Unique variants in the GAMT gene

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

69 entries on 1 page. Showing entries 1 - 69.
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     
+/+ 5 1 c.11_36dup r.(?) p.(Gly13Profs*38) - pathogenic (recessive) g.1401446_1401471dup g.1401447_1401472dup 36_37ins26 - GAMT_012028 - PubMed: Dhar 2009 - - Germline - - - - - Gajja Salomons
-/- 2 1 c.22C>A r.(?) p.(Pro8Thr), p.Pro8Thr - benign, NA g.1401454G>T g.1401455G>T - - GAMT_012043 overexpression in primary GAMT deficient fibroblasts restores GAMT activity, 1 more item Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
-?/. 1 - 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
-?/. 1 - 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
+/+ 32 1 c.59G>C r.(?) p.(Trp20Ser) - pathogenic (recessive) g.1401417C>G g.1401418C>G - - GAMT_012015 - PubMed: Almeida 2007 - - Germline - - - - - Gajja Salomons
+/+ 6 1 c.64dup r.(?) p.(Ala22Glyfs*63) - pathogenic (recessive) g.1401417dup g.1401418dup 64dupG - GAMT_012045 - PubMed: Item 2004 - - Germline - - - - - Gajja Salomons
-/-, -?/. 5 1 c.79T>C r.(?) p.(Tyr27His), p.Tyr27His - benign, likely benign, NA 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 overexpression in primary GAMT deficient fibroblasts restores GAMT activity, 2 more items Mahmutoglu et al, in preparation - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Gajja Salomons, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - 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 - - - - - VKGL-NL_Leiden
?/. 1 - 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
+/+, +/., ?/. 8 1 c.133T>A r.(?) p.(Trp45Arg), p.Trp45Arg - NA, pathogenic, pathogenic (recessive), VUS 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 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity, 1 more item Mahmutoglu et al, in preparation, PubMed: Comeaux 2013, Mahmutoglu et al, in preparation - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - VKGL-NL_Leiden, Gajja Salomons, VKGL-NL_Rotterdam
+/+ 2 1 c.145del r.(?) p.(Tyr49Ilefs*65) - pathogenic (recessive) g.1401331del g.1401332del - - GAMT_012054 - PubMed: Sempere 2009 - - Germline - - - - - Gajja Salomons
+/+ 5 1 c.148A>C r.(?) p.(Met50Leu), p.Met50Leu - NA, pathogenic (recessive) g.1401328T>G g.1401329T>G - - GAMT_012017 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation, PubMed: Mercimek-Mahmutoglu 2006 - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 6 1 c.152A>C r.(?) p.(His51Pro), p.His51Pro - NA, pathogenic (recessive) g.1401324T>G g.1401325T>G - - GAMT_012002 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation, PubMed: Item 2004 - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 4 1 c.160G>C r.(?) p.(Ala54Pro) - pathogenic (recessive) g.1401316C>G g.1401317C>G - - GAMT_012041 - PubMed: Item 2004 - - Germline - - - - - Gajja Salomons
-?/. 1 - 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
+/+ 5 2 c.202G>T r.(?) p.(Gly68Cys), p.Gly68Cys - NA, pathogenic (recessive) g.1399917C>A g.1399918C>A - - GAMT_012040 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 6 2 c.220G>C r.(?) p.(Ala74Pro), p.Ala74Pro - NA, pathogenic (recessive) g.1399899C>G g.1399900C>G - - GAMT_012007 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 5 2 c.224C>T r.(?) p.(Ala75Val), p.Ala75Val - NA, pathogenic (recessive) g.1399895G>A g.1399896G>A - - GAMT_012030 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 2 2 c.233T>A r.(?) p.(Val78Glu) - pathogenic (recessive) g.1399886A>T g.1399887A>T - - GAMT_012048 - PubMed: Comeaux 2013 - - Germline - - - - - Gajja Salomons
