ClinVar (all) for Orgtrack (Select 508316) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498273	NM_174936.4(PCSK9):c.487C>T (p.Pro163Ser)	PCSK9 (P144S +4 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 2498272	NM_174936.4(PCSK9):c.65_66insGCC (p.Leu22_Leu23insPro)	PCSK9	Insertion (inframe_insertion +2 more)	Familial hypercholesterolemia	GUncertain significance
Select item 2412589	NM_000384.3(APOB):c.6047A>G (p.Asp2016Gly)	APOB (D2016G)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2412588	NC_000019.10:g.11136960G>T	LDLR	Single nucleotide variant	Familial hypercholesterolemia	GUncertain significance
Select item 2412587	NM_000527.5(LDLR):c.*2098C>G	LDLR	Single nucleotide variant (3 prime UTR variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2412586	NM_000041.4(APOE):c.237-4G>T	APOE	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GUncertain significance
Select item 1895431	NM_000527.5(LDLR):c.1060+133C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GUncertain significance
Select item 1895430	NM_000384.3(APOB):c.6592A>G (p.Ile2198Val)	APOB (I2198V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 1809781	NM_000527.5(LDLR):c.281A>T (p.Asp94Val)	LDLR (D180V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GLikely pathogenic
Select item 1809710	NM_000384.3(APOB):c.5516T>C (p.Ile1839Thr)	APOB (I1839T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 1693162	NM_020812.4(DOCK6):c.3895-48_3895-47del	DOCK6, DOCK6-AS1	Deletion (intron variant)	Hypercholanemia, familial 1	GLikely pathogenic
Select item 440589	NM_000527.5(LDLR):c.658_663del (p.Pro220_Asp221del)	LDLR	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic