All variants in the PLCE1 gene

Information The variants shown are described using the NM_016341.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.-135G>A r.(?) p.(=) - benign g.95790669G>A g.94030912G>A - - PLCE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.227C>T r.(?) p.(Ala76Val) - benign g.95791030C>T g.94031273C>T PLCE1(NM_016341.3):c.227C>T (p.A76V) - PLCE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.810T>C r.(?) p.(Cys270=) - benign g.95791613T>C g.94031856T>C PLCE1(NM_016341.3):c.810T>C (p.C270=) - PLCE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.810T>C r.(?) p.(Cys270=) - benign g.95791613T>C g.94031856T>C PLCE1(NM_016341.3):c.810T>C (p.C270=) - PLCE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.810T>C r.(?) p.(Cys270=) - benign g.95791613T>C g.94031856T>C PLCE1(NM_016341.3):c.810T>C (p.C270=) - PLCE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.960G>A r.(?) p.(Glu320=) - benign g.95791763G>A g.94032006G>A PLCE1(NM_016341.3):c.960G>A (p.E320=) - PLCE1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.960G>A r.(?) p.(Glu320=) - benign g.95791763G>A g.94032006G>A PLCE1(NM_016341.3):c.960G>A (p.E320=) - PLCE1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.960G>A r.(?) p.(Glu320=) - benign g.95791763G>A g.94032006G>A PLCE1(NM_016341.3):c.960G>A (p.E320=) - PLCE1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1207-43007T>C r.(=) p.(=) - benign g.95848924T>C g.94089167T>C PLCE1(NM_001165979.2):c.73T>C (p.F25L) - PLCE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1207-42809A>T r.(=) p.(=) - VUS g.95849122A>T g.94089365A>T PLCE1(NM_001165979.2):c.271A>T (p.K91*) - PLCE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1400C>T r.(?) p.(Thr467Ile) - VUS g.95892124C>T g.94132367C>T - - PLCE1_000047 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs192219615 Germline - 2/2795 individuals - 0 - Mohammed Faruq
?/. - c.1400C>T r.(?) p.(Thr467Ile) - VUS g.95892124C>T - PLCE1(NM_016341.3):c.1400C>T (p.T467I) - PLCE1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1400C>T r.(?) p.(Thr467Ile) - likely benign g.95892124C>T - PLCE1(NM_016341.3):c.1400C>T (p.T467I) - PLCE1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1405T>A r.(?) p.(Ser469Thr) - benign g.95892129T>A g.94132372T>A PLCE1(NM_016341.3):c.1405T>A (p.S469T) - PLCE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1405T>A r.(?) p.(Ser469Thr) - benign g.95892129T>A g.94132372T>A PLCE1(NM_016341.3):c.1405T>A (p.S469T) - PLCE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1477C>T r.(?) p.(Arg493Ter) - pathogenic g.95892201C>T g.94132444C>T - - PLCE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1477C>T r.(?) p.(Arg493*) - pathogenic g.95892201C>T g.94132444C>T NM_001165979.1:c.553C>T - PLCE1_000029 - PubMed: Lionel 2018 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1495C>T r.(?) p.(Arg499Cys) - VUS g.95930939C>T g.94171182C>T PLCE1(NM_001165979.1):c.571C>T (p.(Arg191Cys)), PLCE1(NM_016341.3):c.1495C>T (p.R499C) - PLCE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1495C>T r.(?) p.(Arg499Cys) - VUS g.95930939C>T g.94171182C>T PLCE1(NM_001165979.1):c.571C>T (p.(Arg191Cys)), PLCE1(NM_016341.3):c.1495C>T (p.R499C) - PLCE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1495C>T r.(?) p.(Arg499Cys) - benign g.95930939C>T g.94171182C>T PLCE1(NM_001165979.1):c.571C>T (p.(Arg191Cys)), PLCE1(NM_016341.3):c.1495C>T (p.R499C) - PLCE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1495C>T r.(?) p.(Arg499Cys) - VUS g.95930939C>T g.94171182C>T - - PLCE1_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61751493 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.1495C>T r.