760 [GRCh38]
Chr19:11221436 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2146G>T (p.Glu716Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000845485] |
Chr19:11123179 [GRCh38]
Chr19:11233855 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.625T>G (p.Cys209Gly) |
single nucleotide variant |
not provided [RCV000845538] |
Chr19:11105531 [GRCh38]
Chr19:11216207 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.779_782del (p.Asp260fs) |
deletion |
Cardiovascular phenotype [RCV002409335]|not provided [RCV001009001] |
Chr19:11106647..11106650 [GRCh38]
Chr19:11217323..11217326 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2073G>A (p.Ser691=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416265]|Familial hypercholesterolemia [RCV001178328]|Hypercholesterolemia, familial, 1 [RCV004004413]|not provided [RCV000985765] |
Chr19:11120455 [GRCh38]
Chr19:11231131 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2359G>A (p.Val787Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181071]|Hypercholesterolemia, familial, 1 [RCV004003491]|not provided [RCV001509015] |
Chr19:11128055 [GRCh38]
Chr19:11238731 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1287G>T (p.Val429=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379702]|Familial hypercholesterolemia [RCV001182421] |
Chr19:11113378 [GRCh38]
Chr19:11224054 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV004031422]|Familial hypercholesterolemia [RCV001046025]|Hypercholesterolemia, familial, 1 [RCV002227241] |
Chr19:11106628 [GRCh38]
Chr19:11217304 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.-55_-52del |
deletion |
Familial hypercholesterolemia [RCV001182921]|Hypercholesterolemia, familial, 1 [RCV004008336] |
Chr19:11089494..11089497 [GRCh38]
Chr19:11200170..11200173 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.980A>C (p.His327Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001175869]|Hypercholesterolemia, familial, 1 [RCV001255944] |
Chr19:11110691 [GRCh38]
Chr19:11221367 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1631A>C (p.Lys544Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176186]|Hypercholesterolemia, familial, 1 [RCV002483948] |
Chr19:11116138 [GRCh38]
Chr19:11226814 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.371G>C (p.Arg124Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184434]|Hypercholesterolemia, familial, 1 [RCV004008461] |
Chr19:11105277 [GRCh38]
Chr19:11215953 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1613C>T (p.Thr538Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177675] |
Chr19:11116120 [GRCh38]
Chr19:11226796 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.597C>T (p.Ala199=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184967] |
Chr19:11105503 [GRCh38]
Chr19:11216179 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.46C>G (p.Leu16Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177803]|Hypercholesterolemia, familial, 1 [RCV002505759] |
Chr19:11089594 [GRCh38]
Chr19:11200270 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2148G>A (p.Glu716=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429802]|Familial hypercholesterolemia [RCV001178135] |
Chr19:11123181 [GRCh38]
Chr19:11233857 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1566C>T (p.Ile522=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003373007]|Familial hypercholesterolemia [RCV001178324]|Hypercholesterolemia, familial, 1 [RCV004006467] |
Chr19:11113742 [GRCh38]
Chr19:11224418 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-139_-130del |
deletion |
Familial hypercholesterolemia [RCV001178474] |
Chr19:11089409..11089418 [GRCh38]
Chr19:11200085..11200094 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.560_570del (p.Leu187fs) |
deletion |
Familial hypercholesterolemia [RCV001212591] |
Chr19:11105464..11105474 [GRCh38]
Chr19:11216140..11216150 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.580A>G (p.Ser194Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004002901]|not provided [RCV000845539] |
Chr19:11105486 [GRCh38]
Chr19:11216162 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1355G>T (p.Cys452Phe) |
single nucleotide variant |
not provided [RCV000845541] |
Chr19:11113446 [GRCh38]
Chr19:11224122 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2055_2068del (p.Gln686fs) |
deletion |
Cardiovascular phenotype [RCV003380891]|Familial hypercholesterolemia [RCV001217647] |
Chr19:11120433..11120446 [GRCh38]
Chr19:11231109..11231122 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.975_986del (p.Ser326_Cys329del) |
deletion |
Familial hypercholesterolemia [RCV001223659] |
Chr19:11110683..11110694 [GRCh38]
Chr19:11221359..11221370 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.385G>A (p.Asp129Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001238533] |
Chr19:11105291 [GRCh38]
Chr19:11215967 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1888A>G (p.Ser630Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181703]|not provided [RCV003478713] |
Chr19:11120134 [GRCh38]
Chr19:11230810 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181907]|Hypercholesterolemia, familial, 1 [RCV002505770] |
Chr19:11120400 [GRCh38]
Chr19:11231076 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.974G>C (p.Cys325Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169526]|not provided [RCV000985773] |
Chr19:11110685 [GRCh38]
Chr19:11221361 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 19p13.2(chr19:11233850-11242283)x1 |
copy number loss |
not provided [RCV003312461] |
Chr19:11233850..11242283 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2165A>G (p.Gln722Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000845552]|not provided [RCV003478524] |
Chr19:11123198 [GRCh38]
Chr19:11233874 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1369C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001126997] |
Chr19:11132685 [GRCh38]
Chr19:11243361 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1377G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001126998] |
Chr19:11132693 [GRCh38]
Chr19:11243369 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1393C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001126999] |
Chr19:11132709 [GRCh38]
Chr19:11243385 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2391G>C (p.Val797=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179828]|Hypercholesterolemia, familial, 1 [RCV001127209] |
Chr19:11129514 [GRCh38]
Chr19:11240190 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*2004C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124431] |
Chr19:11133320 [GRCh38]
Chr19:11243996 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.936G>T (p.Glu312Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176933] |
Chr19:11107510 [GRCh38]
Chr19:11218186 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1533A>G (p.Leu511=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184386] |
Chr19:11113709 [GRCh38]
Chr19:11224385 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.818-15C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002429801]|Familial hypercholesterolemia [RCV001177600] |
Chr19:11107377 [GRCh38]
Chr19:11218053 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000527.5(LDLR):c.795C>T (p.Ser265=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418612]|Familial hypercholesterolemia [RCV001177672]|Hypercholesterolemia, familial, 1 [RCV004006400] |
Chr19:11106665 [GRCh38]
Chr19:11217341 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.695-10T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184969]|Hypercholesterolemia, familial, 1 [RCV004008500] |
Chr19:11106555 [GRCh38]
Chr19:11217231 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.817+5G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184972]|Hypercholesterolemia, familial, 1 [RCV004008503] |
Chr19:11106692 [GRCh38]
Chr19:11217368 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.672C>G (p.Asp224Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001863055]|not specified [RCV001193183] |
Chr19:11105578 [GRCh38]
Chr19:11216254 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.*223G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001123142] |
Chr19:11131539 [GRCh38]
Chr19:11242215 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*287C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001123143] |
Chr19:11131603 [GRCh38]
Chr19:11242279 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1130A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001123238] |
Chr19:11132446 [GRCh38]
Chr19:11243122 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1490del (p.Thr497fs) |
deletion |
Familial hypercholesterolemia [RCV001047047] |
Chr19:11113666 [GRCh38]
Chr19:11224342 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1819C>G (p.His607Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003110195] |
Chr19:11116972 [GRCh38]
Chr19:11227648 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1225G>A (p.Val409Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV004288143] |
Chr19:11113316 [GRCh38]
Chr19:11223992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2390-10C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001498504] |
Chr19:11129503 [GRCh38]
Chr19:11240179 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.72C>T (p.Gly24=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169358]|Familial hypercholesterolemia [RCV000932312]|Hypercholesterolemia, familial, 1 [RCV004003245] |
Chr19:11100227 [GRCh38]
Chr19:11210903 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.735T>C (p.Asp245=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000944852] |
Chr19:11106605 [GRCh38]
Chr19:11217281 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1038G>A (p.Leu346=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390944]|Familial hypercholesterolemia [RCV001189126]|Hypercholesterolemia, familial, 1 [RCV004003233]|LDLR-related condition [RCV003970570]|not provided [RCV000930961] |
Chr19:11110749 [GRCh38]
Chr19:11221425 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2496A>G (p.Thr832=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427411]|Familial hypercholesterolemia [RCV000977159] |
Chr19:11129619 [GRCh38]
Chr19:11240295 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1692T>C (p.Asn564=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV000977176]|Hypercholesterolemia, familial, 1 [RCV004004378]|not provided [RCV003736948] |
Chr19:11116199 [GRCh38]
Chr19:11226875 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1263C>T (p.Ser421=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002066416]|Hypercholesterolemia, familial, 1 [RCV004004365] |
Chr19:11113354 [GRCh38]
Chr19:11224030 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2389+10G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001272183] |
Chr19:11128095 [GRCh38]
Chr19:11238771 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.432G>A (p.Pro144=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002332800]|Familial hypercholesterolemia [RCV000867117]|Hypercholesterolemia, familial, 1 [RCV004002993] |
Chr19:11105338 [GRCh38]
Chr19:11216014 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.717C>T (p.Asp239=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372441]|Familial hypercholesterolemia [RCV001426879]|Hypercholesterolemia, familial, 1 [RCV004003006] |
Chr19:11106587 [GRCh38]
Chr19:11217263 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1187-7C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001480108] |
Chr19:11113271 [GRCh38]
Chr19:11223947 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1179G>A (p.Lys393=) |
single nucleotide variant |
not provided [RCV000924701] |
Chr19:11111632 [GRCh38]
Chr19:11222308 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1663C>A (p.Leu555Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001185673] |
Chr19:11116170 [GRCh38]
Chr19:11226846 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.816T>C (p.Asn272=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001185853] |
Chr19:11106686 [GRCh38]
Chr19:11217362 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11110613)_(11117013_?)del |
deletion |
Familial hypercholesterolemia [RCV001032276] |
Chr19:11221289..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1995C>T (p.Asn665=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186983] |
Chr19:11120377 [GRCh38]
Chr19:11231053 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2195G>C (p.Ser732Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179824]|Hypercholesterolemia, familial, 1 [RCV004006607] |
Chr19:11123228 [GRCh38]
Chr19:11233904 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2373C>T (p.Ser791=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445424]|Familial hypercholesterolemia [RCV001179827]|Hypercholesterolemia, familial, 1 [RCV002491521] |
Chr19:11128069 [GRCh38]
Chr19:11238745 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2418C>A (p.Val806=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179829]|Hypercholesterolemia, familial, 1 [RCV004006609]|not provided [RCV001586024] |
Chr19:11129541 [GRCh38]
Chr19:11240217 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1683G>A (p.Gln561=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003163454]|Familial hypercholesterolemia [RCV001187152]|Hypercholesterolemia, familial, 1 [RCV004008676] |
Chr19:11116190 [GRCh38]
Chr19:11226866 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2239C>T (p.Pro747Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179938] |
Chr19:11123272 [GRCh38]
Chr19:11233948 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1190C>T (p.Ser397Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001187445] |
Chr19:11113281 [GRCh38]
Chr19:11223957 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*716C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001126905] |
Chr19:11132032 [GRCh38]
Chr19:11242708 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2239C>A (p.Pro747Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176057]|Hypercholesterolemia, familial, 1 [RCV004000317] |
Chr19:11123272 [GRCh38]
Chr19:11233948 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.-23A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183432]|Hypercholesterolemia, familial, 1 [RCV004008382] |
Chr19:11089526 [GRCh38]
Chr19:11200202 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1845+11C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188070] |
Chr19:11117009 [GRCh38]
Chr19:11227685 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*849A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127317] |
Chr19:11132165 [GRCh38]
Chr19:11242841 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*965C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127318] |
Chr19:11132281 [GRCh38]
Chr19:11242957 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*966G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127319] |
Chr19:11132282 [GRCh38]
Chr19:11242958 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*995G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127320] |
Chr19:11132311 [GRCh38]
Chr19:11242987 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.962A>G (p.Asn321Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188262] |
Chr19:11110673 [GRCh38]
Chr19:11221349 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.42G>C (p.Leu14Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188426] |
Chr19:11089590 [GRCh38]
Chr19:11200266 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1516G>C (p.Val506Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188576] |
Chr19:11113692 [GRCh38]
Chr19:11224368 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1145G>A (p.Gly382Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188805] |
Chr19:11111598 [GRCh38]
Chr19:11222274 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV004033388]|Familial hypercholesterolemia [RCV001188886]|Hypercholesterolemia, familial, 1 [RCV002279968]|not provided [RCV001812241]|not specified [RCV001193792] |
Chr19:11123284 [GRCh38]
Chr19:11233960 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1006T>G (p.Tyr336Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001213019] |
Chr19:11110717 [GRCh38]
Chr19:11221393 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189125]|Hypercholesterolemia, familial, 1 [RCV003318667] |
Chr19:11110714 [GRCh38]
Chr19:11221390 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1254G>A (p.Glu418=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189129] |
Chr19:11113345 [GRCh38]
Chr19:11224021 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189130]|Hypercholesterolemia, familial, 1 [RCV004010342]|not specified [RCV003396798] |
Chr19:11113354 [GRCh38]
Chr19:11224030 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1359-10C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189131]|Hypercholesterolemia, familial, 1 [RCV004010343] |
Chr19:11113525 [GRCh38]
Chr19:11224201 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189133] |
Chr19:11113542 [GRCh38]
Chr19:11224218 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1392C>T (p.Ser464=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189134]|Hypercholesterolemia, familial, 1 [RCV004010344] |
Chr19:11113568 [GRCh38]
Chr19:11224244 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1040A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001123237] |
Chr19:11132356 [GRCh38]
Chr19:11243032 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.788A>G (p.Asp263Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411863]|Familial hypercholesterolemia [RCV001233913]|Hypercholesterolemia, familial, 1 [RCV001450038] |
Chr19:11106658 [GRCh38]
Chr19:11217334 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2178C>A (p.Thr726=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184114]|Hypercholesterolemia, familial, 1 [RCV004008433] |
Chr19:11123211 [GRCh38]
Chr19:11233887 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1127A>T (p.Lys376Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184127] |
Chr19:11111580 [GRCh38]
Chr19:11222256 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-97G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178894]|Hypercholesterolemia, familial, 1 [RCV001128656] |
Chr19:11089452 [GRCh38]
Chr19:11200128 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.791del (p.Met264fs) |
deletion |
Familial hypercholesterolemia [RCV001234236] |
Chr19:11106661 [GRCh38]
Chr19:11217337 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2480T>A (p.Val827Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001237054]|Hypercholesterolemia, familial, 1 [RCV002227256] |
Chr19:11129603 [GRCh38]
Chr19:11240279 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.67+5G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177669] |
Chr19:11089620 [GRCh38]
Chr19:11200296 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.438C>A (p.Leu146=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327442]|Familial hypercholesterolemia [RCV001184963]|Hypercholesterolemia, familial, 1 [RCV004008499] |
Chr19:11105344 [GRCh38]
Chr19:11216020 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1473C>G (p.Thr491=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003163396]|Familial hypercholesterolemia [RCV001177732]|Hypercholesterolemia, familial, 1 [RCV004006404] |
Chr19:11113649 [GRCh38]
Chr19:11224325 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.191-3T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189541] |
Chr19:11102661 [GRCh38]
Chr19:11213337 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1615C>T (p.Pro539Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189598] |
Chr19:11116122 [GRCh38]
Chr19:11226798 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.581del (p.Ser194fs) |
deletion |
Cardiovascular phenotype [RCV002356967]|Familial hypercholesterolemia [RCV001227765] |
Chr19:11105487 [GRCh38]
Chr19:11216163 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1739C>G (p.Ser580Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180901] |
Chr19:11116892 [GRCh38]
Chr19:11227568 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1522A>T (p.Arg508Trp) |
single nucleotide variant |
not specified [RCV001192514] |
Chr19:11113698 [GRCh38]
Chr19:11224374 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.639C>G (p.Ser213Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189870] |
Chr19:11105545 [GRCh38]
Chr19:11216221 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.125A>G (p.Tyr42Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189924] |
Chr19:11100280 [GRCh38]
Chr19:11210956 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.694+6G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190064] |
Chr19:11105606 [GRCh38]
Chr19:11216282 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.807C>T (p.Gly269=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190106] |
Chr19:11106677 [GRCh38]
Chr19:11217353 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-102A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190223] |
Chr19:11089447 [GRCh38]
Chr19:11200123 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.565G>C (p.Val189Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004033404]|Familial hypercholesterolemia [RCV001190233]|Hypercholesterolemia, familial, 1 [RCV002491571] |
Chr19:11105471 [GRCh38]
Chr19:11216147 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.593C>T (p.Ser198Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190234] |
Chr19:11105499 [GRCh38]
Chr19:11216175 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11116849)_(11117013_?)del |
deletion |
Familial hypercholesterolemia [RCV001033037] |
Chr19:11227525..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1772_1773inv (p.Asn591Ser) |
inversion |
Familial hypercholesterolemia [RCV001178399] |
Chr19:11116925..11116926 [GRCh38]
Chr19:11227601..11227602 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1654A>G (p.Ile552Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001836130]|Hypercholesterolemia, familial, 1 [RCV004010606]|not specified [RCV001193790] |
Chr19:11116161 [GRCh38]
Chr19:11226837 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2540A>C (p.Tyr847Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190365] |
Chr19:11129663 [GRCh38]
Chr19:11240339 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1845+5G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190613] |
Chr19:11117003 [GRCh38]
Chr19:11227679 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1961G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124430] |
Chr19:11133277 [GRCh38]
Chr19:11243953 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2307C>G (p.His769Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182969]|Hypercholesterolemia, familial, 1 [RCV004008339]|not provided [RCV001847185] |
Chr19:11123340 [GRCh38]
Chr19:11234016 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.147C>T (p.Ser49=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393423]|Familial hypercholesterolemia [RCV001186036]|Hypercholesterolemia, familial, 1 [RCV004008573]|not specified [RCV003323808] |
Chr19:11100302 [GRCh38]
Chr19:11210978 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1845+6G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190749] |
Chr19:11117004 [GRCh38]
Chr19:11227680 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.792G>A (p.Met264Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190779] |
Chr19:11106662 [GRCh38]
Chr19:11217338 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2350C>T (p.Pro784Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176372] |
Chr19:11128046 [GRCh38]
Chr19:11238722 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2004G>A (p.Glu668=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186131] |
Chr19:11120386 [GRCh38]
Chr19:11231062 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1795T>C (p.Leu599=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178907] |
Chr19:11116948 [GRCh38]
Chr19:11227624 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178947] |
Chr19:11116153 [GRCh38]
Chr19:11226829 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1649T>G (p.Val550Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178962] |
Chr19:11116156 [GRCh38]
Chr19:11226832 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.636C>T (p.Ser212=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179046] |
Chr19:11105542 [GRCh38]
Chr19:11216218 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.68-4T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191017] |
Chr19:11100219 [GRCh38]
Chr19:11210895 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2022T>C (p.Asn674=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191021]|Hypercholesterolemia, familial, 1 [RCV002504210] |
Chr19:11120404 [GRCh38]
Chr19:11231080 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191079]|Hypercholesterolemia, familial, 1 [RCV002480636]|not provided [RCV002224017]|not specified [RCV003235489] |
Chr19:11106630 [GRCh38]
Chr19:11217306 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000019.10:g.(?_11116084)_(11116222_?)del |
deletion |
Familial hypercholesterolemia [RCV001031556] |
Chr19:11226760..11226898 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.462G>C (p.Gln154His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191508] |
Chr19:11105368 [GRCh38]
Chr19:11216044 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2179G>A (p.Val727Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191575]|Hypercholesterolemia, familial, 1 [RCV004010525] |
Chr19:11123212 [GRCh38]
Chr19:11233888 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2283G>A (p.Thr761=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191576]|Hypercholesterolemia, familial, 1 [RCV004010526] |
Chr19:11123316 [GRCh38]
Chr19:11233992 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.650A>G (p.Asp217Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191675] |
Chr19:11105556 [GRCh38]
Chr19:11216232 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.68-8T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177643] |
Chr19:11100215 [GRCh38]
Chr19:11210891 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.153G>C (p.Glu51Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184960] |
Chr19:11100308 [GRCh38]
Chr19:11210984 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.190T>C (p.Leu64=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184961] |
Chr19:11100345 [GRCh38]
Chr19:11211021 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NC_000019.10:g.(?_11110613)_(11117013_?)dup |
duplication |
Familial hypercholesterolemia [RCV001031793] |
Chr19:11221289..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.695-9G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186647] |
Chr19:11106556 [GRCh38]
Chr19:11217232 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.427T>A (p.Cys143Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV004033034]|Familial hypercholesterolemia [RCV001179446] |
Chr19:11105333 [GRCh38]
Chr19:11216009 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1632A>G (p.Lys544=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179493]|Hypercholesterolemia, familial, 1 [RCV004006568] |
Chr19:11116139 [GRCh38]
Chr19:11226815 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.658C>T (p.Pro220Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186768]|Hypercholesterolemia, familial, 1 [RCV002497648] |
Chr19:11105564 [GRCh38]
Chr19:11216240 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.574G>C (p.Gly192Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001228115]|Hypercholesterolemia, familial, 1 [RCV004004820] |
Chr19:11105480 [GRCh38]
Chr19:11216156 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2512A>G (p.Ile838Val) |
single nucleotide variant |
not provided [RCV000985767] |
Chr19:11129635 [GRCh38]
Chr19:11240311 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.202T>G (p.Cys68Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001066278] |
Chr19:11102675 [GRCh38]
Chr19:11213351 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.979del (p.His327fs) |
deletion |
Cardiovascular phenotype [RCV002379706]|Familial hypercholesterolemia [RCV001183115] |
Chr19:11110688 [GRCh38]
Chr19:11221364 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1187-11C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176557]|Hypercholesterolemia, familial, 1 [RCV004006308] |
Chr19:11113267 [GRCh38]
Chr19:11223943 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.406G>A (p.Asp136Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320411]|Familial hypercholesterolemia [RCV001184282] |
Chr19:11105312 [GRCh38]
Chr19:11215988 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.292G>T (p.Gly98Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001122968] |
Chr19:11102765 [GRCh38]
Chr19:11213441 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1707T>G (p.Asp569Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001123062] |
Chr19:11116860 [GRCh38]
Chr19:11227536 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1929T>C (p.Ala643=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180386] |
Chr19:11120175 [GRCh38]
Chr19:11230851 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.694G>A (p.Ala232Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177671] |
Chr19:11105600 [GRCh38]
Chr19:11216276 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.369T>G (p.Ser123=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184962] |
Chr19:11105275 [GRCh38]
Chr19:11215951 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.695-3C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184970]|Hypercholesterolemia, familial, 1 [RCV004008501]|not specified [RCV002249767] |
Chr19:11106562 [GRCh38]
Chr19:11217238 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*1561C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001123345] |
Chr19:11132877 [GRCh38]
Chr19:11243553 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.109G>A (p.Gly37Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001187877]|Hypercholesterolemia, familial, 1 [RCV004008745] |
Chr19:11100264 [GRCh38]
Chr19:11210940 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1890T>G (p.Ser630Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001185135] |
Chr19:11120136 [GRCh38]
Chr19:11230812 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1187G>T (p.Gly396Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001185364]|Hypercholesterolemia, familial, 1 [RCV002484013] |
Chr19:11113278 [GRCh38]
Chr19:11223954 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2138C>G (p.Thr713Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188277] |
Chr19:11120520 [GRCh38]
Chr19:11231196 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1926G>A (p.Leu642=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188516] |
Chr19:11120172 [GRCh38]
Chr19:11230848 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1776G>T (p.Gly592=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188569] |
Chr19:11116929 [GRCh38]
Chr19:11227605 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.399C>T (p.Asp133=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002375088]|Familial hypercholesterolemia [RCV001185476]|Hypercholesterolemia, familial, 1 [RCV004008535]|not provided [RCV001200615] |
Chr19:11105305 [GRCh38]
Chr19:11215981 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.242G>A (p.Arg81His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001185506]|Hypercholesterolemia, familial, 1 [RCV003318666] |
Chr19:11102715 [GRCh38]
Chr19:11213391 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2382C>G (p.Leu794=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451384]|Familial hypercholesterolemia [RCV001185533]|Hypercholesterolemia, familial, 1 [RCV004008537] |
Chr19:11128078 [GRCh38]
Chr19:11238754 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.274del (p.Gln92fs) |
deletion |
Familial hypercholesterolemia [RCV001193184] |
Chr19:11102746 [GRCh38]
Chr19:11213422 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.340T>A (p.Phe114Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451333]|Hypercholesterolemia, familial, 1 [RCV001124033] |
Chr19:11105246 [GRCh38]
Chr19:11215922 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1863A>G (p.Thr621=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003293889]|Familial hypercholesterolemia [RCV001188380]|Hypercholesterolemia, familial, 1 [RCV001124132] |
Chr19:11120109 [GRCh38]
Chr19:11230785 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*517C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124226] |
Chr19:11131833 [GRCh38]
Chr19:11242509 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1359-14T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188732] |
Chr19:11113521 [GRCh38]
Chr19:11224197 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-115T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188746]|Hypercholesterolemia, familial, 1 [RCV004010303] |
Chr19:11089434 [GRCh38]
Chr19:11200110 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.145A>C (p.Ser49Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189028] |
Chr19:11100300 [GRCh38]
Chr19:11210976 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393393]|Familial hypercholesterolemia [RCV001178322]|Hypercholesterolemia, familial, 1 [RCV004006466] |
Chr19:11113672 [GRCh38]
Chr19:11224348 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1587-10C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178325] |
Chr19:11116084 [GRCh38]
Chr19:11226760 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1987+6G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178327] |
Chr19:11120239 [GRCh38]
Chr19:11230915 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.2205C>T (p.Ala735=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429804]|Familial hypercholesterolemia [RCV001178329]|Hypercholesterolemia, familial, 1 [RCV004006468] |
Chr19:11123238 [GRCh38]
Chr19:11233914 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2315T>C (p.Leu772Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178332]|not provided [RCV002511051] |
Chr19:11128011 [GRCh38]
Chr19:11238687 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.688A>G (p.Asn230Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001185660]|Hypercholesterolemia, familial, 1 [RCV004008547] |
Chr19:11105594 [GRCh38]
Chr19:11216270 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.940+4A>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189122]|Hypercholesterolemia, familial, 1 [RCV004010339] |
Chr19:11107518 [GRCh38]
Chr19:11218194 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.941-5C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189123]|Hypercholesterolemia, familial, 1 [RCV004010340]|not specified [RCV001779131] |
Chr19:11110647 [GRCh38]
Chr19:11221323 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.966C>A (p.Asn322Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189124] |
Chr19:11110677 [GRCh38]
Chr19:11221353 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1162C>A (p.His388Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189127]|Hypercholesterolemia, familial, 1 [RCV004010341] |
Chr19:11111615 [GRCh38]
Chr19:11222291 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1188C>T (p.Gly396=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189128] |
Chr19:11113279 [GRCh38]
Chr19:11223955 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2140+86C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189369] |
Chr19:11120608 [GRCh38]
Chr19:11231284 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs) |
microsatellite |
Familial hypercholesterolemia [RCV003741252]|Hypercholesterolemia, familial, 1 [RCV001253134] |
Chr19:11120148..11120149 [GRCh38]
Chr19:11230824..11230825 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2291T>G (p.Ile764Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178496] |
Chr19:11123324 [GRCh38]
Chr19:11234000 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.759G>A (p.Arg253=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178728] |
