Full data view for gene PACS2

Information The variants shown are described using the NM_001100913.2 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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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.-103766G>A r.(?) p.(=) Unknown - likely benign g.105677490G>A - BRF1(NM_001519.4):c.1965C>T (p.(Cys655=)) - BRF1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-103740del r.(?) p.(=) Unknown - likely pathogenic g.105677516del - - - BRF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-103619C>A r.(?) p.(=) Unknown - likely benign g.105677637C>A - BRF1(NM_001519.4):c.1825-7G>T - BRF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-97279G>A r.(?) p.(=) Unknown - likely benign g.105683977G>A - BRF1(NM_001242786.1):c.1397C>T (p.(Ala466Val)) - BRF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-97264G>C r.(?) p.(=) Unknown - likely benign g.105683992G>C g.105217655G>C BRF1(NM_001519.4):c.1661C>G (p.P554R) - BRF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-95929G>A r.(?) p.(=) Unknown - likely benign g.105685327G>A - BRF1(NM_001519.4):c.1515+8C>T - BRF1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-93057G>A r.(?) p.(=) Unknown - likely benign g.105688199G>A g.105221862G>A BRF1(NM_001519.4):c.1101C>T (p.D367=) - BRF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-88655C>G r.(?) p.(=) Unknown - likely benign g.105692601C>G - BRF1(NM_001242787.1):c.597G>C (p.(Lys199Asn)) - BRF1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-88245G>T r.(?) p.(=) Unknown - likely pathogenic g.105693011G>T g.105226674G>T - - BRF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-88240dup r.(?) p.(=) Unknown - pathogenic g.105693016dup - BRF1(NM_001519.4):c.876dup (p.(Ser293LeufsTer15)) - BRF1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-86092G>C r.(?) p.(=) Unknown - VUS g.105695164G>C - BRF1(NM_001519.4):c.781C>G (p.R261G) - BRF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-73634G>A r.(?) p.(=) Unknown - likely pathogenic g.105707622G>A g.105241285G>A - - BRF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-73558T>G r.(?) p.(=) Unknown - VUS g.105707698T>G - BRF1(NM_001519.4):c.598A>C (p.N200H) - BRF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-73557C>G r.(?) p.(=) Unknown - VUS g.105707699C>G - BRF1(NM_001519.4):c.597G>C (p.K199N) - BRF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-65626G>A r.(?) p.(=) Unknown - VUS g.105715630G>A - BRF1(NM_001242789.2):c.-165C>T - BRF1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-65567C>T r.(?) p.(=) Unknown - likely benign g.105715689C>T - BTBD6(NM_033271.2):c.307-8C>T (p.(=)) - BRF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-64933G>A r.(?) p.(=) Unknown - VUS g.105716323G>A - BTBD6(NM_033271.2):c.772G>A (p.A258T) - BRF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-58531C>T r.(?) p.(=) Unknown - likely benign g.105722725C>T g.105256388C>T BRF1(NM_001242790.1):c.601G>A (p.V201I) - BRF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5C>A r.(?) p.(Ala2Asp) Unknown - VUS g.105781260C>A - PACS2(NM_001100913.2):c.5C>A (p.(Ala2Asp)) - BRF1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58G>A r.(?) p.(Val20Met) Unknown - VUS g.105781313G>A g.105314976G>A - - PACS2_000005 - PubMed: Minardi 2020 - - Germline - - - - - DNA SEQ-NG-I - - EIEE - PubMed: Minardi 2020 - M - Italy - - - - - 1 Francesca Bisulli
-?/. - c.70C>T r.(?) p.(Leu24=) Unknown - likely benign g.105781325C>T g.105314988C>T PACS2(NM_001100913.2):c.70C>T (p.L24=) - PACS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119+5G>C r.spl? p.? Unknown - VUS g.105781379G>C - PACS2(NM_001100913.3):c.119+5G>C - BRF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.119+5899G>A r.(=) p.(=) Unknown - likely benign g.105787273G>A - PACS2(NM_001100913.3):c.119+5899G>A - BRF1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.120G>A r.(?) p.(=) Unknown - VUS g.105814830G>A - PACS2(NM_001100913.3):c.120G>A (p.R40=) - BRF1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181T>G r.