All variants in the SORL1 gene

Information The variants shown are described using the NM_003105.5 transcript reference sequence.

475 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.16A>T r.(?) p.(Ser6Cys) - likely benign g.121323056A>T g.121452347A>T SORL1(NM_003105.5):c.16A>T (p.S6C) - SORL1_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.201G>A r.(?) p.(Arg67=) - likely benign g.121323241G>A g.121452532G>A SORL1(NM_003105.5):c.201G>A (p.R67=) - SORL1_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.201G>C r.(?) p.(Arg67Ser) - likely benign g.121323241G>C g.121452532G>C SORL1(NM_003105.5):c.201G>C (p.R67S) - SORL1_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.227C>T r.(?) p.(Pro76Leu) - likely benign g.121323267C>T - SORL1(NM_003105.5):c.227C>T (p.(Pro76Leu)) - SORL1_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.237G>A r.(?) p.(Arg79=) - benign g.121323277G>A g.121452568G>A SORL1(NM_003105.5):c.237G>A (p.R79=) - SORL1_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.237G>A r.(?) p.(Arg79=) - likely benign g.121323277G>A g.121452568G>A SORL1(NM_003105.5):c.237G>A (p.R79=) - SORL1_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.302C>T r.(?) p.(Ser101Phe) - likely pathogenic g.121340732C>T g.121470023C>T - - SORL1_000008 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
-?/. 2 c.345C>T r.(?) p.(=) - likely benign g.121340775C>T g.121470066C>T - - SORL1_000009 - Journal: Holstege 2017 - rs78397535 Germline - 1/640 cases - - - Henne Holstege
-/. 2i c.403-3C>G r.(?) p.(=) - benign g.121348824C>G g.121478115C>G - - SORL1_000010 - Journal: Holstege 2017 - - Germline - 1/640 cases - - - Henne Holstege
-?/. 3 c.418G>A r.(?) p.(Asp140Asn) - likely benign g.121348842G>A g.121478133G>A - - SORL1_000011 VPS10; BNR 1 Journal: Holstege 2017 - rs140888526 Germline - 2/1268 controls - - - Henne Holstege
?/. - c.418G>A r.(?) p.(Asp140Asn) - VUS g.121348842G>A g.121478133G>A SORL1(NM_003105.5):c.418G>A (p.D140N) - SORL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 c.420C>A r.(?) p.(Asp140Glu) - VUS g.121348844C>A g.121478135C>A - - SORL1_000012 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
?/. 3 c.420C>A r.(?) p.(Asp140Glu) - VUS g.121348844C>A g.121478135C>A - - SORL1_000012 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1938 controls - - - Johan den Dunnen
+/. 3 c.422A>G r.(?) p.(Tyr141Cys) - pathogenic g.121348846A>G g.121478137A>G - - SORL1_000001 not in 1500 controls PubMed: Pottier 2012, Journal: Pottier 2012 - - Germline - - - - - Johan den Dunnen
?/. 3 c.436A>C r.(?) p.(Lys146Gln) - VUS g.121348860A>C g.121478151A>C - - SORL1_000013 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
?/. - c.515C>T r.(?) p.(Ala172Val) - VUS g.121348939C>T g.121478230C>T SORL1(NM_003105.5):c.515C>T (p.A172V) - SORL1_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.515C>T r.(?) p.(Ala172Val) - likely benign g.121348939C>T g.121478230C>T SORL1(NM_003105.5):c.515C>T (p.A172V) - SORL1_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 4 c.572T>C r.(?) p.(Phe191Ser) - likely benign g.121358784T>C g.121488075T>C - - SORL1_000014 VPS10 Journal: Holstege 2017 - rs376227818 Germline - 1/1268 controls - - - Henne Holstege
-?/. - c.606C>A r.(?) p.(Ile202=) - likely benign g.121358818C>A - SORL1(NM_003105.5):c.606C>A (p.I202=) - SORL1_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 c.614G>A r.(?) p.(Arg205Gln) - likely benign g.121358826G>A g.121488117G>A - - SORL1_000015 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1938 controls - - - Johan den Dunnen
