Full data view for gene NPRL3

Information The variants shown are described using the NM_001077350.2 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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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     

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Age at death     

VIP     

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Owner     
?/. - c.-67-34A>C r.(=) p.(=) Unknown - VUS g.188367T>G - NPRL3(NM_001243248.2):c.-69A>C - HBZ_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-67-2_-38del r.spl? p.? Unknown - VUS g.188346_188377del g.138347_138378del NPRL3(NM_001039476.2):c.-401_-370del (p.(=)) - NPRL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4C>T r.(?) p.? Unknown - VUS g.188263G>A - NPRL3(NM_001077350.3):c.4C>T (p.(Arg2Trp)) - HBZ_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.85C>T r.(?) p.? Unknown - pathogenic g.188182G>A - NPRL3(NM_001077350.3):c.85C>T (p.Q29*) - HBZ_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.119-3C>G r.spl? p.? Unknown - likely pathogenic g.180593G>C - NPRL3(NM_001077350.3):c.119-3C>G, NPRL3(NM_001243249.2):c.119-3C>G - MPG_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119-3C>G r.spl? p.? Unknown - VUS g.180593G>C - NPRL3(NM_001077350.3):c.119-3C>G, NPRL3(NM_001243249.2):c.119-3C>G - MPG_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127C>T r.(?) p.(Arg43Cys) Unknown - VUS g.180582G>A - NPRL3(NM_001243249.1):c.127C>T (p.R43C) - MPG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.180C>T r.(?) p.(Gly60=) Parent #1 - benign g.180529G>A g.130530G>A - - NPRL3_000007 165 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75187722 Germline - 165/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 165 Mohammed Faruq
-/. - c.180C>T r.(?) p.(Gly60=) Both (homozygous) - benign g.180529G>A g.130530G>A - - NPRL3_000007 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75187722 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+?/. - c.188+1G>T r.(?) p.(?) Unknown - likely pathogenic g.180520C>A - - - NPRL3_000010 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.188+5443_188+5445del r.(=) p.(=) Unknown - benign g.175094_175096del - NPRL3(NM_001077350.3):c.188+5443_188+5445delTTT - MPG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.188+5445del r.(=) p.(=) Unknown - likely benign g.175096del g.125097del NPRL3(NM_001243247.1):c.-183-4delT (p.(=)) - MPG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.188+5445dup r.(=) p.(=) Unknown - benign g.175096dup - NPRL3(NM_001077350.3):c.188+5445dupT - MPG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.249dup r.(?) p.(Phe84Ilefs*2) Unknown ACMG likely pathogenic (dominant) g.169198dup g.119199dup - - NPRL3_000009 ACMG: PVS1, PM2_SUP; found together in individual with pathogenic PTPN11 variant c.794G>A p.(Arg265Gln) heterozygot - - - Germline ? - - - - DNA SEQ-NG-I - - FFEVF3, NS1 212980 - - F no Germany - - - - - 1 Andreas Laner
-?/. - c.286C>T r.(?) p.? Unknown - likely benign g.169157G>A - - - MPG_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.318+8T>G r.(=) p.(=) Unknown - VUS g.169117A>C g.119118A>C NPRL3(NM_001077350.2):c.318+8T>G (p.(=)) - MPG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318+8T>G r.(=) p.(=) Unknown - likely benign g.169117A>C - NPRL3(NM_001077350.2):c.318+8T>G (p.(=)) - MPG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4i c.319-2A>G r.[319_393del,=] p.Ile107_Arg131del Unknown - VUS g.167376T>C g.117377T>C - - NPRL3_000011 effect on RNA exclusion of exon - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+?/. - c.319-1G>A r.spl p.? Paternal (confirmed) ACMG likely pathogenic (dominant) g.167375C>T g.117376C>T - - NPRL3_000008 ACMG: PVS1_STR, PS4_SUP, PM2_SUP; variant also present in affected father and brother - - - Germline yes - - - - DNA SEQ-NG-I - - FFEVF3 192016 - - M ? Croatia (Hrvatska) - - - - - 1 Andreas Laner
