All variants in the GBA2 gene

Information The variants shown are described using the NM_020944.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

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     
-/. - c.-105C>A r.(?) p.(=) - benign g.35748806G>T g.35748809G>T - - GBA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.33C>T r.(=) p.(=) - benign g.35748669G>A g.35748672G>A - - GBA2_000017 66 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34312177 Germline - 66/2795 individuals - - - Mohammed Faruq
-?/. - c.217G>A r.(?) p.(Glu73Lys) - likely benign g.35748485C>T g.35748488C>T GBA2(NM_020944.2):c.217G>A (p.E73K) - GBA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.266G>C r.(?) p.(Cys89Ser) - likely benign g.35748436C>G - GBA2(NM_020944.2):c.266G>C (p.C89S) - CREB3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.323T>C r.(?) p.(Leu108Pro) - likely benign g.35748379A>G g.35748382A>G GBA2(NM_020944.2):c.323T>C (p.L108P) - GBA2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.326G>A r.(?) p.(Ser109Asn) - likely benign g.35748376C>T - GBA2(NM_020944.2):c.326G>A (p.S109N) - CREB3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.390T>G r.(?) p.(His130Gln) - likely benign g.35744673A>C - GBA2(NM_020944.2):c.390T>G (p.(His130Gln)) - CREB3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.425A>G r.(?) p.(Asn142Ser) - likely benign g.35744638T>C g.35744641T>C GBA2(NM_020944.2):c.425A>G (p.N142S) - GBA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.515G>A r.(?) p.(Arg172His) - VUS g.35744346C>T g.35744349C>T - - GBA2_000019 compound heterozygosity of this variant and another GBA2 variant in two patients segregates with the disease in the family - - - Germline yes - - - - Katja Kloth
?/. - c.547C>T r.(?) p.(Arg183Trp) - VUS g.35744314G>A g.35744317G>A GBA2(NM_020944.3):c.547C>T (p.R183W) - CREB3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.815T>C r.(?) p.(Val272Ala) - likely benign g.35741033A>G g.35741036A>G GBA2(NM_020944.2):c.815T>C (p.(Val272Ala)) - CREB3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.946G>A r.(?) p.(Gly316Arg) - likely benign g.35740902C>T g.35740905C>T GBA2(NM_020944.2):c.946G>A (p.(Gly316Arg)) - CREB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1037C>T r.(?) p.(Thr346Met) - VUS g.35740615G>A g.35740618G>A GBA2(NM_020944.2):c.1037C>T (p.T346M) - GBA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1102C>T r.(?) p.(Gln368*) - pathogenic (recessive) g.35740550G>A g.35740553G>A - - GBA2_000018 compound heterozygosity for this variant and another GBA2 variant in two individuals which segregate with the disease (SPG-46) - - - Germline yes - - - - Katja Kloth
-?/. - c.1196G>C r.(?) p.(Arg399Pro) - likely benign g.35740293C>G g.35740296C>G GBA2(NM_001330660.2):c.1196G>C (p.R399P), GBA2(NM_020944.2):c.1196G>C (p.R399P, p.(Arg399Pro)) - GBA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1196G>C r.(?) p.(Arg399Pro) - likely benign g.35740293C>G g.35740296C>G GBA2(NM_001330660.2):c.1196G>C (p.R399P), GBA2(NM_020944.2):c.1196G>C (p.R399P, p.(Arg399Pro)) - GBA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1196G>C r.(?) p.(Arg399Pro) - likely benign g.35740293C>G g.35740296C>G GBA2(NM_001330660.2):c.1196G>C (p.R399P), GBA2(NM_020944.2):c.1196G>C (p.R399P, p.(Arg399Pro)) - GBA2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1323A>T r.(?) p.(Ala441=) - likely benign g.35740081T>A - GBA2(NM_020944.2):c.1323A>T (p.A441=) - CREB3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1357G>A r.(?) p.(Ala453Thr) - likely benign g.35740047C>T g.35740050C>T GBA2(NM_001330660.1):c.1357G>A (p.A453T) - CREB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1358C>A r.(?) p.(Ala453Glu) - benign g.35740046G>T g.35740049G>T GBA2(NM_020944.2):c.1358C>A (p.A453E) - CREB3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1420G>A r.(?) p.