4035[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 1297211	NC_000012.12:g.57128474C>G	LRP1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 3120111	NM_002332.3(LRP1):c.14C>T (p.Pro5Leu)	LRP1 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044400	NM_002332.3(LRP1):c.67+3G>A	LRP1	Single nucleotide variant (intron variant)	LRP1-related disorder	GLikely benign
Select item 1252543	NM_002332.3(LRP1):c.68-291C>T	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3120109	NM_002332.3(LRP1):c.137G>C (p.Arg46Pro)	LRP1 (R46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315336	NM_002332.3(LRP1):c.137G>A (p.Arg46Gln)	LRP1 (R46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242261	NM_002332.3(LRP1):c.160C>T (p.Pro54Ser)	LRP1 (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509820	NM_002332.3(LRP1):c.166G>A (p.Gly56Arg)	LRP1 (G56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643111	NM_002332.3(LRP1):c.174C>T (p.Asp58=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1224154	NM_002332.3(LRP1):c.190+199G>A	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177675	NM_002332.3(LRP1):c.191-245G>A	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728965	NM_002332.3(LRP1):c.211C>A (p.Arg71=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 930178	NM_002332.3(LRP1):c.300C>T (p.Asp100=)	LRP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3291369	NM_002332.3(LRP1):c.406A>C (p.Asn136His)	LRP1 (N136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034492	NM_002332.3(LRP1):c.471C>T (p.Tyr157=)	LRP1, LRP1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	LRP1-related disorder	GLikely benign
Select item 732612	NM_002332.3(LRP1):c.489A>G (p.Leu163=)	LRP1, LRP1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734666	NM_002332.3(LRP1):c.543G>A (p.Leu181=)	LRP1, LRP1-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3120121	NM_002332.3(LRP1):c.548C>T (p.Pro183Leu)	LRP1, LRP1-AS (P183L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2524649	NM_002332.3(LRP1):c.635C>T (p.Thr212Met)	LRP1, LRP1-AS (T212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042317	NM_002332.3(LRP1):c.650C>T (p.Ala217Val)	LRP1, LRP1-AS (A217V)	Single nucleotide variant (missense variant)	LRP1-related disorder	GBenign
Select item 2691745	NM_002332.3(LRP1):c.670C>G (p.Pro224Ala)	LRP1, LRP1-AS	Single nucleotide variant (missense variant)	Developmental dysplasia of the hip 3	GPathogenic
Select item 3291354	NM_002332.3(LRP1):c.685C>A (p.Gln229Lys)	LRP1, LRP1-AS (Q229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248012	NM_002332.3(LRP1):c.713C>T (p.Ala238Val)	LRP1, LRP1-AS (A238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120127	NM_002332.3(LRP1):c.716A>G (p.Asn239Ser)	LRP1, LRP1-AS (N239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291353	NM_002332.3(LRP1):c.724G>A (p.Val242Ile)	LRP1, LRP1-AS (V242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775310	NM_002332.3(LRP1):c.762G>A (p.Thr254=)	LRP1-AS, LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2406868	NM_002332.3(LRP1):c.805G>A (p.Asp269Asn)	LRP1, LRP1-AS (D269N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217821	NM_002332.3(LRP1):c.838C>T (p.His280Tyr)	LRP1, LRP1-AS (H280Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120136	NM_002332.3(LRP1):c.901G>A (p.Asp301Asn)	LRP1 (D301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120140	NM_002332.3(LRP1):c.913T>A (p.Phe305Ile)	LRP1 (F305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755901	NM_002332.3(LRP1):c.958C>T (p.Leu320=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2518684	NM_002332.3(LRP1):c.997G>T (p.Ala333Ser)	LRP1 (A333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249455	NM_002332.3(LRP1):c.1072C>T (p.Arg358Cys)	LRP1 (R358C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672508	NM_002332.3(LRP1):c.1083C>T (p.Leu361=)	LRP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2291782	NM_002332.3(LRP1):c.1198G>A (p.Gly400Ser)	LRP1 (G400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1236796	NM_002332.3(LRP1):c.1209C>T (p.Thr403=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3045468	NM_002332.3(LRP1):c.1228-7G>A	LRP1	Single nucleotide variant (intron variant)	LRP1-related disorder	GLikely benign
Select item 2519186	NM_002332.3(LRP1):c.1236C>A (p.His412Gln)	LRP1 (H412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120110	NM_002332.3(LRP1):c.1415G>A (p.Arg472Gln)	LRP1 (R472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741601	NM_002332.3(LRP1):c.1440C>T (p.Asn480=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3291370	NM_002332.3(LRP1):c.1450G>A (p.Gly484Arg)	LRP1 (G484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728775	NM_002332.3(LRP1):c.1458G>A (p.Pro486=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2251996	NM_002332.3(LRP1):c.1490A>G (p.Asn497Ser)	LRP1 (N497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591504	NM_002332.3(LRP1):c.1520G>A (p.Arg507His)	LRP1 (R507H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051825	NM_002332.3(LRP1):c.1524C>T (p.Ser508=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 2643112	NM_002332.3(LRP1):c.1545C>T (p.Asp515=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 816915	NM_002332.3(LRP1):c.1576C>G (p.Leu526Val)	LRP1 (L526V)	Single nucleotide variant (missense variant)	Tricuspid atresia +1 more	GUncertain significance