?/. - c.428A>G r.(?) p.(His143Arg) Unknown - VUS g.162740T>C - - - MPG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.439C>T r.(?) p.(Arg147Cys) Unknown - likely benign g.162729G>A - NPRL3(NM_001077350.3):c.439C>T (p.R147C) - MPG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439C>T r.(?) p.(Arg147Cys) Paternal (confirmed) - VUS g.162729G>A g.112730G>A - - MPG_000022 - PubMed: Yin 2023 - - Germline no - - - - DNA SEQ - gene panel epilepsy family PubMed: Yin 2023 3-generation family, 3 affected (F, 2M) F;M - China - - - - - 1 Johan den Dunnen
-?/. - c.442C>T r.(?) p.(Arg148Cys) Unknown - likely benign g.162726G>A - NPRL3(NM_001077350.3):c.442C>T (p.R148C) - MPG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.444dup r.(?) p.(Ile149Tyrfs*28) Unknown - pathogenic g.162724dup - NPRL3(NM_001077350.3):c.444dupT (p.I149Yfs*28) - MPG_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447C>T r.(?) p.(Ile149=) Unknown - likely benign g.162721G>A - NPRL3(NM_001077350.3):c.447C>T (p.I149=), NPRL3(NM_001243248.1):c.372C>T (p.I124=) - MPG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447C>T r.(?) p.(Ile149=) Unknown - likely benign g.162721G>A - NPRL3(NM_001077350.3):c.447C>T (p.I149=), NPRL3(NM_001243248.1):c.372C>T (p.I124=) - MPG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.629+9G>C r.(=) p.(=) Unknown - benign g.160514C>G g.110516C>G NPRL3(NM_001077350.2):c.629+9G>C, NPRL3(NM_001243249.1):c.554+9G>C - NPRL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629+9G>C r.(=) p.(=) Unknown - likely benign g.160514C>G g.110516C>G NPRL3(NM_001077350.2):c.629+9G>C, NPRL3(NM_001243249.1):c.554+9G>C - NPRL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.682_683dup r.(?) p.(Ser228Argfs*16) Unknown - likely pathogenic g.150455_150456dup g.100457_100458dup - - NPRL3_000005 - - - - Somatic - - - - - DNA SEQ-NG Brain tissue gene panel FCORD2 patient3 - - F ? - - - - - - 1 Lisa-Marie Niestroj
-?/. - c.745G>A r.(?) p.(Glu249Lys) Unknown - likely benign g.150392C>T - NPRL3(NM_001077350.3):c.745G>A (p.E249K) - MPG_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768-10T>G r.(=) p.(=) Unknown - likely benign g.148309A>C g.98311A>C NPRL3(NM_001243249.1):c.693-10T>G - MPG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.886C>T r.(?) p.(Gln296*) Unknown - likely pathogenic g.148181G>A - - - MPG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.905C>T r.(?) p.(Ala302Val) Unknown - VUS g.148162G>A - NPRL3(NM_001243249.1):c.830C>T (p.A277V) - MPG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023C>T r.(?) p.(Ser341=) Unknown - likely benign g.143225G>A g.93227G>A NPRL3(NM_001243249.1):c.948C>T (p.S316=) - MPG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1023C>T r.(?) p.(Ser341=) Unknown - likely benign g.143225G>A - NPRL3(NM_001243249.1):c.948C>T (p.S316=) - MPG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1024G>T r.(?) p.(Val342Leu) Unknown - likely benign g.143224C>A g.93226C>A NPRL3(NM_001243249.1):c.949G>T (p.V317L) - MPG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1024G>T r.(?) p.(Val342Leu) Unknown - likely benign g.143224C>A g.93226C>A NPRL3(NM_001243249.1):c.949G>T (p.V317L) - MPG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1041G>A r.(?) p.(Pro347=) Parent #1 - benign g.142714C>T g.92716C>T - - NPRL3_000006 49 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1128426 Germline - 49/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 49 Mohammed Faruq
