SORL1[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 566

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1545351	NM_003105.6(SORL1):c.286-4801T>G	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1952537	NM_003105.6(SORL1):c.286-14T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795660	NM_003105.6(SORL1):c.292C>T (p.Leu98=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577344	NM_003105.6(SORL1):c.296A>G (p.Asn99Ser)	SORL1 (N99S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 426729	NM_003105.6(SORL1):c.314T>C (p.Met105Thr)	SORL1 (M105T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407670	NM_003105.6(SORL1):c.346G>A (p.Val116Met)	SORL1 (V116M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603017	NM_003105.6(SORL1):c.351C>T (p.Ile117=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334165	NM_003105.6(SORL1):c.352G>A (p.Val118Met)	SORL1 (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307869	NM_003105.6(SORL1):c.383C>T (p.Ala128Val)	SORL1 (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2998199	NM_003105.6(SORL1):c.397A>G (p.Ser133Gly)	SORL1 (S133G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642469	NM_003105.6(SORL1):c.528+2499T>A	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642470	NM_003105.6(SORL1):c.528+2503G>A	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642471	NM_003105.6(SORL1):c.528+2656A>G	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642472	NM_003105.6(SORL1):c.528+2896T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642473	NM_003105.6(SORL1):c.528+3213T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642474	NM_003105.6(SORL1):c.528+3267T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642475	NM_003105.6(SORL1):c.528+3290T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694652	NM_003105.6(SORL1):c.528+3528G>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2642476	NM_003105.6(SORL1):c.528+3773A>C	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2032077	NM_003105.6(SORL1):c.529-15T>G	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622452	NM_003105.6(SORL1):c.529-8C>T	SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2085528	NM_003105.6(SORL1):c.543C>T (p.Asp181=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716001	NM_003105.6(SORL1):c.548A>G (p.Tyr183Cys)	SORL1 (Y183C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375169	NM_003105.6(SORL1):c.550G>A (p.Ala184Thr)	SORL1 (A184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642477	NM_003105.6(SORL1):c.552C>T (p.Ala184=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987471	NM_003105.6(SORL1):c.569C>T (p.Thr190Met)	SORL1 (T190M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886111	NM_003105.6(SORL1):c.584A>G (p.Asn195Ser)	SORL1 (N195S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1463579	NM_003105.6(SORL1):c.595G>C (p.Gly199Arg)	SORL1 (G199R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600544	NM_003105.6(SORL1):c.613C>T (p.Arg205Trp)	SORL1 (R205W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2888988	NM_003105.6(SORL1):c.614G>A (p.Arg205Gln)	SORL1 (R205Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967684	NM_003105.6(SORL1):c.633A>G (p.Leu211=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788604	NM_003105.6(SORL1):c.638G>A (p.Ser213Asn)	SORL1 (S213N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3167623	NM_003105.6(SORL1):c.671G>C (p.Arg224Thr)	SORL1 (R224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240295	NM_003105.6(SORL1):c.684C>G (p.Asn228Lys)	SORL1 (N228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715583	NM_003105.6(SORL1):c.690+8G>A	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967034	NM_003105.6(SORL1):c.691-15C>A	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178122	NM_003105.6(SORL1):c.691-10G>T	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3167624	NM_003105.6(SORL1):c.698A>G (p.Lys233Arg)	SORL1 (K233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049956	NM_003105.6(SORL1):c.759-9_759-8dup	SORL1	Duplication (intron variant)	SORL1-related disorder	GLikely benign
Select item 1610409	NM_003105.6(SORL1):c.759-8del	SORL1	Deletion (intron variant)	not provided	GBenign
Select item 1209898	NM_003105.6(SORL1):c.759-7C>T	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724291	NM_003105.6(SORL1):c.759-5G>T	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012365	NM_003105.6(SORL1):c.773A>G (p.Tyr258Cys)	SORL1 (Y258C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337610	NM_003105.6(SORL1):c.775G>T (p.Asp259Tyr)	SORL1 (D259Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495832	NM_003105.6(SORL1):c.791T>C (p.Ile264Thr)	SORL1 (I264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2468102	NM_003105.6(SORL1):c.797T>C (p.Ile266Thr)	SORL1 (I266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2735780	NM_003105.6(SORL1):c.802C>T (p.Arg268Ter)	SORL1 (R268*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1441551	NM_003105.6(SORL1):c.807_808inv (p.Glu270Lys)	SORL1 (E270K)	Inversion (missense variant)	not provided	GLikely benign
