Full data view for gene PSEN2

Information The variants shown are described using the NM_000447.2 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-356A>G r.(?) p.(=) Unknown - benign g.227058344A>G g.226870643A>G - - PSEN2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-275C>T r.(?) p.(=) Unknown - benign g.227059037C>T g.226871336C>T - - PSEN2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69T>C r.(?) p.(Ala23=) Unknown - benign g.227069677T>C g.226881976T>C PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=) - PSEN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69T>C r.(?) p.(Ala23=) Unknown - benign g.227069677T>C g.226881976T>C PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=) - PSEN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69T>C r.(?) p.(Ala23=) Unknown - benign g.227069677T>C g.226881976T>C PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=) - PSEN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69T>C r.(?) p.(Ala23=) Unknown - benign g.227069677T>C g.226881976T>C PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=) - PSEN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69T>C r.(?) p.(Ala23=) Unknown - benign g.227069677T>C g.226881976T>C PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=) - PSEN2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.80C>T r.(?) p.(Thr27Met) Unknown ACMG VUS g.227069688C>T g.226881987C>T - - PSEN2_000074 ACMG: PM2 - - rs149354305 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-/? 3 c.(86G>A) r.(?) p.(Arg29His) Unknown - benign g.225136317G>A - - - PSEN2_000025 Observed in one African control individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Point mutation in coding region predicting an amino acid substitution"" Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.(100G>A) r.(?) p.(Gly34Ser) Unknown - VUS g.227069708G>A g.226882007G>A - - PSEN2_000030 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - - - - Netherlands white - - - - 1 Marc Cruts
-/. - c.129C>T r.(?) p.(Asn43=) Unknown - benign g.227069737C>T g.226882036C>T PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=) - PSEN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129C>T r.(?) p.(Asn43=) Unknown - benign g.227069737C>T g.226882036C>T PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=) - PSEN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129C>T r.(?) p.(Asn43=) Unknown - benign g.227069737C>T g.226882036C>T PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=) - PSEN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129C>T r.(?) p.(Asn43=) Unknown - benign g.227069737C>T g.226882036C>T PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=) - PSEN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.129C>T r.(?) p.(Asn43=) Unknown - benign g.227069737C>T g.226882036C>T PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=) - PSEN2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.141+30A>G r.(=) p.(=) Unknown - benign g.227069779A>G g.226882078A>G PSEN2(NM_000447.2):c.141+30A>G - PSEN2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.142-42G>A r.(=) p.(=) Unknown - benign g.227071364G>A g.226883663G>A PSEN2(NM_000447.3):c.142-42G>A - PSEN2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.142-23C>T r.(=) p.(=) Unknown - benign g.227071383C>T g.226883682C>T PSEN2(NM_000447.2):c.142-23C>T - PSEN2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.149A>G r.(?) p.(Gln50Arg) Unknown - VUS g.227071413A>G g.226883712A>G - - PSEN2_000024 - - - - Germline - - - - - DNA SEQ-NG - - PD - - - - - Norway - - - - - 2 Zafar Iqbal
