Full data view for gene TSPAN1

Information The variants shown are described using the NM_005727.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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.-139973C>T r.(?) p.(=) Unknown - likely benign g.46501250C>T - MAST2(NM_001319245.1):c.4906C>T (p.(Leu1636Phe)) - PIK3R3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-129555T>C r.(?) p.(=) Unknown - likely benign g.46511668T>C - PIK3R3(NM_001114172.1):c.1109A>G (p.(Asp370Gly)) - PIK3R3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-128957G>A r.(?) p.(=) Unknown - likely benign g.46512266G>A g.46046594G>A PIK3R3(NM_001114172.1):c.973C>T (p.(Arg325Cys)) - PIK3R3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-113624dup r.(?) p.(=) Unknown - likely benign g.46527599dup g.46061927dup PIK3R3(NM_001114172.1):c.764+2dup (p.?), PIK3R3(NM_003629.4):c.764+2dupT - PIK3R3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-113624dup r.(?) p.(=) Unknown - likely benign g.46527599dup - PIK3R3(NM_001114172.1):c.764+2dup (p.?), PIK3R3(NM_003629.4):c.764+2dupT - PIK3R3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-108616_-108615dup r.(?) p.(=) Unknown - VUS g.46532607_46532608dup g.46066935_46066936dup PIK3R3(NM_003629.3):c.472_473insGT (p.(Tyr158CysfsTer13)) - PIK3R3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-108566G>T r.(?) p.(=) Unknown - likely benign g.46532657G>T g.46066985G>T PIK3R3(NM_001114172.1):c.421C>A (p.(His141Asn)) - PIK3R3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-108465C>T r.(?) p.(=) Unknown - VUS g.46532758C>T - LOC110117498-PIK3R3(NM_001303427.1):c.458G>A (p.G153E), PIK3R3(NM_003629.4):c.320G>A (p.G107E) - PIK3R3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-98002T>C r.(?) p.(=) Unknown - VUS g.46543221T>C - PIK3R3(NM_003629.3):c.280A>G (p.(Thr94Ala)) - PIK3R3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-94827T>C r.(?) p.(=) Unknown - likely benign g.46546396T>C - PIK3R3(NM_001114172.1):c.133A>G (p.(Met45Val)) - PIK3R3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43701G>A r.(?) p.(=) Unknown - VUS g.46597522G>A g.46131850G>A PIK3R3(NM_001114172.1):c.103C>T (p.(Pro35Ser)) - PIK3R3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43605T>C r.(?) p.(=) Unknown - VUS g.46597618T>C - PIK3R3(NM_003629.3):c.7A>G (p.(Asn3Asp)) - PIK3R3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-42771G>A r.(?) p.(=) Unknown - likely benign g.46598452G>A - PIK3R3(NM_001114172.1):c.-5+4C>T - PIK3R3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3232C>T r.(=) p.(=) Unknown - likely benign g.46654437C>T g.46188765C>T POMGNT1(NM_001243766.1):c.2201G>A (p.R734K) - LURAP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3390C>T r.(=) p.(=) Unknown - likely benign g.46654595C>T - POMGNT1(NM_001243766.1):c.2043G>A (p.P681=) - LURAP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3703C>T r.(=) p.(=) Unknown - likely benign g.46654908C>T - POMGNT1(NM_001243766.1):c.1985+6G>A (p.(=)) - LURAP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3759G>A r.(=) p.(=) Unknown - likely benign g.46654964G>A g.46189292G>A POMGNT1(NM_017739.3):c.1961C>T (p.P654L) - LURAP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3843A>G r.(=) p.(=) Unknown - benign g.46655048A>G g.46189376A>G POMGNT1(NM_001243766.2):c.1870-19T>C, POMGNT1(NM_017739.3):c.1896-19T>C - POMGNT1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3843A>G r.(=) p.(=) Unknown - benign g.46655048A>G g.46189376A>G POMGNT1(NM_001243766.2):c.1870-19T>C, POMGNT1(NM_017739.3):c.1896-19T>C - POMGNT1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3924C>T r.(=) p.(=) Unknown - pathogenic g.46655129C>T - POMGNT1(NM_017739.4):c.1895+1G>A - POMGNT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3940G>A r.(=) p.(=) Unknown - VUS g.46655145G>A - POMGNT1(NM_017739.3):c.1880C>T (p.P627L) - LURAP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3953T>C r.(=) p.(=) Unknown - benign g.46655158T>C - POMGNT1(NM_001243766.2):c.1867A>G (p.M623V), POMGNT1(NM_017739.3):c.1867A>G (p.M623V) - POMGNT1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3953T>C r.(=) p.(=) Unknown - benign g.46655158T>C - POMGNT1(NM_001243766.2):c.1867A>G (p.M623V), POMGNT1(NM_017739.3):c.1867A>G (p.M623V) - POMGNT1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3953T>C r.(=) p.(=) Unknown - benign g.46655158T>C - POMGNT1(NM_001243766.2):c.1867A>G (p.M623V), POMGNT1(NM_017739.3):c.1867A>G (p.M623V) - POMGNT1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3995G>A r.(=) p.(=) Unknown - VUS g.46655200G>A g.46189528G>A POMGNT1(NM_001243766.2):c.1825C>T (p.R609W) - LURAP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4320C>T r.(=) p.(=) Unknown - pathogenic g.46655525C>T g.46189853C>T - - POMGNT1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4387del r.(?) p.(=) Unknown - likely pathogenic g.46655592del g.46189920del POMGNT1(NM_001243766.2):c.1719delC (p.H573Qfs*50) - POMGNT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4440C>T r.(=) p.(=) Unknown - likely benign g.46655645C>T g.46189973C>T POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N) - POMGNT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4440C>T r.(=) p.(=) Unknown - benign g.46655645C>T g.46189973C>T POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N) - POMGNT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4440C>T r.(=) p.(=) Unknown - VUS g.46655645C>T g.46189973C>T POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N) - POMGNT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4440C>T r.(=) p.(=) Unknown - likely benign g.46655645C>T g.46189973C>T POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N) - POMGNT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4440C>T r.(=) p.(=) Unknown - benign g.46655645C>T g.46189973C>T POMGNT1(NM_001243766.1):c.1666G>A (p.(Asp556Asn), p.D556N), POMGNT1(NM_001243766.2):c.1666G>A (p.D556N), POMGNT1(NM_017739.3):c.1666G>A (p.D556N) - POMGNT1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4939C>T r.(=) p.(=) Unknown - VUS g.46656144C>T - - - LURAP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4940C>T r.(=) p.(=) Unknown - pathogenic g.46656145C>T g.46190473C>T POMGNT1(NM_001243766.2):c.1649G>A (p.S550N) - POMGNT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5257G>A r.(=) p.(=) Unknown - VUS g.46656462G>A g.46190790G>A POMGNT1(NM_001243766.1):c.1540-6C>T (p.(=)) - LURAP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5267G>A r.(=) p.(=) Unknown - benign g.46656472G>A g.46190800G>A POMGNT1(NM_001243766.1):c.1540-16C>T (p.(=)), POMGNT1(NM_017739.3):c.1540-16C>T - POMGNT1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5267G>A r.(=) p.(=) Unknown - likely benign g.46656472G>A - POMGNT1(NM_001243766.1):c.1540-16C>T (p.(=)), POMGNT1(NM_017739.3):c.1540-16C>T - POMGNT1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5270T>G r.(=) p.(=) Unknown - likely benign g.46656475T>G g.46190803T>G - - POMGNT1_000185 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.