Chr19:11106629 [GRCh38]
Chr19:11217305 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1987+5G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178788] |
Chr19:11120238 [GRCh38]
Chr19:11230914 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1187-7C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177673] |
Chr19:11113271 [GRCh38]
Chr19:11223947 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.480C>T (p.Cys160=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184964] |
Chr19:11105386 [GRCh38]
Chr19:11216062 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.620G>A (p.Gly207Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184968] |
Chr19:11105526 [GRCh38]
Chr19:11216202 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-133C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177895] |
Chr19:11089416 [GRCh38]
Chr19:11200092 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.899G>A (p.Arg300Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186120]|Hypercholesterolemia, familial, 1 [RCV002505786] |
Chr19:11107473 [GRCh38]
Chr19:11218149 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1060+10_1060+11delinsCA |
indel |
Familial hypercholesterolemia [RCV001186165] |
Chr19:11110781..11110782 [GRCh38]
Chr19:11221457..11221458 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.677_681dup (p.Glu228fs) |
duplication |
Familial hypercholesterolemia [RCV001178884] |
Chr19:11105582..11105583 [GRCh38]
Chr19:11216258..11216259 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1736A>T (p.Asp579Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001000106] |
Chr19:11116889 [GRCh38]
Chr19:11227565 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1564A>G (p.Ile522Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178323] |
Chr19:11113740 [GRCh38]
Chr19:11224416 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2265C>T (p.Ala755=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178330]|Hypercholesterolemia, familial, 1 [RCV004006469] |
Chr19:11123298 [GRCh38]
Chr19:11233974 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2561G>C (p.Ser854Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001189873] |
Chr19:11131294 [GRCh38]
Chr19:11241970 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190237]|Hypercholesterolemia, familial, 1 [RCV002504206]|not provided [RCV003478725] |
Chr19:11106640 [GRCh38]
Chr19:11217316 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.469_470dup (p.Ser157fs) |
duplication |
Familial hypercholesterolemia [RCV001044006] |
Chr19:11105374..11105375 [GRCh38]
Chr19:11216050..11216051 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.122C>T (p.Ser41Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179044] |
Chr19:11100277 [GRCh38]
Chr19:11210953 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.547C>T (p.Arg183Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179045] |
Chr19:11105453 [GRCh38]
Chr19:11216129 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1954A>T (p.Met652Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001190740]|Hypercholesterolemia, familial, 1 [RCV002504209] |
Chr19:11120200 [GRCh38]
Chr19:11230876 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NR_163945.1(LDLR-AS1):n.316C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186394] |
Chr19:11089344 [GRCh38]
Chr19:11200020 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1786A>G (p.Lys596Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179174] |
Chr19:11116939 [GRCh38]
Chr19:11227615 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.293G>C (p.Gly98Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179200] |
Chr19:11102766 [GRCh38]
Chr19:11213442 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.924A>G (p.Glu308=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179213] |
Chr19:11107498 [GRCh38]
Chr19:11218174 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1061-9C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001175747] |
Chr19:11111505 [GRCh38]
Chr19:11222181 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1008C>T (p.Tyr336=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003163390]|Familial hypercholesterolemia [RCV001176045]|Hypercholesterolemia, familial, 1 [RCV004000316] |
Chr19:11110719 [GRCh38]
Chr19:11221395 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) |
indel |
Familial hypercholesterolemia [RCV001183380] |
Chr19:11105276..11105277 [GRCh38]
Chr19:11215952..11215953 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-97G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191165]|Hypercholesterolemia, familial, 1 [RCV004010487] |
Chr19:11089452 [GRCh38]
Chr19:11200128 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2124GAG[1] (p.Arg709del) |
microsatellite |
Familial hypercholesterolemia [RCV001184678] |
Chr19:11120506..11120508 [GRCh38]
Chr19:11231182..11231184 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2100C>T (p.Asp700=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181564]|Hypercholesterolemia, familial, 1 [RCV001126805] |
Chr19:11120482 [GRCh38]
Chr19:11231158 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.501C>T (p.Cys167=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339454]|Familial hypercholesterolemia [RCV001181334]|Hypercholesterolemia, familial, 1 [RCV004006734] |
Chr19:11105407 [GRCh38]
Chr19:11216083 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.67+6G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186592] |
Chr19:11089621 [GRCh38]
Chr19:11200297 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.54G>C (p.Ala18=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186611] |
Chr19:11089602 [GRCh38]
Chr19:11200278 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.776A>C (p.Tyr259Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001185713] |
Chr19:11106646 [GRCh38]
Chr19:11217322 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001185716] |
Chr19:11113716 [GRCh38]
Chr19:11224392 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.970G>T (p.Gly324Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178539]|Hypercholesterolemia, familial, 1 [RCV002227253] |
Chr19:11110681 [GRCh38]
Chr19:11221357 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn) |
indel |
Familial hypercholesterolemia [RCV001191328]|not specified [RCV001797825] |
Chr19:11113589..11113590 [GRCh38]
Chr19:11224265..11224266 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-120C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191402] |
Chr19:11089429 [GRCh38]
Chr19:11200105 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.547C>A (p.Arg183Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191488]|Hypercholesterolemia, familial, 1 [RCV002484050] |
Chr19:11105453 [GRCh38]
Chr19:11216129 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1160C>T (p.Pro387Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127091] |
Chr19:11111613 [GRCh38]
Chr19:11222289 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1761C>T (p.Ser587=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411685]|Familial hypercholesterolemia [RCV001181563]|Hypercholesterolemia, familial, 1 [RCV004006745] |
Chr19:11116914 [GRCh38]
Chr19:11227590 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-169G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181591] |
Chr19:11089380 [GRCh38]
Chr19:11200056 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1180G>T (p.Ala394Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181687] |
Chr19:11111633 [GRCh38]
Chr19:11222309 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-94G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186707]|Hypercholesterolemia, familial, 1 [RCV004008625] |
Chr19:11089455 [GRCh38]
Chr19:11200131 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.27C>T (p.Arg9=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001186776] |
Chr19:11089575 [GRCh38]
Chr19:11200251 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1368T>A (p.Leu456=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179540]|Hypercholesterolemia, familial, 1 [RCV004006573] |
Chr19:11113544 [GRCh38]
Chr19:11224220 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1010A>G (p.Glu337Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180000] |
Chr19:11110721 [GRCh38]
Chr19:11221397 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.1164C>T (p.His388=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001191968]|Hypercholesterolemia, familial, 1 [RCV004010555] |
Chr19:11111617 [GRCh38]
Chr19:11222293 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1558C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127424] |
Chr19:11132874 [GRCh38]
Chr19:11243550 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11102654)_(11107528_?)del |
deletion |
Familial hypercholesterolemia [RCV001031790] |
Chr19:11213330..11218204 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.496G>A (p.Ala166Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181925]|Hypercholesterolemia, familial, 1 [RCV001255942] |
Chr19:11105402 [GRCh38]
Chr19:11216078 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402537]|Familial hypercholesterolemia [RCV001179615]|Hypercholesterolemia, familial, 1 [RCV004006583]|not provided [RCV002223995] |
Chr19:11113751 [GRCh38]
Chr19:11224427 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1489A>G (p.Thr497Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182893] |
Chr19:11113665 [GRCh38]
Chr19:11224341 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2440C>A (p.Arg814=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001192296] |
Chr19:11129563 [GRCh38]
Chr19:11240239 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176724] |
Chr19:11131317 [GRCh38]
Chr19:11241993 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1234A>T (p.Met412Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176919]|Hypercholesterolemia, familial, 1 [RCV002480592] |
Chr19:11113325 [GRCh38]
Chr19:11224001 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1169A>G (p.Lys390Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184447] |
Chr19:11111622 [GRCh38]
Chr19:11222298 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.663C>G (p.Asp221Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182114] |
Chr19:11105569 [GRCh38]
Chr19:11216245 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2123T>C (p.Met708Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179823]|Hypercholesterolemia, familial, 1 [RCV004006606] |
Chr19:11120505 [GRCh38]
Chr19:11231181 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2328T>C (p.Ala776=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445423]|Familial hypercholesterolemia [RCV001179825]|Hypercholesterolemia, familial, 1 [RCV004006608] |
Chr19:11128024 [GRCh38]
Chr19:11238700 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2347A>C (p.Lys783Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179826] |
Chr19:11128043 [GRCh38]
Chr19:11238719 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379705]|Familial hypercholesterolemia [RCV001182968]|Hypercholesterolemia, familial, 1 [RCV002491531] |
Chr19:11100228 [GRCh38]
Chr19:11210904 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NR_163945.1(LDLR-AS1):n.328G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183583] |
Chr19:11089332 [GRCh38]
Chr19:11200008 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184538]|Hypercholesterolemia, familial, 1 [RCV002491540] |
Chr19:11111591 [GRCh38]
Chr19:11222267 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.121T>A (p.Ser41Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001122966] |
Chr19:11100276 [GRCh38]
Chr19:11210952 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.543G>A (p.Pro181=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001184965]|Hypercholesterolemia, familial, 1 [RCV001124034] |
Chr19:11105449 [GRCh38]
Chr19:11216125 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1264C>T (p.Leu422Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001179919] |
Chr19:11113355 [GRCh38]
Chr19:11224031 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1194C>A (p.Ile398=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001187469] |
Chr19:11113285 [GRCh38]
Chr19:11223961 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1173G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124341] |
Chr19:11132489 [GRCh38]
Chr19:11243165 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*2111G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124432] |
Chr19:11133427 [GRCh38]
Chr19:11244103 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.45C>T (p.Leu15=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180281] |
Chr19:11089593 [GRCh38]
Chr19:11200269 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001034790] |
Chr19:11128062 [GRCh38]
Chr19:11238738 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2013C>T (p.Thr671=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181163] |
Chr19:11120395 [GRCh38]
Chr19:11231071 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2268C>T (p.Thr756=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181889] |
Chr19:11123301 [GRCh38]
Chr19:11233977 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NR_163945.1(LDLR-AS1):n.308C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181758]|Hypercholesterolemia, familial, 1 [RCV004006761] |
Chr19:11089352 [GRCh38]
Chr19:11200028 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.10:g.(?_11102654)_(11102796_?)del |
deletion |
Familial hypercholesterolemia [RCV001033176] |
Chr19:11213330..11213472 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.10:g.(?_11113268)_(11117013_?)dup |
duplication |
Familial hypercholesterolemia [RCV001033251] |
Chr19:11223944..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1359-26G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001181950] |
Chr19:11113509 [GRCh38]
Chr19:11224185 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.948C>G (p.Asn316Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182180] |
Chr19:11110659 [GRCh38]
Chr19:11221335 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11089282)_(11100355_?)del |
deletion |
Familial hypercholesterolemia [RCV001033825] |
Chr19:11199958..11211031 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.181G>T (p.Glu61Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001594480] |
Chr19:11100336 [GRCh38]
Chr19:11211012 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1773_1776delinsT (p.Gly593del) |
indel |
Familial hypercholesterolemia [RCV001046157] |
Chr19:11116926..11116929 [GRCh38]
Chr19:11227602..11227605 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.883del (p.Val295fs) |
deletion |
Familial hypercholesterolemia [RCV001218715] |
Chr19:11107457 [GRCh38]
Chr19:11218133 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.679G>A (p.Asp227Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001056153] |
Chr19:11105585 [GRCh38]
Chr19:11216261 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1648del (p.Val550fs) |
deletion |
Familial hypercholesterolemia [RCV001047250] |
Chr19:11116155 [GRCh38]
Chr19:11226831 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1179G>T (p.Lys393Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001234707] |
Chr19:11111632 [GRCh38]
Chr19:11222308 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.887G>T (p.Cys296Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001042362] |
Chr19:11107461 [GRCh38]
Chr19:11218137 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1993A>T (p.Asn665Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001206560] |
Chr19:11120375 [GRCh38]
Chr19:11231051 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.817+14A>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002429769]|Familial hypercholesterolemia [RCV003741246]|Hypercholesterolemia, familial, 1 [RCV001124035]|not specified [RCV001420909] |
Chr19:11106701 [GRCh38]
Chr19:11217377 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*533G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124227] |
Chr19:11131849 [GRCh38]
Chr19:11242525 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2126G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124433] |
Chr19:11133442 [GRCh38]
Chr19:11244118 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.689A>T (p.Asn230Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182061]|Hypercholesterolemia, familial, 1 [RCV004006779] |
Chr19:11105595 [GRCh38]
Chr19:11216271 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1699A>G (p.Thr567Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182103] |
Chr19:11116206 [GRCh38]
Chr19:11226882 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11089282)_(11131359_?)del |
deletion |
Familial hypercholesterolemia [RCV001033045] |
Chr19:11199958..11242035 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.239A>G (p.Asn80Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183871]|Hypercholesterolemia, familial, 1 [RCV002505781] |
Chr19:11102712 [GRCh38]
Chr19:11213388 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1189T>C (p.Ser397Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001183909] |
Chr19:11113280 [GRCh38]
Chr19:11223956 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.325T>G (p.Cys109Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001249593] |
Chr19:11105231 [GRCh38]
Chr19:11215907 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| GRCh37/hg19 19p13.2(chr19:10642984-12810067) |
copy number loss |
not provided [RCV001249213] |
Chr19:10642984..12810067 [GRCh37]
Chr19:19p13.2 |
not provided |
| NM_000527.5(LDLR):c.79_81delinsCGT (p.Cys27Arg) |
indel |
Familial hypercholesterolemia [RCV001180627] |
Chr19:11100234..11100236 [GRCh38]
Chr19:11210910..11210912 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.10:g.(?_11123164)_(11131359_?)del |
deletion |
Familial hypercholesterolemia [RCV001033272] |
Chr19:11233840..11242035 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2547G>A (p.Ser849=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001051993] |
Chr19:11129670 [GRCh38]
Chr19:11240346 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2210T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001125438]|not specified [RCV004017788] |
Chr19:11133526 [GRCh38]
Chr19:11244202 [GRCh37]
Chr19:19p13.2 |
benign|uncertain significance |
| NM_000527.5(LDLR):c.*2282G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001125439] |
Chr19:11133598 [GRCh38]
Chr19:11244274 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*2350C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001125440] |
Chr19:11133666 [GRCh38]
Chr19:11244342 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.191-732_740del |
deletion |
Familial hypercholesterolemia [RCV001219437] |
Chr19:11101929..11106607 [GRCh38]
Chr19:11212605..11217283 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.901_911del (p.Asp301fs) |
deletion |
Familial hypercholesterolemia [RCV001236439] |
Chr19:11107473..11107483 [GRCh38]
Chr19:11218149..11218159 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.577dup (p.Asp193fs) |
duplication |
Familial hypercholesterolemia [RCV001070086] |
Chr19:11105479..11105480 [GRCh38]
Chr19:11216155..11216156 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1688_1695del (p.Pro563fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV001249597] |
Chr19:11116191..11116198 [GRCh38]
Chr19:11226867..11226874 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.401G>C (p.Cys134Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001249594] |
Chr19:11105307 [GRCh38]
Chr19:11215983 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.585C>T (p.Ser195=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356841]|Familial hypercholesterolemia [RCV001181336]|Hypercholesterolemia, familial, 1 [RCV004006735] |
Chr19:11105491 [GRCh38]
Chr19:11216167 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.774A>G (p.Glu258=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001035409]|Hypercholesterolemia, familial, 1 [RCV004004692]|not specified [RCV003331028] |
Chr19:11106644 [GRCh38]
Chr19:11217320 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.940+3_940+6del |
deletion |
Familial hypercholesterolemia [RCV001181835]|Hypercholesterolemia, familial, 1 [RCV001249596] |
Chr19:11107515..11107518 [GRCh38]
Chr19:11218191..11218194 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2037T>C (p.Tyr679=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001182068]|Hypercholesterolemia, familial, 1 [RCV004008270] |
Chr19:11120419 [GRCh38]
Chr19:11231095 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*704G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001126904] |
Chr19:11132020 [GRCh38]
Chr19:11242696 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1284del (p.Asn428fs) |
deletion |
Cardiovascular phenotype [RCV002379587]|Familial hypercholesterolemia [RCV001064423]|Hypercholesterolemia, familial, 1 [RCV001537877] |
Chr19:11113375 [GRCh38]
Chr19:11224051 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.*1744G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001123346] |
Chr19:11133060 [GRCh38]
Chr19:11243736 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1417A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127421] |
Chr19:11132733 [GRCh38]
Chr19:11243409 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1430C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127422] |
Chr19:11132746 [GRCh38]
Chr19:11243422 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1550A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001127423] |
Chr19:11132866 [GRCh38]
Chr19:11243542 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NR_163945.1(LDLR-AS1):n.302G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001175829]|Hypercholesterolemia, familial, 1 [RCV004000297] |
Chr19:11089358 [GRCh38]
Chr19:11200034 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-166A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001176165] |
Chr19:11089383 [GRCh38]
Chr19:11200059 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1447del (p.Trp483fs) |
deletion |
Familial hypercholesterolemia [RCV001036449] |
Chr19:11113623 [GRCh38]
Chr19:11224299 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2113del (p.Ala705fs) |
deletion |
Familial hypercholesterolemia [RCV001036573] |
Chr19:11120494 [GRCh38]
Chr19:11231170 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.*1269G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124343] |
Chr19:11132585 [GRCh38]
Chr19:11243261 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1891_2311+1065del |
deletion |
Familial hypercholesterolemia [RCV001041093] |
Chr19:11120137..11124409 [GRCh38]
Chr19:11230813..11235085 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1962C>G (p.Leu654=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177392] |
Chr19:11120208 [GRCh38]
Chr19:11230884 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-122C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177547] |
Chr19:11089427 [GRCh38]
Chr19:11200103 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.132G>C (p.Trp44Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001177560] |
Chr19:11100287 [GRCh38]
Chr19:11210963 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451360]|Familial hypercholesterolemia [RCV001177602]|Hypercholesterolemia, familial, 1 [RCV002497621]|not provided [RCV002223272] |
Chr19:11131285 [GRCh38]
Chr19:11241961 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.720A>G (p.Glu240=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002375084]|Familial hypercholesterolemia [RCV001184971]|Hypercholesterolemia, familial, 1 [RCV004008502] |
Chr19:11106590 [GRCh38]
Chr19:11217266 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.616A>C (p.Ser206Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001249595] |
Chr19:11105522 [GRCh38]
Chr19:11216198 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1848C>T (p.Asp616=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004033347]|Familial hypercholesterolemia [RCV001185356]|Hypercholesterolemia, familial, 1 [RCV004008526] |
Chr19:11120094 [GRCh38]
Chr19:11230770 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.944C>T (p.Thr315Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001178281] |
Chr19:11110655 [GRCh38]
Chr19:11221331 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*1167C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001123239] |
Chr19:11132483 [GRCh38]
Chr19:11243159 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.95T>C (p.Phe32Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379750]|Hypercholesterolemia, familial, 1 [RCV004010605]|not specified [RCV001193786] |
Chr19:11100250 [GRCh38]
Chr19:11210926 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2320G>T (p.Asp774Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001232857] |
Chr19:11128016 [GRCh38]
Chr19:11238692 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1859G>C (p.Trp620Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124131] |
Chr19:11120105 [GRCh38]
Chr19:11230781 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2574C>T (p.Asp858=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451373]|Familial hypercholesterolemia [RCV001180537]|Hypercholesterolemia, familial, 1 [RCV004006669]|not provided [RCV003886484] |
Chr19:11131307 [GRCh38]
Chr19:11241983 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*1227C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124342]|LDLR-related condition [RCV003983839] |
Chr19:11132543 [GRCh38]
Chr19:11243219 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.*2132G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001124434] |
Chr19:11133448 [GRCh38]
Chr19:11244124 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001056960] |
Chr19:11116981 [GRCh38]
Chr19:11227657 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1586+4C>T |
single nucleotide variant |
not provided [RCV001090452] |
Chr19:11113766 [GRCh38]
Chr19:11224442 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1013G>C (p.Cys338Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001228707] |
Chr19:11110724 [GRCh38]
Chr19:11221400 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2273G>A (p.Gly758Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001180999] |
Chr19:11123306 [GRCh38]
Chr19:11233982 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.661delinsATCAC (p.Asp221fs) |
indel |
Cardiovascular phenotype [RCV002366084]|Familial hypercholesterolemia [RCV001246803] |
Chr19:11105567 [GRCh38]
Chr19:11216243 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2083A>G (p.Thr695Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001228745] |
Chr19:11120465 [GRCh38]
Chr19:11231141 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.750T>A (p.His250Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001063763]|Hypercholesterolemia, familial, 1 [RCV004000135] |
Chr19:11106620 [GRCh38]
Chr19:11217296 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.641G>A (p.Trp214Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001255943] |
Chr19:11105547 [GRCh38]
Chr19:11216223 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1186G>C (p.Gly396Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001251451] |
Chr19:11111639 [GRCh38]
Chr19:11222315 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.314-62_1186+60dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV001253595] |
Chr19:11105156..11105157 [GRCh38]
Chr19:11221454 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.433dup (p.Val145fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV001251450] |
Chr19:11105337..11105338 [GRCh38]
Chr19:11216013..11216014 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2108_2114del (p.Leu703fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV001255933] |
Chr19:11120488..11120494 [GRCh38]
Chr19:11231164..11231170 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2287del (p.Glu763fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV001255934] |
Chr19:11123319 [GRCh38]
Chr19:11233995 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001879947]|Hypercholesterolemia, familial, 1 [RCV001255940] |
Chr19:11110730 [GRCh38]
Chr19:11221406 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1492_1493del (p.Val498fs) |
deletion |
Familial hypercholesterolemia [RCV001879948]|Hypercholesterolemia, familial, 1 [RCV001255949]|LDLR-related condition [RCV003405465] |
Chr19:11113667..11113668 [GRCh38]
Chr19:11224343..11224344 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1502C>G (p.Ala501Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001255950] |
Chr19:11113678 [GRCh38]
Chr19:11224354 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001873808]|Hypercholesterolemia, familial, 1 [RCV001537876] |
Chr19:11105388 [GRCh38]
Chr19:11216064 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1014C>G (p.Cys338Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001267841] |
Chr19:11110725 [GRCh38]
Chr19:11221401 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.783C>T (p.Cys261=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581783]|Hypercholesterolemia, familial, 1 [RCV004004927]|not specified [RCV001256972] |
Chr19:11106653 [GRCh38]
Chr19:11217329 [GRCh37]
Chr19:19p13.2 |
benign|likely benign|uncertain significance |
| NM_000527.5(LDLR):c.2368_2374del (p.Ile792fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV001255935] |
Chr19:11128064..11128070 [GRCh38]
Chr19:11238740..11238746 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.478T>A (p.Cys160Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001255947] |
Chr19:11105384 [GRCh38]
Chr19:11216060 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1501G>A (p.Ala501Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001255948] |
Chr19:11113677 [GRCh38]
Chr19:11224353 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.843_844insGGAC (p.Phe282fs) |
insertion |
Hypercholesterolemia, familial, 1 [RCV001255951] |
Chr19:11107417..11107418 [GRCh38]
Chr19:11218093..11218094 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.910del (p.Asp304fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV001255955] |
Chr19:11107482 [GRCh38]
Chr19:11218158 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.779A>G (p.Asp260Gly) |
single nucleotide variant |
not specified [RCV001255529] |
Chr19:11106649 [GRCh38]
Chr19:11217325 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411918]|not provided [RCV001256971] |
Chr19:11120168 [GRCh38]
Chr19:11230844 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.850_852del (p.Cys284del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV001255954] |
Chr19:11107424..11107426 [GRCh38]
Chr19:11218100..11218102 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1 |
copy number loss |
See cases [RCV001263055] |
Chr19:10957601..11672041 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1506T>C (p.Asp502=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001416335] |
Chr19:11113682 [GRCh38]
Chr19:11224358 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1309G>A (p.Ala437Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001258217] |
Chr19:11113400 [GRCh38]
Chr19:11224076 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.670_675dup (p.Asp224_Lys225dup) |
duplication |
Hypercholesterolemia, familial, 1 [RCV001255936] |
Chr19:11105575..11105576 [GRCh38]
Chr19:11216251..11216252 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer) |
insertion |
Cardiovascular phenotype [RCV002379959]|Hypercholesterolemia, familial, 1 [RCV001255945] |
Chr19:11113394..11113395 [GRCh38]
Chr19:11224070..11224071 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1406T>A (p.Ile469Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001255946] |
Chr19:11113582 [GRCh38]
Chr19:11224258 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.845T>G (p.Phe282Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001255953] |
Chr19:11107419 [GRCh38]
Chr19:11218095 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1214_1217dup (p.His407fs) |
duplication |
Familial hypercholesterolemia [RCV001258044] |
Chr19:11113304..11113305 [GRCh38]
Chr19:11223980..11223981 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(?_11200038)_(11211022_11213339)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV002280317] |
Chr19:11200038..11211022 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1756T>C (p.Ser586Pro) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001813909] |
Chr19:11116909 [GRCh38]
Chr19:11227585 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1054_1056del (p.Cys352del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV001262749] |
Chr19:11110765..11110767 [GRCh38]
Chr19:11221441..11221443 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.302A>G (p.Glu101Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002436986] |
Chr19:11102775 [GRCh38]
Chr19:11213451 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.227_233del (p.Gly76fs) |
deletion |
Familial hypercholesterolemia [RCV002568932]|Hypercholesterolemia, familial, 1 [RCV001537875] |
Chr19:11102699..11102705 [GRCh38]
Chr19:11213375..11213381 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2045T>G (p.Leu682Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001258045] |
Chr19:11120427 [GRCh38]
Chr19:11231103 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2444T>A (p.Leu815His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001258218] |
Chr19:11129567 [GRCh38]
Chr19:11240243 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001553636] |
Chr19:11106647 [GRCh38]
Chr19:11217323 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.844T>C (p.Phe282Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001255952] |
Chr19:11107418 [GRCh38]
Chr19:11218094 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418863]|Familial hypercholesterolemia [RCV001373185]|Hypercholesterolemia, familial, 1 [RCV001258321] |
Chr19:11120207 [GRCh38]
Chr19:11230883 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.369_370insGCCA (p.Arg124fs) |
insertion |
Familial hypercholesterolemia [RCV001304932] |
Chr19:11105275..11105276 [GRCh38]
Chr19:11215951..11215952 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004035599]|Familial hypercholesterolemia [RCV001293737]|Hypercholesterolemia, familial, 1 [RCV001537878] |
Chr19:11113418 [GRCh38]
Chr19:11224094 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1592T>A (p.Met531Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004302312]|Familial hypercholesterolemia [RCV003581908] |
Chr19:11116099 [GRCh38]
Chr19:11226775 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1752C>T (p.Ser584=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001394537] |
Chr19:11116905 [GRCh38]
Chr19:11227581 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1317T>C (p.Asn439=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001392545] |
Chr19:11113408 [GRCh38]
Chr19:11224084 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1665G>T (p.Leu555=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001412546]|Hypercholesterolemia, familial, 1 [RCV004006928] |
Chr19:11116172 [GRCh38]
Chr19:11226848 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1436T>A (p.Leu479Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001281670] |
Chr19:11113612 [GRCh38]
Chr19:11224288 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.-190C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001278017] |
Chr19:11089359 [GRCh38]
Chr19:11200035 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169887]|Familial hypercholesterolemia [RCV001368838]|Hypercholesterolemia, familial, 1 [RCV002488147] |
Chr19:11116877 [GRCh38]
Chr19:11227553 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2391G>T (p.Val797=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001414605] |
Chr19:11129514 [GRCh38]
Chr19:11240190 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.9C>T (p.Pro3=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001392018] |
Chr19:11089557 [GRCh38]
Chr19:11200233 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1129dup (p.Cys377fs) |
duplication |
Familial hypercholesterolemia [RCV001293741] |
Chr19:11111581..11111582 [GRCh38]
