ClinVar for MedGen (Select 395226) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066107	NM_002334.4(LRP4):c.2144C>G (p.Pro715Arg)	LRP4 (P715R)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 2954512	NM_002334.4(LRP4):c.2613-11C>A	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2954176	NM_002334.4(LRP4):c.53-15T>C	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2953774	NM_002334.4(LRP4):c.4229+20C>G	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2952108	NM_002334.4(LRP4):c.1184-5C>T	LRP4	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2951982	NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2951759	NM_002334.4(LRP4):c.3699+19C>T	LRP4	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2951509	NM_002334.4(LRP4):c.3364+11C>T	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2951327	NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2950603	NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2950498	NM_002334.4(LRP4):c.4952-20C>A	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2950469	NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2950364	NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)	LRP4 (V376fs)	Duplication (frameshift variant)	Sclerosteosis 2 +2 more	GPathogenic
Select item 2950105	NM_002334.4(LRP4):c.306G>A (p.Glu102=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2950037	NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)	LRP4, LRP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2949861	NM_002334.4(LRP4):c.1317G>A (p.Glu439=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2949472	NM_002334.4(LRP4):c.2216-18C>T	LRP4	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2948492	NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2948041	NM_002334.4(LRP4):c.2507-1G>A	LRP4	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 17 +2 more	GLikely pathogenic
Select item 2947988	NM_002334.4(LRP4):c.1302G>A (p.Lys434=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2947511	NM_002334.4(LRP4):c.317-12C>G	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2947381	NM_002334.4(LRP4):c.143A>G (p.Gln48Arg)	LRP4 (Q48R)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2947199	NM_002334.4(LRP4):c.1629C>T (p.Ala543=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2947176	NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2946514	NM_002334.4(LRP4):c.3137-13C>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2945597	NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)	LRP4, LRP4-AS1 (N1467fs)	Duplication (non-coding transcript variant +1 more)	Congenital myasthenic syndrome 17 +2 more	GPathogenic
Select item 2945504	NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2945121	NM_002334.4(LRP4):c.2142G>T (p.Leu714=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2943051	NM_002334.4(LRP4):c.4952-17T>C	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2941754	NM_002334.4(LRP4):c.4693-12C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2941126	NM_002334.4(LRP4):c.1854G>A (p.Lys618=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2940968	NM_002334.4(LRP4):c.547+14G>A	LRP4	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2940545	NM_002334.4(LRP4):c.2613-11_2613-7dup	LRP4	Duplication (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2939870	NM_002334.4(LRP4):c.1236C>T (p.Ser412=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2938584	NM_002334.4(LRP4):c.600T>C (p.Tyr200=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2937965	NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)	LRP4 (D300N)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GLikely pathogenic
Select item 2936984	NM_002334.4(LRP4):c.1184-18C>T	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2936736	NM_002334.4(LRP4):c.4229+15G>A	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2935028	NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2935026	NM_002334.4(LRP4):c.53-12C>G	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2934828	NM_002334.4(LRP4):c.5244-6C>T	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2934623	NM_002334.4(LRP4):c.2337C>T (p.Asp779=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2934367	NM_002334.4(LRP4):c.4693-12C>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2933600	NM_002334.4(LRP4):c.199+12C>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2933418	NM_002334.4(LRP4):c.2001C>T (p.Asn667=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2933365	NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)	LRP4, LRP4-AS1 (W1893fs)	Deletion (frameshift variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2933192	NM_002334.4(LRP4):c.1626G>A (p.Gly542=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2933118	NM_002334.4(LRP4):c.2043C>G (p.Leu681=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2932951	NM_002334.4(LRP4):c.2090C>T (p.Ala697Val)	LRP4 (A697V)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2932604	NM_002334.4(LRP4):c.1118G>C (p.Arg373Pro)	LRP4 (R373P)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2932301	NM_002334.4(LRP4):c.1095T>C (p.Cys365=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2932039	NM_002334.4(LRP4):c.2919G>T (p.Arg973=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2931306	NM_002334.4(LRP4):c.1540+13G>A	