-?/. - c.759-9_759-8del r.(=) p.(=) - likely benign g.121367569_121367570del g.121496860_121496861del SORL1(NM_003105.5):c.759-9_759-8delTT - SORL1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.759-8del r.(=) p.(=) - benign g.121367570del g.121496861del SORL1(NM_003105.5):c.759-8delT - SORL1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.759-8dup r.(=) p.(=) - benign g.121367570dup g.121496861dup SORL1(NM_003105.5):c.759-8dupT - SORL1_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.759-7C>T r.(=) p.(=) - likely benign g.121367571C>T g.121496862C>T SORL1(NM_003105.5):c.759-7C>T - SORL1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.759-7C>T r.(=) p.(=) - likely benign g.121367571C>T g.121496862C>T SORL1(NM_003105.5):c.759-7C>T - SORL1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.759-5G>T r.spl? p.? - likely benign g.121367573G>T g.121496864G>T SORL1(NM_003105.5):c.759-5G>T - SORL1_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.759-5G>T r.spl? p.? - likely benign g.121367573G>T g.121496864G>T SORL1(NM_003105.5):c.759-5G>T - SORL1_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 6 c.807T>C r.(=) p.(=) - benign g.121367626T>C g.121496917T>C - - SORL1_000016 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs12364988 Germline - 1280/1255 cases - - - Johan den Dunnen
-/. 6 c.807T>C r.(=) p.(=) - benign g.121367626T>C g.121496917T>C - - SORL1_000016 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs12364988 Germline - 1822/1938 controls - - - Johan den Dunnen
-/. 6 c.807T>C r.(?) p.(=) - benign g.121367626T>C g.121496917T>C - - SORL1_000016 VPS10 Journal: Holstege 2017 - rs12364988 Germline - 313/1268 controls - - - Henne Holstege
-/. 6 c.807T>C r.(?) p.(=) - benign g.121367626T>C g.121496917T>C - - SORL1_000016 VPS10 Journal: Holstege 2017 - rs12364988 Germline - 647/1268 controls - - - Henne Holstege
-/. 6 c.807T>C r.(?) p.(=) - benign g.121367626T>C g.121496917T>C - - SORL1_000016 VPS10 Journal: Holstege 2017 - rs12364988 Germline - 155/640 cases - - - Henne Holstege
-/. 6 c.807T>C r.(?) p.(=) - benign g.121367626T>C g.121496917T>C - - SORL1_000016 VPS10 Journal: Holstege 2017 - rs12364988 Germline - 318/640 cases - - - Henne Holstege
-/. - c.807T>C r.(?) p.(His269=) - benign g.121367626T>C g.121496917T>C SORL1(NM_003105.5):c.807T>C (p.H269=) - SORL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.807T>C r.(?) p.(His269=) - benign g.121367626T>C g.121496917T>C SORL1(NM_003105.5):c.807T>C (p.H269=) - SORL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 6 c.808G>A r.(?) p.(Glu270Lys) - likely benign g.121367627G>A g.121496918G>A - - SORL1_000017 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs117260922 Germline - 116/1938 controls - - - Johan den Dunnen
?/. 6 c.808G>A r.(?) p.(Glu270Lys) - likely benign g.121367627G>A g.121496918G>A - - SORL1_000017 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs117260922 Germline - 50/1255 cases - - - Johan den Dunnen
?/. 6 c.808G>A r.(?) p.(Glu270Lys) - likely benign g.121367627G>A g.121496918G>A - - SORL1_000017 VPS10 Journal: Holstege 2017 - rs117260922 Germline - 2/1268 controls - - - Henne Holstege
?/. 6 c.808G>A r.(?) p.(Glu270Lys) - likely benign g.121367627G>A g.121496918G>A - - SORL1_000017 VPS10 Journal: Holstege 2017 - rs117260922 Germline - 42/1268 controls - - - Henne Holstege
?/. 6 c.808G>A r.(?) p.(Glu270Lys) - likely benign g.121367627G>A g.121496918G>A - - SORL1_000017 VPS10 Journal: Holstege 2017 - rs117260922 Germline - 17/640 cases - - - Henne Holstege
