Full data view for gene PTEN

Information The variants shown are described using the NM_000314.4 transcript reference sequence.

1290 entries on 13 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.-2454C>A r.(?) p.(=) Unknown - VUS g.89621773C>A g.87862016C>A KLLN(NM_001126049.1):c.472G>T (p.G158W) - KLLN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2427A>T r.(?) p.(=) Unknown - likely benign g.89621800A>T g.87862043A>T KLLN(NM_001126049.1):c.445T>A (p.(Trp149Arg)) - KLLN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2417del r.(?) p.(=) Unknown - VUS g.89621810del g.87862053del KLLN(NM_001126049.1):c.438del (p.(Ala147ProfsTer35)) - KLLN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2374T>C r.(?) p.(=) Unknown - likely benign g.89621853T>C g.87862096T>C KLLN(NM_001126049.1):c.392A>G (p.(Asn131Ser)) - KLLN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2364G>C r.(?) p.(=) Unknown - benign g.89621863G>C g.87862106G>C KLLN(NM_001126049.1):c.382C>G (p.(Arg128Gly)), KLLN(NM_001126049.2):c.382C>G (p.R128G) - KLLN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2364G>C r.(?) p.(=) Unknown - likely benign g.89621863G>C g.87862106G>C KLLN(NM_001126049.1):c.382C>G (p.(Arg128Gly)), KLLN(NM_001126049.2):c.382C>G (p.R128G) - KLLN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2322_-2321del r.(?) p.(=) Unknown - VUS g.89621905_89621906del g.87862148_87862149del KLLN(NM_001126049.1):c.339_340del (p.(Ala115SerfsTer58)), KLLN(NM_001126049.1):c.339_340delAG (p.A115Sfs*58) - KLLN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2322_-2321del r.(?) p.(=) Unknown - VUS g.89621905_89621906del - KLLN(NM_001126049.1):c.339_340del (p.(Ala115SerfsTer58)), KLLN(NM_001126049.1):c.339_340delAG (p.A115Sfs*58) - KLLN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2322_-2321del r.(?) p.(=) Unknown - likely benign g.89621905_89621906del - KLLN(NM_001126049.1):c.339_340del (p.(Ala115SerfsTer58)), KLLN(NM_001126049.1):c.339_340delAG (p.A115Sfs*58) - KLLN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2279G>C r.(?) p.(=) Unknown - likely benign g.89621948G>C g.87862191G>C KLLN(NM_001126049.1):c.297C>G (p.C99W) - KLLN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2176G>C r.(?) p.(=) Unknown - VUS g.89622051G>C g.87862294G>C KLLN(NM_001126049.2):c.194C>G (p.S65*) - KLLN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2112C>G r.(?) p.(=) Unknown - VUS g.89622115C>G g.87862358C>G KLLN(NM_001126049.1):c.130G>C (p.(Gly44Arg), p.G44R) - KLLN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2112C>G r.(?) p.(=) Unknown - likely benign g.89622115C>G g.87862358C>G KLLN(NM_001126049.1):c.130G>C (p.(Gly44Arg), p.G44R) - KLLN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2082G>C r.(?) p.(=) Unknown - VUS g.89622145G>C g.87862388G>C KLLN(NM_001126049.1):c.100C>G (p.P34A) - KLLN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2034A>C r.(?) p.(=) Unknown - likely benign g.89622193A>C g.87862436A>C KLLN(NM_001126049.1):c.52T>G (p.W18G) - KLLN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2031C>T r.(?) p.(=) Unknown - VUS g.89622196C>T g.87862439C>T KLLN(NM_001126049.1):c.49G>A (p.(Val17Ile)) - KLLN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1312T>C r.(?) p.(=) Unknown - likely benign g.89622915T>C g.87863158T>C KLLN(NM_001126049.2):c.-671A>G - KLLN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1311T>C r.(=) p.(=) Unknown - VUS g.89622916T>C - - - PTEN_000410 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1242G>A r.(=) p.(=) Unknown - VUS g.89622985G>A - - - PTEN_000411 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1238A>G r.(=) p.(=) Unknown - VUS g.89622989A>G - - - PTEN_000110 Variant Error [EREF/ERANGE]: 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. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1202G>C r.(=) p.(=) Unknown - VUS g.89623025G>C - - - PTEN_000412 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. - c.-1196_-1185del r.(?) p.(=) Unknown - VUS g.89623031_89623042del g.87863274_87863285del KLLN(NM_001126049.2):c.