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 2023

Starting in 2018 154 Archive through 2016 979

Year	Gene	Ref. Genome	Chrom	c-position	p-position	NM	Number	Pathogenicity
2023	APOB	GRCH37	2	c.9175C>T	p.Arg3059Cys	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	APOB	GRCH37	2	c.10580G>A	p.Arg3527Gln	NM_000384	48x (HET: 48, HOM: 0)	5 pathogenic
2023	APOB	GRCH37	2	c.10579C>T	p.Arg3527Trp	NM_000384	2x (HET: 2, HOM: 0)	5 pathogenic
2023	APOB	GRCH37	2	c.10672C>T	p.Arg3558Cys	NM_000384	7x (HET: 7, HOM: 0)	3 uncertain pathogenicity
2023	APOB	GRCH37	2	c.13480_13482del	p.Gln4494del	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	APOB	GRCH37	2	c.13320del	p.Glu4441Serfs*36	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	APOB	GRCH37	2	c.10708C>T	p.His3570Tyr	NM_000384	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	APOB	GRCH37	2	c.10182G>T	p.Lys3394Asn	NM_000384	1x (HET: 1, HOM: 0)	5 pathogenic
2023	APOB	GRCH37	2	c.10346A>C	p.Lys3449Thr	NM_000384	4x (HET: 4, HOM: 0)	4 likely pathogenic
2023	APOB	GRCH37	2	c.13028_13029del	p.Tyr4343Cysfs*3	NM_000384	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.313+1G>A	p.?	NM_000527	9x (HET: 9, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1359-1G>A	p.?	NM_000527	8x (HET: 8, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.(940+1_941-1)_(1186+1_1187-1)del	p.?	NM_000527	6x (HET: 6, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.621C>T	p.?	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.(1186+1_1187-1)_(1845+1_1846-1)dup	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.(190+1_191-1)_(1186+1_1187-1)dup	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1187-10G>A	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1358+5G>T	p.?	NM_000527	2x (HET: 2, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.191-2A>G	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2140+103G>T	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.313+2T>C	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.314-1G>A	p.?	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.(?_-344)_(67+1_68-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.(1845+1_1846-1)_(2311+1_2312-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.(2311+1_2312-1)_(*1_?)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.(940+1_941-1)_(1060+1_1061-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.(940+1_941-1)_(2311+1_2312-1)del	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1358+1G>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1586+5G>A	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1587-3C>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.190+4A>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1A>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2312-2A>C	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.2390-2A>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.313+1G>C	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.666C>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.940+1G>T	p.?	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.940+2T>G	p.?	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1195G>A	p.Ala399Thr	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1291G>A	p.Ala431Thr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1618G>A	p.Ala540Thr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.2113G>C	p.Ala705Pro	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.343C>T	p.Arg115Cys	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.769C>T	p.Arg257Trp	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1048C>T	p.Arg350*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1217G>A	p.Arg406Gln	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1216C>T	p.Arg406Trp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1247G>A	p.Arg416Gln	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1720C>T	p.Arg574Cys	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.1721G>A	p.Arg574His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1784G>T	p.Arg595Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1897C>T	p.Arg633Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1898G>A	p.Arg633His	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1898G>T	p.Arg633Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.230dup	p.Arg78Profs*52	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2441G>A	p.Arg814Gln	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.241C>T	p.Arg81Cys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1284C>G	p.Asn428Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1460A>G	p.Asn487Ser	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1690A>G	p.Asn564Asp	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1690A>C	p.Asn564His	NM_000527	23x (HET: 23, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.661G>A	p.Asp221Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.662A>G	p.Asp221Gly	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.681C>G	p.Asp227Glu	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.796G>T	p.Asp266Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.910G>A	p.Asp304Asn	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1061A>G	p.Asp354Gly	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1156G>T	p.Asp386Tyr	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1243G>C	p.Asp415His	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1414G>T	p.Asp472Tyr	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1429G>A	p.Asp477Asn	NM_000527	1x (HET: 0, HOM: 1)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1444G>A	p.Asp482Asn	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2100C>A	p.Asp700Glu	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.268G>A	p.Asp90Asn	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.326G>A	p.Cys109Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.361T>G	p.Cys121Gly	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.501C>A	p.Cys167*	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.590G>A	p.Cys197Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.666C>A	