Chr19:11222257..11222258 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(?_11213320)_(11216296_?)del |
deletion |
Familial hypercholesterolemia [RCV001382971] |
Chr19:11213320..11216296 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11213330)_(11222326_?)del |
deletion |
Familial hypercholesterolemia [RCV001382972] |
Chr19:11213330..11222326 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11217231)_(11224448_?)del |
deletion |
Familial hypercholesterolemia [RCV001382973] |
Chr19:11217231..11224448 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1044C>T (p.Ala348=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001397284] |
Chr19:11110755 [GRCh38]
Chr19:11221431 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.117C>T (p.Cys39=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001321439] |
Chr19:11100272 [GRCh38]
Chr19:11210948 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1687C>A (p.Pro563Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001322750] |
Chr19:11116194 [GRCh38]
Chr19:11226870 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.976T>C (p.Ser326Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001293739]|Hypercholesterolemia, familial, 1 [RCV002227268] |
Chr19:11110687 [GRCh38]
Chr19:11221363 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.203G>T (p.Cys68Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001293742]|Hypercholesterolemia, familial, 1 [RCV001813822] |
Chr19:11102676 [GRCh38]
Chr19:11213352 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1958_1959delinsCC (p.Val653Ala) |
indel |
Familial hypercholesterolemia [RCV001305459] |
Chr19:11120204..11120205 [GRCh38]
Chr19:11230880..11230881 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2312-2A>G |
single nucleotide variant |
Familial type 3 hyperlipoproteinemia [RCV001269387]|Hypercholesterolemia, familial, 1 [RCV001270447] |
Chr19:11128006 [GRCh38]
Chr19:11238682 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter) |
duplication |
Familial hypercholesterolemia [RCV002570395]|Familial type 3 hyperlipoproteinemia [RCV001269386]|Hypercholesterolemia, familial, 1 [RCV001270435] |
Chr19:11110719..11110720 [GRCh38]
Chr19:11221395..11221396 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NC_000019.9:g.(?_10912954)_(11200309_?)dup |
duplication |
Familial hypercholesterolemia [RCV001345083] |
Chr19:10912954..11200309 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1162C>G (p.His388Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001372381] |
Chr19:11111615 [GRCh38]
Chr19:11222291 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.780C>A (p.Asp260Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001337149] |
Chr19:11106650 [GRCh38]
Chr19:11217326 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.161A>C (p.Asp54Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001370596] |
Chr19:11100316 [GRCh38]
Chr19:11210992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001341649] |
Chr19:11116930 [GRCh38]
Chr19:11227606 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2161A>G (p.Thr721Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001351643] |
Chr19:11123194 [GRCh38]
Chr19:11233870 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1597T>G (p.Trp533Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001344600] |
Chr19:11116104 [GRCh38]
Chr19:11226780 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.679G>C (p.Asp227His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001366200]|Hypercholesterolemia, familial, 1 [RCV004006797] |
Chr19:11105585 [GRCh38]
Chr19:11216261 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2395C>T (p.Leu799Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001324750] |
Chr19:11129518 [GRCh38]
Chr19:11240194 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1706A>T (p.Asp569Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001360446] |
Chr19:11116859 [GRCh38]
Chr19:11227535 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1255dup (p.Tyr419fs) |
duplication |
Cardiovascular phenotype [RCV002411922]|Hypercholesterolemia, familial, 1 [RCV001270434] |
Chr19:11113345..11113346 [GRCh38]
Chr19:11224021..11224022 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.396G>A (p.Arg132=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001278018] |
Chr19:11105302 [GRCh38]
Chr19:11215978 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.2529C>T (p.Asp843=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002451635]|Familial hypercholesterolemia [RCV001278020] |
Chr19:11129652 [GRCh38]
Chr19:11240328 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.817+7G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001421988] |
Chr19:11106694 [GRCh38]
Chr19:11217370 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227267]|not specified [RCV001290542] |
Chr19:11100294 [GRCh38]
Chr19:11210970 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV001449856] |
Chr19:11221328..11227674 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| Single allele |
deletion |
not provided [RCV001449858] |
Chr19:11241957..11241992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2390-4A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001396483] |
Chr19:11129509 [GRCh38]
Chr19:11240185 [GRCh37]
Chr19:19p13.2 |
likely benign |
| Single allele |
duplication |
Hypercholesterolemia, familial, 1 [RCV001449852] |
Chr19:11210899..11218190 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| Single allele |
deletion |
not provided [RCV001449853] |
Chr19:11213340..11216276 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV001449854] |
Chr19:11213340..11217363 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV001449855] |
Chr19:11217241..11217363 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| Single allele |
deletion |
Hypercholesterolemia, familial, 1 [RCV001449857] |
Chr19:11233850..11234020 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1705+8C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001396488] |
Chr19:11116220 [GRCh38]
Chr19:11226896 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1705+9G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001493778] |
Chr19:11116221 [GRCh38]
Chr19:11226897 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1638C>A (p.Gly546=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001500257] |
Chr19:11116145 [GRCh38]
Chr19:11226821 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.313+1_313+2dup |
duplication |
Familial hypercholesterolemia [RCV001306671] |
Chr19:11102786..11102787 [GRCh38]
Chr19:11213462..11213463 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581792]|Hypercholesterolemia, familial, 1 [RCV001450032] |
Chr19:11113422 [GRCh38]
Chr19:11224098 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1061-1G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001450048] |
Chr19:11111513 [GRCh38]
Chr19:11222189 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1070_1071dup (p.Cys358fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV001450049] |
Chr19:11111521..11111522 [GRCh38]
Chr19:11222197..11222198 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.978C>G (p.Ser326=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001478824] |
Chr19:11110689 [GRCh38]
Chr19:11221365 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741257]|Hypercholesterolemia, familial, 1 [RCV001450033]|not specified [RCV003399237] |
Chr19:11116193 [GRCh38]
Chr19:11226869 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2547+2T>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001450044] |
Chr19:11129672 [GRCh38]
Chr19:11240348 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1722C>T (p.Arg574=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001473090] |
Chr19:11116875 [GRCh38]
Chr19:11227551 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1131C>T (p.Cys377=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001465084]|Hypercholesterolemia, familial, 1 [RCV004007097] |
Chr19:11111584 [GRCh38]
Chr19:11222260 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.317C>G (p.Pro106Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524707] |
Chr19:11105223 [GRCh38]
Chr19:11215899 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1060+10G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001458169] |
Chr19:11110781 [GRCh38]
Chr19:11221457 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.181G>A (p.Glu61Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525155] |
Chr19:11100336 [GRCh38]
Chr19:11211012 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1706-7T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741261]|not provided [RCV001509012] |
Chr19:11116852 [GRCh38]
Chr19:11227528 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.694+7G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001496033] |
Chr19:11105607 [GRCh38]
Chr19:11216283 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-162G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525352] |
Chr19:11089387 [GRCh38]
Chr19:11200063 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.711C>T (p.Arg237=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525353]|Hypercholesterolemia, familial, 1 [RCV004008838] |
Chr19:11106581 [GRCh38]
Chr19:11217257 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525355]|Hypercholesterolemia, familial, 1 [RCV004008839]|not specified [RCV001806219] |
Chr19:11113751 [GRCh38]
Chr19:11224427 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525356]|Hypercholesterolemia, familial, 1 [RCV002495842] |
Chr19:11113755 [GRCh38]
Chr19:11224431 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1846-15T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525357] |
Chr19:11120077 [GRCh38]
Chr19:11230753 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2038C>T (p.Leu680=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001487670] |
Chr19:11120420 [GRCh38]
Chr19:11231096 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1065C>T (p.Ile355=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414228]|Familial hypercholesterolemia [RCV001504894]|Hypercholesterolemia, familial, 1 [RCV004017842] |
Chr19:11111518 [GRCh38]
Chr19:11222194 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.2548-8G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001476221] |
Chr19:11131273 [GRCh38]
Chr19:11241949 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.129G>A (p.Lys43=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001506313] |
Chr19:11100284 [GRCh38]
Chr19:11210960 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1306G>A (p.Val436Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525990] |
Chr19:11113397 [GRCh38]
Chr19:11224073 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.633C>T (p.His211=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001465154] |
Chr19:11105539 [GRCh38]
Chr19:11216215 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2548-147G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001527132] |
Chr19:11131134 [GRCh38]
Chr19:11241810 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.354T>C (p.Asp118=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001500351]|Hypercholesterolemia, familial, 1 [RCV004007210] |
Chr19:11105260 [GRCh38]
Chr19:11215936 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2019C>T (p.Ser673=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001483231] |
Chr19:11120401 [GRCh38]
Chr19:11231077 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+53A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001527122] |
Chr19:11113815 [GRCh38]
Chr19:11224491 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1705+209C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001527131] |
Chr19:11116421 [GRCh38]
Chr19:11227097 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.2141-9T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001459704] |
Chr19:11123165 [GRCh38]
Chr19:11233841 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1503_1504dup (p.Asp502fs) |
duplication |
Familial hypercholesterolemia [RCV001381066] |
Chr19:11113678..11113679 [GRCh38]
Chr19:11224354..11224355 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1425C>G (p.Ala475=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001474388] |
Chr19:11113601 [GRCh38]
Chr19:11224277 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-6C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001492914] |
Chr19:11105214 [GRCh38]
Chr19:11215890 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2073G>T (p.Ser691=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001469553] |
Chr19:11120455 [GRCh38]
Chr19:11231131 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.9:g.(?_11215886)_(11216301_?)del |
deletion |
Familial hypercholesterolemia [RCV001390564] |
Chr19:11215886..11216301 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.474C>T (p.Ser158=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525178] |
Chr19:11105380 [GRCh38]
Chr19:11216056 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1880C>G (p.Ala627Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525341] |
Chr19:11120126 [GRCh38]
Chr19:11230802 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2154A>G (p.Ala718=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001493090] |
Chr19:11123187 [GRCh38]
Chr19:11233863 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1531_1532dup (p.Leu511fs) |
duplication |
Familial hypercholesterolemia [RCV001390889] |
Chr19:11113706..11113707 [GRCh38]
Chr19:11224382..11224383 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1272C>G (p.Pro424=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001506055] |
Chr19:11113363 [GRCh38]
Chr19:11224039 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1186+9G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001491795]|LDLR-related condition [RCV003921033] |
Chr19:11111648 [GRCh38]
Chr19:11222324 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1257C>T (p.Tyr419=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001484466] |
Chr19:11113348 [GRCh38]
Chr19:11224024 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1653C>T (p.Asp551=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001434642]|Hypercholesterolemia, familial, 1 [RCV004006995] |
Chr19:11116160 [GRCh38]
Chr19:11226836 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2449_2453del (p.Asn817fs) |
deletion |
Familial hypercholesterolemia [RCV001391030] |
Chr19:11129572..11129576 [GRCh38]
Chr19:11240248..11240252 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.171T>C (p.Asp57=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001472451] |
Chr19:11100326 [GRCh38]
Chr19:11211002 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1987+9G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001424020] |
Chr19:11120242 [GRCh38]
Chr19:11230918 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.810C>G (p.Cys270Trp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001377230] |
Chr19:11106680 [GRCh38]
Chr19:11217356 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1358+10G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001478419] |
Chr19:11113459 [GRCh38]
Chr19:11224135 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.96C>T (p.Phe32=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001464405] |
Chr19:11100251 [GRCh38]
Chr19:11210927 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2110C>T (p.Leu704=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421033]|Familial hypercholesterolemia [RCV001456619] |
Chr19:11120492 [GRCh38]
Chr19:11231168 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1527A>G (p.Lys509=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001435290] |
Chr19:11113703 [GRCh38]
Chr19:11224379 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2007G>A (p.Arg669=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001424440] |
Chr19:11120389 [GRCh38]
Chr19:11231065 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2530_2542del (p.Gly844fs) |
deletion |
Familial hypercholesterolemia [RCV001389056] |
Chr19:11129652..11129664 [GRCh38]
Chr19:11240328..11240340 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11240179)_(11241992_?)del |
deletion |
Familial hypercholesterolemia [RCV001388027] |
Chr19:11240179..11241992 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1767T>C (p.Asp589=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002405049]|Familial hypercholesterolemia [RCV001446215] |
Chr19:11116920 [GRCh38]
Chr19:11227596 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2462_2463insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAATAATAATAAAAGAACATCAACAGCAT (p.Ile821_Asn822insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) |
insertion |
Familial hypercholesterolemia [RCV001388051] |
Chr19:11129568..11129569 [GRCh38]
Chr19:11240244..11240245 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.313+8T>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001440929] |
Chr19:11102794 [GRCh38]
Chr19:11213470 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.513C>T (p.Pro171=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350856]|Familial hypercholesterolemia [RCV001434329] |
Chr19:11105419 [GRCh38]
Chr19:11216095 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1944C>T (p.Ser648=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414077]|Familial hypercholesterolemia [RCV001448994]|Hypercholesterolemia, familial, 1 [RCV004007047] |
Chr19:11120190 [GRCh38]
Chr19:11230866 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1122C>T (p.Gly374=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001410068] |
Chr19:11111575 [GRCh38]
Chr19:11222251 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1824del (p.Phe609fs) |
deletion |
Familial hypercholesterolemia [RCV001386345] |
Chr19:11116974 [GRCh38]
Chr19:11227650 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2394C>G (p.Leu798=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001430459] |
Chr19:11129517 [GRCh38]
Chr19:11240193 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2277C>T (p.Leu759=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001409846]|Hypercholesterolemia, familial, 1 [RCV004006917] |
Chr19:11123310 [GRCh38]
Chr19:11233986 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.67+1075G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001449318] |
Chr19:11090690 [GRCh38]
Chr19:11201366 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.366C>T (p.Ile122=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001436731] |
Chr19:11105272 [GRCh38]
Chr19:11215948 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.190+8C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001447021] |
Chr19:11100353 [GRCh38]
Chr19:11211029 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.183G>A (p.Glu61=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003365379]|Familial hypercholesterolemia [RCV001399555]|Hypercholesterolemia, familial, 1 [RCV004006885] |
Chr19:11100338 [GRCh38]
Chr19:11211014 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.567G>T (p.Val189=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001444267] |
Chr19:11105473 [GRCh38]
Chr19:11216149 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1846-10G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001431102]|Hypercholesterolemia, familial, 1 [RCV004006980] |
Chr19:11120082 [GRCh38]
Chr19:11230758 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.851G>T (p.Cys284Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413905]|Familial hypercholesterolemia [RCV001376931] |
Chr19:11107425 [GRCh38]
Chr19:11218101 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.621C>A (p.Gly207=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001419011]|Hypercholesterolemia, familial, 1 [RCV004006951]|not specified [RCV002246380] |
Chr19:11105527 [GRCh38]
Chr19:11216203 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NC_000019.9:g.(?_11230758)_(11242035_?)del |
deletion |
Familial hypercholesterolemia [RCV001388026] |
Chr19:11230758..11242035 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1494C>G (p.Val498=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001429340] |
Chr19:11113670 [GRCh38]
Chr19:11224346 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.9:g.(?_11223944)_(11227689_?)del |
deletion |
Familial hypercholesterolemia [RCV001388218] |
Chr19:11223944..11227689 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11223948)_(11241997_?)del |
deletion |
Familial hypercholesterolemia [RCV001388220] |
Chr19:11223948..11241997 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1111C>T (p.Leu371=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001440238] |
Chr19:11111564 [GRCh38]
Chr19:11222240 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2312-1G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001376759] |
Chr19:11128007 [GRCh38]
Chr19:11238683 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1187-9G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001431649] |
Chr19:11113269 [GRCh38]
Chr19:11223945 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1186+8C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001431366] |
Chr19:11111647 [GRCh38]
Chr19:11222323 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.9:g.(?_11217231)_(11218204_?)del |
deletion |
Familial hypercholesterolemia [RCV001390563] |
Chr19:11217231..11218204 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11221289)_(11221471_?)del |
deletion |
Familial hypercholesterolemia [RCV001390565] |
Chr19:11221289..11221471 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.190+10C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001401385] |
Chr19:11100355 [GRCh38]
Chr19:11211031 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.519C>T (p.Cys173=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001403720] |
Chr19:11105425 [GRCh38]
Chr19:11216101 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.936G>A (p.Glu312=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001419452] |
Chr19:11107510 [GRCh38]
Chr19:11218186 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1146C>T (p.Gly382=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456707]|Familial hypercholesterolemia [RCV001429526]|Hypercholesterolemia, familial, 1 [RCV004006974] |
Chr19:11111599 [GRCh38]
Chr19:11222275 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1440T>G (p.Ala480=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001429531] |
Chr19:11113616 [GRCh38]
Chr19:11224292 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2469_2470insTTTTTTTTTTTTTTTTTNNNNNNNNNNTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCGGCCAACAGCATCAACTTT (p.Asp824delinsPhePhePhePhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer) |
insertion |
Familial hypercholesterolemia [RCV001381977] |
Chr19:11129576..11129577 [GRCh38]
Chr19:11240252..11240253 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1356C>A (p.Cys452Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001385773] |
Chr19:11113447 [GRCh38]
Chr19:11224123 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.225T>C (p.Cys75=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001428511]|Hypercholesterolemia, familial, 1 [RCV004006971] |
Chr19:11102698 [GRCh38]
Chr19:11213374 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1411del (p.Arg471fs) |
deletion |
Familial hypercholesterolemia [RCV001384537] |
Chr19:11113587 [GRCh38]
Chr19:11224263 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2409C>T (p.Cys803=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001438329] |
Chr19:11129532 [GRCh38]
Chr19:11240208 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.874C>T (p.Leu292=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377638]|Familial hypercholesterolemia [RCV001409216] |
Chr19:11107448 [GRCh38]
Chr19:11218124 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2442del (p.Lys816fs) |
deletion |
Familial hypercholesterolemia [RCV001523923] |
Chr19:11129564 [GRCh38]
Chr19:11240240 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.255G>A (p.Gln85=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001485506] |
Chr19:11102728 [GRCh38]
Chr19:11213404 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.395G>A (p.Arg132Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524799]|Hypercholesterolemia, familial, 1 [RCV004008794] |
Chr19:11105301 [GRCh38]
Chr19:11215977 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.56C>G (p.Ala19Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524830] |
Chr19:11089604 [GRCh38]
Chr19:11200280 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.102C>G (p.Cys34Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001450034] |
Chr19:11100257 [GRCh38]
Chr19:11210933 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV001450036] |
Chr19:11120189..11120190 [GRCh38]
Chr19:11230865..11230866 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.4:c.(1705+1_1706-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV001450043] |
|
pathogenic |
| NM_000527.5(LDLR):c.1988-7G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001483708] |
Chr19:11120363 [GRCh38]
Chr19:11231039 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1583A>G (p.His528Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525471] |
Chr19:11113759 [GRCh38]
Chr19:11224435 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV001450039] |
Chr19:19p13.2 |
pathogenic |
| NM_000527.4:c.(1845+1_1846-1)_(2311+1_2312-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV001450040] |
|
pathogenic |
| NM_000527.4:c.(2140+1_2141-1)_(2389+1_2390-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV001450041] |
|
pathogenic |
| NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377745]|Familial hypercholesterolemia [RCV002557526]|Hypercholesterolemia, familial, 1 [RCV001450031]|not provided [RCV001508840] |
Chr19:11113368 [GRCh38]
Chr19:11224044 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2341G>T (p.Glu781Ter) |
single nucleotide variant |
not provided [RCV001509014] |
Chr19:11128037 [GRCh38]
Chr19:11238713 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.-45A>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525975] |
Chr19:11089504 [GRCh38]
Chr19:11200180 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2425C>T (p.Leu809=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001473529] |
Chr19:11129548 [GRCh38]
Chr19:11240224 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1187-25C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001515130]|not provided [RCV001595083] |
Chr19:11113253 [GRCh38]
Chr19:11223929 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.594G>A (p.Ser198=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359045]|Familial hypercholesterolemia [RCV001469080] |
Chr19:11105500 [GRCh38]
Chr19:11216176 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.941-7T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001479359]|Hypercholesterolemia, familial, 1 [RCV004007144] |
Chr19:11110645 [GRCh38]
Chr19:11221321 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.940+8T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001480281] |
Chr19:11107522 [GRCh38]
Chr19:11218198 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.694+7G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001480329] |
Chr19:11105607 [GRCh38]
Chr19:11216283 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.33C>T (p.Thr11=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001470359] |
Chr19:11089581 [GRCh38]
Chr19:11200257 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.177C>T (p.Ser59=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001466960] |
Chr19:11100332 [GRCh38]
Chr19:11211008 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1125C>T (p.Tyr375=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001471486] |
Chr19:11111578 [GRCh38]
Chr19:11222254 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1398C>T (p.Asp466=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004037213]|Familial hypercholesterolemia [RCV001481073] |
Chr19:11113574 [GRCh38]
Chr19:11224250 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2414G>A (p.Gly805Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581797]|not provided [RCV001699871] |
Chr19:11129537 [GRCh38]
Chr19:11240213 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.988A>G (p.Asn330Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524025] |
Chr19:11110699 [GRCh38]
Chr19:11221375 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.210C>T (p.Ser70=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004037250]|Familial hypercholesterolemia [RCV001485244]|Hypercholesterolemia, familial, 1 [RCV004007158] |
Chr19:11102683 [GRCh38]
Chr19:11213359 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2389+9G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001467470]|Hypercholesterolemia, familial, 1 [RCV002495687] |
Chr19:11128094 [GRCh38]
Chr19:11238770 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2520C>T (p.His840=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432373]|Familial hypercholesterolemia [RCV001489217] |
Chr19:11129643 [GRCh38]
Chr19:11240319 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1062T>C (p.Asp354=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001394228] |
Chr19:11111515 [GRCh38]
Chr19:11222191 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1358+1G>C |
single nucleotide variant |
not provided [RCV001509009] |
Chr19:11113450 [GRCh38]
Chr19:11224126 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.67+833T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001512648] |
Chr19:11090448 [GRCh38]
Chr19:11201124 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1846-8C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525264] |
Chr19:11120084 [GRCh38]
Chr19:11230760 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1962C>T (p.Leu654=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421070]|Familial hypercholesterolemia [RCV001469639] |
Chr19:11120208 [GRCh38]
Chr19:11230884 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2547+10C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001417346] |
Chr19:11129680 [GRCh38]
Chr19:11240356 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2390-3C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525358]|Hypercholesterolemia, familial, 1 [RCV004008840] |
Chr19:11129510 [GRCh38]
Chr19:11240186 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2227A>G (p.Thr743Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525414] |
Chr19:11123260 [GRCh38]
Chr19:11233936 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1509C>A (p.Thr503=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001405831] |
Chr19:11113685 [GRCh38]
Chr19:11224361 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1587-4C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001487591] |
Chr19:11116090 [GRCh38]
Chr19:11226766 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.608A>G (p.His203Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004039178]|Familial hypercholesterolemia [RCV001525739] |
Chr19:11105514 [GRCh38]
Chr19:11216190 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.60G>A (p.Gly20=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359150]|Familial hypercholesterolemia [RCV001525853]|Hypercholesterolemia, familial, 1 [RCV004008879] |
Chr19:11089608 [GRCh38]
Chr19:11200284 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.678T>C (p.Ser226=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368482]|Familial hypercholesterolemia [RCV001483069] |
Chr19:11105584 [GRCh38]
Chr19:11216260 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1323C>A (p.Ile441=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525920] |
Chr19:11113414 [GRCh38]
Chr19:11224090 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1782C>G (p.Asn594Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001525940] |
Chr19:11116935 [GRCh38]
Chr19:11227611 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1428C>G (p.Pro476=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001483179] |
Chr19:11113604 [GRCh38]
Chr19:11224280 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.682_683insGTATGGACTGCA (p.Glu228delinsGlyMetAspCysLys) |
insertion |
Familial hypercholesterolemia [RCV001386961] |
Chr19:11105588..11105589 [GRCh38]
Chr19:11216264..11216265 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1705+182C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001527130] |
Chr19:11116394 [GRCh38]
Chr19:11227070 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1988-4C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001451795] |
Chr19:11120366 [GRCh38]
Chr19:11231042 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.678_681dup (p.Glu228Ter) |
duplication |
Familial hypercholesterolemia [RCV001389014] |
Chr19:11105582..11105583 [GRCh38]
Chr19:11216258..11216259 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.588C>A (p.Pro196=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358933]|Familial hypercholesterolemia [RCV001417894]|Hypercholesterolemia, familial, 1 [RCV004006946] |
Chr19:11105494 [GRCh38]
Chr19:11216170 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1881C>T (p.Ala627=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001523867]|Hypercholesterolemia, familial, 1 [RCV004007236] |
Chr19:11120127 [GRCh38]
Chr19:11230803 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.635C>T (p.Ser212Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001523908] |
Chr19:11105541 [GRCh38]
Chr19:11216217 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2172A>T (p.Thr724=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001416015] |
Chr19:11123205 [GRCh38]
Chr19:11233881 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.67+1dup |
duplication |
Familial hypercholesterolemia [RCV001378852] |
Chr19:11089614..11089615 [GRCh38]
Chr19:11200290..11200291 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2582G>A (p.Ter861=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001427582] |
Chr19:11131315 [GRCh38]
Chr19:11241991 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1187-1_1187delinsTA |
indel |
Familial hypercholesterolemia [RCV001380149] |
Chr19:11113277..11113278 [GRCh38]
Chr19:11223953..11223954 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1889G>C (p.Ser630Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524196] |
Chr19:11120135 [GRCh38]
Chr19:11230811 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2103C>T (p.Gly701=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524247] |
Chr19:11120485 [GRCh38]
Chr19:11231161 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1023C>T (p.Pro341=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377675]|Familial hypercholesterolemia [RCV001424175]|Hypercholesterolemia, familial, 1 [RCV004006959]|not specified [RCV003479329] |
Chr19:11110734 [GRCh38]
Chr19:11221410 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.462G>A (p.Gln154=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001398638] |
Chr19:11105368 [GRCh38]
Chr19:11216044 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1516dup (p.Val506fs) |
duplication |
Familial hypercholesterolemia [RCV001385908] |
Chr19:11113691..11113692 [GRCh38]
Chr19:11224367..11224368 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11230813)_11235085del |
deletion |
Familial hypercholesterolemia [RCV001380355] |
|
pathogenic |
| NC_000019.9:g.(?_11212605)_11217283del |
deletion |
Familial hypercholesterolemia [RCV001380356] |
|
pathogenic |
| NM_000527.5(LDLR):c.1377C>G (p.Ala459=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001424441] |
Chr19:11113553 [GRCh38]
Chr19:11224229 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.51C>T (p.Ala17=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001418652] |
Chr19:11089599 [GRCh38]
Chr19:11200275 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1197C>T (p.Ala399=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298902]|Familial hypercholesterolemia [RCV001504150] |
Chr19:11113288 [GRCh38]
Chr19:11223964 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2376T>C (p.Ile792=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456869]|Familial hypercholesterolemia [RCV001489302] |
Chr19:11128072 [GRCh38]
