"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265916	NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 235043	NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	not specified +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 +6 more	GConflicting classifications of pathogenicity
Select item 36669	NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)	PCSK9 (A53V)	Single nucleotide variant (missense variant)	Hypobetalipoproteinemia +6 more	GBenign/Likely benign
Select item 262904	NM_174936.4(PCSK9):c.207+15A>G	PCSK9	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 496562	NM_174936.4(PCSK9):c.525C>T (p.Asp175=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 36672	NM_174936.4(PCSK9):c.658-7C>T	PCSK9	Single nucleotide variant (intron variant)	Hypobetalipoproteinemia +5 more	GBenign
Select item 265932	NM_174936.4(PCSK9):c.705C>T (p.Ser235=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypobetalipoproteinemia +5 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)	Hypobetalipoproteinemia +6 more	GConflicting classifications of pathogenicity
Select item 262899	NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	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 specified +6 more	GBenign/Likely benign
Select item 413316	NM_174936.4(PCSK9):c.1354+9G>T	PCSK9	Single nucleotide variant (intron variant)	not provided +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)	Cardiovascular phenotype +6 more	GBenign
Select item 201124	NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)	PCSK9 (V474I +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 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)	See cases +7 more	GConflicting classifications of pathogenicity
Select item 413315	NM_174936.4(PCSK9):c.1491C>T (p.Gly497=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GBenign/Likely benign
Select item 928570	NM_174936.4(PCSK9):c.1503+20GT[27]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +2 more	GBenign/Likely benign
Select item 492237	NM_174936.4(PCSK9):c.1503+20GT[19]	PCSK9	Microsatellite (intron variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 492236	NM_174936.4(PCSK9):c.1503+20GT[18]	PCSK9	Microsatellite (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GBenign/Likely benign
Select item 536204	NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 468295	NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)	PCSK9	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 36670	NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)	PCSK9 (G670E +8 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24