SORL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	ABCG4, ACRV1 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 151354	GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	ACRV1, ARHGEF12 +255 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 145002	GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	ARHGEF12, BLID +184 more	Copy number loss	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 151345	GRCh38/hg38 11q23.3-24.1(chr11:121248538-121592523)x3	LOC105369535, LOC114803469 +32 more	Copy number gain	See cases	GLikely benign
Select item 1049388	NC_000011.10:g.121448322T>C	SORL1, SORL1-AS1	Single nucleotide variant	not provided	GUncertain significance
Select item 3167595	NM_003105.6(SORL1):c.15C>A (p.Ser5Arg)	SORL1, SORL1-AS1 (S5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081081	NM_003105.6(SORL1):c.17G>C (p.Ser6Thr)	SORL1, SORL1-AS1 (S6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462874	NM_003105.6(SORL1):c.29C>T (p.Ser10Leu)	SORL1, SORL1-AS1 (S10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196018	NM_003105.6(SORL1):c.32G>C (p.Arg11Pro)	SORL1, SORL1-AS1 (R11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3167607	NM_003105.6(SORL1):c.40T>G (p.Phe14Val)	SORL1, SORL1-AS1 (F14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1641917	NM_003105.6(SORL1):c.63G>A (p.Leu21=)	LOC130006943, SORL1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2217042	NM_003105.6(SORL1):c.68C>T (p.Pro23Leu)	LOC130006943, SORL1 +1 more (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2724134	NM_003105.6(SORL1):c.76G>C (p.Ala26Pro)	SORL1, LOC130006943 +1 more (A26P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921695	NM_003105.6(SORL1):c.104T>G (p.Leu35Arg)	SORL1, SORL1-AS1 (L35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2250780	NM_003105.6(SORL1):c.106C>T (p.His36Tyr)	SORL1, SORL1-AS1 (H36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1937505	NM_003105.6(SORL1):c.112G>A (p.Gly38Ser)	SORL1, SORL1-AS1 (G38S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909523	NM_003105.6(SORL1):c.133G>T (p.Asp45Tyr)	SORL1, SORL1-AS1 (D45Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532873	NM_003105.6(SORL1):c.136C>G (p.Arg46Gly)	SORL1, SORL1-AS1 (R46G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1509841	NM_003105.6(SORL1):c.137G>C (p.Arg46Pro)	SORL1-AS1, SORL1 (R46P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989257	NM_003105.6(SORL1):c.160G>C (p.Asp54His)	SORL1, SORL1-AS1 (D54H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895067	NM_003105.6(SORL1):c.201G>T (p.Arg67Ser)	SORL1, SORL1-AS1 (R67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394881	NM_003105.6(SORL1):c.201G>C (p.Arg67Ser)	SORL1, SORL1-AS1 (R67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927206	NM_003105.6(SORL1):c.209G>C (p.Ser70Thr)	SORL1, SORL1-AS1 (S70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146944	NM_003105.6(SORL1):c.227C>T (p.Pro76Leu)	SORL1, SORL1-AS1 (P76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210033	NM_003105.6(SORL1):c.237G>A (p.Arg79=)	SORL1, SORL1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2494893	NM_003105.6(SORL1):c.257A>G (p.Gln86Arg)	SORL1, SORL1-AS1 (Q86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1717787	NM_003105.6(SORL1):c.275T>C (p.Val92Ala)	SORL1, SORL1-AS1 (V92A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2315904	NM_003105.6(SORL1):c.283C>G (p.Gln95Glu)	SORL1, SORL1-AS1 (Q95E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1936071	NM_003105.6(SORL1):c.285+19C>T	SORL1, SORL1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796175	NM_003105.6(SORL1):c.285+20G>T	SORL1, SORL1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1638790	NM_003105.6(SORL1):c.403-18del	LOC105369535, SORL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2980929	NM_003105.6(SORL1):c.403-3C>T	LOC105369535, SORL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2078422	NM_003105.6(SORL1):c.403-3C>G	LOC105369535, SORL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2775976	NM_003105.6(SORL1):c.406T>C (p.Tyr136His)	LOC105369535, SORL1 (Y136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1458680	NM_003105.6(SORL1):c.408C>T (p.Tyr136=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595481	NM_003105.6(SORL1):c.409G>A (p.Val137Met)	LOC105369535, SORL1 (V137M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1416916	NM_003105.6(SORL1):c.418G>A (p.Asp140Asn)	LOC105369535, SORL1 (D140N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972253	NM_003105.6(SORL1):c.426A>T (p.Gly142=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515918	NM_003105.6(SORL1):c.441A>C (p.Lys147Asn)	LOC105369535, SORL1 (K147N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961816	NM_003105.6(SORL1):c.445T>G (p.Ser149Ala)	LOC105369535, SORL1 (S149A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916582	NM_003105.6(SORL1):c.492C>T (p.Ile164=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376438	NM_003105.6(SORL1):c.493G>A (p.Ala165Thr)	LOC105369535, SORL1 (A165T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910301	NM_003105.6(SORL1):c.515C>T (p.Ala172Val)	LOC105369535, SORL1 (A172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915761	NM_003105.6(SORL1):c.516G>A (p.Ala172=)	LOC105369535, SORL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1599227	NM_003105.6(SORL1):c.528+18C>T	LOC105369535, SORL1	Single nucleotide variant (intron variant)	not provided	GBenign
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 provided +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

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