All variants in the GNAL gene

Information The variants shown are described using the NM_001142339.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-62201A>G r.(?) p.(=) - likely benign g.11689607A>G - GNAL(NM_182978.3):c.45A>G (p.P15=) - GNAL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-62153G>T r.(?) p.(=) - VUS g.11689655G>T g.11689656G>T GNAL(NM_182978.3):c.93G>T (p.(Gln31His)) - GNAL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-62133_-62128del r.(?) p.(=) - likely benign g.11689675_11689680del g.11689676_11689681del GNAL(NM_182978.4):c.113_118delTGGCCC (p.L38_A39del) - GNAL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-62133_-62128dup r.(?) p.(=) - likely benign g.11689675_11689680dup g.11689676_11689681dup GNAL(NM_182978.4):c.113_118dupTGGCCC (p.L38_A39dup), GNAL(NM_182978.4):c.119delCinsTGGCCCC (p.L38_A39dup) - GNAL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-61994G>A r.(?) p.(=) - likely benign g.11689814G>A g.11689815G>A GNAL(NM_182978.3):c.252G>A (p.E84=), GNAL(NM_182978.4):c.252G>A (p.E84=) - GNAL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-61994G>A r.(?) p.(=) - likely benign g.11689814G>A g.11689815G>A GNAL(NM_182978.3):c.252G>A (p.E84=), GNAL(NM_182978.4):c.252G>A (p.E84=) - GNAL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-61980_-61963dup r.(?) p.(=) - VUS g.11689828_11689845dup g.11689829_11689846dup GNAL(NM_182978.3):c.266_283dupCCAAGGAGCGCGAGGCGG (p.A89_A94dup), GNAL(NM_182978.4):c.266_283dupCCAAGGAGCGCGAGGCGG (p.A89_A94dup) - GNAL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-61980_-61963dup r.(?) p.(=) - VUS g.11689828_11689845dup - GNAL(NM_182978.3):c.266_283dupCCAAGGAGCGCGAGGCGG (p.A89_A94dup), GNAL(NM_182978.4):c.266_283dupCCAAGGAGCGCGAGGCGG (p.A89_A94dup) - GNAL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-61962T>C r.(?) p.(=) - VUS g.11689846T>C g.11689847T>C GNAL(NM_182978.4):c.284T>C (p.V95A) - GNAL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-61910G>A r.(?) p.(=) - likely benign g.11689898G>A g.11689899G>A GNAL(NM_182978.4):c.336G>A (p.Q112=) - GNAL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/? 2 c.3G>A r.(?) p.(Met1?) - VUS g.11752435G>A g.11752436G>A - - GNAL_000004 - - - - Germline - - - - - Satya Vemula
-?/. - c.30G>T r.(?) p.(Thr10=) - likely benign g.11752462G>T g.11752463G>T GNAL(NM_001142339.3):c.30G>T (p.T10=) - GNAL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.132C>T r.(?) p.(Arg44=) - likely benign g.11752564C>T g.11752565C>T GNAL(NM_001142339.2):c.132C>T (p.R44=) - GNAL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.218+19C>A r.(=) p.(=) - benign g.11752943C>A g.11752944C>A - - GNAL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.274A>G r.(?) p.(Thr92Ala) - likely benign g.11753825A>G g.11753826A>G GNAL(NM_182978.3):c.505A>G (p.T169A) - GNAL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.291G>T r.(?) p.(Met97Ile) - VUS g.11753842G>T g.11753843G>T - - GNAL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.360C>T r.(?) p.(Ser120=) - likely benign g.11753911C>T g.11753912C>T GNAL(NM_182978.3):c.591C>T (p.S197=) - GNAL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.437T>C r.(?) p.(Val146Ala) - VUS g.11824960T>C g.11824961T>C GNAL(NM_182978.4):c.668T>C (p.V223A) - GNAL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.513C>T r.(?) p.(Ser171=) - likely benign g.11862415C>T g.11862416C>T GNAL(NM_182978.4):c.744C>T (p.S248=) - GNAL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/? 8 c.591dup r.(?) p.(Arg198Thrfs*13) - VUS g.11864576dup g.11864577dup - - GNAL_000002 - - - - Germline - - - - - Satya Vemula
?/. - c.632T>G r.(?) p.(Val211Gly) - VUS g.11867178T>G g.11867179T>G GNAL(NM_182978.4):c.863T>G (p.V288G) - GNAL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.637G>C r.(?) p.(Gly213Arg) - VUS g.11867183G>C - - - GNAL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.679+5T>C r.spl? p.? - likely benign g.11867230T>C - GNAL(NM_182978.3):c.910+5T>C - GNAL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 10 c.682G>T r.(?) p.(Val228Phe) - VUS g.11868544G>T g.11868545G>T - - GNAL_000001 - - - - Germline - - - - - Satya Vemula
?/? 10 c.733C>T r.(?) p.(Arg245*) - VUS g.11868595C>T g.11868596C>T - - GNAL_000003 - - - - Germline - - - - - Satya Vemula
-?/. - c.1056C>T r.(?) p.(Cys352=) - likely benign g.11881044C>T - GNAL(NM_182978.3):c.1287C>T (p.C429=) - GNAL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1061T>A r.(?) p.(Val354Glu) - likely pathogenic g.11881049T>A - GNAL(NM_182978.3):c.1292T>A (p.V431E) - GNAL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1061T>G r.(?) p.(Val354Gly) - VUS g.11881049T>G g.11881050T>G - - GNAL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1071_1072del r.(?) p.(Asn358HisfsTer21) - likely pathogenic g.11881059_11881060del g.11881060_11881061del GNAL(NM_182978.4):c.1302_1303delGA (p.N435Hfs*21) - GNAL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*3464A>C r.(=) p.(=) - VUS g.11884598A>C g.11884599A>C GNAL(NM_182978.4):c.*3464A>C - GNAL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*5853_*5854insGG r.(=) p.(=) - VUS g.11886987_11886988insGG g.11886988_11886989insGG MPPE1(NM_001242904.1):c.606_607insCC (p.(Gly203ProfsTer20)) - MPPE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*5855del r.(?) p.(=) - VUS g.11886989del g.11886990del MPPE1(NM_001242904.1):c.605del (p.(Asp202ValfsTer20)) - MPPE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.*12383C>T r.(=) p.(=) - likely benign g.11893517C>T g.11893518C>T MPPE1(NM_023075.5):c.340G>A (p.V114I) - GNAL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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