Full data view for gene EIF3J

Information The variants shown are described using the NM_003758.2 transcript reference sequence.

359 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

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.*2048T>C r.(=) p.(=) Unknown - likely benign g.44855395T>C g.44563197T>C SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg)) - SPG11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2048T>C r.(=) p.(=) Unknown - likely benign g.44855395T>C g.44563197T>C SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg)) - SPG11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2048T>C r.(=) p.(=) Unknown - benign g.44855395T>C g.44563197T>C SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg)) - SPG11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2048T>C r.(=) p.(=) Unknown - likely benign g.44855395T>C g.44563197T>C SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg)) - SPG11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2048T>C r.(=) p.(=) Unknown - benign g.44855395T>C - SPG11(NM_025137.4):c.7256A>G (p.K2419R, p.(Lys2419Arg)) - SPG11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2048_*2049dup r.(=) p.(=) Unknown - VUS g.44855395_44855396dup g.44563197_44563198dup SPG11(NM_025137.4):c.7255_7256dupAA (p.F2420Sfs*6) - EIF3J_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2107C>T r.(=) p.(=) Unknown - benign g.44855454C>T g.44563256C>T SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=)) - SPG11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2107C>T r.(=) p.(=) Unknown - benign g.44855454C>T g.44563256C>T SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=)) - SPG11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2107C>T r.(=) p.(=) Unknown - benign g.44855454C>T g.44563256C>T SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=)) - SPG11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2107C>T r.(=) p.(=) Unknown - benign g.44855454C>T g.44563256C>T SPG11(NM_025137.4):c.7197G>A (p.K2399=, p.(Lys2399=)) - SPG11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2145_*2147del r.(=) p.(=) Unknown - VUS g.44855492_44855494del g.44563294_44563296del SPG11(NM_025137.4):c.7161_7163delACA (p.Q2387del) - EIF3J_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*2153C>G r.(=) p.(=) Unknown - pathogenic g.44855500C>G g.44563302C>G - - SPG11_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2162_*2166dup r.(=) p.(=) Unknown - likely benign g.44855509_44855513dup g.44563311_44563315dup SPG11(NM_025137.3):c.7152-14_7152-10dupGTTTC, SPG11(NM_025137.4):c.7152-14_7152-10dupGTTTC - EIF3J_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2162_*2166dup r.(=) p.(=) Unknown - likely benign g.44855509_44855513dup g.44563311_44563315dup SPG11(NM_025137.3):c.7152-14_7152-10dupGTTTC, SPG11(NM_025137.4):c.7152-14_7152-10dupGTTTC - EIF3J_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3417A>G r.(=) p.(=) Unknown - VUS g.44856764A>G g.44564566A>G SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L) - EIF3J_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3417A>G r.(=) p.(=) Unknown - VUS g.44856764A>G g.44564566A>G SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L) - EIF3J_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3417A>G r.(=) p.(=) Unknown - VUS g.44856764A>G g.44564566A>G SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L) - EIF3J_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3417A>G r.(=) p.(=) Unknown - likely benign g.44856764A>G g.44564566A>G SPG11(NM_025137.3):c.7132T>C (p.F2378L), SPG11(NM_025137.4):c.7132T>C (p.F2378L) - EIF3J_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3434A>T r.(=) p.(=) Unknown - pathogenic g.44856781A>T - SPG11(NM_025137.4):c.7115T>A (p.(Leu2372*), p.L2372*) - EIF3J_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3434A>T r.(=) p.(=) Unknown - VUS g.44856781A>T - SPG11(NM_025137.4):c.7115T>A (p.(Leu2372*), p.L2372*) - EIF3J_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3480G>A r.(=) p.(=) Unknown - likely benign g.44856827G>A g.44564629G>A SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F) - SPG11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3480G>A r.(=) p.(=) Unknown - VUS g.44856827G>A g.44564629G>A SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F) - SPG11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3480G>A r.(=) p.(=) Unknown - VUS g.44856827G>A g.44564629G>A SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F) - SPG11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3480G>A r.(=) p.