Full data view for gene GBE1

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

106 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-58G>A r.(?) p.(=) Unknown - benign g.81810725C>T g.81761574C>T GBE1(NM_000158.3):c.-58G>A - GBE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-39_-35= r.(=) p.(=) Unknown - benign g.81810704dup - GBE1(NM_000158.3):c.-38_-37insC - GBE1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-9C>A r.(?) p.(=) Unknown - likely benign g.81810677G>T g.81761526G>T GBE1(NM_000158.3):c.-9C>A - GBE1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(2052+1_2053-1)_*708{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_81538850)_(81539615_81548260)del - E16 del - GBE1_000052 - PubMed: Wang 2013 - - Germline - - - 0 - DNA SEQ - - GSD P4 PubMed: Wang 2013 - M - United States - - 0 - - 1 LOVD
-?/. - c.15G>A r.(?) p.(Met5Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.118C>A r.(?) p.(Pro40Thr) Unknown - likely benign g.81810551G>T g.81761400G>T GBE1(NM_000158.3):c.117C>A (p.(Pro40Thr)), GBE1(NM_000158.3):c.118C>A (p.P40T) - GBE1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.118C>A r.(?) p.(Pro40Thr) Unknown - benign g.81810551G>T g.81761400G>T GBE1(NM_000158.3):c.117C>A (p.(Pro40Thr)), GBE1(NM_000158.3):c.118C>A (p.P40T) - GBE1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118C>T r.(?) p.(Pro40Ser) Unknown - likely benign g.81810551G>A g.81761400G>A GBE1(NM_000158.3):c.118C>T (p.P40S, p.(Pro40Ser)) - GBE1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118C>T r.(?) p.(Pro40Ser) Unknown - VUS g.81810551G>A g.81761400G>A GBE1(NM_000158.3):c.118C>T (p.P40S, p.(Pro40Ser)) - GBE1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.143+10G>T r.(=) p.(=) Unknown - benign g.81810516C>A g.81761365C>A GBE1(NM_000158.3):c.143+10G>T - GBE1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.143+10G>T r.(=) p.(=) Unknown - benign g.81810516C>A g.81761365C>A GBE1(NM_000158.3):c.143+10G>T - GBE1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.143+10G>T r.(=) p.(=) Unknown - benign g.81810516C>A g.81761365C>A GBE1(NM_000158.3):c.143+10G>T - GBE1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.143+10G>T r.(=) p.(=) Unknown - benign g.81810516C>A g.81761365C>A GBE1(NM_000158.3):c.143+10G>T - GBE1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143+11A>C r.(=) p.(=) Unknown - likely benign g.81810515T>G - GBE1(NM_000158.3):c.142+11A>C (p.(=)) - GBE1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176T>C r.(?) p.(Ile59Thr) Unknown - likely benign g.81754732A>G g.81705581A>G GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.I59T, p.L59P) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.176T>C r.(?) p.(Ile59Thr) Unknown - likely benign g.81754732A>G g.81705581A>G GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.I59T, p.L59P) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176T>C r.(?) p.(Ile59Thr) Unknown - likely benign g.81754732A>G g.81705581A>G GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.I59T, p.L59P) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176T>C r.(?) p.(Ile59Thr) Parent #1 - likely benign g.81754732A>G g.81705581A>G - - GBE1_000018 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28763904 Germline - 3/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
?/. - c.176T>C r.(?) p.(Ile59Thr) Unknown - VUS g.81754732A>G - GBE1(NM_000158.3):c.175T>C (p.(Ile59Thr)), GBE1(NM_000158.3):c.176T>C (p.I59T, p.L59P) - GBE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.263G>A r.(?) p.(Cys88Tyr) Paternal (confirmed) - likely pathogenic (recessive) g.81754645C>T g.81705494C>T - - GBE1_000046 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - DNA SEQ, SEQ-NG - WES ? Pat14 PubMed: Pronicka 2016 - F - Poland - - 0 - - 1 Johan den Dunnen
