C0745103[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1442875	NM_000163.5(GHR):c.784+6A>G	GHR	Single nucleotide variant (intron variant)	Laron-type isolated somatotropin defect +2 more	GConflicting classifications of pathogenicity
Select item 3736	NM_000527.4(LDLR):c.313+1G>A	LDLR (R191H)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3726	NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	LDLR (D175N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 251510	NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)	LDLR (R300G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 36450	NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	LDLR (C352Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226349	NM_000527.5(LDLR):c.1187-10G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 375810	NM_000527.5(LDLR):c.1187del	LDLR	Deletion (splice acceptor variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 183109	NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	LDLR (A399T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 3694	NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	LDLR (V429M +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 252093	NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala)	LDLR (D622A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 183128	NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	LDLR (D651N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 252163	NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)	LDLR (C667R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 252330	NM_000527.5(LDLR):c.2416dup (p.Val806fs)	LDLR (V806fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database