(=) Unknown - likely benign g.44856827G>A - SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F) - SPG11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3480G>A r.(=) p.(=) Unknown - VUS g.44856827G>A - SPG11(NM_025137.3):c.7069C>T (p.L2357F, p.(Leu2357Phe)), SPG11(NM_025137.4):c.7069C>T (p.L2357F) - SPG11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3525C>G r.(=) p.(=) Unknown - likely benign g.44856872C>G g.44564674C>G SPG11(NM_025137.4):c.7024G>C (p.D2342H) - EIF3J_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3526G>A r.(=) p.(=) Unknown - likely benign g.44856873G>A g.44564675G>A SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=)) - EIF3J_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3526G>A r.(=) p.(=) Unknown - likely benign g.44856873G>A g.44564675G>A SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=)) - EIF3J_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3526G>A r.(=) p.(=) Unknown - benign g.44856873G>A g.44564675G>A SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=)) - EIF3J_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3526G>A r.(=) p.(=) Unknown - benign g.44856873G>A - SPG11(NM_025137.4):c.7023C>T (p.Y2341=, p.(Tyr2341=)) - EIF3J_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*4708G>T r.(=) p.(=) Unknown - pathogenic g.44858055G>T g.44565857G>T SPG11(NM_025137.4):c.6996C>A (p.Y2332*) - SPG11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4751C>T r.(=) p.(=) Unknown - benign g.44858098C>T g.44565900C>T SPG11(NM_025137.4):c.6953G>A (p.R2318H) - SPG11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4751C>T r.(=) p.(=) Unknown - likely benign g.44858098C>T g.44565900C>T SPG11(NM_025137.4):c.6953G>A (p.R2318H) - SPG11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4754C>T r.(=) p.(=) Unknown - VUS g.44858101C>T g.44565903C>T SPG11(NM_025137.3):c.6950G>A (p.G2317D), SPG11(NM_025137.4):c.6950G>A (p.G2317D) - EIF3J_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4754C>T r.(=) p.(=) Unknown - likely benign g.44858101C>T - SPG11(NM_025137.3):c.6950G>A (p.G2317D), SPG11(NM_025137.4):c.6950G>A (p.G2317D) - EIF3J_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4760T>G r.(=) p.(=) Unknown - VUS g.44858107T>G - SPG11(NM_025137.4):c.6944A>C (p.N2315T) - EIF3J_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4760T>G r.(=) p.(=) Unknown - VUS g.44858107T>G - SPG11(NM_025137.4):c.6944A>C (p.N2315T) - EIF3J_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4774G>A r.(=) p.(=) Unknown - likely benign g.44858121G>A g.44565923G>A SPG11(NM_025137.4):c.6930C>T (p.N2310=) - EIF3J_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4822G>A r.(=) p.(=) Unknown - likely benign g.44858169G>A g.44565971G>A SPG11(NM_025137.3):c.6882C>T (p.L2294=) - SPG11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4826C>T r.(=) p.(=) Unknown - VUS g.44858173C>T g.44565975C>T SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln)) - SPG11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4826C>T r.(=) p.(=) Unknown - VUS g.44858173C>T g.44565975C>T SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln)) - SPG11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4826C>T r.(=) p.(=) Unknown - VUS g.44858173C>T - SPG11(NM_025137.3):c.6878G>A (p.R2293Q), SPG11(NM_025137.4):c.6878G>A (p.R2293Q, p.(Arg2293Gln)) - SPG11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4827G>A r.(=) p.(=) Unknown - VUS g.44858174G>A g.44565976G>A SPG11(NM_025137.3):c.6877C>T (p.R2293W) - SPG11_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5092_*5093insTGT r.(=) p.(=) Unknown - VUS g.44858439_44858440insTGT g.44566241_44566242insTGT SPG11(NM_025137.3):c.6818_6819insACA (p.L2273_D2274insQ) - EIF3J_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5101_*5102del r.(=) p.(=) Unknown - pathogenic g.44858448_44858449del - SPG11(NM_025137.4):c.6811_6812delCT (p.L2271Dfs*68) - EIF3J_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5122T>C r.(=) p.(=) Unknown - likely benign g.44858469T>C g.44566271T>C SPG11(NM_025137.4):c.6789A>G (p.Q2263=) - SPG11_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5152G>C r.(=) p.(=) Unknown - likely benign g.44858499G>C g.44566301G>C SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E) - SPG11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5152G>C r.(=) p.(=) Unknown - likely benign g.44858499G>C g.44566301G>C SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E) - SPG11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5152G>C r.(=) p.(=) Unknown - likely benign g.44858499G>C - SPG11(NM_025137.3):c.6759C>G (p.D2253E), SPG11(NM_025137.4):c.6759C>G (p.D2253E) - SPG11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5168del r.