Chr19:11238748 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1153C>T (p.Leu385=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001482508] |
Chr19:11111606 [GRCh38]
Chr19:11222282 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524930]|Hypercholesterolemia, familial, 1 [RCV002495841] |
Chr19:11116119 [GRCh38]
Chr19:11226795 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2147A>C (p.Glu716Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001524958] |
Chr19:11123180 [GRCh38]
Chr19:11233856 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-116T>C |
single nucleotide variant |
not provided [RCV001508837] |
Chr19:11089433 [GRCh38]
Chr19:11200109 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1137T>A (p.Cys379Ter) |
single nucleotide variant |
not provided [RCV001508839] |
Chr19:11111590 [GRCh38]
Chr19:11222266 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2250C>A (p.Ser750=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001505815] |
Chr19:11123283 [GRCh38]
Chr19:11233959 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2052C>G (p.Ala684=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421172]|Familial hypercholesterolemia [RCV001525085]|Hypercholesterolemia, familial, 1 [RCV004008817] |
Chr19:11120434 [GRCh38]
Chr19:11231110 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2312-9C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001399458] |
Chr19:11127999 [GRCh38]
Chr19:11238675 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.9:g.(?_11222190)_(11227674_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV002280316] |
Chr19:11222190..11227674 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1790C>A (p.Thr597Asn) |
single nucleotide variant |
not specified [RCV002247947] |
Chr19:11116943 [GRCh38]
Chr19:11227619 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002250090] |
Chr19:11100261 [GRCh38]
Chr19:11210937 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.940+4A>T |
single nucleotide variant |
not specified [RCV002247946] |
Chr19:11107518 [GRCh38]
Chr19:11218194 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.103del (p.Gln35fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV002227544] |
Chr19:11100257 [GRCh38]
Chr19:11210933 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.618T>A (p.Ser206Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227551] |
Chr19:11105524 [GRCh38]
Chr19:11216200 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1846-1_1847dup |
duplication |
Familial hypercholesterolemia [RCV002238579] |
Chr19:11120089..11120090 [GRCh38]
Chr19:11230765..11230766 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1847A>G (p.Asp616Gly) |
single nucleotide variant |
not specified [RCV002238580] |
Chr19:11120093 [GRCh38]
Chr19:11230769 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1037dup (p.Val347fs) |
duplication |
not provided [RCV001732956] |
Chr19:11110747..11110748 [GRCh38]
Chr19:11221423..11221424 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_10828919)_(13482613_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] |
Chr19:10828919..13482613 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.817+1_817+2insCTG |
insertion |
Hypercholesterolemia, familial, 1 [RCV001783597] |
Chr19:11106687..11106688 [GRCh38]
Chr19:11217363..11217364 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.347G>A (p.Cys116Tyr) |
single nucleotide variant |
not provided [RCV001801016] |
Chr19:11105253 [GRCh38]
Chr19:11215929 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1874A>G (p.Asn625Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004009067]|not specified [RCV001801103] |
Chr19:11120120 [GRCh38]
Chr19:11230796 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5:c.(2311+1_2312-1)_(2389+1_2390-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV001785271] |
|
uncertain significance |
| NM_000527.5(LDLR):c.1918A>T (p.Asn640Tyr) |
single nucleotide variant |
not provided [RCV001754384] |
Chr19:11120164 [GRCh38]
Chr19:11230840 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.379G>A (p.Val127Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359257]|not provided [RCV001794787] |
Chr19:11105285 [GRCh38]
Chr19:11215961 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.818-3C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004007873] |
Chr19:11107389 [GRCh38]
Chr19:11218065 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| GRCh37/hg19 19p13.2(chr19:11215846-11222365)x3 |
copy number gain |
Hypercholesterolemia, familial, 1 [RCV001801220] |
Chr19:11215846..11222365 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.144C>A (p.Gly48=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804412] |
Chr19:11100299 [GRCh38]
Chr19:11210975 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.226G>C (p.Gly76Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004040910]|Familial hypercholesterolemia [RCV001804291]|Hypercholesterolemia, familial, 1 [RCV003318691] |
Chr19:11102699 [GRCh38]
Chr19:11213375 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2561G>A (p.Ser854Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804533] |
Chr19:11131294 [GRCh38]
Chr19:11241970 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-139C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804410] |
Chr19:11089410 [GRCh38]
Chr19:11200086 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805515]|not specified [RCV003331208] |
Chr19:11113596 [GRCh38]
Chr19:11224272 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.2141-10A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805611] |
Chr19:11123164 [GRCh38]
Chr19:11233840 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.-8C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001813908] |
Chr19:11089541 [GRCh38]
Chr19:11200217 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.432G>C (p.Pro144=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805255]|Hypercholesterolemia, familial, 1 [RCV004009114] |
Chr19:11105338 [GRCh38]
Chr19:11216014 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1271C>T (p.Pro424Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805391] |
Chr19:11113362 [GRCh38]
Chr19:11224038 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2022dup (p.Gly675fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV001813913] |
Chr19:11120403..11120404 [GRCh38]
Chr19:11231079..11231080 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.382T>G (p.Cys128Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001813914] |
Chr19:11105288 [GRCh38]
Chr19:11215964 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.314-6C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805430] |
Chr19:11105214 [GRCh38]
Chr19:11215890 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.375G>A (p.Gln125=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805487]|Hypercholesterolemia, familial, 1 [RCV004009139] |
Chr19:11105281 [GRCh38]
Chr19:11215957 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2452A>G (p.Ile818Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804658] |
Chr19:11129575 [GRCh38]
Chr19:11240251 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1503G>C (p.Ala501=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001804677] |
Chr19:11113679 [GRCh38]
Chr19:11224355 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.891C>T (p.Asn297=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805285] |
Chr19:11107465 [GRCh38]
Chr19:11218141 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.-26G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001805536] |
Chr19:11089523 [GRCh38]
Chr19:11200199 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2193dup (p.Ser732fs) |
duplication |
Familial hypercholesterolemia [RCV001929168] |
Chr19:11123225..11123226 [GRCh38]
Chr19:11233901..11233902 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1586+1G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001837060] |
Chr19:11113763 [GRCh38]
Chr19:11224439 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1846-11T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001837062] |
Chr19:11120081 [GRCh38]
Chr19:11230757 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1214A>T (p.Asn405Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001837064] |
Chr19:11113305 [GRCh38]
Chr19:11223981 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.331C>T (p.Gln111Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001874862] |
Chr19:11105237 [GRCh38]
Chr19:11215913 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1988-19T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741280]|not specified [RCV001825045] |
Chr19:11120351 [GRCh38]
Chr19:11231027 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NR_163945.1(LDLR-AS1):n.247G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001929216] |
Chr19:11089413 [GRCh38]
Chr19:11200089 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2389+24_2389+33dup |
duplication |
Familial hypercholesterolemia [RCV002042916] |
Chr19:11128099..11128100 [GRCh38]
Chr19:11238775..11238776 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1222G>T (p.Glu408Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001864673] |
Chr19:11113313 [GRCh38]
Chr19:11223989 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NR_163945.1(LDLR-AS1):n.298G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV001895796] |
Chr19:11089362 [GRCh38]
Chr19:11200038 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.319_320del (p.Lys107fs) |
deletion |
Familial hypercholesterolemia [RCV001928951] |
Chr19:11105225..11105226 [GRCh38]
Chr19:11215901..11215902 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11226750)_(11231218_?)del |
deletion |
Familial hypercholesterolemia [RCV001987255] |
Chr19:11226750..11231218 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1484T>G (p.Leu495Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002025201] |
Chr19:11113660 [GRCh38]
Chr19:11224336 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 |
copy number gain |
not provided [RCV001834267] |
Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.313+3_313+6del |
deletion |
Familial hypercholesterolemia [RCV001988421] |
Chr19:11102787..11102790 [GRCh38]
Chr19:11213463..11213466 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.845T>C (p.Phe282Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001966101]|Hypercholesterolemia, familial, 1 [RCV003318707] |
Chr19:11107419 [GRCh38]
Chr19:11218095 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.44T>G (p.Leu15Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001946479] |
Chr19:11089592 [GRCh38]
Chr19:11200268 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458987]|Familial hypercholesterolemia [RCV002040636]|Hypercholesterolemia, familial, 1 [RCV002486679] |
Chr19:11129563 [GRCh38]
Chr19:11240239 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.650A>T (p.Asp217Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001966778] |
Chr19:11105556 [GRCh38]
Chr19:11216232 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV001837066] |
|
likely pathogenic |
| NM_000527.5(LDLR):c.620_626del (p.Gly207fs) |
deletion |
Familial hypercholesterolemia [RCV001946587] |
Chr19:11105522..11105528 [GRCh38]
Chr19:11216198..11216204 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11230748)_(11240366_?)dup |
duplication |
Familial hypercholesterolemia [RCV001949479] |
Chr19:11230748..11240366 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.941-8C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001891693]|Hypercholesterolemia, familial, 1 [RCV004010809] |
Chr19:11110644 [GRCh38]
Chr19:11221320 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1706-2A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001837061] |
Chr19:11116857 [GRCh38]
Chr19:11227533 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1965_1966delinsG (p.Phe655fs) |
indel |
Hypercholesterolemia, familial, 1 [RCV001837063] |
Chr19:11120211..11120212 [GRCh38]
Chr19:11230887..11230888 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1253A>G (p.Glu418Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001837065] |
Chr19:11113344 [GRCh38]
Chr19:11224020 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2485C>T (p.Gln829Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001946589] |
Chr19:11129608 [GRCh38]
Chr19:11240284 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1691A>C (p.Asn564Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV001837077] |
Chr19:11116198 [GRCh38]
Chr19:11226874 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2093G>C (p.Cys698Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002023206] |
Chr19:11120475 [GRCh38]
Chr19:11231151 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1307T>A (p.Val436Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386926]|Familial hypercholesterolemia [RCV002041241] |
Chr19:11113398 [GRCh38]
Chr19:11224074 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1020C>T (p.Cys340=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001946778] |
Chr19:11110731 [GRCh38]
Chr19:11221407 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.9:g.(?_11210879)_(11216296_?)del |
deletion |
Familial hypercholesterolemia [RCV001983043] |
Chr19:11210879..11216296 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.781T>A (p.Cys261Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407117]|Familial hypercholesterolemia [RCV001984712] |
Chr19:11106651 [GRCh38]
Chr19:11217327 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.667_681del (p.Lys223_Asp227del) |
deletion |
not provided [RCV001843991] |
Chr19:11105572..11105586 [GRCh38]
Chr19:11216248..11216262 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2128_2131dup (p.Cys711Ter) |
duplication |
Familial hypercholesterolemia [RCV001941772] |
Chr19:11120509..11120510 [GRCh38]
Chr19:11231185..11231186 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.170A>G (p.Asp57Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001886240] |
Chr19:11100325 [GRCh38]
Chr19:11211001 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.9:g.(?_11210889)_(11211031_?)del |
deletion |
Familial hypercholesterolemia [RCV001962928] |
Chr19:11210889..11211031 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2131T>C (p.Cys711Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001886437] |
Chr19:11120513 [GRCh38]
Chr19:11231189 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1862C>T (p.Thr621Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001883908] |
Chr19:11120108 [GRCh38]
Chr19:11230784 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.744C>T (p.Cys248=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001962977] |
Chr19:11106614 [GRCh38]
Chr19:11217290 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.190+2_190+3del |
microsatellite |
Familial hypercholesterolemia [RCV002038600] |
Chr19:11100345..11100346 [GRCh38]
Chr19:11211021..11211022 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.915G>T (p.Trp305Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001934029]|Hypercholesterolemia, familial, 1 [RCV003318706]|not provided [RCV002511117] |
Chr19:11107489 [GRCh38]
Chr19:11218165 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.97_115del (p.Gln33fs) |
deletion |
Familial hypercholesterolemia [RCV001962932] |
Chr19:11100252..11100270 [GRCh38]
Chr19:11210928..11210946 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.694+8C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002047284]|not specified [RCV003323936] |
Chr19:11105608 [GRCh38]
Chr19:11216284 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.17G>A (p.Trp6Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001999714] |
Chr19:11089565 [GRCh38]
Chr19:11200241 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11210879)_(11227694_?)dup |
duplication |
Familial hypercholesterolemia [RCV001999429] |
Chr19:11210879..11227694 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.572A>C (p.Gln191Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002038313]|Hypercholesterolemia, familial, 1 [RCV004011161] |
Chr19:11105478 [GRCh38]
Chr19:11216154 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2282_2309dup (p.Gln770fs) |
duplication |
Familial hypercholesterolemia [RCV001999960] |
Chr19:11123307..11123308 [GRCh38]
Chr19:11233983..11233984 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.553A>T (p.Arg185Trp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001886997] |
Chr19:11105459 [GRCh38]
Chr19:11216135 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.116dup (p.Cys39fs) |
duplication |
Familial hypercholesterolemia [RCV001942104] |
Chr19:11100270..11100271 [GRCh38]
Chr19:11210946..11210947 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1773_1775del (p.Asn591_Gly592delinsLys) |
deletion |
Familial hypercholesterolemia [RCV001952536] |
Chr19:11116926..11116928 [GRCh38]
Chr19:11227602..11227604 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NC_000019.9:g.(?_11221289)_(11224448_?)del |
deletion |
Familial hypercholesterolemia [RCV001939660] |
Chr19:11221289..11224448 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11221308)_(11234040_?)del |
deletion |
Familial hypercholesterolemia [RCV001963225] |
Chr19:11221308..11234040 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1450A>G (p.Ile484Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002037595] |
Chr19:11113626 [GRCh38]
Chr19:11224302 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.9:g.(?_11221308)_(11234040_?)dup |
duplication |
Familial hypercholesterolemia [RCV002014196] |
Chr19:11221308..11234040 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002046987]|Hypercholesterolemia, familial, 1 [RCV002246556] |
Chr19:11116115 [GRCh38]
Chr19:11226791 [GRCh37]
Chr19:19p13.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.394C>T (p.Arg132Trp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001988908] |
Chr19:11105300 [GRCh38]
Chr19:11215976 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.665_673dup (p.Asp224_Lys225insSerLysAsp) |
duplication |
Familial hypercholesterolemia [RCV001930312] |
Chr19:11105570..11105571 [GRCh38]
Chr19:11216246..11216247 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2083A>C (p.Thr695Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002047476] |
Chr19:11120465 [GRCh38]
Chr19:11231141 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1659_1660insGAG (p.Tyr553_Ser554insGlu) |
insertion |
Familial hypercholesterolemia [RCV001866731] |
Chr19:11116166..11116167 [GRCh38]
Chr19:11226842..11226843 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.9:g.(?_11240169)_(11241992_?)del |
deletion |
Familial hypercholesterolemia [RCV001953839] |
Chr19:11240169..11241992 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2127_2128delinsCT (p.Arg709_Ser710delinsSerCys) |
indel |
Familial hypercholesterolemia [RCV001933286] |
Chr19:11120509..11120510 [GRCh38]
Chr19:11231185..11231186 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2232_2290del (p.Pro745fs) |
deletion |
Familial hypercholesterolemia [RCV001953849] |
Chr19:11123265..11123323 [GRCh38]
Chr19:11233941..11233999 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.313+5G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV001918880] |
Chr19:11102791 [GRCh38]
Chr19:11213467 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2534A>G (p.Tyr845Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001976467] |
Chr19:11129657 [GRCh38]
Chr19:11240333 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1171del (p.Ala391fs) |
deletion |
Familial hypercholesterolemia [RCV001916330] |
Chr19:11111623 [GRCh38]
Chr19:11222299 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11241937)_(11241992_?)del |
deletion |
Familial hypercholesterolemia [RCV002010286] |
Chr19:11241937..11241992 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2194_2198dup (p.Thr734fs) |
duplication |
Familial hypercholesterolemia [RCV001975212] |
Chr19:11123224..11123225 [GRCh38]
Chr19:11233900..11233901 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.114A>C (p.Lys38Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001923846] |
Chr19:11100269 [GRCh38]
Chr19:11210945 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.313+6T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002324221]|Familial hypercholesterolemia [RCV002050668] |
Chr19:11102792 [GRCh38]
Chr19:11213468 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NC_000019.9:g.(?_11230748)_(11231218_?)del |
deletion |
Familial hypercholesterolemia [RCV001901966] |
Chr19:11230748..11231218 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.676_677delinsAA (p.Ser226Asn) |
indel |
Familial hypercholesterolemia [RCV001905910] |
Chr19:11105582..11105583 [GRCh38]
Chr19:11216258..11216259 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.108_109insT (p.Gly37fs) |
insertion |
Familial hypercholesterolemia [RCV001950850] |
Chr19:11100263..11100264 [GRCh38]
Chr19:11210939..11210940 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11238664)_(11241992_?)del |
deletion |
Familial hypercholesterolemia [RCV001900982] |
Chr19:11238664..11241992 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1422G>T (p.Gln474His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001978929] |
Chr19:11113598 [GRCh38]
Chr19:11224274 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.394C>G (p.Arg132Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001907197] |
Chr19:11105300 [GRCh38]
Chr19:11215976 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.610T>C (p.Cys204Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352683]|Familial hypercholesterolemia [RCV001973440] |
Chr19:11105516 [GRCh38]
Chr19:11216192 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1167del (p.Lys390fs) |
deletion |
Familial hypercholesterolemia [RCV001953844] |
Chr19:11111620 [GRCh38]
Chr19:11222296 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2488A>T (p.Lys830Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001939425] |
Chr19:11129611 [GRCh38]
Chr19:11240287 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002019776] |
Chr19:11120469 [GRCh38]
Chr19:11231145 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(?_11213320)_(11218210_?)dup |
duplication |
Familial hypercholesterolemia [RCV001951570] |
Chr19:11213320..11218210 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.368C>G (p.Ser123Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002015882] |
Chr19:11105274 [GRCh38]
Chr19:11215950 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1661del (p.Ser554fs) |
deletion |
Familial hypercholesterolemia [RCV001923608] |
Chr19:11116168 [GRCh38]
Chr19:11226844 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11199955)_(11218210_?)dup |
duplication |
Familial hypercholesterolemia [RCV001939662] |
Chr19:11199955..11218210 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2412G>A (p.Leu804=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443081]|Familial hypercholesterolemia [RCV002031676] |
Chr19:11129535 [GRCh38]
Chr19:11240211 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2191_2195dup (p.Ser732fs) |
duplication |
Familial hypercholesterolemia [RCV001952189] |
Chr19:11123221..11123222 [GRCh38]
Chr19:11233897..11233898 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1003G>T (p.Gly335Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV001919787]|Hypercholesterolemia, familial, 1 [RCV003318699] |
Chr19:11110714 [GRCh38]
Chr19:11221390 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NC_000019.9:g.(?_11213320)_(11217383_?)del |
deletion |
Familial hypercholesterolemia [RCV001951391] |
Chr19:11213320..11217383 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.311_313+18del |
deletion |
Familial hypercholesterolemia [RCV002015699] |
Chr19:11102782..11102802 [GRCh38]
Chr19:11213458..11213478 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1036C>T (p.Leu346=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002110458]|Hypercholesterolemia, familial, 1 [RCV004005446] |
Chr19:11110747 [GRCh38]
Chr19:11221423 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-5T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002128836] |
Chr19:11105215 [GRCh38]
Chr19:11215891 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1638C>T (p.Gly546=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002189193]|Hypercholesterolemia, familial, 1 [RCV004005517] |
Chr19:11116145 [GRCh38]
Chr19:11226821 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1987+8T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002186236] |
Chr19:11120241 [GRCh38]
Chr19:11230917 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.594G>C (p.Ser198=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002186827] |
Chr19:11105500 [GRCh38]
Chr19:11216176 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.843G>A (p.Lys281=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002086270] |
Chr19:11107417 [GRCh38]
Chr19:11218093 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2403C>T (p.Phe801=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002209209] |
Chr19:11129526 [GRCh38]
Chr19:11240202 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2141-180del |
deletion |
not provided [RCV002226043] |
Chr19:11122978 [GRCh38]
Chr19:11233654 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.67+184C>G |
single nucleotide variant |
not provided [RCV002226044] |
Chr19:11089799 [GRCh38]
Chr19:11200475 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1359-5C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002170350] |
Chr19:11113530 [GRCh38]
Chr19:11224206 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1209C>T (p.Phe403=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002188183]|Hypercholesterolemia, familial, 1 [RCV004011232] |
Chr19:11113300 [GRCh38]
Chr19:11223976 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1215C>T (p.Asn405=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002189873] |
Chr19:11113306 [GRCh38]
Chr19:11223982 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.817+7G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002089576] |
Chr19:11106694 [GRCh38]
Chr19:11217370 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1473C>T (p.Thr491=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002109989] |
Chr19:11113649 [GRCh38]
Chr19:11224325 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1706-16C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV004046361]|Familial hypercholesterolemia [RCV002144765] |
Chr19:11116843 [GRCh38]
Chr19:11227519 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.555G>A (p.Arg185=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002112117] |
Chr19:11105461 [GRCh38]
Chr19:11216137 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+154A>G |
single nucleotide variant |
not provided [RCV002226045] |
Chr19:11113916 [GRCh38]
Chr19:11224592 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.2016G>A (p.Leu672=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002130424] |
Chr19:11120398 [GRCh38]
Chr19:11231074 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.280del (p.Asp94fs) |
deletion |
not provided [RCV002224559] |
Chr19:11102752 [GRCh38]
Chr19:11213428 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1416C>T (p.Asp472=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002124503] |
Chr19:11113592 [GRCh38]
Chr19:11224268 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.68-9C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002205991]|Hypercholesterolemia, familial, 1 [RCV004005321] |
Chr19:11100214 [GRCh38]
Chr19:11210890 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000527.5(LDLR):c.930C>T (p.Ile310=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002187007] |
Chr19:11107504 [GRCh38]
Chr19:11218180 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227545] |
Chr19:11113726 [GRCh38]
Chr19:11224402 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2487G>C (p.Gln829His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227548] |
Chr19:11129610 [GRCh38]
Chr19:11240286 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.607del (p.His203fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV002227550] |
Chr19:11105512 [GRCh38]
Chr19:11216188 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.619G>T (p.Gly207Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227552] |
Chr19:11105525 [GRCh38]
Chr19:11216201 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1845+157del |
deletion |
not provided [RCV002226046] |
Chr19:11117139 [GRCh38]
Chr19:11227815 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.68-18C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002361492]|Familial hypercholesterolemia [RCV002088503]|Hypercholesterolemia, familial, 1 [RCV002498313] |
Chr19:11100205 [GRCh38]
Chr19:11210881 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1846-7T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002144853] |
Chr19:11120085 [GRCh38]
Chr19:11230761 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1467C>T (p.Tyr489=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002207097] |
Chr19:11113643 [GRCh38]
Chr19:11224319 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1924T>C (p.Leu642=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002133834] |
Chr19:11120170 [GRCh38]
Chr19:11230846 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.190+7C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002185068] |
Chr19:11100352 [GRCh38]
Chr19:11211028 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1494C>T (p.Val498=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002074536] |
Chr19:11113670 [GRCh38]
Chr19:11224346 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2415G>A (p.Gly805=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002211507] |
Chr19:11129538 [GRCh38]
Chr19:11240214 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1953T>C (p.Asp651=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002172520] |
Chr19:11120199 [GRCh38]
Chr19:11230875 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2547+9C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003161580]|Familial hypercholesterolemia [RCV002106583] |
Chr19:11129679 [GRCh38]
Chr19:11240355 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2548-8G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002194035]|Hypercholesterolemia, familial, 1 [RCV004005514] |
Chr19:11131273 [GRCh38]
Chr19:11241949 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1902C>G (p.Leu634=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002114931] |
Chr19:11120148 [GRCh38]
Chr19:11230824 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1791C>T (p.Thr597=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002112743] |
Chr19:11116944 [GRCh38]
Chr19:11227620 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.798T>C (p.Asp266=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002195389] |
Chr19:11106668 [GRCh38]
Chr19:11217344 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1551C>T (p.Ser517=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002134176] |
Chr19:11113727 [GRCh38]
Chr19:11224403 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-20C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002215733] |
Chr19:11105200 [GRCh38]
Chr19:11215876 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2112G>A (p.Leu704=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002105118] |
Chr19:11120494 [GRCh38]
Chr19:11231170 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1187-8A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002146865] |
Chr19:11113270 [GRCh38]
Chr19:11223946 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.231C>T (p.Gly77=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002195509]|Hypercholesterolemia, familial, 1 [RCV004011239] |
Chr19:11102704 [GRCh38]
Chr19:11213380 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2247C>G (p.Thr749=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002196621] |
Chr19:11123280 [GRCh38]
Chr19:11233956 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.630C>T (p.Ile210=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002114487] |
Chr19:11105536 [GRCh38]
Chr19:11216212 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1988-16G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002076172] |
Chr19:11120354 [GRCh38]
Chr19:11231030 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1155G>C (p.Leu385=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004047088]|Familial hypercholesterolemia [RCV002193129]|Hypercholesterolemia, familial, 1 [RCV004005506] |
Chr19:11111608 [GRCh38]
Chr19:11222284 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1335C>T (p.Asp445=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382274]|Familial hypercholesterolemia [RCV002170449] |
Chr19:11113426 [GRCh38]
Chr19:11224102 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1162_1173del (p.His388_Ala391del) |
deletion |
Familial hypercholesterolemia [RCV003093880]|not provided [RCV002223548] |
Chr19:11111613..11111624 [GRCh38]
Chr19:11222289..11222300 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1584T>C (p.His528=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002172379] |
Chr19:11113760 [GRCh38]
Chr19:11224436 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1461C>T (p.Asn487=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002078297] |
Chr19:11113637 [GRCh38]
Chr19:11224313 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.441C>T (p.Thr147=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002212848]|Hypercholesterolemia, familial, 1 [RCV004005297] |
Chr19:11105347 [GRCh38]
Chr19:11216023 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.694+15A>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002167910] |
Chr19:11105615 [GRCh38]
Chr19:11216291 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1846-9C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002087512] |
Chr19:11120083 [GRCh38]
Chr19:11230759 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1294C>T (p.Leu432=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002113682] |
Chr19:11113385 [GRCh38]
Chr19:11224061 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1818C>G (p.Ala606=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002079759] |
Chr19:11116971 [GRCh38]
Chr19:11227647 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.363C>T (p.Cys121=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002189287] |
Chr19:11105269 [GRCh38]
Chr19:11215945 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2052C>T (p.Ala684=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002131636]|not provided [RCV002511136] |
Chr19:11120434 [GRCh38]
Chr19:11231110 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1455C>T (p.His485=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002194557] |
Chr19:11113631 [GRCh38]
Chr19:11224307 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1191C>T (p.Ser397=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002199274] |
Chr19:11113282 [GRCh38]
Chr19:11223958 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1187-10G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002218536] |
Chr19:11113268 [GRCh38]
Chr19:11223944 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.483C>A (p.Ile161=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331832]|Familial hypercholesterolemia [RCV002179008] |
Chr19:11105389 [GRCh38]
Chr19:11216065 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2319C>A (p.Gly773=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003161595]|Familial hypercholesterolemia [RCV002118792]|not specified [RCV003235679] |
Chr19:11128015 [GRCh38]
Chr19:11238691 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1060+10_1060+11inv |
inversion |
Familial hypercholesterolemia [RCV002204791] |
Chr19:11110781..11110782 [GRCh38]
Chr19:11221457..11221458 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2548-177G>A |
single nucleotide variant |
not provided [RCV002222764] |
Chr19:11131104 [GRCh38]
Chr19:11241780 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.2389+214C>T |
single nucleotide variant |
not provided [RCV002222765] |
Chr19:11128299 [GRCh38]
Chr19:11238975 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.940+171G>A |