-?/. 1 - 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 - - - - - VKGL-NL_Leiden
+/+ 2 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 - - - - - Gajja Salomons
+/+ 3 2 c.274A>G r.(?) p.(Asn92Asp), p.Asn92Asp - NA, pathogenic (recessive) g.1399845T>C g.1399846T>C - - GAMT_012025 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
-?/. 2 - c.279C>T r.(?) p.(Asp93=) - likely benign g.1399840G>A g.1399841G>A GAMT(NM_000156.6):c.279C>T (p.D93=), GAMT(NM_138924.2):c.279C>T (p.D93=) - NDUFS7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+ 8 2 c.289C>T r.(?) p.(Gln97*) - pathogenic (recessive) g.1399830G>A g.1399831G>A - - GAMT_012009 - PubMed: Cheillan 2012 - - Germline - - - - - Gajja Salomons
+/+ 15 2 c.299_311dup r.(?) p.(Arg105Glyfs*26) - pathogenic (recessive) g.1399810_1399822dup g.1399811_1399823dup 299_311dupGGGACTGGGCCCC - GAMT_012018 - Future Neurology; Rosenberg, Almeida 2006; PubMed: Dhar 2009 - - Germline - - - - - Gajja Salomons
+/+ 1 2 c.316C>T r.(?) p.(Gln106*) - pathogenic (recessive) g.1399803G>A g.1399804G>A - - GAMT_012033 - PubMed: Sempere 2009 - - Germline - - - - - Gajja Salomons
+/+, +/., ?/. 67 2 c.327G>A r.(?), r.spl, r.spl? p.(Lys109=), p.? ACMG pathogenic, pathogenic (recessive), VUS g.1399792C>T g.1399793C>T GAMT(NM_138924.2):c.327G>A (p.K109=), GAMT(NM_138924.3):c.327G>A (p.K109=) - GAMT_012004 ACMG PVS1, PM2, PP4, PP5, BP4, VKGL data sharing initiative Nederland PubMed: Item 2004, PubMed: Kritioti 2021 - rs80338735 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Gajja Salomons, VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/+ 3 3 c.328G>T r.(?) p.(Val110Phe), p.Val110Phe - NA, pathogenic (recessive) g.1399586C>A g.1399587C>A - - GAMT_012036 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
-/. 1 - c.348G>A r.(?) p.(Leu116=) - benign g.1399566C>T g.1399567C>T GAMT(NM_138924.3):c.348G>A (p.L116=) - NDUFS7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 2 c.391G>C r.328_391delins r.327+1_r.327+44 p.Gly131Arg - pathogenic (recessive) g.1399523C>G g.1399524C>G - - GAMT_012046 - PubMed: Akiyama 2013 - - Germline - - - - - Gajja Salomons
+/? 5 3i c.391+15G>T r.spl? p.(=) - pathogenic (recessive) g.1399508C>A g.1399509C>A - - GAMT_012032 - PubMed: Cheillan 2012 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.392-45C>T r.(=) p.(=) - likely benign g.1399239G>A g.1399240G>A GAMT(NM_000156.6):c.392-45C>T - GAMT_012065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.392-7C>T r.(=) p.(=) - benign g.1399201G>A g.1399202G>A GAMT(NM_138924.3):c.392-7C>T - NDUFS7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.392-6G>C r.(=) p.(=) - benign g.1399200C>G g.1399201C>G GAMT(NM_000156.6):c.392-6G>C - GAMT_012064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 7 4 c.403G>A r.(?) p.(Asp135Asn), p.Asp135Asn - NA, pathogenic (recessive) g.1399183C>T g.1399184C>T - - GAMT_012006 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation, PubMed: O'Rourke 2009, Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 1 4 c.403G>T r.(?) p.(Asp135Tyr) - pathogenic (recessive) g.1399183C>A g.1399184C>A - - GAMT_012051 - PubMed: Dhar 2009 - - Germline - - - - - Gajja Salomons
