Full data view for gene PFKL

Information The variants shown are described using the NM_002626.4 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.-3720G>A r.(?) p.(=) Unknown - likely benign g.45716269G>A g.44296386G>A AIRE(NM_000383.2):c.1507G>A (p.D503N) - AIRE_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3664C>A r.(?) p.(=) Unknown - VUS g.45716325C>A - AIRE(NM_000383.4):c.1563C>A (p.S521R) - AIRE_000556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3653C>T r.(?) p.(=) Unknown - likely benign g.45716336C>T g.44296453C>T AIRE(NM_000383.2):c.1566+8C>T - AIRE_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3653C>T r.(?) p.(=) Unknown - likely benign g.45716336C>T g.44296453C>T AIRE(NM_000383.2):c.1566+8C>T - AIRE_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3653C>T r.(?) p.(=) Unknown - likely benign g.45716336C>T - AIRE(NM_000383.2):c.1566+8C>T - AIRE_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2455C>T r.(?) p.(=) Unknown - likely benign g.45717534C>T g.44297651C>T AIRE(NM_000383.2):c.1567-5C>T, AIRE(NM_000383.4):c.1567-5C>T - AIRE_000520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2455C>T r.(?) p.(=) Unknown - benign g.45717534C>T g.44297651C>T AIRE(NM_000383.2):c.1567-5C>T, AIRE(NM_000383.4):c.1567-5C>T - AIRE_000520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2455C>T r.(?) p.(=) Unknown - likely benign g.45717534C>T g.44297651C>T AIRE(NM_000383.2):c.1567-5C>T, AIRE(NM_000383.4):c.1567-5C>T - AIRE_000520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2439T>C r.(?) p.(=) Unknown - benign g.45717550T>C g.44297667T>C AIRE(NM_000383.2):c.1578T>C (p.D526=), AIRE(NM_000383.4):c.1578T>C (p.D526=) - AIRE_000521 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2439T>C r.(?) p.(=) Unknown - benign g.45717550T>C g.44297667T>C AIRE(NM_000383.2):c.1578T>C (p.D526=), AIRE(NM_000383.4):c.1578T>C (p.D526=) - AIRE_000521 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2439T>C r.(?) p.(=) Unknown - benign g.45717550T>C g.44297667T>C AIRE(NM_000383.2):c.1578T>C (p.D526=), AIRE(NM_000383.4):c.1578T>C (p.D526=) - AIRE_000521 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567C>T r.(?) p.(=) Unknown - likely benign g.45733000C>T - PFKL(NM_002626.6):c.567C>T (p.(Ile189=)) - PFKL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.982A>G r.(?) p.(Thr328Ala) Unknown - likely benign g.45738398A>G - PFKL(NM_002626.4):c.982A>G (p.(Thr328Ala)) - PFKL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2163C>A r.(?) p.(=) Unknown - likely benign g.45746115C>A - PFKL(NM_002626.6):c.2163C>A (p.(Pro721=)) - C21orf2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3344C>T r.(=) p.(=) Unknown - benign g.45750089C>T g.44330206C>T CFAP410(NM_001271441.2):c.1120G>A (p.A374T) - C21orf2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3345G>A r.(=) p.(=) Unknown - likely benign g.45750090G>A - CFAP410(NM_004928.3):c.762C>T (p.H254=) - C21orf2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3367C>T r.(=) p.(=) Unknown - benign g.45750112C>T g.44330229C>T CFAP410(NM_001271441.2):c.1097G>A (p.R366H) - C21orf2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3434G>A r.(=) p.(=) Unknown - VUS g.45750179G>A g.44330296G>A CFAP410(NM_001271441.2):c.1030C>T (p.R344W) - C21orf2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3594G>A r.(=) p.(=) Unknown - likely benign g.45750339G>A g.44330456G>A C21orf2(NM_001271441.1):c.999+7C>T - C21orf2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3595A>G r.(=) p.(=) Unknown - likely benign g.45750340A>G g.44330457A>G C21orf2(NM_001271441.1):c.999+6T>C - C21orf2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3610C>T r.(=) p.(=) Unknown - likely benign g.45750355C>T g.44330472C>T C21orf2(NM_001271441.1):c.990G>A (p.P330=) - C21orf2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3635G>A r.(=) p.(=) Unknown - likely benign g.45750380G>A - C21orf2(NM_001271441.1):c.965C>T (p.(Ala322Val)) - C21orf2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3646C>T r.(=) p.(=) Unknown - benign g.45750391C>T g.44330508C>T C21orf2(NM_001271441.1):c.954G>A (p.T318=), CFAP410(NM_001271441.2):c.954G>A (p.T318=) - C21orf2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3646C>T r.(=) p.(=) Unknown - likely benign g.45750391C>T - C21orf2(NM_001271441.1):c.954G>A (p.T318=), CFAP410(NM_001271441.2):c.954G>A (p.T318=) - C21orf2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3699C>T r.(=) p.(=) Unknown - benign g.45750444C>T g.44330561C>T C21orf2(NM_001271441.1):c.901G>A (p.G301R), CFAP410(NM_001271441.2):c.901G>A (p.G301R) - C21orf2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3699C>T r.(=) p.(=) Unknown - benign g.45750444C>T g.44330561C>T C21orf2(NM_001271441.1):c.901G>A (p.G301R), CFAP410(NM_001271441.2):c.901G>A (p.G301R) - C21orf2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3719C>G r.