-794_-783delTGCGGCTTTTGC - KLLN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1195_-1184del r.(=) p.(=) Unknown - VUS g.89623032_89623043del g.87863275_87863286del -1195del12 - PTEN_000413 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. - c.-1191G>A r.(?) p.(=) Unknown - VUS g.89623036G>A g.87863279G>A KLLN(NM_001126049.2):c.-792C>T - KLLN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1181G>T r.(=) p.(=) Unknown - VUS g.89623046G>T - - - PTEN_000414 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1176T>C r.(=) p.(=) Unknown - VUS g.89623051T>C - - - PTEN_000415 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1170C>T r.(=) p.(=) Unknown - VUS g.89623057C>T - - - PTEN_000416 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
-/. - c.-1143C>T r.(?) p.(=) Unknown - benign g.89623084C>T - KLLN(NM_001126049.2):c.-840G>A - KLLN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1142C>T r.(=) p.(=) Unknown - VUS g.89623085C>T g.87863328C>T - - PTEN_000417 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1140C>T r.(=) p.(=) Unknown - VUS g.89623087C>T g.87863330C>T - - PTEN_000418 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1122C>T r.(=) p.(=) Unknown - VUS g.89623105C>T - - - PTEN_000419 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1120T>C r.(=) p.(=) Unknown - VUS g.89623107T>C - - - PTEN_000420 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1113T>C r.(=) p.(=) Unknown - VUS g.89623114T>C - - - PTEN_000421 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1110A>G r.(=) p.(=) Unknown - VUS g.89623117A>G - - - PTEN_000111 Variant Error [EREF/ERANGE]: 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. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1088C>T r.(=) p.(=) Unknown - VUS g.89623139C>T - - - PTEN_000165 Variant Error [EREF/ERANGE]: 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. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1085C>T r.(?) p.(=) Unknown - likely benign g.89623142C>T g.87863385C>T KLLN(NM_001126049.2):c.-898G>A - KLLN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1084C>T r.(=) p.(=) Unknown - VUS g.89623143C>T - - - PTEN_000112 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1084C>T r.(?) p.(=) Unknown - VUS g.89623143C>T - - - PTEN_000112 Variant Error [EREF/ERANGE]: 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. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1079C>T r.(=) p.(=) Unknown - VUS g.89623148C>T g.87863391C>T - - PTEN_000423 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1076G>C r.(=) p.(=) Unknown - VUS g.89623151G>C - - - PTEN_000424 analysis 1202 cases Cowden Syndrome Variant Error [EREF/ERANGE]: 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. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
-/. - c.-1060C>G r.(?) p.(=) Unknown - benign g.89623167C>G - KLLN(NM_001126049.2):c.-923G>C - KLLN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1059C>G r.(=) p.(=) Unknown - VUS g.89623168C>G g.87863411C>G - - PTEN_000425 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1043_-1039del r.(=) p.(=) Unknown - VUS g.89623193_89623197del g.87863436_87863440del -1043del5 - PTEN_000426 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1041C>T r.(=) p.(=) Unknown - VUS g.89623186C>T g.87863429C>T - - PTEN_000427 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
-/. - c.-1034_-1030dup r.(?) p.(=) Unknown - benign g.89623193_89623197dup g.87863436_87863440dup KLLN(NM_001126049.2):c.-939_-935dupCAGGG - KLLN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-1033_-1029del r.(=) p.(=) Unknown - VUS g.89623194_89623198del - -1033_1029 del5 - PTEN_000429 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-1033_-1029dup r.(=) p.(=) Unknown - VUS g.89623194_89623198dup - -1033_1029 dup5 - PTEN_000428 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
+/. _1_9_ c.(?_-1031)_(*3303_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_88397644)_(89728532_?)del - BMPR1A,‐119300‐?_1599+?del + PTEN,1‐?_1212+?del - BMPR1A_000107 - PubMed: Aretz 2007 - - Germline - - - - - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat26 PubMed: Aretz 2007 - - - - Germany - - - - 1 Johan den Dunnen
