C0020597[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297684	NM_174936.3(PCSK9):c.-346G>C	PCSK9	Single nucleotide variant	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 438331	NM_174936.3(PCSK9):c.-331C>A	PCSK9	Single nucleotide variant	Hypobetalipoproteinemia +3 more	GUncertain significance
Select item 265911	NM_174936.4(PCSK9):c.-287G>A	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +2 more	GBenign/Likely benign
Select item 297685	NM_174936.4(PCSK9):c.-245G>C	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 265912	NM_174936.4(PCSK9):c.-245G>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GConflicting classifications of pathogenicity
Select item 876359	NM_174936.4(PCSK9):c.-140C>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +1 more	GConflicting classifications of pathogenicity
Select item 874402	NM_174936.4(PCSK9):c.-68C>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 36666	NM_174936.4(PCSK9):c.-64C>T	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GBenign
Select item 297691	NM_174936.4(PCSK9):c.-26G>A	PCSK9	Single nucleotide variant (5 prime UTR variant)	Hypobetalipoproteinemia +1 more	GBenign/Likely benign
Select item 874403	NM_174936.4(PCSK9):c.85C>G (p.Arg29Gly)	PCSK9 (R29G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 536202	NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)	PCSK9 (E34K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GUncertain significance
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +6 more	GBenign/Likely benign
Select item 262902	NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	PCSK9	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 440708	NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)	PCSK9 (A53G)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +4 more	GUncertain significance
Select item 36669	NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)	PCSK9 (A53V)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 297693	NM_174936.4(PCSK9):c.168C>T (p.Pro56=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 876271	NM_174936.4(PCSK9):c.202G>A (p.Ala68Thr)	PCSK9 (A68T)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 262904	NM_174936.4(PCSK9):c.207+15A>G	PCSK9	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 413317	NM_174936.4(PCSK9):c.336G>A (p.Leu112=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GBenign/Likely benign
Select item 876393	NM_174936.4(PCSK9):c.378G>A (p.Met126Ile)	PCSK9 (M126I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 297694	NM_174936.4(PCSK9):c.399+4A>G	PCSK9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 633347	NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln)	PCSK9 (R160Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GUncertain significance
Select item 496560	NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)	PCSK9 (R167W)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 36671	NM_174936.4(PCSK9):c.524-11G>A	PCSK9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 496562	NM_174936.4(PCSK9):c.525C>T (p.Asp175=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	PCSK9-related condition +5 more	GBenign/Likely benign
Select item 875354	NM_174936.4(PCSK9):c.612C>T (p.Asp204=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 262906	NM_174936.4(PCSK9):c.657+9G>A	PCSK9	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 496564	NM_174936.4(PCSK9):c.658-9G>A	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GConflicting classifications of pathogenicity
Select item 36672	NM_174936.4(PCSK9):c.658-7C>T	PCSK9	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 265932	NM_174936.4(PCSK9):c.705C>T (p.Ser235=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 265933	NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	PCSK9 (R237W +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 242028	NM_174936.4(PCSK9):c.720C>T (p.Gly240=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 262907	NM_174936.4(PCSK9):c.753C>T (p.Arg251=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 876449	NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser)	PCSK9 (G263S +5 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +3 more	GConflicting classifications of pathogenicity
Select item 536208	NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile)	PCSK9 (T264I +5 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 262908	NM_174936.4(PCSK9):c.799+3A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 more	GBenign
Select item 536214	NM_174936.4(PCSK9):c.799+8A>G	PCSK9	Single nucleotide variant (intron variant)	Hypobetalipoproteinemia +2 more	GConflicting classifications of pathogenicity
Select item 297697	NM_174936.4(PCSK9):c.955C>T (p.Arg319Trp)	PCSK9 (R319W +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GUncertain significance
Select item 262899	NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 575758	NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)	PCSK9 (R357C +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 772622	NM_174936.4(PCSK9):c.1099G>C (p.Asp367His)	PCSK9 (D367H +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 874546	NM_174936.4(PCSK9):c.1206C>T (p.Ala402=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	PCSK9-related condition +5 more	GConflicting classifications of pathogenicity
Select item 413314	NM_174936.4(PCSK9):c.1227C>T (p.Ala409=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GConflicting classifications of pathogenicity
Select item 630597	NM_174936.4(PCSK9):c.1270A>G (p.Ile424Val)	PCSK9 (I424V +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GBenign/Likely benign
Select item 297699	NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)	PCSK9 (N425S +5 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +6 more	GConflicting classifications of pathogenicity
Select item 297701	NM_174936.4(PCSK9):c.1326C>T (p.Ala442=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 262900	NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)	PCSK9 (A443T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 297702	NM_174936.4(PCSK9):c.1332G>A (p.Leu444=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 876490	NM_174936.4(PCSK9):c.1338C>T (p.Pro446=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 413316	NM_174936.4(PCSK9):c.1354+9G>T	PCSK9	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 201126	NM_174936.4(PCSK9):c.1380A>G (p.Val460=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypobetalipoproteinemia +5 more	GBenign