(=) p.(=) Unknown - VUS g.45750464C>G - CFAP410(NM_001271441.1):c.881G>C (p.W294S) - C21orf2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3768G>A r.(=) p.(=) Unknown - VUS g.45750513G>A - CFAP410(NM_001271441.1):c.832C>T (p.R278C) - C21orf2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3834_*3899dup r.(=) p.(=) Unknown - likely benign g.45750579_45750644dup g.44330696_44330761dup C21orf2(NM_001271441.1):c.766_767insCCGTGGGGAGGGAGCATGGAGCCTCACAGGGCCCCGTGGGGAGGGAGCATGGAGCCTCACAGGGCC (p.(Gly255_Leu256insProValGlyArgGluHisGlyA...)) - C21orf2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3853C>A r.(=) p.(=) Unknown - VUS g.45750598C>A - CFAP410(NM_001271441.1):c.747G>T (p.E249D) - C21orf2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3863A>C r.(=) p.(=) Unknown - VUS g.45750608A>C - CFAP410(NM_001271441.1):c.737T>G (p.V246G) - C21orf2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3865G>A r.(=) p.(=) Unknown - benign g.45750610G>A g.44330727G>A CFAP410(NM_001271441.2):c.735C>T (p.P245=) - C21orf2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3867_*3899del r.(=) p.(=) Unknown - likely benign g.45750612_45750644del - CFAP410(NM_001271441.2):c.734_766del (p.(Pro245_Gly255del)) - C21orf2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3900T>C r.(=) p.(=) Unknown - likely benign g.45750645T>C g.44330762T>C C21orf2(NM_001271441.1):c.700A>G (p.T234A) - C21orf2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3942_*3951dup r.(=) p.(=) Unknown - pathogenic g.45750687_45750696dup g.44330804_44330813dup CFAP410(NM_001271441.2):c.656_665dup (p.(Ala223ArgfsTer38)), CFAP410(NM_001271441.2):c.656_665dupTAGGGGCCGC (p.A223Rfs*38) - C21orf2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3942_*3951dup r.(=) p.(=) Unknown - VUS g.45750687_45750696dup - CFAP410(NM_001271441.2):c.656_665dup (p.(Ala223ArgfsTer38)), CFAP410(NM_001271441.2):c.656_665dupTAGGGGCCGC (p.A223Rfs*38) - C21orf2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4016C>T r.(=) p.(=) Unknown - VUS g.45750761C>T g.44330878C>T C21orf2(NM_001271441.1):c.584G>A (p.R195Q) - C21orf2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4025G>A r.(=) p.(=) Unknown - VUS g.45750770G>A g.44330887G>A C21orf2(NM_001271441.1):c.575C>T (p.P192L) - C21orf2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4042A>G r.(=) p.(=) Unknown - benign g.45750787A>G g.44330904A>G CFAP410(NM_001271441.2):c.558T>C (p.D186=) - C21orf2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4961C>T r.(=) p.(=) Unknown - benign g.45751706C>T g.44331823C>T CFAP410(NM_001271441.2):c.545+20G>A - C21orf2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4981G>A r.(=) p.(=) Unknown - VUS g.45751726G>A - CFAP410(NM_001271441.1):c.545C>T (p.T182I) - C21orf2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5004C>A r.(=) p.(=) Unknown - likely benign g.45751749C>A g.44331866C>A CFAP410(NM_001271441.1):c.522G>T (p.P174=) - C21orf2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5007G>A r.(=) p.(=) Unknown - likely benign g.45751752G>A - CFAP410(NM_001271441.2):c.519C>T (p.D173=) - C21orf2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5021C>T r.(=) p.(=) Unknown - likely benign g.45751766C>T g.44331883C>T CFAP410(NM_001271441.1):c.505G>A (p.E169K) - C21orf2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5081C>G r.(=) p.(=) Unknown - likely benign g.45751826C>G - CFAP410(NM_001271441.1):c.445G>C (p.G149R) - C21orf2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5090C>G r.(=) p.(=) Unknown - likely benign g.45751835C>G g.44331952C>G C21orf2(NM_001271441.1):c.436G>C (p.E146Q) - C21orf2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5094G>T r.(=) p.(=) Unknown - pathogenic g.45751839G>T - CFAP410(NM_001271441.1):c.432C>A (p.A144=) - C21orf2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5094_*5095del r.(=) p.(=) Unknown - pathogenic g.45751839_45751840del - CFAP410(NM_001271441.1):c.433_434delCC (p.P145Rfs*24) - C21orf2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5100A>G r.(=) p.(=) Unknown - likely benign g.45751845A>G - CFAP410(NM_001271441.2):c.426T>C (p.T142=) - C21orf2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5128C>T r.(=) p.(=) Unknown - likely benign g.45751873C>T g.44331990C>T CFAP410(NM_001271441.2):c.398G>A (p.R133H) - C21orf2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5146G>A r.(=) p.(=) Unknown - VUS g.45751891G>A g.44332008G>A CFAP410(NM_001271441.2):c.380C>T (p.T127M) - C21orf2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5168_*5171del r.(=) p.(=) Unknown - likely benign g.45751913_45751916del - CFAP410(NM_001271441.2):c.374-16_374-13delGTCT - C21orf2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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