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 2021

Starting in 2018 174 Archive through 2016 979

Year	Gene	Ref. Genome	Chrom	c-position	p-position	NM	Number	Pathogenicity
2021	APOB	GRCH37	2	c.9175C>T	p.Arg3059Cys	NM_000384	2x (HET: 2, HOM: 0)	5 pathogenic
2021	APOB	GRCH37	2	c.10580G>A	p.Arg3527Gln	NM_000384	58x (HET: 58, HOM: 0)	5 pathogenic
2021	APOB	GRCH37	2	c.10579C>T	p.Arg3527Trp	NM_000384	2x (HET: 2, HOM: 0)	5 pathogenic
2021	APOB	GRCH37	2	c.10672C>T	p.Arg3558Cys	NM_000384	1x (HET: 1, HOM: 0)	5 pathogenic
2021	APOB	GRCH37	2	c.12739C>T	p.Gln4247*	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	APOB	GRCH37	2	c.13480_13482del	p.Gln4494del	NM_000384	1x (HET: 1, HOM: 0)	5 pathogenic
2021	APOB	GRCH37	2	c.10346A>C	p.Lys3449Thr	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	APOB	GRCH37	2	c.13028_13029del	p.Tyr4343Cysfs*3	NM_000384	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1359-1G>A	p.?	NM_000527	13x (HET: 13, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.313+1G>A	p.?	NM_000527	12x (HET: 12, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.621C>T	p.?	NM_000527	7x (HET: 7, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(1705+1_1706-1)_(*1_?)del	p.?	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1A>T	p.?	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(940+1_941-1)_(1186+1_1187-1)del	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1187-10G>A	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.190+4A>T	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.191-2A>G	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2390-2A>G	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.313+1G>C	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.314-1G>A	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(?_-1)_(190+1_191-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(?_-1)_(313+1_314-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(1186+1_1187-1)_(1845+1_1846-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(1186+1_1187-1)_(2140+1_2141-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(1705+1_1706-1)_(1845+1_1846-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(1845+1_1846-1)_(2140+1_2141-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(190+1_191-1)_(1186+1_1187-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(2311+1_2312-1)_(*1_?)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(2389+1_2390-1)_(*1_?)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(694+1_695-1)_(817+1_818-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.(940+1_941-1)_(1586+1_1587-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1060+14G>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.1358+1G>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1358+4A>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1706-2A>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.313+2dup	p.?	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2021	LDLR	GRCH37	19	c.313+5G>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.694+2T>C	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.694+3_694+19del	p.?	NM_000527	1x (HET: 0, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.694G>A	p.Ala232Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1195G>A	p.Ala399Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1291G>A	p.Ala431Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1502C>T	p.Ala501Val	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1618G>A	p.Ala540Thr	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1879G>A	p.Ala627Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2113G>C	p.Ala705Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2152G>A	p.Ala718Thr	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.2191_2203dup	p.Ala735Glyfs*51	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1048C>T	p.Arg350*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1247G>A	p.Arg416Gln	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1246C>T	p.Arg416Trp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1720C>T	p.Arg574Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1898G>A	p.Arg633His	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1898G>T	p.Arg633Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2127_2129del	p.Arg709del	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.2441G>A	p.Arg814Gln	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.815A>C	p.Asn272Thr	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.889A>C	p.Asn297His	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1284C>G	p.Asn428Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1690A>C	p.Asn564His	NM_000527	29x (HET: 29, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.352G>T	p.Asp118Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.662A>G	p.Asp221Gly	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.681C>G	p.Asp227Glu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.796G>A	p.Asp266Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.798T>A	p.Asp266Glu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.910G>A	p.Asp304Asn	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1243G>C	p.Asp415His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1414G>A	p.Asp472Asn	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1414G>T	p.Asp472Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1444G>A	p.Asp482Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1475A>G	p.Asp492Gly	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1737C>G	p.Asp579Glu	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.268G>A	p.Asp90Asn	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.429C>A	p.Cys143*	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.517T>C	p.Cys173Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.518del	p.Cys173Serfs*33	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.550T>C	p.Cys184Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.664_681dup	p.Cys222_Asp227dup	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.693C>A	p.Cys231*	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.742T>G	p.Cys248Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.763T>C	p.Cys255Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.826T>C	p.Cys276Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.939C>G	p.Cys313Trp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1019_1020delinsTG	p.Cys340Leu	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2021	LDLR	GRCH37	19	c.100T>G	p.Cys34Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1054T>C	p.Cys352Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1130G>A	p.Cys377Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.136T>G	p.Cys46Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1999T>C	