(Ala474Thr) - likely benign g.35739787C>T g.35739790C>T GBA2(NM_020944.2):c.1420G>A (p.A474T) - GBA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1552C>T r.(?) p.(Arg518Trp) - VUS g.35739655G>A - GBA2(NM_020944.2):c.1552C>T (p.R518W) - CREB3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1582+4C>T r.spl? p.? - likely benign g.35739621G>A g.35739624G>A GBA2(NM_020944.2):c.1582+4C>T - CREB3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1688-10_1688-9insG r.(=) p.(=) - benign g.35739115_35739116insC g.35739118_35739119insC - - GBA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1688-8T>C r.(=) p.(=) - likely benign g.35739114A>G g.35739117A>G GBA2(NM_001330660.1):c.1688-8T>C - GBA2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1763G>A r.(?) p.(Arg588Lys) - likely benign g.35739031C>T g.35739034C>T GBA2(NM_020944.2):c.1763G>A (p.R588K) - GBA2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1825T>C r.(?) p.(Tyr609His) - likely pathogenic g.35738871A>G g.35738874A>G GBA2(NM_020944.3):c.1825T>C (p.Y609H) - GBA2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1835A>G r.(?) p.(His612Arg) - likely pathogenic g.35738861T>C g.35738864T>C GBA2(NM_020944.3):c.1835A>G (p.H612R) - GBA2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2201G>A r.(?) p.(Arg734His) - likely benign g.35738146C>T g.35738149C>T GBA2(NM_001330660.1):c.2201G>A (p.R734H) - GBA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2220C>A r.(?) p.(Ser740Arg) - VUS g.35738127G>T g.35738130G>T - - GBA2_000016 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200894732 Germline - 3/2795 individuals - - - Mohammed Faruq
?/. - c.2220C>A r.(?) p.(Ser740Arg) - VUS g.35738127G>T - GBA2(NM_001330660.1):c.2220C>A (p.S740R) - GBA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 15 c.2233C>T r.(?) p.(Gln745*) - pathogenic g.35738114G>A g.35738117G>A - - GBA2_000001 - PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - Erik-Jan Kamsteeg
+/. - c.2233C>T r.(?) p.(Gln745Ter) - pathogenic g.35738114G>A g.35738117G>A - - GBA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2259G>C r.(?) p.(Gln753His) - VUS g.35738088C>G - GBA2(NM_001330660.2):c.2259G>C (p.Q753H) - CREB3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.2313+16_2313+18dup r.(=) p.(=) - likely benign g.35738025_35738027dup g.35738028_35738030dup GBA2(NM_001330660.2):c.2313+16_2313+18dupGAG - CREB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2367C>T r.(?) p.(=) - likely benign g.35737883G>A - GBA2(NM_020944.3):c.2367C>T (p.N789=) - CREB3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2478C>T r.(?) p.(Tyr826=) - likely benign g.35737772G>A g.35737775G>A GBA2(NM_001330660.1):c.2478C>T (p.Y826=) - CREB3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2563C>T r.(?) p.(Arg855Cys) - VUS g.35737387G>A - GBA2(NM_020944.3):c.2563C>T (p.R855C) - CREB3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2608C>T r.(?) p.(Arg870*) - likely pathogenic g.35737342G>A - GBA2(NM_020944.3):c.2608C>T (p.(Arg870Ter)) - CREB3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2635C>T r.(?) p.(Arg879Trp) - VUS g.35737315G>A g.35737318G>A - - GBA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*947A>G r.(=) p.(=) - likely benign g.35736219T>C g.35736222T>C CREB3(NM_006368.4):c.697-5T>C (p.?) - CREB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*2032C>T r.(=) p.(=) - VUS g.35735134G>A g.35735137G>A CREB3(NM_006368.4):c.464G>A (p.(Arg155Gln)) - CREB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*2057C>G r.(=) p.(=) - VUS g.35735109G>C g.35735112G>C CREB3(NM_006368.4):c.439G>C (p.E147Q) - CREB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2063G>T r.(=) p.(=) - likely benign g.35735103C>A g.35735106C>A CREB3(NM_006368.4):c.436-3C>A - CREB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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