NC_000019.10:g.(?_11110632)_(11117018_?)del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000543243] |
Chr19:11110632..11117018 [GRCh38] Chr19:19p13.2 |
pathogenic |
FH Osaka 2 |
deletion |
Hypercholesterolemia, familial, 1 [RCV000003914] |
Chr19:11110330..11121805 [GRCh38] Chr19:11221006..11232481 [GRCh37] Chr19:19p13.2 |
pathogenic|other |
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 |
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 |
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.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.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.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.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.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.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.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.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.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.1186+700_2141-545del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237394] |
Chr19:11112339..11122629 [GRCh38] Chr19:11223015..11233305 [GRCh37] Chr19:19p13.2 |
pathogenic |
c.941-2966_*2583+4485del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237449] |
Chr19:11107686..11138384 [GRCh38] Chr19:11218362..11249060 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_000527.4(LDLR):c.190+984_1846-1160del |
deletion |
Hypercholesterolemia, familial, 1 [RCV000237471] |
Chr19:11101329..11118932 [GRCh38] Chr19:11212005..11229608 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_000527.4(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.1197_2205del (p.Ala399_Tyr400insTer) |
deletion |
Hypercholesterolemia, familial, 1 [RCV000238376] |
Chr19:11113287..11123237 [GRCh38] Chr19:11223963..11233913 [GRCh37] Chr19:19p13.2 |
pathogenic |
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.1358+32C>T |
single nucleotide variant |
Familial hypercholesterolemia [RCV001080540]|Hypercholesterolemia, familial, 1 [RCV000467166] |
Chr19:11113481 [GRCh38] Chr19:11224157 [GRCh37] Chr19:19p13.2 |
benign |
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_000527.5(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_000527.5(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.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.1359-25A>G |
single nucleotide variant |
Hypercholesterolemia, familial, 1 [RCV000495872] |
Chr19:11113510 [GRCh38] Chr19:11224186 [GRCh37] Chr19:19p13.2 |
pathogenic |
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 |
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 |
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.(?_11100213)_(11117013_?)del |
deletion |
Familial hypercholesterolemia [RCV000820590] |
Chr19:11100213..11117013 [GRCh38] Chr19:11210889..11227689 [GRCh37] Chr19:19p13.2 |
pathogenic |
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 |
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.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.1359-14T>G |
single nucleotide variant |
Familial hypercholesterolemia [RCV001188732] |
Chr19:11113521 [GRCh38] Chr19:11224197 [GRCh37] Chr19:19p13.2 |
likely benign |
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.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.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.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.1359-14del |
deletion |
Familial hypercholesterolemia [RCV003582114] |
Chr19:11113521 [GRCh38] Chr19:11224197 [GRCh37] Chr19:19p13.2 |
uncertain significance |
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.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.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.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.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.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.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.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 |