p.Cys667Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1999T>G	p.Cys667Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.2043C>A	p.Cys681*	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2132G>A	p.Cys711Tyr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.761A>C	p.Gln254Pro	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1133A>C	p.Gln378Pro	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1150C>T	p.Gln384*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.301G>A	p.Glu101Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.622G>A	p.Glu208Lys	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.682G>C	p.Glu228Gln	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.682G>A	p.Glu228Lys	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1057G>A	p.Glu353Lys	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1995_2001dup	p.Glu668Leufs*3	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1027G>A	p.Gly343Ser	NM_000527	12x (HET: 12, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1145G>T	p.Gly382Val	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2021	LDLR	GRCH37	19	c.1187del	p.Gly396Alafs*17	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1432G>A	p.Gly478Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1646G>A	p.Gly549Asp	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1775G>A	p.Gly592Glu	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2027del	p.Gly676Alafs*33	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2021	LDLR	GRCH37	19	c.631C>T	p.His211Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.853C>T	p.His285Tyr	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.979C>T	p.His327Tyr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1747C>T	p.His583Tyr	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1678A>T	p.Ile560Phe	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1753del	p.Ile585Serfs*80	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1154T>C	p.Leu385Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1277T>G	p.Leu426Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1435C>G	p.Leu479Val	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1702C>G	p.Leu568Val	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1833G>C	p.Leu611Phe	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.932A>G	p.Lys311Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1128G>C	p.Lys376Asn	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.1743A>T	p.Lys581Asn	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.2446A>C	p.Lys816Gln	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.1592T>G	p.Met531Arg	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.431C>T	p.Pro144Leu	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.542C>T	p.Pro181Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1982C>T	p.Pro661Leu	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.2054C>T	p.Pro685Leu	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2053C>A	p.Pro685Thr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.2096C>T	p.Pro699Leu	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.413C>G	p.Ser138*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.530C>T	p.Ser177Leu	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.581_583delinsCTGCTCG	p.Ser194Thrfs*25	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.858C>A	p.Ser286Arg	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.917C>T	p.Ser306Leu	NM_000527	9x (HET: 9, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1340C>G	p.Ser447Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1677_1679delinsAGAGACA	p.Ser493Argfs*44	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2021	LDLR	GRCH37	19	c.1478_1479del	p.Ser493Cysfs*42	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1759del	p.Ser587Alafs*78	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1211C>T	p.Thr404Ile	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1301C>T	p.Thr434Met	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.185C>T	p.Thr62Met	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.131G>A	p.Trp44*	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1729T>C	p.Trp577Arg	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1729T>G	p.Trp577Gly	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.259T>C	p.Trp87Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.564C>G	p.Tyr188*	NM_000527	2x (HET: 1, HOM: 1)	5 pathogenic
2021	LDLR	GRCH37	19	c.1255T>G	p.Tyr419Asp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1394A>G	p.Tyr465Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.565del	p.Val189Cysfs*17	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1285G>A	p.Val429Met	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1289_1309dup	p.Val430_Val436dup	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	LDLR	GRCH37	19	c.1307T>C	p.Val436Ala	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1567G>A	p.Val523Met	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1666del	p.Val556*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.1732G>T	p.Val578Phe	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	LDLR	GRCH37	19	c.1851del	p.Val618Tyrfs*47	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2389G>T	p.Val797Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2389G>A	p.Val797Met	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2416dup	p.Val806Glyfs*11	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2021	LDLR	GRCH37	19	c.2558T>A	p.Val853Asp	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	PCSK9	GRCH37	1	c.658G>A	p.Ala220Thr	NM_174936	2x (HET: 2, HOM: 0)	4 likely pathogenic
2021	PCSK9	GRCH37	1	c.644G>A	p.Arg215His	NM_174936	3x (HET: 3, HOM: 0)	5 pathogenic
2021	PCSK9	GRCH37	1	c.1405C>T	p.Arg469Trp	NM_174936	5x (HET: 5, HOM: 0)	5 pathogenic
2021	PCSK9	GRCH37	1	c.1487G>A	p.Arg496Gln	NM_174936	4x (HET: 4, HOM: 0)	3 uncertain pathogenicity
2021	PCSK9	GRCH37	1	c.1486C>T	p.Arg496Trp	NM_174936	3x (HET: 3, HOM: 0)	4 likely pathogenic
2021	PCSK9	GRCH37	1	c.2038C>T	p.Arg680Trp	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	PCSK9	GRCH37	1	c.277C>T	p.Arg93Cys	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2021	PCSK9	GRCH37	1	c.286C>T	p.Arg96Cys	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	PCSK9	GRCH37	1	c.385G>A	p.Asp129Asn	NM_174936	1x (HET: 1, HOM: 0)	5 pathogenic
2021	PCSK9	GRCH37	1	c.394G>A	p.Glu132Lys	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	PCSK9	GRCH37	1	c.1399C>G	p.Pro467Ala	NM_174936	1x (HET: 1, HOM: 0)	5 pathogenic
2021	PCSK9	GRCH37	1	c.1915C>G	p.Pro639Ala	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2021	PCSK9	GRCH37	1	c.1394C>T	p.Ser465Leu	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic

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