single nucleotide variant |
not provided [RCV002222766] |
Chr19:11107685 [GRCh38]
Chr19:11218361 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.1140G>A (p.Glu380=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002135503] |
Chr19:11111593 [GRCh38]
Chr19:11222269 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.644G>T (p.Arg215Leu) |
single nucleotide variant |
not specified [RCV002247945] |
Chr19:11105550 [GRCh38]
Chr19:11216226 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2349G>A (p.Lys783=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002136119] |
Chr19:11128045 [GRCh38]
Chr19:11238721 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1755C>T (p.Ile585=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002143644] |
Chr19:11116908 [GRCh38]
Chr19:11227584 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1203C>A (p.Leu401=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002122494] |
Chr19:11113294 [GRCh38]
Chr19:11223970 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.627C>T (p.Cys209=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002164654] |
Chr19:11105533 [GRCh38]
Chr19:11216209 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.190+4_190+7del |
deletion |
Familial hypercholesterolemia [RCV003581813]|not specified [RCV002223071] |
Chr19:11100349..11100352 [GRCh38]
Chr19:11211025..11211028 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.657C>T (p.Gly219=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002180330] |
Chr19:11105563 [GRCh38]
Chr19:11216239 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2247C>T (p.Thr749=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002198102] |
Chr19:11123280 [GRCh38]
Chr19:11233956 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1671T>C (p.Thr557=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398205]|Familial hypercholesterolemia [RCV002083931]|Hypercholesterolemia, familial, 1 [RCV004005338] |
Chr19:11116178 [GRCh38]
Chr19:11226854 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1118dup (p.Gly374fs) |
duplication |
Hypercholesterolemia, familial, 1 [RCV002221976] |
|
pathogenic |
| NM_000527.5(LDLR):c.2535C>T (p.Tyr845=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002143679] |
Chr19:11129658 [GRCh38]
Chr19:11240334 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1705+20G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV004044997]|Familial hypercholesterolemia [RCV002157304] |
Chr19:11116232 [GRCh38]
Chr19:11226908 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.2541C>T (p.Tyr847=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002203375] |
Chr19:11129664 [GRCh38]
Chr19:11240340 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1803T>C (p.Asp601=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002117641] |
Chr19:11116956 [GRCh38]
Chr19:11227632 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1227C>T (p.Val409=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003303700]|Familial hypercholesterolemia [RCV002159739] |
Chr19:11113318 [GRCh38]
Chr19:11223994 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1089C>T (p.Thr363=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002218916] |
Chr19:11111542 [GRCh38]
Chr19:11222218 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2211G>A (p.Arg737=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002203278] |
Chr19:11123244 [GRCh38]
Chr19:11233920 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1702C>T (p.Leu568=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004046426]|Familial hypercholesterolemia [RCV002081531] |
Chr19:11116209 [GRCh38]
Chr19:11226885 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.941-10C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002119717]|Hypercholesterolemia, familial, 1 [RCV004005367] |
Chr19:11110642 [GRCh38]
Chr19:11221318 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1314C>T (p.Ser438=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002179298] |
Chr19:11113405 [GRCh38]
Chr19:11224081 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2346G>A (p.Lys782=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002179588] |
Chr19:11128042 [GRCh38]
Chr19:11238718 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2311+9T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002156759] |
Chr19:11123353 [GRCh38]
Chr19:11234029 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1779C>A (p.Gly593=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002181380] |
Chr19:11116932 [GRCh38]
Chr19:11227608 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2141-7C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002203912] |
Chr19:11123167 [GRCh38]
Chr19:11233843 [GRCh37]
Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.1305G>A (p.Glu435=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002141818] |
Chr19:11113396 [GRCh38]
Chr19:11224072 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2469T>C (p.Phe823=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002178244]|Hypercholesterolemia, familial, 1 [RCV004011225] |
Chr19:11129592 [GRCh38]
Chr19:11240268 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1178A>C (p.Lys393Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227555] |
Chr19:11111631 [GRCh38]
Chr19:11222307 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388665]|Hypercholesterolemia, familial, 1 [RCV002227556] |
Chr19:11113646 [GRCh38]
Chr19:11224322 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1950G>A (p.Glu650=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002423298]|Familial hypercholesterolemia [RCV002156847] |
Chr19:11120196 [GRCh38]
Chr19:11230872 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2389+9G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002099380] |
Chr19:11128094 [GRCh38]
Chr19:11238770 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.373_379del (p.Gln125fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV002222065] |
Chr19:11105278..11105284 [GRCh38]
Chr19:11215954..11215960 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2274G>A (p.Gly758=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002139051] |
Chr19:11123307 [GRCh38]
Chr19:11233983 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NC_000019.9:g.(?_11240169)_(11240366_?)del |
deletion |
Familial hypercholesterolemia [RCV003111347] |
Chr19:11240169..11240366 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11217221)_(11217383_?)del |
deletion |
Familial hypercholesterolemia [RCV003111348] |
Chr19:11217221..11217383 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11218048)_(11218210_?)del |
deletion |
Familial hypercholesterolemia [RCV003111349] |
Chr19:11218048..11218210 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11227515)_(11241992_?)del |
deletion |
Familial hypercholesterolemia [RCV003111350] |
Chr19:11227515..11241992 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11233830)_(11238781_?)del |
deletion |
Familial hypercholesterolemia [RCV003111351] |
Chr19:11233830..11238781 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11215876)_(11241992_?)del |
deletion |
Familial hypercholesterolemia [RCV003111352] |
Chr19:11215876..11241992 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11223934)_(11234040_?)del |
deletion |
Familial hypercholesterolemia [RCV003111353] |
Chr19:11223934..11234040 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11238664)_(11238781_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111354] |
Chr19:11238664..11238781 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.9:g.(?_11241937)_(11241992_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111355] |
Chr19:11241937..11241992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.9:g.(?_11230748)_(11231218_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111356] |
Chr19:11230748..11231218 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11230748)_(11234040_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111357] |
Chr19:11230748..11234040 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11210879)_(11218210_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111358] |
Chr19:11210879..11218210 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(?_11210879)_(11221467_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111359] |
Chr19:11210879..11221467 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.9:g.(?_11213330)_(11227689_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111360] |
Chr19:11213330..11227689 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(?_11223934)_(11224458_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111361] |
Chr19:11223934..11224458 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11230748)_(11234040_?)del |
deletion |
Familial hypercholesterolemia [RCV003111362] |
Chr19:11230748..11234040 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11223934)_(11231218_?)del |
deletion |
Familial hypercholesterolemia [RCV003111363] |
Chr19:11223934..11231218 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11223934)_(11241992_?)del |
deletion |
Familial hypercholesterolemia [RCV003111364] |
Chr19:11223934..11241992 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NC_000019.9:g.(?_11234271)_(11242805_?)dup |
duplication |
Familial hypercholesterolemia [RCV003111365] |
Chr19:11234271..11242805 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2138C>T (p.Thr713Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003118432] |
Chr19:11120520 [GRCh38]
Chr19:11231196 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.727T>A (p.Cys243Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227553]|not provided [RCV003229059] |
Chr19:11106597 [GRCh38]
Chr19:11217273 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.764G>T (p.Cys255Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227554] |
Chr19:11106634 [GRCh38]
Chr19:11217310 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1980G>C (p.Gln660His) |
single nucleotide variant |
Cardiovascular phenotype [RCV003163918]|Hypercholesterolemia, familial, 1 [RCV002227547] |
Chr19:11120226 [GRCh38]
Chr19:11230902 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.378C>A (p.Phe126Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002227549] |
Chr19:11105284 [GRCh38]
Chr19:11215960 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.52G>C (p.Ala18Pro) |
single nucleotide variant |
not specified [RCV002247944] |
Chr19:11089600 [GRCh38]
Chr19:11200276 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1177_1181dup (p.Val395fs) |
duplication |
not provided [RCV002248285] |
Chr19:11111627..11111628 [GRCh38]
Chr19:11222303..11222304 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.176C>T (p.Ser59Phe) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003131468] |
Chr19:11100331 [GRCh38]
Chr19:11211007 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1732G>T (p.Val578Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002405316]|Familial hypercholesterolemia [RCV002541095]|Hypercholesterolemia, familial, 1 [RCV002227546] |
Chr19:11116885 [GRCh38]
Chr19:11227561 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.941-3C>G |
single nucleotide variant |
not provided [RCV003235870] |
Chr19:11110649 [GRCh38]
Chr19:11221325 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1925T>G (p.Leu642Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003297560] |
Chr19:11120171 [GRCh38]
Chr19:11230847 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003097822]|not provided [RCV002292978] |
Chr19:11113278 [GRCh38]
Chr19:11223954 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2139A>G (p.Thr713=) |
single nucleotide variant |
not provided [RCV002275533] |
Chr19:11120521 [GRCh38]
Chr19:11231197 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.190+172C>T |
single nucleotide variant |
not provided [RCV002293848] |
Chr19:11100517 [GRCh38]
Chr19:11211193 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.10_40delinsCGGGGGCTGGAAATTGCGCTGGACCGTCGCC (p.Trp4_Ala13delinsArgGlyLeuGluIleAlaLeuAspArgArg) |
indel |
Cardiovascular phenotype [RCV002435365] |
Chr19:11089558..11089588 [GRCh38]
Chr19:11200234..11200264 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.190+58C>T |
single nucleotide variant |
not provided [RCV002293894] |
Chr19:11100403 [GRCh38]
Chr19:11211079 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.67+140C>T |
single nucleotide variant |
not provided [RCV002293946] |
Chr19:11089755 [GRCh38]
Chr19:11200431 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.680A>G (p.Asp227Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002293964] |
Chr19:11105586 [GRCh38]
Chr19:11216262 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1061-2A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV002289414] |
Chr19:11111512 [GRCh38]
Chr19:11222188 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.804T>C (p.Val268=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419331]|Familial hypercholesterolemia [RCV003776476] |
Chr19:11106674 [GRCh38]
Chr19:11217350 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1955dup (p.Met652fs) |
duplication |
Cardiovascular phenotype [RCV002421603] |
Chr19:11120200..11120201 [GRCh38]
Chr19:11230876..11230877 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1338del (p.Ser447fs) |
deletion |
Abnormal circulating lipid concentration [RCV002283589] |
Chr19:11113429 [GRCh38]
Chr19:11224105 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.302A>C (p.Glu101Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435968] |
Chr19:11102775 [GRCh38]
Chr19:11213451 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.635_643dup (p.Trp214_Arg215insProSerTrp) |
duplication |
Cardiovascular phenotype [RCV002368981] |
Chr19:11105540..11105541 [GRCh38]
Chr19:11216216..11216217 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.677C>T (p.Ser226Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002369352]|Familial hypercholesterolemia [RCV003098375] |
Chr19:11105583 [GRCh38]
Chr19:11216259 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1298A>T (p.Asp433Val) |
single nucleotide variant |
Abnormal circulating lipid concentration [RCV002283590] |
Chr19:11113389 [GRCh38]
Chr19:11224065 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.670G>C (p.Asp224His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002367202] |
Chr19:11105576 [GRCh38]
Chr19:11216252 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2034G>T (p.Gln678His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419830] |
Chr19:11120416 [GRCh38]
Chr19:11231092 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1070A>T (p.Glu357Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421554] |
Chr19:11111523 [GRCh38]
Chr19:11222199 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs) |
deletion |
Cardiovascular phenotype [RCV002385138]|Hypercholesterolemia, familial, 1 [RCV002471281] |
Chr19:11113335..11113336 [GRCh38]
Chr19:11224011..11224012 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer) |
duplication |
Cardiovascular phenotype [RCV002366854] |
Chr19:11105570..11105571 [GRCh38]
Chr19:11216246..11216247 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2384C>G (p.Pro795Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004314244] |
Chr19:11128080 [GRCh38]
Chr19:11238756 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1810_1811del (p.Arg604fs) |
microsatellite |
Cardiovascular phenotype [RCV002410161] |
Chr19:11116961..11116962 [GRCh38]
Chr19:11227637..11227638 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1821C>G (p.His607Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410359] |
Chr19:11116974 [GRCh38]
Chr19:11227650 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.*18C>T |
single nucleotide variant |
not specified [RCV002469985] |
Chr19:11131334 [GRCh38]
Chr19:11242010 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV002468876] |
Chr19:11215396..11244426 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.415_416del (p.Asp139fs) |
deletion |
Cardiovascular phenotype [RCV002333236] |
Chr19:11105320..11105321 [GRCh38]
Chr19:11215996..11215997 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.262A>T (p.Arg88Trp) |
single nucleotide variant |
not specified [RCV002302470] |
Chr19:11102735 [GRCh38]
Chr19:11213411 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2114_2120delinsG (p.Ala705_Asp707delinsGly) |
indel |
Cardiovascular phenotype [RCV002417525] |
Chr19:11120496..11120502 [GRCh38]
Chr19:11231172..11231178 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1706A>G (p.Asp569Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398797]|LDLR-related condition [RCV003418510] |
Chr19:11116859 [GRCh38]
Chr19:11227535 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1304_1307delinsTGGC (p.Glu435_Val436delinsValAla) |
indel |
Cardiovascular phenotype [RCV002380907] |
Chr19:11113395..11113398 [GRCh38]
Chr19:11224071..11224074 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2051C>T (p.Ala684Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421827]|Hypercholesterolemia, familial, 1 [RCV004007394] |
Chr19:11120433 [GRCh38]
Chr19:11231109 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1399_1400delinsTA (p.Thr467Tyr) |
indel |
Cardiovascular phenotype [RCV002389164] |
Chr19:11113575..11113576 [GRCh38]
Chr19:11224251..11224252 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1169del (p.Lys390fs) |
deletion |
Cardiovascular phenotype [RCV002328193] |
Chr19:11111621 [GRCh38]
Chr19:11222297 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.888C>G (p.Cys296Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002375991]|Familial hypercholesterolemia [RCV003100047] |
Chr19:11107462 [GRCh38]
Chr19:11218138 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.330C>T (p.Ser110=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326292] |
Chr19:11105236 [GRCh38]
Chr19:11215912 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.796G>C (p.Asp266His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416922]|Familial hypercholesterolemia [RCV003103462] |
Chr19:11106666 [GRCh38]
Chr19:11217342 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.1903A>C (p.Thr635Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408295] |
Chr19:11120149 [GRCh38]
Chr19:11230825 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.477C>G (p.Thr159=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337768]|Familial hypercholesterolemia [RCV003096461] |
Chr19:11105383 [GRCh38]
Chr19:11216059 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.845T>A (p.Phe282Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447556] |
Chr19:11107419 [GRCh38]
Chr19:11218095 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.334_349dup (p.His117fs) |
duplication |
Cardiovascular phenotype [RCV002326588] |
Chr19:11105239..11105240 [GRCh38]
Chr19:11215915..11215916 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1304A>G (p.Glu435Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380911] |
Chr19:11113395 [GRCh38]
Chr19:11224071 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1775G>T (p.Gly592Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401885] |
Chr19:11116928 [GRCh38]
Chr19:11227604 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.6G>A (p.Gly2=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002364780] |
Chr19:11089554 [GRCh38]
Chr19:11200230 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1053A>G (p.Arg351=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002405888] |
Chr19:11110764 [GRCh38]
Chr19:11221440 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328641]|Familial hypercholesterolemia [RCV003741305] |
Chr19:11111630 [GRCh38]
Chr19:11222306 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.2086T>G (p.Cys696Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002423959] |
Chr19:11120468 [GRCh38]
Chr19:11231144 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1518G>A (p.Val506=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002392362]|Familial hypercholesterolemia [RCV003741311] |
Chr19:11113694 [GRCh38]
Chr19:11224370 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2340del (p.Asn780fs) |
deletion |
Cardiovascular phenotype [RCV002457688] |
Chr19:11128036 [GRCh38]
Chr19:11238712 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1613_1622del (p.Thr538fs) |
deletion |
Cardiovascular phenotype [RCV002400934] |
Chr19:11116118..11116127 [GRCh38]
Chr19:11226794..11226803 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1622A>G (p.Lys541Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401083]|Familial hypercholesterolemia [RCV003100760] |
Chr19:11116129 [GRCh38]
Chr19:11226805 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.967G>C (p.Gly323Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376561] |
Chr19:11110678 [GRCh38]
Chr19:11221354 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1988-50_2007del |
deletion |
Cardiovascular phenotype [RCV002423768] |
Chr19:11120319..11120388 [GRCh38]
Chr19:11230995..11231064 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.695-1G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002378150]|Familial hypercholesterolemia [RCV003098427] |
Chr19:11106564 [GRCh38]
Chr19:11217240 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.425C>T (p.Ser142Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002298272] |
Chr19:11105331 [GRCh38]
Chr19:11216007 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1895A>G (p.Asn632Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408090] |
Chr19:11120141 [GRCh38]
Chr19:11230817 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2336G>C (p.Gly779Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448238] |
Chr19:11128032 [GRCh38]
Chr19:11238708 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1987+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002423752] |
Chr19:11120234 [GRCh38]
Chr19:11230910 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.400T>A (p.Cys134Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357847] |
Chr19:11105306 [GRCh38]
Chr19:11215982 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1623G>A (p.Lys541=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401106] |
Chr19:11116130 [GRCh38]
Chr19:11226806 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2447A>G (p.Lys816Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002455408] |
Chr19:11129570 [GRCh38]
Chr19:11240246 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2478C>G (p.Pro826=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002455579] |
Chr19:11129601 [GRCh38]
Chr19:11240277 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2547+1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002455811] |
Chr19:11129671 [GRCh38]
Chr19:11240347 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.508_510del (p.Asp170del) |
deletion |
Cardiovascular phenotype [RCV002335890] |
Chr19:11105412..11105414 [GRCh38]
Chr19:11216088..11216090 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.520G>A (p.Glu174Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002340781] |
Chr19:11105426 [GRCh38]
Chr19:11216102 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2253G>T (p.Arg751=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443586] |
Chr19:11123286 [GRCh38]
Chr19:11233962 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1431C>G (p.Asp477Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002295402] |
Chr19:11113607 [GRCh38]
Chr19:11224283 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.753C>T (p.Gly251=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393929]|Hypercholesterolemia, familial, 1 [RCV004005750] |
Chr19:11106623 [GRCh38]
Chr19:11217299 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1597T>A (p.Trp533Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398548] |
Chr19:11116104 [GRCh38]
Chr19:11226780 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1176C>T (p.Cys392=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328442]|Hypercholesterolemia, familial, 1 [RCV004005662] |
Chr19:11111629 [GRCh38]
Chr19:11222305 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.246C>G (p.Cys82Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430773] |
Chr19:11102719 [GRCh38]
Chr19:11213395 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.454A>G (p.Ser152Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002340145] |
Chr19:11105360 [GRCh38]
Chr19:11216036 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2389+41C>T |
single nucleotide variant |
not provided [RCV002302639] |
Chr19:11128126 [GRCh38]
Chr19:11238802 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs) |
indel |
Cardiovascular phenotype [RCV002410906] |
Chr19:11102666..11102675 [GRCh38]
Chr19:11213342..11213351 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.603G>A (p.Glu201=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358221]|Familial hypercholesterolemia [RCV003581846] |
Chr19:11105509 [GRCh38]
Chr19:11216185 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406193]|Familial hypercholesterolemia [RCV003741312] |
Chr19:11116200 [GRCh38]
Chr19:11226876 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.136_142del (p.Cys46fs) |
deletion |
Cardiovascular phenotype [RCV002383474] |
Chr19:11100291..11100297 [GRCh38]
Chr19:11210967..11210973 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1072T>G (p.Cys358Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002423856] |
Chr19:11111525 [GRCh38]
Chr19:11222201 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.4(LDLR):c.1706_1715delATCTCCTCAG |
deletion |
Cardiovascular phenotype [RCV002414737] |
Chr19:11116857..11116866 [GRCh38]
Chr19:11227533..11227542 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2099_2102dup (p.Met702fs) |
duplication |
Cardiovascular phenotype [RCV002424147] |
Chr19:11120477..11120478 [GRCh38]
Chr19:11231153..11231154 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2337_2354del (p.Asn780_Ser785del) |
deletion |
Cardiovascular phenotype [RCV002457660] |
Chr19:11128032..11128049 [GRCh38]
Chr19:11238708..11238725 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1129T>C (p.Cys377Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326125]|Familial hypercholesterolemia [RCV003581819] |
Chr19:11111582 [GRCh38]
Chr19:11222258 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+235C>T |
single nucleotide variant |
not provided [RCV002300992] |
Chr19:11128320 [GRCh38]
Chr19:11238996 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1587-3C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002398327]|not specified [RCV003235720] |
Chr19:11116091 [GRCh38]
Chr19:11226767 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1174T>A (p.Cys392Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002333842] |
Chr19:11111627 [GRCh38]
Chr19:11222303 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.530C>G (p.Ser177Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002344638] |
Chr19:11105436 [GRCh38]
Chr19:11216112 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1834G>C (p.Ala612Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002412708] |
Chr19:11116987 [GRCh38]
Chr19:11227663 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.648_665del (p.Asp217_Cys222del) |
deletion |
Cardiovascular phenotype [RCV002356208] |
Chr19:11105551..11105568 [GRCh38]
Chr19:11216227..11216244 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.884T>G (p.Val295Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002373828] |
Chr19:11107458 [GRCh38]
Chr19:11218134 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.939C>T (p.Cys313=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002373875]|Familial hypercholesterolemia [RCV003103583]|Hypercholesterolemia, familial, 1 [RCV004007285] |
Chr19:11107513 [GRCh38]
Chr19:11218189 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1664T>G (p.Leu555Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395110]|Familial hypercholesterolemia [RCV003581859] |
Chr19:11116171 [GRCh38]
Chr19:11226847 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1164del (p.His388fs) |
deletion |
Cardiovascular phenotype [RCV002323293] |
Chr19:11111617 [GRCh38]
Chr19:11222293 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.15C>T (p.Gly5=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398662] |
Chr19:11089563 [GRCh38]
Chr19:11200239 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1876G>T (p.Glu626Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415206] |
Chr19:11120122 [GRCh38]
Chr19:11230798 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2312-2A>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002446457] |
Chr19:11128006 [GRCh38]
Chr19:11238682 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1224G>A (p.Glu408=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356275]|Familial hypercholesterolemia [RCV003098271] |
Chr19:11113315 [GRCh38]
Chr19:11223991 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1846-3T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002412932] |
Chr19:11120089 [GRCh38]
Chr19:11230765 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.678del (p.Asp227fs) |
deletion |
Cardiovascular phenotype [RCV002369394] |
Chr19:11105584 [GRCh38]
Chr19:11216260 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1304A>T (p.Glu435Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380912] |
Chr19:11113395 [GRCh38]
Chr19:11224071 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2502dup (p.Glu835Ter) |
duplication |
Cardiovascular phenotype [RCV002455623] |
Chr19:11129624..11129625 [GRCh38]
Chr19:11240300..11240301 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.851G>A (p.Cys284Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414422] |
Chr19:11107425 [GRCh38]
Chr19:11218101 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1575T>C (p.Asp525=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003016072] |
Chr19:11113751 [GRCh38]
Chr19:11224427 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2365G>T (p.Ala789Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003013165] |
Chr19:11128061 [GRCh38]
Chr19:11238737 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4:c.191_694del |
deletion |
not provided [RCV002481111] |
|
pathogenic |
| NM_000527.5(LDLR):c.1_67del (p.Met1fs) |
deletion |
not provided [RCV002481112] |
Chr19:11089549..11089615 [GRCh38]
Chr19:11200225..11200291 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.658_659delinsTGTGATGG (p.Pro220delinsCysAspGly) |
indel |
Familial hypercholesterolemia [RCV002903862] |
Chr19:11105564..11105565 [GRCh38]
Chr19:11216240..11216241 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1221C>A (p.His407Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002616406]|not provided [RCV003738299] |
Chr19:11113312 [GRCh38]
Chr19:11223988 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1060G>A (p.Asp354Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003074993] |
Chr19:11110771 [GRCh38]
Chr19:11221447 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2091C>T (p.Ala697=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003015055] |
Chr19:11120473 [GRCh38]
Chr19:11231149 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.-80T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004007475]|not provided [RCV002481144] |
Chr19:11089469 [GRCh38]
Chr19:11200145 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2298A>G (p.Thr766=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003017756] |
Chr19:11123331 [GRCh38]
Chr19:11234007 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.602A>C (p.Glu201Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002750246] |
Chr19:11105508 [GRCh38]
Chr19:11216184 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2220C>T (p.His740=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002861510] |
Chr19:11123253 [GRCh38]
Chr19:11233929 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-9T>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002971859]|Hypercholesterolemia, familial, 1 [RCV004007733] |
Chr19:11105211 [GRCh38]
Chr19:11215887 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.906C>A (p.Cys302Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003074991] |
Chr19:11107480 [GRCh38]
Chr19:11218156 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.920A>C (p.Asp307Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003074992] |
Chr19:11107494 [GRCh38]
Chr19:11218170 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1060+133C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002512501] |
Chr19:11110904 [GRCh38]
Chr19:11221580 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2459_2460insTGATGAGGATGGACAGAGAAGGTCTCTGATAAGATTTGTTTCTTTTGCCTCTCCCCTCTCCCCTCTCCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACATCAACAG (p.Ser820_Ile821insAspGluAspGlyGlnArgArgSerLeuIleArgPheValSerPheAlaSerProLeuSerProLeuProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysLysLysAsnIleAsnSer) |
insertion |
Familial hypercholesterolemia [RCV002816138] |
Chr19:11129568..11129569 [GRCh38]
Chr19:11240244..11240245 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.873C>T (p.Thr291=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002681277] |
Chr19:11107447 [GRCh38]
Chr19:11218123 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1999T>G (p.Cys667Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002614206] |
Chr19:11120381 [GRCh38]
Chr19:11231057 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1794_1795del (p.Leu599fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV003128550] |
Chr19:11116946..11116947 [GRCh38]
Chr19:11227622..11227623 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.-22C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002837960] |
Chr19:11089527 [GRCh38]
Chr19:11200203 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1298A>C (p.Asp433Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002755705] |
Chr19:11113389 [GRCh38]
Chr19:11224065 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1186+15G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV004068188]|Familial hypercholesterolemia [RCV002975215] |
Chr19:11111654 [GRCh38]
Chr19:11222330 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.511C>A (p.Pro171Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002908524] |
Chr19:11105417 [GRCh38]
Chr19:11216093 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.67+6G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003076190] |
Chr19:11089621 [GRCh38]
Chr19:11200297 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.102C>T (p.Cys34=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002618145]|Hypercholesterolemia, familial, 1 [RCV004007513] |
Chr19:11100257 [GRCh38]
Chr19:11210933 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.873C>A (p.Thr291=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003033783] |
Chr19:11107447 [GRCh38]
Chr19:11218123 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.466_471del (p.Asn156_Ser157del) |
deletion |
Familial hypercholesterolemia [RCV002997047] |
Chr19:11105370..11105375 [GRCh38]
Chr19:11216046..11216051 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2547+8A>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002705853] |
Chr19:11129678 [GRCh38]
Chr19:11240354 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1497T>C (p.Ser499=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003021994] |
Chr19:11113673 [GRCh38]
Chr19:11224349 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2326G>C (p.Ala776Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002846414] |
Chr19:11128022 [GRCh38]
Chr19:11238698 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1988-3dup |
duplication |
Familial hypercholesterolemia [RCV003055207] |
Chr19:11120363..11120364 [GRCh38]
Chr19:11231039..11231040 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.386A>C (p.Asp129Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003021566] |
Chr19:11105292 [GRCh38]
Chr19:11215968 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.236T>A (p.Val79Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002705693] |
Chr19:11102709 [GRCh38]
Chr19:11213385 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2095C>T (p.Pro699Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002622849] |
