Unique variants in gene ALG8

Information The variants shown are described using the NM_024079.4 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.32G>C likely benign r.(?) p.(Gly11Ala) g.77850603C>G - ALG8(NM_001007027.2):c.32G>C (p.G11A) - ALG8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.96-6G>C VUS, likely benign r.(=) p.(=) g.77838488C>G - ALG8(NM_001007027.2):c.96-6G>C (, p.(=)) - ALG8_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/+ 2 2 c.139A>C pathogenic r.(?) p.(Thr47Pro) g.77838439T>G - - - ALG8_000001 - - - - Unknown - - MnlI+ - - Gert Matthijs
-/. 1 - c.174+30del benign r.(=) p.(=) g.77838384del - ALG8(NM_001007027.2):c.174+30delT - ALG8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.175-18C>A benign r.(=) p.(=) g.77835278G>T - ALG8(NM_001007027.2):c.175-18C>A - ALG8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 2 2i c.175-2A>G pathogenic r.(=) p.(=) g.77835262T>C - IVS2-2A>G - ALG8_000002 - - - - Unknown - - - - - Gert Matthijs
-?/. 1 - c.441A>T likely benign r.(?) p.(=) g.77832148T>A - ALG8(NM_001007027.2):c.441A>T (p.V147=) - ALG8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.665A>G benign r.(?) p.(Asn222Ser) g.77825320T>C - ALG8(NM_001007027.2):c.665A>G (p.N222S) - ALG8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-?/. 1 - c.675T>C likely benign r.(?) p.(=) g.77825034A>G - ALG8(NM_001007027.2):c.675T>C (p.(=)) - ALG8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.803G>A benign r.(?) p.(Arg268Gln) g.77823791C>T - ALG8(NM_001007027.2):c.803G>A (p.R268Q) - ALG8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.862T>C benign r.(?) p.(=) g.77823732A>G - ALG8(NM_001007027.2):c.862T>C (p.L288=) - ALG8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1039-5T>C likely benign r.spl? p.? g.77817997A>G - ALG8(NM_001007027.2):c.1039-5T>C (p.?) - ALG8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1117T>C likely benign r.(?) p.(Ser373Pro) g.77817914A>G - ALG8(NM_001007027.2):c.1117T>C (p.(Ser373Pro)) - ALG8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1316T>C benign r.(?) p.(Ile439Thr) g.77815059A>G - ALG8(NM_001007027.2):c.1316T>C (p.I439T) - ALG8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1349+1025_1349+1028del benign r.(=) p.(=) g.77814012_77814015del - ALG8(NM_001007027.2):c.1350-7_1350-4delTTTT - ALG8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 2 - c.1349+1027_1349+1028del benign, likely benign r.(=) p.(=) g.77814014_77814015del - ALG8(NM_001007027.2):c.1350-5_1350-4del (p.?), ALG8(NM_001007027.2):c.1350-5_1350-4delTT - ALG8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden
-/. 1 - c.1349+1027_1349+1028dup benign r.(=) p.(=) g.77814014_77814015dup - ALG8(NM_001007027.2):c.1350-5_1350-4dupTT - ALG8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1349+1028del likely benign r.(=) p.(=) g.77814015del - ALG8(NM_001007027.2):c.1350-4delT (p.?) - ALG8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1349+1085A>G benign r.(=) p.(=) g.77813941T>C - ALG8(NM_001007027.2):c.1403A>G (p.*468=) - ALG8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.*20A>G benign r.(=) p.(=) g.77811990T>C - ALG8(NM_001007027.2):c.*272A>G - ALG8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
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