"Ambry Genetics"[submitter] AND "LRP1B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2326245	NM_018557.3(LRP1B):c.13745G>A (p.Arg4582Lys)	LRP1B (R4582K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621717	NM_018557.3(LRP1B):c.13477C>G (p.Pro4493Ala)	LRP1B (P4493A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237135	NM_018557.3(LRP1B):c.13381G>T (p.Val4461Leu)	LRP1B (V4461L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250403	NM_018557.3(LRP1B):c.13340T>C (p.Ile4447Thr)	LRP1B (I4447T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614685	NM_018557.3(LRP1B):c.13237C>T (p.Pro4413Ser)	LRP1B (P4413S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374129	NM_018557.3(LRP1B):c.13049G>A (p.Arg4350His)	LRP1B (R4350H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336285	NM_018557.3(LRP1B):c.13048C>G (p.Arg4350Gly)	LRP1B (R4350G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334179	NM_018557.3(LRP1B):c.12845C>A (p.Pro4282Gln)	LRP1B (P4282Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459680	NM_018557.3(LRP1B):c.12752A>G (p.Asn4251Ser)	LRP1B (N4251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288988	NM_018557.3(LRP1B):c.12577A>G (p.Thr4193Ala)	LRP1B (T4193A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248758	NM_018557.3(LRP1B):c.12512A>C (p.Asp4171Ala)	LRP1B (D4171A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475653	NM_018557.3(LRP1B):c.12502A>G (p.Lys4168Glu)	LRP1B (K4168E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327029	NM_018557.3(LRP1B):c.12475A>G (p.Lys4159Glu)	LRP1B (K4159E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620206	NM_018557.3(LRP1B):c.12211C>G (p.Gln4071Glu)	LRP1B (Q4071E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340950	NM_018557.3(LRP1B):c.11966C>T (p.Ser3989Phe)	LRP1B (S3989F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609670	NM_018557.3(LRP1B):c.11941G>A (p.Gly3981Arg)	LRP1B (G3981R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465502	NM_018557.3(LRP1B):c.11833G>A (p.Gly3945Arg)	LRP1B (G3945R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348610	NM_018557.3(LRP1B):c.11760T>A (p.Asn3920Lys)	LRP1B (N3920K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215599	NM_018557.3(LRP1B):c.11728G>A (p.Asp3910Asn)	LRP1B (D3910N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406463	NM_018557.3(LRP1B):c.11602G>A (p.Val3868Met)	LRP1B (V3868M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302604	NM_018557.3(LRP1B):c.11404G>A (p.Glu3802Lys)	LRP1B (E3802K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461437	NM_018557.3(LRP1B):c.11074G>A (p.Val3692Met)	LRP1B (V3692M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250616	NM_018557.3(LRP1B):c.11072G>T (p.Trp3691Leu)	LRP1B (W3691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519299	NM_018557.3(LRP1B):c.11053C>G (p.Leu3685Val)	LRP1B (L3685V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748547	NM_018557.3(LRP1B):c.10849T>C (p.Tyr3617His)	LRP1B (Y3617H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2362039	NM_018557.3(LRP1B):c.10832T>C (p.Leu3611Ser)	LRP1B (L3611S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536288	NM_018557.3(LRP1B):c.10804G>A (p.Ala3602Thr)	LRP1B (A3602T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546309	NM_018557.3(LRP1B):c.10790G>A (p.Arg3597His)	LRP1B (R3597H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380894	NM_018557.3(LRP1B):c.10747G>A (p.Asp3583Asn)	LRP1B (D3583N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617010	NM_018557.3(LRP1B):c.10687G>A (p.Gly3563Ser)	LRP1B (G3563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353687	NM_018557.3(LRP1B):c.10676G>A (p.Arg3559Gln)	LRP1B (R3559Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2273658	NM_018557.3(LRP1B):c.10611T>G (p.Asp3537Glu)	LRP1B (D3537E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329735	NM_018557.3(LRP1B):c.10591A>G (p.Arg3531Gly)	LRP1B (R3531G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526818	