Chr19:11120477 [GRCh38]
Chr19:11231153 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1433G>T (p.Gly478Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003021650] |
Chr19:11113609 [GRCh38]
Chr19:11224285 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.314-10A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002914330] |
Chr19:11105210 [GRCh38]
Chr19:11215886 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+4C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002780300] |
Chr19:11113766 [GRCh38]
Chr19:11224442 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1061-9C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002761581] |
Chr19:11111505 [GRCh38]
Chr19:11222181 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1911C>A (p.Ser637=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003038857] |
Chr19:11120157 [GRCh38]
Chr19:11230833 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.483C>T (p.Ile161=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002889751] |
Chr19:11105389 [GRCh38]
Chr19:11216065 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.273C>T (p.Gly91=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002886693] |
Chr19:11102746 [GRCh38]
Chr19:11213422 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1758A>G (p.Ser586=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002659596] |
Chr19:11116911 [GRCh38]
Chr19:11227587 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2548-7T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003020268] |
Chr19:11131274 [GRCh38]
Chr19:11241950 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.111G>C (p.Gly37=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003019497] |
Chr19:11100266 [GRCh38]
Chr19:11210942 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1559G>T (p.Arg520Met) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003020472] |
Chr19:11113735 [GRCh38]
Chr19:11224411 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2106G>C (p.Met702Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002923322] |
Chr19:11120488 [GRCh38]
Chr19:11231164 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1706-8G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002796585] |
Chr19:11116851 [GRCh38]
Chr19:11227527 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1963T>C (p.Phe655Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003079228] |
Chr19:11120209 [GRCh38]
Chr19:11230885 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.477C>A (p.Thr159=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002846931] |
Chr19:11105383 [GRCh38]
Chr19:11216059 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.867C>T (p.Cys289=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002870822] |
Chr19:11107441 [GRCh38]
Chr19:11218117 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.941-7T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002691061] |
Chr19:11110645 [GRCh38]
Chr19:11221321 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.715G>A (p.Asp239Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002761653] |
Chr19:11106585 [GRCh38]
Chr19:11217261 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2046C>T (p.Leu682=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003036470] |
Chr19:11120428 [GRCh38]
Chr19:11231104 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2121_2128dup (p.Ser710delinsThrTer) |
duplication |
Familial hypercholesterolemia [RCV003036758] |
Chr19:11120499..11120500 [GRCh38]
Chr19:11231175..11231176 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.759G>T (p.Arg253=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002620455] |
Chr19:11106629 [GRCh38]
Chr19:11217305 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.174G>A (p.Glu58=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002847720] |
Chr19:11100329 [GRCh38]
Chr19:11211005 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.818-7C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002592473] |
Chr19:11107385 [GRCh38]
Chr19:11218061 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2390-7C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002952430] |
Chr19:11129506 [GRCh38]
Chr19:11240182 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-3C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002866172] |
Chr19:11105217 [GRCh38]
Chr19:11215893 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.373_383delinsAAGTGCA (p.Gln125fs) |
indel |
Familial hypercholesterolemia [RCV002999620] |
Chr19:11105279..11105289 [GRCh38]
Chr19:11215955..11215965 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1214A>G (p.Asn405Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003078149] |
Chr19:11113305 [GRCh38]
Chr19:11223981 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1187-3dup |
duplication |
Familial hypercholesterolemia [RCV002736299] |
Chr19:11113270..11113271 [GRCh38]
Chr19:11223946..11223947 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.223T>G (p.Cys75Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002952889] |
Chr19:11102696 [GRCh38]
Chr19:11213372 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1987+19C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002926663] |
Chr19:11120252 [GRCh38]
Chr19:11230928 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.195T>C (p.Ser65=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002694929] |
Chr19:11102668 [GRCh38]
Chr19:11213344 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+4C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003021401] |
Chr19:11113766 [GRCh38]
Chr19:11224442 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.987C>T (p.Cys329=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003038934] |
Chr19:11110698 [GRCh38]
Chr19:11221374 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.105A>G (p.Gln35=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003038631] |
Chr19:11100260 [GRCh38]
Chr19:11210936 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1086C>T (p.Asp362=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003053479] |
Chr19:11111539 [GRCh38]
Chr19:11222215 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2273G>T (p.Gly758Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002932158] |
Chr19:11123306 [GRCh38]
Chr19:11233982 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.601G>C (p.Glu201Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002711917] |
Chr19:11105507 [GRCh38]
Chr19:11216183 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1287G>A (p.Val429=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002853090] |
Chr19:11113378 [GRCh38]
Chr19:11224054 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.941-16C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002957964] |
Chr19:11110636 [GRCh38]
Chr19:11221312 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.673_675inv (p.Lys225Phe) |
inversion |
Familial hypercholesterolemia [RCV003043620] |
Chr19:11105579..11105581 [GRCh38]
Chr19:11216255..11216257 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.670_672del (p.Asp224del) |
deletion |
Familial hypercholesterolemia [RCV003043619] |
Chr19:11105576..11105578 [GRCh38]
Chr19:11216252..11216254 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1287G>C (p.Val429=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002958770] |
Chr19:11113378 [GRCh38]
Chr19:11224054 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1238C>G (p.Thr413Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002805603] |
Chr19:11113329 [GRCh38]
Chr19:11224005 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2370G>C (p.Leu790=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002871778] |
Chr19:11128066 [GRCh38]
Chr19:11238742 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1812G>A (p.Arg604=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002852727] |
Chr19:11116965 [GRCh38]
Chr19:11227641 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2114C>T (p.Ala705Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002802006] |
Chr19:11120496 [GRCh38]
Chr19:11231172 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2381T>A (p.Leu794His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003022818] |
Chr19:11128077 [GRCh38]
Chr19:11238753 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1134G>A (p.Gln378=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002891091]|Hypercholesterolemia, familial, 1 [RCV004007665] |
Chr19:11111587 [GRCh38]
Chr19:11222263 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NR_163945.1(LDLR-AS1):n.318A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002574039] |
Chr19:11089342 [GRCh38]
Chr19:11200018 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.940+9C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003057902] |
Chr19:11107523 [GRCh38]
Chr19:11218199 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1068T>C (p.Asp356=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002741071] |
Chr19:11111521 [GRCh38]
Chr19:11222197 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.133G>A (p.Val45Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003023650] |
Chr19:11100288 [GRCh38]
Chr19:11210964 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.281A>T (p.Asp94Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002508175] |
Chr19:11102754 [GRCh38]
Chr19:11213430 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2085C>T (p.Thr695=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002851052] |
Chr19:11120467 [GRCh38]
Chr19:11231143 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.667_677del (p.Cys222_Lys223insTer) |
deletion |
Familial hypercholesterolemia [RCV003008092] |
Chr19:11105572..11105582 [GRCh38]
Chr19:11216248..11216258 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2395dup (p.Leu799fs) |
duplication |
Familial hypercholesterolemia [RCV003040899] |
Chr19:11129516..11129517 [GRCh38]
Chr19:11240192..11240193 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1470G>T (p.Trp490Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003041352]|not provided [RCV003318737] |
Chr19:11113646 [GRCh38]
Chr19:11224322 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1885_1889delinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro) |
indel |
Familial hypercholesterolemia [RCV003041354] |
Chr19:11120131..11120135 [GRCh38]
Chr19:11230807..11230811 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.663C>T (p.Asp221=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003025141] |
Chr19:11105569 [GRCh38]
Chr19:11216245 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1102T>A (p.Cys368Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003042122] |
Chr19:11111555 [GRCh38]
Chr19:11222231 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2049T>G (p.Pro683=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002700688] |
Chr19:11120431 [GRCh38]
Chr19:11231107 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1060+12G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002928740] |
Chr19:11110783 [GRCh38]
Chr19:11221459 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1438G>T (p.Ala480Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002643933] |
Chr19:11113614 [GRCh38]
Chr19:11224290 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.900A>G (p.Arg300=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002623402] |
Chr19:11107474 [GRCh38]
Chr19:11218150 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2141A>C (p.Glu714Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003084619] |
Chr19:11123174 [GRCh38]
Chr19:11233850 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1407C>T (p.Ile469=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003084527] |
Chr19:11113583 [GRCh38]
Chr19:11224259 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.156C>T (p.Cys52=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003006254] |
Chr19:11100311 [GRCh38]
Chr19:11210987 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.*2098C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV002789931] |
Chr19:11133414 [GRCh38]
Chr19:11244090 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.11136960G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002789932] |
Chr19:11136960 [GRCh38]
Chr19:11247636 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.80G>A (p.Cys27Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002580826] |
Chr19:11100235 [GRCh38]
Chr19:11210911 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1186+20G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV002582175] |
Chr19:11111659 [GRCh38]
Chr19:11222335 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.228G>A (p.Gly76=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002582094] |
Chr19:11102701 [GRCh38]
Chr19:11213377 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2141-1G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002899277] |
Chr19:11123173 [GRCh38]
Chr19:11233849 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1166C>A (p.Thr389Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003030428] |
Chr19:11111619 [GRCh38]
Chr19:11222295 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1061-143C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003065575] |
Chr19:11111371 [GRCh38]
Chr19:11222047 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.190+10C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002600638] |
Chr19:11100355 [GRCh38]
Chr19:11211031 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.893dup (p.Met298fs) |
duplication |
Familial hypercholesterolemia [RCV002806748] |
Chr19:11107466..11107467 [GRCh38]
Chr19:11218142..11218143 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.940+6T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002671282] |
Chr19:11107520 [GRCh38]
Chr19:11218196 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.669G>A (p.Lys223=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003010304] |
Chr19:11105575 [GRCh38]
Chr19:11216251 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1988-17del |
deletion |
Familial hypercholesterolemia [RCV002746680] |
Chr19:11120352 [GRCh38]
Chr19:11231028 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-166A>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003062905] |
Chr19:11089383 [GRCh38]
Chr19:11200059 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.818-5C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002961975] |
Chr19:11107387 [GRCh38]
Chr19:11218063 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1729T>A (p.Trp577Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002599006] |
Chr19:11116882 [GRCh38]
Chr19:11227558 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1435C>T (p.Leu479=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002811251] |
Chr19:11113611 [GRCh38]
Chr19:11224287 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.93G>A (p.Glu31=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002856676] |
Chr19:11100248 [GRCh38]
Chr19:11210924 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1692T>G (p.Asn564Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003087769]|not provided [RCV003443122] |
Chr19:11116199 [GRCh38]
Chr19:11226875 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1358+7G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV002579223] |
Chr19:11113456 [GRCh38]
Chr19:11224132 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2077A>C (p.Lys693Gln) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002672174] |
Chr19:11120459 [GRCh38]
Chr19:11231135 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1938A>G (p.Leu646=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002877575] |
Chr19:11120184 [GRCh38]
Chr19:11230860 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1346G>T (p.Arg449Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002599470] |
Chr19:11113437 [GRCh38]
Chr19:11224113 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2127G>A (p.Arg709=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002597652] |
Chr19:11120509 [GRCh38]
Chr19:11231185 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NR_163945.1(LDLR-AS1):n.326T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003011037]|Hypercholesterolemia, familial, 1 [RCV004007755] |
Chr19:11089334 [GRCh38]
Chr19:11200010 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2140+13C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV002646818] |
Chr19:11120535 [GRCh38]
Chr19:11231211 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.762G>A (p.Gln254=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002900050]|Hypercholesterolemia, familial, 1 [RCV004007660] |
Chr19:11106632 [GRCh38]
Chr19:11217308 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2061C>T (p.Ile687=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002961976] |
Chr19:11120443 [GRCh38]
Chr19:11231119 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1067_1068insAGAGTGTCAGGATCCCGA (p.Ile355_Asp356insGluGluCysGlnAspPro) |
insertion |
Familial hypercholesterolemia [RCV003061884] |
Chr19:11111517..11111518 [GRCh38]
Chr19:11222193..11222194 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1645G>C (p.Gly549Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003044686] |
Chr19:11116152 [GRCh38]
Chr19:11226828 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1048C>G (p.Arg350Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002716048] |
Chr19:11110759 [GRCh38]
Chr19:11221435 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1187-4C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003031503] |
Chr19:11113274 [GRCh38]
Chr19:11223950 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-158A>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003026386] |
Chr19:11089391 [GRCh38]
Chr19:11200067 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.972C>T (p.Gly324=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003032275] |
Chr19:11110683 [GRCh38]
Chr19:11221359 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.494G>T (p.Trp165Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003093206] |
Chr19:11105400 [GRCh38]
Chr19:11216076 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002634239] |
Chr19:11116177 [GRCh38]
Chr19:11226853 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2305C>T (p.His769Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002633838] |
Chr19:11123338 [GRCh38]
Chr19:11234014 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2009C>T (p.Thr670Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003067656]|Hypercholesterolemia, familial, 1 [RCV004009356] |
Chr19:11120391 [GRCh38]
Chr19:11231067 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1075C>A (p.Gln359Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002654045] |
Chr19:11111528 [GRCh38]
Chr19:11222204 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2374A>G (p.Ile792Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003069702] |
Chr19:11128070 [GRCh38]
Chr19:11238746 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.313+8T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003049600] |
Chr19:11102794 [GRCh38]
Chr19:11213470 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1088C>T (p.Thr363Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002721807] |
Chr19:11111541 [GRCh38]
Chr19:11222217 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.645C>T (p.Arg215=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002607608] |
Chr19:11105551 [GRCh38]
Chr19:11216227 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-178T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003072157] |
Chr19:11089371 [GRCh38]
Chr19:11200047 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1239G>C (p.Thr413=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV002680963] |
Chr19:11113330 [GRCh38]
Chr19:11224006 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.497C>A (p.Ala166Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003049585] |
Chr19:11105403 [GRCh38]
Chr19:11216079 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.403T>C (p.Leu135=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003049620] |
Chr19:11105309 [GRCh38]
Chr19:11215985 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1669A>C (p.Thr557Pro) |
single nucleotide variant |
not specified [RCV003155648] |
Chr19:11116176 [GRCh38]
Chr19:11226852 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2571T>C (p.Asp857=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003297562] |
Chr19:11131304 [GRCh38]
Chr19:11241980 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2086T>A (p.Cys696Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003188053] |
Chr19:11120468 [GRCh38]
Chr19:11231144 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.320del (p.Lys107fs) |
deletion |
Cardiovascular phenotype [RCV003188054] |
Chr19:11105225 [GRCh38]
Chr19:11215901 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.382del (p.Cys128fs) |
deletion |
not provided [RCV003222963] |
Chr19:11105288 [GRCh38]
Chr19:11215964 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.23T>A (p.Leu8Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV004280081] |
Chr19:11089571 [GRCh38]
Chr19:11200247 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.494G>A (p.Trp165Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003146940] |
Chr19:11105400 [GRCh38]
Chr19:11216076 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.694+4T>G |
single nucleotide variant |
not provided [RCV003222964] |
Chr19:11105604 [GRCh38]
Chr19:11216280 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003224966] |
Chr19:11105303 [GRCh38]
Chr19:11215979 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1549T>G (p.Ser517Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003176469] |
Chr19:11113725 [GRCh38]
Chr19:11224401 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.694+12G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003188047]|Familial hypercholesterolemia [RCV003741333] |
Chr19:11105612 [GRCh38]
Chr19:11216288 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1882A>C (p.Ile628Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003188048] |
Chr19:11120128 [GRCh38]
Chr19:11230804 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1333G>T (p.Asp445Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003188049] |
Chr19:11113424 [GRCh38]
Chr19:11224100 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.484C>T (p.Pro162Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003188050] |
Chr19:11105390 [GRCh38]
Chr19:11216066 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1361_1364del (p.Thr454fs) |
deletion |
Cardiovascular phenotype [RCV003188051] |
Chr19:11113535..11113538 [GRCh38]
Chr19:11224211..11224214 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.190+5G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV003188052] |
Chr19:11100350 [GRCh38]
Chr19:11211026 [GRCh37]
Chr19:19p13.2 |
pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1464_1465del (p.Tyr489fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV003224994] |
Chr19:11113639..11113640 [GRCh38]
Chr19:11224315..11224316 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1721G>C (p.Arg574Pro) |
single nucleotide variant |
not specified [RCV003226683] |
Chr19:11116874 [GRCh38]
Chr19:11227550 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.817+6C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581905]|Hypercholesterolemia, familial, 1 [RCV003228656] |
Chr19:11106693 [GRCh38]
Chr19:11217369 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.118A>T (p.Ile40Phe) |
single nucleotide variant |
not provided [RCV003227425] |
Chr19:11100273 [GRCh38]
Chr19:11210949 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.117C>A (p.Cys39Ter) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003146953] |
Chr19:11100272 [GRCh38]
Chr19:11210948 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(11216759_11217241)_(11217363_11217715)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV003318758] |
Chr19:11217241..11217363 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.515_516delinsTT (p.Asp172Val) |
indel |
Familial hypercholesterolemia [RCV003324394] |
Chr19:11105421..11105422 [GRCh38]
Chr19:11216097..11216098 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.314-16C>G |
single nucleotide variant |
not specified [RCV003324395] |
Chr19:11105204 [GRCh38]
Chr19:11215880 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1370A>G (p.Asp457Gly) |
single nucleotide variant |
not specified [RCV003324396] |
Chr19:11113546 [GRCh38]
Chr19:11224222 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2473_2475del (p.Asn825del) |
deletion |
Cardiovascular phenotype [RCV003283510] |
Chr19:11129594..11129596 [GRCh38]
Chr19:11240270..11240272 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1208T>C (p.Phe403Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003283511] |
Chr19:11113299 [GRCh38]
Chr19:11223975 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.515A>C (p.Asp172Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003283512] |
Chr19:11105421 [GRCh38]
Chr19:11216097 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(11212181_11213340)_(11218190_11219759)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV003318756] |
Chr19:11213340..11218190 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NC_000019.9:g.(11236353_11238684)_(11240346_11241151)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV003318759] |
Chr19:11238684..11240346 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| GRCh37/hg19 19p13.2(chr19:11210899-11222315)x3 |
copy number gain |
not provided [RCV003327018] |
Chr19:11210899..11222315 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.353A>C (p.Asp118Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003333856] |
Chr19:11105259 [GRCh38]
Chr19:11215935 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1221C>G (p.His407Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV004358870] |
Chr19:11113312 [GRCh38]
Chr19:11223988 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2389+18C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003360980] |
Chr19:11128103 [GRCh38]
Chr19:11238779 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1987+7G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV003360981] |
Chr19:11120240 [GRCh38]
Chr19:11230916 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1514G>C (p.Gly505Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV004359677] |
Chr19:11113690 [GRCh38]
Chr19:11224366 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581928]|Hypercholesterolemia, familial, 1 [RCV004009741]|not provided [RCV003332807] |
Chr19:11120216 [GRCh38]
Chr19:11230892 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2330G>T (p.Gly777Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582127] |
Chr19:11128026 [GRCh38]
Chr19:11238702 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-151C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741632]|LDLR-related condition [RCV003901246] |
Chr19:11089398 [GRCh38]
Chr19:11200074 [GRCh37]
Chr19:19p13.2 |
likely benign|uncertain significance |
| NM_000527.5(LDLR):c.1191C>A (p.Ser397=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003875554] |
Chr19:11113282 [GRCh38]
Chr19:11223958 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.138C>G (p.Cys46Trp) |
single nucleotide variant |
not provided [RCV003477286] |
Chr19:11100293 [GRCh38]
Chr19:11210969 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1474G>T (p.Asp492Tyr) |
single nucleotide variant |
not provided [RCV003477287] |
Chr19:11113650 [GRCh38]
Chr19:11224326 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.818-7C>G |
single nucleotide variant |
not provided [RCV003477292] |
Chr19:11107385 [GRCh38]
Chr19:11218061 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2244C>T (p.Asp748=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003873711] |
Chr19:11123277 [GRCh38]
Chr19:11233953 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.886T>G (p.Cys296Gly) |
single nucleotide variant |
not provided [RCV003477294] |
Chr19:11107460 [GRCh38]
Chr19:11218136 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.317C>T (p.Pro106Leu) |
single nucleotide variant |
not provided [RCV003443417] |
Chr19:11105223 [GRCh38]
Chr19:11215899 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2500G>C (p.Asp834His) |
single nucleotide variant |
not provided [RCV003477290] |
Chr19:11129623 [GRCh38]
Chr19:11240299 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.453C>T (p.Ala151=) |
single nucleotide variant |
not provided [RCV003477291] |
Chr19:11105359 [GRCh38]
Chr19:11216035 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.899G>C (p.Arg300Thr) |
single nucleotide variant |
not provided [RCV003477295] |
Chr19:11107473 [GRCh38]
Chr19:11218149 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1039_1040insA (p.Val347fs) |
insertion |
Familial hypercholesterolemia [RCV003480007] |
Chr19:11110750..11110751 [GRCh38]
Chr19:11221426..11221427 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1037T>C (p.Leu346Pro) |
single nucleotide variant |
not specified [RCV003480006] |
Chr19:11110748 [GRCh38]
Chr19:11221424 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2031C>A (p.Cys677Ter) |
single nucleotide variant |
not provided [RCV003477289] |
Chr19:11120413 [GRCh38]
Chr19:11231089 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.852T>A (p.Cys284Ter) |
single nucleotide variant |
not provided [RCV003477293] |
Chr19:11107426 [GRCh38]
Chr19:11218102 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1353C>G (p.Ile451Met) |
single nucleotide variant |
not provided [RCV003477285] |
Chr19:11113444 [GRCh38]
Chr19:11224120 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1891G>C (p.Ala631Pro) |
single nucleotide variant |
not provided [RCV003477288] |
Chr19:11120137 [GRCh38]
Chr19:11230813 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1020C>A (p.Cys340Ter) |
single nucleotide variant |
LDLR-related condition [RCV003400247] |
Chr19:11110731 [GRCh38]
Chr19:11221407 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1845+2del |
deletion |
Homozygous familial hypercholesterolemia [RCV004017989]|not provided [RCV003443959] |
Chr19:11117000 [GRCh38]
Chr19:11227676 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.*2136A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003486135] |
Chr19:11133452 [GRCh38]
Chr19:11244128 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.960del (p.Asp320fs) |
deletion |
LDLR-related condition [RCV003402366] |
Chr19:11110671 [GRCh38]
Chr19:11221347 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2583_*4del (p.Ter861CysextTer?) |
deletion |
LDLR-related condition [RCV003410581] |
Chr19:11131316..11131320 [GRCh38]
Chr19:11241992..11241996 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1351A>G (p.Ile451Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003388673] |
Chr19:11113442 [GRCh38]
Chr19:11224118 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1823C>A (p.Pro608His) |
single nucleotide variant |
LDLR-related condition [RCV003410865] |
Chr19:11116976 [GRCh38]
Chr19:11227652 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2557del (p.Val853fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV003389132] |
Chr19:11131289 [GRCh38]
Chr19:11241965 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.191-15C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582092]|Hypercholesterolemia, familial, 1 [RCV004011479] |
Chr19:11102649 [GRCh38]
Chr19:11213325 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1061-14TC[3] |
microsatellite |
Familial hypercholesterolemia [RCV003828385] |
Chr19:11111500..11111501 [GRCh38]
Chr19:11222176..11222177 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2312-14C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003829325] |
Chr19:11127994 [GRCh38]
Chr19:11238670 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1980G>A (p.Gln660=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582123]|Hypercholesterolemia, familial, 1 [RCV004011488] |
Chr19:11120226 [GRCh38]
Chr19:11230902 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1005del (p.Tyr336fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV003494557] |
Chr19:11110716 [GRCh38]
Chr19:11221392 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.190+20G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003875996] |
Chr19:11100365 [GRCh38]
Chr19:11211041 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.695-10T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582101] |
Chr19:11106555 [GRCh38]
Chr19:11217231 [GRCh37]
Chr19:19p13.2 |
conflicting interpretations of pathogenicity |
| NM_000527.5(LDLR):c.535_536delinsAT (p.Glu179Met) |
indel |
Hypercholesterolemia, familial, 1 [RCV003882772] |
Chr19:11105441..11105442 [GRCh38]
Chr19:11216117..11216118 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.780C>T (p.Asp260=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003824497] |
Chr19:11106650 [GRCh38]
Chr19:11217326 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.940+19G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003879473] |
Chr19:11107533 [GRCh38]
Chr19:11218209 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2390-16G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003828120] |
Chr19:11129497 [GRCh38]
Chr19:11240173 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1173C>T (p.Ala391=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582107] |
Chr19:11111626 [GRCh38]
Chr19:11222302 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.313+15G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003876679] |
Chr19:11102801 [GRCh38]
Chr19:11213477 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1241T>A (p.Leu414Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003526646] |
Chr19:11113332 [GRCh38]
Chr19:11224008 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2389+11G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003825060] |
Chr19:11128096 [GRCh38]
Chr19:11238772 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-89C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582087] |
Chr19:11089460 [GRCh38]
Chr19:11200136 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.536A>C (p.Glu179Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741572] |
Chr19:11105442 [GRCh38]
Chr19:11216118 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2581_2582insA (p.Ter861=) |
insertion |
Familial hypercholesterolemia [RCV003741577] |
Chr19:11131314..11131315 [GRCh38]
Chr19:11241990..11241991 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1060+11G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742577] |
Chr19:11110782 [GRCh38]
Chr19:11221458 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1693G>T (p.Gly565Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581455] |
Chr19:11116200 [GRCh38]
Chr19:11226876 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1643A>G (p.Asn548Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741379] |
Chr19:11116150 [GRCh38]
Chr19:11226826 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1358+19T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741447] |
Chr19:11113468 [GRCh38]
Chr19:11224144 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2312-1G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581467]|Homozygous familial hypercholesterolemia [RCV004017994] |
Chr19:11128007 [GRCh38]
Chr19:11238683 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NR_163945.1(LDLR-AS1):n.341del |
deletion |
Familial hypercholesterolemia [RCV003741636] |
Chr19:11089319 [GRCh38]
Chr19:11199995 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.805_813del (p.Gly269_Val271del) |
deletion |
Familial hypercholesterolemia [RCV003581547] |
Chr19:11106672..11106680 [GRCh38]
Chr19:11217348..11217356 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2016G>C (p.Leu672=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582974] |
Chr19:11120398 [GRCh38]
Chr19:11231074 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.15C>G (p.Gly5=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741742] |
Chr19:11089563 [GRCh38]
Chr19:11200239 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-7C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582935] |
