ClinVar for OMIM (Select 603776) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021413	NM_174936.4(PCSK9):c.720C>A (p.Gly240=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3017083	NM_174936.4(PCSK9):c.1716C>T (p.Gly572=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3016201	NM_174936.4(PCSK9):c.154C>T (p.Leu52=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3009257	NM_174936.4(PCSK9):c.150C>T (p.Asp50=)	PCSK9	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2997880	NM_174936.4(PCSK9):c.399+18G>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2997444	NM_174936.4(PCSK9):c.1863+11C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2986239	NM_174936.4(PCSK9):c.555A>G (p.Leu185=)	PCSK9	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2978779	NM_174936.4(PCSK9):c.1416A>G (p.Thr472=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2975856	NM_174936.4(PCSK9):c.400-13C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2971821	NM_174936.4(PCSK9):c.1134C>T (p.Cys378=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2968654	NM_174936.4(PCSK9):c.396G>A (p.Glu132=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2967415	NM_174936.4(PCSK9):c.800-17G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2916480	NM_174936.4(PCSK9):c.657+12C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2915586	NM_174936.4(PCSK9):c.1681+18C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2914515	NM_174936.4(PCSK9):c.1433C>T (p.Ala478Val)	PCSK9 (A478V +6 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2909331	NM_174936.4(PCSK9):c.523+16G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2907114	NM_174936.4(PCSK9):c.1180+8A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2905955	NM_174936.4(PCSK9):c.658-11T>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2905809	NM_174936.4(PCSK9):c.23G>A (p.Arg8Gln)	PCSK9 (R8Q)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2902371	NM_174936.4(PCSK9):c.424T>C (p.Tyr142His)	PCSK9 (Y183H +3 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2890101	NM_174936.4(PCSK9):c.799+11G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2884120	NM_174936.4(PCSK9):c.399+11del	PCSK9	Deletion (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2883790	NM_174936.4(PCSK9):c.369G>A (p.Leu123=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2879445	NM_174936.4(PCSK9):c.2037C>T (p.Cys679=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2870398	NM_174936.4(PCSK9):c.12C>T (p.Val4=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2865769	NM_174936.4(PCSK9):c.120G>A (p.Glu40=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2859698	NM_174936.4(PCSK9):c.1503+20GT[13]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2857353	NM_174936.4(PCSK9):c.1297C>T (p.Gln433Ter)	PCSK9 (Q308* +5 more)	Single nucleotide variant (nonsense +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2844345	NM_174936.4(PCSK9):c.196C>A (p.Arg66Ser)	PCSK9 (R66S)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2837755	NM_174936.4(PCSK9):c.456G>C (p.Gln152His)	PCSK9 (Q152H +3 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2829837	NM_174936.4(PCSK9):c.207+15A>T	PCSK9	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2828865	NM_174936.4(PCSK9):c.1503+7G>C	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2811468	NM_174936.4(PCSK9):c.309C>T (p.Ala103=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2811128	NM_174936.4(PCSK9):c.984C>T (p.Ala328=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2803237	NM_174936.4(PCSK9):c.653G>A (p.Arg218Lys)	PCSK9 (R154K +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2796785	NM_174936.4(PCSK9):c.399+11C>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2795345	NM_174936.4(PCSK9):c.1809C>G (p.Ala603=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2788990	NM_174936.4(PCSK9):c.819A>C (p.Lys273Asn)	PCSK9 (K209N +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2780955	NM_174936.4(PCSK9):c.195C>T (p.His65=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2774049	NM_174936.4(PCSK9):c.996+4G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 2772056	NM_174936.4(PCSK9):c.2016G>C (p.Val672=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2767943	NM_174936.4(PCSK9):c.2004C>T (p.Ser668=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2767135	NM_174936.4(PCSK9):c.1848G>C (p.Pro616=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2766719	NM_174936.4(PCSK9):c.1863+13G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2764217	NM_174936.4(PCSK9):c.106_111dup (p.Asp37_Tyr38insGlyAsp)	PCSK9	Duplication (inframe_insertion +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2761014	NM_174936.4(PCSK9):c.1863+13G>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2760523	NM_174936.4(PCSK9):c.799+20G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GBenign
