"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3070727	NM_174936.4(PCSK9):c.-10C>T	PCSK9	Single nucleotide variant (5 prime UTR variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3070434	NM_174936.4(PCSK9):c.-8del	PCSK9	Deletion (5 prime UTR variant +1 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 265915	NM_174936.4(PCSK9):c.-8T>C	PCSK9	Single nucleotide variant (5 prime UTR variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
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 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 3071061	NM_174936.4(PCSK9):c.4G>A (p.Gly2Ser)	PCSK9 (G2S)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3069450	NM_174936.4(PCSK9):c.5G>A (p.Gly2Asp)	PCSK9 (G2D)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 3070392	NM_174936.4(PCSK9):c.8C>T (p.Thr3Ile)	PCSK9 (T3I)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 630657	NM_174936.4(PCSK9):c.9C>T (p.Thr3=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 628031	NM_174936.4(PCSK9):c.22C>T (p.Arg8Trp)	PCSK9 (R8W)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	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 696661	NM_174936.4(PCSK9):c.27C>G (p.Ser9=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 922275	NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr)	PCSK9 (P12T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 927406	NM_174936.4(PCSK9):c.35C>T (p.Pro12Leu)	PCSK9 (P12L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GConflicting classifications of pathogenicity
Select item 927682	NM_174936.4(PCSK9):c.36G>A (p.Pro12=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 922622	NM_174936.4(PCSK9):c.40C>T (p.Pro14Ser)	PCSK9 (P14S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	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 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 2774030	NM_174936.4(PCSK9):c.61_69dup (p.Leu23_Gly24insLeuLeuLeu)	PCSK9	Duplication (inframe_insertion +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 927084	NM_174936.4(PCSK9):c.65T>C (p.Leu22Pro)	PCSK9 (L22P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 630623	NM_174936.4(PCSK9):c.66C>T (p.Leu22=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GLikely benign
Select item 2774031	NM_174936.4(PCSK9):c.67_92del (p.Leu23fs)	PCSK9 (L23fs)	Deletion (frameshift variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 3071132	NM_174936.4(PCSK9):c.70G>T (p.Gly24Cys)	PCSK9 (G24C)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 927151	NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser)	PCSK9 (G24S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	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 923225	NM_174936.4(PCSK9):c.77C>T (p.Ala26Val)	PCSK9 (A26V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 1761130	NM_174936.4(PCSK9):c.78G>A (p.Ala26=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 920368	NM_174936.4(PCSK9):c.81C>T (p.Gly27=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 3071855	NM_174936.4(PCSK9):c.82G>A (p.Ala28Thr)	PCSK9 (A28T)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 2079911	NM_174936.4(PCSK9):c.86G>A (p.Arg29His)	PCSK9 (R29H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 297692	NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)	PCSK9 (E32K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
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 536202	NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)	PCSK9 (E34K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 375848	NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)	PCSK9 (D35Y)	Single nucleotide variant (missense variant)	PCSK9-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 921570	NM_174936.4(PCSK9):c.106G>A (p.Gly36Ser)	PCSK9 (G36S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 2570727	NM_174936.4(PCSK9):c.108C>T (p.Gly36=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GConflicting classifications of pathogenicity
Select item 1797190	NM_174936.4(PCSK9):c.111C>A (p.Asp37Glu)	PCSK9 (D37E)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 2561479	NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)	PCSK9 (L41Q)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 536213	NM_174936.4(PCSK9):c.126G>T (p.Val42=)	PCSK9	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	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 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 262902	NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 440707	NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys)	PCSK9 (E48K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2454168	NM_174936.4(PCSK9):c.147G>C (p.Glu49Asp)	PCSK9 (E49D)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 1139726	NM_174936.4(PCSK9):c.147G>A (p.Glu49=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
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 3069590	NM_174936.4(PCSK9):c.152G>A (p.Gly51Asp)	PCSK9 (G51D)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
