ClinVar for MedGen (Select 355007) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 492

<< First< Prev

Page of 5

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24275321.	NC_000001.10:g.(?_55505511)_(55505737_?)dup GRCh37: Chr1:55505511-55505737	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 24181302.	NM_174936.4(PCSK9):c.1394C>G (p.Ser465Trp) GRCh37: Chr1:55524211 GRCh38: Chr1:55058538	PCSK9	S340W, S401W, S407W, S446W, S465W, S466W, S506W	Hypercholesterolemia, autosomal dominant, 3	Likely pathogenic (Aug 15, 2022)	criteria provided, single submitter
Select item 22014943.	NM_174936.4(PCSK9):c.114C>T (p.Tyr38=) GRCh37: Chr1:55505624 GRCh38: Chr1:55039951	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 22010234.	NM_174936.4(PCSK9):c.810T>C (p.Phe270=) GRCh37: Chr1:55521676 GRCh38: Chr1:55056003	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 21990285.	NM_174936.4(PCSK9):c.799+15C>T GRCh37: Chr1:55518479 GRCh38: Chr1:55052806	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 21965656.	NM_174936.4(PCSK9):c.207+14_207+15delinsAG GRCh37: Chr1:55505731-55505732 GRCh38: Chr1:55040058-55040059	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 21915427.	NM_174936.4(PCSK9):c.1180+19G>A GRCh37: Chr1:55523206 GRCh38: Chr1:55057533	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 21612878.	NM_174936.4(PCSK9):c.523+9C>T GRCh37: Chr1:55512328 GRCh38: Chr1:55046655	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 21556289.	NM_174936.4(PCSK9):c.207+9G>A GRCh37: Chr1:55505726 GRCh38: Chr1:55040053	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 215107010.	NM_174936.4(PCSK9):c.436G>A (p.Asp146Asn) GRCh37: Chr1:55512232 GRCh38: Chr1:55046559	PCSK9	D21N, D187N, D82N, D146N	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 215004111.	NM_174936.4(PCSK9):c.1503+20GT[31] GRCh37: Chr1:55524339-55524340 GRCh38: Chr1:55058666-55058667	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 214948112.	NM_174936.4(PCSK9):c.995A>G (p.Glu332Gly) GRCh37: Chr1:55521861 GRCh38: Chr1:55056188	PCSK9	E333G, E268G, E313G, E207G, E332G, E373G	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 214310413.	NM_174936.4(PCSK9):c.285C>T (p.Ala95=) GRCh37: Chr1:55509593 GRCh38: Chr1:55043920	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 212956914.	NM_174936.4(PCSK9):c.1560C>A (p.Val520=) GRCh37: Chr1:55525215 GRCh38: Chr1:55059542	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 207991115.	NM_174936.4(PCSK9):c.86G>A (p.Arg29His) GRCh37: Chr1:55505596 GRCh38: Chr1:55039923	PCSK9	R29H	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 207050816.	NM_174936.4(PCSK9):c.441C>T (p.Ser147=) GRCh37: Chr1:55512237 GRCh38: Chr1:55046564	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 205097417.	NM_174936.4(PCSK9):c.1681+19C>T GRCh37: Chr1:55525355 GRCh38: Chr1:55059682	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 204875218.	NM_174936.4(PCSK9):c.189del (p.Phe64fs) GRCh37: Chr1:55505698 GRCh38: Chr1:55040025	PCSK9	F64fs	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 204442619.	NM_174936.4(PCSK9):c.399+10C>G GRCh37: Chr1:55509717 GRCh38: Chr1:55044044	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 204066520.	NM_174936.4(PCSK9):c.915G>A (p.Ala305=) GRCh37: Chr1:55521781 GRCh38: Chr1:55056108	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 203742221.	NM_174936.4(PCSK9):c.618G>A (p.Glu206=) GRCh37: Chr1:55518045 GRCh38: Chr1:55052372	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 203191522.	NM_174936.4(PCSK9):c.65_66insGCTCCT (p.Leu23_Gly24insLeuLeu) GRCh37: Chr1:55505573-55505574 GRCh38: Chr1:55039900-55039901	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 202986023.	