?/? 4 c.(184C>T) r.(?) p.(Arg62Cys) Unknown - VUS g.227071448C>T g.226883747C>T - - PSEN2_000031 Observed in 1 AD patient and 2 neurologically healty individuals.. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - - - - Belgium white - - - - 1 Marc Cruts
?/? 4 c.(185G>A) r.(?) p.(Arg62His) Unknown - VUS g.227071449G>A g.226883748G>A - - PSEN2_000032 Observed in 20 African control individuals of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. Does not segregate in an FTLD family.. /r/Point mutation in coding region predicting an amino acid substitution"" - - rs58973334 Unknown no - - - - DNA ? - - AD - PubMed: Cruts M 1998 - - - Netherlands white - - - - 1 Marc Cruts
?/? 4 c.(185G>A) r.(?) p.(Arg62His) Unknown - VUS g.227071449G>A g.226883748G>A - - PSEN2_000032 Observed in 20 African control individuals of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. Does not segregate in an FTLD family.. /r/Point mutation in coding region predicting an amino acid substitution"" - - rs58973334 Unknown no - - - - DNA ? - - FTD - - No segregation. Unaffected mother carries this mutation. Affected sibling does not carry this mutation, but the <A href=\""Default.cfm?MT=1&ML=0&Page=Mutations&ID=586"""">MAPT Val75Ala</a> mutation."" - - - - - - - - 1 Marc Cruts
?/? 4 c.(185G>A) r.(?) p.(Arg62His) Unknown - VUS g.227071449G>A g.226883748G>A - - PSEN2_000032 Observed in 20 African control individuals of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. Does not segregate in an FTLD family.. /r/Point mutation in coding region predicting an amino acid substitution"" - - rs58973334 Unknown no - - - - DNA ? - - AD - - - - - Netherlands white - - - - 1 Marc Cruts
-/. - c.185G>A r.(?) p.(Arg62His) Unknown - benign g.227071449G>A g.226883748G>A PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H) - PSEN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.185G>A r.(?) p.(Arg62His) Unknown - benign g.227071449G>A g.226883748G>A PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H) - PSEN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.185G>A r.(?) p.(Arg62His) Unknown - benign g.227071449G>A g.226883748G>A PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H) - PSEN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185G>A r.(?) p.(Arg62His) Unknown - likely benign g.227071449G>A g.226883748G>A PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H) - PSEN2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>T r.(?) p.(Pro69=) Unknown - likely benign g.227071471C>T g.226883770C>T PSEN2(NM_000447.3):c.207C>T (p.P69=) - PSEN2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.(211C>T) r.(?) p.(Arg71Trp) Unknown - VUS g.227071475C>T g.226883774C>T - - PSEN2_000021 Observed in 3 AD patients and neurologically healthy individual.. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - Iberia - - - white - - - - 1 Marc Cruts
?/? 4 c.(211C>T) r.(?) p.(Arg71Trp) Unknown - VUS g.227071475C>T g.226883774C>T - - PSEN2_000021 Observed in 3 AD patients and neurologically healthy individual.. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - - - - Netherlands white - - - - 1 Marc Cruts
?/? 4 c.(211C>T) r.(?) p.(Arg71Trp) Unknown - VUS g.227071475C>T g.226883774C>T - - PSEN2_000021 Observed in 3 AD patients and neurologically healthy individual.. /r/Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - - - - Belgium white - - - - 1 Marc Cruts
?/. 5 c.211C>T r.(?) p.(Arg71Trp) Unknown - VUS g.227071475C>T g.226883774C>T - - PSEN2_000021 - - - - Germline - - - - - DNA SEQ-NG - - PD - - - - - Norway - - - - - 1 Zafar Iqbal