-?/. - c.1097C>T r.(?) p.? Unknown - likely benign g.142658G>A - NPRL3(NM_001243247.1):c.863C>T (p.(Thr288Ile)) - MPG_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1153G>T r.(?) p.(Val385Leu) Unknown - likely benign g.142602C>A g.92604C>A NPRL3(NM_001077350.2):c.1153G>T (p.V385L) - NPRL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1197G>A r.(?) p.(Gln399=) Unknown - likely benign g.139865C>T - NPRL3(NM_001243249.1):c.1122G>A (p.Q374=) - MPG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1215G>C r.(?) p.(Gln405His) Unknown - VUS g.139847C>G g.89849C>G - - MPG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1264C>T r.(?) p.(Arg422Cys) Unknown - VUS g.139798G>A g.89800G>A NPRL3(NM_001243249.1):c.1189C>T (p.R397C) - MPG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278C>G r.(?) p.? Unknown - likely benign g.139784G>C - NPRL3(NM_001077350.3):c.1278C>G (p.(Asp426Glu)) - MPG_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1298G>A r.(?) p.(Arg433Gln) Unknown - likely benign g.139764C>T g.89766C>T NPRL3(NM_001077350.2):c.1298G>A (p.R433Q), NPRL3(NM_001077350.3):c.1298G>A (p.(Arg433Gln)), NPRL3(NM_001243249.2):c.1223G>A (p.R408Q) - MPG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1298G>A r.(?) p.(Arg433Gln) Unknown - VUS g.139764C>T g.89766C>T NPRL3(NM_001077350.2):c.1298G>A (p.R433Q), NPRL3(NM_001077350.3):c.1298G>A (p.(Arg433Gln)), NPRL3(NM_001243249.2):c.1223G>A (p.R408Q) - MPG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1298G>A r.(?) p.(Arg433Gln) Unknown - likely benign g.139764C>T - NPRL3(NM_001077350.2):c.1298G>A (p.R433Q), NPRL3(NM_001077350.3):c.1298G>A (p.(Arg433Gln)), NPRL3(NM_001243249.2):c.1223G>A (p.R408Q) - MPG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1309C>T r.(?) p.(Arg437Cys) Unknown - VUS g.139753G>A - NPRL3(NM_001077350.3):c.1309C>T (p.R437C) - MPG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1310G>A r.(?) p.(Arg437His) Unknown - VUS g.139752C>T g.89754C>T NPRL3(NM_001243249.2):c.1235G>A (p.R412H) - MPG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1485G>A r.(?) p.? Unknown - likely benign g.138755C>T - NPRL3(NM_001077350.3):c.1483G>A (p.(Ala495Thr)) - MPG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1516A>T r.(?) p.(Asn506Tyr) Unknown - likely benign g.138725T>A g.88726T>A NPRL3(NM_001077350.3):c.1516A>T (p.N506Y), NPRL3(NM_001243249.1):c.1440A>T (p.Q480H) - NPRL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1516A>T r.(?) p.(Asn506Tyr) Unknown - VUS g.138725T>A - NPRL3(NM_001077350.3):c.1516A>T (p.N506Y), NPRL3(NM_001243249.1):c.1440A>T (p.Q480H) - NPRL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1543+20T>C r.(=) p.(=) Unknown - likely benign g.138677A>G - NPRL3(NM_001077350.3):c.1544+20T>C - MPG_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1545-1G>C r.spl? p.? Unknown - likely pathogenic g.136870C>G - - - MPG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1567C>T r.(?) p.(Arg523Cys) Unknown - VUS g.136847G>A - NPRL3(NM_001243248.1):c.1492C>T (p.R498C) - MPG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1643G>A r.(?) p.(Arg548His) Unknown - VUS g.136771C>T - NPRL3(NM_001243249.1):c.1567G>A (p.G523S) - MPG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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