-/. - c.808G>A r.(?) p.(Glu270Lys) - benign g.121367627G>A g.121496918G>A SORL1(NM_003105.5):c.808G>A (p.E270K) - SORL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.808G>A r.(?) p.(Glu270Lys) - benign g.121367627G>A g.121496918G>A SORL1(NM_003105.5):c.808G>A (p.E270K) - SORL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.835C>T r.(?) p.(Arg279Ter) - likely pathogenic g.121367654C>T g.121496945C>T SORL1(NM_003105.5):c.835C>T (p.R279*) - SORL1_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 6 c.907C>T r.(?) p.(Arg303Trp) - likely pathogenic g.121367726C>T g.121497017C>T - - SORL1_000018 VPS10 Journal: Holstege 2017 - rs372363423 Germline - 1/1268 controls - - - Henne Holstege
+?/. 6 c.907C>T r.(?) p.(Arg303Trp) - likely pathogenic g.121367726C>T g.121497017C>T - - SORL1_000018 VPS10 Journal: Holstege 2017 - rs372363423 Germline - 1/640 cases - - - Henne Holstege
?/. 6 c.919A>G r.(?) p.(Met307Val) - VUS g.121367738A>G g.121497029A>G - - SORL1_000019 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
-?/. 7 c.941A>T r.(?) p.(His314Leu) - likely benign g.121383713A>T g.121513004A>T - - SORL1_000020 VPS10 Journal: Holstege 2017 - rs780440355 Germline - 1/1268 controls - - - Henne Holstege
-?/. 7 c.970G>C r.(?) p.(Val324Leu) - likely benign g.121383742G>C g.121513033G>C - - SORL1_000021 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs541387363 Germline - 1/1938 controls - - - Johan den Dunnen
-?/. 7 c.970G>C r.(?) p.(Val324Leu) - likely benign g.121383742G>C g.121513033G>C - - SORL1_000021 VPS10 Journal: Holstege 2017 - rs541387363 Germline - 1/1268 controls - - - Henne Holstege
-?/. 7 c.970G>C r.(?) p.(Val324Leu) - likely benign g.121383742G>C g.121513033G>C - - SORL1_000021 VPS10 Journal: Holstege 2017 - rs541387363 Germline - 1/640 cases - - - Henne Holstege
+?/. 7 c.994C>T r.(?) p.(Arg332Trp) - likely pathogenic g.121383766C>T g.121513057C>T - - SORL1_000022 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 2/1255 cases - - - Johan den Dunnen
?/. 7i c.1041+34A>G r.(?) p.(=) - VUS g.121383847A>G g.121513138A>G - - SORL1_000023 - Journal: Holstege 2017 - - Germline - 1 - - - Henne Holstege
+/. 8 c.1050_1057del r.(?) p.(Tyr350*) - pathogenic g.121384869_121384876del g.121514160_121514167del 1050_1057del CATCGCAG - SORL1_000024 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
-?/. 8 c.1053C>T r.(?) p.(=) - likely benign g.121384872C>T g.121514163C>T - - SORL1_000025 VPS10 Journal: Holstege 2017 - - Germline - 1/640 cases - - - Henne Holstege
-?/. 8 c.1065C>T r.(?) p.(=) - likely benign g.121384884C>T g.121514175C>T - - SORL1_000026 VPS10 Journal: Holstege 2017 - rs142899731 Germline - 1/640 cases - - - Henne Holstege
-?/. - c.1099A>G r.(?) p.(Asn367Asp) - likely benign g.121384918A>G g.121514209A>G SORL1(NM_003105.5):c.1099A>G (p.N367D) - SORL1_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1106G>A r.(?) p.(Arg369His) - likely benign g.121384925G>A g.121514216G>A SORL1(NM_003105.5):c.1106G>A (p.R369H) - SORL1_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 8 c.1112A>C r.(?) p.(Asn371Thr) - likely benign g.121384931A>C g.121514222A>C - - SORL1_000027 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs150609294 Germline - 4/1255 cases - - - Johan den Dunnen
-?/. 8 c.1112A>C r.(?) p.(Asn371Thr) - likely benign g.121384931A>C g.121514222A>C - - SORL1_000027 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs150609294 Germline - 6/1255 cases - - - Johan den Dunnen
-?/. 8 c.1112A>C r.(?) p.(Asn371Thr) - likely benign g.121384931A>C g.121514222A>C - - SORL1_000027 VPS10 Journal: Holstege 2017 - rs150609294 Germline - 5/1268 controls - - - Henne Holstege