NM_174936.4(PCSK9):c.135G>A (p.Leu45=) GRCh37: Chr1:55505645 GRCh38: Chr1:55039972	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 202792724.	NM_174936.4(PCSK9):c.381T>G (p.Ser127Arg) GRCh37: Chr1:55509689 GRCh38: Chr1:55044016	PCSK9	S168R, S127R, S2R	Hypercholesterolemia, autosomal dominant, 3	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 202084825.	NM_174936.4(PCSK9):c.1682-5C>T GRCh37: Chr1:55527043 GRCh38: Chr1:55061370	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 201141426.	NM_174936.4(PCSK9):c.2059G>C (p.Ala687Pro) GRCh37: Chr1:55529237 GRCh38: Chr1:55063564	PCSK9	A562P, A668P, A728P, A688P, A520P, A629P, A687P, A623P, A701P	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 200135127.	NM_174936.4(PCSK9):c.1311C>A (p.Thr437=) GRCh37: Chr1:55523839 GRCh38: Chr1:55058166	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 199563028.	NM_174936.4(PCSK9):c.1519C>T (p.Leu507=) GRCh37: Chr1:55525174 GRCh38: Chr1:55059501	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 197557929.	NM_174936.4(PCSK9):c.1355-6T>C GRCh37: Chr1:55524166 GRCh38: Chr1:55058493	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 197550930.	NM_174936.4(PCSK9):c.1893C>A (p.Thr631=) GRCh37: Chr1:55529071 GRCh38: Chr1:55063398	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 197408331.	NM_174936.4(PCSK9):c.546G>A (p.Val182=) GRCh37: Chr1:55517973 GRCh38: Chr1:55052300	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 195562632.	NM_174936.4(PCSK9):c.1089C>T (p.Ala363=) GRCh37: Chr1:55523096 GRCh38: Chr1:55057423	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 193273133.	NM_174936.4(PCSK9):c.553C>G (p.Leu185Val) GRCh37: Chr1:55517980 GRCh38: Chr1:55052307	PCSK9	L226V, L121V, L166V, L185V, L60V	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 193230334.	NM_174936.4(PCSK9):c.237G>A (p.Val79=) GRCh37: Chr1:55509545 GRCh38: Chr1:55043872	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 177166035.	NM_174936.4(PCSK9):c.1397G>A (p.Gly466Glu) GRCh37: Chr1:55524214 GRCh38: Chr1:55058541	PCSK9	G466E, G408E, G402E, G467E, G341E, G447E, G507E	Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Jul 30, 2019)	criteria provided, multiple submitters, no conflicts
Select item 175029736.	NM_174936.4(PCSK9):c.588C>A (p.Ile196=) GRCh37: Chr1:55518015 GRCh38: Chr1:55052342	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174976437.	NM_174936.4(PCSK9):c.57G>C (p.Leu19=) GRCh37: Chr1:55505567 GRCh38: Chr1:55039894	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174579138.	NM_174936.4(PCSK9):c.516G>A (p.Gln172=) GRCh37: Chr1:55512312 GRCh38: Chr1:55046639	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Cardiovascular phenotype	Likely benign (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168499339.	NM_174936.4(PCSK9):c.1228G>A (p.Glu410Lys) GRCh37: Chr1:55523756 GRCh38: Chr1:55058083	PCSK9	E410K, E346K, E391K, E285K, E411K, E451K	not specified, Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167216640.	NM_174936.4(PCSK9):c.1875C>A (p.Ala625=) GRCh37: Chr1:55529053 GRCh38: Chr1:55063380	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jan 16, 2021)	criteria provided, single submitter
Select item 167079341.	NM_174936.4(PCSK9):c.387C>T (p.Asp129=) GRCh37: Chr1:55509695 GRCh38: Chr1:55044022	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Dec 25, 2020)	criteria provided, single submitter
Select item 166716142.	NM_174936.4(PCSK9):c.699G>T (p.Val233=) GRCh37: Chr1:55518364 GRCh38: Chr1:55052691	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 166701043.	NM_174936.4(PCSK9):c.1575G>A (p.Arg525=) GRCh37: Chr1:55525230 GRCh38: Chr1:55059557	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jun 16, 2021)	criteria provided, single submitter
