ClinVar for Gene (Select 255738) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339859	NM_174936.4(PCSK9):c.923G>C (p.Gly308Ala)	PCSK9 (G183A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339292	NM_174936.4(PCSK9):c.1181-3del	PCSK9	Deletion (intron variant)	not specified	GUncertain significance
Select item 3336928	NM_174936.4(PCSK9):c.290G>T (p.Arg97Leu)	PCSK9 (R138L +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3305273	NM_174936.4(PCSK9):c.364T>A (p.Phe122Ile)	PCSK9 (F122I +1 more)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype	GUncertain significance
Select item 3305272	NM_174936.4(PCSK9):c.864C>G (p.Pro288=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3305271	NM_174936.4(PCSK9):c.975C>T (p.Tyr325=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3305270	NM_174936.4(PCSK9):c.2064C>G (p.Ser688=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3305269	NM_174936.4(PCSK9):c.922G>T (p.Gly308Trp)	PCSK9 (G309W +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3305267	NM_174936.4(PCSK9):c.1998C>T (p.Ser666=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3305266	NM_174936.4(PCSK9):c.842G>C (p.Gly281Ala)	PCSK9 (G262A +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3251784	NM_174936.4(PCSK9):c.1503+19_1503+32del	PCSK9	Deletion (intron variant)	not specified	GLikely benign
Select item 3248022	NC_000001.10:g.(?_55464860)_(55505737_?)del	BSND, PCSK9	Deletion	not provided	GPathogenic
Select item 3229300	NM_174936.4(PCSK9):c.925G>T (p.Val309Phe)	PCSK9 (V184F +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229299	NM_174936.4(PCSK9):c.489T>A (p.Pro163=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3229298	NM_174936.4(PCSK9):c.476_477del (p.Glu159fs)	PCSK9 (E140fs +4 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3229297	NM_174936.4(PCSK9):c.430G>C (p.Glu144Gln)	PCSK9 (E144Q +3 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229296	NM_174936.4(PCSK9):c.-3C>G	PCSK9	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229295	NM_174936.4(PCSK9):c.300C>T (p.Ala100=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Cardiovascular phenotype	GLikely benign
Select item 3229294	NM_174936.4(PCSK9):c.140C>T (p.Ser47Phe)	PCSK9 (S47F)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229293	NM_174936.4(PCSK9):c.1321G>T (p.Val441Leu)	PCSK9 (V316L +5 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3229292	NM_174936.4(PCSK9):c.1129A>C (p.Thr377Pro)	PCSK9 (T252P +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3075564	NM_174936.4(PCSK9):c.1660C>T (p.Gln554Ter)	PCSK9 (Q429* +7 more)	Single nucleotide variant (nonsense +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075555	NM_174936.4(PCSK9):c.1378del (p.Val460fs)	PCSK9 (V335fs +6 more)	Deletion (frameshift variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075554	NM_174936.4(PCSK9):c.1314del (p.Asn439fs)	PCSK9 (N314fs +5 more)	Deletion (frameshift variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075546	NM_174936.4(PCSK9):c.747C>G (p.Ser249Arg)	PCSK9 (S124R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075526	NM_174936.4(PCSK9):c.367C>T (p.Leu123=)	PCSK9	Single nucleotide variant (synonymous variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075524	NM_174936.4(PCSK9):c.89_92dup (p.Gln31fs)	PCSK9 (Q31fs)	Duplication (frameshift variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075492	NM_174936.4(PCSK9):c.802C>T (p.Leu268=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075481	NM_174936.4(PCSK9):c.53T>G (p.Leu18Arg)	PCSK9 (L18R)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075433	NM_174936.4(PCSK9):c.670G>A (p.Asp224Asn)	PCSK9 (D160N +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075405	NM_174936.4(PCSK9):c.75del (p.Ala26fs)	PCSK9 (A26fs)	Deletion (frameshift variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075394	NM_174936.4(PCSK9):c.991C>T (p.Pro331Ser)	PCSK9 (P206S +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075370	NM_174936.4(PCSK9):c.370G>A (p.Val124Met)	PCSK9 (V124M +1 more)	Single nucleotide variant (missense variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075355	NM_174936.4(PCSK9):c.821G>A (p.Ser274Asn)	PCSK9 (S149N +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075301	NM_174936.4(PCSK9):c.524A>T (p.Asp175Val)	PCSK9 (D111V +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075290	NM_174936.4(PCSK9):c.429C>G (p.Ile143Met)	PCSK9 (I143M +3 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075209	NM_174936.4(PCSK9):c.799+5G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075112	NM_174936.4(PCSK9):c.1443G>A (p.Glu481=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3075107	NM_174936.4(PCSK9):c.1930G>T (p.Val644Phe)	PCSK9 (V685F +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075106	NM_174936.4(PCSK9):c.656A>G (p.Gln219Arg)	PCSK9 (Q155R +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075102	NM_174936.4(PCSK9):c.1048A>T (p.Thr350Ser)	PCSK9 (T225S +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075070	NM_174936.4(PCSK9):c.872G>A (p.Gly291Asp)	PCSK9 (G166D +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3075045	NM_174936.4(PCSK9):c.960C>A (p.Asp320Glu)	PCSK9 (D195E +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 3075028	NM_174936.4(PCSK9):c.1764C>A (p.Cys588Ter)	PCSK9 (C421* +8 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3074993	NM_174936.4(PCSK9):c.641C>A (p.Thr214Asn)	PCSK9 (T150N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074937	NM_174936.4(PCSK9):c.1582C>T (p.Leu528=)	PCSK9	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3074854	NM_174936.4(PCSK9):c.1925C>T (p.Ser642Phe)	PCSK9 (S475F +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074850	NM_174936.4(PCSK9):c.-4C>A	PCSK9	Single nucleotide variant (5 prime UTR variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074783	NM_174936.4(PCSK9):c.1863G>A (p.Gln621=)	PCSK9	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074758	NM_174936.4(PCSK9):c.1947C>A (p.Ala649=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3074716	NM_174936.4(PCSK9):c.2058G>A (p.Gln686=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3074653	NM_174936.4(PCSK9):c.1657C>G (p.His553Asp)	PCSK9 (H428D +7 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074625	NM_174936.4(PCSK9):c.588C>G (p.Ile196Met)	PCSK9 (I132M +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074590	NM_174936.4(PCSK9):c.356T>C (p.Leu119Pro)	PCSK9 (L119P +1 more)	Single nucleotide variant (missense variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074530	NM_174936.4(PCSK9):c.1864-13del	PCSK9	Deletion (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074488	NM_174936.4(PCSK9):c.523G>T (p.Asp175Tyr)	PCSK9 (D111Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074453	NM_174936.4(PCSK9):c.-7G>A	PCSK9	Single nucleotide variant (5 prime UTR variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074343	NM_174936.4(PCSK9):c.96G>C (p.Glu32Asp)	PCSK9 (E32D)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074272	NM_174936.4(PCSK9):c.1062C>T (p.Asn354=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3074245	NM_174936.4(PCSK9):c.1989_2000del (p.Thr664_Thr667del)	PCSK9	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074164	NM_174936.4(PCSK9):c.168C>A (p.Pro56=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3074128	NM_174936.4(PCSK9):c.462C>A (p.Ile154=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3074115	NM_174936.4(PCSK9):c.940G>C (p.Ala314Pro)	PCSK9 (A189P +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074025	NM_174936.4(PCSK9):c.42_43insATGCTG (p.Pro14_Leu15insMetLeu)	PCSK9	Insertion (inframe_insertion +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3074018	NM_174936.4(PCSK9):c.754G>T (p.Val252Leu)	PCSK9 (V127L +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073993	NM_174936.4(PCSK9):c.136C>A (p.Arg46Ser)	PCSK9 (R46S)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073980	NM_174936.4(PCSK9):c.986C>T (p.Ser329Leu)	PCSK9 (S204L +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073952	