ClinVar for Gene (Select 4040) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291448	NM_002336.3(LRP6):c.2377G>T (p.Ala793Ser)	LRP6 (A624S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3291447	NM_002336.3(LRP6):c.863T>C (p.Ile288Thr)	LRP6 (I137T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3291446	NM_002336.3(LRP6):c.1024A>G (p.Ile342Val)	LRP6 (I342V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3291445	NM_002336.3(LRP6):c.4805A>T (p.Tyr1602Phe)	LRP6 (Y1433F +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3291444	NM_002336.3(LRP6):c.4657G>A (p.Ala1553Thr)	LRP6 (A1384T +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3291443	NM_002336.3(LRP6):c.3917G>A (p.Arg1306Gln)	LRP6 (R1306Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3291442	NM_002336.3(LRP6):c.1576G>A (p.Val526Ile)	LRP6 (V375I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3244381	NC_000012.11:g.(?_12312011)_(12318131_?)dup	LRP6	Duplication	not provided	GLikely pathogenic
Select item 3244380	NC_000012.11:g.(?_12317187)_(12419669_?)dup	LRP6	Duplication	not provided	GUncertain significance
Select item 3244379	NC_000012.11:g.(?_12300280)_(12303992_?)del	LRP6	Deletion	not provided	GUncertain significance
Select item 3120329	NM_002336.3(LRP6):c.925G>A (p.Ala309Thr)	LRP6 (A158T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3120328	NM_002336.3(LRP6):c.4214A>T (p.Asp1405Val)	LRP6 (D1284V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3120327	NM_002336.3(LRP6):c.3667G>A (p.Asp1223Asn)	LRP6 (D1054N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3120326	NM_002336.3(LRP6):c.3658G>T (p.Val1220Leu)	LRP6 (V1051L +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3120324	NM_002336.3(LRP6):c.3649A>G (p.Ile1217Val)	LRP6 (I1248V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3120322	NM_002336.3(LRP6):c.2744G>A (p.Gly915Glu)	LRP6 (G746E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3120321	NM_002336.3(LRP6):c.2711G>A (p.Cys904Tyr)	LRP6 (C838Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3120320	NM_002336.3(LRP6):c.2701T>C (p.Ser901Pro)	LRP6 (S750P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3120319	NM_002336.3(LRP6):c.2010T>A (p.Asp670Glu)	LRP6 (D519E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3120318	NM_002336.3(LRP6):c.1922A>T (p.Asp641Val)	LRP6 (D490V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3120317	NM_002336.3(LRP6):c.1378A>G (p.Met460Val)	LRP6 (M460V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3120316	NM_002336.3(LRP6):c.124A>G (p.Asn42Asp)	LRP6 (N42D)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3067644	NM_002336.3(LRP6):c.4649T>C (p.Val1550Ala)	LRP6 (V1381A +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3032907	NM_002336.3(LRP6):c.1133A>T (p.Asp378Val)	LRP6 (D227V +2 more)	Single nucleotide variant (missense variant +1 more)	LRP6-related disorder	GUncertain significance
Select item 3019048	NM_002336.3(LRP6):c.4450-8dup	LRP6	Duplication (intron variant)	not provided	GLikely benign
Select item 3018711	NM_002336.3(LRP6):c.1962G>A (p.Val654=)	LRP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3016288	NM_002336.3(LRP6):c.903A>T (p.Pro301=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3009157	NM_002336.3(LRP6):c.1779T>C (p.Ala593=)	LRP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3007657	NM_002336.3(LRP6):c.1943A>G (p.Glu648Gly)	LRP6 (E497G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3003632	NM_002336.3(LRP6):c.4081+16A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003274	NM_002336.3(LRP6):c.1441C>T (p.Arg481Cys)	LRP6 (R415C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000352	NM_002336.3(LRP6):c.1497T>C (p.Tyr499=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2999430	NM_002336.3(LRP6):c.1776T>C (p.Cys592=)	LRP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2998367	NM_002336.3(LRP6):c.2688C>T (p.Ser896=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996141	NM_002336.3(LRP6):c.2465-13T>G	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994157	NM_002336.3(LRP6):c.1789G>A (p.Gly597Arg)	LRP6 (G531R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2991953	NM_002336.3(LRP6):c.228A>G (p.Lys76=)	LRP6	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2991018	NM_002336.3(LRP6):c.3241_3243del (p.Pro1081del)	LRP6 (P1015del +3 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2990575	NM_002336.3(LRP6):c.4601C>G (p.Thr1534Arg)	LRP6 (T1383R +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2989566	NM_002336.3(LRP6):c.341C>G (p.Ser114Cys)	LRP6 (S114C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2989200	NM_002336.3(LRP6):c.3721C>G (p.Leu1241Val)	LRP6 (L1272V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2989075	NM_002336.3(LRP6):c.2472C>T (p.Asn824=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988865	NM_002336.3(LRP6):c.55+10G>C	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988039	NM_002336.3(LRP6):c.389A>C (p.Lys130Thr)	LRP6 (K130T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2987451	NM_002336.3(LRP6):c.2995-7T>G	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984951	NM_002336.3(LRP6):c.919C>A (p.Gln307Lys)	LRP6 (Q307K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984343	NM_002336.3(LRP6):c.2436C>A (p.Thr812=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984342	NM_002336.3(LRP6):c.2792-9C>G	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983921	NM_002336.3(LRP6):c.4313G>C (p.Gly1438Ala)	LRP6 (G1469A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2983742	