-?/. - c.-1026C>A r.(?) p.(=) Unknown - likely benign g.89623200C>A g.87863443C>A KLLN(NM_001126049.2):c.-956G>T, PTEN(NM_000314.8):c.-1027C>A - PTEN_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-1026C>A r.(=) p.(=) Unknown - VUS g.89623201C>A - - - PTEN_000113 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. _1 c.-1026C>A r.(?) p.(=) Unknown - VUS g.89623201C>A - - - PTEN_000113 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1026C>A r.(?) p.(=) Unknown - likely benign g.89623200C>A g.87863443C>A KLLN(NM_001126049.2):c.-956G>T, PTEN(NM_000314.8):c.-1027C>A - PTEN_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-1000T>C r.(=) p.(=) Unknown - VUS g.89623226T>C - - - PTEN_000114 - copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-976C>T r.(=) p.(=) Unknown - VUS g.89623250C>T - - - PTEN_000431 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-976G>C r.(=) p.(=) Parent #1 - VUS g.89623251G>C g.87863494G>C - - PTEN_000313 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-975G>A r.(?) p.(=) Unknown - likely benign g.89623251G>A g.87863494G>A PTEN(NM_000314.8):c.-976G>A - PTEN_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-975G>A r.(=) p.(=) Unknown - VUS g.89623252G>A - - - PTEN_000433 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-975G>C r.(=) p.(=) Unknown - VUS g.89623252G>C - - - PTEN_000432 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
+?/. - c.-952C>T r.(?) p.? Unknown - VUS g.89623275C>T g.87863518C>T - - PTEN_000833 - - - - Germline - - - - - DNA SEQ - - CWS1 - - - - - - - - - - - 1 Linda Hendricks
?/. 1 c.-945C>T r.(=) p.(=) Unknown - VUS g.89623282C>T - (variantchecker): C not found at position 87, found G instead. - PTEN_000434 analysis 1202 cases Cowden Syndrome Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-930G>A r.(?) p.(=) Unknown - VUS g.89623297G>A - - - PTEN_000115 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-920G>T r.(?) p.(=) Unknown - VUS g.89623306G>T - - - PTEN_000116 - copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-916G>T r.(=) p.(=) Unknown - VUS g.89623310G>T - - - PTEN_000435 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-912T>C r.(=) p.(=) Unknown - VUS g.89623314T>C - - - PTEN_000436 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
-?/. - c.-903G>A r.(?) p.(=) Unknown - likely benign g.89623323G>A g.87863566G>A KLLN(NM_001126049.2):c.-1079C>T, PTEN(NM_000314.8):c.-904G>A - PTEN_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-903G>A r.(=) p.(=) Unknown - VUS g.89623324G>A - - - PTEN_000117 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-903G>A r.(?) p.(=) Unknown - VUS g.89623324G>A - - - PTEN_000117 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-895A>C r.(?) p.(=) Unknown - VUS g.89623332A>C - - - PTEN_000118 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-893A>G r.(?) p.(=) Unknown - likely benign g.89623333A>G g.87863576A>G PTEN(NM_000314.8):c.-894A>G - PTEN_000599 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-893C>T r.(=) p.(=) Unknown - VUS g.89623334C>T - (variantchecker): C not found at position 139, found A instead. - PTEN_000438 analysis 1202 cases Cowden Syndrome Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-861G>T r.(?) p.(=) Unknown - VUS g.89623366G>T - - - PTEN_000104 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-844T>C r.(=) p.(=) Parent #1 - VUS g.89623383T>C g.87863626T>C - - PTEN_000314 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.-843T>C r.(?) p.(=) Unknown - VUS g.89623383T>C g.87863626T>C PTEN(NM_000314.8):c.-844T>C - PTEN_000314 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-843T>C r.(=) p.(=) Unknown - VUS g.89623384T>C - - - PTEN_000439 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-839C>T r.(=) p.(=) Unknown - VUS g.89623387C>T - - - PTEN_000440 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. - c.-838C>T r.(?) p.(?) Unknown ACMG VUS g.89623389C>T - - - PTEN_000708 CRC (e.g. HNPCC) at age 47y, no immunhistochemical data. Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - rs786201900 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. 1 c.-836C>T r.(=) p.(=) Unknown - VUS g.89623390C>T - - - PTEN_000441 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-834C>T r.(=) p.(=) Unknown - VUS g.89623392C>T - - - PTEN_000106 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-834C>T r.(?) p.(=) Unknown - VUS g.89623392C>T - - - PTEN_000106 - copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-834C>T r.(?) p.(=) Unknown - VUS g.89623392C>T - PTEN(NM_000314.8):c.-835C>T - PTEN_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-815A>G r.(=) p.(=) Unknown - VUS g.89623411A>G - - - PTEN_000443 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-805G>T r.(=) p.(=) Unknown - VUS g.89623421G>T - - - PTEN_000444 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-798G>C r.(=) p.(=) Unknown - VUS g.89623428G>C - - - PTEN_000445 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-796G>T r.(=) p.(=) Unknown - VUS g.89623430G>T - - - PTEN_000446 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-792C>T r.(=) p.(=) Unknown - VUS g.89623434C>T - - - PTEN_000447 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-777G>C r.(=) p.(=) Unknown - VUS g.89623450G>C - - - PTEN_000448 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-764G>A r.(?) p.(=) Unknown - VUS g.89623463G>A - - - PTEN_000108 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. copy from ZJU-CGGM database (China) - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-741G>A r.(=) p.(=) Unknown - VUS g.89623485G>A - - - PTEN_000449 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-733G>A r.(=) p.(=) Unknown - VUS g.89623493G>A - - - PTEN_000450 analysis 1202 cases Cowden Syndrome PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-700G>A r.(=) p.(=) Unknown - VUS g.89623527G>A - - - PTEN_000451 analysis 1202 cases Cowden Syndrome Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Nizialek 2015 - - Germline - - - - - DNA MLPA, SEQ - - CWS1 25669429-Pat? PubMed: Nizialek 2015 analysis 1012 CS patients - - United States - - - - - 1 Johan den Dunnen
?/. 1 c.-646C>T r.(=) p.(=) Parent #1 - VUS g.89623581C>T g.87863824C>T - - PTEN_000310 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.-533_-531dup r.(?) p.(=) Unknown - likely benign g.89623693_89623695dup - PTEN(NM_000314.4):c.-534_-532dupCGG - KLLN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-532G>T r.(?) p.(=) Unknown - likely benign g.89623694G>T g.87863937G>T PTEN(NM_000314.8):c.-533G>T - KLLN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-531C>T r.(?) p.(=) Unknown - likely benign g.89623695C>T g.87863938C>T PTEN(NM_000314.8):c.-532C>T - KLLN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-512G>T r.(?) p.(=) Unknown - likely benign g.89623714G>T - PTEN(NM_000314.8):c.-513G>T - KLLN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-510G>A r.(?) p.(=) Unknown - benign g.89623716G>A g.87863959G>A PTEN(NM_000314.4):c.-510G>A, PTEN(NM_000314.8):c.-511G>A, PTEN(NM_001304717.5):c.10G>A (p.G4R) - PTEN_000600 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-510G>A r.(?) p.(=) Unknown - likely benign g.89623716G>A - PTEN(NM_000314.4):c.-510G>A, PTEN(NM_000314.8):c.-511G>A, PTEN(NM_001304717.5):c.10G>A (p.G4R) - PTEN_000600 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-510G>A r.(?) p.(=) Unknown - likely benign g.89623716G>A - PTEN(NM_000314.4):c.-510G>A, PTEN(NM_000314.8):c.-511G>A, PTEN(NM_001304717.5):c.10G>A (p.G4R) - PTEN_000600 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-490_-485dup r.(?) p.(=) Unknown - likely benign g.89623736_89623741dup g.87863979_87863984dup PTEN(NM_000314.8):c.-495_-490dupCGGCGG - KLLN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-487_-485del r.(?) p.(=) Unknown - likely benign g.89623739_89623741del g.87863982_87863984del PTEN(NM_000314.8):c.-488_-486delGGC - KLLN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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