"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LDLR"[gene - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 250942	NM_000527.4(LDLR):c.-156C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161272	NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	LDLR, LDLR-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 226304	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	LDLR (C27W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3685	NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	LDLR (W87G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251100	NM_000527.5(LDLR):c.261G>A (p.Trp87Ter)	LDLR (W87*)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 189296	NM_000527.5(LDLR):c.313+2T>C	LDLR	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251156	NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)	LDLR (C109R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 237872	NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	LDLR (E113K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 2498754	NM_000527.5(LDLR):c.382del (p.Cys128fs)	LDLR (C128fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 924265	NM_000527.5(LDLR):c.399C>T (p.Asp133=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia +3 more	GLikely benign
Select item 183087	NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)	LDLR (G137S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 251213	NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)	LDLR (E140K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251216	NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	LDLR (E140D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 251239	NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)	LDLR (C155G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 251252	NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)	LDLR (L164P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 36464	NM_000527.5(LDLR):c.507C>T (p.Asn169=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 226327	NM_000527.5(LDLR):c.564C>T (p.Tyr188=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 226329	NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	LDLR (G219del +1 more)	Microsatellite (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 440590	NM_000527.5(LDLR):c.660C>T (p.Pro220=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
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 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 251393	NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)	LDLR (E228Q +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 2498755	NM_000527.5(LDLR):c.694+4T>G	LDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 183098	NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	LDLR (F282L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 440609	NM_000527.5(LDLR):c.858C>T (p.Ser286=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 251488	NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	LDLR (S286R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251498	NM_000527.5(LDLR):c.880A>G (p.Lys294Glu)	LDLR (K294E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely 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 226337	NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	LDLR (S306L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 251543	NM_000527.5(LDLR):c.940+2T>A	LDLR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 251548	NM_000527.5(LDLR):c.941-39C>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 403665	NM_000527.5(LDLR):c.981C>A (p.His327Gln)	LDLR (H327Q +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 753703	NM_000527.5(LDLR):c.1038G>A (p.Leu346=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +4 more	GLikely benign
Select item 808450	NM_000527.5(LDLR):c.1047G>A (p.Gln349=)	LDLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 36451	NM_000527.5(LDLR):c.1061-8T>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 1711462	NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala)	LDLR (G228A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224620	NM_000527.5(LDLR):c.1194C>T (p.Ile398=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign 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 3694	NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	LDLR (V429M +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 251792	NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)	LDLR (W443C +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 633286	NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)	LDLR (D472N +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 161285	NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	LDLR (D492N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 251891	NM_000527.5(LDLR):c.1545C>T (p.Asn515=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 251895	NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg)	LDLR (K518R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226363	NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	LDLR (A540T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3698	NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	LDLR (G549D +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 523852	NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter)	LDLR (Y553* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 430782	NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe)	LDLR (I560F +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 226365	NM_000527.4(LDLR):c.1690A>C (p.Asn564His)	LDLR (N564H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 226368	NM_000527.5(LDLR):c.1706-10G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
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 251996	NM_000527.5(LDLR):c.1721G>A (p.Arg574His)	LDLR (R574H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 375821	NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)	LDLR (W577* +3 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
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 252028	NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs)	LDLR (R468fs +3 more)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 224618	NM_000527.5(LDLR):c.1836C>T (p.Ala612=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 226380	NM_000527.5(LDLR):c.1898G>A (p.Arg633His)	LDLR (R633H +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 200922	NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)	LDLR (V639D +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 237869	NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
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 237866	NM_000527.5(LDLR):c.1974C>T (p.Leu658=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 252142	NM_000527.5(LDLR):c.1977C>A (p.Thr659=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign/Likely benign
Select item 252174	NM_000527.5(LDLR):c.2025C>T (p.Gly675=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1640271	NM_000527.5(LDLR):c.2052C>T (p.Ala684=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 3702	NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	LDLR (P685L +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 252221	NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu)	LDLR (D700E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 1701351	NM_000527.5(LDLR):c.2139A>G (p.Thr713=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic
Select item 36460	NM_000527.5(LDLR):c.2140+5G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 36461	NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)	LDLR (T726I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 68104	NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)	LDLR (R744Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 252309	NM_000527.5(LDLR):c.2389+23G>A	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 226394	NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)	LDLR	Deletion (inframe_deletion)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 252335	NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter)	LDLR (W810* +3 more)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 161278	NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)	LDLR (R814Q +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 526758	NM_000527.5(LDLR):c.2478C>T (p.Pro826=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +3 more	GLikely benign
Select item 36462	NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	LDLR (V827I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 921263	NM_000527.5(LDLR):c.2574C>T (p.Asp858=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +3 more	GLikely benign
Select item 808454	NM_000527.5(LDLR):c.2580G>A (p.Ala860=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2578842	GRCh37/hg19 19p13.2(chr19:11210899-11222315)x3	LDLR	Copy number gain	not provided	GPathogenic
Select item 2571061	GRCh37/hg19 19p13.2(chr19:11240189-11241992)x1	LDLR	Copy number loss	not provided	GPathogenic
Select item 2571060	GRCh37/hg19 19p13.2(chr19:11233850-11242283)x1	LDLR	Copy number loss	not provided	GPathogenic

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Items: 84