Full data view for gene GAMT

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

316 entries on 4 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     
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) Parent #2 - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) Parent #1 - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Dhar 2009 - M - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) Parent #1 - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 - M - Canada - - 0 - - 1 Gajja Salomons
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) Parent #1 - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 - F - Canada - - 0 - - 1 Gajja Salomons
+/+ 1 c.11_36dup r.(?) p.(Gly13Profs*38) Parent #2 - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Dhar 2009 Patient no 5 in Dhar et al, 2009 M - - - - 0 - - 1 Gajja Salomons
-/- 1 c.22C>A r.(?) p.(Pro8Thr) Parent #1 - 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 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - - - - - - 0 - - 1 Gajja Salomons
-/- 1 c.22C>A r.(?) p.Pro8Thr Parent #1 - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>T r.(?) p.(Cys16=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54C>T r.(?) p.(Pro18=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - F - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Almeida 2007 - M - Portugal - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 11 in Item et al, 2004 - - Spain - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Father of patient no 11 in Item et al, 2004 M - Spain - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 13 in Item et al, 2004 - - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #2 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 13 in Item et al, 2004 - - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Mother of Pat no 13 in Item et al, 2004 F - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.59G>C r.(?) p.(Trp20Ser) Parent #1 - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Father of pat no 13 in Item et al, 2004 M - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) Parent #1 - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 7 in Item et al, 2004 F - - Kosovo - 0 - - 1 Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) Parent #2 - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 7 in Item et al, 2004 F - - Kosovo - 0 - - 1 Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) Parent #1 - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 8 in Item et al, 2004 F - - Kosovo - 0 - - 1 Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) Parent #2 - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 8 in Item et al, 2004 F - - Kosovo - 0 - - 1 Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) Parent #1 - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Mother of pat no7 & no8 in Item et al, 2004 F - - Kosovo - 0 - - 1 Gajja Salomons
+/+ 1 c.64dup r.(?) p.(Ala22Glyfs*63) Parent #1 - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Father of pat no7 & no8 in Item et al, 2004 M - - Kosovo - 0 - - 1 Gajja Salomons
-/- 1 c.79T>C r.(?) p.(Tyr27His) Parent #1 - 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 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - F - - - - 0 - - 1 Gajja Salomons
-/- 1 c.79T>C r.(?) p.(Tyr27His) Parent #2 - 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 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - F - - - - 0 - - 1 Gajja Salomons
-/- 1 c.79T>C r.(?) p.Tyr27His Parent #2 - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.79T>C r.(?) p.(Tyr27His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79T>C r.(?) p.(Tyr27His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.82G>C r.(?) p.(Asp28His) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.122T>A r.(?) p.(Val41Glu) Unknown - VUS g.1401354A>T g.1401355A>T - - GAMT_015001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - M - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - F - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.(Trp45Arg) Parent #1 - pathogenic (recessive) g.1401343A>T g.1401344A>T - - GAMT_012026 - PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - {PMID23660394:Comeaux 2013 Patient B2 in Comeaux et al, 2013 M - - - - 0 - - 1 Gajja Salomons
+/+ 1 c.133T>A r.(?) p.Trp45Arg Parent #1 - 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 - - - - - - - - - - - - - - - - - - -
+/. - c.133T>A r.(?) p.(Trp45Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133T>A r.(?) p.(Trp45Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.145del r.(?) p.(Tyr49Ilefs*65) Parent #1 - pathogenic (recessive) g.1401331del g.1401332del - - GAMT_012054 - PubMed: Sempere 2009 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Sempere 2009 - - - Spain - - 0 - - 1 Gajja Salomons
+/+ 1 c.145del r.(?) p.(Tyr49Ilefs*65) Parent #2 - pathogenic (recessive) g.1401331del g.1401332del - - GAMT_012054 - PubMed: Sempere 2009 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Sempere 2009 - - - Spain - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) Parent #1 - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Mercimek-Mahmutoglu 2006 - M - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) Parent #2 - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Mercimek-Mahmutoglu 2006 - M - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) Parent #1 - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Mercimek-Mahmutoglu 2006 - F - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.(Met50Leu) Parent #1 - pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Mercimek-Mahmutoglu 2006 - M - France - - 0 - - 1 Gajja Salomons
