| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 23884 | single nucleotide variant | NM_000447.2(PSEN2):c.422A>T (p.Asn141Ile) | 63750215 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 227073304 | 227073304 | A | T |
| 23884 | single nucleotide variant | NM_000447.2(PSEN2):c.422A>T (p.Asn141Ile) | 63750215 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 226885603 | 226885603 | A | T |
| 23885 | single nucleotide variant | NM_000447.2(PSEN2):c.715A>G (p.Met239Val) | 28936379 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 227076678 | 227076678 | A | G |
| 23885 | single nucleotide variant | NM_000447.2(PSEN2):c.715A>G (p.Met239Val) | 28936379 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 226888977 | 226888977 | A | G |
| 23886 | single nucleotide variant | NM_000447.2(PSEN2):c.1316A>C (p.Asp439Ala) | 63750110 | MedGen:C1847200,OMIM:606889;MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:CN221809 | 1 | 227083249 | 227083249 | A | C |
| 23886 | single nucleotide variant | NM_000447.2(PSEN2):c.1316A>C (p.Asp439Ala) | 63750110 | MedGen:C1847200,OMIM:606889;MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:CN221809 | 1 | 226895548 | 226895548 | A | C |
| 23887 | single nucleotide variant | NM_000447.2(PSEN2):c.1289C>T (p.Thr430Met) | 63750666 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 227083222 | 227083222 | C | T |
| 23887 | single nucleotide variant | NM_000447.2(PSEN2):c.1289C>T (p.Thr430Met) | 63750666 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 226895521 | 226895521 | C | T |
| 23888 | single nucleotide variant | NM_000447.2(PSEN2):c.364A>C (p.Thr122Pro) | 63749851 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 227073246 | 227073246 | A | C |
| 23888 | single nucleotide variant | NM_000447.2(PSEN2):c.364A>C (p.Thr122Pro) | 63749851 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 226885545 | 226885545 | A | C |
| 23889 | single nucleotide variant | NM_000447.2(PSEN2):c.717G>A (p.Met239Ile) | 63749884 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 227076680 | 227076680 | G | A |
| 23889 | single nucleotide variant | NM_000447.2(PSEN2):c.717G>A (p.Met239Ile) | 63749884 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 226888979 | 226888979 | G | A |
| 23890 | single nucleotide variant | NM_000447.2(PSEN2):c.365C>G (p.Thr122Arg) | 28936380 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 227073247 | 227073247 | C | G |
| 23890 | single nucleotide variant | NM_000447.2(PSEN2):c.365C>G (p.Thr122Arg) | 28936380 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 226885546 | 226885546 | C | G |
| 23891 | single nucleotide variant | NM_000447.2(PSEN2):c.389C>T (p.Ser130Leu) | 63750197 | MedGen:C1847200,OMIM:606889;MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:C3150958,OMIM:613697;MedGen:CN221809 | 1 | 227073271 | 227073271 | C | T |
| 23891 | single nucleotide variant | NM_000447.2(PSEN2):c.389C>T (p.Ser130Leu) | 63750197 | MedGen:C1847200,OMIM:606889;MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:C3150958,OMIM:613697;MedGen:CN221809 | 1 | 226885570 | 226885570 | C | T |
