Unique variants in the GBE1 gene

Information The variants shown are described using the NM_000158.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-58G>A r.(?) p.(=) - benign g.81810725C>T g.81761574C>T GBE1(NM_000158.3):c.-58G>A - GBE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-39_-35= r.(=) p.(=) - benign g.81810704dup - GBE1(NM_000158.3):c.-38_-37insC - GBE1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.-9C>A r.(?) p.(=) - likely benign g.81810677G>T g.81761526G>T GBE1(NM_000158.3):c.-9C>A - GBE1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.(2052+1_2053-1)_*708{0} r.? p.? - pathogenic (recessive) g.(?_81538850)_(81539615_81548260)del - E16 del - GBE1_000052 - PubMed: Wang 2013 - - Germline - - - - - LOVD
-?/. 1 - c.15G>A r.(?) p.(Met5Ile) - likely benign g.81810654C>T g.81761503C>T GBE1(NM_000158.3):c.15G>A (p.E5=) - GBE1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.118C>A r.(?) p.(Pro40Thr) - benign g.81810551G>T g.81761400G>T GBE1(NM_000158.3):c.118C>A (p.P40T) - GBE1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.118C>T r.(?) p.(Pro40Ser) - likely benign g.81810551G>A g.81761400G>A GBE1(NM_000158.3):c.118C>T (p.P40S) - GBE1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.143+10G>T r.(=) p.(=) - benign g.81810516C>A g.81761365C>A GBE1(NM_000158.3):c.143+10G>T - GBE1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/., ?/. 4 - c.176T>C r.(?) p.(Ile59Thr) - likely benign, VUS g.81754732A>G g.81705581A>G GBE1(NM_000158.3):c.176T>C (p.I59T, p.L59P) - GBE1_000018 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs28763904 CLASSIFICATION record, Germline - 3/2793 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC, Mohammed Faruq
+?/. 1 - c.263G>A r.(?) p.(Cys88Tyr) - likely pathogenic (recessive) g.81754645C>T g.81705494C>T - - GBE1_000046 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Johan den Dunnen
-/. 2 - c.342C>T r.(?) p.(Tyr114=) - benign g.81720076G>A g.81670925G>A GBE1(NM_000158.3):c.342C>T (p.Y114=) - GBE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 2 - c.405C>T r.(?) p.(Leu135=) - likely benign g.81720013G>A g.81670862G>A GBE1(NM_000158.3):c.405C>T (p.L135=, p.T135=) - GBE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.488A>G r.(?) p.(Tyr163Cys) - VUS g.81699014T>C g.81649863T>C GBE1(NM_000158.3):c.488A>G (p.Y163C) - GBE1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.505del r.(?) p.(Asp169IlefsTer3) - pathogenic g.81698997del g.81649846del - - GBE1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.538C>A r.(?) p.(Pro180Thr) - VUS g.81698964G>T g.81649813G>T GBE1(NM_000158.3):c.538C>A (p.P180T) - GBE1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 4 - c.568A>G r.(?) p.(Arg190Gly) - benign g.81698130T>C g.81648979T>C GBE1(NM_000158.3):c.568A>G (p.R190G, p.K190E) - GBE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 2 - c.579G>A r.(?) p.(Lys193=) - benign g.81698119C>T g.81648968C>T GBE1(NM_000158.3):c.579G>A (p.K193=) - GBE1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.606T>G r.(?) p.(Ser202=) - VUS g.81698092A>C g.81648941A>C GBE1(NM_000158.3):c.606T>G (p.(=)) - GBE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.691G>C r.(?) p.(Gly231Arg) - VUS g.81698007C>G g.81648856C>G GBE1(NM_000158.3):c.691G>C (p.G231R) - GBE1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 8 - c.691+2T>C r.spl, r.spl? p.? ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 combination of variants not reported, VKGL data sharing initiative Nederland PubMed: Ravenscroft 2013, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020, PubMed: Topf 2020 - - CLASSIFICATION record, Germline yes 1/1001 cases - - - Johan den Dunnen, Gianina Ravenscroft, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+?/. 1 - c.708G>C r.(?) p.(Gln236His) ACMG likely pathogenic (recessive) g.81695617C>G g.81646466C>G - - GBE1_000049 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - Gianina Ravenscroft
+/., +?/., ?/. 4 6 c.760A>G r.(?) p.(Thr254Ala) - likely pathogenic, pathogenic, pathogenic (recessive), VUS g.81695565T>C g.81646414T>C GBE1(NM_000158.3):c.760A>G (p.(Thr254Ala), p.T254A) - GBE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Jonathan De Winter
?/. 1 - c.763A>G r.(?) p.(Ser255Gly) - VUS g.81695562T>C g.81646411T>C - - GBE1_000030 - - - - Unknown - - - - - Gunnar Schmidt