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2930888	NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)	LRP4 (D62N)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 2930826	NM_002334.4(LRP4):c.3137-4G>A	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2930422	NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2930048	NM_002334.4(LRP4):c.276G>A (p.Gly92=)	LRP4	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2929541	NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2929193	NM_002334.4(LRP4):c.3004+13T>C	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2928367	NM_002334.4(LRP4):c.2592C>T (p.Ile864=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2928354	NM_002334.4(LRP4):c.1026C>T (p.Asp342=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2928163	NM_002334.4(LRP4):c.53-6G>A	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2928048	NM_002334.4(LRP4):c.1503C>T (p.Asn501=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2927364	NM_002334.4(LRP4):c.2794C>T (p.Leu932=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2926943	NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2926051	NM_002334.4(LRP4):c.1049-20C>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2925899	NM_002334.4(LRP4):c.1184-2A>G	LRP4	Single nucleotide variant (splice acceptor variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely pathogenic
Select item 2925835	NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2925012	NM_002334.4(LRP4):c.513C>T (p.Thr171=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2924745	NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2924563	NM_002334.4(LRP4):c.548-19A>T	LRP4	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2923922	NM_002334.4(LRP4):c.183C>T (p.Ser61=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2923903	NM_002334.4(LRP4):c.4838-8G>A	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2923840	NM_002334.4(LRP4):c.408C>T (p.Gly136=)	LRP4	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2923292	NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2923165	NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2923140	NM_002334.4(LRP4):c.762G>A (p.Ala254=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2923089	NM_002334.4(LRP4):c.135C>T (p.Ile45=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922936	NM_002334.4(LRP4):c.922+13G>C	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922874	NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922590	NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)	LRP4, LRP4-AS1 (P1559L)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2922575	NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant +1 more)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922546	NM_002334.4(LRP4):c.5386-4C>G	LRP4, LRP4-AS1	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922465	NM_002334.4(LRP4):c.2895C>G (p.Thr965=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922365	NM_002334.4(LRP4):c.1074C>T (p.Cys358=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2922332	NM_002334.4(LRP4):c.786G>A (p.Glu262=)	LRP4	Single nucleotide variant (synonymous variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2921833	NM_002334.4(LRP4):c.1850del (p.Ala617fs)	LRP4 (A617fs)	Deletion (frameshift variant)	Cenani-Lenz syndactyly syndrome +2 more	GPathogenic
Select item 2921583	NM_002334.4(LRP4):c.923-11C>T	LRP4	Single nucleotide variant (intron variant)	Cenani-Lenz syndactyly syndrome +2 more	GLikely benign
Select item 2687873	NM_002334.4(LRP4):c.2814+1G>A	LRP4	Single nucleotide variant (splice donor variant)	Cenani-Lenz syndactyly syndrome	GLikely pathogenic
Select item 2628342	NM_002334.4(LRP4):c.694C>A (p.Arg232Ser)	LRP4 (R232S)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome	GUncertain significance
Select item 2424405	NC_000011.9:g.(?_46880534)_(46918565_?)dup	LRP4	Duplication	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2421389	NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)	LRP4, LRP4-AS1	Single nucleotide variant (synonymous variant)	Sclerosteosis 2 +3 more	GLikely benign
Select item 2421246	NM_002334.4(LRP4):c.796+7G>A	LRP4	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2420893	NM_002334.4(LRP4):c.2506+8T>C	LRP4	Single nucleotide variant (intron variant)	Sclerosteosis 2 +2 more	GLikely benign
Select item 2420378	NM_002334.4(LRP4):c.3699+9C>A	LRP4	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 17 +2 more	GLikely benign
Select item 2419999	NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)	LRP4 (H619Y)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 2419861	NM_002334.4(LRP4):c.1110G>T (p.Gln370His)	LRP4 (Q370H)	Single nucleotide variant (missense variant)	Sclerosteosis 2 +2 more	GUncertain significance
Select item 2418484	NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)	LRP4 (R973Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 17 +2 more	GUncertain significance
Select item 2418341	NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)	LRP4 (A971T)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance
Select item 2417061	NM_002334.4(LRP4):c.1714G>A (p.Asp572Asn)	LRP4 (D572N)	Single nucleotide variant (missense variant)	Cenani-Lenz syndactyly syndrome +2 more	GUncertain significance

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