-/. - c.342C>T r.(?) p.(Tyr114=) Unknown - benign g.81720076G>A g.81670925G>A GBE1(NM_000158.3):c.342C>T (p.Y114=, p.(Tyr114=)) - GBE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.342C>T r.(?) p.(Tyr114=) Unknown - benign g.81720076G>A g.81670925G>A GBE1(NM_000158.3):c.342C>T (p.Y114=, p.(Tyr114=)) - GBE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.342C>T r.(?) p.(Tyr114=) Unknown - benign g.81720076G>A - GBE1(NM_000158.3):c.342C>T (p.Y114=, p.(Tyr114=)) - GBE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405C>T r.(?) p.(Leu135=) Unknown - likely benign g.81720013G>A g.81670862G>A GBE1(NM_000158.3):c.404C>T (p.(Leu135=)), GBE1(NM_000158.3):c.405C>T (p.L135=, p.T135=) - GBE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.405C>T r.(?) p.(Leu135=) Unknown - likely benign g.81720013G>A g.81670862G>A GBE1(NM_000158.3):c.404C>T (p.(Leu135=)), GBE1(NM_000158.3):c.405C>T (p.L135=, p.T135=) - GBE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405C>T r.(?) p.(Leu135=) Unknown - likely benign g.81720013G>A - GBE1(NM_000158.3):c.404C>T (p.(Leu135=)), GBE1(NM_000158.3):c.405C>T (p.L135=, p.T135=) - GBE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488A>G r.(?) p.(Tyr163Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.505del r.(?) p.(Asp169IlefsTer3) Unknown - pathogenic g.81698997del g.81649846del - - GBE1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.538C>A r.(?) p.(Pro180Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.555+14del r.(=) p.(=) Unknown - VUS g.81698935del g.81649784del GBE1(NM_000158.3):c.554+14del (p.(=)) - GBE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568A>G r.(?) p.(Arg190Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.568A>G r.(?) p.(Arg190Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.568A>G r.(?) p.(Arg190Gly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.568A>G r.(?) p.(Arg190Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579G>A r.(?) p.(Lys193=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.579G>A r.(?) p.(Lys193=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584G>A r.(?) p.(Arg195Gln) Unknown - VUS g.81698114C>T g.81648963C>T GBE1(NM_000158.3):c.584G>A (p.(Arg195Gln)) - GBE1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.606T>G r.(?) p.(Ser202=) Unknown - VUS g.81698092A>C g.81648941A>C GBE1(NM_000158.3):c.606T>G (p.(=)) - GBE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.691G>C r.(?) p.(Gly231Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl? p.? Unknown - pathogenic g.81698005A>G g.81648854A>G GBE1(NM_000158.3):c.690+2T>C (p.?), GBE1(NM_000158.3):c.691+2T>C - GBE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691+2T>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.81698005A>G g.81648854A>G - - GBE1_000027 - PubMed: Ravenscroft 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - ? Fam PubMed: Ravenscroft 2013 2-generation family, 3 affected fetuses (F, 2M), unaffected heterozygous carrier parents F;M no Australia - - 0 - - 3 Johan den Dunnen
+/. - c.691+2T>C r.spl p.? Parent #2 ACMG pathogenic (recessive) g.81698005A>G g.81648854A>G - - GBE1_000027 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - DNA SEQ - - DA D18-0978 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - 1 Gianina Ravenscroft
+?/. - c.691+2T>C r.spl p.? Unknown - likely pathogenic g.81698005A>G g.81648854A>G - - GBE1_000027 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.708G>C r.(?) p.(Gln236His) Parent #1 ACMG likely pathogenic (recessive) g.81695617C>G g.81646466C>G - - GBE1_000049 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - DNA SEQ - - DA D18-0978 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - 1 Gianina Ravenscroft
+/. - c.760A>G r.(?) p.(Thr254Ala) Unknown - pathogenic 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.760A>G r.(?) p.(Thr254Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.760A>G r.(?) p.(Thr254Ala) Unknown - likely pathogenic 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.760A>G r.(?) p.(Thr254Ala) Maternal (confirmed) - pathogenic (recessive) g.81695565T>C g.81646414T>C - - GBE1_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - APBN - - - M no Belgium white - - - - 1 Jonathan De Winter
