Full data view for gene SPEG

Information The variants shown are described using the NM_005876.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

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Consanguinity     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.116T>C likely benign r.(?) p.(Val39Ala) Unknown g.220299815T>C - SPEG(NM_005876.4):c.116T>C (p.V39A) - SPEG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.182G>A VUS r.(?) p.(Arg61Gln) Unknown g.220299881G>A - - - SPEG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.749C>T VUS r.(?) p.(Ser250Phe) Unknown g.220309817C>T - SPEG(NM_005876.4):c.749C>T (p.S250F) - SPEG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1254C>T benign r.(?) p.(=) Unknown g.220313134C>T - SPEG(NM_005876.4):c.1254C>T (p.D418=) - SPEG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1753G>A likely benign r.(?) p.(Gly585Ser) Unknown g.220313633G>A - SPEG(NM_005876.4):c.1753G>A (p.G585S) - SPEG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2053C>G VUS r.(?) p.(Arg685Gly) Unknown g.220313933C>G - SPEG(NM_005876.4):c.2053C>G (p.R685G) - SPEG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.2915_2916delinsA - r.(?) p.(Ala972Aspfs*79) Maternal (confirmed) g.220331929_220331930delinsA g.219467207_219467208delinsA 2915_2916delCCinsA - SPEG_000004 - PubMed: Agrawal 2014 - - Germline yes - - 0 - DNA SEQ - - CNM - PubMed: Agrawal 2014 2-generation family, 3 affecteds (F fetus, 2M), unaffected heterozygous carrier parents - no Turkey - - 0 - - 1 Johan den Dunnen
-?/. - c.3142+6T>C likely benign r.(=) p.(=) Unknown g.220332162T>C - SPEG(NM_001173476.1):c.*1376T>C (p.(=)) - SPEG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3183G>T benign r.(?) p.(=) Unknown g.220333340G>T - SPEG(NM_005876.4):c.3183G>T (p.S1061=) - SPEG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3571C>T likely benign r.(?) p.(=) Unknown g.220333957C>T - SPEG(NM_005876.4):c.3571C>T (p.L1191=) - SPEG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3595G>T VUS r.(?) p.(Val1199Leu) Unknown g.220333981G>T - - - SPEG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3700C>T ACMG: 3 r.(?) p.Arg1234Trp Unknown g.220334086C>T - - - SPEG_000018 not regarded causative for prenatal phenotype, no second variant detected in SPEG - - rs55916864 Germline - - - 0 - DNA SEQ-NG - - - - - - ? - Germany - - 0 - - 1 Andreas Laner
+/. 13_13i c.3709_3715+29del - r.spl p.? Paternal (confirmed) g.220334095_220334130del g.219469373_219469408del 3709_3715+29del36 - SPEG_000003 - PubMed: Agrawal 2014 - - Germline yes - - 0 - DNA SEQ - - CNM - PubMed: Agrawal 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 Johan den Dunnen
-?/. - c.3999G>A likely benign r.(?) p.(=) Unknown g.220337670G>A - SPEG(NM_005876.4):c.3999G>A (p.T1333=) - SPEG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4048C>T VUS r.(?) p.(Arg1350Cys) Unknown g.220337719C>T - SPEG(NM_005876.4):c.4048C>T (p.R1350C) - SPEG_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.4276C>T - r.(?) p.(Arg1426*) Maternal (confirmed) g.220338454C>T g.219473732C>T - - SPEG_000002 - PubMed: Agrawal 2014 - - Germline yes - - 0 - DNA SEQ - - CNM - PubMed: Agrawal 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - 1 Johan den Dunnen
-?/. - c.4400G>A likely benign r.(?) p.(Arg1467Gln) Unknown g.220338578G>A - SPEG(NM_005876.4):c.4400G>A (p.(Arg1467Gln)) - SPEG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4447+3G>C VUS r.spl? p.? Unknown g.220338628G>C - - - SPEG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4822G>A VUS r.(?) p.(Gly1608Ser) Unknown g.220342503G>A - - - SPEG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.5289T>C benign r.(?) p.(=) Unknown g.220344809T>C - SPEG(NM_005876.4):c.5289T>C (p.F1763=) - SPEG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5289T>C likely benign r.(?) p.(=) Unknown g.220344809T>C - SPEG(NM_005876.4):c.5289T>C (p.F1763=) - SPEG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5724G>T VUS r.(?) p.(Met1908Ile) Unknown g.220347909G>T - SPEG(NM_005876.4):c.5724G>T (p.M1908I) - SPEG_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5891A>G likely benign r.(?) p.(Glu1964Gly) Unknown g.220348076A>G - SPEG(NM_005876.4):c.5891A>G (p.E1964G) - SPEG_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6076C>G benign r.(?) p.(Arg2026Gly) Unknown g.220348261C>G - SPEG(NM_005876.4):c.6076C>G (p.R2026G) - SPEG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 30 c.6697C>T - r.(?) p.(Gln2233*) Both (homozygous) g.220348882C>T g.219484160C>T - - SPEG_000001 - PubMed: Agrawal 2014 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - CNM - PubMed: Agrawal 2014 2-generation family, 3 affecteds (F), unaffected heterozygous carrier parents and sib F yes - - - 0 - - 3 Johan den Dunnen
-?/. - c.7202G>A likely benign r.(?) p.(Gly2401Glu) Unknown g.220349387G>A - SPEG(NM_005876.4):c.7202G>A (p.(Gly2401Glu)) - SPEG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8078C>A VUS r.(?) p.(Thr2693Lys) Unknown g.220353551C>A - SPEG(NM_005876.4):c.8078C>A (p.(Thr2693Lys)) - SPEG_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8141G>A VUS r.(?) p.(Arg2714Gln) Unknown g.220353614G>A - SPEG(NM_005876.4):c.8141G>A (p.R2714Q) - SPEG_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8167C>T VUS r.(?) p.(Pro2723Ser) Unknown g.220353793C>T - - - SPEG_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 35 c.8270G>T - r.(?) p.(Gly2757Val) Paternal (confirmed) g.220353896G>T g.219489174G>T - - SPEG_000005 - PubMed: Agrawal 2014 - - Germline yes - - 0 - DNA SEQ - - CNM - PubMed: Agrawal 2014 2-generation family, 3 affecteds (F fetus, 2M), unaffected heterozygous carrier parents - no Turkey - - 0 - - 1 Johan den Dunnen
+/. - c.8872C>T pathogenic r.(?) p.(Arg2958*) Unknown g.220354612C>T - - - SPEG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.9033C>T likely benign r.(?) p.(=) Unknown g.220355242C>T - SPEG(NM_005876.4):c.9033C>T (p.Y3011=) - SPEG_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9183C>T likely benign r.(?) p.(=) Unknown g.220355476C>T - SPEG(NM_005876.4):c.9183C>T (p.D3061=) - SPEG_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9185_9187del pathogenic r.(?) p.(Val3062del) Unknown g.220355478_220355480del - SPEG(NM_005876.4):c.9185_9187delTGG (p.V3062del) - SPEG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.9361C>T likely benign r.(?) p.(Arg3121Cys) Unknown g.220355654C>T - SPEG(NM_005876.4):c.9361C>T (p.(Arg3121Cys)) - SPEG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4277A>G likely benign r.(=) p.(=) Unknown g.220361785A>G - LOC100996693(NM_001286811.1):c.383A>G (p.N128S) - GMPPA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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