Full data view for gene GATM

Information The variants shown are described using the NM_001482.2 transcript reference sequence.

110 entries on 2 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.68G>A r.(?) p.(Arg23Gln) Parent #1 - benign g.45670584C>T g.45378386C>T - - GATM_009034 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 1 c.68G>A r.(?) p.(Arg23Gln) Parent #2 - benign g.45670584C>T g.45378386C>T - - GATM_009034 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 1 c.68G>A r.(?) p.Arg23Gln Parent #1 - NA g.45670584C>T g.45378386C>T - - GATM_009034 overexpression studies showed 28,0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.69+13C>T r.(=) p.(=) Unknown - likely benign g.45670570G>A g.45378372G>A GATM(NM_001482.2):c.69+13C>T, GATM(NM_001482.3):c.69+13C>T - GATM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.69+13C>T r.(=) p.(=) Unknown - likely benign g.45670570G>A g.45378372G>A GATM(NM_001482.2):c.69+13C>T, GATM(NM_001482.3):c.69+13C>T - GATM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/-? 2 c.277A>G r.(?) p.(Ile93Val) Parent #1 - benign g.45668810T>C g.45376612T>C - - GATM_009035 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 2 c.277A>G r.(?) p.(Ile93Val) Parent #2 - benign g.45668810T>C g.45376612T>C - - GATM_009035 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 2 c.277A>G r.(?) p.Ile93Val Parent #2 - NA g.45668810T>C g.45376612T>C - - GATM_009035 overexpression studies showed 18,0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/-? 3 c.306G>C r.(?) p.(Lys102Asn) Parent #1 - benign g.45661702C>G g.45369504C>G - - GATM_009036 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 3 c.306G>C r.(?) p.(Lys102Asn) Parent #2 - benign g.45661702C>G g.45369504C>G - - GATM_009036 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 3 c.306G>C r.(?) p.Lys102Asn Parent #2 - NA g.45661702C>G g.45369504C>G - - GATM_009036 overexpression studies showed 37,0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 3 c.314C>T r.(?) p.(Pro105Leu) Parent #1 - pathogenic (recessive) g.45661694G>A g.45369496G>A - - GATM_009045 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 3 c.314C>T r.(?) p.(Pro105Leu) Parent #2 - pathogenic (recessive) g.45661694G>A g.45369496G>A - - GATM_009045 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 3 c.314C>T r.(?) p.Pro105Leu Parent #1 - NA g.45661694G>A g.45369496G>A - - GATM_009045 overexpression studies showed 0,60% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.330A>T r.(?) p.(Gln110His) Unknown - benign g.45661678T>A g.45369480T>A GATM(NM_001482.2):c.330A>T (p.Q110H), GATM(NM_001482.3):c.330A>T (p.Q110H) - GATM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.330A>T r.(?) p.(Gln110His) Unknown - benign g.45661678T>A g.45369480T>A GATM(NM_001482.2):c.330A>T (p.Q110H), GATM(NM_001482.3):c.330A>T (p.Q110H) - GATM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/-? 3 c.407C>T r.(?) p.(Thr136Met) Parent #1 - benign g.45661601G>A g.45369403G>A - - GATM_009037 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 3 c.407C>T r.(?) p.(Thr136Met) Parent #2 - benign g.45661601G>A g.45369403G>A - - GATM_009037 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 3 c.407C>T r.(?) p.Thr136Met Parent #2 - NA g.45661601G>A g.45369403G>A - - GATM_009037 overexpression studies showed 100% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>A r.(?) p.(Thr136=) Unknown - likely benign g.45661600C>T g.45369402C>T GATM(NM_001321015.1):c.21G>A (p.T7=) - GATM_009053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.446G>A r.(?) p.(Trp149*) Parent #1 - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Bianchi 2000, PubMed: Item 2001 - F - - - - 0 - - 1 Gajja Salomons
+/+ 3 c.446G>A r.(?) p.(Trp149*) Parent #2 - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Bianchi 2000, PubMed: Item 2001 - F - - - - 0 - - 1 Gajja Salomons
+/+ 3 c.446G>A r.(?) p.(Trp149*) Parent #1 - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Bianchi 2000, PubMed: Item 2001 - F - - - - 0 - - 1 Gajja Salomons
+/+ 3 c.446G>A r.(?) p.(Trp149*) Parent #2 - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Bianchi 2000, PubMed: Item 2001 - F - - - - 0 - - 1 Gajja Salomons
+/+ 3 c.446G>A r.(?) p.(Trp149*) Parent #1 - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Battini 2006 - M - - - - 0 - - 1 Gajja Salomons
+/+ 3 c.446G>A r.(?) p.(Trp149*) Parent #2 - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Battini 2006 - M - - - - 0 - - 1 Gajja Salomons
+/+ 3 c.446G>A r.(?) p.(Trp149*) Parent #1 - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Batinni 2002 - M - - - - 0 - - 1 Gajja Salomons