(?) p.(=) Unknown - likely benign g.44858515del g.44566317del SPG11(NM_025137.4):c.6755-10delT - EIF3J_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5175_*5177del r.(=) p.(=) Unknown - benign g.44858522_44858524del g.44566324_44566326del SPG11(NM_025137.4):c.6755-17_6755-15delCTT - SPG11_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5175_*5177del r.(=) p.(=) Unknown - benign g.44858522_44858524del g.44566324_44566326del SPG11(NM_025137.4):c.6755-17_6755-15delCTT - SPG11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5175_*5177del r.(=) p.(=) Unknown - benign g.44858522_44858524del - SPG11(NM_025137.4):c.6755-17_6755-15delCTT - SPG11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5175_*5177del r.(=) p.(=) Unknown - benign g.44858522_44858524del - SPG11(NM_025137.4):c.6755-17_6755-15delCTT - SPG11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6256T>C r.(=) p.(=) Unknown - likely benign g.44859603T>C g.44567405T>C SPG11(NM_025137.4):c.6754+19A>G - SPG11_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6256T>C r.(=) p.(=) Unknown - benign g.44859603T>C g.44567405T>C SPG11(NM_025137.4):c.6754+19A>G - SPG11_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6270C>T r.(=) p.(=) Unknown - VUS g.44859617C>T - SPG11(NM_025137.3):c.6754+5G>A - EIF3J_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6310C>T r.(=) p.(=) Unknown - VUS g.44859657C>T - SPG11(NM_025137.4):c.6719G>A (p.R2240H) - EIF3J_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6333G>A r.(=) p.(=) Unknown - VUS g.44859680G>A - SPG11(NM_025137.4):c.6696C>T (p.G2232=) - EIF3J_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6397C>T r.(=) p.(=) Unknown - likely benign g.44859744C>T g.44567546C>T SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H) - EIF3J_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6397C>T r.(=) p.(=) Unknown - VUS g.44859744C>T - SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H) - EIF3J_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6397C>T r.(=) p.(=) Unknown - likely benign g.44859744C>T - SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H) - EIF3J_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6397C>T r.(=) p.(=) Unknown - likely benign g.44859744C>T - SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H) - EIF3J_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6397C>T r.(=) p.(=) Unknown - likely benign g.44859744C>T - SPG11(NM_025137.3):c.6632G>A (p.R2211H), SPG11(NM_025137.4):c.6632G>A (p.R2211H) - EIF3J_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6404G>A r.(=) p.(=) Unknown - VUS g.44859751G>A - SPG11(NM_025137.3):c.6625C>T (p.R2209C), SPG11(NM_025137.4):c.6625C>T (p.(Arg2209Cys)) - EIF3J_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6404G>A r.(=) p.(=) Unknown - VUS g.44859751G>A - SPG11(NM_025137.3):c.6625C>T (p.R2209C), SPG11(NM_025137.4):c.6625C>T (p.(Arg2209Cys)) - EIF3J_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8250G>A r.(=) p.(=) Unknown - VUS g.44861597G>A g.44569399G>A SPG11(NM_025137.4):c.6584C>T (p.P2195L) - EIF3J_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8314_*8317del r.(=) p.(=) Unknown - VUS g.44861661_44861664del - SPG11(NM_025137.4):c.6522_6525del (p.(Ile2175Leufs*13)) - EIF3J_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8326_*8328del r.(=) p.(=) Unknown - VUS g.44861673_44861675del - SPG11(NM_025137.4):c.6508_6510delAAC (p.N2170del) - EIF3J_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8327G>A r.(=) p.(=) Unknown - likely benign g.44861674G>A - SPG11(NM_025137.4):c.6507C>T (p.Y2169=) - EIF3J_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9358G>A r.(=) p.(=) Unknown - likely benign g.44862705G>A g.44570507G>A SPG11(NM_025137.4):c.6477+18C>T - SPG11_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*9367del r.(?) p.(=) Unknown - benign g.44862714del g.44570516del SPG11(NM_025137.4):c.6477+13delC - SPG11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9367del r.(?) p.(=) Unknown - likely benign g.44862714del g.44570516del SPG11(NM_025137.4):c.6477+13delC - SPG11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9367del r.(?) p.(=) Unknown - likely benign g.44862714del g.44570516del SPG11(NM_025137.4):c.6477+13delC - SPG11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9367del r.(?) p.(=) Unknown - likely benign g.44862714del g.44570516del SPG11(NM_025137.4):c.6477+13delC - SPG11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9385A>G r.(=) p.