-?/. - c.211C>T r.(?) p.(Arg71Trp) Unknown - likely benign g.227071475C>T g.226883774C>T PSEN2(NM_000447.3):c.211C>T (p.R71W) - PSEN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.211C>T r.(?) p.(Arg71Trp) Unknown - benign g.227071475C>T g.226883774C>T PSEN2(NM_000447.3):c.211C>T (p.R71W) - PSEN2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253G>C r.(?) p.(Ala85Pro) Unknown - VUS g.227071517G>C g.226883816G>C PSEN2(NM_000447.3):c.253G>C (p.A85P) - PSEN2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.(254C>T) r.(?) p.(Ala85Val) Unknown - pathogenic g.227071518C>T g.226883817C>T - - PSEN2_000033 Point mutation in coding region predicting an amino acid substitution - - rs63750048 Unknown yes - - - - DNA ? - - AD, PD - - - - - Italy white 82y - - - 3 Marc Cruts
+/. - c.254C>T r.(?) p.(Ala85Val) Parent #1 - pathogenic g.227071518C>T g.226883817C>T - - PSEN2_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs63750048 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.261C>T r.(?) p.(His87=) Unknown - benign g.227071525C>T g.226883824C>T PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=) - PSEN2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261C>T r.(?) p.(His87=) Unknown - benign g.227071525C>T g.226883824C>T PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=) - PSEN2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261C>T r.(?) p.(His87=) Unknown - benign g.227071525C>T g.226883824C>T PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=) - PSEN2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261C>T r.(?) p.(His87=) Unknown - benign g.227071525C>T g.226883824C>T PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=) - PSEN2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.261C>T r.(?) p.(His87=) Unknown - benign g.227071525C>T g.226883824C>T PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=) - PSEN2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316A>G r.(?) p.(Ile106Val) Unknown - VUS g.227071580A>G g.226883879A>G PSEN2(NM_000447.2):c.316A>G (p.I106V) - PSEN2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336C>T r.(?) p.(Tyr112=) Unknown - likely benign g.227071600C>T g.226883899C>T PSEN2(NM_000447.2):c.336C>T (p.Y112=), PSEN2(NM_000447.3):c.336C>T (p.Y112=) - PSEN2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336C>T r.(?) p.(Tyr112=) Unknown - likely benign g.227071600C>T g.226883899C>T PSEN2(NM_000447.2):c.336C>T (p.Y112=), PSEN2(NM_000447.3):c.336C>T (p.Y112=) - PSEN2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336C>T r.(?) p.(Tyr112=) Unknown - likely benign g.227071600C>T g.226883899C>T PSEN2(NM_000447.2):c.336C>T (p.Y112=), PSEN2(NM_000447.3):c.336C>T (p.Y112=) - PSEN2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341A>G r.(?) p.(Glu114Gly) Unknown - VUS g.227071605A>G - PSEN2(NM_000447.3):c.341A>G (p.E114G) - PSEN2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357C>T r.(?) p.(Leu119=) Unknown - likely benign g.227073239C>T - PSEN2(NM_000447.3):c.357C>T (p.L119=) - PSEN2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.(364A>C) r.(?) p.(Thr122Pro) Unknown - pathogenic g.227073246A>C g.226885545A>C - - PSEN2_000034 Point mutation in coding region predicting an amino acid substitution - - rs63749851 Unknown yes - - - - DNA ? - - AD - PubMed: Finckh U 2000 - - - Germany white 49y09m - - - 3 Marc Cruts
+/+ 5 c.(364A>C) r.(?) p.(Thr122Pro) Unknown - pathogenic g.227073246A>C g.226885545A>C - - PSEN2_000034 Point mutation in coding region predicting an amino acid substitution - - rs63749851 Unknown no - - - - DNA ? - - AD - - - - - Germany white 78y - - - 1 Marc Cruts
+/+ 5 c.(365C>G) r.(?) p.(Thr122Arg) Unknown - pathogenic g.227073247C>G g.226885546C>G - - PSEN2_000035 Point mutation in coding region predicting an amino acid substitution - - rs28936380 Unknown yes - - - - DNA ? - - AD, FTD - - - - - Italy white 67y - - - 4 Marc Cruts