(?) p.(Ser61Ala) Unknown - likely benign g.105814891T>G - PACS2(NM_001100913.3):c.181T>G (p.S61A) - BRF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223C>A r.(?) p.(Leu75Met) Unknown - VUS g.105818730C>A g.105352393C>A PACS2(NM_001100913.2):c.223C>A (p.L75M) - BRF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.287_289del r.(?) p.(Phe96del) Unknown - VUS g.105818794_105818796del - PACS2(NM_001100913.2):c.287_289delTCT (p.(Phe96del)) - BRF1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348G>A r.(?) p.(Gln116=) Unknown - likely benign g.105821439G>A - PACS2(NM_001100913.3):c.348G>A (p.Q116=) - BRF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.424-5052G>A r.(=) p.(=) Unknown - likely benign g.105828498G>A - PACS2(NM_001100913.3):c.424-5052G>A - BRF1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.490G>A r.(?) p.(Val164Ile) Unknown - likely benign g.105833616G>A g.105367279G>A PACS2(NM_001100913.2):c.490G>A (p.(Val164Ile)) - BRF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490G>T r.(?) p.(Val164Phe) Unknown - VUS g.105833616G>T - PACS2(NM_001100913.3):c.490G>T (p.V164F) - BRF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.586+7G>T r.(=) p.(=) Unknown - likely benign g.105833719G>T - PACS2(NM_001100913.3):c.586+7G>T - BRF1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.610G>A r.(?) p.(Glu204Lys) Unknown - likely pathogenic g.105834434G>A g.105368097G>A - - BRF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - VUS g.105834449G>A g.105368112G>A PACS2(NM_001100913.2):c.625G>A (p.(Glu209Lys)), PACS2(NM_001100913.3):c.625G>A (p.E209K) - PACS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A PACS2(NM_001100913.2):c.625G>A (p.(Glu209Lys)), PACS2(NM_001100913.3):c.625G>A (p.E209K) - PACS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 29656858-Pat1 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat2 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat3 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat4 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat5 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat6 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat7 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat8 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat9 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat10 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat11 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat12 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat13 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Olson 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 29656858-Pat14 PubMed: Olson 2018 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A g.105368112G>A - - PACS2_000003 - - - - De novo - - - - - DNA SEQ, SEQ-NG-I Peripheral blood - epilepsy patient8 - - F no China - - - - - 1 Jinliang Li
+/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A - - - PACS2_000003 - - - - De novo - - - - - DNA SEQ-NG - - ? 85 - - M - China - - - - - 1 Sha Hong
+/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A - PACS2(NM_001100913.2):c.625G>A (p.(Glu209Lys)), PACS2(NM_001100913.3):c.625G>A (p.E209K) - PACS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic g.105834449G>A - PACS2(NM_001100913.2):c.625G>A (p.(Glu209Lys)), PACS2(NM_001100913.3):c.625G>A (p.E209K) - PACS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic (dominant) g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2234.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.625G>A r.(?) p.(Glu209Lys) Unknown - pathogenic (dominant) g.105834449G>A g.105368112G>A - - PACS2_000003 - PubMed: Saneto 2022, Journal: Saneto 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES seizures patient PubMed: Saneto 2022, Journal: Saneto 2022 - M - United States - - - - - 1 Johan den Dunnen