| 23892 | single nucleotide variant | NM_000447.2(PSEN2):c.254C>T (p.Ala85Val) | 63750048 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 227071518 | 227071518 | C | T |
| 23892 | single nucleotide variant | NM_000447.2(PSEN2):c.254C>T (p.Ala85Val) | 63750048 | MedGen:C1847200,OMIM:606889;MedGen:CN221809 | 1 | 226883817 | 226883817 | C | T |
| 103887 | single nucleotide variant | NM_000447.2(PSEN2):c.185G>A (p.Arg62His) | 58973334 | MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:CN239310;MedGen:CN043596;MedGen:CN221809 | 1 | 227071449 | 227071449 | G | A |
| 103887 | single nucleotide variant | NM_000447.2(PSEN2):c.185G>A (p.Arg62His) | 58973334 | MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:CN239310;MedGen:CN043596;MedGen:CN221809 | 1 | 226883748 | 226883748 | G | A |
| 103888 | single nucleotide variant | NM_000447.2(PSEN2):c.442G>A (p.Val148Ile) | 63750812 | MedGen:CN221809 | 1 | 227073324 | 227073324 | G | A |
| 103888 | single nucleotide variant | NM_000447.2(PSEN2):c.442G>A (p.Val148Ile) | 63750812 | MedGen:CN221809 | 1 | 226885623 | 226885623 | G | A |
| 103889 | single nucleotide variant | NM_000447.2(PSEN2):c.683A>T (p.Gln228Leu) | 63750880 | MedGen:CN221809 | 1 | 227076646 | 227076646 | A | T |
| 103889 | single nucleotide variant | NM_000447.2(PSEN2):c.683A>T (p.Gln228Leu) | 63750880 | MedGen:CN221809 | 1 | 226888945 | 226888945 | A | T |
| 103890 | single nucleotide variant | NM_000447.2(PSEN2):c.1001C>G (p.Pro334Arg) | 63750207 | MedGen:CN221809 | 1 | 227079474 | 227079474 | C | G |
| 103890 | single nucleotide variant | NM_000447.2(PSEN2):c.1001C>G (p.Pro334Arg) | 63750207 | MedGen:CN221809 | 1 | 226891773 | 226891773 | C | G |
| 178440 | single nucleotide variant | NM_000447.2(PSEN2):c.149A>G (p.Gln50Arg) | 143501870 | MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 | 1 | 227071413 | 227071413 | A | G |
| 178440 | single nucleotide variant | NM_000447.2(PSEN2):c.149A>G (p.Gln50Arg) | 143501870 | MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 | 1 | 226883712 | 226883712 | A | G |
| 189385 | single nucleotide variant | NM_000447.2(PSEN2):c.25A>G (p.Ser9Gly) | 786205285 | MedGen:CN221809 | 1 | 226881932 | 226881932 | A | G |
| 189385 | single nucleotide variant | NM_000447.2(PSEN2):c.25A>G (p.Ser9Gly) | 786205285 | MedGen:CN221809 | 1 | 227069633 | 227069633 | A | G |
| 189386 | single nucleotide variant | NM_000447.2(PSEN2):c.49C>T (p.Arg17Trp) | 199644116 | MedGen:CN221809 | 1 | 227069657 | 227069657 | C | T |
| 189386 | single nucleotide variant | NM_000447.2(PSEN2):c.49C>T (p.Arg17Trp) | 199644116 | MedGen:CN221809 | 1 | 226881956 | 226881956 | C | T |
| 189387 | single nucleotide variant | NM_000447.2(PSEN2):c.166G>A (p.Gly56Ser) | 188598190 | MedGen:CN221809 | 1 | 227071430 | 227071430 | G | A |
| 189387 | single nucleotide variant | NM_000447.2(PSEN2):c.166G>A (p.Gly56Ser) | 188598190 | MedGen:CN221809 | 1 | 226883729 | 226883729 | G | A |
| 189388 | single nucleotide variant | NM_000447.2(PSEN2):c.205C>G (p.Pro69Ala) | 202133351 | MedGen:CN221809 | 1 | 226883768 | 226883768 | C | G |
| 189388 | single nucleotide variant | NM_000447.2(PSEN2):c.205C>G (p.Pro69Ala) | 202133351 | MedGen:CN221809 | 1 | 227071469 | 227071469 | C | G |