-?/. - c.366G>A r.(?) p.(Thr122=) Unknown - likely benign g.227073248G>A g.226885547G>A PSEN2(NM_000447.2):c.366G>A (p.T122=), PSEN2(NM_000447.3):c.366G>A (p.T122=) - PSEN2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366G>A r.(?) p.(Thr122=) Unknown - likely benign g.227073248G>A g.226885547G>A PSEN2(NM_000447.2):c.366G>A (p.T122=), PSEN2(NM_000447.3):c.366G>A (p.T122=) - PSEN2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366G>A r.(?) p.(Thr122=) Unknown - likely benign g.227073248G>A g.226885547G>A PSEN2(NM_000447.2):c.366G>A (p.T122=), PSEN2(NM_000447.3):c.366G>A (p.T122=) - PSEN2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.(389C>T) r.(?) p.(Ser130Leu) Unknown - VUS g.227073271C>T g.226885570C>T - - PSEN2_000036 Point mutation in coding region predicting an amino acid substitution - - rs63750197 Unknown no - - - - DNA ? - - AD - PubMed: Sorbi S 2002 - - - Italy white 83y06m - - - 3 Marc Cruts
?/? 5 c.(389C>T) r.(?) p.(Ser130Leu) Unknown - VUS g.227073271C>T g.226885570C>T - - PSEN2_000036 Point mutation in coding region predicting an amino acid substitution - - rs63750197 Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 1 Marc Cruts
?/. - c.389C>T r.(?) p.(Ser130Leu) Unknown - VUS g.227073271C>T g.226885570C>T PSEN2(NM_000447.3):c.389C>T (p.S130L) - PSEN2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.389C>T r.(?) p.(Ser130Leu) Unknown - likely benign g.227073271C>T g.226885570C>T PSEN2(NM_000447.3):c.389C>T (p.S130L) - PSEN2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.400C>T r.(?) p.(Arg134Cys) Unknown - VUS g.227073282C>T g.226885581C>T - - PSEN2_000022 - - - - Germline - - - - - DNA SEQ-NG - - PD - - - - - Norway - - - - - 1 Zafar Iqbal
?/? 5 c.(415G>A) r.(?) p.(Val139Met) Unknown - VUS g.227073297G>A g.226885596G>A - - PSEN2_000037 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - The proband also carries the <a href=\""http://www.molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&Page=Mutations&ID=164"""">PSEN1 Glu318Gly</a> variation"" - - - - 78y06m - - - 1 Marc Cruts
+/+ 5 c.422A>T r.(?) p.(Asn141Ile) Unknown - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown yes - - - - DNA ? - - AD - PubMed: Levy-Lahad E 1995 PubMed: Rogaev EI 1995 - - - - Volga-German - - - - 3 Marc Cruts
+/+ 5 c.422A>T r.(?) p.(Asn141Ile) Unknown - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown yes - - - - DNA ? - - AD - PubMed: Levy-Lahad E 1995 PubMed: Rogaev EI 1995 - - - - Volga-German - - - - 6 Marc Cruts
+/+ 5 c.422A>T r.(?) p.(Asn141Ile) Unknown - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown yes - - - - DNA ? - - AD - PubMed: Levy-Lahad E 1995 PubMed: Rogaev EI 1995 - - - - Volga-German - - - - 6 Marc Cruts
+/+ 5 c.422A>T r.(?) p.(Asn141Ile) Unknown - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown no - - - - DNA ? - - AD - PubMed: Levy-Lahad E 1995 PubMed: Rogaev EI 1995 - - - - Volga-German - - - - 17 Marc Cruts
+/+ 5 c.422A>T r.(?) p.(Asn141Ile) Unknown - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown yes - - - - DNA ? - - AD - PubMed: Levy-Lahad E 1995 PubMed: Rogaev EI 1995 - - - - Volga-German - - - - 22 Marc Cruts
+/+ 5 c.422A>T r.(?) p.(Asn141Ile) Unknown - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown no - - - - DNA ? - - AD - PubMed: Levy-Lahad E 1995 PubMed: Rogaev EI 1995 - - - - Volga-German - - - - 17 Marc Cruts
+/+ 5 c.422A>T r.(?) p.(Asn141Ile) Unknown - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown yes - - - - DNA ? - - AD - PubMed: Levy-Lahad E 1995 PubMed: Rogaev EI 1995 - - - - Volga-German - - - - 5 Marc Cruts