+/+ 4 4 c.407C>T r.(?) p.(Thr136Met), p.Thr136Met - NA, pathogenic (recessive) g.1399179G>A g.1399180G>A - - GAMT_012034 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation, PubMed: Sempere 2009 - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 3 4 c.439C>T r.(?) p.(His147Tyr), p.His147Tyr - NA, pathogenic (recessive) g.1399147G>A g.1399148G>A - - GAMT_012035 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/. 1 - c.460-1G>A r.spl? p.? - pathogenic g.1399026C>T - - - NDUFS7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 3 5 c.476T>C r.(?) p.(Leu159Pro), p.Leu159Pro - NA, pathogenic (recessive) g.1399009A>G g.1399010A>G - - GAMT_012037 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+, +/. 12 5 c.491del p.Gly164Alafs*14, r.(?) p.(Gly164Alafs*14), p.(Gly164AlafsTer14) ACMG pathogenic (recessive) g.1398999del g.1399000del 491delG - GAMT_012038 - PubMed: Hu 2019, PubMed: Item 2004 - - Germline - - - - - Johan den Dunnen, Gajja Salomons
+/+, +/. 10 5 c.491dup r.(?) p.(Val165Argfs*26), p.(Val165ArgfsTer26) - pathogenic, pathogenic (recessive) g.1398999dup g.1399000dup 491insG, GAMT(NM_138924.3):c.491dupG (p.V165Rfs*26) - GAMT_012020 VKGL data sharing initiative Nederland 0, PubMed: Carducci 2000 - - CLASSIFICATION record, Germline - - - - - Gajja Salomons, VKGL-NL_VUmc
+/+, +/. 2 5 c.491G>A r.(?) p.(Gly164Asp) - pathogenic, pathogenic (recessive) g.1398994C>T g.1398995C>T - - GAMT_012052 3 heterozygous, no homozygous; Clinindb (India) PubMed: Comeaux 2013, PubMed: Narang 2020, Journal: Narang 2020 - rs760101382 Germline - 3/2787 individuals - - - Gajja Salomons, Mohammed Faruq
+/+ 5 5 c.497T>C r.(?) p.(Leu166Pro), p.Leu166Pro - NA, pathogenic (recessive) g.1398988A>G g.1398989A>G - - GAMT_012012 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 4 5 c.503A>C r.(?) p.(Tyr168Ser) - pathogenic (recessive) g.1398982T>G g.1398983T>G - - GAMT_012056 - PubMed: Bodamer 2009 - - Germline - - - - - Gajja Salomons
+/+ 1 5 c.505T>C r.(?) p.(Cys169Arg) - pathogenic (recessive) g.1398980A>G g.1398981A>G - - GAMT_012053 - PubMed: Comeaux 2013 - - Germline - - - - - Gajja Salomons
+/+ 5 5 c.506G>A r.(?) p.(Cys169Tyr), p.Cys169Tyr - NA, pathogenic (recessive) g.1398979C>T g.1398980C>T - - GAMT_012014 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation, PubMed: Caldeira Araujo 2005, Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+/+ 2 5 c.507_521dup r.(?) p.(Cys169_Ser173dup) - pathogenic (recessive) g.1398967_1398981dup g.1398968_1398982dup 507_521dup15 - GAMT_012050 - PubMed: Dhar 2009 - - Germline - - - - - Gajja Salomons
?/. 1 - c.509A>G r.(?) p.(Asn170Ser) - VUS g.1398976T>C g.1398977T>C GAMT(NM_138924.2):c.509A>G (p.N170S) - GAMT_012063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 3 5 c.521G>A r.(?) p.(Trp174*) - pathogenic (recessive) g.1398964C>T g.1398965C>T - - GAMT_012016 - Future Neurology; Rosenberg, Almeida 2006 - - Germline - - - - - Gajja Salomons
+/+ 7 5 c.522G>A r.(?) p.(Trp174*) - pathogenic (recessive) g.1398963C>T g.1398964C>T - - GAMT_012027 - PubMed: Morris 2006 - - Germline - - - - - Gajja Salomons
