Full data view for gene PPFIA3

Information The variants shown are described using the NM_003660.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
Legend   How to query  

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.-837C>T r.(?) p.(=) Unknown - VUS g.49622158C>T g.49118901C>T C19orf73(NM_018111.2):c.122G>A (p.(Arg41Gln)) - C19orf73_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 21i_30_ c.(2745+1_2746-1)_*800{0} r.? p.? Maternal (confirmed) - likely pathogenic (dominant) g.(49646262_49649199)_(49654279_?)del g.(49143005_49145942)_(49151022_?)del del ex22-30 - PPFIA3_000001 - Journal: Paul 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam17Pat19 Journal: Paul 2024 2-generation family, affected mother/daughter, unaffected non-carrier parents M - - white >7y8m - - - 1 Johan den Dunnen
+?/. - c.115C>T r.(?) p.(Arg39Cys) Unknown - likely pathogenic (dominant) g.49631245C>T g.49127988C>T - - PPFIA3_000002 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - white >16y - - - 1 Johan den Dunnen
+?/. - c.115C>T r.(?) p.(Arg39Cys) Unknown - likely pathogenic (dominant) g.49631245C>T g.49127988C>T - - PPFIA3_000002 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat2 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - >13y - - - 1 Johan den Dunnen
+?/. - c.118G>A r.(?) p.(Glu40Lys) Unknown - likely pathogenic (dominant) g.49631248G>A g.49127991G>A - - PPFIA3_000003 father not available Journal: Paul 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat3 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier mother F - - white >22y - - - 1 Johan den Dunnen
+?/. - c.239A>C r.(?) p.(Gln80Pro) Unknown - likely pathogenic (dominant) g.49631369A>C g.49128112A>C - - PPFIA3_000004 - Journal: Paul 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat4 Journal: Paul 2024 2-generation family, 1 affected F - - white >1y10m - - - 1 Johan den Dunnen
+?/. - c.240+1G>A r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.49631371G>A g.49128114G>A - - PPFIA3_000005 - Journal: Paul 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5Pat5 Journal: Paul 2024 2-generation family, affected, mother/daughter F - - white >5y - - - 1 Johan den Dunnen
+?/. - c.240+1G>A r.spl p.? Unknown - likely pathogenic (dominant) g.49631371G>A g.49128114G>A - - PPFIA3_000005 - Journal: Paul 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5Pat6 Journal: Paul 2024 mother F - - white >35y - - - 1 Johan den Dunnen
-?/. - c.583-8A>T r.(=) p.(=) Unknown - likely benign g.49633242A>T - PPFIA3(NM_003660.4):c.583-8A>T - PPFIA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.943G>T r.(?) p.(Ala315Ser) Unknown - likely pathogenic (dominant) g.49636321G>T g.49133064G>T - - PPFIA3_000006 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6Pat7 Journal: Paul 2024 2-generation family, affected fetus, unaffected non-carrier parents F - - Latino <0d - - - 1 Johan den Dunnen
+?/. - c.1243C>T r.(?) p.(Arg415Trp) Unknown - likely pathogenic (dominant) g.49637134C>T g.49133877C>T - - PPFIA3_000007 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7Pat8 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - Europe;Asia >8y - - - 1 Johan den Dunnen
+?/. - c.1243C>T r.(?) p.(Arg415Trp) Unknown - likely pathogenic (dominant) g.49637134C>T g.49133877C>T - - PPFIA3_000007 - Journal: Paul 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Fam8Pat9 Journal: Paul 2024 2-generation family, 1 affected F - - Asia >10y9m - - - 1 Johan den Dunnen
+?/. - c.1245+1del r.(?) p.(?) Unknown - likely pathogenic g.49637137del - - - PPFIA3_000019 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1285C>T r.(?) p.(Arg429Trp) Unknown - likely pathogenic (dominant) g.49637330C>T g.49134073C>T - - PPFIA3_000008 variant 0.26 mosaic in sequence reads Journal: Paul 2024 - - Somatic - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9Pat10 Journal: Paul 2024 2-generation family, affected fetus, unaffected non-carrier parents F - - white <0d - - - 1 Johan den Dunnen
+?/. - c.1492C>T r.(?) p.(Arg498Trp) Unknown - likely pathogenic (dominant) g.49638144C>T g.49134887C>T - - PPFIA3_000009 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam10Pat11 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents M - Syria Asia >6y11m - - - 1 Johan den Dunnen
+?/. - c.1638G>T r.(?) p.(Trp546Cys) Unknown - likely pathogenic (dominant) g.49639153G>T g.49135896G>T - - PPFIA3_000010 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam11Pat12 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - white >11y - - - 1 Johan den Dunnen