Select item 166017744.	NM_174936.4(PCSK9):c.1503+20GT[29] GRCh37: Chr1:55524339-55524340 GRCh38: Chr1:55058666-55058667	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 165509345.	NM_174936.4(PCSK9):c.792C>T (p.Thr264=) GRCh37: Chr1:55518457 GRCh38: Chr1:55052784	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Apr 14, 2021)	criteria provided, single submitter
Select item 165320146.	NM_174936.4(PCSK9):c.21G>A (p.Arg7=) GRCh37: Chr1:55505531 GRCh38: Chr1:55039858	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Nov 18, 2020)	criteria provided, single submitter
Select item 164465647.	NM_174936.4(PCSK9):c.1419C>T (p.Ala473=) GRCh37: Chr1:55524236 GRCh38: Chr1:55058563	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 162638648.	NM_174936.4(PCSK9):c.1212G>T (p.Pro404=) GRCh37: Chr1:55523740 GRCh38: Chr1:55058067	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Feb 11, 2021)	criteria provided, single submitter
Select item 162506749.	NM_174936.4(PCSK9):c.591G>A (p.Glu197=) GRCh37: Chr1:55518018 GRCh38: Chr1:55052345	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Cardiovascular phenotype	Likely benign (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 162163650.	NM_174936.4(PCSK9):c.1503+20GT[30] GRCh37: Chr1:55524339-55524340 GRCh38: Chr1:55058666-55058667	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 160449051.	NM_174936.4(PCSK9):c.1503+13C>T GRCh37: Chr1:55524333 GRCh38: Chr1:55058660	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jun 12, 2021)	criteria provided, single submitter
Select item 159866252.	NM_174936.4(PCSK9):c.1503+20GT[21] GRCh37: Chr1:55524340-55524349 GRCh38: Chr1:55058667-55058676	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Benign (Oct 15, 2022)	criteria provided, single submitter
Select item 159251853.	NM_174936.4(PCSK9):c.658-6G>A GRCh37: Chr1:55518317 GRCh38: Chr1:55052644	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Feb 17, 2021)	criteria provided, single submitter
Select item 157907054.	NM_174936.4(PCSK9):c.1503+20GT[23] GRCh37: Chr1:55524340-55524345 GRCh38: Chr1:55058667-55058672	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 157682455.	NM_174936.4(PCSK9):c.1656C>T (p.Cys552=) GRCh37: Chr1:55525311 GRCh38: Chr1:55059638	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 157190056.	NM_174936.4(PCSK9):c.156G>T (p.Leu52=) GRCh37: Chr1:55505666 GRCh38: Chr1:55039993	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Dec 10, 2020)	criteria provided, single submitter
Select item 157057557.	NM_174936.4(PCSK9):c.1812A>C (p.Pro604=) GRCh37: Chr1:55527178 GRCh38: Chr1:55061505	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 156820058.	NM_174936.4(PCSK9):c.1503+20GT[22] GRCh37: Chr1:55524340-55524347 GRCh38: Chr1:55058667-55058674	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 156484859.	NM_174936.4(PCSK9):c.27C>T (p.Ser9=) GRCh37: Chr1:55505537 GRCh38: Chr1:55039864	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Cardiovascular phenotype	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156152160.	NM_174936.4(PCSK9):c.523+13T>A GRCh37: Chr1:55512332 GRCh38: Chr1:55046659	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 27, 2021)	criteria provided, single submitter
Select item 155761361.	NM_174936.4(PCSK9):c.1452G>A (p.Leu484=) GRCh37: Chr1:55524269 GRCh38: Chr1:55058596	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Nov 18, 2021)	criteria provided, single submitter
