Unique variants in the GYS1 gene

Information The variants shown are described using the NM_001161587.1 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
Legend   How to query  

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.300+7C>T r.(=) p.(=) - likely benign g.49494552G>A - GYS1(NM_002103.4):c.300+7C>T - GYS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.300+8G>A r.(=) p.(=) - likely benign g.49494551C>T - GYS1(NM_002103.4):c.300+8G>A - GYS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.301-1337G>A r.(=) p.(=) - VUS g.49490629C>T g.48987372C>T GYS1(NM_002103.4):c.314G>A (p.R105H) - GYS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.486+1G>A r.spl? p.? - likely pathogenic g.49489106C>T g.48985849C>T GYS1(NM_002103.4):c.678+1G>A - GYS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.800G>A r.(?) p.(Arg267His) - VUS g.49485582C>T g.48982325C>T GYS1(NM_002103.4):c.992G>A (p.R331H) - GYS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.834C>T r.(?) p.(Phe278=) - benign g.49485548G>A g.48982291G>A GYS1(NM_002103.5):c.1026C>T (p.F342=) - GYS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1012del r.(?) p.(Arg338GlyfsTer15) - pathogenic g.49481380del g.48978123del GYS1(NM_002103.5):c.1204delA (p.R402Gfs*15) - GYS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.1054A>G r.(?) p.(Met352Val) - benign, likely benign g.49481243T>C g.48977986T>C GYS1(NM_002103.5):c.1246A>G (p.M416V) - GYS1_000004 132 heterozygous; Clinindb (India), 3 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs5447 CLASSIFICATION record, Germline - 132/2794 individuals, 3/2794 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
-?/. 1 - c.1117-4G>A r.spl? p.? - likely benign g.49477994C>T - GYS1(NM_002103.4):c.1309-4G>A - GYS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1132C>A r.(?) p.(Pro378Thr) - VUS g.49477975G>T g.48974718G>T GYS1(NM_002103.4):c.1324C>A (p.P442T) - GYS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1132C>G r.(?) p.(Pro378Ala) - VUS g.49477975G>C g.48974718G>C - - GYS1_000012 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142951866 Germline - 4/2794 individuals - - - Mohammed Faruq
+/. 1 - c.1618-2A>G r.spl? p.? - pathogenic g.49473114T>C g.48969857T>C GYS1(NM_002103.5):c.1810-2A>G - GYS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1763C>T r.(?) p.(Ser588Phe) - VUS g.49472804G>A g.48969547G>A GYS1(NM_001161587.1):c.1763C>T (p.(Ser588Phe)) - GYS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1800G>T r.(?) p.(Arg600=) - likely benign g.49472767C>A - GYS1(NM_002103.4):c.1992G>T (p.R664=) - FTL_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.*2559G>A r.(=) p.(=) - benign, likely benign g.49469986C>T g.48966729C>T FTL(NM_000146.3):c.522C>T (p.H174=), FTL(NM_000146.4):c.522C>T (p.H174=) - FTL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.*2592G>A r.(=) p.(=) - VUS g.49469953C>T g.48966696C>T FTL(NM_000146.3):c.489C>T (p.G163=) - BAX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2618G>A r.(=) p.(=) - VUS g.49469927C>T g.48966670C>T FTL(NM_000146.3):c.463C>T (p.L155=) - BAX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2645C>T r.(=) p.(=) - VUS g.49469900G>A g.48966643G>A FTL(NM_000146.3):c.436G>A (p.G146S) - BAX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2888G>A r.(=) p.(=) - likely benign g.49469657C>T - FTL(NM_000146.3):c.369C>T (p.D123=) - BAX_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*2998C>A r.(=) p.(=) - pathogenic g.49469547G>T - FTL(NM_000146.3):c.259G>T (p.E87*) - BAX_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3373T>C r.(=) p.(=) - likely benign g.49469172A>G g.48965915A>G FTL(NM_000146.3):c.248A>G (p.K83R) - FTL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3431C>T r.(=) p.(=) - likely benign g.49469114G>A g.48965857G>A FTL(NM_000146.3):c.190G>A (p.E64K) - FTL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.*3458A>G r.(=) p.(=) - benign g.49469087T>C g.48965830T>C FTL(NM_000146.3):c.163T>C (p.L55=), FTL(NM_000146.4):c.163T>C (p.L55=) - FTL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.*3532T>C r.(=) p.(=) - likely benign g.49469013A>G g.48965756A>G FTL(NM_000146.4):c.103-14A>G - FTL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*3698G>C r.(=) p.(=) - VUS g.49468847C>G g.48965590C>G - - BAX_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*3708G>A r.(=) p.(=) - likely benign g.49468837C>T g.48965580C>T FTL(NM_000146.3):c.73C>T (p.L25=) - BAX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*3780T>C r.(=) p.(=) - pathogenic g.49468765A>G g.48965508A>G FTL(NM_000146.3):c.1A>G (p.M1?) - BAX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3893C>T r.(=) p.(=) - likely benign g.49468652G>A g.48965395G>A - - BAX_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.*3941G>A r.(=) p.(=) - pathogenic g.49468604C>T g.48965347C>T - - BAX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.*3941_*3942del r.(=) p.(=) - pathogenic g.49468604_49468605del g.48965347_48965348del FTL(NM_000146.3):c.-161_-160delCA - FTL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*3947G>A r.(=) p.(=) - pathogenic g.49468598C>T g.48965341C>T FTL(NM_000146.3):c.-167C>T - FTL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*3948C>A r.(=) p.(=) - pathogenic g.49468597G>T - - - FTL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.*3948C>T r.(=) p.(=) - pathogenic g.49468597G>A g.48965340G>A FTL(NM_000146.3):c.-168G>A - FTL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
Legend   How to query