NM_002336.3(LRP6):c.1355T>C (p.Val452Ala)	LRP6 (V452A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983676	NM_002336.3(LRP6):c.4313-13C>T	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982050	NM_002336.3(LRP6):c.2526A>T (p.Gln842His)	LRP6 (Q673H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2979282	NM_002336.3(LRP6):c.2565T>C (p.Ile855=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979029	NM_002336.3(LRP6):c.3209A>G (p.Tyr1070Cys)	LRP6 (Y1004C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2977532	NM_002336.3(LRP6):c.1374-10A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976307	NM_002336.3(LRP6):c.4231A>T (p.Asn1411Tyr)	LRP6 (N1366Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974370	NM_002336.3(LRP6):c.2839A>G (p.Met947Val)	LRP6 (M796V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973846	NM_002336.3(LRP6):c.2792-20T>C	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973845	NM_002336.3(LRP6):c.2792-18del	LRP6	Deletion (intron variant)	not provided	GLikely benign
Select item 2973107	NM_002336.3(LRP6):c.4450-20T>G	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972603	NM_002336.3(LRP6):c.3990G>C (p.Gln1330His)	LRP6 (Q1161H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972057	NM_002336.3(LRP6):c.4115A>G (p.Asn1372Ser)	LRP6 (N1203S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968281	NM_002336.3(LRP6):c.4082-8_4082-6del	LRP6	Deletion (intron variant)	not provided	GLikely benign
Select item 2967573	NM_002336.3(LRP6):c.2791+3A>G	LRP6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967113	NM_002336.3(LRP6):c.1952A>G (p.Asn651Ser)	LRP6 (N500S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2966509	NM_002336.3(LRP6):c.3971-17_3971-14del	LRP6	Deletion (intron variant)	not provided	GLikely benign
Select item 2959253	NM_002336.3(LRP6):c.2517T>C (p.Thr839=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955861	NM_002336.3(LRP6):c.3607+17T>C	LRP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955383	NM_002336.3(LRP6):c.4086G>A (p.Pro1362=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2919748	NM_002336.3(LRP6):c.3077G>A (p.Arg1026His)	LRP6 (R960H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2914783	NM_002336.3(LRP6):c.3806G>A (p.Arg1269Gln)	LRP6 (R1100Q +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2908693	NM_002336.3(LRP6):c.3391C>G (p.Leu1131Val)	LRP6 (L980V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907708	NM_002336.3(LRP6):c.694T>C (p.Leu232=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902269	NM_002336.3(LRP6):c.1788C>T (p.Asn596=)	LRP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2896931	NM_002336.3(LRP6):c.3524G>A (p.Arg1175Gln)	LRP6 (R1006Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895745	NM_002336.3(LRP6):c.4333A>G (p.Met1445Val)	LRP6 (M1294V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894178	NM_002336.3(LRP6):c.1846A>G (p.Ile616Val)	LRP6 (I550V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2893266	NM_002336.3(LRP6):c.1157G>A (p.Arg386His)	LRP6 (R235H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2892645	NM_002336.3(LRP6):c.4800C>T (p.His1600=)	LRP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2891640	NM_002336.3(LRP6):c.2988C>T (p.Gly996=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885558	NM_002336.3(LRP6):c.13C>T (p.Leu5=)	LRP6	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2880841	NM_002336.3(LRP6):c.2961C>T (p.Asn987=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871809	NM_002336.3(LRP6):c.3807G>T (p.Arg1269=)	LRP6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2866362	NM_002336.3(LRP6):c.3804G>A (p.Trp1268Ter)	LRP6 (W1117* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2864096	NM_002336.3(LRP6):c.1162_1168del (p.Phe388fs)	LRP6 (F322fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2863726	NM_002336.3(LRP6):c.2884C>G (p.His962Asp)	LRP6 (H811D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2861067	NM_002336.3(LRP6):c.2728G>A (p.Gly910Arg)	LRP6 (G844R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2859315	NM_002336.3(LRP6):c.310T>C (p.Trp104Arg)	LRP6 (W104R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2858579	NM_002336.3(LRP6):c.1374-24_1374-14del	LRP6	Deletion (intron variant)	not provided	GUncertain significance
Select item 2854217	NM_002336.3(LRP6):c.3255G>A (p.Arg1085=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2853888	NM_002336.3(LRP6):c.3162C>T (p.Gly1054=)	LRP6	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2852604	NM_002336.3(LRP6):c.281T>G (p.Leu94Ter)	LRP6 (L94*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 2850249	NM_002336.3(LRP6):c.1930C>T (p.Arg644Ter)	LRP6 (R578* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2845176	NM_002336.3(LRP6):c.2792-19C>A	LRP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841616	NM_002336.3(LRP6):c.1652A>C (p.Gln551Pro)	LRP6 (Q485P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2836406	NM_002336.3(LRP6):c.2858A>G (p.Gln953Arg)	LRP6 (Q887R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2826461	NM_002336.3(LRP6):c.2392A>G (p.Ile798Val)	LRP6 (I629V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818219	NM_002336.3(LRP6):c.2431G>A (p.Asp811Asn)	LRP6 (D660N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812056	NM_002336.3(LRP6):c.2523_2531delinsTCTTGGTACTAACTCAGTATCTCAGTAACTTGGTCCAG (p.Gln842_Tyr844delinsLeuGlyThrAsnSerValSerGlnTer)	LRP6	Indel (nonsense +1 more)	not provided	GPathogenic

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