+/. - c.760A>G r.(?) p.(Thr254Ala) Paternal (confirmed) ACMG likely pathogenic (recessive) g.81695565T>C - - - GBE1_000014 - - - - Germline yes - - 0 - DNA SEQ-NG-I Peripheral blood sample Whole exome sequencing APBN A:II:A - Index case family A (Antwerp) M no Belgium White >57y - - - 2 Jonathan De Winter
+/. - c.760A>G r.(?) p.(Thr254Ala) Unknown ACMG likely pathogenic (recessive) g.81695565T>C - - - GBE1_000014 - - - - Germline yes - - 0 - DNA SEQ-NG-I Peripheral blood sample - APBN B:II:A - - M no Belgium white >58y - - - 1 Jonathan De Winter
?/. - c.763A>G r.(?) p.(Ser255Gly) Unknown - VUS g.81695562T>C g.81646411T>C - - GBE1_000030 - - - - Unknown - - - 0 - DNA SEQ - - - - - - F - - - - 0 - - 1 Gunnar Schmidt
-?/. - c.839G>A r.(?) p.(Gly280Asp) Unknown - likely benign g.81692085C>T - GBE1(NM_000158.3):c.839G>A (p.G280E, p.G280D) - GBE1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.839G>A r.(?) p.(Gly280Asp) Unknown - VUS g.81692085C>T - GBE1(NM_000158.3):c.839G>A (p.G280E, p.G280D) - GBE1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.956A>G r.(?) p.(His319Arg) Maternal (confirmed) - pathogenic (recessive) g.81691968T>C g.81642817T>C - - GBE1_000043 - PubMed: Ravenscroft 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - ? Fam PubMed: Ravenscroft 2013 2-generation family, 3 affected fetuses (F, 2M), unaffected heterozygous carrier parents F;M no Australia - - 0 - - 3 Johan den Dunnen
+?/. - c.986A>C r.(?) p.(Tyr329Ser) Unknown - likely pathogenic g.81691938T>G - - - GBE1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.986A>G r.(?) p.(Tyr329Cys) Unknown - pathogenic g.81691938T>C g.81642787T>C - - GBE1_000001 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - SCAR - ATX478 - F - France - - 0 - - 1 Claire Guissart
+/. - c.986A>G r.(?) p.(Tyr329Cys) Parent #1 - pathogenic g.81691938T>C g.81642787T>C - - GBE1_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338671 Germline - 1/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.986A>G r.(?) p.(Tyr329Cys) Unknown - VUS g.81691938T>C g.81642787T>C - - GBE1_000001 Mochel et al. 2012. Ann Neurol 72: 433 - - rs80338671 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
?/. - c.986A>G r.(?) p.(Tyr329Cys) Unknown - VUS g.81691938T>C - GBE1(NM_000158.3):c.985A>G (p.(Tyr329Cys)), GBE1(NM_000158.3):c.986A>G (p.Q329R) - GBE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.986A>G r.(?) p.(Tyr329Cys) Unknown - likely pathogenic g.81691938T>C - GBE1(NM_000158.3):c.985A>G (p.(Tyr329Cys)), GBE1(NM_000158.3):c.986A>G (p.Q329R) - GBE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.986A>G r.(?) p.(Tyr329Cys) Both (homozygous) - likely pathogenic g.81691938T>C g.81642787T>C NM_000158.3:c.986A>G; p.Tyr329Cys - GBE1_000001 - PubMed: Nair 2018 - rs80338671 Unknown ? - - 0 - DNA SEQ-NG-I - whole exome sequencing GSD4 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - 1 LOVD
-/. - c.1000= r.(=) p.(Val334=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1000= r.(=) p.(Val334=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1000= r.(=) p.(Val334=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1063C>T r.(?) p.(Arg355Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1094A>G r.(?) p.(His365Arg) Unknown - VUS g.81643073T>C g.81593922T>C GBE1(NM_000158.3):c.1094A>G (p.(His365Arg)) - GBE1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1134T>G r.(?) p.(Ser378Arg) Unknown - likely benign g.81640290A>C - GBE1(NM_000158.3):c.1134T>G (p.S378R) - GBE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1237-18C>T r.(=) p.(=) Unknown - likely benign g.81635359G>A g.81586208G>A GBE1(NM_000158.3):c.1236-18C>T (p.(=)) - GBE1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1375G>T r.(?) p.(Asp459Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1471G>A r.(?) p.(Ala491Thr) Unknown - likely pathogenic g.81627223C>T g.81578072C>T - - GBE1_000051 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
