"Genome-Nilou Lab"[submitter] AND "LRP2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 332067	NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)	LRP2 (T4641S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 332068	NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile)	LRP2 (M4601I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 211393	NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)	LRP2 (V4562A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 893368	NM_004525.3(LRP2):c.13620+14C>G	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 211392	NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro)	LRP2 (Q4537P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 894194	NM_004525.3(LRP2):c.13359C>T (p.Ser4453=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 129505	NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp)	LRP2 (G4417D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 129504	NM_004525.3(LRP2):c.13155C>T (p.His4385=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 129503	NM_004525.3(LRP2):c.13134C>G (p.Pro4378=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 129502	NM_004525.3(LRP2):c.13113C>T (p.Ile4371=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +2 more	GBenign
Select item 894605	NM_004525.3(LRP2):c.13090A>G (p.Thr4364Ala)	LRP2 (T4364A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 729713	NM_004525.3(LRP2):c.13002C>T (p.Cys4334=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332077	NM_004525.3(LRP2):c.12811+12G>A	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 332078	NM_004525.3(LRP2):c.12756C>T (p.Asp4252=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 211390	NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly)	LRP2 (D4242G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332079	NM_004525.3(LRP2):c.12687T>C (p.Gly4229=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129501	NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)	LRP2 (I4210L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GBenign
Select item 332082	NM_004525.3(LRP2):c.12462-13C>T	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 893394	NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile)	LRP2 (V4141I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 518333	NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)	LRP2 (R4127H)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 332084	NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser)	LRP2 (R4127S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 211389	NM_004525.3(LRP2):c.12296-4G>A	LRP2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 731074	NM_004525.3(LRP2):c.12296-7T>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 129500	NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu)	LRP2 (K4094E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 129499	NM_004525.3(LRP2):c.12151+4T>C	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 129498	NM_004525.3(LRP2):c.12125G>A (p.Arg4042His)	LRP2 (R4042H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129497	NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly)	LRP2 (V3999G)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 129496	NM_004525.3(LRP2):c.11759-5T>G	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 332088	NM_004525.3(LRP2):c.11759-11T>G	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 129493	NM_004525.3(LRP2):c.11601T>C (p.Cys3867=)	LRP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 796298	NM_004525.3(LRP2):c.11568G>A (p.Pro3856=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 259412	NM_004525.3(LRP2):c.11498-13del	LRP2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 332091	NM_004525.3(LRP2):c.11478G>A (p.Ala3826=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332092	NM_004525.3(LRP2):c.11346C>T (p.Asn3782=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 746868	NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn)	LRP2 (D3779N)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332093	NM_004525.3(LRP2):c.11322G>A (p.Ser3774=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 520735	NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val)	LRP2 (E3763V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 332096	NM_004525.3(LRP2):c.11264-14C>G	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 729303	NM_004525.3(LRP2):c.11244C>T (p.Asn3748=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 129492	NM_004525.3(LRP2):c.11092G>A (p.Val3698Met)	LRP2 (V3698M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 74222	NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)	LRP2 (R3646H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 332098	NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp)	LRP2 (R3636W)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GConflicting classifications of pathogenicity
Select item 129491	NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr)	LRP2 (A3602T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 332102	NM_004525.3(LRP2):c.10647G>A (p.Pro3549=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 129490	NM_004525.3(LRP2):c.10503G>A (p.Gln3501=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +2 more	GBenign
Select item 332103	NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu)	LRP2 (P3468L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 332105	NM_004525.3(LRP2):c.10233C>T (p.Phe3411=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 332106	NM_004525.3(LRP2):c.10170-15T>G	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 516156	NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val)	LRP2 (I3389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 771338	NM_004525.3(LRP2):c.9914G>A (p.Arg3305His)	LRP2 (R3305H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 893451	NM_004525.3(LRP2):c.9650A>G (p.Tyr3217Cys)	LRP2 (Y3217C)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 773126	NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp)	LRP2 (N3205D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 596436	NM_004525.3(LRP2):c.9477G>A (p.Met3159Ile)	LRP2 (M3159I)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GConflicting classifications of pathogenicity