| 189389 | single nucleotide variant | NM_000447.2(PSEN2):c.208G>A (p.Gly70Arg) | 139972151 | MedGen:CN221809 | 1 | 227071472 | 227071472 | G | A |
| 189389 | single nucleotide variant | NM_000447.2(PSEN2):c.208G>A (p.Gly70Arg) | 139972151 | MedGen:CN221809 | 1 | 226883771 | 226883771 | G | A |
| 189390 | single nucleotide variant | NM_000447.2(PSEN2):c.211C>T (p.Arg71Trp) | 140501902 | MedGen:CN169374 | 1 | 227071475 | 227071475 | C | T |
| 189390 | single nucleotide variant | NM_000447.2(PSEN2):c.211C>T (p.Arg71Trp) | 140501902 | MedGen:CN169374 | 1 | 226883774 | 226883774 | C | T |
| 189391 | single nucleotide variant | NM_000447.2(PSEN2):c.710C>T (p.Ala237Val) | 200670135 | MedGen:CN221809 | 1 | 227076673 | 227076673 | C | T |
| 189391 | single nucleotide variant | NM_000447.2(PSEN2):c.710C>T (p.Ala237Val) | 200670135 | MedGen:CN221809 | 1 | 226888972 | 226888972 | C | T |
| 189392 | single nucleotide variant | NM_000447.2(PSEN2):c.1139C>A (p.Thr380Lys) | 143912759 | MedGen:CN221809 | 1 | 227081774 | 227081774 | C | A |
| 189392 | single nucleotide variant | NM_000447.2(PSEN2):c.1139C>A (p.Thr380Lys) | 143912759 | MedGen:CN221809 | 1 | 226894073 | 226894073 | C | A |
| 249746 | single nucleotide variant | NM_000447.2(PSEN2):c.69T>C (p.Ala23=) | 11405 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 226881976 | 226881976 | T | C |
| 249746 | single nucleotide variant | NM_000447.2(PSEN2):c.69T>C (p.Ala23=) | 11405 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 227069677 | 227069677 | T | C |
| 249747 | single nucleotide variant | NM_000447.2(PSEN2):c.129C>T (p.Asn43=) | 6759 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 226882036 | 226882036 | C | T |
| 249747 | single nucleotide variant | NM_000447.2(PSEN2):c.129C>T (p.Asn43=) | 6759 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 227069737 | 227069737 | C | T |
| 249748 | single nucleotide variant | NM_000447.2(PSEN2):c.261C>T (p.His87=) | 1046240 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 226883824 | 226883824 | C | T |
| 249748 | single nucleotide variant | NM_000447.2(PSEN2):c.261C>T (p.His87=) | 1046240 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 227071525 | 227071525 | C | T |
| 249749 | single nucleotide variant | NM_000447.2(PSEN2):c.366G>A (p.Thr122=) | 148996705 | MedGen:CN169374 | 1 | 226885547 | 226885547 | G | A |
| 249749 | single nucleotide variant | NM_000447.2(PSEN2):c.366G>A (p.Thr122=) | 148996705 | MedGen:CN169374 | 1 | 227073248 | 227073248 | G | A |
| 249750 | single nucleotide variant | NM_000447.2(PSEN2):c.441C>T (p.Ser147=) | 114334281 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 226885622 | 226885622 | C | T |
| 249750 | single nucleotide variant | NM_000447.2(PSEN2):c.441C>T (p.Ser147=) | 114334281 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 227073323 | 227073323 | C | T |
| 249751 | single nucleotide variant | NM_000447.2(PSEN2):c.708T>C (p.Ser236=) | 61730652 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 226888970 | 226888970 | T | C |
| 249751 | single nucleotide variant | NM_000447.2(PSEN2):c.708T>C (p.Ser236=) | 61730652 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 227076671 | 227076671 | T | C |