?/. - c.2276A>G r.(?) p.(Lys759Arg) Paternal (confirmed) - likely pathogenic g.49643253A>G g.49139996A>G - - PPFIA3_000011 inherited from unaffected parent Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam18Pat20 Journal: Paul 2024 2-generation family, 1 affected, unaffected carrier parents M - - white >9y - - - 1 Johan den Dunnen
+?/. - c.2350C>T r.(?) p.(Arg784Trp) Unknown - likely pathogenic (dominant) g.49643327C>T g.49140070C>T - - PPFIA3_000012 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam12Pat13 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - white >16y - - - 1 Johan den Dunnen
?/. - c.2377C>A r.(?) p.(Pro793Thr) Maternal (confirmed) - likely pathogenic g.49644685C>A g.49141428C>A - - PPFIA3_000013 inherited from unaffected parent Journal: Paul 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam18Pat20 Journal: Paul 2024 2-generation family, 1 affected, unaffected carrier parents M - - white >9y - - - 1 Johan den Dunnen
+?/. - c.2609T>A r.(?) p.(Ile870Asn) Unknown - likely pathogenic (dominant) g.49646125T>A g.49142868T>A - - PPFIA3_000014 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam13Pat14 Journal: Paul 2024 2-generation family, affected monozygotic twins, unaffected non-carrier parents F - - white >5y - - - 1 Johan den Dunnen
+?/. - c.2609T>A r.(?) p.(Ile870Asn) Unknown - likely pathogenic (dominant) g.49646125T>A g.49142868T>A - - PPFIA3_000014 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam13Pat15 Journal: Paul 2024 twin F - - white >5y - - - 1 Johan den Dunnen
+?/. - c.2706dup r.(?) p.(Ser903LeufsTer86) Unknown - likely pathogenic (dominant) g.49646222dup g.49142965dup - - PPFIA3_000015 - Journal: Paul 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Fam14Pat16 Journal: Paul 2024 2-generation family, 1 affected M - - white >23y - - - 1 Johan den Dunnen
+?/. - c.2717C>T r.(?) p.(Ser906Leu) Unknown - likely pathogenic (dominant) g.49646233C>T g.49142976C>T - - PPFIA3_000016 - Journal: Paul 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Fam15Pat17 Journal: Paul 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - white >13y11m - - - 1 Johan den Dunnen
+?/. - c.3307del r.(?) p.(Glu1103AsnfsTer8) Unknown - likely pathogenic (dominant) g.49652535del g.49149278del - - PPFIA3_000017 - Journal: Paul 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Fam16Pat18 Journal: Paul 2024 2-generation family, 1 affected F - - white >9y9m - - - 1 Johan den Dunnen
?/. - c.*4124G>A r.(=) p.(=) Unknown - VUS g.49657603G>A g.49154346G>A HRC(NM_002152.2):c.892C>T (p.(Arg298Ter)) - HRC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4140G>T r.(=) p.(=) Unknown - VUS g.49657619G>T g.49154362G>T HRC(NM_002152.2):c.876C>A (p.(Asp292Glu)) - HRC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4260_*4274del r.(=) p.(=) Unknown - VUS g.49657739_49657753del g.49154482_49154496del HRC(NM_002152.2):c.770_784del (p.(Asp257_Asp261del)) - HRC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4263_*4274del r.(=) p.(=) Unknown - VUS g.49657742_49657753del g.49154485_49154496del HRC(NM_002152.2):c.773_784del (p.(Asp258_Asp261del)) - HRC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4272_*4274del r.(=) p.(=) Unknown - VUS g.49657751_49657753del g.49154494_49154496del HRC(NM_002152.2):c.779_781del (p.(Asp261del)), HRC(NM_002152.3):c.782_784delATG (p.D261del) - HRC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4272_*4274del r.(=) p.(=) Unknown - benign g.49657751_49657753del - HRC(NM_002152.2):c.779_781del (p.(Asp261del)), HRC(NM_002152.3):c.782_784delATG (p.D261del) - HRC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4272_*4274dup r.(=) p.(=) Unknown - VUS g.49657751_49657753dup g.49154494_49154496dup HRC(NM_002152.2):c.782_784dup (p.(Asp261dup)) - HRC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4275G>T r.(=) p.(=) Unknown - VUS g.49657754G>T g.49154497G>T HRC(NM_002152.2):c.741C>A (p.(Asp247Glu)) - HRC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4278A>T r.(=) p.(=) Unknown - VUS g.49657757A>T g.49154500A>T HRC(NM_002152.2):c.738T>A (p.(Asp246Glu)) - HRC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4286C>T r.(=) p.(=) Unknown - VUS g.49657765C>T g.49154508C>T HRC(NM_002152.2):c.730G>A (p.(Glu244Lys)) - HRC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4294T>C r.(=) p.(=) Unknown - VUS g.49657773T>C g.49154516T>C HRC(NM_002152.2):c.722A>G (p.(Gln241Arg)) - HRC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4313C>T r.(=) p.(=) Unknown - VUS g.49657792C>T g.49154535C>T HRC(NM_002152.2):c.703G>A (p.(Gly235Ser)) - HRC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4327C>T r.(=) p.(=) Unknown - VUS g.49657806C>T g.49154549C>T HRC(NM_002152.2):c.689G>A (p.(Gly230Glu)) - HRC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.