Select item 332112	NM_004525.3(LRP2):c.9363C>T (p.Gly3121=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332113	NM_004525.3(LRP2):c.9342C>T (p.Cys3114=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 732103	NM_004525.3(LRP2):c.9311G>A (p.Ser3104Asn)	LRP2 (S3104N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 332114	NM_004525.3(LRP2):c.9234C>T (p.His3078=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 720292	NM_004525.3(LRP2):c.9147C>T (p.Phe3049=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 726240	NM_004525.3(LRP2):c.9066C>T (p.Ser3022=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332117	NM_004525.3(LRP2):c.9040C>T (p.Arg3014Trp)	LRP2 (R3014W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 129543	NM_004525.3(LRP2):c.9033-8T>C	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign/Likely benign
Select item 332119	NM_004525.3(LRP2):c.8901C>G (p.Pro2967=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 211403	NM_004525.3(LRP2):c.8892G>A (p.Arg2964=)	LRP2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1032221	NM_004525.3(LRP2):c.8872G>T (p.Asp2958Tyr)	LRP2 (D2958Y)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 332124	NM_004525.3(LRP2):c.8699-8C>T	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 129542	NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr)	LRP2 (A2872T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 332126	NM_004525.3(LRP2):c.8453-11T>C	LRP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 129541	NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)	LRP2 (R2711H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332129	NM_004525.3(LRP2):c.8112C>A (p.Ser2704=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 760158	NM_004525.3(LRP2):c.8073C>T (p.His2691=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 748379	NM_004525.3(LRP2):c.8070G>A (p.Lys2690=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GLikely benign
Select item 714129	NM_004525.3(LRP2):c.7917A>C (p.Gly2639=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 129540	NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp)	LRP2 (N2632D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 332130	NM_004525.3(LRP2):c.7866C>T (p.Asp2622=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332132	NM_004525.3(LRP2):c.7747G>A (p.Val2583Met)	LRP2 (V2583M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 332133	NM_004525.3(LRP2):c.7627G>A (p.Val2543Ile)	LRP2 (V2543I)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 129536	NM_004525.3(LRP2):c.7626C>G (p.Arg2542=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 332135	NM_004525.3(LRP2):c.7431T>C (p.Thr2477=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 129489	NM_004525.3(LRP2):c.7384_7390+8dup	LRP2	Duplication (splice donor variant)	not provided +1 more	GUncertain significance
Select item 259420	NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly)	LRP2 (E2418G)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 332139	NM_004525.3(LRP2):c.6967C>T (p.Leu2323=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 893512	NM_004525.3(LRP2):c.6938C>T (p.Pro2313Leu)	LRP2 (P2313L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 546128	NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)	LRP2 (F2286L)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GConflicting classifications of pathogenicity
Select item 710727	NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala)	LRP2 (T2284A)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332140	NM_004525.3(LRP2):c.6810G>A (p.Val2270=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 332143	NM_004525.3(LRP2):c.6766G>T (p.Asp2256Tyr)	LRP2 (D2256Y)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GUncertain significance
Select item 129535	NM_004525.3(LRP2):c.6759T>C (p.Asp2253=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 710928	NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe)	LRP2 (L2185F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 332145	NM_004525.3(LRP2):c.6545G>A (p.Arg2182His)	LRP2 (R2182H)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332148	NM_004525.3(LRP2):c.6267G>A (p.Pro2089=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 129532	NM_004525.3(LRP2):c.6194T>C (p.Ile2065Thr)	LRP2 (I2065T)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +2 more	GBenign
Select item 742451	NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe)	LRP2 (S2059F)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 39974	NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn)	LRP2 (D2054N)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332150	NM_004525.3(LRP2):c.6130G>A (p.Ala2044Thr)	LRP2 (A2044T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332152	NM_004525.3(LRP2):c.6048C>T (p.Ala2016=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 129531	NM_004525.3(LRP2):c.6045C>T (p.Ala2015=)	LRP2	Single nucleotide variant (synonymous variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 332153	NM_004525.3(LRP2):c.6040+15C>T	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome +1 more	GBenign
Select item 259419	NM_004525.3(LRP2):c.6035G>A (p.Arg2012Lys)	LRP2 (R2012K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 129530	NM_004525.3(LRP2):c.5859A>G (p.Arg1953=)	LRP2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 332156	NM_004525.3(LRP2):c.5702C>G (p.Ala1901Gly)	LRP2 (A1901G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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