| 249752 | single nucleotide variant | NM_000447.2(PSEN2):c.756G>C (p.Ala252=) | 147702142 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 226889018 | 226889018 | G | C |
| 249752 | single nucleotide variant | NM_000447.2(PSEN2):c.756G>C (p.Ala252=) | 147702142 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 227076719 | 227076719 | G | C |
| 249753 | single nucleotide variant | NM_000447.2(PSEN2):c.903G>T (p.Thr301=) | 6426553 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 226891294 | 226891294 | G | T |
| 249753 | single nucleotide variant | NM_000447.2(PSEN2):c.903G>T (p.Thr301=) | 6426553 | MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 | 1 | 227078995 | 227078995 | G | T |
| 279384 | single nucleotide variant | NM_000447.2(PSEN2):c.-144A>G | 886046061 | MedGen:CN239310;MedGen:CN043596 | 1 | 226875427 | 226875427 | A | G |
| 279384 | single nucleotide variant | NM_000447.2(PSEN2):c.-144A>G | 886046061 | MedGen:CN239310;MedGen:CN043596 | 1 | 227063128 | 227063128 | A | G |
| 279385 | single nucleotide variant | NM_000447.2(PSEN2):c.38T>C (p.Val13Ala) | 766853710 | MedGen:CN239310;MedGen:CN043596 | 1 | 226881945 | 226881945 | T | C |
| 279385 | single nucleotide variant | NM_000447.2(PSEN2):c.38T>C (p.Val13Ala) | 766853710 | MedGen:CN239310;MedGen:CN043596 | 1 | 227069646 | 227069646 | T | C |
| 279389 | single nucleotide variant | NM_000447.2(PSEN2):c.222C>G (p.Gly74=) | 773522773 | MedGen:CN239310;MedGen:CN043596 | 1 | 226883785 | 226883785 | C | G |
| 279389 | single nucleotide variant | NM_000447.2(PSEN2):c.222C>G (p.Gly74=) | 773522773 | MedGen:CN239310;MedGen:CN043596 | 1 | 227071486 | 227071486 | C | G |
| 279393 | single nucleotide variant | NM_000447.2(PSEN2):c.954C>T (p.Pro318=) | 199587016 | MedGen:CN239310;MedGen:CN043596 | 1 | 226891345 | 226891345 | C | T |
| 279393 | single nucleotide variant | NM_000447.2(PSEN2):c.954C>T (p.Pro318=) | 199587016 | MedGen:CN239310;MedGen:CN043596 | 1 | 227079046 | 227079046 | C | T |
| 279394 | single nucleotide variant | NM_000447.2(PSEN2):c.*306G>A | 145129440 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895885 | 226895885 | G | A |
| 279394 | single nucleotide variant | NM_000447.2(PSEN2):c.*306G>A | 145129440 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083586 | 227083586 | G | A |
| 279399 | single nucleotide variant | NM_000447.2(PSEN2):c.*405G>T | 116807339 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895984 | 226895984 | G | T |
| 279399 | single nucleotide variant | NM_000447.2(PSEN2):c.*405G>T | 116807339 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083685 | 227083685 | G | T |
| 279627 | single nucleotide variant | NM_000447.2(PSEN2):c.-43C>T | 7961 | MedGen:CN239310;MedGen:CN043596 | 1 | 226875528 | 226875528 | C | T |
| 279627 | single nucleotide variant | NM_000447.2(PSEN2):c.-43C>T | 7961 | MedGen:CN239310;MedGen:CN043596 | 1 | 227063229 | 227063229 | C | T |
| 279635 | single nucleotide variant | NM_000447.2(PSEN2):c.690C>G (p.Ala230=) | 145010538 | MedGen:CN239310;MedGen:CN043596 | 1 | 226888952 | 226888952 | C | G |
