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 2019

Starting in 2018 193 Archive through 2016 979

Year	Gene	Ref. Genome	Chrom	c-position	p-position	NM	Number	Pathogenicity
2019	APOB	GRCH37	2	c.10580G>A	p.Arg3527Gln	NM_000384	55x (HET: 55, HOM: 0)	5 pathogenic
2019	APOB	GRCH37	2	c.10579C>T	p.Arg3527Trp	NM_000384	2x (HET: 2, HOM: 0)	5 pathogenic
2019	APOB	GRCH37	2	c.10672C>T	p.Arg3558Cys	NM_000384	3x (HET: 3, HOM: 0)	5 pathogenic
2019	APOB	GRCH37	2	c.11953G>A	p.Asp3985Asn	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	APOB	GRCH37	2	c.12739C>T	p.Gln4247*	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	APOB	GRCH37	2	c.13480_13482del	p.Gln4494del	NM_000384	1x (HET: 1, HOM: 0)	5 pathogenic
2019	APOB	GRCH37	2	c.13320del	p.Glu4441Serfs*36	NM_000384	3x (HET: 3, HOM: 0)	4 likely pathogenic
2019	APOB	GRCH37	2	c.10346A>C	p.Lys3449Thr	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	APOB	GRCH37	2	c.13028_13029del	p.Tyr4343Cysfs*3	NM_000384	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1187-10G>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1187-2A>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1358+5G>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.-135C>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.-136C>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1706-1G>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1846-1G>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.-187C>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1A>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2140+103G>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.621C>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.666C>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.817+1G>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.817+5G>C	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.940+2T>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.313+1G>A	p.?	NM_000527	11x (HET: 11, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1359-1G>A	p.?	NM_000527	10x (HET: 10, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(940+1_941-1)_(1186+1_1187-1)del	p.?	NM_000527	9x (HET: 9, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.621C>T	p.?	NM_000527	8x (HET: 8, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.191-2A>G	p.?	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(?_-1)_(67+1_68-1)del	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(1705+1_1706-1)_(*1_?)del	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(190+1_191-1)_(1186+1_1187-1)dup	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(2311+1_2312-1)_(*2583_?)del	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1358+1G>A	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2390-2A>G	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(940+1_941-1)_(2140+1_2141-1)del	p.?	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2019	LDLR	GRCH37	19	c.1845+1G>T	p.?	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2019	LDLR	GRCH37	19	c.(?_-187)_(190+1_191-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(1186+1_1187-1)_(1845+1_1846-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(1845+1_1846-1)_(2389+1_2390-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(190+1_191-1)_(940+1_941-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(2311+1_2312-1)_(2389+1_2390-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(313+1_314-1)_(1186+1_1187-1)dup	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(67+1_68-1)_(190+1_191-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.(940+1_941-1)_(1586+1_1587-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1195G>A	p.Ala399Thr	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1291G>A	p.Ala431Thr	NM_000527	3x (HET: 2, HOM: 1)	5 pathogenic
2019	LDLR	GRCH37	19	c.148del	p.Ala50Leufs*156	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1618G>A	p.Ala540Thr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.2113G>C	p.Ala705Pro	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2191_2203dup	p.Ala735Glyfs*51	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.769C>T	p.Arg257Trp	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1048C>T	p.Arg350*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1246C>T	p.Arg416Trp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1721G>A	p.Arg574His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1783C>T	p.Arg595Trp	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2019	LDLR	GRCH37	19	c.1898G>A	p.Arg633His	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2230C>T	p.Arg744*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2441G>A	p.Arg814Gln	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1274A>T	p.Asn425Ile	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1284C>G	p.Asn428Lys	NM_000527	2x (HET: 2, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1690A>C	p.Asn564His	NM_000527	24x (HET: 23, HOM: 1)	5 pathogenic
2019	LDLR	GRCH37	19	c.1773delinsTG	p.Asn594Glnfs*9	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1895A>T	p.Asn632Ile	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.352G>T	p.Asp118Tyr	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2019	LDLR	GRCH37	19	c.502G>C	p.Asp168His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.523del	p.Asp175Metfs*31	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.526_533dup	p.Asp178Glufs*31	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.662A>G	p.Asp221Gly	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.660del	p.Asp221Thrfs*44	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.681C>A	p.Asp227Glu	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.798T>A	p.Asp266Glu	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1066G>A	p.Asp356Asn	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1066G>T	p.Asp356Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1243G>C	p.Asp415His	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1429G>A	p.Asp477Asn	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	LDLR	GRCH37	19	c.1474G>A	p.Asp492Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1475A>G	p.Asp492Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.2320G>A	p.Asp774Asn	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	LDLR	GRCH37	19	c.268G>A	p.Asp90Asn	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.311G>A	p.Cys104Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.324_325delGTinsTC	p.Cys109Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.429C>A	p.Cys143*	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.501C>A	p.Cys167*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.518G>A	p.Cys173Tyr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.550T>C	p.Cys184Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.647G>A	p.Cys216Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.664T>C	p.Cys222Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.763T>C	p.Cys255Arg	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.939C>A	p.Cys313*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.938G>A	p.Cys313Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.953G>A	p.Cys318Tyr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.973T>C	p.Cys325Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.100T>G	p.Cys34Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.187T>G	p.Cys63Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.2043C>A	p.Cys681*	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.761A>C	p.Gln254Pro	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.97C>T	p.Gln33*	NM_000527	2x (HET: 0, HOM: 2)	5 pathogenic