+/+ 1 c.148A>C r.(?) p.Met50Leu Parent #1 - 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 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.152A>C r.(?) p.(His51Pro) Parent #1 - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - M - Germany - - 0 - - 1 Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) Parent #1 - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 - F - Germany - - 0 - - 1 Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) Parent #1 - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 - M - Germany - - 0 - - 1 Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) Parent #1 - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 9 in Item et al, 2004 - - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.152A>C r.(?) p.(His51Pro) Parent #1 - pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Father of Pat no 9 in Item et al, 2004 M - Turkey - - 0 - - 1 Gajja Salomons
+/+ 1 c.152A>C r.(?) p.His51Pro Parent #1 - 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 - - - - - - - - - - - - - - - - - - -
+/+ 1 c.160G>C r.(?) p.(Ala54Pro) Parent #1 - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 12 in Item et al, 2004 - - Egypt - - 0 - - 1 Gajja Salomons
+/+ 1 c.160G>C r.(?) p.(Ala54Pro) Parent #2 - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Item 2004 Patient no 12 in Item et al, 2004 - - Egypt - - 0 - - 1 Gajja Salomons
+/+ 1 c.160G>C r.(?) p.(Ala54Pro) Parent #1 - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Mother of patient no 12 in Item et al, 2004 F - Egypt - - 0 - - 1 Gajja Salomons
+/+ 1 c.160G>C r.(?) p.(Ala54Pro) Parent #1 - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Item 2004 Father of patient no 12 in Item et al, 2004 M - Egypt - - 0 - - 1 Gajja Salomons
-?/. - c.182-18C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.202G>T r.(?) p.(Gly68Cys) Parent #1 - pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - - - Denmark - - 0 - - 1 Gajja Salomons
+/+ 2 c.202G>T r.(?) p.(Gly68Cys) Parent #2 - pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - - - Denmark - - 0 - - 1 Gajja Salomons
+/+ 2 c.202G>T r.(?) p.(Gly68Cys) Parent #1 - pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - Mahmutoglu et al, in preparation Patient from Lund/ Christensen F - Denmark - - 0 - - 1 Gajja Salomons
+/+ 2 c.202G>T r.(?) p.(Gly68Cys) Parent #2 - pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - Mahmutoglu et al, in preparation Patient from Lund/ Christensen F - Denmark - - 0 - - 1 Gajja Salomons
+/+ 2 c.202G>T r.(?) p.Gly68Cys Parent #2 - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) Parent #1 - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - Mahmutoglu et al, in preparation - M - United States - - 0 - - 1 Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) Parent #1 - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - Mahmutoglu et al, in preparation - F - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) Parent #2 - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - Mahmutoglu et al, in preparation - F - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) Parent #1 - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - F - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 2 c.220G>C r.(?) p.(Ala74Pro) Parent #1 - pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - M - Netherlands - - 0 - - 1 Gajja Salomons
+/+ 2 c.220G>C r.(?) p.Ala74Pro Parent #1 - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.224C>T r.(?) p.(Ala75Val) Parent #1 - pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - Mahmutoglu et al, in preparation - F - France - - 0 - - 1 Gajja Salomons
+/+ 2 c.224C>T r.(?) p.(Ala75Val) Parent #2 - pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - Mahmutoglu et al, in preparation - F - France - - 0 - - 1 Gajja Salomons
+/+ 2 c.224C>T r.(?) p.(Ala75Val) Parent #1 - pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - F - France - - 0 - - 1 Gajja Salomons
+/+ 2 c.224C>T r.(?) p.(Ala75Val) Parent #1 - pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 - Mahmutoglu et al, in preparation - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Mahmutoglu et al, in preparation - M - France - - 0 - - 1 Gajja Salomons
+/+ 2 c.224C>T r.(?) p.Ala75Val Parent #1 - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.233T>A r.(?) p.(Val78Glu) Parent #1 - pathogenic (recessive) g.1399886A>T g.1399887A>T - - GAMT_012048 - PubMed: Comeaux 2013 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Viau 2013 Patient no 2 in Viau et al, 2013 F - - - - 0 - - 1 Gajja Salomons
+/+ 2 c.233T>A r.(?) p.(Val78Glu) Parent #1 - pathogenic (recessive) g.1399886A>T g.1399887A>T - - GAMT_012048 - PubMed: Comeaux 2013 - - Germline - - - 0 - DNA SEQ - - CCDS2;GAMTD - PubMed: Viau 2013 Patient no 5 in Viau et al, 2013 M - - - - 0 - - 1 Gajja Salomons
-?/. - c.240G>C r.(?) p.(Glu80Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/+ 2_3i c.242_327+65del r.182_327del p.? Parent #1 - pathogenic (recessive) g.1399729_1399879del g.1399730_1399880del g.1637_1787del - GAMT_012042 - PubMed: Mercimek-Mahmutoglu 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CCDS2;GAMTD - PubMed: Mercimek-Mahmutoglu 2006 - M - Netherlands - - 0 - - 1 Gajja Salomons
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