ClinVar for Gene (Select 4036) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373600	NM_004525.3(LRP2):c.10548G>C (p.Gln3516His)	LRP2 (Q3516H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370666	NM_004525.3(LRP2):c.5641G>T (p.Ala1881Ser)	LRP2 (A1881S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370129	NM_004525.3(LRP2):c.11220T>A (p.Asp3740Glu)	LRP2 (D3740E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368660	NM_004525.3(LRP2):c.11872G>A (p.Asp3958Asn)	LRP2 (D3958N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366773	NM_004525.3(LRP2):c.11483A>G (p.Asp3828Gly)	LRP2 (D3828G)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GLikely pathogenic
Select item 3361982	NM_004525.3(LRP2):c.10651C>A (p.Arg3551Ser)	LRP2 (R3551S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361844	NM_004525.3(LRP2):c.10708A>G (p.Thr3570Ala)	LRP2 (T3570A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361586	NM_004525.3(LRP2):c.6081T>A (p.Asn2027Lys)	LRP2 (N2027K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361517	NM_004525.3(LRP2):c.3248A>G (p.His1083Arg)	LRP2 (H1083R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360067	NM_004525.3(LRP2):c.8346CAC[1] (p.Thr2784del)	LRP2 (T2784del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359778	NM_004525.3(LRP2):c.13150A>G (p.Met4384Val)	LRP2 (M4384V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357996	NM_004525.3(LRP2):c.2528C>A (p.Thr843Asn)	LRP2 (T843N)	Single nucleotide variant (missense variant)	LRP2-related disorder	GUncertain significance
Select item 3349484	NM_004525.3(LRP2):c.11953G>C (p.Gly3985Arg)	LRP2 (G3985R)	Single nucleotide variant (missense variant)	LRP2-related disorder	GUncertain significance
Select item 3344967	NM_004525.3(LRP2):c.9967C>A (p.Pro3323Thr)	LRP2 (P3323T)	Single nucleotide variant (missense variant)	LRP2-related disorder	GUncertain significance
Select item 3337251	NM_004525.3(LRP2):c.13385C>G (p.Pro4462Arg)	LRP2 (P4462R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3291428	NM_004525.3(LRP2):c.7841G>T (p.Arg2614Ile)	LRP2 (R2614I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291427	NM_004525.3(LRP2):c.6470G>A (p.Gly2157Glu)	LRP2 (G2157E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291426	NM_004525.3(LRP2):c.2749T>C (p.Phe917Leu)	LRP2 (F917L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291425	NM_004525.3(LRP2):c.13742A>G (p.Asn4581Ser)	LRP2 (N4581S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291424	NM_004525.3(LRP2):c.1168T>G (p.Ser390Ala)	LRP2 (S390A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291423	NM_004525.3(LRP2):c.8555G>A (p.Ser2852Asn)	LRP2 (S2852N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291422	NM_004525.3(LRP2):c.10917G>C (p.Gln3639His)	LRP2 (Q3639H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291421	NM_004525.3(LRP2):c.3439G>C (p.Glu1147Gln)	LRP2 (E1147Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291420	NM_004525.3(LRP2):c.8909G>C (p.Trp2970Ser)	LRP2 (W2970S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291419	NM_004525.3(LRP2):c.5012G>C (p.Trp1671Ser)	LRP2 (W1671S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291418	NM_004525.3(LRP2):c.1181C>G (p.Ala394Gly)	LRP2 (A394G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291416	NM_004525.3(LRP2):c.1819G>C (p.Val607Leu)	LRP2 (V607L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291415	NM_004525.3(LRP2):c.4864A>G (p.Met1622Val)	LRP2 (M1622V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291414	NM_004525.3(LRP2):c.10907G>A (p.Arg3636Gln)	LRP2 (R3636Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291413	NM_004525.3(LRP2):c.5554G>A (p.Gly1852Arg)	LRP2 (G1852R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3291412	NM_004525.3(LRP2):c.8237T>G (p.Phe2746Cys)	LRP2 (F2746C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257335	NM_004525.3(LRP2):c.9484G>A (p.Val3162Ile)	LRP2 (V3162I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253340	NM_004525.3(LRP2):c.13394G>A (p.Ser4465Asn)	LRP2 (S4465N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253337	NM_004525.3(LRP2):c.7132G>T (p.Asp2378Tyr)	LRP2 (D2378Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252656	NM_004525.3(LRP2):c.7408G>A (p.Gly2470Ser)	LRP2 (G2470S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252654	NM_004525.3(LRP2):c.9014G>A (p.Cys3005Tyr)	LRP2 (C3005Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251117	NM_004525.3(LRP2):c.4435C>A (p.Arg1479Ser)	LRP2 (R1479S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247529	NC_000002.11:g.(?_169993882)_(169996140_?)dup	LRP2	Duplication	not provided	GLikely pathogenic
Select item 3247528	NC_000002.11:g.(?_169780132)_(170218909_?)del	ABCB11, DHRS9 +1 more	Deletion	not provided	GPathogenic
Select item 3242131	NM_004525.3(LRP2):c.12879A>C (p.Glu4293Asp)	LRP2 (E4293D)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 3242130	NM_004525.3(LRP2):c.3622G>A (p.Asp1208Asn)	LRP2 (D1208N)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 3242111	NM_004525.3(LRP2):c.7835C>T (p.Thr2612Ile)	LRP2 (T2612I)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 3235915	NM_004525.3(LRP2):c.80-11381G>A	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 3235913	NM_004525.3(LRP2):c.5826+212A>G	LRP2	Single nucleotide variant (intron variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 3120267	NM_004525.3(LRP2):c.9880C>G (p.Leu3294Val)	LRP2 (L3294V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120266	NM_004525.3(LRP2):c.9466T>G (p.Cys3156Gly)	LRP2 (C3156G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120264	NM_004525.3(LRP2):c.9047A>G (p.Asn3016Ser)	LRP2 (N3016S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120263	NM_004525.3(LRP2):c.7921A>C (p.Asn2641His)	LRP2 (N2641H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120262	NM_004525.3(LRP2):c.7842A>C (p.Arg2614Ser)	LRP2 (R2614S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120261	NM_004525.3(LRP2):c.7831T>C (p.Tyr2611His)	LRP2 (Y2611H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120260	NM_004525.3(LRP2):c.7495A>G (p.Asn2499Asp)	LRP2 (N2499D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120258	NM_004525.3(LRP2):c.6265C>T (p.Pro2089Ser)	LRP2 (P2089S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120257	NM_004525.3(LRP2):c.5870T>G (p.Val1957Gly)	LRP2 (V1957G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120255	NM_004525.3(LRP2):c.5451A>G (p.Ile1817Met)	LRP2 (I1817M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120254	NM_004525.3(LRP2):c.5035G>T (p.Val1679Leu)	LRP2 (V1679L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120252	NM_004525.3(LRP2):c.4534G>A (p.Glu1512Lys)	LRP2 (E1512K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120251	NM_004525.3(LRP2):c.4531A>G (p.Thr1511Ala)	LRP2 (T1511A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120250	NM_004525.3(LRP2):c.369T>G (p.Ser123Arg)	LRP2 (S123R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120248	NM_004525.3(LRP2):c.3123T>G (p.Asn1041Lys)	LRP2 (N1041K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120247	NM_004525.3(LRP2):c.3020C>T (p.Ala1007Val)	LRP2 (A1007V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120246	NM_004525.3(LRP2):c.3004T>G (p.Tyr1002Asp)	LRP2 (Y1002D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120245	NM_004525.3(LRP2):c.2956C>T (p.His986Tyr)	LRP2 (H986Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120244	NM_004525.3(LRP2):c.26C>T (p.Ala9Val)	LRP2 (A9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120243	NM_004525.3(LRP2):c.2510C>T (p.Ala837Val)	LRP2 (A837V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120242	NM_004525.3(LRP2):c.2122C>A (p.Gln708Lys)	LRP2 (Q708K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3120241	NM_004525.3(LRP2):c.1846T>C (p.Phe616Leu)	LRP2 (F616L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120240	