NM_174936.4(PCSK9):c.148G>C (p.Asp50His)	PCSK9 (D50H)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073926	NM_174936.4(PCSK9):c.1778_1781del (p.Glu593fs)	PCSK9 (E426fs +8 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073810	NM_174936.4(PCSK9):c.928G>T (p.Val310Leu)	PCSK9 (V185L +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073786	NM_174936.4(PCSK9):c.1781C>A (p.Ala594Asp)	PCSK9 (A427D +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073785	NM_174936.4(PCSK9):c.164C>A (p.Ala55Glu)	PCSK9 (A55E)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073715	NM_174936.4(PCSK9):c.1081C>T (p.Leu361Phe)	PCSK9 (L236F +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073700	NM_174936.4(PCSK9):c.953T>A (p.Phe318Tyr)	PCSK9 (F193Y +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073640	NM_174936.4(PCSK9):c.1377T>C (p.Thr459=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3073578	NM_174936.4(PCSK9):c.1147dup (p.Ser383fs)	PCSK9 (S258fs +5 more)	Duplication (frameshift variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3073470	NM_174936.4(PCSK9):c.1310C>T (p.Thr437Ile)	PCSK9 (T312I +5 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073454	NM_174936.4(PCSK9):c.581G>C (p.Arg194Pro)	PCSK9 (R130P +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073434	NM_174936.4(PCSK9):c.1653C>G (p.His551Gln)	PCSK9 (H426Q +7 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073430	NM_174936.4(PCSK9):c.579C>A (p.His193Gln)	PCSK9 (H129Q +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073341	NM_174936.4(PCSK9):c.522C>A (p.Pro174=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073291	NM_174936.4(PCSK9):c.1848G>T (p.Pro616=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073254	NM_174936.4(PCSK9):c.731G>A (p.Gly244Asp)	PCSK9 (G119D +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073192	NM_174936.4(PCSK9):c.1455C>T (p.Ser485=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3073130	NM_174936.4(PCSK9):c.1201T>A (p.Ser401Thr)	PCSK9 (S276T +5 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073100	NM_174936.4(PCSK9):c.1355G>A (p.Gly452Asp)	PCSK9 (G327D +6 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073098	NM_174936.4(PCSK9):c.274G>C (p.Glu92Gln)	PCSK9 (E133Q +1 more)	Single nucleotide variant (missense variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3073054	NM_174936.4(PCSK9):c.547dup (p.Tyr183fs)	PCSK9 (Y119fs +4 more)	Duplication (frameshift variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3072979	NM_174936.4(PCSK9):c.454C>G (p.Gln152Glu)	PCSK9 (Q152E +3 more)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3072951	NM_174936.4(PCSK9):c.1054G>A (p.Gly352Arg)	PCSK9 (G227R +5 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3072928	NM_174936.4(PCSK9):c.502G>T (p.Ala168Ser)	PCSK9 (A104S +4 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3072920	NM_174936.4(PCSK9):c.1975C>G (p.Arg659Gly)	PCSK9 (R492G +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3072914	NM_174936.4(PCSK9):c.1937G>A (p.Gly646Glu)	PCSK9 (G479E +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3072913	NM_174936.4(PCSK9):c.953del (p.Phe318fs)	PCSK9 (F193fs +5 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3072911	NM_174936.4(PCSK9):c.188C>A (p.Thr63Asn)	PCSK9 (T63N)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3072868	NM_174936.4(PCSK9):c.696G>A (p.Gly232=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3072800	NM_174936.4(PCSK9):c.1961_1964dup (p.Val656fs)	PCSK9 (V489fs +8 more)	Microsatellite (frameshift variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 3072778	NM_174936.4(PCSK9):c.546G>T (p.Val182=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3072686	NM_174936.4(PCSK9):c.1964T>G (p.Val655Gly)	PCSK9 (V488G +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3072653	NM_174936.4(PCSK9):c.1810C>T (p.Pro604Ser)	PCSK9 (P437S +8 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance

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