Chr19:11105213 [GRCh38]
Chr19:11215889 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.975T>C (p.Cys325=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741814] |
Chr19:11110686 [GRCh38]
Chr19:11221362 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1554G>C (p.Lys518Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003583060] |
Chr19:11113730 [GRCh38]
Chr19:11224406 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1772dup (p.Asn591fs) |
duplication |
Familial hypercholesterolemia [RCV003583104] |
Chr19:11116923..11116924 [GRCh38]
Chr19:11227599..11227600 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.153G>A (p.Glu51=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003583146] |
Chr19:11100308 [GRCh38]
Chr19:11210984 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.695-15T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741918] |
Chr19:11106550 [GRCh38]
Chr19:11217226 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1201C>T (p.Leu401Phe) |
single nucleotide variant |
not provided [RCV003740600] |
Chr19:11113292 [GRCh38]
Chr19:11223968 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1794_1797del (p.Ile598fs) |
deletion |
Familial hypercholesterolemia [RCV003741969] |
Chr19:11116947..11116950 [GRCh38]
Chr19:11227623..11227626 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.314-12C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741974] |
Chr19:11105208 [GRCh38]
Chr19:11215884 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2140+20T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581970] |
Chr19:11120542 [GRCh38]
Chr19:11231218 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1358+14C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582013] |
Chr19:11113463 [GRCh38]
Chr19:11224139 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1665G>A (p.Leu555=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582027] |
Chr19:11116172 [GRCh38]
Chr19:11226848 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1846-4_1850del |
deletion |
Familial hypercholesterolemia [RCV003742040] |
Chr19:11120088..11120096 [GRCh38]
Chr19:11230764..11230772 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1846-13G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742047] |
Chr19:11120079 [GRCh38]
Chr19:11230755 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.729C>T (p.Cys243=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582086] |
Chr19:11106599 [GRCh38]
Chr19:11217275 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1274del (p.Asn425fs) |
deletion |
Familial hypercholesterolemia [RCV003582057] |
Chr19:11113364 [GRCh38]
Chr19:11224040 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.364A>C (p.Ile122Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582096] |
Chr19:11105270 [GRCh38]
Chr19:11215946 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.752G>A (p.Gly251Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582103]|Hypercholesterolemia, familial, 1 [RCV004011481] |
Chr19:11106622 [GRCh38]
Chr19:11217298 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.-74del |
deletion |
Familial hypercholesterolemia [RCV003582088] |
Chr19:11089473 [GRCh38]
Chr19:11200149 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.348C>T (p.Cys116=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582095] |
Chr19:11105254 [GRCh38]
Chr19:11215930 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.941-11G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582106] |
Chr19:11110641 [GRCh38]
Chr19:11221317 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2228C>T (p.Thr743Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582126] |
Chr19:11123261 [GRCh38]
Chr19:11233937 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2536_2538del (p.Ser846del) |
deletion |
Familial hypercholesterolemia [RCV003582129] |
Chr19:11129658..11129660 [GRCh38]
Chr19:11240334..11240336 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1171G>C (p.Ala391Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742105] |
Chr19:11111624 [GRCh38]
Chr19:11222300 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.431C>G (p.Pro144Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582098] |
Chr19:11105337 [GRCh38]
Chr19:11216013 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.695-5T>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582102] |
Chr19:11106560 [GRCh38]
Chr19:11217236 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1242G>C (p.Leu414=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582109]|Hypercholesterolemia, familial, 1 [RCV004011484] |
Chr19:11113333 [GRCh38]
Chr19:11224009 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2432A>G (p.Lys811Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582128] |
Chr19:11129555 [GRCh38]
Chr19:11240231 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.684G>A (p.Glu228=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582207] |
Chr19:11105590 [GRCh38]
Chr19:11216266 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1359-13C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740710] |
Chr19:11113522 [GRCh38]
Chr19:11224198 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.169G>C (p.Asp57His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742084] |
Chr19:11100324 [GRCh38]
Chr19:11211000 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1867A>T (p.Ile623Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740886] |
Chr19:11120113 [GRCh38]
Chr19:11230789 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.848A>C (p.Lys283Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742129] |
Chr19:11107422 [GRCh38]
Chr19:11218098 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.818-13C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740818] |
Chr19:11107379 [GRCh38]
Chr19:11218055 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2068C>T (p.His690Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740830] |
Chr19:11120450 [GRCh38]
Chr19:11231126 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1061-15_1061-14del |
deletion |
Familial hypercholesterolemia [RCV003742201] |
Chr19:11111498..11111499 [GRCh38]
Chr19:11222174..11222175 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2408_2425dup (p.Leu808_Leu809insArgLeuGlyValPheLeu) |
duplication |
Familial hypercholesterolemia [RCV003742161] |
Chr19:11129530..11129531 [GRCh38]
Chr19:11240206..11240207 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.940+7C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742141] |
Chr19:11107521 [GRCh38]
Chr19:11218197 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1626C>T (p.Ile542=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582259] |
Chr19:11116133 [GRCh38]
Chr19:11226809 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-4G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742217] |
Chr19:11105216 [GRCh38]
Chr19:11215892 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2311+12G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742232] |
Chr19:11123356 [GRCh38]
Chr19:11234032 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1309G>C (p.Ala437Pro) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582295] |
Chr19:11113400 [GRCh38]
Chr19:11224076 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1101C>T (p.Leu367=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582335] |
Chr19:11111554 [GRCh38]
Chr19:11222230 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.33C>G (p.Thr11=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740959] |
Chr19:11089581 [GRCh38]
Chr19:11200257 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1909T>A (p.Ser637Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742183] |
Chr19:11120155 [GRCh38]
Chr19:11230831 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.276del (p.Val93fs) |
deletion |
Familial hypercholesterolemia [RCV003742243] |
Chr19:11102748 [GRCh38]
Chr19:11213424 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.190+8C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582360] |
Chr19:11100353 [GRCh38]
Chr19:11211029 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1359-20C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742323] |
Chr19:11113515 [GRCh38]
Chr19:11224191 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.63T>G (p.Thr21=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740968] |
Chr19:11089611 [GRCh38]
Chr19:11200287 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.694+15A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742347] |
Chr19:11105615 [GRCh38]
Chr19:11216291 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-10A>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742365] |
Chr19:11105210 [GRCh38]
Chr19:11215886 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1060+16G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742348] |
Chr19:11110787 [GRCh38]
Chr19:11221463 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1846-1G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742271] |
Chr19:11120091 [GRCh38]
Chr19:11230767 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1706-8G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742360] |
Chr19:11116851 [GRCh38]
Chr19:11227527 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1316A>G (p.Asn439Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581134] |
Chr19:11113407 [GRCh38]
Chr19:11224083 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1599G>T (p.Trp533Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582480] |
Chr19:11116106 [GRCh38]
Chr19:11226782 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2054C>G (p.Pro685Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004369053]|Familial hypercholesterolemia [RCV003582481] |
Chr19:11120436 [GRCh38]
Chr19:11231112 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1592T>C (p.Met531Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741051]|Hypercholesterolemia, familial, 1 [RCV004005911] |
Chr19:11116099 [GRCh38]
Chr19:11226775 [GRCh37]
Chr19:19p13.2 |
likely pathogenic|uncertain significance |
| NM_000527.5(LDLR):c.1587-7C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582504] |
Chr19:11116087 [GRCh38]
Chr19:11226763 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1824C>A (p.Pro608=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742319] |
Chr19:11116977 [GRCh38]
Chr19:11227653 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1186+19C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742452] |
Chr19:11111658 [GRCh38]
Chr19:11222334 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1783C>A (p.Arg595=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582558] |
Chr19:11116936 [GRCh38]
Chr19:11227612 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2390-17C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741370] |
Chr19:11129496 [GRCh38]
Chr19:11240172 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.162T>C (p.Asp54=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742464] |
Chr19:11100317 [GRCh38]
Chr19:11210993 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1187-6C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742489] |
Chr19:11113272 [GRCh38]
Chr19:11223948 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1987+20A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742500] |
Chr19:11120253 [GRCh38]
Chr19:11230929 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1738T>A (p.Ser580Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742418] |
Chr19:11116891 [GRCh38]
Chr19:11227567 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1587-17C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581271] |
Chr19:11116077 [GRCh38]
Chr19:11226753 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1319G>T (p.Arg440Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741392] |
Chr19:11113410 [GRCh38]
Chr19:11224086 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1060+12G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582688] |
Chr19:11110783 [GRCh38]
Chr19:11221459 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1554G>A (p.Lys518=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741368] |
Chr19:11113730 [GRCh38]
Chr19:11224406 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2311+7A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741405] |
Chr19:11123351 [GRCh38]
Chr19:11234027 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.68-14T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742573] |
Chr19:11100209 [GRCh38]
Chr19:11210885 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.-56T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582612] |
Chr19:11089493 [GRCh38]
Chr19:11200169 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1165A>G (p.Thr389Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582748] |
Chr19:11111618 [GRCh38]
Chr19:11222294 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1587-3C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742523] |
Chr19:11116091 [GRCh38]
Chr19:11226767 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.525T>C (p.Asp175=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582757] |
Chr19:11105431 [GRCh38]
Chr19:11216107 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.673_682delinsTGCA (p.Lys225_Glu228delinsCysLys) |
indel |
Familial hypercholesterolemia [RCV003741479] |
Chr19:11105579..11105588 [GRCh38]
Chr19:11216255..11216264 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1988-18C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741677] |
Chr19:11120352 [GRCh38]
Chr19:11231028 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2262G>C (p.Gly754=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742254] |
Chr19:11123295 [GRCh38]
Chr19:11233971 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.940+18C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742281] |
Chr19:11107532 [GRCh38]
Chr19:11218208 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.867C>A (p.Cys289Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742286] |
Chr19:11107441 [GRCh38]
Chr19:11218117 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1437G>A (p.Leu479=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581541] |
Chr19:11113613 [GRCh38]
Chr19:11224289 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.802G>A (p.Val268Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581544] |
Chr19:11106672 [GRCh38]
Chr19:11217348 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.68-16T>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582884] |
Chr19:11100207 [GRCh38]
Chr19:11210883 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1914T>C (p.Asp638=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741692] |
Chr19:11120160 [GRCh38]
Chr19:11230836 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1358+20G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742314] |
Chr19:11113469 [GRCh38]
Chr19:11224145 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2466C>T (p.Asn822=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742327] |
Chr19:11129589 [GRCh38]
Chr19:11240265 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2379C>T (p.Val793=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003810642] |
Chr19:11128075 [GRCh38]
Chr19:11238751 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2334A>G (p.Arg778=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741065] |
Chr19:11128030 [GRCh38]
Chr19:11238706 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1609G>C (p.Gly537Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742276] |
Chr19:11116116 [GRCh38]
Chr19:11226792 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1693G>A (p.Gly565Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582357] |
Chr19:11116200 [GRCh38]
Chr19:11226876 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.201C>G (p.Thr67=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003583038] |
Chr19:11102674 [GRCh38]
Chr19:11213350 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.935A>G (p.Glu312Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741092] |
Chr19:11107509 [GRCh38]
Chr19:11218185 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.941-14C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740949]|Hypercholesterolemia, familial, 1 [RCV004005898] |
Chr19:11110638 [GRCh38]
Chr19:11221314 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2386A>G (p.Ile796Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741114]|Hypercholesterolemia, familial, 1 [RCV004005926] |
Chr19:11128082 [GRCh38]
Chr19:11238758 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2140+15T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741120] |
Chr19:11120537 [GRCh38]
Chr19:11231213 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1485G>A (p.Leu495=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003583098] |
Chr19:11113661 [GRCh38]
Chr19:11224337 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2314C>T (p.Leu772=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741022] |
Chr19:11128010 [GRCh38]
Chr19:11238686 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.818-4A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741852] |
Chr19:11107388 [GRCh38]
Chr19:11218064 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.664_672del (p.Cys222_Asp224del) |
deletion |
Familial hypercholesterolemia [RCV003741857] |
Chr19:11105567..11105575 [GRCh38]
Chr19:11216243..11216251 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.67+20C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741858] |
Chr19:11089635 [GRCh38]
Chr19:11200311 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-12C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741867] |
Chr19:11105208 [GRCh38]
Chr19:11215884 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.937_938dup (p.Gly314fs) |
duplication |
Familial hypercholesterolemia [RCV003741872] |
Chr19:11107509..11107510 [GRCh38]
Chr19:11218185..11218186 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.255_313+198del |
deletion |
Familial hypercholesterolemia [RCV003581178] |
Chr19:11102727..11102983 [GRCh38]
Chr19:11213403..11213659 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.600dup (p.Glu201fs) |
duplication |
Familial hypercholesterolemia [RCV003741888] |
Chr19:11105505..11105506 [GRCh38]
Chr19:11216181..11216182 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.984C>G (p.Val328=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742492] |
Chr19:11110695 [GRCh38]
Chr19:11221371 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1845+18G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003849558] |
Chr19:11117016 [GRCh38]
Chr19:11227692 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2010C>T (p.Thr670=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742509] |
Chr19:11120392 [GRCh38]
Chr19:11231068 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2140+16T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742445] |
Chr19:11120538 [GRCh38]
Chr19:11231214 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2014C>T (p.Leu672=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581976] |
Chr19:11120396 [GRCh38]
Chr19:11231072 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.387C>G (p.Asp129Glu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581994] |
Chr19:11105293 [GRCh38]
Chr19:11215969 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1109A>T (p.Asn370Ile) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582615] |
Chr19:11111562 [GRCh38]
Chr19:11222238 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.787G>T (p.Asp263Tyr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582616] |
Chr19:11106657 [GRCh38]
Chr19:11217333 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.694+9G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741973] |
Chr19:11105609 [GRCh38]
Chr19:11216285 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1864G>C (p.Asp622His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741993] |
Chr19:11120110 [GRCh38]
Chr19:11230786 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.558T>C (p.Gly186=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741994] |
Chr19:11105464 [GRCh38]
Chr19:11216140 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1987+14A>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742547] |
Chr19:11120247 [GRCh38]
Chr19:11230923 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1060+7C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582033] |
Chr19:11110778 [GRCh38]
Chr19:11221454 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.941-20C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582653] |
Chr19:11110632 [GRCh38]
Chr19:11221308 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.562T>G (p.Tyr188Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740666] |
Chr19:11105468 [GRCh38]
Chr19:11216144 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.695-18C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741425] |
Chr19:11106547 [GRCh38]
Chr19:11217223 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.818-20C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742023] |
Chr19:11107372 [GRCh38]
Chr19:11218048 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.955T>C (p.Leu319=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581308] |
Chr19:11110666 [GRCh38]
Chr19:11221342 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.-48A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582089] |
Chr19:11089501 [GRCh38]
Chr19:11200177 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.279G>A (p.Val93=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582094] |
Chr19:11102752 [GRCh38]
Chr19:11213428 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.380T>C (p.Val127Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582097] |
Chr19:11105286 [GRCh38]
Chr19:11215962 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.693C>T (p.Cys231=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582100]|Hypercholesterolemia, familial, 1 [RCV004011480] |
Chr19:11105599 [GRCh38]
Chr19:11216275 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.928A>T (p.Ile310Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582105]|Hypercholesterolemia, familial, 1 [RCV004011482] |
Chr19:11107502 [GRCh38]
Chr19:11218178 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1186+6C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582108]|Hypercholesterolemia, familial, 1 [RCV004011483] |
Chr19:11111645 [GRCh38]
Chr19:11222321 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1359-14del |
deletion |
Familial hypercholesterolemia [RCV003582114] |
Chr19:11113521 [GRCh38]
Chr19:11224197 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1706-14A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582118] |
Chr19:11116845 [GRCh38]
Chr19:11227521 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1809G>A (p.Lys603=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582120] |
Chr19:11116962 [GRCh38]
Chr19:11227638 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2190G>T (p.Lys730Asn) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582124]|Hypercholesterolemia, familial, 1 [RCV004011489] |
Chr19:11123223 [GRCh38]
Chr19:11233899 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.903C>T (p.Asp301=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582737] |
Chr19:11107477 [GRCh38]
Chr19:11218153 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1215C>A (p.Asn405Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742073] |
Chr19:11113306 [GRCh38]
Chr19:11223982 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1123T>G (p.Tyr375Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582186] |
Chr19:11111576 [GRCh38]
Chr19:11222252 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2141-17T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582201] |
Chr19:11123157 [GRCh38]
Chr19:11233833 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1272C>T (p.Pro424=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741514] |
Chr19:11113363 [GRCh38]
Chr19:11224039 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.694+13C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742108] |
Chr19:11105613 [GRCh38]
Chr19:11216289 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1518_1586+340del |
deletion |
Familial hypercholesterolemia [RCV003742137] |
Chr19:11113691..11114099 [GRCh38]
Chr19:11224367..11224775 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.67+18C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581980] |
Chr19:11089633 [GRCh38]
Chr19:11200309 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.394C>A (p.Arg132=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582825] |
Chr19:11105300 [GRCh38]
Chr19:11215976 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1344G>A (p.Gln448=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742173] |
Chr19:11113435 [GRCh38]
Chr19:11224111 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2076C>G (p.Pro692=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003856690] |
Chr19:11120458 [GRCh38]
Chr19:11231134 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1061-19C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740893] |
Chr19:11111495 [GRCh38]
Chr19:11222171 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2410C>T (p.Leu804=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742216] |
Chr19:11129533 [GRCh38]
Chr19:11240209 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.438C>T (p.Leu146=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742223] |
Chr19:11105344 [GRCh38]
Chr19:11216020 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.940+17G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742229] |
Chr19:11107531 [GRCh38]
Chr19:11218207 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1186+16C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581414] |
Chr19:11111655 [GRCh38]
Chr19:11222331 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.314-2A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581465] |
Chr19:11105218 [GRCh38]
Chr19:11215894 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2580G>T (p.Ala860=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582880] |
Chr19:11131313 [GRCh38]
Chr19:11241989 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2389+24_2389+33del |
deletion |
Familial hypercholesterolemia [RCV003740930] |
Chr19:11128100..11128109 [GRCh38]
Chr19:11238776..11238785 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1061-11C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740944] |
Chr19:11111503 [GRCh38]
Chr19:11222179 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2141-18G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740946] |
Chr19:11123156 [GRCh38]
Chr19:11233832 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2250C>T (p.Ser750=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741638] |
Chr19:11123283 [GRCh38]
Chr19:11233959 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1359-30C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582111] |
Chr19:11113505 [GRCh38]
Chr19:11224181 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2384_2389+2del |
deletion |
Familial hypercholesterolemia [RCV003582900] |
Chr19:11128080..11128087 [GRCh38]
Chr19:11238756..11238763 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.68-12C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003836394] |
Chr19:11100211 [GRCh38]
Chr19:11210887 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.711C>A (p.Arg237=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741833] |
Chr19:11106581 [GRCh38]
Chr19:11217257 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1524G>A (p.Arg508=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741886] |
Chr19:11113700 [GRCh38]
Chr19:11224376 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2408G>C (p.Cys803Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741922] |
Chr19:11129531 [GRCh38]
Chr19:11240207 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1338G>C (p.Leu446=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581960] |
Chr19:11113429 [GRCh38]
Chr19:11224105 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1418_1432del (p.Ile473_Gly478delinsArg) |
deletion |
Familial hypercholesterolemia [RCV003581999] |
Chr19:11113594..11113608 [GRCh38]
Chr19:11224270..11224284 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.86del (p.Arg29fs) |
deletion |
Familial hypercholesterolemia [RCV003582091] |
Chr19:11100241 [GRCh38]
Chr19:11210917 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.191-13G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582093] |
Chr19:11102651 [GRCh38]
Chr19:11213327 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.449C>A (p.Pro150His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582099] |
Chr19:11105355 [GRCh38]
Chr19:11216031 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.893T>C (p.Met298Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582104] |
Chr19:11107467 [GRCh38]
Chr19:11218143 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1936C>T (p.Leu646=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582122]|Hypercholesterolemia, familial, 1 [RCV004011487] |
Chr19:11120182 [GRCh38]
Chr19:11230858 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1060+15G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740719] |
Chr19:11110786 [GRCh38]
Chr19:11221462 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2234C>T (p.Pro745Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582182] |
Chr19:11123267 [GRCh38]
Chr19:11233943 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.685G>T (p.Glu229Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582012] |
Chr19:11105591 [GRCh38]
Chr19:11216267 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1846-20C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740815] |
Chr19:11120072 [GRCh38]
Chr19:11230748 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1402_1407del (p.Val468_Ile469del) |
deletion |
Familial hypercholesterolemia [RCV003582255] |
Chr19:11113577..11113582 [GRCh38]
Chr19:11224253..11224258 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1377C>T (p.Ala459=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740994] |
Chr19:11113553 [GRCh38]
Chr19:11224229 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1585G>T (p.Gly529Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582416] |
Chr19:11113761 [GRCh38]
Chr19:11224437 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1307T>G (p.Val436Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741060] |
Chr19:11113398 [GRCh38]
Chr19:11224074 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2547+13C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741053] |
Chr19:11129683 [GRCh38]
Chr19:11240359 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.600C>T (p.Phe200=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742442]|Hypercholesterolemia, familial, 1 [RCV004011735] |
Chr19:11105506 [GRCh38]
Chr19:11216182 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1362C>T (p.Thr454=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742463] |
Chr19:11113538 [GRCh38]
Chr19:11224214 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.747C>T (p.Ile249=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582727] |
Chr19:11106617 [GRCh38]
Chr19:11217293 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.817+13C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003835808] |
Chr19:11106700 [GRCh38]
Chr19:11217376 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.902A>T (p.Asp301Val) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003838013] |
Chr19:11107476 [GRCh38]
Chr19:11218152 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.741C>T (p.Asn247=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582843] |
Chr19:11106611 [GRCh38]
Chr19:11217287 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2547+15C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741497] |
Chr19:11129685 [GRCh38]
Chr19:11240361 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1340C>T (p.Ser447Phe) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741530] |
Chr19:11113431 [GRCh38]
Chr19:11224107 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2390-20G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741563] |
Chr19:11129493 [GRCh38]
Chr19:11240169 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1846-19T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581291] |
Chr19:11120073 [GRCh38]
Chr19:11230749 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.288C>T (p.Asp96=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581456] |
Chr19:11102761 [GRCh38]
Chr19:11213437 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2092T>C (p.Cys698Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581466] |
Chr19:11120474 [GRCh38]
Chr19:11231150 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2389+15G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003583062] |
Chr19:11128100 [GRCh38]
Chr19:11238776 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1561G>T (p.Ala521Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582852] |
Chr19:11113737 [GRCh38]
Chr19:11224413 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2430G>C (p.Trp810Cys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742188] |
Chr19:11129553 [GRCh38]
Chr19:11240229 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1705+20G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582316] |
Chr19:11116232 [GRCh38]
Chr19:11226908 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1837_1840del (p.Val613fs) |
deletion |
Familial hypercholesterolemia [RCV003582320] |
Chr19:11116990..11116993 [GRCh38]
Chr19:11227666..11227669 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1358+20dup |
duplication |
Familial hypercholesterolemia [RCV003741592] |
Chr19:11113468..11113469 [GRCh38]
Chr19:11224144..11224145 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1359-6C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740960] |
Chr19:11113529 [GRCh38]
Chr19:11224205 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1200C>T (p.Tyr400=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742326] |
Chr19:11113291 [GRCh38]
Chr19:11223967 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1427C>G (p.Pro476Arg) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740926] |
Chr19:11113603 [GRCh38]
Chr19:11224279 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2547+17A>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741058] |
Chr19:11129687 [GRCh38]
Chr19:11240363 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2557G>C (p.Val853Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741063] |
Chr19:11131290 [GRCh38]
Chr19:11241966 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2490G>A (p.Lys830=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742273] |
Chr19:11129613 [GRCh38]
Chr19:11240289 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1641G>T (p.Leu547=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741804] |
Chr19:11116148 [GRCh38]
Chr19:11226824 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1730_1731delinsAA (p.Trp577Ter) |
indel |
Familial hypercholesterolemia [RCV003741863] |
Chr19:11116883..11116884 [GRCh38]
Chr19:11227559..11227560 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2312-15G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003583126] |
Chr19:11127993 [GRCh38]
Chr19:11238669 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1626C>A (p.Ile542=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742457] |
Chr19:11116133 [GRCh38]
Chr19:11226809 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2141-19C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582524] |
Chr19:11123155 [GRCh38]
Chr19:11233831 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.480_492del (p.Ile161fs) |
deletion |
Familial hypercholesterolemia [RCV003581171] |
Chr19:11105383..11105395 [GRCh38]
Chr19:11216059..11216071 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1284C>A (p.Asn428Lys) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582733] |
Chr19:11113375 [GRCh38]
Chr19:11224051 [GRCh37]
Chr19:19p13.2 |