(?) p.(Arg499Cys) - VUS g.95930939C>T - PLCE1(NM_001165979.1):c.571C>T (p.(Arg191Cys)), PLCE1(NM_016341.3):c.1495C>T (p.R499C) - PLCE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1504G>A r.(?) p.(Gly502Ser) - likely benign g.95930948G>A - - - PLCE1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1531C>T r.(?) p.(Leu511Phe) - VUS g.95930975C>T - PLCE1(NM_016341.3):c.1531C>T (p.L511F) - PLCE1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1643G>A r.(?) p.(Arg548His) - VUS g.95931087G>A - PLCE1(NM_016341.3):c.1643G>A (p.R548H) - PLCE1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1643G>T r.(?) p.(Arg548Leu) - benign g.95931087G>T g.94171330G>T PLCE1(NM_016341.3):c.1643G>T (p.R548L) - PLCE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1643G>T r.(?) p.(Arg548Leu) - benign g.95931087G>T g.94171330G>T PLCE1(NM_016341.3):c.1643G>T (p.R548L) - PLCE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1643G>T r.(?) p.(Arg548Leu) - benign g.95931087G>T g.94171330G>T PLCE1(NM_016341.3):c.1643G>T (p.R548L) - PLCE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1927G>A r.(?) p.(Ala643Thr) - VUS g.95987180G>A - - - PLCE1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1927G>T r.(?) p.(Ala643Ser) - likely benign g.95987180G>T g.94227423G>T PLCE1(NM_001165979.1):c.1003G>T (p.(Ala335Ser)) - PLCE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1956-48C>T r.(=) p.(=) - benign g.95993763C>T g.94234006C>T PLCE1(NM_016341.3):c.1956-48C>T - PLCE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.2032A>G r.(?) p.(Met678Val) - VUS g.95993887A>G - PLCE1(NM_016341.3):c.2032A>G (p.M678V) - PLCE1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2076A>T r.(?) p.(Thr692=) - likely benign g.95993931A>T g.94234174A>T PLCE1(NM_016341.3):c.2076A>T (p.T692=) - PLCE1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2076A>T r.(?) p.(Thr692=) - likely benign g.95993931A>T - PLCE1(NM_016341.3):c.2076A>T (p.T692=) - PLCE1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.2214+7C>T r.(=) p.(=) - benign g.95994076C>T - PLCE1(NM_016341.3):c.2214+7C>T - PLCE1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2303A>C r.(?) p.(Asn768Thr) - VUS g.95995760A>C - PLCE1(NM_016341.3):c.2303A>C (p.N768T) - PLCE1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2352C>T r.(?) p.(Asp784=) - benign g.95995809C>T g.94236052C>T - - PLCE1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2692A>G r.(?) p.(Thr898Ala) - likely benign g.96005974A>G - PLCE1(NM_001165979.1):c.1768A>G (p.(Thr590Ala)) - PLCE1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2728G>A r.(?) p.(Val910Ile) - likely benign g.96006010G>A - PLCE1(NM_016341.3):c.2728G>A (p.V910I) - PLCE1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 7 c.2827G>C r.(?) p.(Ala943Pro) - likely pathogenic g.96006109G>C g.94246352G>C - - PLCE1_000003 not in 100 control chromosomes; not in 7 healthy relatives in homozygous state (relatives were either heterozygotes or negative for the variant) - - - Germline ? - - 0 - Irene (Eirini) Fylaktou
-?/. - c.3000C>T r.(?) p.(Ser1000=) - likely benign g.96006282C>T - PLCE1(NM_001165979.1):c.2076C>T (p.(=)) - PLCE1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.3058C>T r.(?) p.(Gln1020Ter) - pathogenic g.96006340C>T g.94246583C>T - - PLCE1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.3132C>T r.(?) p.(His1044=) - benign g.96012108C>T g.94252351C>T - - PLCE1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.3279+12T>C r.(=) p.(=) - likely benign g.96012267T>C - PLCE1(NM_016341.3):c.3279+12T>C - PLCE1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3565A>G r.(?) p.(Ser1189Gly) - likely benign g.96018567A>G - PLCE1(NM_016341.3):c.3565A>G (p.S1189G) - PLCE1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 12 c.3583C>T r.(?) p.(Arg1195Trp) - VUS g.96018585C>T g.94258828C>T - - PLCE1_000002 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - 0 - Elisabet Ars Criach