-?/. 8 c.1112A>C r.(?) p.(Asn371Thr) - likely benign g.121384931A>C g.121514222A>C - - SORL1_000027 VPS10 Journal: Holstege 2017 - rs150609294 Germline - 3/640 cases - - - Henne Holstege
?/. - c.1112A>C r.(?) p.(Asn371Thr) - VUS g.121384931A>C g.121514222A>C SORL1(NM_003105.5):c.1112A>C (p.N371T) - SORL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1112A>C r.(?) p.(Asn371Thr) - likely benign g.121384931A>C g.121514222A>C SORL1(NM_003105.5):c.1112A>C (p.N371T) - SORL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1157T>C r.(?) p.(Leu386Ser) - VUS g.121384976T>C - SORL1(NM_003105.5):c.1157T>C (p.L386S) - SORL1_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 8 c.1172A>G r.(?) p.(Tyr391Cys) - likely benign g.121384991A>G g.121514282A>G - - SORL1_000028 VPS10 Journal: Holstege 2017 - rs139710266 Germline - 1/640 cases - - - Henne Holstege
?/. - c.1172A>G r.(?) p.(Tyr391Cys) - VUS g.121384991A>G g.121514282A>G SORL1(NM_003105.5):c.1172A>G (p.Y391C) - SORL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1228_1229insAAATGCAAATGAAGTCAG r.(?) p.(Pro410delinsGlnMetGlnMetLysSerAla) - VUS g.121391382_121391383insAAATGCAAATGAAGTCAG g.121520673_121520674insAAATGCAAATGAAGTCAG SORL1(NM_003105.5):c.1228_1229insAAATGCAAATGAAGTCAG (p.P410delins7) - SORL1_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 9 c.1246C>T r.(?) p.(Arg416*) - pathogenic g.121391400C>T g.121520691C>T - - SORL1_000029 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
-?/. - c.1320G>A r.(?) p.(Ser440=) - likely benign g.121391474G>A - SORL1(NM_003105.5):c.1320G>A (p.S440=) - SORL1_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 9 c.1338dup r.(?) p.(Gly447Argfs*22) - pathogenic g.121391492dup g.121520783dup 1338insA - SORL1_000030 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
-?/. 9 c.1376C>A r.(?) p.(Thr459Lys) - likely benign g.121391530C>A g.121520821C>A - - SORL1_000031 VPS10 Journal: Holstege 2017 - rs183081520 Germline - 1/640 cases - - - Henne Holstege
-/. 9i c.1404+5T>C r.(?) p.(=) - benign g.121391563T>C g.121520854T>C - - SORL1_000032 - Journal: Holstege 2017 - - Germline - 1/1268 controls - - - Henne Holstege
+?/. 10 c.1421C>G r.(?) p.(Ser474Cys) - likely pathogenic g.121393311C>G g.121522602C>G - - SORL1_000033 VPS10 Journal: Holstege 2017 - - Germline - 1/1268 controls - - - Henne Holstege
+?/. 10 c.1438C>T r.(?) p.(Arg480Cys) - likely pathogenic g.121393328C>T g.121522619C>T - - SORL1_000034 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
-?/. - c.1438C>T r.(?) p.(Arg480Cys) - likely benign g.121393328C>T g.121522619C>T SORL1(NM_003105.5):c.1438C>T (p.R480C) - SORL1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 10 c.1522G>A r.(?) p.(Gly508Ser) - likely pathogenic g.121393412G>A g.121522703G>A - - SORL1_000035 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
-?/. 10i c.1523-47C>A r.(?) p.(=) - likely benign g.121393578C>A g.121522869C>A - - SORL1_000036 - Journal: Holstege 2017 - rs371311928 Germline - 2/1268 controls - - - Henne Holstege
?/. 10i c.1523-29T>G r.(?) p.(=) - VUS g.121393596T>G g.121522887T>G - - SORL1_000037 - Journal: Holstege 2017 - rs375003535 Germline - 1 - - - Henne Holstege
+/. 11 c.1531G>C r.(?) p.(Gly511Arg) - pathogenic g.121393633G>C g.121522924G>C - - SORL1_000002 not in 1500 controls PubMed: Pottier 2012, Journal: Pottier 2012 - - Germline yes - - - - Johan den Dunnen
+?/. 11 c.1531G>C r.(?) p.(Gly511Arg) - likely pathogenic g.121393633G>C g.121522924G>C - - SORL1_000002 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1255 cases - - - Johan den Dunnen