NM_004525.3(LRP2):c.1430T>C (p.Val477Ala)	LRP2 (V477A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120239	NM_004525.3(LRP2):c.13039G>A (p.Gly4347Arg)	LRP2 (G4347R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120238	NM_004525.3(LRP2):c.12805A>G (p.Lys4269Glu)	LRP2 (K4269E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120237	NM_004525.3(LRP2):c.11572T>C (p.Tyr3858His)	LRP2 (Y3858H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120235	NM_004525.3(LRP2):c.10275G>T (p.Trp3425Cys)	LRP2 (W3425C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120234	NM_004525.3(LRP2):c.10193A>G (p.His3398Arg)	LRP2 (H3398R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3120233	NM_004525.3(LRP2):c.10108A>G (p.Ile3370Val)	LRP2 (I3370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067923	NM_004525.3(LRP2):c.4103C>G (p.Pro1368Arg)	LRP2 (P1368R)	Single nucleotide variant (missense variant)	Donnai-Barrow syndrome	GUncertain significance
Select item 3067512	NM_004525.3(LRP2):c.1310G>T (p.Arg437Ile)	LRP2 (R437I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 3054363	NM_004525.3(LRP2):c.2694C>T (p.Thr898=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder	GLikely benign
Select item 3052610	NM_004525.3(LRP2):c.8526T>C (p.Cys2842=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder	GLikely benign
Select item 3052102	NM_004525.3(LRP2):c.8112C>T (p.Ser2704=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder	GLikely benign
Select item 3051864	NM_004525.3(LRP2):c.310+7G>A	LRP2	Single nucleotide variant (intron variant)	LRP2-related disorder	GLikely benign
Select item 3050239	NM_004525.3(LRP2):c.3678T>G (p.Pro1226=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder	GLikely benign
Select item 3046592	NM_004525.3(LRP2):c.8670T>C (p.Phe2890=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder	GLikely benign
Select item 3045148	NM_004525.3(LRP2):c.9735T>A (p.Asp3245Glu)	LRP2 (D3245E)	Single nucleotide variant (missense variant)	LRP2-related disorder	GUncertain significance
Select item 3043967	NM_004525.3(LRP2):c.923-3T>C	LRP2	Single nucleotide variant (intron variant)	LRP2-related disorder	GLikely benign
Select item 3032127	NM_004525.3(LRP2):c.1794C>T (p.Gly598=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder	GLikely benign
Select item 3031209	NM_004525.3(LRP2):c.11961T>C (p.Phe3987=)	LRP2	Single nucleotide variant (synonymous variant)	LRP2-related disorder	GLikely benign
Select item 3027036	NM_004525.3(LRP2):c.13894A>C (p.Thr4632Pro)	LRP2 (T4632P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023839	NM_004525.3(LRP2):c.3668-4C>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023172	NM_004525.3(LRP2):c.13108+9A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022986	NM_004525.3(LRP2):c.5706T>C (p.Ser1902=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022557	NM_004525.3(LRP2):c.12519A>G (p.Gly4173=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022463	NM_004525.3(LRP2):c.8830+14A>G	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022439	NM_004525.3(LRP2):c.4344C>T (p.Ala1448=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022435	NM_004525.3(LRP2):c.10107C>T (p.Gly3369=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022434	NM_004525.3(LRP2):c.12461+16A>T	LRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021926	NM_004525.3(LRP2):c.11498-20del	LRP2	Deletion (intron variant)	not provided	GLikely benign
Select item 3021614	NM_004525.3(LRP2):c.8556T>C (p.Ser2852=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020924	NM_004525.3(LRP2):c.1140G>A (p.Glu380=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020633	NM_004525.3(LRP2):c.3912C>T (p.Asp1304=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019788	NM_004525.3(LRP2):c.10977T>C (p.Asp3659=)	LRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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