Select item 801242	NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro)	PCSK9 (S462P +6 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 265944	NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)	PCSK9 (P467A +6 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 201128	NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)	PCSK9 (R469W +6 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +7 more	GConflicting classifications of pathogenicity
Select item 201124	NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)	PCSK9 (V474I +6 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +5 more	GBenign/Likely benign
Select item 413318	NM_174936.4(PCSK9):c.1431C>T (p.Cys477=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GBenign/Likely benign
Select item 201129	NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)	PCSK9 (R496W +6 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 874601	NM_174936.4(PCSK9):c.1515C>A (p.Gly505=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 431557	NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)	PCSK9 (G516V +7 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +4 more	GUncertain significance
Select item 630491	NM_174936.4(PCSK9):c.1560C>T (p.Val520=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GConflicting classifications of pathogenicity
Select item 431558	NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)	PCSK9 (Q554E +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 297703	NM_174936.4(PCSK9):c.1697G>C (p.Trp566Ser)	PCSK9 (W566S +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 876538	NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu)	PCSK9 (V578E +8 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +3 more	GConflicting classifications of pathogenicity
Select item 876539	NM_174936.4(PCSK9):c.1745G>A (p.Arg582Gln)	PCSK9 (R582Q +8 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 548105	NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr)	PCSK9 (A598T +8 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 548106	NM_174936.4(PCSK9):c.1864-13C>T	PCSK9	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 468295	NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypobetalipoproteinemia +5 more	GBenign/Likely benign
Select item 510674	NM_174936.4(PCSK9):c.1929C>T (p.His643=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 873657	NM_174936.4(PCSK9):c.1930G>A (p.Val644Ile)	PCSK9 (V644I +8 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +3 more	GUncertain significance
Select item 630172	NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 297704	NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp)	PCSK9 (N652D +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 297706	NM_174936.4(PCSK9):c.1978G>A (p.Asp660Asn)	PCSK9 (D660N +8 more)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +2 more	GUncertain significance
Select item 297707	NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly)	PCSK9 (S668G +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 297708	NM_174936.4(PCSK9):c.2005G>A (p.Glu669Lys)	PCSK9 (E669K +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 36670	NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)	PCSK9 (G670E +8 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 297709	NM_174936.4(PCSK9):c.2022C>T (p.Ala674=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 297710	NM_174936.4(PCSK9):c.*28G>A	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 265950	NM_174936.4(PCSK9):c.*75C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GConflicting classifications of pathogenicity
Select item 297714	NM_174936.4(PCSK9):c.*122C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297716	NM_174936.4(PCSK9):c.*171C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +2 more	GConflicting classifications of pathogenicity
Select item 873731	NM_174936.4(PCSK9):c.*179T>C	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 297717	NM_174936.4(PCSK9):c.*207G>A	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297718	NM_174936.4(PCSK9):c.*232C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GLikely benign
Select item 297719	NM_174936.4(PCSK9):c.*234C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GLikely benign
Select item 873732	NM_174936.4(PCSK9):c.*265C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GBenign/Likely benign
Select item 874691	NM_174936.4(PCSK9):c.*276C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GUncertain significance
Select item 297721	NM_174936.4(PCSK9):c.*345C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GBenign
Select item 874692	NM_174936.4(PCSK9):c.*368G>A	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297724	NM_174936.4(PCSK9):c.*414C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GBenign
Select item 297727	NM_174936.4(PCSK9):c.*444G>C	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, autosomal dominant, 3 +1 more	GBenign
Select item 297733	NM_174936.4(PCSK9):c.*548T>C	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297734	NM_174936.4(PCSK9):c.*571C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GBenign
Select item 297735	NM_174936.4(PCSK9):c.*614C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GBenign
Select item 876637	NM_174936.4(PCSK9):c.*666G>A	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297736	NM_174936.4(PCSK9):c.*759G>A	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297738	NM_174936.4(PCSK9):c.*803G>A	PCSK9	Single nucleotide variant (3 prime UTR variant)	PCSK9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 873786	NM_174936.4(PCSK9):c.*843G>A	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GLikely benign
Select item 297740	NM_174936.4(PCSK9):c.*849T>C	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GBenign
Select item 873787	NM_174936.4(PCSK9):c.*887C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +1 more	GUncertain significance
Select item 297742	NM_174936.4(PCSK9):c.*1052C>T	PCSK9	Single nucleotide variant (3 prime UTR variant)	Hypobetalipoproteinemia +2 more	GConflicting classifications of pathogenicity

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