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 1775235	NM_174936.4(PCSK9):c.155T>C (p.Leu52Pro)	PCSK9 (L52P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 440708	NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)	PCSK9 (A53G)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 36669	NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)	PCSK9 (A53V)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 3071520	NM_174936.4(PCSK9):c.160G>A (p.Glu54Lys)	PCSK9 (E54K)	Single nucleotide variant (missense variant +2 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 630139	NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser)	PCSK9 (P56S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	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 924602	NM_174936.4(PCSK9):c.168C>G (p.Pro56=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 3069268	NM_174936.4(PCSK9):c.174C>G (p.His58Gln)	PCSK9 (H58Q)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 1780553	NM_174936.4(PCSK9):c.180C>T (p.Thr60=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 1551504	NM_174936.4(PCSK9):c.186C>T (p.Ala62=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	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 923778	NM_174936.4(PCSK9):c.196C>T (p.Arg66Cys)	PCSK9 (R66C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 727658	NM_174936.4(PCSK9):c.198C>T (p.Arg66=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GLikely benign
Select item 919442	NM_174936.4(PCSK9):c.199T>C (p.Cys67Arg)	PCSK9 (C67R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 3070936	NM_174936.4(PCSK9):c.202del (p.Ala68fs)	PCSK9 (A68fs)	Deletion (frameshift variant +2 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 921573	NM_174936.4(PCSK9):c.208-14T>G	PCSK9	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 3069904	NM_174936.4(PCSK9):c.208-10A>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 631188	NM_174936.4(PCSK9):c.208-10A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GLikely benign
Select item 3069513	NM_174936.4(PCSK9):c.208-8G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 440711	NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)	PCSK9 (P71L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 630640	NM_174936.4(PCSK9):c.213G>A (p.Pro71=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 921574	NM_174936.4(PCSK9):c.219G>T (p.Arg73Ser)	PCSK9 (R73S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 468296	NM_174936.4(PCSK9):c.225T>C (p.Pro75=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GBenign/Likely benign
Select item 633348	NM_174936.4(PCSK9):c.228C>T (p.Gly76=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GLikely benign
Select item 921575	NM_174936.4(PCSK9):c.234C>T (p.Tyr78=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1790140	NM_174936.4(PCSK9):c.235G>A (p.Val79Met)	PCSK9 (V120M +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 1192251	NM_174936.4(PCSK9):c.240G>A (p.Val80=)	PCSK9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 921577	NM_174936.4(PCSK9):c.253G>A (p.Glu85Lys)	PCSK9 (E85K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 375842	NM_174936.4(PCSK9):c.266C>T (p.Ser89Leu)	PCSK9 (S89L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 627675	NM_174936.4(PCSK9):c.267G>A (p.Ser89=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 518317	NM_174936.4(PCSK9):c.276G>A (p.Glu92=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 413319	NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)	PCSK9 (R93C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 925285	NM_174936.4(PCSK9):c.278G>A (p.Arg93His)	PCSK9 (R93H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2880	NM_174936.4(PCSK9):c.287GCC[1] (p.Arg97del)	PCSK9 (R97del)	Microsatellite (inframe_deletion)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign
Select item 440714	NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)	PCSK9 (R96C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 848359	NM_174936.4(PCSK9):c.287G>A (p.Arg96His)	PCSK9 (R96H)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 927833	NM_174936.4(PCSK9):c.289C>T (p.Arg97Cys)	PCSK9 (R97C)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 468297	NM_174936.4(PCSK9):c.290G>A (p.Arg97His)	PCSK9 (R97H)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 3072286	NM_174936.4(PCSK9):c.295C>T (p.Gln99Ter)	PCSK9 (Q140* +1 more)	Single nucleotide variant (nonsense +3 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 925286	NM_174936.4(PCSK9):c.298G>A (p.Ala100Thr)	PCSK9 (A100T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 1172036	NM_174936.4(PCSK9):c.311G>A (p.Arg104His)	PCSK9 (R104H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 630142	NM_174936.4(PCSK9):c.313C>T (p.Arg105Trp)	PCSK9 (R105W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 548107	NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln)	PCSK9 (R105Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GUncertain significance
Select item 1324866	NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg)	PCSK9 (G106R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3	GConflicting classifications of pathogenicity
Select item 3071446	NM_174936.4(PCSK9):c.335T>C (p.Leu112Pro)	PCSK9 (L112P +1 more)	Single nucleotide variant (missense variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 924709	NM_174936.4(PCSK9):c.335T>G (p.Leu112Arg)	PCSK9 (L112R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 413317	NM_174936.4(PCSK9):c.336G>A (p.Leu112=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 3070631	NM_174936.4(PCSK9):c.338A>G (p.His113Arg)	PCSK9 (H113R +1 more)	Single nucleotide variant (missense variant +3 more)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 1077314	NM_174936.4(PCSK9):c.348T>C (p.His116=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3	GLikely benign

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