+/+ 5 c.422A>T r.(?) p.(Asn141Ile) Unknown - pathogenic g.227073304A>T g.226885603A>T - - PSEN2_000038 Point mutation in coding region predicting an amino acid substitution - - rs63750215 Unknown no - - - - DNA ? - - AD - - Unaffected 40-year-old individual - - Germany white (Volga-German Ancestry) - - - - - Marc Cruts
-?/. - c.423C>T r.(?) p.(Asn141=) Unknown - likely benign g.227073305C>T g.226885604C>T PSEN2(NM_000447.3):c.423C>T (p.N141=) - PSEN2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 5 c.(428T>A) r.(?) p.(Leu143His) Unknown - benign g.225139933T>A - - - PSEN2_000026 Observed in one African control individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Point mutation in coding region predicting an amino acid substitution"" Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441C>T r.(?) p.(Ser147=) Unknown - likely benign g.227073323C>T g.226885622C>T PSEN2(NM_000447.3):c.441C>T (p.S147=) - PSEN2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441C>T r.(?) p.(Ser147=) Unknown - likely benign g.227073323C>T g.226885622C>T PSEN2(NM_000447.3):c.441C>T (p.S147=) - PSEN2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.(442G>A) r.(?) p.(Val148Ile) Unknown - pathogenic g.227073324G>A g.226885623G>A - - PSEN2_000039 Point mutation in coding region predicting an amino acid substitution - - rs63750812 Unknown no - - - - DNA ? - - AD - PubMed: Beyer K 1998 PubMed: Lao JI 1998 - - - Spain white - - - - 1 Marc Cruts
-/? 5 c.(488G>A) r.(?) p.(Arg163His) Unknown - benign g.225139993G>A - - - PSEN2_000027 Observed in a Parkinsons disease patient with a mutation in the SNCA gene and unaffected mother. /r/Point mutation in coding region predicting an amino acid substitution Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.498+30G>C r.(=) p.(=) Unknown - benign g.227073410G>C g.226885709G>C PSEN2(NM_000447.2):c.498+30G>C - PSEN2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.(520A>G) r.(?) p.(Met174Val) Unknown - pathogenic g.227075813A>G g.226888112A>G - - PSEN2_000040 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - Iberia - - - white - - - - 1 Marc Cruts
+/+ 6 c.(520A>G) r.(?) p.(Met174Val) Unknown - pathogenic g.227075813A>G g.226888112A>G - - PSEN2_000040 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - AD - - - - - - - - - - - 1 Marc Cruts
+/+ 6 c.(524C>G) r.(?) p.(Ser175Cys) Unknown - pathogenic g.227075817C>G g.226888116C>G - - PSEN2_000041 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - AD - - - - - Italy white 70y - - - 2 Marc Cruts
-?/. - c.606C>G r.(?) p.(Pro202=) Unknown - likely benign g.227076569C>G g.226888868C>G PSEN2(NM_000447.2):c.606C>G (p.P202=), PSEN2(NM_000447.3):c.606C>G (p.P202=) - PSEN2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.606C>G r.(?) p.(Pro202=) Unknown - likely benign g.227076569C>G g.226888868C>G PSEN2(NM_000447.2):c.606C>G (p.P202=), PSEN2(NM_000447.3):c.606C>G (p.P202=) - PSEN2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.(683A>T) r.(?) p.(Gln228Leu) Unknown - pathogenic g.227076646A>T g.226888945A>T - - PSEN2_000042 Point mutation in coding region predicting an amino acid substitution - - rs63750880 Unknown no - - - - DNA ? - - AD - - - - - Poland white - - - - 2 Marc Cruts
-?/. - c.690C>G r.(?) p.(Ala230=) Unknown - likely benign g.227076653C>G g.226888952C>G PSEN2(NM_000447.3):c.690C>G (p.A230=) - PSEN2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690C>G r.(?) p.(Ala230=) Unknown - likely benign g.227076653C>G g.226888952C>G PSEN2(NM_000447.3):c.690C>G (p.A230=) - PSEN2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.(692A>G) r.(?) p.(Tyr231Cys) Unknown - pathogenic g.227076655A>G g.226888954A>G - - PSEN2_000043 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - FTD - - - - - Italy white 83y - - - 2 Marc Cruts
