"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LDLRAP1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296968	NM_015627.3(LDLRAP1):c.-68G>A	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 581619	NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val)	LDLRAP1, LOC129929773 (I12V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 4779	NM_015627.3(LDLRAP1):c.89-1G>C	LDLRAP1	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 817252	NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs)	LDLRAP1 (T38fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 965092	NM_015627.3(LDLRAP1):c.113C>T (p.Thr38Met)	LDLRAP1 (T38M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1153168	NM_015627.3(LDLRAP1):c.114G>A (p.Thr38=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 696641	NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 646841	NM_015627.3(LDLRAP1):c.122C>T (p.Thr41Met)	LDLRAP1 (T41M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 1505845	NM_015627.3(LDLRAP1):c.205G>A (p.Ala69Thr)	LDLRAP1 (A69T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 296979	NM_015627.3(LDLRAP1):c.451C>T (p.Arg151Trp)	LDLRAP1 (R151W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 684845	NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln)	LDLRAP1 (R151Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +3 more	GUncertain significance
Select item 4781	NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)	LDLRAP1 (S202fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 241063	NM_015627.3(LDLRAP1):c.604_605delinsCA (p.Ser202His)	LDLRAP1 (S202H)	Indel (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 296983	NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr)	LDLRAP1 (A208T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 468288	NM_015627.3(LDLRAP1):c.626C>T (p.Thr209Ile)	LDLRAP1 (T209I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 1090381	NM_015627.3(LDLRAP1):c.801A>G (p.Thr267=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4 +1 more	GLikely benign
Select item 570480	NM_015627.3(LDLRAP1):c.842T>C (p.Met281Thr)	LDLRAP1 (M281T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 1677169	NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr)	LDLRAP1 (A284T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 296988	NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)	LDLRAP1 (D303N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 875212	NM_015627.3(LDLRAP1):c.*430G>T	LDLRAP1	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance
Select item 296994	NM_015627.3(LDLRAP1):c.*478C>T	LDLRAP1	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, familial, 4	GUncertain significance

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Items: 24