p.Cys222*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.742T>G	p.Cys248Gly	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.763T>C	p.Cys255Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.886T>G	p.Cys296Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.986G>A	p.Cys329Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.187T>G	p.Cys63Gly	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.2043C>A	p.Cys681*	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.224G>A	p.Cys75Tyr	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2407_2424dup	p.Cys803_Leu808dup	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.97C>T	p.Gln33*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.178C>T	p.Gln60*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2033_2044del	p.Gln678_Cys681del	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.301G>A	p.Glu101Lys	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.682G>T	p.Glu228*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.682G>A	p.Glu228Lys	NM_000527	7x (HET: 7, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.862G>A	p.Glu288Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1843G>A	p.Glu615Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1995_2001dup	p.Glu668Leufs*3	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2287G>T	p.Glu763*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1027G>A	p.Gly343Ser	NM_000527	10x (HET: 10, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1118G>A	p.Gly373Asp	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1145G>T	p.Gly382Val	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1432G>A	p.Gly478Arg	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.143G>A	p.Gly48Asp	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1646G>A	p.Gly549Asp	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1775G>A	p.Gly592Glu	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1773_1774delinsT	p.Gly593Alafs*72	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.227_233del	p.Gly76Valfs*128	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.979C>T	p.His327Tyr	NM_000527	3x (HET: 3, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.1820A>G	p.His607Arg	NM_000527	2x (HET: 2, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.1966C>A	p.His656Asn	NM_000527	3x (HET: 3, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.483C>G	p.Ile161Met	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.628A>C	p.Ile210Leu	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1678A>T	p.Ile560Phe	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1754T>C	p.Ile585Thr	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.1867_1868del	p.Ile623Hisfs*21	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.41dup	p.Leu14Phefs*38	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1265T>C	p.Leu422Pro	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1833G>C	p.Leu611Phe	NM_000527	3x (HET: 3, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2180_2184dup	p.Leu729Serfs*3	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1520A>C	p.Lys507Thr	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1577C>T	p.Pro526Leu	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1688C>A	p.Pro563His	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1946C>T	p.Pro649Leu	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.2054C>T	p.Pro685Leu	NM_000527	4x (HET: 4, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.530C>T	p.Ser177Leu	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.755G>A	p.Ser252Asn	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.858C>A	p.Ser286Arg	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.917C>T	p.Ser306Leu	NM_000527	15x (HET: 15, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1093A>G	p.Ser365Gly	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1330T>C	p.Ser444Pro	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.1478_1479del	p.Ser493Cysfs*42	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1661C>G	p.Ser554Trp	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1759del	p.Ser587Alafs*78	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2546C>A	p.Ser849*	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1301C>A	p.Thr434Lys	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1601C>A	p.Thr534Asn	NM_000527	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	LDLR	GRCH37	19	c.131G>A	p.Trp44*	NM_000527	8x (HET: 8, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1729T>C	p.Trp577Arg	NM_000527	5x (HET: 5, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1105G>A	p.Val369Met	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1285G>A	p.Val429Met	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1307T>C	p.Val436Ala	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.1492G>C	p.Val498Leu	NM_000527	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	LDLR	GRCH37	19	c.1567G>A	p.Val523Met	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2389G>T	p.Val797Leu	NM_000527	1x (HET: 1, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2389G>A	p.Val797Met	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	LDLR	GRCH37	19	c.2416dup	p.Val806Glyfs*11	NM_000527	2x (HET: 2, HOM: 0)	5 pathogenic
2023	PCSK9	GRCH37	1	c.658G>A	p.Ala220Thr	NM_174936	3x (HET: 3, HOM: 0)	3 uncertain pathogenicity
2023	PCSK9	GRCH37	1	c.644G>A	p.Arg215His	NM_174936	1x (HET: 1, HOM: 0)	5 pathogenic
2023	PCSK9	GRCH37	1	c.1487G>A	p.Arg496Gln	NM_174936	2x (HET: 2, HOM: 0)	3 uncertain pathogenicity
2023	PCSK9	GRCH37	1	c.1486C>T	p.Arg496Trp	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	PCSK9	GRCH37	1	c.1120G>A	p.Asp374Asn	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	PCSK9	GRCH37	1	c.530G>A	p.Gly177Asp	NM_174936	1x (HET: 1, HOM: 0)	3 uncertain pathogenicity
2023	PCSK9	GRCH37	1	c.1399C>G	p.Pro467Ala	NM_174936	1x (HET: 1, HOM: 0)	5 pathogenic
2023	PCSK9	GRCH37	1	c.212C>T	p.Pro71Leu	NM_174936	1x (HET: 1, HOM: 0)	4 likely pathogenic
2023	PCSK9	GRCH37	1	c.1394C>T	p.Ser465Leu	NM_174936	2x (HET: 2, 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