+/. - c.3679del r.(?) p.(Val1227Serfs*7) - pathogenic g.96018772del - - - PLCE1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3814+13T>G r.(=) p.(=) - likely benign g.96018920T>G - PLCE1(NM_016341.3):c.3814+13T>G - PLCE1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.3814+122A>T r.(=) p.(=) - benign g.96019029A>T g.94259272A>T PLCE1(NM_016341.3):c.3814+122A>T - PLCE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3837G>A r.(?) p.(Ser1279=) - likely benign g.96022273G>A - PLCE1(NM_016341.3):c.3837G>A (p.S1279=) - PLCE1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4054-13del r.(=) p.(=) - benign g.96025391del g.94265634del PLCE1(NM_016341.3):c.4054-13delT - PLCE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.4263G>A r.(?) p.(Ser1421=) - benign g.96025697G>A g.94265940G>A - - PLCE1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.4280A>G r.(?) p.(Gln1427Arg) - VUS g.96025714A>G - PLCE1(NM_001165979.1):c.3356A>G (p.(Gln1119Arg)) - PLCE1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.4282-54G>A r.(=) p.(=) - benign g.96028632G>A g.94268875G>A PLCE1(NM_016341.3):c.4282-54G>A - PLCE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.4318T>A r.(?) p.(Cys1440Ser) - VUS g.96028722T>A g.94268965T>A PLCE1(NM_016341.3):c.4318T>A (p.C1440S) - PLCE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.4451C>T r.(?) p.(Ser1484Leu) - pathogenic g.96030304C>T g.94270547C>T - - PLCE1_000048 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121912605 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.4463A>C r.(?) p.(His1488Pro) - VUS g.96030316A>C g.94270559A>C - - PLCE1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.4640C>T r.(?) p.(Thr1547Met) - VUS g.96033452C>T - PLCE1(NM_016341.3):c.4640C>T (p.T1547M) - PLCE1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4724G>C r.(?) p.(Arg1575Pro) - benign g.96039597G>C g.94279840G>C PLCE1(NM_016341.3):c.4724G>C (p.R1575P), PLCE1-AS1(NR_033969.1):n.858C>G - PLCE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.4724G>C r.(?) p.(Arg1575Pro) - benign g.96039597G>C g.94279840G>C PLCE1(NM_016341.3):c.4724G>C (p.R1575P), PLCE1-AS1(NR_033969.1):n.858C>G - PLCE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.4733A>G r.(?) p.(Asn1578Ser) - benign g.96039606A>G g.94279849A>G PLCE1(NM_016341.3):c.4733A>G (p.N1578S) - PLCE1-AS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.4795+42T>C r.(=) p.(=) - benign g.96039710T>C g.94279953T>C PLCE1(NM_016341.3):c.4795+42T>C - PLCE1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.4848G>T r.(?) p.(Gln1616His) - likely benign g.96043599G>T g.94283842G>T PLCE1(NM_001165979.1):c.3924G>T (p.(Gln1308His)) - PLCE1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.4918-109G>A r.(=) p.(=) - benign g.96044496G>A g.94284739G>A PLCE1(NM_016341.3):c.4918-109G>A - PLCE1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5035+12C>A r.(=) p.(=) - benign g.96044734C>A g.94284977C>A PLCE1(NM_016341.3):c.5035+12C>A, PLCE1-AS1(NR_033969.1):n.231-1491G>T - PLCE1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.5035+12C>A r.(=) p.