pathogenic|likely pathogenic |
| NM_000527.5(LDLR):c.2230dup (p.Arg744fs) |
duplication |
Familial hypercholesterolemia [RCV003582077] |
Chr19:11123260..11123261 [GRCh38]
Chr19:11233936..11233937 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.68-13T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582090] |
Chr19:11100210 [GRCh38]
Chr19:11210886 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1270C>A (p.Pro424Thr) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582110] |
Chr19:11113361 [GRCh38]
Chr19:11224037 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1359-26_1359-23del |
deletion |
Familial hypercholesterolemia [RCV003582113]|Hypercholesterolemia, familial, 1 [RCV004011486] |
Chr19:11113509..11113512 [GRCh38]
Chr19:11224185..11224188 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1369G>C (p.Asp457His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582115] |
Chr19:11113545 [GRCh38]
Chr19:11224221 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1492G>C (p.Val498Leu) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582116] |
Chr19:11113668 [GRCh38]
Chr19:11224344 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.825C>G (p.Leu275=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741464] |
Chr19:11107399 [GRCh38]
Chr19:11218075 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1821C>T (p.His607=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582738] |
Chr19:11116974 [GRCh38]
Chr19:11227650 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1953_1965del (p.Met652fs) |
deletion |
Familial hypercholesterolemia [RCV003582747] |
Chr19:11120199..11120211 [GRCh38]
Chr19:11230875..11230887 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1656del (p.Tyr553fs) |
deletion |
Familial hypercholesterolemia [RCV003742079] |
Chr19:11116163 [GRCh38]
Chr19:11226839 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.2376T>A (p.Ile792=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742139] |
Chr19:11128072 [GRCh38]
Chr19:11238748 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2390-14G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582249] |
Chr19:11129499 [GRCh38]
Chr19:11240175 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1186+19C>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581454] |
Chr19:11111658 [GRCh38]
Chr19:11222334 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1708CTC[1] (p.Leu571del) |
microsatellite |
Familial hypercholesterolemia [RCV003832914] |
Chr19:11116861..11116863 [GRCh38]
Chr19:11227537..11227539 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.156C>A (p.Cys52Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582236] |
Chr19:11100311 [GRCh38]
Chr19:11210987 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.513C>A (p.Pro171=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582424] |
Chr19:11105419 [GRCh38]
Chr19:11216095 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.885C>T (p.Val295=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741749] |
Chr19:11107459 [GRCh38]
Chr19:11218135 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+19G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003741068] |
Chr19:11113781 [GRCh38]
Chr19:11224457 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1246C>A (p.Arg416=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581132] |
Chr19:11113337 [GRCh38]
Chr19:11224013 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.264G>A (p.Arg88=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742407]|Hypercholesterolemia, familial, 1 [RCV004011733] |
Chr19:11102737 [GRCh38]
Chr19:11213413 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1186+17G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582597] |
Chr19:11111656 [GRCh38]
Chr19:11222332 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1357A>G (p.Ser453Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003837491] |
Chr19:11113448 [GRCh38]
Chr19:11224124 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.856A>G (p.Ser286Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742516] |
Chr19:11107430 [GRCh38]
Chr19:11218106 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.451G>T (p.Ala151Ser) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582709] |
Chr19:11105357 [GRCh38]
Chr19:11216033 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2389+19C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740721] |
Chr19:11128104 [GRCh38]
Chr19:11238780 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1359-29G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582112]|Hypercholesterolemia, familial, 1 [RCV004011485] |
Chr19:11113506 [GRCh38]
Chr19:11224182 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1603G>C (p.Asp535His) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582117] |
Chr19:11116110 [GRCh38]
Chr19:11226786 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1706-12T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582119] |
Chr19:11116847 [GRCh38]
Chr19:11227523 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1845+6G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582121] |
Chr19:11117004 [GRCh38]
Chr19:11227680 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2207T>G (p.Val736Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582125] |
Chr19:11123240 [GRCh38]
Chr19:11233916 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1705+19C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581374] |
Chr19:11116231 [GRCh38]
Chr19:11226907 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1845+16G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003581378] |
Chr19:11117014 [GRCh38]
Chr19:11227690 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1292C>G (p.Ala431Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582813] |
Chr19:11113383 [GRCh38]
Chr19:11224059 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2517C>T (p.Cys839=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582814] |
Chr19:11129640 [GRCh38]
Chr19:11240316 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1705+13G>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003740782] |
Chr19:11116225 [GRCh38]
Chr19:11226901 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2094C>A (p.Cys698Ter) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003742140] |
Chr19:11120476 [GRCh38]
Chr19:11231152 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.191-20C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003582219] |
Chr19:11102644 [GRCh38]
Chr19:11213320 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.657C>G (p.Gly219=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003847882] |
Chr19:11105563 [GRCh38]
Chr19:11216239 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.509A>G (p.Asp170Gly) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003842479] |
Chr19:11105415 [GRCh38]
Chr19:11216091 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1659C>T (p.Tyr553=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003860799] |
Chr19:11116166 [GRCh38]
Chr19:11226842 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2140+11C>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV003844918] |
Chr19:11120533 [GRCh38]
Chr19:11231209 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.817+19G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003871284] |
Chr19:11106706 [GRCh38]
Chr19:11217382 [GRCh37]
Chr19:19p13.2 |
likely benign |
| GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 |
copy number loss |
not specified [RCV003986120] |
Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1187-18C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003818848] |
Chr19:11113260 [GRCh38]
Chr19:11223936 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.694+24dup |
duplication |
Familial hypercholesterolemia [RCV003859265] |
Chr19:11105619..11105620 [GRCh38]
Chr19:11216295..11216296 [GRCh37]
Chr19:19p13.2 |
benign |
| NM_000527.5(LDLR):c.817+18G>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003860786] |
Chr19:11106705 [GRCh38]
Chr19:11217381 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1586+17C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003871080] |
Chr19:11113779 [GRCh38]
Chr19:11224455 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1143A>G (p.Glu381=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003847307] |
Chr19:11111596 [GRCh38]
Chr19:11222272 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1011G>C (p.Glu337Asp) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003870333] |
Chr19:11110722 [GRCh38]
Chr19:11221398 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.552T>C (p.Cys184=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003865314] |
Chr19:11105458 [GRCh38]
Chr19:11216134 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.190+16G>A |
single nucleotide variant |
Familial hypercholesterolemia [RCV003824103] |
Chr19:11100361 [GRCh38]
Chr19:11211037 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.68-13T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003843054] |
Chr19:11100210 [GRCh38]
Chr19:11210886 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.477C>T (p.Thr159=) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003863181] |
Chr19:11105383 [GRCh38]
Chr19:11216059 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1471A>G (p.Thr491Ala) |
single nucleotide variant |
Familial hypercholesterolemia [RCV003863114] |
Chr19:11113647 [GRCh38]
Chr19:11224323 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.695-17T>C |
single nucleotide variant |
Familial hypercholesterolemia [RCV003820377] |
Chr19:11106548 [GRCh38]
Chr19:11217224 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1060+18C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV003861505] |
Chr19:11110789 [GRCh38]
Chr19:11221465 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.971G>T (p.Gly324Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV003994664] |
Chr19:11110682 [GRCh38]
Chr19:11221358 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1800G>T (p.Glu600Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004008163] |
Chr19:11116953 [GRCh38]
Chr19:11227629 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.77G>A (p.Arg26Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004008182] |
Chr19:11100232 [GRCh38]
Chr19:11210908 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1283A>C (p.Asn428Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004010016] |
Chr19:11113374 [GRCh38]
Chr19:11224050 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1322T>G (p.Ile441Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518663] |
Chr19:11113413 [GRCh38]
Chr19:11224089 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1661C>G (p.Ser554Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518668] |
Chr19:11116168 [GRCh38]
Chr19:11226844 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1704A>G (p.Leu568=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518669] |
Chr19:11116211 [GRCh38]
Chr19:11226887 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1782C>T (p.Asn594=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518671] |
Chr19:11116935 [GRCh38]
Chr19:11227611 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2187A>G (p.Leu729=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518673] |
Chr19:11123220 [GRCh38]
Chr19:11233896 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.479G>C (p.Cys160Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518676] |
Chr19:11105385 [GRCh38]
Chr19:11216061 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.631del (p.His211fs) |
deletion |
Cardiovascular phenotype [RCV004518678] |
Chr19:11105536 [GRCh38]
Chr19:11216212 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.*2196TA[9] |
microsatellite |
LDLR-related condition [RCV003894226] |
Chr19:11133511..11133512 [GRCh38]
Chr19:11244187..11244188 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2230_2232delinsTGG (p.Arg744Trp) |
indel |
Hypercholesterolemia, familial, 1 [RCV004007789] |
Chr19:11123263..11123265 [GRCh38]
Chr19:11233939..11233941 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1299_1304del (p.Asp433_Thr434del) |
deletion |
Cardiovascular phenotype [RCV004518662] |
Chr19:11113387..11113392 [GRCh38]
Chr19:11224063..11224068 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.726G>A (p.Gln242=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518681] |
Chr19:11106596 [GRCh38]
Chr19:11217272 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1587-1G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV004518666] |
Chr19:11116093 [GRCh38]
Chr19:11226769 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1359-28C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004008060] |
Chr19:11113507 [GRCh38]
Chr19:11224183 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2078A>G (p.Lys693Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004008107] |
Chr19:11120460 [GRCh38]
Chr19:11231136 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.130T>C (p.Trp44Arg) |
single nucleotide variant |
not specified [RCV003988530] |
Chr19:11100285 [GRCh38]
Chr19:11210961 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2233C>T (p.Pro745Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004007972] |
Chr19:11123266 [GRCh38]
Chr19:11233942 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.-46C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004010087] |
Chr19:11089503 [GRCh38]
Chr19:11200179 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4:c.2462_2463insALU |
insertion |
Cardiovascular phenotype [RCV004518674] |
|
likely pathogenic |
| NM_000527.5(LDLR):c.2523C>G (p.Asn841Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004007790] |
Chr19:11129646 [GRCh38]
Chr19:11240322 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.423C>T (p.Ala141=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518675] |
Chr19:11105329 [GRCh38]
Chr19:11216005 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1122C>G (p.Gly374=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012824] |
Chr19:11111575 [GRCh38]
Chr19:11222251 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.653G>C (p.Gly218Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004008041] |
Chr19:11105559 [GRCh38]
Chr19:11216235 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1166C>G (p.Thr389Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012847] |
Chr19:11111619 [GRCh38]
Chr19:11222295 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.695-5del |
deletion |
Hypercholesterolemia, familial, 1 [RCV004011991] |
Chr19:11106557 [GRCh38]
Chr19:11217233 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-94G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012070] |
Chr19:11089455 [GRCh38]
Chr19:11200131 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1359-27_1359-3dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV004012072] |
Chr19:11113506..11113507 [GRCh38]
Chr19:11224182..11224183 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1966C>T (p.His656Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004011909] |
Chr19:11120212 [GRCh38]
Chr19:11230888 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1275C>T (p.Asn425=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012163] |
Chr19:11113366 [GRCh38]
Chr19:11224042 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.512C>T (p.Pro171Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012184] |
Chr19:11105418 [GRCh38]
Chr19:11216094 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.303G>T (p.Glu101Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012480] |
Chr19:11102776 [GRCh38]
Chr19:11213452 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.413C>T (p.Ser138Leu) |
single nucleotide variant |
LDLR-related condition [RCV003901451] |
Chr19:11105319 [GRCh38]
Chr19:11215995 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.432G>T (p.Pro144=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012162] |
Chr19:11105338 [GRCh38]
Chr19:11216014 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.585C>G (p.Ser195Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012491] |
Chr19:11105491 [GRCh38]
Chr19:11216167 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2076C>T (p.Pro692=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518672] |
Chr19:11120458 [GRCh38]
Chr19:11231134 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2294T>C (p.Val765Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004011769] |
Chr19:11123327 [GRCh38]
Chr19:11234003 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-123C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004011832] |
Chr19:11089426 [GRCh38]
Chr19:11200102 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1134G>C (p.Gln378His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004011833] |
Chr19:11111587 [GRCh38]
Chr19:11222263 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1905A>G (p.Thr635=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004011878] |
Chr19:11120151 [GRCh38]
Chr19:11230827 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1196C>T (p.Ala399Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012623] |
Chr19:11113287 [GRCh38]
Chr19:11223963 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.381C>T (p.Val127=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004010019] |
Chr19:11105287 [GRCh38]
Chr19:11215963 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1315A>G (p.Asn439Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012529] |
Chr19:11113406 [GRCh38]
Chr19:11224082 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.833G>A (p.Gly278Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012276] |
Chr19:11107407 [GRCh38]
Chr19:11218083 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2242G>C (p.Asp748His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012548] |
Chr19:11123275 [GRCh38]
Chr19:11233951 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2494A>G (p.Thr832Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012677] |
Chr19:11129617 [GRCh38]
Chr19:11240293 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1160C>A (p.Pro387His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004010228] |
Chr19:11111613 [GRCh38]
Chr19:11222289 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2511C>T (p.His837=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012714] |
Chr19:11129634 [GRCh38]
Chr19:11240310 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.818T>G (p.Val273Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004007788] |
Chr19:11107392 [GRCh38]
Chr19:11218068 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.635C>G (p.Ser212Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013189] |
Chr19:11105541 [GRCh38]
Chr19:11216217 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1984A>T (p.Arg662Ter) |
single nucleotide variant |
Homozygous familial hypercholesterolemia [RCV004018068] |
Chr19:11120230 [GRCh38]
Chr19:11230906 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2259_2277del (p.Gly754fs) |
deletion |
Homozygous familial hypercholesterolemia [RCV004018069] |
Chr19:11123291..11123309 [GRCh38]
Chr19:11233967..11233985 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.1801G>A (p.Asp601Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014783] |
Chr19:11116954 [GRCh38]
Chr19:11227630 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1831T>C (p.Leu611=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014553] |
Chr19:11116984 [GRCh38]
Chr19:11227660 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.4(LDLR):c.-128A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016070] |
Chr19:11089421 [GRCh38]
Chr19:11200097 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NR_163945.1(LDLR-AS1):n.331T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016096] |
Chr19:11089329 [GRCh38]
Chr19:11200005 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1637del (p.Gly546fs) |
deletion |
Homozygous familial hypercholesterolemia [RCV004018096] |
Chr19:11116140 [GRCh38]
Chr19:11226816 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.-36T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013168] |
Chr19:11089513 [GRCh38]
Chr19:11200189 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2140+85C>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013170] |
Chr19:11120607 [GRCh38]
Chr19:11231283 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.817+1G>C |
single nucleotide variant |
Homozygous familial hypercholesterolemia [RCV004018067] |
Chr19:11106688 [GRCh38]
Chr19:11217364 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2465A>G (p.Asn822Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014683] |
Chr19:11129588 [GRCh38]
Chr19:11240264 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.308G>T (p.Gly103Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016119] |
Chr19:11102781 [GRCh38]
Chr19:11213457 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2063A>G (p.Asn688Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014005] |
Chr19:11120445 [GRCh38]
Chr19:11231121 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2341G>A (p.Glu781Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015575] |
Chr19:11128037 [GRCh38]
Chr19:11238713 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1024G>C (p.Asp342His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016459] |
Chr19:11110735 [GRCh38]
Chr19:11221411 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1590C>A (p.Phe530Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016524] |
Chr19:11116097 [GRCh38]
Chr19:11226773 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1483C>G (p.Leu495Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014895] |
Chr19:11113659 [GRCh38]
Chr19:11224335 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11111514)_(11111639_?)del |
deletion |
Homozygous familial hypercholesterolemia [RCV004018373] |
Chr19:11111514..11111639 [GRCh38]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2322del (p.Asp774fs) |
deletion |
Hypercholesterolemia, familial, 1 [RCV004018142] |
Chr19:11128018 [GRCh38]
Chr19:11238694 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.336C>A (p.Asp112Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014094] |
Chr19:11105242 [GRCh38]
Chr19:11215918 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2542C>T (p.Pro848Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014120] |
Chr19:11129665 [GRCh38]
Chr19:11240341 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1716T>G (p.Ser572Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015001] |
Chr19:11116869 [GRCh38]
Chr19:11227545 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1023C>G (p.Pro341=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015036] |
Chr19:11110734 [GRCh38]
Chr19:11221410 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NR_163945.1(LDLR-AS1):n.314G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015668] |
Chr19:11089346 [GRCh38]
Chr19:11200022 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.64_65insTCG (p.Thr21_Ala22insVal) |
insertion |
Hypercholesterolemia, familial, 1 [RCV004015080] |
Chr19:11089611..11089612 [GRCh38]
Chr19:11200287..11200288 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1181C>T (p.Ala394Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013658] |
Chr19:11111634 [GRCh38]
Chr19:11222310 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11128008)_(11128085_?)del |
deletion |
Homozygous familial hypercholesterolemia [RCV004018372] |
Chr19:11128008..11128085 [GRCh38]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.254A>G (p.Gln85Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013751] |
Chr19:11102727 [GRCh38]
Chr19:11213403 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.161A>T (p.Asp54Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016814] |
Chr19:11100316 [GRCh38]
Chr19:11210992 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2456A>G (p.Asn819Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016695] |
Chr19:11129579 [GRCh38]
Chr19:11240255 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-117A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013900] |
Chr19:11089432 [GRCh38]
Chr19:11200108 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-119A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014042] |
Chr19:11089430 [GRCh38]
Chr19:11200106 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2548-12A>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015546] |
Chr19:11131269 [GRCh38]
Chr19:11241945 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1988_2140+1064del |
deletion |
Homozygous familial hypercholesterolemia [RCV004018388] |
Chr19:11120367..11121583 [GRCh38]
Chr19:11231043..11232259 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.2191G>A (p.Val731Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014380] |
Chr19:11123224 [GRCh38]
Chr19:11233900 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NR_163945.1(LDLR-AS1):n.304G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013610] |
Chr19:11089356 [GRCh38]
Chr19:11200032 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.-4G>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013620] |
Chr19:11089545 [GRCh38]
Chr19:11200221 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1359-10_1359-8del |
microsatellite |
Hypercholesterolemia, familial, 1 [RCV004016036] |
Chr19:11113520..11113522 [GRCh38]
Chr19:11224196..11224198 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.836C>G (p.Pro279Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013652] |
Chr19:11107410 [GRCh38]
Chr19:11218086 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.-63T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014510] |
Chr19:11089486 [GRCh38]
Chr19:11200162 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2446A>G (p.Lys816Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014125] |
Chr19:11129569 [GRCh38]
Chr19:11240245 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2363G>A (p.Arg788Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015770] |
Chr19:11128059 [GRCh38]
Chr19:11238735 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.912C>T (p.Asp304=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012855] |
Chr19:11107486 [GRCh38]
Chr19:11218162 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.940+2dup |
duplication |
Hypercholesterolemia, familial, 1 [RCV004016201] |
Chr19:11107515..11107516 [GRCh38]
Chr19:11218191..11218192 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.271G>A (p.Gly91Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015830] |
Chr19:11102744 [GRCh38]
Chr19:11213420 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.-18C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014655] |
Chr19:11089531 [GRCh38]
Chr19:11200207 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.978C>T (p.Ser326=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016232] |
Chr19:11110689 [GRCh38]
Chr19:11221365 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.-25A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014398] |
Chr19:11089524 [GRCh38]
Chr19:11200200 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2200A>G (p.Thr734Ala) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014491] |
Chr19:11123233 [GRCh38]
Chr19:11233909 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.421G>A (p.Ala141Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015953] |
Chr19:11105327 [GRCh38]
Chr19:11216003 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NR_163945.1(LDLR-AS1):n.326T>A |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016314] |
Chr19:11089334 [GRCh38]
Chr19:11200010 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.685G>A (p.Glu229Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014688] |
Chr19:11105591 [GRCh38]
Chr19:11216267 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2389+6C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016445] |
Chr19:11128091 [GRCh38]
Chr19:11238767 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1093A>G (p.Ser365Gly) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016507] |
Chr19:11111546 [GRCh38]
Chr19:11222222 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2406T>A (p.Leu802=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016671] |
Chr19:11129529 [GRCh38]
Chr19:11240205 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1359-30C>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013476] |
Chr19:11113505 [GRCh38]
Chr19:11224181 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1359-31G>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013477] |
Chr19:11113504 [GRCh38]
Chr19:11224180 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2433G>C (p.Lys811Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015119] |
Chr19:11129556 [GRCh38]
Chr19:11240232 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2525A>G (p.Gln842Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013629] |
Chr19:11129648 [GRCh38]
Chr19:11240324 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2416G>C (p.Val806Leu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013647] |
Chr19:11129539 [GRCh38]
Chr19:11240215 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-103A>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013969] |
Chr19:11089446 [GRCh38]
Chr19:11200122 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1849A>G (p.Lys617Glu) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014039] |
Chr19:11120095 [GRCh38]
Chr19:11230771 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.7C>A (p.Pro3Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015882] |
Chr19:11089555 [GRCh38]
Chr19:11200231 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.593C>G (p.Ser198Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012905] |
Chr19:11105499 [GRCh38]
Chr19:11216175 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1778G>A (p.Gly593Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004012980] |
Chr19:11116931 [GRCh38]
Chr19:11227607 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.375G>C (p.Gln125His) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014614] |
Chr19:11105281 [GRCh38]
Chr19:11215957 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1029C>G (p.Gly343=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014648] |
Chr19:11110740 [GRCh38]
Chr19:11221416 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.18G>A (p.Trp6Ter) |
single nucleotide variant |
Homozygous familial hypercholesterolemia [RCV004018066] |
Chr19:11089566 [GRCh38]
Chr19:11200242 [GRCh37]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.712C>T (p.Pro238Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015014] |
Chr19:11106582 [GRCh38]
Chr19:11217258 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2007G>T (p.Arg669Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016658] |
Chr19:11120389 [GRCh38]
Chr19:11231065 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.940G>T (p.Gly314Trp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015115] |
Chr19:11107514 [GRCh38]
Chr19:11218190 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11110652)_(11111639_?)del |
deletion |
Homozygous familial hypercholesterolemia [RCV004018366] |
Chr19:11110652..11111639 [GRCh38]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.831G>C (p.Glu277Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013611] |
Chr19:11107405 [GRCh38]
Chr19:11218081 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1114G>C (p.Glu372Gln) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004017000] |
Chr19:11111567 [GRCh38]
Chr19:11222243 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NR_163945.1(LDLR-AS1):n.309del |
deletion |
Hypercholesterolemia, familial, 1 [RCV004015518] |
Chr19:11089351 [GRCh38]
Chr19:11200027 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1251_1254del (p.Glu418fs) |
deletion |
Cardiovascular phenotype [RCV004412640] |
Chr19:11113339..11113342 [GRCh38]
Chr19:11224015..11224018 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.1764_1775delinsGTCAATGGGGGCAACC (p.Ile588fs) |
indel |
Cardiovascular phenotype [RCV004412641] |
Chr19:11116917..11116928 [GRCh38]
Chr19:11227593..11227604 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000527.5(LDLR):c.214G>A (p.Asp72Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV004412642] |
Chr19:11102687 [GRCh38]
Chr19:11213363 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.481_482insGACAGC (p.Ile161delinsArgGlnLeu) |
insertion |
Cardiovascular phenotype [RCV004412644] |
Chr19:11105387..11105388 [GRCh38]
Chr19:11216063..11216064 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.485C>A (p.Pro162His) |
single nucleotide variant |
Cardiovascular phenotype [RCV004412645] |
Chr19:11105391 [GRCh38]
Chr19:11216067 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.941-5C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV004412646] |
Chr19:11110647 [GRCh38]
Chr19:11221323 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1478C>G (p.Ser493Cys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016112] |
Chr19:11113654 [GRCh38]
Chr19:11224330 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.49G>A (p.Ala17Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013115] |
Chr19:11089597 [GRCh38]
Chr19:11200273 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2259_2264del (p.Gly754_Ala755del) |
deletion |
Hypercholesterolemia, familial, 1 [RCV004013125] |
Chr19:11123291..11123296 [GRCh38]
Chr19:11233967..11233972 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2442G>A (p.Arg814=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004014737] |
Chr19:11129565 [GRCh38]
Chr19:11240241 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.2158G>A (p.Ala720Thr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013187] |
Chr19:11123191 [GRCh38]
Chr19:11233867 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2299A>G (p.Met767Val) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016341] |
Chr19:11123332 [GRCh38]
Chr19:11234008 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-185C>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013356] |
Chr19:11089364 [GRCh38]
Chr19:11200040 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2390-9T>C |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016680] |
Chr19:11129504 [GRCh38]
Chr19:11240180 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.741C>G (p.Asn247Lys) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016754] |
Chr19:11106611 [GRCh38]
Chr19:11217287 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NC_000019.10:g.(?_11110652)_(11110771_?)dup |
duplication |
Homozygous familial hypercholesterolemia [RCV004018380] |
Chr19:11110652..11110771 [GRCh38]
Chr19:19p13.2 |
likely pathogenic |
| NM_000527.5(LDLR):c.577G>T (p.Asp193Tyr) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015236] |
Chr19:11105483 [GRCh38]
Chr19:11216159 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1469G>C (p.Trp490Ser) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013635] |
Chr19:11113645 [GRCh38]
Chr19:11224321 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1548C>T (p.Gly516=) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004017006] |
Chr19:11113724 [GRCh38]
Chr19:11224400 [GRCh37]
Chr19:19p13.2 |
likely benign |
| NM_000527.5(LDLR):c.1144G>C (p.Gly382Arg) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004013754] |
Chr19:11111597 [GRCh38]
Chr19:11222273 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.2129G>A (p.Ser710Asn) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015543] |
Chr19:11120511 [GRCh38]
Chr19:11231187 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.4(LDLR):c.-177G>T |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015616] |
Chr19:11089372 [GRCh38]
Chr19:11200048 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1011G>T (p.Glu337Asp) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004015746] |
Chr19:11110722 [GRCh38]
Chr19:11221398 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
| NM_000527.5(LDLR):c.1768G>A (p.Val590Ile) |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV004016015] |
Chr19:11116921 [GRCh38]
Chr19:11227597 [GRCh37]
Chr19:19p13.2 |
uncertain significance |
