ClinVar for Gene (Select 4035) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352539	NM_002332.3(LRP1):c.7494G>A (p.Gln2498=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3347638	NM_002332.3(LRP1):c.7606G>A (p.Glu2536Lys)	LRP1 (E2536K)	Single nucleotide variant (missense variant)	LRP1-related disorder	GUncertain significance
Select item 3345645	NM_002332.3(LRP1):c.5239C>T (p.Leu1747=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3344179	NM_002332.3(LRP1):c.7700AGA[1] (p.Lys2568del)	LRP1 (K2568del)	Microsatellite (inframe_deletion)	LRP1-related disorder	GUncertain significance
Select item 3339014	NM_002332.3(LRP1):c.7715A>C (p.Gln2572Pro)	LRP1 (Q2572P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291372	NM_002332.3(LRP1):c.13491C>A (p.Asp4497Glu)	LRP1 (D4497E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291371	NM_002332.3(LRP1):c.9877C>T (p.Pro3293Ser)	LRP1 (P3293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3291369	NM_002332.3(LRP1):c.406A>C (p.Asn136His)	LRP1 (N136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291367	NM_002332.3(LRP1):c.3866A>G (p.Tyr1289Cys)	LRP1 (Y1289C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291366	NM_002332.3(LRP1):c.12283A>G (p.Ile4095Val)	LRP1 (I4095V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291365	NM_002332.3(LRP1):c.6877G>A (p.Gly2293Ser)	LRP1 (G2293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291364	NM_002332.3(LRP1):c.12638A>G (p.Asn4213Ser)	LRP1 (N4213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3291362	NM_002332.3(LRP1):c.11446G>A (p.Val3816Met)	LRP1 (V3816M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291361	NM_002332.3(LRP1):c.13241G>A (p.Ser4414Asn)	LRP1 (S4414N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291360	NM_002332.3(LRP1):c.10921G>A (p.Gly3641Ser)	LRP1 (G3641S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291359	NM_002332.3(LRP1):c.4283G>A (p.Arg1428Gln)	LOC126861539, LRP1 (R1428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291358	NM_002332.3(LRP1):c.13340G>A (p.Arg4447Gln)	LRP1 (R4447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291356	NM_002332.3(LRP1):c.8522G>A (p.Arg2841His)	LRP1 (R2841H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291355	NM_002332.3(LRP1):c.6571G>A (p.Gly2191Arg)	LRP1 (G2191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3291352	NM_002332.3(LRP1):c.2066G>A (p.Arg689Gln)	LRP1 (R689Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291351	NM_002332.3(LRP1):c.8621G>A (p.Arg2874His)	LRP1 (R2874H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3120146	NM_002332.3(LRP1):c.9983G>A (p.Arg3328His)	LRP1 (R3328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120145	NM_002332.3(LRP1):c.9860C>T (p.Pro3287Leu)	LRP1 (P3287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120144	NM_002332.3(LRP1):c.9544G>A (p.Val3182Ile)	LRP1 (V3182I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120143	NM_002332.3(LRP1):c.9341G>A (p.Gly3114Asp)	LRP1 (G3114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120142	NM_002332.3(LRP1):c.9293G>A (p.Arg3098His)	LRP1 (R3098H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120141	NM_002332.3(LRP1):c.9245T>C (p.Met3082Thr)	LRP1 (M3082T)	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 3120139	NM_002332.3(LRP1):c.9122A>G (p.Lys3041Arg)	LRP1 (K3041R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120138	NM_002332.3(LRP1):c.9079G>A (p.Glu3027Lys)	LRP1 (E3027K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120137	NM_002332.3(LRP1):c.9051C>G (p.Asp3017Glu)	LRP1 (D3017E)	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 3120135	NM_002332.3(LRP1):c.8776G>C (p.Gly2926Arg)	LRP1 (G2926R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120134	NM_002332.3(LRP1):c.8347G>A (p.Gly2783Ser)	LRP1 (G2783S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120133	NM_002332.3(LRP1):c.8318C>T (p.Thr2773Met)	LRP1 (T2773M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120132	NM_002332.3(LRP1):c.8300C>T (p.Ala2767Val)	LRP1 (A2767V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120131	NM_002332.3(LRP1):c.8173G>A (p.Glu2725Lys)	LRP1 (E2725K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120130	NM_002332.3(LRP1):c.7573C>G (p.Arg2525Gly)	LRP1 (R2525G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120129	NM_002332.3(LRP1):c.7542C>G (p.Asp2514Glu)	LRP1 (D2514E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120128	NM_002332.3(LRP1):c.7186G>A (p.Ala2396Thr)	LRP1 (A2396T)	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 3120126	NM_002332.3(LRP1):c.6688C>T (p.Pro2230Ser)	LRP1 (P2230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120125	NM_002332.3(LRP1):c.6287T>C (p.Met2096Thr)	LRP1 (M2096T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120124	NM_002332.3(LRP1):c.5804C>T (p.Thr1935Ile)	LRP1 (T1935I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120123	NM_002332.3(LRP1):c.5726A>G (p.Asn1909Ser)	LRP1 (N1909S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120122	NM_002332.3(LRP1):c.5543A>G (p.Asn1848Ser)	LRP1 (N1848S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3120120	NM_002332.3(LRP1):c.4180C>G (p.Leu1394Val)	LOC126861539, LRP1 (L1394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120119	NM_002332.3(LRP1):c.3863A>G (p.Asp1288Gly)	LRP1 (D1288G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120118	NM_002332.3(LRP1):c.3785G>A (p.Arg1262His)	LRP1 (R1262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3120114	NM_002332.3(LRP1):c.2545G>A (p.Val849Met)	LRP1 (V849M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3120112	NM_002332.3(LRP1):c.1856C>T (p.Thr619Met)	LRP1 (T619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3120110	NM_002332.3(LRP1):c.1415G>A (p.Arg472Gln)	LRP1 (R472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3120108	NM_002332.3(LRP1):c.13561C>G (p.Leu4521Val)	LRP1 (L4521V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120107	NM_002332.3(LRP1):c.13390A>G (p.Met4464Val)	LRP1 (M4464V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120106	NM_002332.3(LRP1):c.13132G>A (p.Val4378Ile)	LRP1 (V4378I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120105	NM_002332.3(LRP1):c.12901G>A (p.Asp4301Asn)	LRP1 (D4301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120104	NM_002332.3(LRP1):c.12778A>G (p.Thr4260Ala)	LRP1 (T4260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120103	NM_002332.3(LRP1):c.12674G>T (p.Arg4225Leu)	LRP1 (R4225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120101	NM_002332.3(LRP1):c.12542C>T (p.Thr4181Ile)	LRP1 (T4181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120100	NM_002332.3(LRP1):c.11893A>G (p.Ile3965Val)	LRP1 (I3965V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120099	NM_002332.3(LRP1):c.11798C>T (p.Ala3933Val)	LRP1 (A3933V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120098	NM_002332.3(LRP1):c.11725G>A (p.Val3909Ile)	LRP1 (V3909I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120097	NM_002332.3(LRP1):c.11702G>A (p.Arg3901His)	LRP1 (R3901H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120096	NM_002332.3(LRP1):c.11659C>T (p.His3887Tyr)	LRP1 (H3887Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120095	NM_002332.3(LRP1):c.11074C>T (p.Arg3692Trp)	LRP1 (R3692W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120094	NM_002332.3(LRP1):c.10360G>A (p.Ala3454Thr)	LRP1 (A3454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067729	NM_002332.3(LRP1):c.3715C>T (p.Gln1239Ter)	LRP1 (Q1239*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3067202	NM_002332.3(LRP1):c.11949G>T (p.Glu3983Asp)	LRP1 (E3983D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059097	NM_002332.3(LRP1):c.3588C>T (p.Cys1196=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3058822	NM_002332.3(LRP1):c.11064G>A (p.Glu3688=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3057945	NM_002332.3(LRP1):c.13434C>T (p.Gly4478=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3057531	NM_002332.3(LRP1):c.9810C>T (p.Ser3270=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3057246	NM_002332.3(LRP1):c.10347C>T (p.Pro3449=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3056482	NM_002332.3(LRP1):c.9174C>T (p.Asn3058=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	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 3055070	NM_002332.3(LRP1):c.7557G>A (p.Ala2519=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3053713	NM_002332.3(LRP1):c.9150G>A (p.Thr3050=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3053640	NM_002332.3(LRP1):c.4361+6C>T	LOC126861539, LRP1	Single nucleotide variant (intron variant)	LRP1-related disorder	GLikely benign
Select item 3053286	NM_002332.3(LRP1):c.7458C>T (p.Asn2486=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
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 3051863	NM_002332.3(LRP1):c.9177C>T (p.Ala3059=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
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 3050870	NM_002332.3(LRP1):c.10764C>T (p.Ile3588=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3050410	NM_002332.3(LRP1):c.11445C>T (p.Thr3815=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	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 3048905	NM_002332.3(LRP1):c.10711+7_10711+8insGC	LRP1	Insertion (intron variant)	LRP1-related disorder	GLikely benign
Select item 3047112	NM_002332.3(LRP1):c.4606+8G>T	LRP1	Single nucleotide variant (intron variant)	LRP1-related disorder	GLikely benign
Select item 3046894	NM_002332.3(LRP1):c.7430-10C>G	LRP1	Single nucleotide variant (intron variant)	LRP1-related disorder	GLikely benign
Select item 3046727	NM_002332.3(LRP1):c.10212C>T (p.Asp3404=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign
Select item 3046455	NM_002332.3(LRP1):c.10785T>C (p.Asp3595=)	LRP1	Single nucleotide variant (synonymous variant)	LRP1-related disorder	GLikely benign

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