| 279635 | single nucleotide variant | NM_000447.2(PSEN2):c.690C>G (p.Ala230=) | 145010538 | MedGen:CN239310;MedGen:CN043596 | 1 | 227076653 | 227076653 | C | G |
| 279636 | single nucleotide variant | NM_000447.2(PSEN2):c.937G>A (p.Gly313Ser) | 756225509 | MedGen:CN239310;MedGen:CN043596 | 1 | 226891328 | 226891328 | G | A |
| 279636 | single nucleotide variant | NM_000447.2(PSEN2):c.937G>A (p.Gly313Ser) | 756225509 | MedGen:CN239310;MedGen:CN043596 | 1 | 227079029 | 227079029 | G | A |
| 279637 | single nucleotide variant | NM_000447.2(PSEN2):c.1077C>T (p.Gly359=) | 753503617 | MedGen:CN239310;MedGen:CN043596 | 1 | 226894011 | 226894011 | C | T |
| 279637 | single nucleotide variant | NM_000447.2(PSEN2):c.1077C>T (p.Gly359=) | 753503617 | MedGen:CN239310;MedGen:CN043596 | 1 | 227081712 | 227081712 | C | T |
| 279638 | single nucleotide variant | NM_000447.2(PSEN2):c.*103C>T | 571670427 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895682 | 226895682 | C | T |
| 279638 | single nucleotide variant | NM_000447.2(PSEN2):c.*103C>T | 571670427 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083383 | 227083383 | C | T |
| 279639 | single nucleotide variant | NM_000447.2(PSEN2):c.*120G>A | 143059995 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895699 | 226895699 | G | A |
| 279639 | single nucleotide variant | NM_000447.2(PSEN2):c.*120G>A | 143059995 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083400 | 227083400 | G | A |
| 279642 | single nucleotide variant | NM_000447.2(PSEN2):c.*132T>C | 186288674 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895711 | 226895711 | T | C |
| 279642 | single nucleotide variant | NM_000447.2(PSEN2):c.*132T>C | 186288674 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083412 | 227083412 | T | C |
| 280901 | single nucleotide variant | NM_000447.2(PSEN2):c.-356A>G | 12758915 | MedGen:CN239310;MedGen:CN043596 | 1 | 226870643 | 226870643 | A | G |
| 280901 | single nucleotide variant | NM_000447.2(PSEN2):c.-356A>G | 12758915 | MedGen:CN239310;MedGen:CN043596 | 1 | 227058344 | 227058344 | A | G |
| 280903 | single nucleotide variant | NM_000447.2(PSEN2):c.-338A>G | 6665033 | MedGen:CN239310;MedGen:CN043596 | 1 | 226871273 | 226871273 | A | G |
| 280903 | single nucleotide variant | NM_000447.2(PSEN2):c.-338A>G | 6665033 | MedGen:CN239310;MedGen:CN043596 | 1 | 227058974 | 227058974 | A | G |
| 280906 | single nucleotide variant | NM_000447.2(PSEN2):c.-275C>T | 1295645 | MedGen:CN239310;MedGen:CN043596 | 1 | 226871336 | 226871336 | C | T |
| 280906 | single nucleotide variant | NM_000447.2(PSEN2):c.-275C>T | 1295645 | MedGen:CN239310;MedGen:CN043596 | 1 | 227059037 | 227059037 | C | T |
| 280914 | single nucleotide variant | NM_000447.2(PSEN2):c.861C>T (p.Pro287=) | 75733498 | MedGen:CN239310;MedGen:CN043596 | 1 | 226890108 | 226890108 | C | T |
| 280914 | single nucleotide variant | NM_000447.2(PSEN2):c.861C>T (p.Pro287=) | 75733498 | MedGen:CN239310;MedGen:CN043596 | 1 | 227077809 | 227077809 | C | T |
| 280915 | single nucleotide variant | NM_000447.2(PSEN2):c.*72T>C | 886046062 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895651 | 226895651 | T | C |
| 280915 | single nucleotide variant | NM_000447.2(PSEN2):c.*72T>C | 886046062 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083352 | 227083352 | T | C |