2019	LDLR	GRCH37	19	c.1151A>C	p.Gln384Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2033_2044del	p.Gln678_Cys681del	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2056C>T	p.Gln686*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.301G>A	p.Glu101Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.418G>A	p.Glu140Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.601G>A	p.Glu201Lys	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.682G>A	p.Glu228Lys	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.862G>A	p.Glu288Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.923A>G	p.Glu308Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1057G>A	p.Glu353Lys	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1843G>A	p.Glu615Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.654_656del	p.Gly219del	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.940G>A	p.Gly314Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.970G>T	p.Gly324Cys	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.970G>A	p.Gly324Ser	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1004G>T	p.Gly335Val	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1027G>A	p.Gly343Ser	NM_000527	9x (HET: 9, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1118G>A	p.Gly373Asp	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1432G>A	p.Gly478Arg	NM_000527	2x (HET: 2, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1486_1487del	p.Gly496Hisfs*39	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1646G>A	p.Gly549Asp	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1774G>A	p.Gly592Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1775G>A	p.Gly592Glu	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.227_233del	p.Gly76Valfs*128	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2414G>A	p.Gly805Glu	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.632A>T	p.His211Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1454A>G	p.His485Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1747C>T	p.His583Tyr	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1966C>A	p.His656Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2510A>G	p.His837Arg	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	LDLR	GRCH37	19	c.1322T>C	p.Ile441Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1624A>T	p.Ile542Phe	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	LDLR	GRCH37	19	c.1678A>T	p.Ile560Phe	NM_000527	2x (HET: 0, HOM: 2)	5 pathogenic
2019	LDLR	GRCH37	19	c.1871_1873del	p.Ile624del	NM_000527	1x (HET: 0, HOM: 1)	5 pathogenic
2019	LDLR	GRCH37	19	c.41dup	p.Leu14Phefs*38	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1154T>C	p.Leu385Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1265T>C	p.Leu422Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1703T>C	p.Leu568Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1A>G	p.Met1Val	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1946C>A	p.Pro649Gln	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	LDLR	GRCH37	19	c.2054C>T	p.Pro685Leu	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2096C>T	p.Pro699Leu	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.2384C>A	p.Pro795His	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.251C>T	p.Pro84Leu	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.413C>G	p.Ser138*	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.530C>T	p.Ser177Leu	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.858C>A	p.Ser286Arg	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.917C>T	p.Ser306Leu	NM_000527	7x (HET: 7, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.977C>G	p.Ser326Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1093A>G	p.Ser365Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1340C>G	p.Ser447Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1478_1479del	p.Ser493Cysfs*42	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1495T>C	p.Ser499Pro	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1549T>C	p.Ser517Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1715G>A	p.Ser572Asn	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.2072C>G	p.Ser691Trp	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.2538C>G	p.Ser846Arg	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	LDLR	GRCH37	19	c.1301C>G	p.Thr434Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1361C>T	p.Thr454Ile	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	LDLR	GRCH37	19	c.131G>A	p.Trp44*	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1329G>T	p.Trp443Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1468T>C	p.Trp490Arg	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1729T>C	p.Trp577Arg	NM_000527	4x (HET: 2, HOM: 2)	5 pathogenic
2019	LDLR	GRCH37	19	c.259T>C	p.Trp87Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1325A>G	p.Tyr442Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1324T>C	p.Tyr442His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1658_1660del	p.Tyr553del	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1285G>A	p.Val429Met	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1307T>C	p.Val436Ala	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1567G>A	p.Val523Met	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2019	LDLR	GRCH37	19	c.1571T>C	p.Val524Ala	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	LDLR	GRCH37	19	c.1837G>A	p.Val613Ile	NM_000527	1x (HET: 1, HOM: 0)	2 likely benign
2019	LDLR	GRCH37	19	c.2359G>A	p.Val787Met	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	LDLR	GRCH37	19	c.2416G>C	p.Val806Leu	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.-11C>T	p.?	NM_174936	3x (HET: 3, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.658G>A	p.Ala220Thr	NM_174936	2x (HET: 2, HOM: 0)	4 likely pathogenic
2019	PCSK9	GRCH37	1	c.493C>T	p.Arg165Trp	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.644G>A	p.Arg215His	NM_174936	1x (HET: 1, HOM: 0)	5 pathogenic
2019	PCSK9	GRCH37	1	c.709C>T	p.Arg237Trp	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.1070G>A	p.Arg357His	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.1406G>A	p.Arg469Gln	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	PCSK9	GRCH37	1	c.1405C>T	p.Arg469Trp	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	PCSK9	GRCH37	1	c.1487G>A	p.Arg496Gln	NM_174936	2x (HET: 2, HOM: 0)	4 likely pathogenic
2019	PCSK9	GRCH37	1	c.1486C>T	p.Arg496Trp	NM_174936	1x (HET: 1, HOM: 0)	5 pathogenic
2019	PCSK9	GRCH37	1	c.670G>C	p.Asp224His	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.1120G>A	p.Asp374Asn	NM_174936	2x (HET: 2, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.394G>A	p.Glu132Lys	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.142G>A	p.Glu48Lys	NM_174936	4x (HET: 4, HOM: 0)	5 pathogenic
2019	PCSK9	GRCH37	1	c.530G>A	p.Gly177Asp	NM_174936	2x (HET: 2, HOM: 0)	4 likely pathogenic
2019	PCSK9	GRCH37	1	c.1171C>A	p.His391Asn	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	PCSK9	GRCH37	1	c.1399C>G	p.Pro467Ala	NM_174936	2x (HET: 2, HOM: 0)	5 pathogenic
2019	PCSK9	GRCH37	1	c.1915C>G	p.Pro639Ala	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2019	PCSK9	GRCH37	1	c.1394C>T	p.Ser465Leu	NM_174936	2x (HET: 2, HOM: 0)	4 likely pathogenic
2019	PCSK9	GRCH37	1	c.697G>T	p.Val233Leu	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2019	PCSK9	GRCH37	1	c.1378G>A	p.Val460Ile	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