-?/. 1 - c.839G>A r.(?) p.(Gly280Asp) - likely benign g.81692085C>T - GBE1(NM_000158.3):c.839G>A (p.G280D) - GBE1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.956A>G r.(?) p.(His319Arg) - pathogenic (recessive) g.81691968T>C g.81642817T>C - - GBE1_000043 - PubMed: Ravenscroft 2013 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.986A>C r.(?) p.(Tyr329Ser) - likely pathogenic g.81691938T>G - - - GBE1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/., ?/. 6 7 c.986A>G r.(?) p.(Tyr329Cys) - likely pathogenic, pathogenic, VUS g.81691938T>C g.81642787T>C GBE1(NM_000158.3):c.985A>G (p.(Tyr329Cys)), GBE1(NM_000158.3):c.986A>G (p.Q329R), 1 more item - GBE1_000001 1 heterozygous, no homozygous; Clinindb (India), Mochel et al. 2012. Ann Neurol 72: 433, 1 more item PubMed: Nair 2018, PubMed: Narang 2020, Journal: Narang 2020 - rs80338671 CLASSIFICATION record, Germline, Unknown ? 1/2793 individuals - - - Andreas Laner, Claire Guissart, VKGL-NL_Leiden, VKGL-NL_Rotterdam, Mohammed Faruq
-/. 3 - c.1000= r.(=) p.(Val334=) - benign g.81643167T>C g.81594016T>C GBE1(NM_000158.3):c.1000A>G (p.I334V) - GBE1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 - c.1063C>T r.(?) p.(Arg355Cys) - pathogenic g.81643104G>A g.81593953G>A GBE1(NM_000158.3):c.1063C>T (p.R355C) - GBE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1134T>G r.(?) p.(Ser378Arg) - likely benign g.81640290A>C - GBE1(NM_000158.3):c.1134T>G (p.S378R) - GBE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1375G>T r.(?) p.(Asp459Tyr) - VUS g.81630387C>A g.81581236C>A GBE1(NM_000158.3):c.1375G>T (p.G459*) - GBE1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1471G>A r.(?) p.(Ala491Thr) - likely pathogenic g.81627223C>T g.81578072C>T - - GBE1_000051 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
?/. 4 - c.1492G>A r.(?) p.(Glu498Lys) - VUS g.81627202C>T g.81578051C>T GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.1496T>C r.(?) p.(Met499Thr) - pathogenic g.81627198A>G - GBE1(NM_000158.3):c.1496T>C (p.M499T) - GBE1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.1519A>G r.(?) p.(Thr507Ala) - benign, likely benign g.81627175T>C g.81578024T>C GBE1(NM_000158.3):c.1519A>G (p.T507A) - GBE1_000025 5 homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs2228389 CLASSIFICATION record, Germline - 5/2794 individuals - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-?/. 2 - c.1521T>C r.(?) p.(Thr507=) - likely benign g.81627173A>G g.81578022A>G GBE1(NM_000158.3):c.1521T>C (p.T507=, p.D507=) - GBE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 - c.1571G>A r.(?) p.(Arg524Gln) - likely pathogenic g.81627123C>T g.81577972C>T - - GBE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1621A>T r.(?) p.(Asn541Tyr) - pathogenic g.81586244T>A g.81537093T>A - - GBE1_000047 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Johan den Dunnen
?/. 1 - c.1745A>C r.(?) p.(Asn582Thr) - VUS g.81586120T>G g.81536969T>G GBE1(NM_000158.3):c.1745A>C (p.*582Sext*2) - GBE1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1787G>A r.(?) p.(Trp596Ter) - pathogenic g.81586078C>T g.81536927C>T GBE1(NM_000158.3):c.1787G>A (p.W596*) - GBE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1803G>A r.(?) p.(Gln601=) - VUS g.81586062C>T g.81536911C>T GBE1(NM_000158.3):c.1803G>A (p.Q601=) - GBE1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1932G>A r.(?) p.(Gly644=) - likely benign g.81584348C>T g.81535197C>T - - GBE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2017G>A r.(?) p.(Ala673Thr) - likely benign g.81548296C>T g.81499145C>T GBE1(NM_000158.3):c.2017G>A (p.A673T) - GBE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2052+51_2052+52insCTT r.(=) p.(=) - benign g.81548211_81548212insGAA g.81499060_81499061insGAA GBE1(NM_000158.3):c.2052+51_2052+52insCTT - GBE1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2067C>T r.(?) p.(Ser689=) - likely benign g.81539600G>A g.81490449G>A GBE1(NM_000158.3):c.2067C>T (p.N689=) - GBE1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 16 c.2081T>A r.(?) p.(Ile694Asn) - pathogenic (recessive) g.81539586A>T g.81490435A>T - - GBE1_000053 - - - - Germline - - - - - Jonathan De Winter
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