NM_018557.3(LRP1B):c.10547C>T (p.Thr3516Ile)	LRP1B (T3516I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389834	NM_018557.3(LRP1B):c.10511A>G (p.Asn3504Ser)	LRP1B (N3504S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259532	NM_018557.3(LRP1B):c.10301A>G (p.Asn3434Ser)	LRP1B (N3434S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337808	NM_018557.3(LRP1B):c.10066A>G (p.Arg3356Gly)	LRP1B (R3356G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474368	NM_018557.3(LRP1B):c.9946A>G (p.Asn3316Asp)	LRP1B (N3316D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353320	NM_018557.3(LRP1B):c.9887A>G (p.His3296Arg)	LRP1B (H3296R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534248	NM_018557.3(LRP1B):c.9757T>A (p.Tyr3253Asn)	LRP1B (Y3253N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517903	NM_018557.3(LRP1B):c.9418C>G (p.Gln3140Glu)	LRP1B (Q3140E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604287	NM_018557.3(LRP1B):c.9344A>G (p.Lys3115Arg)	LRP1B (K3115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206247	NM_018557.3(LRP1B):c.9268A>G (p.Asn3090Asp)	LRP1B (N3090D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285066	NM_018557.3(LRP1B):c.9193C>A (p.Pro3065Thr)	LRP1B (P3065T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213675	NM_018557.3(LRP1B):c.9035A>G (p.Asp3012Gly)	LRP1B (D3012G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591872	NM_018557.3(LRP1B):c.8956T>C (p.Tyr2986His)	LRP1B (Y2986H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276261	NM_018557.3(LRP1B):c.8808T>G (p.Ser2936Arg)	LRP1B (S2936R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490577	NM_018557.3(LRP1B):c.8512C>T (p.Pro2838Ser)	LRP1B (P2838S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374792	NM_018557.3(LRP1B):c.8363C>T (p.Pro2788Leu)	LRP1B (P2788L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598009	NM_018557.3(LRP1B):c.8350G>C (p.Glu2784Gln)	LRP1B (E2784Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259817	NM_018557.3(LRP1B):c.8308G>T (p.Gly2770Cys)	LRP1B (G2770C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237964	NM_018557.3(LRP1B):c.8132G>A (p.Arg2711His)	LRP1B (R2711H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213633	NM_018557.3(LRP1B):c.7974A>G (p.Ile2658Met)	LRP1B (I2658M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324741	NM_018557.3(LRP1B):c.7789C>T (p.Arg2597Cys)	LRP1B (R2597C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543162	NM_018557.3(LRP1B):c.7768A>G (p.Thr2590Ala)	LRP1B (T2590A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459900	NM_018557.3(LRP1B):c.7693A>C (p.Ile2565Leu)	LRP1B (I2565L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352722	NM_018557.3(LRP1B):c.7688G>T (p.Arg2563Leu)	LRP1B (R2563L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409276	NM_018557.3(LRP1B):c.7541C>T (p.Ser2514Leu)	LRP1B (S2514L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355515	NM_018557.3(LRP1B):c.7289G>A (p.Arg2430Gln)	LRP1B (R2430Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249342	NM_018557.3(LRP1B):c.7171G>C (p.Glu2391Gln)	LRP1B (E2391Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600034	NM_018557.3(LRP1B):c.7114T>C (p.Tyr2372His)	LRP1B (Y2372H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2553221	NM_018557.3(LRP1B):c.6996G>T (p.Met2332Ile)	LRP1B (M2332I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318174	NM_018557.3(LRP1B):c.6970G>T (p.Ala2324Ser)	LRP1B (A2324S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268911	NM_018557.3(LRP1B):c.6970G>A (p.Ala2324Thr)	LRP1B (A2324T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468193	NM_018557.3(LRP1B):c.6964G>A (p.Val2322Met)	LRP1B (V2322M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320908	NM_018557.3(LRP1B):c.6962A>G (p.His2321Arg)	LRP1B (H2321R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364385	NM_018557.3(LRP1B):c.6866C>T (p.Thr2289Ile)	LRP1B (T2289I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224956	NM_018557.3(LRP1B):c.6698A>G (p.Gln2233Arg)	LRP1B (Q2233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328535	NM_018557.3(LRP1B):c.6689A>G (p.Asp2230Gly)	LRP1B (D2230G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259816	NM_018557.3(LRP1B):c.6634A>G (p.Ile2212Val)	LRP1B (I2212V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486737	NM_018557.3(LRP1B):c.6617C>G (p.Thr2206Ser)	LRP1B (T2206S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225684	NM_018557.3(LRP1B):c.6373G>A (p.Gly2125Ser)	LRP1B (G2125S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262305	NM_018557.3(LRP1B):c.6139A>G (p.Ile2047Val)	LRP1B (I2047V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533764	NM_018557.3(LRP1B):c.6067A>G (p.Lys2023Glu)	LRP1B (K2023E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369919	NM_018557.3(LRP1B):c.5951G>C (p.Gly1984Ala)	LRP1B (G1984A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606575	NM_018557.3(LRP1B):c.5795A>G (p.Asn1932Ser)	LRP1B (N1932S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601512	NM_018557.3(LRP1B):c.5737G>C (p.Val1913Leu)	LRP1B (V1913L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462894	NM_018557.3(LRP1B):c.5728T>A (p.Ser1910Thr)	LRP1B (S1910T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234546	NM_018557.3(LRP1B):c.5398C>G (p.Leu1800Val)	LRP1B (L1800V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483442	NM_018557.3(LRP1B):c.5356A>C (p.Met1786Leu)	LRP1B (M1786L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405201	NM_018557.3(LRP1B):c.5018C>T (p.Thr1673Met)	LRP1B (T1673M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210088	NM_018557.3(LRP1B):c.4996A>G (p.Ile1666Val)	LRP1B (I1666V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620234	NM_018557.3(LRP1B):c.4793C>T (p.Thr1598Met)	LRP1B (T1598M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478500	NM_018557.3(LRP1B):c.4769A>G (p.Asp1590Gly)	LRP1B (D1590G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225698	NM_018557.3(LRP1B):c.4759G>A (p.Val1587Met)	LRP1B (V1587M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557952	NM_018557.3(LRP1B):c.4714A>G (p.Met1572Val)	LRP1B (M1572V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344592	NM_018557.3(LRP1B):c.4703C>T (p.Thr1568Ile)	LRP1B (T1568I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480991	NM_018557.3(LRP1B):c.4684C>G (p.Leu1562Val)	LRP1B (L1562V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272735	NM_018557.3(LRP1B):c.4577A>G (p.Gln1526Arg)	LRP1B (Q1526R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238802	NM_018557.3(LRP1B):c.4472C>A (p.Thr1491Lys)	LRP1B (T1491K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495542	NM_018557.3(LRP1B):c.4443A>C (p.Glu1481Asp)	LRP1B (E1481D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220082	NM_018557.3(LRP1B):c.4432T>C (p.Tyr1478His)	LRP1B (Y1478H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545621	NM_018557.3(LRP1B):c.4426T>C (p.Ser1476Pro)	LRP1B (S1476P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536157	NM_018557.3(LRP1B):c.4393G>A (p.Gly1465Ser)	LRP1B (G1465S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476708	NM_018557.3(LRP1B):c.4271G>C (p.Gly1424Ala)	LRP1B (G1424A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288039	NM_018557.3(LRP1B):c.4223C>T (p.Ser1408Phe)	LRP1B (S1408F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406632	NM_018557.3(LRP1B):c.4179C>G (p.Phe1393Leu)	LRP1B (F1393L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406631	NM_018557.3(LRP1B):c.4174C>G (p.Leu1392Val)	LRP1B (L1392V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257268	NM_018557.3(LRP1B):c.4171A>T (p.Ile1391Phe)	LRP1B (I1391F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464260	NM_018557.3(LRP1B):c.3941G>A (p.Arg1314Gln)	LRP1B (R1314Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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