-?/. - c.720A>G r.(?) p.(=) Unknown - likely benign g.105834855A>G - PACS2(NM_001243127.3):c.516+3A>G - BRF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.729G>A r.(?) p.(Thr243=) Unknown - likely benign g.105834864G>A g.105368527G>A PACS2(NM_001100913.3):c.729G>A (p.T243=) - BRF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.802-6G>A r.(=) p.(=) Unknown - likely benign g.105843099G>A - PACS2(NM_001100913.3):c.802-6G>A - BRF1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.878T>C r.(?) p.(Leu293Pro) Unknown - likely benign g.105843181T>C - PACS2(NM_001100913.2):c.878T>C (p.(Leu293Pro)) - BRF1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.898G>A r.(?) p.(Asp300Asn) Unknown - likely benign g.105843201G>A - PACS2(NM_001100913.2):c.898G>A (p.(Asp300Asn)) - BRF1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960-1180G>A r.(=) p.(=) Unknown - likely benign g.105844896G>A - PACS2(NM_001100913.3):c.960-1180G>A - BRF1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986C>G r.(?) p.(Ser329Trp) Unknown - VUS g.105846102C>G - - - PACS2_000006 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.989G>A r.(?) p.(Ser330Asn) Unknown - likely benign g.105846105G>A - PACS2(NM_001100913.2):c.989G>A (p.(Ser330Asn)) - BRF1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1197T>G r.(?) p.(Asp399Glu) Unknown - VUS g.105847365T>G g.105381028T>G PACS2(NM_001100913.2):c.1197T>G (p.D399E) - PACS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1205C>T r.(?) p.(Thr402Met) Unknown - likely benign g.105847373C>T g.105381036C>T PACS2(NM_001100913.2):c.1205C>T (p.T402M) - BRF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1321C>T r.(?) p.(Arg441Trp) Unknown - likely benign g.105848303C>T - PACS2(NM_001100913.2):c.1321C>T (p.(Arg441Trp)) - BRF1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1471C>T r.(?) p.(Leu491Phe) Unknown - VUS g.105848871C>T - PACS2(NM_001100913.3):c.1471C>T (p.L491F) - BRF1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1555G>A r.(?) p.(Val519Met) Unknown - VUS g.105849180G>A g.105382843G>A PACS2(NM_001100913.2):c.1555G>A (p.(Val519Met)) - PACS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1673C>T r.(?) p.(Ala558Val) Unknown - likely benign g.105849743C>T - PACS2(NM_001100913.2):c.1673C>T (p.(Ala558Val)) - BRF1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1740C>T r.(?) p.(=) Unknown - likely benign g.105849810C>T - PACS2(NM_001100913.3):c.1740C>T (p.P580=) - BRF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2043_2045del r.(?) p.(Glu682del) Unknown - VUS g.105856307_105856309del - PACS2(NM_001100913.2):c.2043_2045delAGA (p.(Glu682del)) - BRF1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2047T>A r.(?) p.(Ser683Thr) Unknown - VUS g.105856311T>A - PACS2(NM_001100913.2):c.2047T>A (p.(Ser683Thr)), PACS2(NM_001100913.3):c.2047T>A (p.S683T) - BRF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2047T>A r.(?) p.(Ser683Thr) Unknown - likely benign g.105856311T>A - PACS2(NM_001100913.2):c.2047T>A (p.(Ser683Thr)), PACS2(NM_001100913.3):c.2047T>A (p.S683T) - BRF1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2133C>G r.(?) p.(Asp711Glu) Unknown - likely benign g.105857981C>G - PACS2(NM_001100913.3):c.2133C>G (p.D711E) - BRF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2214G>C r.(?) p.(Pro738=) Unknown - likely benign g.105858062G>C g.105391725G>C PACS2(NM_001100913.2):c.2214G>C (p.P738=) - BRF1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2216C>T r.(?) p.(Pro739Leu) Unknown - likely benign g.105858064C>T - PACS2(NM_001100913.3):c.2216C>T (p.(Pro739Leu)) - BRF1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2221T>A r.(?) p.(Ser741Thr) Unknown - VUS g.105858069T>A g.105391732T>A PACS2(NM_001100913.3):c.2221T>A (p.S741T) - BRF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2272G>A r.(?) p.(Glu758Lys) Unknown - VUS g.105858972G>A - PACS2(NM_001100913.3):c.2272G>A (p.E758K) - BRF1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2686A>G r.(?) p.(Ile896Val) Unknown - likely benign g.105860980A>G g.105394643A>G PACS2(NM_001100913.2):c.2686A>G (p.I896V) - BRF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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