(=) - benign g.96044734C>A g.94284977C>A PLCE1(NM_016341.3):c.5035+12C>A, PLCE1-AS1(NR_033969.1):n.231-1491G>T - PLCE1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5035+12C>A r.(=) p.(=) - benign g.96044734C>A g.94284977C>A PLCE1(NM_016341.3):c.5035+12C>A, PLCE1-AS1(NR_033969.1):n.231-1491G>T - PLCE1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.5186G>A r.(?) p.(Arg1729Gln) - VUS g.96058154G>A - PLCE1(NM_016341.3):c.5186G>A (p.R1729Q) - PLCE1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.5330C>T r.(?) p.(Thr1777Ile) - benign g.96058298C>T g.94298541C>T PLCE1(NM_016341.3):c.5330C>T (p.T1777I) - PLCE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.5330C>T r.(?) p.(Thr1777Ile) - benign g.96058298C>T g.94298541C>T PLCE1(NM_016341.3):c.5330C>T (p.T1777I) - PLCE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5458+7G>A r.(=) p.(=) - benign g.96058433G>A g.94298676G>A - - PLCE1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.5559T>G r.(?) p.(Tyr1853Ter) - pathogenic g.96064339T>G g.94304582T>G - - PLCE1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.5578G>T r.(?) p.(Glu1860Ter) - pathogenic g.96064358G>T g.94304601G>T - - PLCE1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.5669C>T r.(?) p.(Pro1890Leu) - benign g.96066230C>T - PLCE1(NM_016341.3):c.5669C>T (p.P1890L) - PLCE1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 26 c.5714A>G r.(?) p.(His1905Arg) - VUS g.96066275A>G g.94306518A>G - - PLCE1_000001 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - 0 - Elisabet Ars Criach
-/. - c.5780A>G r.(?) p.(His1927Arg) - benign g.96066341A>G g.94306584A>G PLCE1(NM_016341.3):c.5780A>G (p.H1927R) - PLCE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.5780A>G r.(?) p.(His1927Arg) - benign g.96066341A>G g.94306584A>G PLCE1(NM_016341.3):c.5780A>G (p.H1927R) - PLCE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.5780A>G r.(?) p.(His1927Arg) - benign g.96066341A>G g.94306584A>G PLCE1(NM_016341.3):c.5780A>G (p.H1927R) - PLCE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.6133-54G>T r.(=) p.(=) - benign g.96076250G>T g.94316493G>T PLCE1(NM_016341.3):c.6133-54G>T - PLCE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.6169A>C r.(?) p.(Thr2057Pro) - likely benign g.96076340A>C g.94316583A>C PLCE1(NM_016341.3):c.6169A>C (p.T2057P) - PLCE1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.6324C>G r.(?) p.(Val2108=) - benign g.96076495C>G g.94316738C>G - - PLCE1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.6377_6378del r.(?) p.(Lys2126ArgfsTer17) - pathogenic g.96081692_96081693del g.94321935_94321936del PLCE1(NM_016341.3):c.6377_6378delAA (p.K2126Rfs*17) - PLCE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.6564G>A r.(?) p.(Val2188=) - likely benign g.96084168G>A g.94324411G>A PLCE1(NM_016341.3):c.6564G>A (p.V2188=) - PLCE1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.6752C>A r.(?) p.(Ser2251Tyr) - VUS g.96084680C>A g.94324923C>A PLCE1(NM_001165979.1):c.5828C>A (p.(Ser1943Tyr)) - PLCE1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.6825C>T r.(?) p.(Leu2275=) - likely benign g.96084753C>T g.94324996C>T PLCE1(NM_016341.3):c.6825C>T (p.L2275=) - PLCE1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*5G>C r.(=) p.(=) - benign g.96084842G>C g.94325085G>C PLCE1(NM_016341.3):c.*5G>C - PLCE1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.*28A>G r.(=) p.(=) - benign g.96087728A>G g.94327971A>G - - PLCE1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.*166G>C r.(=) p.(=) - likely benign g.96087866G>C g.94328109G>C - - PLCE1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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