"Revvity Omics, Revvity"[submitter] AND "LDLRAP1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441156	NM_015627.3(LDLRAP1):c.1A>G (p.Met1Val)	LDLRAP1, LOC129929773 (M1V)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 4	GLikely pathogenic
Select item 947831	NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs)	LDLRAP1, LOC129929773 (G25fs)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic/Likely pathogenic
Select item 468290	NM_015627.3(LDLRAP1):c.71del (p.Gly24fs)	LDLRAP1, LOC129929773 (G24fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 4773	NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter)	LDLRAP1, LOC129929773 (W22*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2437212	NM_015627.3(LDLRAP1):c.66G>A (p.Trp22Ter)	LDLRAP1, LOC129929773 (W22*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 4779	NM_015627.3(LDLRAP1):c.89-1G>C	LDLRAP1	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 1373822	NM_015627.3(LDLRAP1):c.143del (p.Phe48fs)	LDLRAP1 (F48fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic/Likely pathogenic
Select item 2441145	NM_015627.3(LDLRAP1):c.231+1G>T	LDLRAP1	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 4	GLikely pathogenic
Select item 1324659	NM_015627.3(LDLRAP1):c.344+1G>A	LDLRAP1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 4775	NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter)	LDLRAP1 (Q136*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 662264	NM_015627.3(LDLRAP1):c.431dup (p.His144fs)	LDLRAP1 (H144fs)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 4 +1 more	GPathogenic
Select item 2441149	NM_015627.3(LDLRAP1):c.538_541del (p.Glu180fs)	LDLRAP1 (E180fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 4	GLikely pathogenic
Select item 4781	NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)	LDLRAP1 (S202fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2441153	NM_015627.3(LDLRAP1):c.617-2A>G	LDLRAP1	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 4	GLikely pathogenic