Visual <p>Database genetische FH-varianten</p>

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Database of Genetic FH Variants

Search by gene, c-position, p-position, NM number, or reference genome, or view the complete table by year. The archive through 2016 is in the second tab.

Data 2020

Starting in 2018 142 Archive through 2016 979

Year	Gene	Ref. Genome	Chrom	c-position	p-position	NM	Number	Pathogenicity
2020	APOB	GRCH37	2	c.9175C>T	p.Arg3059Cys	NM_000384	3x (HET: 3, HOM: 0)	5 pathogenic
2020	APOB	GRCH37	2	c.10580G>A	p.Arg3527Gln	NM_000384	34x (HET: 34, HOM: 0)	5 pathogenic
2020	APOB	GRCH37	2	c.10579C>T	p.Arg3527Trp	NM_000384	3x (HET: 3, HOM: 0)	5 pathogenic
2020	APOB	GRCH37	2	c.10672C>T	p.Arg3558Cys	NM_000384	3x (HET: 3, HOM: 0)	5 pathogenic
2020	APOB	GRCH37	2	c.13320del	p.Glu4441Serfs*36	NM_000384	2x (HET: 2, HOM: 0)	4 likely pathogenic
2020	APOB	GRCH37	2	c.10708C>T	p.His3570Tyr	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	APOB	GRCH37	2	c.10346A>C	p.Lys3449Thr	NM_000384	2x (HET: 2, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.313+1G>A	p.?	NM_000527	12x (HET: 12, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1359-1G>A	p.?	NM_000527	9x (HET: 9, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(1186+1_1187-1)_(1845+1_1846-1)dup	p.?	NM_000527	4x (HET: 3, HOM: 1)	5 pathogenic
2020	LDLR	GRCH37	19	c.(940+1_941-1)_(1186+1_1187-1)del	p.?	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(2311+1_2312-1)_(*2583_?)del	p.?	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1358+1G>A	p.?	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.191-2A>G	p.?	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(313+1_314-1)_(1186+1_1187-1)del	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2390-2A>C	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.621C>T	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.817+2_817+11del	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(?_-1)_(67+1_68-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(190+1_191-1)_(1186+1_1187-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(313+1_314-1)_(817+1_818-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(313+1_314-1)_(940+1_941-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(940+1_941-1)_(1586+1_1587-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(940+1_941-1)_(2140+1_2141-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.(941+1_942-1)_(1186+1_1187-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.-120C>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1359-5C>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.1836C>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2020	LDLR	GRCH37	19	c.1845+2T>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.190+4A>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2139A>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.313+1G>C	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.314-1G>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.694+2T>C	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.694+3_694+19del	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.694G>A	p.Ala232Thr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.1195G>A	p.Ala399Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1291G>A	p.Ala431Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1618G>A	p.Ala540Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2113G>C	p.Ala705Pro	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.907C>T	p.Arg303Trp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1048C>T	p.Arg350*	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1246C>T	p.Arg416Trp	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1784G>T	p.Arg595Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1783C>T	p.Arg595Trp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1898G>A	p.Arg633His	NM_000527	9x (HET: 9, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1898G>T	p.Arg633Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.25_29del	p.Arg9Aspfs*41	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.889A>C	p.Asn297His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1284C>G	p.Asn428Lys	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1690A>C	p.Asn564His	NM_000527	27x (HET: 27, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1691A>G	p.Asn564Ser	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.352G>T	p.Asp118Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.391G>C	p.Asp131His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.397G>T	p.Asp133Tyr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.661_666dup	p.Asp221_Cys222dup	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.660del	p.Asp221Thrfs*44	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.661G>T	p.Asp221Tyr	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2020	LDLR	GRCH37	19	c.681C>G	p.Asp227Glu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.796G>A	p.Asp266Asn	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.798T>A	p.Asp266Glu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.910G>A	p.Asp304Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1061A>G	p.Asp354Gly	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1066G>T	p.Asp356Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1414G>T	p.Asp472Tyr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.1474G>A	p.Asp492Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.400T>C	p.Cys134Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.429C>A	p.Cys143*	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.518del	p.Cys173Serfs*33	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.763T>C	p.Cys255Arg	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.828C>G	p.Cys276Trp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.888C>A	p.Cys296*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.939C>A	p.Cys313*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1176C>A	