+/+ 3 c.446G>A r.(?) p.(Trp149*) Parent #2 - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Batinni 2002 - M - - - - 0 - - 1 Gajja Salomons
+/+ 3i c.484+1G>T r.289_484del p.Ala97Valfs*11 Both (homozygous) - pathogenic (recessive) g.45661523C>A g.45369325C>A IVS3+1G>T - GATM_009002 pathogenic, erroneous splicing was demonstrated PubMed: Ndika 2012, Journal: Salomons 2005 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - Journal: Salomons 2005, Ndika et al in press - F - - - - 0 - - 1 Gajja Salomons
+/+ 3i c.484+1G>T r.289_484del p.Ala97Valfs*11 Parent #1 - pathogenic (recessive) g.45661523C>A g.45369325C>A IVS3+1G>T - GATM_009002 pathogenic, erroneous splicing was demonstrated PubMed: Ndika 2012, Journal: Salomons 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Journal: Salomons 2005, Ndika et al in press - F - - - - 0 - - 1 Gajja Salomons
+/+ 3i c.484+1G>T r.289_484del p.Ala97Valfs*11 Parent #1 - pathogenic (recessive) g.45661523C>A g.45369325C>A IVS3+1G>T - GATM_009002 pathogenic, erroneous splicing was demonstrated PubMed: Ndika 2012, Journal: Salomons 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - Journal: Salomons 2005, Ndika et al in press - M - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.505C>T r.(?) p.(Arg169*) Parent #1 - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Verma 2010 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.505C>T r.(?) p.(Arg169*) Parent #2 - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Verma 2010 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.505C>T r.(?) p.(Arg169*) Parent #1 - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Verma 2010 - M - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.505C>T r.(?) p.(Arg169*) Parent #2 - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Verma 2010 - M - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.505C>T r.(?) p.(Arg169*) Parent #1 - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Comeaux 2013 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.505C>T r.(?) p.(Arg169*) Parent #2 - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Comeaux 2013 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.505C>T r.(?) p.(Arg169*) Parent #1 - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Comeaux 2013 - M - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.505C>T r.(?) p.(Arg169*) Parent #2 - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Comeaux 2013 - M - - - - 0 - - 1 Gajja Salomons
+/+? 4 c.541G>A r.(?) p.(Glu181Lys) Parent #1 - pathogenic (recessive) g.45660402C>T g.45368204C>T - - GATM_009046 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 4 c.541G>A r.(?) p.(Glu181Lys) Parent #2 - pathogenic (recessive) g.45660402C>T g.45368204C>T - - GATM_009046 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 4 c.541G>A r.(?) p.Glu181Lys Parent #2 - NA g.45660402C>T g.45368204C>T - - GATM_009046 overexpression studies showed 0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 4 c.553G>C r.(?) p.(Ala185Pro) Parent #1 - pathogenic (recessive) g.45660390C>G g.45368192C>G - - GATM_009033 variant reported in Exome Variant Server PubMed: Stockler-Ipsiroglu 2015, PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Stockler-Ipsiroglu 2015, PubMed: DesRoches 2016 patient 16 M - - - - 0 - - 1 Rahma MANI
+/+? 4 c.553G>C r.(?) p.(Ala185Pro) Parent #2 - pathogenic (recessive) g.45660390C>G g.45368192C>G - - GATM_009033 variant reported in Exome Variant Server PubMed: Stockler-Ipsiroglu 2015, PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Stockler-Ipsiroglu 2015, PubMed: DesRoches 2016 patient 16 M - - - - 0 - - 1 Rahma MANI
+/+? 4 c.553G>C r.(?) p.Ala185Pro Parent #2 - NA g.45660390C>G g.45368192C>G - - GATM_009033 overexpression studies showed 2,2% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 4 c.565C>T r.(?) p.(Arg189Cys) Parent #1 - pathogenic (recessive) g.45660378G>A g.45368180G>A - - GATM_009047 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 4 c.565C>T r.(?) p.(Arg189Cys) Parent #2 - pathogenic (recessive) g.45660378G>A g.45368180G>A - - GATM_009047 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 4 c.565C>T r.(?) p.Arg189Cys Parent #1 - NA g.45660378G>A g.45368180G>A - - GATM_009047 overexpression studies showed 0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #1 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 variant reported in Exome Variant Server PubMed: Nouioua 2013, PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013, PubMed: DesRoches 2016 patient xx F - - - - 0 - - 1 Rahma MANI
+/+? 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #2 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 variant reported in Exome Variant Server PubMed: Nouioua 2013, PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013, PubMed: DesRoches 2016 patient xx F - - - - 0 - - 1 Rahma MANI
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #1 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013 - F - France - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #2 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013 - F - France - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #1 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013 - F - France - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #2 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013 - F - France - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #1 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #2 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #1 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #2 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Nouioua 2013 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #1 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Nouioua 2013 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.608A>C r.(?) p.(Tyr203Ser) Parent #1 - pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 - PubMed: Nouioua 2013 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Nouioua 2013 - M - - - - 0 - - 1 Gajja Salomons
+/+? 4 c.608A>C r.(?) p.Tyr203Ser Parent #1 - NA g.45660335T>G g.45368137T>G - - GATM_009009 overexpression studies showed 0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 4 c.622G>A r.(?) p.(Ala208Thr) Parent #1 - pathogenic (recessive) g.45660321C>T g.45368123C>T - - GATM_009048 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 4 c.622G>A r.(?) p.(Ala208Thr) Parent #2 - pathogenic (recessive) g.45660321C>T g.45368123C>T - - GATM_009048 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 4 c.622G>A r.(?) p.Ala208Thr Parent #2 - NA g.45660321C>T g.45368123C>T - - GATM_009048 overexpression studies showed 0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.629G>A r.(?) p.(Trp210*) Parent #1 - pathogenic (recessive) g.45660314C>T g.45368116C>T - - GATM_009029 - PubMed: Stockler 2015 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Stockler 2015 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.629G>A r.(?) p.(Trp210*) Parent #2 - pathogenic (recessive) g.45660314C>T g.45368116C>T - - GATM_009029 - PubMed: Stockler 2015 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Stockler 2015 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.629G>A r.(?) p.(Trp210*) Parent #1 - pathogenic (recessive) g.45660314C>T g.45368116C>T - - GATM_009029 - PubMed: Stockler 2015 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Stockler 2015 - M - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.629G>A r.(?) p.(Trp210*) Parent #2 - pathogenic (recessive) g.45660314C>T g.45368116C>T - - GATM_009029 - PubMed: Stockler 2015 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Stockler 2015 - M - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.629G>A r.(?) p.(Trp210*) Parent #1 - pathogenic (recessive) g.45660314C>T g.45368116C>T - - GATM_009029 - PubMed: Stockler 2015 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Stockler 2015 - F - - - - 0 - - 1 Gajja Salomons
+/+ 4 c.629G>A r.(?) p.(Trp210*) Parent #2 - pathogenic (recessive) g.45660314C>T g.45368116C>T - - GATM_009029 - PubMed: Stockler 2015 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Stockler 2015 - F - - - - 0 - - 1 Gajja Salomons
-/-? 4 c.655G>A r.(?) p.(Ala219Thr) Parent #1 - benign g.45660288C>T g.45368090C>T - - GATM_009038 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 4 c.655G>A r.(?) p.(Ala219Thr) Parent #2 - benign g.45660288C>T g.45368090C>T - - GATM_009038 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 4 c.655G>A r.(?) p.Ala219Thr Parent #2 - NA g.45660288C>T g.45368090C>T - - GATM_009038 overexpression studies showed 63% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.669T>C r.(?) p.(Tyr223=) Unknown - likely benign g.45660274A>G g.45368076A>G GATM(NM_001321015.1):c.282T>C (p.Y94=) - GATM_009052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 5 c.692C>G r.(?) p.(Ser231Cys) Parent #1 - benign g.45658690G>C g.45366492G>C - - GATM_009039 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 5 c.692C>G r.(?) p.(Ser231Cys) Parent #2 - benign g.45658690G>C g.45366492G>C - - GATM_009039 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 5 c.692C>G r.(?) p.Ser231Cys Parent #1 - NA g.45658690G>C g.45366492G>C - - GATM_009039 overexpression studies showed 100% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/-? 5 c.701A>G r.(?) p.(Asp234Gly) Parent #1 - benign g.45658681T>C g.45366483T>C - - GATM_009040 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 5 c.701A>G r.(?) p.(Asp234Gly) Parent #2 - benign g.45658681T>C g.45366483T>C - - GATM_009040 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
