All variants in the GAMT gene

Information The variants shown are described using the NM_000156.5 transcript reference sequence.

309 entries on 4 pages. Showing entries 1 - 100.
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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     
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - Gajja Salomons
-/- 1 c.22C>A r.(?) p.(Pro8Thr) - benign g.1401454G>T g.1401455G>T - - GAMT_012043 rare variant not associated with GAMT deficiency (overexpression does not restore GAMT activity) Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
-/- 1 c.22C>A r.(?) p.Pro8Thr - NA g.1401454G>T g.1401455G>T - - GAMT_012043 overexpression in primary GAMT deficient fibroblasts restores GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - Gajja Salomons
-?/. - c.48C>T r.(?) p.(Cys16=) - likely benign g.1401428G>A g.1401429G>A GAMT(NM_138924.2):c.48C>T (p.C16=) - GAMT_015002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.54C>T r.(?) p.(Pro18=) - likely benign g.1401422G>A g.1401423G>A GAMT(NM_000156.6):c.54C>T (p.P18=) - GAMT_015003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
-/- 1 c.79T>C r.(?) p.(Tyr27His) - benign g.1401397A>G g.1401398A>G - - GAMT_012044 variant proven to be NOT associated with GAMT deficiency (overexpression does not restore GAMT enzyme activity, homozygous individual have normal activity, high prevalence in control cohorts) Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
-/- 1 c.79T>C r.(?) p.(Tyr27His) - benign g.1401397A>G g.1401398A>G - - GAMT_012044 variant proven to be NOT associated with GAMT deficiency (overexpression does not restore GAMT enzyme activity, homozygous individual have normal activity, high prevalence in control cohorts) Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
-/- 1 c.79T>C r.(?) p.Tyr27His - NA g.1401397A>G g.1401398A>G - - GAMT_012044 overexpression in primary GAMT deficient fibroblasts restores GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - Gajja Salomons
?/. - c.79T>C r.(?) p.(Tyr27His) - VUS g.1401397A>G g.1401398A>G GAMT(NM_000156.6):c.79T>C (p.Y27H), GAMT(NM_138924.2):c.79T>C (p.Y27H) - GAMT_012044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.79T>C r.(?) p.(Tyr27His) - likely benign g.1401397A>G g.1401398A>G GAMT(NM_000156.6):c.79T>C (p.Y27H), GAMT(NM_138924.2):c.79T>C (p.Y27H) - GAMT_012044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.82G>C r.(?) p.(Asp28His) - VUS g.1401394C>G g.1401395C>G GAMT(NM_000156.5):c.82G>C (p.(Asp28His)) - GAMT_012068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.122T>A r.(?) p.(Val41Glu) - VUS g.1401354A>T g.1401355A>T - - GAMT_015001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.133T>A r.(?) p.Trp45Arg - NA g.1401343A>T g.1401344A>T - - GAMT_012026 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - Gajja Salomons
+/. - c.133T>A r.(?) p.(Trp45Arg) - pathogenic g.1401343A>T g.1401344A>T GAMT(NM_000156.5):c.133T>A (p.(Trp45Arg)), GAMT(NM_138924.2):c.133T>A (p.W45R) - GAMT_012026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.133T>A r.(?) p.(Trp45Arg) - VUS g.1401343A>T - GAMT(NM_000156.5):c.133T>A (p.(Trp45Arg)), GAMT(NM_138924.2):c.133T>A (p.W45R) - GAMT_012026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 c.145del r.(?) p.(Tyr49Ilefs*65) - pathogenic (recessive) g.1401331del g.1401332del - - GAMT_012054 - PubMed: Sempere 2009 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.145del r.(?) p.(Tyr49Ilefs*65) - pathogenic (recessive) g.1401331del g.1401332del - - GAMT_012054 - PubMed: Sempere 2009 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.148A>C r.(?) p.Met50Leu - NA g.1401328T>G g.1401329T>G - - GAMT_012017 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.152A>C r.(?) p.His51Pro - NA g.1401324T>G g.1401325T>G - - GAMT_012002 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - Gajja Salomons
+/+ 1 c.160G>C r.(?) p.(Ala54Pro) - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.160G>C r.(?) p.(Ala54Pro) - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.160G>C r.(?) p.(Ala54Pro) - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
+/+ 1 c.160G>C r.(?) p.(Ala54Pro) - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - 0 - Gajja Salomons
-?/. - c.182-18C>T r.(=) p.(=) - likely benign g.1399955G>A g.1399956G>A GAMT(NM_000156.6):c.182-18C>T - NDUFS7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 2 c.202G>T r.(?) p.(Gly68Cys) - pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.202G>T r.(?) p.(Gly68Cys) - pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.202G>T r.(?) p.(Gly68Cys) - pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.202G>T r.(?) p.(Gly68Cys) - pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.202G>T r.(?) p.Gly68Cys - NA g.1399917C>A g.1399918C>A - - GAMT_012040 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.220G>C r.(?) p.Ala74Pro - NA g.1399899C>G g.1399900C>G - - GAMT_012007 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - Gajja Salomons
+/+ 2 c.224C>T r.(?) p.(Ala75Val) - pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.224C>T r.(?) p.(Ala75Val) - pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.224C>T r.(?) p.(Ala75Val) - pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.224C>T r.(?) p.(Ala75Val) - pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 - Mahmutoglu et al, in preparation - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.224C>T r.(?) p.Ala75Val - NA g.1399895G>A g.1399896G>A - - GAMT_012030 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - In vitro (cloned) - - - 0 - Gajja Salomons
+/+ 2 c.233T>A r.(?) p.(Val78Glu) - pathogenic (recessive) g.1399886A>T g.1399887A>T - - GAMT_012048 - PubMed: Comeaux 2013 - - Germline - - - 0 - Gajja Salomons
+/+ 2 c.233T>A r.(?) p.(Val78Glu) - pathogenic (recessive) g.1399886A>T g.1399887A>T - - GAMT_012048 - PubMed: Comeaux 2013 - - Germline - - - 0 - Gajja Salomons
-?/. - c.240G>C r.(?) p.(Glu80Asp) - likely benign g.1399879C>G g.1399880C>G GAMT(NM_000156.5):c.240G>C (p.(Glu80Asp)) - GAMT_012067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/+ 2_3i c.242_327+65del r.182_327del p.? - pathogenic (recessive) g.1399729_1399879del g.1399730_1399880del g.1637_1787del - GAMT_012042 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - Gajja Salomons
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