p.Cys392*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2043C>A	p.Cys681*	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.761A>C	p.Gln254Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2033_2044del	p.Gln678_Cys681del	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.301G>T	p.Glu101*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.301G>A	p.Glu101Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.418G>A	p.Glu140Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.682G>A	p.Glu228Lys	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.862G>A	p.Glu288Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.949G>A	p.Glu317Lys	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.1069G>A	p.Glu357Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.151G>A	p.Glu51Lys	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2020	LDLR	GRCH37	19	c.1843G>A	p.Glu615Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.654_656del	p.Gly219del	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.805G>C	p.Gly269Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.1004G>T	p.Gly335Val	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1027G>A	p.Gly343Ser	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1118G>A	p.Gly373Asp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1145G>T	p.Gly382Val	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1432G>A	p.Gly478Arg	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1646G>A	p.Gly549Asp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1774G>A	p.Gly592Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1775G>A	p.Gly592Glu	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.980dup	p.His327Glnfs*5	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.979C>T	p.His327Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1352T>C	p.Ile451Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1868T>C	p.Ile623Thr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.1202T>A	p.Leu401His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1201C>G	p.Leu401Val	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1265T>C	p.Leu422Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1636_1637dup	p.Leu547Alafs*2	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2411del	p.Leu804Argfs*125	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1688C>A	p.Pro563His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1946C>T	p.Pro649Leu	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.2096C>T	p.Pro699Leu	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2384C>G	p.Pro795Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.858C>A	p.Ser286Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.917C>T	p.Ser306Leu	NM_000527	9x (HET: 9, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2072C>T	p.Ser691Leu	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2020	LDLR	GRCH37	19	c.1301C>G	p.Thr434Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1601C>A	p.Thr534Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.131G>A	p.Trp44*	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1329G>T	p.Trp443Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1594_1598dup	p.Trp533Cysfs*17	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.1729T>C	p.Trp577Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1731G>T	p.Trp577Cys	NM_000527	2x (HET: 0, HOM: 2)	5 pathogenic
2020	LDLR	GRCH37	19	c.1255T>G	p.Tyr419Asp	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1394A>G	p.Tyr465Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1285G>A	p.Val429Met	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1307T>C	p.Val436Ala	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1306G>A	p.Val436Met	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1567G>A	p.Val523Met	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.1916T>A	p.Val639Asp	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	LDLR	GRCH37	19	c.2416dup	p.Val806Glyfs*11	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2020	LDLR	GRCH37	19	c.2479G>T	p.Val827Phe	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	PCSK9	GRCH37	1	c.-331C>A	p.?	NM_174936	3x (HET: 3, HOM: 0)	4 likely pathogenic
2020	PCSK9	GRCH37	1	c.658G>A	p.Ala220Thr	NM_174936	3x (HET: 3, HOM: 0)	4 likely pathogenic
2020	PCSK9	GRCH37	1	c.479G>A	p.Arg160Gln	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	PCSK9	GRCH37	1	c.644G>A	p.Arg215His	NM_174936	1x (HET: 1, HOM: 0)	5 pathogenic
2020	PCSK9	GRCH37	1	c.1405C>T	p.Arg469Trp	NM_174936	1x (HET: 1, HOM: 0)	5 pathogenic
2020	PCSK9	GRCH37	1	c.1487G>A	p.Arg496Gln	NM_174936	3x (HET: 3, HOM: 0)	4 likely pathogenic
2020	PCSK9	GRCH37	1	c.1978G>A	p.Asp660Asn	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2020	PCSK9	GRCH37	1	c.589G>A	p.Glu197Lys	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	PCSK9	GRCH37	1	c.142G>A	p.Glu48Lys	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2020	PCSK9	GRCH37	1	c.1835A>G	p.Glu612Gly	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2020	PCSK9	GRCH37	1	c.35C>T	p.Pro12Leu	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2020	PCSK9	GRCH37	1	c.1399C>G	p.Pro467Ala	NM_174936	2x (HET: 2, HOM: 0)	5 pathogenic
2020	PCSK9	GRCH37	1	c.1394C>T	p.Ser465Leu	NM_174936	4x (HET: 4, HOM: 0)	4 likely pathogenic
2020	PCSK9	GRCH37	1	c.1402A>G	p.Thr468Ala	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity

Explanation of the Data

Source of data: Amsterdam UMC, VUmc Campus, Department of Human Genetics, Genome Analysis Lab.
Archive through 2016: The data through 2016 comes from JoJo Genetics. That dataset has been frozen and will no longer be updated.
Updated as of: 2025. We aim to update the data annually.
Questions and Owner Information: Amsterdam UMC, Department of Human Genetics, Genome Analysis Lab, is the owner of the data. The LEEFH Foundation facilitates the presentation of this data on its website. Questions about the data should be directed to Linda Zuurbier, l.c.zuurbier@amsterdamumc.nl.

Abbreviations Used