C0020445[trait identifier] AND "Rady Children's Institute for Genomic - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	APOB-Related Disorders +10 more	GPathogenic/Likely pathogenic
Select item 225097	NM_000527.5(LDLR):c.190+4A>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 183083	NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	LDLR (R81C)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 161266	NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	LDLR (E101K)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 200920	NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	LDLR (E240K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161287	NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	LDLR (D266E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 183105	NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	LDLR (G335S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226351	NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	LDLR (R406W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226379	NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	LDLR (R633C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GPathogenic/Likely pathogenic