?/. - c.1580_1582dup r.(?) p.(Gly527dup) - VUS g.121393682_121393684dup - SORL1(NM_003105.5):c.1580_1582dupGAG (p.G527dup) - SORL1_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 11 c.1582G>A r.(?) p.(Ala528Thr) - likely benign g.121393684G>A g.121522975G>A - - SORL1_000038 VPS10; BNR 4 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs2298813 Germline - 150/1255 cases - - - Johan den Dunnen
-?/. 11 c.1582G>A r.(?) p.(Ala528Thr) - likely benign g.121393684G>A g.121522975G>A - - SORL1_000038 VPS10; BNR 4 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs2298813 Germline - 194/1938 controls - - - Johan den Dunnen
-?/. 11 c.1582G>A r.(?) p.(Ala528Thr) - likely benign g.121393684G>A g.121522975G>A - - SORL1_000038 VPS10; BNR 4 Journal: Holstege 2017 - rs2298813 Germline - 3/1268 controls - - - Henne Holstege
-?/. 11 c.1582G>A r.(?) p.(Ala528Thr) - likely benign g.121393684G>A g.121522975G>A - - SORL1_000038 VPS10; BNR 4 Journal: Holstege 2017 - rs2298813 Germline - 100/1268 controls - - - Henne Holstege
-?/. 11 c.1582G>A r.(?) p.(Ala528Thr) - likely benign g.121393684G>A g.121522975G>A - - SORL1_000038 VPS10; BNR 4 Journal: Holstege 2017 - rs2298813 Germline - 4/640 cases - - - Henne Holstege
-?/. 11 c.1582G>A r.(?) p.(Ala528Thr) - likely benign g.121393684G>A g.121522975G>A - - SORL1_000038 VPS10; BNR 4 Journal: Holstege 2017 - rs2298813 Germline - 44/640 cases - - - Henne Holstege
-/. - c.1582G>A r.(?) p.(Ala528Thr) - benign g.121393684G>A g.121522975G>A SORL1(NM_003105.5):c.1582G>A (p.A528T) - SORL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1582G>A r.(?) p.(Ala528Thr) - benign g.121393684G>A g.121522975G>A SORL1(NM_003105.5):c.1582G>A (p.A528T) - SORL1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 11i c.1596+16C>T r.(?) p.(=) - VUS g.121393714C>T g.121523005C>T - - SORL1_000039 - Journal: Holstege 2017 - rs746124531 Germline - 1 - - - Henne Holstege
-/. - c.1653= r.(=) p.(Ala551=) - benign g.121403229T>C g.121532520= SORL1(NM_003105.5):c.1653T>C (p.A551=) - SORL1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1653= r.(=) p.(Ala551=) - benign g.121403229T>C g.121532520= SORL1(NM_003105.5):c.1653T>C (p.A551=) - SORL1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 12 c.1654A>G r.(?) p.(Ile552Val) - benign g.121403230A>G g.121532521A>G - - SORL1_000040 VPS10 Journal: Holstege 2017 - rs188600397 Germline - 1/1268 controls - - - Henne Holstege
-?/. 12 c.1678G>A r.(?) p.(Glu560Lys) - likely benign g.121403254G>A g.121532545G>A - - SORL1_000041 VPS10 PubMed: Verheijen 2016, Journal: Verheijen 2016 - rs150303243 Germline - 1/1255 cases - - - Johan den Dunnen
-?/. 12 c.1678G>A r.(?) p.(Glu560Lys) - likely benign g.121403254G>A g.121532545G>A - - SORL1_000041 VPS10 Journal: Holstege 2017 - rs150303243 Germline - 1/640 cases - - - Henne Holstege
-?/. - c.1678G>A r.(?) p.(Glu560Lys) - likely benign g.121403254G>A g.121532545G>A SORL1(NM_003105.5):c.1678G>A (p.E560K) - SORL1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 12i c.1686-28A>T r.(?) p.(=) - VUS g.121414229A>T g.121543520A>T - - SORL1_000042 - Journal: Holstege 2017 - rs755200777 Germline - 1 - - - Henne Holstege
-?/. 13 c.1729T>C r.(?) p.(Ser577Pro) - likely benign g.121414300T>C g.121543591T>C - - SORL1_000043 - PubMed: Verheijen 2016, Journal: Verheijen 2016 - - Germline - 1/1938 controls - - - Johan den Dunnen
-?/. - c.1729T>C r.(?) p.(Ser577Pro) - likely benign g.121414300T>C g.121543591T>C SORL1(NM_003105.5):c.1729T>C (p.S577P) - SORL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1729T>C r.(?) p.(Ser577Pro) - VUS g.121414300T>C - SORL1(NM_003105.5):c.1729T>C (p.S577P) - SORL1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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