ClinVar for PubMed (Select 30710474) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1120258	NM_000527.5(LDLR):c.1061-1G>T	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120249	NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs)	LDLR (S480fs +3 more)	Indel (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 523725	NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)	LDLR (D307G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 375810	NM_000527.5(LDLR):c.1187del	LDLR	Deletion (splice acceptor variant)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 265892	NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)	APOB (Y3560C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 252079	NM_000527.5(LDLR):c.1846-1G>A	LDLR	Single nucleotide variant (splice acceptor variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 251905	NM_000527.5(LDLR):c.1586+1G>A	LDLR	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 251897	NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly)	LDLR (R520G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251859	NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys)	LDLR (Y489C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251830	NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)	LDLR (Q306fs +3 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 251738	NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)	LDLR (N405K +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251736	NM_000527.5(LDLR):c.1211C>T (p.Thr404Ile)	LDLR (T404I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251731	NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del)	LDLR (F403del +3 more)	Microsatellite (inframe_deletion)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251685	NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)	LDLR (C379R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 251676	NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs)	LDLR (Y248fs +3 more)	Duplication (frameshift variant)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 251622	NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)	LDLR (C352W +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 251572	NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)	LDLR (C318F +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 251374	NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)	LDLR (D224G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251242	NM_000527.5(LDLR):c.465C>A (p.Cys155Ter)	LDLR (C155* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251214	NM_000527.5(LDLR):c.418G>T (p.Glu140Ter)	LDLR (E140* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251182	NM_000527.5(LDLR):c.369_370del (p.Arg124fs)	LDLR (R83fs +1 more)	Microsatellite (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251181	NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)	LDLR (S123P +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 226393	NM_000527.5(LDLR):c.2389G>A (p.Val797Met)	LDLR (V797M +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 226391	NM_000527.5(LDLR):c.2312-3C>A	LDLR	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 226371	NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)	LDLR (D579Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 201128	NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)	PCSK9 (R469W +6 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 183123	NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)	LDLR (R574C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 183106	NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	LDLR (G343S +3 more)	Single nucleotide variant (missense variant)	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 183092	NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	LDLR (D221G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 180402	NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)	LDLR (W490R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 161285	NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	LDLR (D492N +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3733	NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)	LDLR	Duplication (inframe_insertion +1 more)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 3702	NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	LDLR (P685L +2 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 3698	NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	LDLR (G549D +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 3696	NM_000527.5(LDLR):c.1567G>A (p.Val523Met)	LDLR (V523M +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 3690	NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 3683	NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)	LDLR (Q33*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database

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Items: 39