Select item 2758749	NM_174936.4(PCSK9):c.113A>G (p.Tyr38Cys)	PCSK9 (Y38C)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2749428	NM_174936.4(PCSK9):c.1181-2A>G	PCSK9	Single nucleotide variant (splice acceptor variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2745516	NM_174936.4(PCSK9):c.1864-14T>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2739339	NM_174936.4(PCSK9):c.2054C>T (p.Ala685Val)	PCSK9 (A627V +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2733899	NM_174936.4(PCSK9):c.957G>A (p.Arg319=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2733636	NM_174936.4(PCSK9):c.1180+16A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2732767	NM_174936.4(PCSK9):c.1902C>G (p.Gly634=)	PCSK9	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2731495	NM_174936.4(PCSK9):c.657+18A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2728768	NM_174936.4(PCSK9):c.1824C>T (p.Cys608=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2726559	NM_174936.4(PCSK9):c.75C>T (p.Pro25=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2724851	NM_174936.4(PCSK9):c.997-16C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2722333	NM_174936.4(PCSK9):c.599T>C (p.Val200Ala)	PCSK9 (V136A +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2718206	NM_174936.4(PCSK9):c.315G>A (p.Arg105=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2706724	NM_174936.4(PCSK9):c.1503+16C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2704736	NM_174936.4(PCSK9):c.524-18A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2701835	NM_174936.4(PCSK9):c.1699G>A (p.Glu567Lys)	PCSK9 (E400K +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2698817	NM_174936.4(PCSK9):c.411G>A (p.Leu137=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 2694737	NM_174936.4(PCSK9):c.187A>G (p.Thr63Ala)	PCSK9 (T63A)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2693165	NM_174936.4(PCSK9):c.1731T>C (p.Pro577=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2625020	NM_174936.4(PCSK9):c.1695C>G (p.His565Gln)	PCSK9 (H546Q +8 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2583141	NM_174936.4(PCSK9):c.2069A>T (p.Glu690Val)	PCSK9 (E523V +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2581589	NM_174936.4(PCSK9):c.524-13T>A	PCSK9	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2581548	NM_174936.4(PCSK9):c.399+6C>A	PCSK9	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 2561479	NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)	PCSK9 (L41Q)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2497756	NM_174936.4(PCSK9):c.523+1G>A	PCSK9	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GConflicting classifications of pathogenicity
Select item 2427532	NC_000001.10:g.(?_55505511)_(55505737_?)dup	PCSK9	Duplication	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2418130	NM_174936.4(PCSK9):c.1394C>G (p.Ser465Trp)	PCSK9 (S340W +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely pathogenic
Select item 2201494	NM_174936.4(PCSK9):c.114C>T (p.Tyr38=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2201023	NM_174936.4(PCSK9):c.810T>C (p.Phe270=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2199028	NM_174936.4(PCSK9):c.799+15C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2196565	NM_174936.4(PCSK9):c.207+14_207+15delinsAG	PCSK9	Indel (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2191542	NM_174936.4(PCSK9):c.1180+19G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2161287	NM_174936.4(PCSK9):c.523+9C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2155628	NM_174936.4(PCSK9):c.207+9G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2151070	NM_174936.4(PCSK9):c.436G>A (p.Asp146Asn)	PCSK9 (D21N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 2150041	NM_174936.4(PCSK9):c.1503+20GT[31]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2149481	NM_174936.4(PCSK9):c.995A>G (p.Glu332Gly)	PCSK9 (E333G +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2143104	NM_174936.4(PCSK9):c.285C>T (p.Ala95=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2129569	NM_174936.4(PCSK9):c.1560C>A (p.Val520=)	PCSK9	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2079911	NM_174936.4(PCSK9):c.86G>A (p.Arg29His)	PCSK9 (R29H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2070508	NM_174936.4(PCSK9):c.441C>T (p.Ser147=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2050974	NM_174936.4(PCSK9):c.1681+19C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2048752	NM_174936.4(PCSK9):c.189del (p.Phe64fs)	PCSK9 (F64fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2044426	NM_174936.4(PCSK9):c.399+10C>G	PCSK9	Single nucleotide variant (intron variant)	PCSK9-related condition +1 more	GLikely benign
Select item 2040665	NM_174936.4(PCSK9):c.915G>A (p.Ala305=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2037422	NM_174936.4(PCSK9):c.618G>A (p.Glu206=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2031915	NM_174936.4(PCSK9):c.65_66insGCTCCT (p.Leu23_Gly24insLeuLeu)	PCSK9	Insertion (inframe_indel +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2029860	NM_174936.4(PCSK9):c.135G>A (p.Leu45=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2027927	NM_174936.4(PCSK9):c.381T>G (p.Ser127Arg)	PCSK9 (S168R +2 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GPathogenic
Select item 2020848	NM_174936.4(PCSK9):c.1682-5C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 2011414	NM_174936.4(PCSK9):c.2059G>C (p.Ala687Pro)	PCSK9 (A562P +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2001351	NM_174936.4(PCSK9):c.1311C>A (p.Thr437=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 1995630	NM_174936.4(PCSK9):c.1519C>T (p.Leu507=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign

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