?/. - c.1492G>A r.(?) p.(Glu498Lys) Unknown - VUS g.81627202C>T g.81578051C>T GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1492G>A r.(?) p.(Glu498Lys) Unknown - VUS g.81627202C>T g.81578051C>T GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1492G>A r.(?) p.(Glu498Lys) Unknown - VUS g.81627202C>T g.81578051C>T GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1492G>A r.(?) p.(Glu498Lys) Unknown - VUS g.81627202C>T g.81578051C>T GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1492G>A r.(?) p.(Glu498Lys) Unknown - VUS g.81627202C>T - GBE1(NM_000158.3):c.1491G>A (p.(Glu498Lys)), GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1492G>A r.(?) p.(Glu498Lys) Unknown ACMG likely pathogenic (recessive) g.81627202C>T - - - GBE1_000009 - - - - Germline yes - - 0 - DNA SEQ-NG-I Peripheral blood sample - APBN C:II:A - - M no Belgium White >73y - - - 1 Jonathan De Winter
+?/. - c.1496T>A r.(?) p.(Met499Lys) Maternal (confirmed) ACMG likely pathogenic g.81627198A>T - - - GBE1_000058 - - - - Germline - - - - - DNA SEQ-NG - - GSD4 - - - F - - - - - - - 1 Ponghatai Damrongphol
+/. - c.1496T>C r.(?) p.(Met499Thr) Unknown - pathogenic g.81627198A>G - GBE1(NM_000158.3):c.1496T>C (p.M499T) - GBE1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1519A>G r.(?) p.(Thr507Ala) Unknown - benign g.81627175T>C g.81578024T>C GBE1(NM_000158.3):c.1519A>G (p.T507A, p.(Thr507Ala)) - GBE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1519A>G r.(?) p.(Thr507Ala) Unknown - benign g.81627175T>C g.81578024T>C GBE1(NM_000158.3):c.1519A>G (p.T507A, p.(Thr507Ala)) - GBE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1519A>G r.(?) p.(Thr507Ala) Both (homozygous) - likely benign g.81627175T>C g.81578024T>C - - GBE1_000025 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2228389 Germline - 5/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
-/. - c.1519A>G r.(?) p.(Thr507Ala) Unknown - benign g.81627175T>C - GBE1(NM_000158.3):c.1519A>G (p.T507A, p.(Thr507Ala)) - GBE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1521T>C r.(?) p.(Thr507=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1521T>C r.(?) p.(Thr507=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1561A>T r.(?) p.(Lys521*) Paternal (confirmed) ACMG pathogenic g.81627133T>A - - - GBE1_000057 - - - - Germline - - - - - DNA SEQ-NG - - GSD4 - - - F - - - - - - - 1 Ponghatai Damrongphol
+?/. - c.1571G>A r.(?) p.(Arg524Gln) Unknown - likely pathogenic g.81627123C>T g.81577972C>T - - GBE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1621A>T r.(?) p.(Asn541Tyr) Maternal (confirmed) - pathogenic g.81586244T>A g.81537093T>A - - GBE1_000047 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - 0 - DNA SEQ, SEQ-NG - WES ? Pat14 PubMed: Pronicka 2016 - F - Poland - - 0 - - 1 Johan den Dunnen
?/. - c.1745A>C r.(?) p.(Asn582Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1787G>A r.(?) p.(Trp596Ter) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1803G>A r.(?) p.(Gln601=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1932G>A r.(?) p.(Gly644=) Unknown - likely benign g.81584348C>T g.81535197C>T - - GBE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1934+1A>G r.spl? p.? Unknown - likely pathogenic g.81584345T>C - GBE1(NM_000158.3):c.1933+1A>G (p.?) - GBE1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2017G>A r.(?) p.(Ala673Thr) Unknown - likely benign g.81548296C>T g.81499145C>T GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T) - GBE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2017G>A r.(?) p.(Ala673Thr) Unknown - likely benign g.81548296C>T g.81499145C>T GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T) - GBE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2017G>A r.(?) p.(Ala673Thr) Unknown - likely benign g.81548296C>T - GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T) - GBE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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