-/. - c.708T>C r.(?) p.(Ser236=) Unknown - benign g.227076671T>C g.226888970T>C PSEN2(NM_000447.2):c.708T>C (p.(Ser236=)), PSEN2(NM_000447.3):c.708T>C (p.S236=) - PSEN2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708T>C r.(=) p.(=) Parent #1 - likely benign g.227076671T>C g.226888970T>C - - PSEN2_000061 16 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61730652 Germline - 16/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
-/. - c.708T>C r.(?) p.(Ser236=) Unknown - benign g.227076671T>C - PSEN2(NM_000447.2):c.708T>C (p.(Ser236=)), PSEN2(NM_000447.3):c.708T>C (p.S236=) - PSEN2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.710C>T r.(?) p.(Ala237Val) Unknown - VUS g.227076673C>T - PSEN2(NM_000447.3):c.710C>T (p.A237V) - PSEN2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.715A>G r.(?) p.(Met239Val) Unknown - pathogenic g.227076678A>G g.226888977A>G - - PSEN2_000020 - submitted - - Unknown - - - - - DNA SEQ-NG - - AD - - - M no France - - - - - 1 Gael Nicolas
+/+ 7 c.715A>G r.(?) p.(Met239Val) Unknown - pathogenic g.227076678A>G g.226888977A>G - - PSEN2_000020 Point mutation in coding region predicting an amino acid substitution - - rs28936379 Unknown yes - - - - DNA ? - - ?, AD - PubMed: Rogaev EI 1995 - - - Italy white - - - - 1 Marc Cruts
+/+ 7 c.(717G>A) r.(?) p.(Met239Ile) Unknown - pathogenic g.227076680G>A g.226888979G>A - - PSEN2_000044 Point mutation in coding region predicting an amino acid substitution - - rs63749884 Unknown yes - - - - DNA ? - - AD - PubMed: Finckh U 2000 PubMed: Finckh U 2000 - - - Italy white 65y - - - 3 Marc Cruts
-/? 7 c.(754G>A) r.(?) p.(Ala252Thr) Unknown - benign g.225143340G>A - - - PSEN2_000028 Observed in two African control individual of the <a href=\""http://www.cephb.fr/en/hgdp/diversity.php/"""" target=”blank”> Human Genome Diversity Panel</a>. /r/Point mutation in coding region predicting an amino acid substitution"" Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.756G>C r.(?) p.(Ala252=) Unknown - likely benign g.227076719G>C g.226889018G>C PSEN2(NM_000447.2):c.756G>C (p.A252=), PSEN2(NM_000447.3):c.756G>C (p.A252=) - PSEN2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.756G>C r.(?) p.(Ala252=) Unknown - likely benign g.227076719G>C g.226889018G>C PSEN2(NM_000447.2):c.756G>C (p.A252=), PSEN2(NM_000447.3):c.756G>C (p.A252=) - PSEN2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.756G>C r.(?) p.(Ala252=) Unknown - likely benign g.227076719G>C - PSEN2(NM_000447.2):c.756G>C (p.A252=), PSEN2(NM_000447.3):c.756G>C (p.A252=) - PSEN2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.766del r.(?) p.(Leu256Trpfs*19) Unknown - pathogenic g.227076729del - PSEN2(NM_000447.3):c.766delC (p.L256Wfs*19) - PSEN2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.772G>A r.(?) p.(Ala258Thr) Unknown - VUS g.227076735G>A g.226889034G>A PSEN2(NM_000447.2):c.772G>A (p.A258T) - PSEN2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861C>T r.(?) p.(Pro287=) Unknown - likely benign g.227077809C>T g.226890108C>T PSEN2(NM_000447.2):c.861C>T (p.P287=), PSEN2(NM_000447.3):c.861C>T (p.P287=) - PSEN2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861C>T r.(?) p.(Pro287=) Unknown - likely benign g.227077809C>T g.226890108C>T PSEN2(NM_000447.2):c.861C>T (p.P287=), PSEN2(NM_000447.3):c.861C>T (p.P287=) - PSEN2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.887-24T>C r.(=) p.(=) Unknown - benign g.227078955T>C g.226891254T>C PSEN2(NM_000447.2):c.887-24T>C - PSEN2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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