Select item 2467156	NM_002332.3(LRP1):c.1708A>C (p.Thr570Pro)	LRP1 (T570P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548442	NM_002332.3(LRP1):c.1711G>A (p.Gly571Ser)	LRP1 (G571S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267024	NM_002332.3(LRP1):c.1754G>A (p.Arg585His)	LRP1 (R585H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120112	NM_002332.3(LRP1):c.1856C>T (p.Thr619Met)	LRP1 (T619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231860	NM_002332.3(LRP1):c.1915C>T (p.Arg639Cys)	LRP1 (R639C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351946	NM_002332.3(LRP1):c.2024G>A (p.Arg675Gln)	LRP1 (R675Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291352	NM_002332.3(LRP1):c.2066G>A (p.Arg689Gln)	LRP1 (R689Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262212	NM_002332.3(LRP1):c.2069A>G (p.Asp690Gly)	LRP1 (D690G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512395	NM_002332.3(LRP1):c.2135G>A (p.Arg712His)	LRP1 (R712H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725003	NM_002332.3(LRP1):c.2169C>T (p.Ile723=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3120113	NM_002332.3(LRP1):c.2185A>G (p.Asn729Asp)	LRP1 (N729D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1271420	NM_002332.3(LRP1):c.2202+130G>A	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271307	NM_002332.3(LRP1):c.2203-287C>T	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2221640	NM_002332.3(LRP1):c.2261A>T (p.Tyr754Phe)	LRP1 (Y754F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728510	NM_002332.3(LRP1):c.2301C>T (p.Arg767=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 219352	NM_002332.3(LRP1):c.2309G>A (p.Arg770Gln)	LRP1 (R770Q)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 746720	NM_002332.3(LRP1):c.2314G>A (p.Val772Ile)	LRP1 (V772I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3291363	NM_002332.3(LRP1):c.2320G>C (p.Gly774Arg)	LRP1 (G774R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052531	NM_002332.3(LRP1):c.2322C>T (p.Gly774=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 2643113	NM_002332.3(LRP1):c.2323G>C (p.Ala775Pro)	LRP1 (A775P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786608	NM_002332.3(LRP1):c.2339C>T (p.Thr780Ile)	LRP1 (T780I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 796867	NM_002332.3(LRP1):c.2379A>C (p.Arg793=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056201	NM_002332.3(LRP1):c.2436C>T (p.Gly812=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3120114	NM_002332.3(LRP1):c.2545G>A (p.Val849Met)	LRP1 (V849M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242385	NM_002332.3(LRP1):c.2672-58G>A	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2643114	NM_002332.3(LRP1):c.2718G>A (p.Arg906=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691746	NM_002332.3(LRP1):c.2798-4C>A	LRP1	Single nucleotide variant (intron variant)	Developmental dysplasia of the hip 3	GPathogenic
Select item 2249752	NM_002332.3(LRP1):c.2803A>C (p.Thr935Pro)	LRP1 (T935P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372944	NM_002332.3(LRP1):c.2812C>T (p.Pro938Ser)	LRP1 (P938S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726652	NM_002332.3(LRP1):c.2877C>T (p.Asp959=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465045	NM_002332.3(LRP1):c.2909C>T (p.Ser970Leu)	LRP1 (S970L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235121	NM_002332.3(LRP1):c.2995+72G>T	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269528	NM_002332.3(LRP1):c.2995+144C>T	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 762265	NM_002332.3(LRP1):c.2996-6C>T	LRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643115	NM_002332.3(LRP1):c.3021C>T (p.Asp1007=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050249	NM_002332.3(LRP1):c.3027C>T (p.Ala1009=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 2629216	NM_002332.3(LRP1):c.3085C>T (p.Pro1029Ser)	LRP1 (P1029S)	Single nucleotide variant (missense variant)	LRP1-related disorder	GUncertain significance
Select item 721502	NM_002332.3(LRP1):c.3164-23_3164-10del	LRP1	Deletion (intron variant)	not provided	GBenign
Select item 723846	NM_002332.3(LRP1):c.3288C>T (p.Ser1096=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252514	NM_002332.3(LRP1):c.3346+47G>T	LRP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2337882	NM_002332.3(LRP1):c.3386A>G (p.Asn1129Ser)	LRP1 (N1129S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787403	NM_002332.3(LRP1):c.3387T>C (p.Asn1129=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3120117	NM_002332.3(LRP1):c.3401A>C (p.Asn1134Thr)	LRP1 (N1134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740411	NM_002332.3(LRP1):c.3408C>T (p.Asp1136=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530870	NM_002332.3(LRP1):c.3423G>C (p.Glu1141Asp)	LRP1 (E1141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378205	NM_002332.3(LRP1):c.3446C>T (p.Ser1149Leu)	LRP1 (S1149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536752	NM_002332.3(LRP1):c.3461A>G (p.Asn1154Ser)	LRP1 (N1154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773831	NM_002332.3(LRP1):c.3507C>T (p.Asn1169=)	LRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2518984	NM_002332.3(LRP1):c.3523G>A (p.Gly1175Ser)	LRP1 (G1175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226322	NM_002332.3(LRP1):c.3546C>T (p.Cys1182=)	LRP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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