Full data view for gene GYS2

Information The variants shown are described using the NM_021957.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.116A>G r.(?) p.(Asn39Ser) Parent #1 - pathogenic g.21757411T>C g.21604477T>C - - GYS2_000013 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918423 Germline - 2/2769 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.365A>C r.(?) p.(Tyr122Ser) Unknown - VUS g.21728930T>G - NM_021957:c.A365C (Y122S) - GYS2_000017 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0028 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.439C>G r.(?) p.(Arg147Gly) Unknown - VUS g.21728856G>C - GYS2(NM_021957.4):c.439C>G (p.R147G) - GYS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.547C>T r.(?) p.(Gln183*) Parent #1 - pathogenic g.21727209G>A g.21574275G>A - - GYS2_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201157731 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.547C>T r.(?) p.(Gln183*) Unknown - pathogenic g.21727209G>A - GYS2(NM_021957.4):c.547C>T (p.Q183*) - GYS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.574C>T r.(?) p.(Arg192*) Parent #1 - likely pathogenic g.21727182G>A g.21574248G>A - - GYS2_000011 27 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150382575 Germline - 27/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 27 Mohammed Faruq
?/. - c.734A>G r.(?) p.(Glu245Gly) Unknown - VUS g.21721888T>C - GYS2(NM_021957.4):c.734A>G (p.E245G) - GYS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.736C>T r.(?) p.(Arg246*) Unknown - pathogenic g.21721886G>A - GYS2(NM_021957.4):c.736C>T (p.R246*) - GYS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.942-17G>A r.(=) p.(=) Unknown - benign g.21715989C>T g.21563055C>T - - GYS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1015G>C r.(?) p.(Ala339Pro) Unknown - likely pathogenic g.21715899C>G g.21562965C>G - - GYS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1087A>G r.(?) p.(Met363Val) Unknown - benign g.21713402T>C g.21560468T>C GYS2(NM_021957.4):c.1087A>G (p.M363V) - GYS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1169+12A>T r.(=) p.(=) Unknown - benign g.21713308T>A g.21560374T>A GYS2(NM_021957.4):c.1169+12A>T - GYS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1169+12A>T r.(=) p.(=) Unknown - benign g.21713308T>A g.21560374T>A GYS2(NM_021957.4):c.1169+12A>T - GYS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1170-101_1170-100insC r.(=) p.(=) Unknown - benign g.21712744_21712745insG g.21559810_21559811insG GYS2(NM_021957.4):c.1170-101_1170-100insC - GYS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1229+11G>A r.(=) p.(=) Unknown - benign g.21712574C>T g.21559640C>T GYS2(NM_021957.4):c.1229+11G>A - GYS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1229+11G>A r.(=) p.(=) Unknown - benign g.21712574C>T g.21559640C>T GYS2(NM_021957.4):c.1229+11G>A - GYS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1636A>G r.(?) p.(Thr546Ala) Parent #1 - likely benign g.21695439T>C g.21542505T>C - - GYS2_000010 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61733199 Germline - 21/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
-/. - c.1890+25del r.(=) p.(=) Unknown - benign g.21692175del g.21539241del GYS2(NM_021957.4):c.1890+25delT - GYS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2054T>C r.(?) p.(Phe685Ser) Unknown - likely benign g.21689946A>G g.21537012A>G GYS2(NM_021957.4):c.2054T>C (p.F685S) - C12orf39_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2072C>T r.(?) p.(Pro691Leu) Unknown - VUS g.21689928G>A - GYS2(NM_021957.4):c.2072C>T (p.P691L) - C12orf39_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6A>T r.(=) p.(=) Unknown - benign g.21689882T>A g.21536948T>A GYS2(NM_021957.4):c.*6A>T - GYS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6A>T r.(=) p.(=) Unknown - benign g.21689882T>A g.21536948T>A GYS2(NM_021957.4):c.*6A>T - GYS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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