Unique variants in gene ALG8

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.32G>C r.(?) p.(Gly11Ala) - likely benign g.77850603C>G g.78139557C>G ALG8(NM_001007027.2):c.32G>C (p.G11A) - ALG8_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.95+1G>A r.spl? p.? - pathogenic g.77850539C>T g.78139493C>T ALG8(NM_001007027.2):c.95+1G>A - ALG8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/., -?/. 2 - c.96-6G>C r.(=) p.(=) - VUS, likely benign g.77838488C>G g.78127442C>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
+/. 1 - c.121C>T r.(?) p.(Arg41*) - pathogenic g.77838457G>A g.78127411G>A - - ALG8_000030 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs200888240 Germline - 1/2795 individuals - - - Mohammed Faruq
+/+ 2 2 c.139A>C r.(?) p.(Thr47Pro) - pathogenic g.77838439T>G g.78127393T>G - - ALG8_000001 - - - - Unknown - - MnlI+ - - Gert Matthijs
-/. 1 - c.174+30del r.(=) p.(=) - benign g.77838384del g.78127338del ALG8(NM_001007027.2):c.174+30delT - ALG8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.175-18C>A r.(=) p.(=) - benign g.77835278G>T g.78124232G>T ALG8(NM_001007027.2):c.175-18C>A - ALG8_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 2 2i c.175-2A>G r.(=) p.(=) - pathogenic g.77835262T>C g.78124216T>C IVS2-2A>G - ALG8_000002 - - - - Unknown - - - - - Gert Matthijs
-?/. 1 - c.441A>T r.(?) p.(Val147=) - likely benign g.77832148T>A g.78121102T>A ALG8(NM_001007027.2):c.441A>T (p.V147=) - ALG8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.665A>G r.(?) p.(Asn222Ser) - benign g.77825320T>C g.78114274T>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 r.(?) p.(Asp225=) - likely benign g.77825034A>G g.78113988A>G ALG8(NM_001007027.2):c.675T>C (p.(=)) - ALG8_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 3 - c.803G>A r.(?) p.(Arg268Gln) - benign, VUS g.77823791C>T g.78112745C>T ALG8(NM_001007027.2):c.803G>A (p.R268Q) - ALG8_000012 VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs61995925 CLASSIFICATION record, Germline - 13/2795 individuals - - - VKGL-NL_AMC, VKGL-NL_Groningen, Mohammed Faruq
-/. 1 - c.862T>C r.(?) p.(Leu288=) - benign g.77823732A>G g.78112686A>G ALG8(NM_001007027.2):c.862T>C (p.L288=) - ALG8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.1039-5T>C r.spl? p.? - benign, likely benign g.77817997A>G g.78106951A>G ALG8(NM_001007027.2):c.1039-5T>C (, p.?) - ALG8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden
-?/. 1 - c.1117T>C r.(?) p.(Ser373Pro) - likely benign g.77817914A>G g.78106868A>G ALG8(NM_001007027.2):c.1117T>C (p.(Ser373Pro)) - ALG8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/., -/. 2 - c.1316T>C r.(?) p.(Ile439Thr) - VUS, benign g.77815059A>G g.78104013A>G ALG8(NM_001007027.2):c.1316T>C (p.I439T) - ALG8_000011 conflicting interpretations of pathogenicity; 43 heterozygous, no homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs17825668 Germline, CLASSIFICATION record - 43/2794 individuals - - - Mohammed Faruq, VKGL-NL_AMC
-/. 1 - c.1349+1025_1349+1028del r.(=) p.(=) - benign g.77814012_77814015del g.78102966_78102969del ALG8(NM_001007027.2):c.1350-7_1350-4delTTTT - ALG8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.1349+1027_1349+1028del r.(=) p.(=) - benign, likely benign g.77814014_77814015del g.78102968_78102969del 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 r.(=) p.(=) - benign g.77814014_77814015dup g.78102968_78102969dup ALG8(NM_001007027.2):c.1350-5_1350-4dupTT - ALG8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., -/. 2 - c.1349+1028del r.(=) p.(=) - likely benign, benign g.77814015del g.78102969del ALG8(NM_001007027.2):c.1350-4delT, ALG8(NM_001007027.2):c.1350-4delT (p.?) - ALG8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/. 1 - c.1349+1028dup r.(=) p.(=) - benign g.77814015dup g.78102969dup ALG8(NM_001007027.2):c.1350-4dupT - ALG8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1349+1085A>G r.(=) p.(=) - benign g.77813941T>C g.78102895T>C ALG8(NM_001007027.2):c.1403A>G (p.*468=) - ALG8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1401G>T r.(?) p.(Leu467=) - likely benign g.77812190C>A g.78101144C>A ALG8(NM_024079.4):c.1401G>T (p.L467=) - ALG8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.*20A>G r.(=) p.(=) - benign g.77811990T>C g.78100944T>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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