-/-? 5 c.701A>G r.(?) p.Asp234Gly Parent #2 - NA g.45658681T>C g.45366483T>C - - GATM_009040 overexpression studies showed 82% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.722A>G r.(?) p.(Gln241Arg) Unknown - VUS g.45658660T>C - GATM(NM_001321015.1):c.335A>G (p.Q112R) - GATM_009054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 6 c.845G>A r.(?) p.(Arg282His) Parent #1 - pathogenic (recessive) g.45658377C>T g.45366179C>T - - GATM_009042 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 6 c.845G>A r.(?) p.(Arg282His) Parent #2 - pathogenic (recessive) g.45658377C>T g.45366179C>T - - GATM_009042 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 6 c.845G>A r.(?) p.Arg282His Parent #1 - NA g.45658377C>T g.45366179C>T - - GATM_009042 overexpression studies showed 7,60% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.979-11dup r.(=) p.(=) Unknown - likely benign g.45657076dup g.45364878dup GATM(NM_001321015.1):c.592-11dupT - GATM_009050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 7 c.985C>G r.(?) p.(Leu329Val) Parent #1 - pathogenic (recessive) g.45657052G>C g.45364854G>C - - GATM_009043 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 7 c.985C>G r.(?) p.(Leu329Val) Parent #2 - pathogenic (recessive) g.45657052G>C g.45364854G>C - - GATM_009043 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 7 c.985C>G r.(?) p.Leu329Val Parent #1 - NA g.45657052G>C g.45364854G>C - - GATM_009043 overexpression studies showed 5,0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 7 c.1037C>T r.(?) p.(Pro346Leu) Parent #1 - pathogenic (recessive) g.45657000G>A g.45364802G>A - - GATM_009044 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 7 c.1037C>T r.(?) p.(Pro346Leu) Parent #2 - pathogenic (recessive) g.45657000G>A g.45364802G>A - - GATM_009044 variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016 - - - - - - 0 - - 1 Rahma MANI
+/+? 7 c.1037C>T r.(?) p.Pro346Leu Parent #2 - NA g.45657000G>A g.45364802G>A - - GATM_009044 overexpression studies showed 4,0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1111dup r.(?) p.(Met371Asnfs*6) Parent #1 - pathogenic (recessive) g.45656146dup g.45363948dup c.1111_1112insA - GATM_009004 - PubMed: Edvardson 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Edvardson 2010 - M - - - - 0 - - 1 Gajja Salomons
+/+ 8 c.1111dup r.(?) p.(Met371Asnfs*6) Parent #2 - pathogenic (recessive) g.45656146dup g.45363948dup c.1111_1112insA - GATM_009004 - PubMed: Edvardson 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Edvardson 2010 - M - - - - 0 - - 1 Gajja Salomons
+/+ 8 c.1111dup r.(?) p.(Met371Asnfs*6) Parent #1 - pathogenic (recessive) g.45656146dup g.45363948dup c.1111_1112insA - GATM_009004 - PubMed: Edvardson 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Edvardson 2010 - F - - - - 0 - - 1 Gajja Salomons
+/+ 8 c.1111dup r.(?) p.(Met371Asnfs*6) Parent #2 - pathogenic (recessive) g.45656146dup g.45363948dup c.1111_1112insA - GATM_009004 - PubMed: Edvardson 2010 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Edvardson 2010 - F - - - - 0 - - 1 Gajja Salomons
+/+ 9 c.1237C>T r.(?) p.(Arg413Trp) Parent #1 - pathogenic (recessive) g.45654342G>A g.45362144G>A p.R413W - GATM_009010 Patient A2 in Comeaux et al, 2013 PubMed: Comeaux 2013, PubMed: Stockler 2015 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: Comeaux 2013 - M - - - - 0 - - 1 Gajja Salomons
+/+? 9 c.1237C>T r.(?) p.(Arg413Trp) Parent #1 - pathogenic (recessive) g.45654342G>A g.45362144G>A - - GATM_009010 variant reported in Exome Variant Server PubMed: DesRoches 2016, PubMed: Comeaux 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016, PubMed: Comeaux 2013 patient xx M - - - - 0 - - 1 Rahma MANI
+/+? 9 c.1237C>T r.(?) p.(Arg413Trp) Parent #2 - pathogenic (recessive) g.45654342G>A g.45362144G>A - - GATM_009010 variant reported in Exome Variant Server PubMed: DesRoches 2016, PubMed: Comeaux 2013 - - Germline - - - 0 - DNA SEQ - - CCDS3;GATMD - PubMed: DesRoches 2016, PubMed: Comeaux 2013 patient xx M - - - - 0 - - 1 Rahma MANI
+/+? 9 c.1237C>T r.(?) p.Arg413Trp Parent #1 - NA g.45654342G>A g.45362144G>A - - GATM_009010 overexpression studies showed 0% AGAT activity PubMed: DesRoches 2016 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1238G>A r.(?) p.(Arg413Gln) Unknown - VUS g.45654341C>T g.45362143C>T GATM(NM_001482.2):c.1238G>A (p.R413Q) - GATM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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