Select item 1209921	NM_003105.6(SORL1):c.807T>C (p.His269=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1209973	NM_003105.6(SORL1):c.808G>A (p.Glu270Lys)	SORL1 (E270K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3167625	NM_003105.6(SORL1):c.849C>A (p.Phe283Leu)	SORL1 (F283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1352608	NM_003105.6(SORL1):c.859C>T (p.Arg287Trp)	SORL1 (R287W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439318	NM_003105.6(SORL1):c.862del (p.Glu288fs)	SORL1 (E288fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2121381	NM_003105.6(SORL1):c.883G>A (p.Glu295Lys)	SORL1 (E295K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2735781	NM_003105.6(SORL1):c.907C>T (p.Arg303Trp)	SORL1 (R303W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3321525	NM_003105.6(SORL1):c.908G>A (p.Arg303Gln)	SORL1 (R303Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1452991	NM_003105.6(SORL1):c.919del (p.Met307fs)	SORL1 (M307fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2984125	NM_003105.6(SORL1):c.920T>G (p.Met307Arg)	SORL1 (M307R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971620	NM_003105.6(SORL1):c.940-16T>A	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184725	NM_003105.6(SORL1):c.970G>C (p.Val324Leu)	SORL1 (V324L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546526	NM_003105.6(SORL1):c.1004T>C (p.Met335Thr)	SORL1 (M335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1399542	NM_003105.6(SORL1):c.1013C>T (p.Ala338Val)	SORL1 (A338V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1914355	NM_003105.6(SORL1):c.1030C>T (p.His344Tyr)	SORL1 (H344Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754463	NM_003105.6(SORL1):c.1041+5G>A	SORL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2046016	NM_003105.6(SORL1):c.1042-8T>C	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069117	NM_003105.6(SORL1):c.1065C>T (p.Ser355=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400263	NM_003105.6(SORL1):c.1066G>A (p.Glu356Lys)	SORL1 (E356K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167594	NM_003105.6(SORL1):c.1075G>C (p.Val359Leu)	SORL1 (V359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1400115	NM_003105.6(SORL1):c.1106G>A (p.Arg369His)	SORL1 (R369H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545111	NM_003105.6(SORL1):c.1107C>G (p.Arg369=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717155	NM_003105.6(SORL1):c.1112A>C (p.Asn371Thr)	SORL1 (N371T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2799866	NM_003105.6(SORL1):c.1129G>A (p.Ala377Thr)	SORL1 (A377T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473556	NM_003105.6(SORL1):c.1148C>T (p.Ser383Phe)	SORL1 (S383F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764862	NM_003105.6(SORL1):c.1165G>T (p.Val389Leu)	SORL1 (V389L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1986994	NM_003105.6(SORL1):c.1172A>G (p.Tyr391Cys)	SORL1 (Y391C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933737	NM_003105.6(SORL1):c.1186G>A (p.Gly396Arg)	SORL1 (G396R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642478	NM_003105.6(SORL1):c.1201A>C (p.Thr401Pro)	SORL1 (T401P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385139	NM_003105.6(SORL1):c.1202C>A (p.Thr401Asn)	SORL1 (T401N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3238954	NM_003105.6(SORL1):c.1211+1G>A	SORL1	Single nucleotide variant (splice donor variant)	Complex hereditary spastic paraplegia	GPathogenic
Select item 1934641	NM_003105.6(SORL1):c.1214A>C (p.Tyr405Ser)	SORL1 (Y405S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345399	NM_003105.6(SORL1):c.1247G>T (p.Arg416Leu)	SORL1 (R416L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 870550	NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln)	SORL1 (R416Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 759260	NM_003105.6(SORL1):c.1266A>G (p.Gly422=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383174	NM_003105.6(SORL1):c.1312A>T (p.Met438Leu)	SORL1 (M438L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171687	NM_003105.6(SORL1):c.1320G>A (p.Ser440=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1439421	NM_003105.6(SORL1):c.1376C>A (p.Thr459Lys)	SORL1 (T459K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737747	NM_003105.6(SORL1):c.1376C>T (p.Thr459Met)	SORL1 (T459M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2400027	NM_003105.6(SORL1):c.1382A>G (p.Tyr461Cys)	SORL1 (Y461C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1541348	NM_003105.6(SORL1):c.1404+10C>G	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129717	NM_003105.6(SORL1):c.1405-4A>G	SORL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941575	NM_003105.6(SORL1):c.1417T>C (p.Cys473Arg)	SORL1 (C473R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491070	NM_003105.6(SORL1):c.1420T>C (p.Ser474Pro)	SORL1 (S474P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178349	NM_003105.6(SORL1):c.1432G>C (p.Ala478Pro)	SORL1 (A478P)	Single nucleotide variant (missense variant)	Alzheimer disease 9	Grisk factor
Select item 2377455	NM_003105.6(SORL1):c.1439G>A (p.Arg480His)	SORL1 (R480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1524977	NM_003105.6(SORL1):c.1439G>C (p.Arg480Pro)	SORL1 (R480P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895978	NM_003105.6(SORL1):c.1457A>G (p.Asn486Ser)	SORL1 (N486S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950799	NM_003105.6(SORL1):c.1480A>T (p.Ile494Phe)	SORL1 (I494F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734581	NM_003105.6(SORL1):c.1484T>C (p.Leu495Pro)	SORL1 (L495P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776668	NM_003105.6(SORL1):c.1494G>A (p.Glu498=)	SORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1970712	NM_003105.6(SORL1):c.1507C>T (p.Leu503Phe)	SORL1 (L503F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 6