+/? 5 5 c.526dup r.(?) p.(Glu176Glyfs*15) - pathogenic (recessive) g.1398964dup g.1398965dup 526dupG - GAMT_012003 - PubMed: Item 2004 - - Germline - - - - - Gajja Salomons
?/. 1 - c.553A>C r.(?) p.(Ile185Leu) - VUS g.1398932T>G - GAMT(NM_138924.2):c.553A>C (p.I185L) - NDUFS7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.570+153C>A r.(=) p.(=) - likely benign g.1398762G>T g.1398763G>T GAMT(NM_138924.2):c.723C>A (p.V241=) - NDUFS7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.570+165G>A r.(=) p.(=) - benign g.1398750C>T g.1398751C>T GAMT(NM_138924.3):c.735G>A (p.A245=) - NDUFS7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.570+241G>C r.(=) p.(=) - likely benign g.1398674C>G g.1398675C>G GAMT(NM_138924.3):c.*1G>C - NDUFS7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.571-6G>A r.(=) p.(=) - benign g.1397504C>T g.1397505C>T GAMT(NM_000156.5):c.571-6G>A - GAMT_012021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 2 5i c.571-3C>G r.spl? p.? - pathogenic (recessive) g.1397501G>C g.1397502G>C - - GAMT_012055 - PubMed: Carducci 2000 - - Germline - - - - - Gajja Salomons
+/+ 2 6 c.577C>T r.(?) p.(Gln193*) - pathogenic (recessive) g.1397492G>A g.1397493G>A - - GAMT_012049 - PubMed: Cheillan 2012 - - Germline - - - - - Gajja Salomons
+/+ 1 6 c.578A>G r.(?) p.(Gln193Arg) - pathogenic (recessive) g.1397491T>C g.1397492T>C - - GAMT_012047 - PubMed: Akiyama 2013 - - Germline - - - - - Gajja Salomons
-?/. 1 - c.581T>C r.(?) p.(Val194Ala) - likely benign g.1397488A>G g.1397489A>G GAMT(NM_000156.6):c.581T>C (p.V194A) - NDUFS7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 5 6 c.590T>C r.(?) p.(Leu197Pro), p.Leu197Pro - NA, pathogenic (recessive) g.1397479A>G g.1397480A>G - - GAMT_012024 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation, PubMed: Leuzzi 2006 - - Germline, In vitro (cloned) - - - - - Gajja Salomons
+?/. 1 6 c.609dup r.(?) p.(Arg204Glufs*63) - likely pathogenic g.1397461dup g.1397462dup - - GAMT_012060 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/+ 5 6 c.623G>C r.(?) p.(Arg208Pro), p.Arg208Pro - NA, pathogenic (recessive) g.1397446C>G g.1397447C>G - - GAMT_012008 overexpression in primary GAMT deficient fibroblasts does not restore GAMT activity Mahmutoglu et al, in preparation - - Germline, In vitro (cloned) - - - - - Gajja Salomons
-/. 1 - c.626C>T r.(?) p.(Thr209Met) - benign g.1397443G>A g.1397444G>A GAMT(NM_000156.5):c.626C>T (p.T209M) - GAMT_012061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.642G>A r.(?) p.(Leu214=) - likely benign g.1397427C>T g.1397428C>T GAMT(NM_000156.5):c.642G>A (p.L214=), GAMT(NM_000156.6):c.642G>A (p.L214=) - NDUFS7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.707G>C r.(?) p.(Gly236Ala) - likely benign g.1397362C>G - GAMT(NM_000156.5):c.707G>C (p.G236A) - NDUFS7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*1855G>A r.(=) p.(=) - VUS g.1395503C>T g.1395504C>T NDUFS7(NM_024407.5):c.*16C>T - NDUFS7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.*1868_*1870dup r.(=) p.(=) - benign g.1395505_1395507dup g.1395506_1395508dup NDUFS7(NM_024407.4):c.642_*1insCGC, NDUFS7(NM_024407.5):c.642_*1insCGC - NDUFS7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
Legend   How to query