Select item 155620562.	NM_174936.4(PCSK9):c.1131C>T (p.Thr377=) GRCh37: Chr1:55523138 GRCh38: Chr1:55057465	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 155156763.	NM_174936.4(PCSK9):c.799+10G>C GRCh37: Chr1:55518474 GRCh38: Chr1:55052801	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 155150464.	NM_174936.4(PCSK9):c.186C>T (p.Ala62=) GRCh37: Chr1:55505696 GRCh38: Chr1:55040023	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155050865.	NM_174936.4(PCSK9):c.1863+20C>T GRCh37: Chr1:55527249 GRCh38: Chr1:55061576	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 154476166.	NM_174936.4(PCSK9):c.1158A>C (p.Ser386=) GRCh37: Chr1:55523165 GRCh38: Chr1:55057492	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 19, 2021)	criteria provided, single submitter
Select item 153906967.	NM_174936.4(PCSK9):c.1355-16C>G GRCh37: Chr1:55524156 GRCh38: Chr1:55058483	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Benign (Nov 1, 2021)	criteria provided, single submitter
Select item 153267868.	NM_174936.4(PCSK9):c.208-13T>G GRCh37: Chr1:55509503 GRCh38: Chr1:55043830	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 152407969.	NM_174936.4(PCSK9):c.652A>G (p.Arg218Gly) GRCh37: Chr1:55518079 GRCh38: Chr1:55052406	PCSK9	R218G, R199G, R259G, R93G, R154G	Hypercholesterolemia, autosomal dominant, 3	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 152088070.	NM_174936.4(PCSK9):c.1004C>T (p.Thr335Ile) GRCh37: Chr1:55523011 GRCh38: Chr1:55057338	PCSK9	T335I, T316I, T376I, T210I, T336I, T271I	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 148631671.	NM_174936.4(PCSK9):c.2066A>T (p.Gln689Leu) GRCh37: Chr1:55529244 GRCh38: Chr1:55063571	PCSK9	Q689L, Q522L, Q564L, Q670L, Q730L, Q625L, Q631L, Q690L, Q703L	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 146817572.	NM_174936.4(PCSK9):c.8C>A (p.Thr3Asn) GRCh37: Chr1:55505518 GRCh38: Chr1:55039845	PCSK9	T3N	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 145729173.	NM_174936.4(PCSK9):c.351C>T (p.Gly117=) GRCh37: Chr1:55509659 GRCh38: Chr1:55043986	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 29, 2021)	criteria provided, single submitter
Select item 145560174.	NM_174936.4(PCSK9):c.717C>T (p.Ala239=) GRCh37: Chr1:55518382 GRCh38: Chr1:55052709	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144341175.	NM_174936.4(PCSK9):c.589G>A (p.Glu197Lys) GRCh37: Chr1:55518016 GRCh38: Chr1:55052343	PCSK9	E197K, E133K, E72K, E238K, E178K	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 142870776.	NM_174936.4(PCSK9):c.1115C>T (p.Ser372Phe) GRCh37: Chr1:55523122 GRCh38: Chr1:55057449	PCSK9	S372F, S308F, S353F, S413F, S247F, S373F	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 142530577.	NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile) GRCh37: Chr1:55525327 GRCh38: Chr1:55059654	PCSK9	V558I, V433I, V494I, V572I, V500I, V559I, V599I, V539I	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 134631978.	NM_174936.4(PCSK9):c.203C>T (p.Ala68Val) GRCh37: Chr1:55505713 GRCh38: Chr1:55040040	PCSK9	A68V	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Sep 6, 2021)	criteria provided, single submitter
Select item 134621279.	NM_174936.4(PCSK9):c.799+5del GRCh37: Chr1:55518469 GRCh38: Chr1:55052796	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 133195780.	NM_174936.4(PCSK9):c.1882G>A (p.Glu628Lys) GRCh37: Chr1:55529060 GRCh38: Chr1:55063387	PCSK9	E628K, E461K, E564K, E570K, E629K, E642K, E669K, E503K, E609K	Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132486681.	NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg) GRCh37: Chr1:55509624 GRCh38: Chr1:55043951	PCSK9	G106R	Hypercholesterolemia, autosomal dominant, 3	Conflicting interpretations of pathogenicity (Aug 7, 2021)	criteria provided, conflicting interpretations