| 280916 | single nucleotide variant | NM_000447.2(PSEN2):c.*487G>C | 7962 | MedGen:CN239310;MedGen:CN043596 | 1 | 226896066 | 226896066 | G | C |
| 280916 | single nucleotide variant | NM_000447.2(PSEN2):c.*487G>C | 7962 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083767 | 227083767 | G | C |
| 281045 | single nucleotide variant | NM_000447.2(PSEN2):c.-400C>T | 186308126 | MedGen:CN239310;MedGen:CN043596 | 1 | 226870599 | 226870599 | C | T |
| 281045 | single nucleotide variant | NM_000447.2(PSEN2):c.-400C>T | 186308126 | MedGen:CN239310;MedGen:CN043596 | 1 | 227058300 | 227058300 | C | T |
| 281046 | single nucleotide variant | NM_000447.2(PSEN2):c.-278C>T | 199532840 | MedGen:CN239310;MedGen:CN043596 | 1 | 226871333 | 226871333 | C | T |
| 281046 | single nucleotide variant | NM_000447.2(PSEN2):c.-278C>T | 199532840 | MedGen:CN239310;MedGen:CN043596 | 1 | 227059034 | 227059034 | C | T |
| 281047 | single nucleotide variant | NM_000447.2(PSEN2):c.-82T>C | 200607063 | MedGen:CN239310;MedGen:CN043596 | 1 | 226875489 | 226875489 | T | C |
| 281047 | single nucleotide variant | NM_000447.2(PSEN2):c.-82T>C | 200607063 | MedGen:CN239310;MedGen:CN043596 | 1 | 227063190 | 227063190 | T | C |
| 281053 | single nucleotide variant | NM_000447.2(PSEN2):c.336C>T (p.Tyr112=) | 200610057 | MedGen:CN239310;MedGen:CN043596 | 1 | 226883899 | 226883899 | C | T |
| 281053 | single nucleotide variant | NM_000447.2(PSEN2):c.336C>T (p.Tyr112=) | 200610057 | MedGen:CN239310;MedGen:CN043596 | 1 | 227071600 | 227071600 | C | T |
| 281056 | single nucleotide variant | NM_000447.2(PSEN2):c.410A>G (p.Asn137Ser) | 749301595 | MedGen:CN239310;MedGen:CN043596 | 1 | 226885591 | 226885591 | A | G |
| 281056 | single nucleotide variant | NM_000447.2(PSEN2):c.410A>G (p.Asn137Ser) | 749301595 | MedGen:CN239310;MedGen:CN043596 | 1 | 227073292 | 227073292 | A | G |
| 281057 | single nucleotide variant | NM_000447.2(PSEN2):c.*20G>A | 201399057 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895599 | 226895599 | G | A |
| 281057 | single nucleotide variant | NM_000447.2(PSEN2):c.*20G>A | 201399057 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083300 | 227083300 | G | A |
| 281058 | single nucleotide variant | NM_000447.2(PSEN2):c.*270C>T | 8383 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895849 | 226895849 | C | T |
| 281058 | single nucleotide variant | NM_000447.2(PSEN2):c.*270C>T | 8383 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083550 | 227083550 | C | T |
| 281061 | single nucleotide variant | NM_000447.2(PSEN2):c.*377C>T | 202160009 | MedGen:CN239310;MedGen:CN043596 | 1 | 226895956 | 226895956 | C | T |
| 281061 | single nucleotide variant | NM_000447.2(PSEN2):c.*377C>T | 202160009 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083657 | 227083657 | C | T |
| 353095 | single nucleotide variant | NM_000447.2(PSEN2):c.*536G>A | 16846619 | MedGen:CN239310;MedGen:CN043596 | 1 | 227083816 | 227083816 | G | A |
| 353095 | single nucleotide variant | NM_000447.2(PSEN2):c.*536G>A | 16846619 | MedGen:CN239310;MedGen:CN043596 | 1 | 226896115 | 226896115 | G | A |