(=) Unknown - likely benign g.44862732A>G g.44570534A>G SPG11(NM_025137.4):c.6468T>C (p.Y2156=) - SPG11_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9443C>T r.(=) p.(=) Unknown - VUS g.44862790C>T g.44570592C>T SPG11(NM_025137.3):c.6410G>A (p.R2137Q) - EIF3J_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11547C>T r.(=) p.(=) Unknown - benign g.44864894C>T - SPG11(NM_025137.4):c.6330G>A (p.G2110=) - SPG11_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11547C>T r.(=) p.(=) Unknown - benign g.44864894C>T - SPG11(NM_025137.4):c.6330G>A (p.G2110=) - SPG11_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11558C>T r.(=) p.(=) Unknown - likely benign g.44864905C>T g.44572707C>T SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I) - SPG11_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11558C>T r.(=) p.(=) Unknown - benign g.44864905C>T g.44572707C>T SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I) - SPG11_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11558C>T r.(=) p.(=) Unknown - likely benign g.44864905C>T g.44572707C>T SPG11(NM_025137.3):c.6319G>A (p.V2107I), SPG11(NM_025137.4):c.6319G>A (p.V2107I) - SPG11_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11593A>G r.(=) p.(=) Unknown - likely benign g.44864940A>G g.44572742A>G SPG11(NM_025137.3):c.6284T>C (p.L2095S) - SPG11_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11593A>G r.(=) p.(=) Unknown - VUS g.44864940A>G g.44572742A>G SPG11(NM_025137.3):c.6284T>C (p.L2095S) - SPG11_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11619C>A r.(=) p.(=) Unknown - likely benign g.44864966C>A g.44572768C>A SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=)) - SPG11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11619C>A r.(=) p.(=) Unknown - benign g.44864966C>A g.44572768C>A SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=)) - SPG11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11619C>A r.(=) p.(=) Unknown - likely benign g.44864966C>A g.44572768C>A SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=)) - SPG11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11619C>A r.(=) p.(=) Unknown - likely benign g.44864966C>A g.44572768C>A SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=)) - SPG11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11619C>A r.(=) p.(=) Unknown - likely benign g.44864966C>A - SPG11(NM_025137.3):c.6258G>T (p.L2086=), SPG11(NM_025137.4):c.6258G>T (p.L2086=, p.(Leu2086=)) - SPG11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11627G>A r.(=) p.(=) Unknown - VUS g.44864974G>A - SPG11(NM_025137.4):c.6250C>T (p.(Leu2084Phe)) - EIF3J_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11653T>C r.(=) p.(=) Unknown - likely benign g.44865000T>C g.44572802T>C SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser)) - SPG11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11653T>C r.(=) p.(=) Unknown - benign g.44865000T>C g.44572802T>C SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser)) - SPG11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*11653T>C r.(=) p.(=) Unknown - benign g.44865000T>C g.44572802T>C SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser)) - SPG11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11653T>C r.(=) p.(=) Unknown - likely benign g.44865000T>C g.44572802T>C SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser)) - SPG11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11653T>C r.(=) p.(=) Unknown - likely benign g.44865000T>C g.44572802T>C SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser)) - SPG11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*11653T>C r.(=) p.(=) Unknown - likely benign g.44865000T>C - SPG11(NM_025137.3):c.6224A>G (p.N2075S), SPG11(NM_025137.4):c.6224A>G (p.N2075S, p.(Asn2075Ser)) - SPG11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12388G>C r.(=) p.(=) Unknown - likely benign g.44865735G>C g.44573537G>C SPG11(NM_025137.4):c.6205+10C>G - EIF3J_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*12477C>G r.(=) p.(=) Unknown - VUS g.44865824C>G - SPG11(NM_025137.3):c.6126G>C (p.Q2042H) - EIF3J_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*12503G>A r.(=) p.(=) Unknown - pathogenic g.44865850G>A g.44573652G>A SPG11(NM_025137.3):c.6100C>T (p.R2034*), SPG11(NM_025137.4):c.6100C>T (p.(Arg2034*)) - SPG11_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*12503G>A r.(=) p.(=) Unknown - pathogenic g.44865850G>A - SPG11(NM_025137.3):c.6100C>T (p.R2034*), SPG11(NM_025137.4):c.6100C>T (p.(Arg2034*)) - SPG11_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »


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