Select item 131980382.	NM_174936.4(PCSK9):c.1054G>T (p.Gly352Trp) GRCh37: Chr1:55523061 GRCh38: Chr1:55057388	PCSK9	G352W, G227W, G353W, G288W, G333W, G393W	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 117228583.	NM_174936.4(PCSK9):c.1130C>A (p.Thr377Asn) GRCh37: Chr1:55523137 GRCh38: Chr1:55057464	PCSK9	T377N, T313N, T358N, T418N, T378N, T252N	Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Uncertain significance (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117203984.	NM_174936.4(PCSK9):c.658-2A>C GRCh37: Chr1:55518321 GRCh38: Chr1:55052648	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117203785.	NM_174936.4(PCSK9):c.401C>A (p.Ala134Asp) GRCh37: Chr1:55512197 GRCh38: Chr1:55046524	PCSK9	A134D	Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117104186.	NM_174936.4(PCSK9):c.1323G>A (p.Val441=) GRCh37: Chr1:55523851 GRCh38: Chr1:55058178	PCSK9		Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3	Conflicting interpretations of pathogenicity (Oct 16, 2021)	criteria provided, conflicting interpretations
Select item 115778487.	NM_174936.4(PCSK9):c.1809C>T (p.Ala603=) GRCh37: Chr1:55527175 GRCh38: Chr1:55061502	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115697488.	NM_174936.4(PCSK9):c.1683C>G (p.Gly561=) GRCh37: Chr1:55527049 GRCh38: Chr1:55061376	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jul 31, 2019)	criteria provided, single submitter
Select item 114501189.	NM_174936.4(PCSK9):c.561C>A (p.Thr187=) GRCh37: Chr1:55517988 GRCh38: Chr1:55052315	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Cardiovascular phenotype	Likely benign (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114158490.	NM_174936.4(PCSK9):c.1764C>T (p.Cys588=) GRCh37: Chr1:55527130 GRCh38: Chr1:55061457	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Dec 5, 2020)	criteria provided, multiple submitters, no conflicts
Select item 114157691.	NM_174936.4(PCSK9):c.1422C>T (p.Val474=) GRCh37: Chr1:55524239 GRCh38: Chr1:55058566	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113972692.	NM_174936.4(PCSK9):c.147G>A (p.Glu49=) GRCh37: Chr1:55505657 GRCh38: Chr1:55039984	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Mar 22, 2019)	criteria provided, single submitter
Select item 113730293.	NM_174936.4(PCSK9):c.453C>T (p.Ala151=) GRCh37: Chr1:55512249 GRCh38: Chr1:55046576	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113353194.	NM_174936.4(PCSK9):c.1023C>T (p.Ala341=) GRCh37: Chr1:55523030 GRCh38: Chr1:55057357	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 13, 2019)	criteria provided, single submitter
Select item 112025795.	NM_174936.4(PCSK9):c.1906A>C (p.Ser636Arg) GRCh37: Chr1:55529084 GRCh38: Chr1:55063411	PCSK9	S636R, S578R, S617R, S511R, S572R, S650R, S677R, S469R, S637R	Hypercholesterolemia, autosomal dominant, 3	Likely pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 111913696.	NM_174936.4(PCSK9):c.156G>C (p.Leu52=) GRCh37: Chr1:55505666 GRCh38: Chr1:55039993	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 15, 2019)	criteria provided, single submitter
Select item 111573497.	NM_174936.4(PCSK9):c.1686C>T (p.Cys562=) GRCh37: Chr1:55527052 GRCh38: Chr1:55061379	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Aug 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 110738598.	NM_174936.4(PCSK9):c.96G>A (p.Glu32=) GRCh37: Chr1:55505606 GRCh38: Chr1:55039933	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 13, 2019)	criteria provided, single submitter
Select item 110401799.	NM_174936.4(PCSK9):c.1011G>T (p.Gly337=) GRCh37: Chr1:55523018 GRCh38: Chr1:55057345	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 1103602100.	NM_174936.4(PCSK9):c.762C>T (p.Asn254=) GRCh37: Chr1:55518427 GRCh38: Chr1:55052754	PCSK9		Cardiovascular phenotype, not provided, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 5