Full data view for gene NAGS

Information The variants shown are described using the NM_153006.2 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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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     

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Age at death     

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?/. _1_7_ c.-88445_*167307dup r.? p.? Unknown - VUS g.41993587_42253276dup g.43916219_44175908dup - - ASB16_000001 array 41993587–42253276x3 - - - Unknown - - - 0 - DNA arrayCNV - - MFDGA;MFDM - PubMed: Lines 2012 - F no ? (unknown) - - 0 - - 1 Johan den Dunnen
+/. 1 c.-3064C>A r.(=) p.(=) Unknown - NA g.42078968C>A g.44001600C>A c.-3064C>A - NAGS_000019 functional assays demonstrate that this variant decreases both transcription and binding of HNF-1, a known NAGS transcription factor, to the NAGS gene; not in 1086 controls - - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.55C>T r.(?) p.(Leu19Leu ) Parent #1 - benign g.42082086C>T g.44004718C>T - - NAGS_000002 - PubMed: Mitchell 2009 - - Germline - 0.005 - 0 - DNA SEQ, SSCA - - Healthy/Control - PubMed: Mitchell 2009 analysis 47 normal individuals - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.182A>G r.(?) p.(Glu61Gly) Unknown - benign g.42082213A>G g.44004845A>G NAGS(NM_153006.2):c.182A>G (p.E61G) - NAGS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.278del r.(?) p.(Pro93Glnfs*18) Parent #1 - pathogenic (recessive) g.42082309del g.44004941del - - NAGS_000021 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA DSCA, SEQ - - NAGSD Fam1a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - Switzerland - - 0 - - 1 Johannes Häberle
-/. 1 c.374C>A r.(?) p.(Thr125Lys) Parent #1 - benign g.42082405C>A g.44005037C>A - - NAGS_000001 - PubMed: Mitchell 2009 - - Germline - 0.01 - 0 - DNA SEQ, SSCA - - Healthy/Control - PubMed: Mitchell 2009 analysis 47 normal individuals - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.426+19G>A r.(=) p.(=) Unknown - benign g.42082476G>A g.44005108G>A NAGS(NM_153006.2):c.426+19G>A - NAGS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.499A>G r.(?) p.(Met167Val) Unknown - VUS g.42083077A>G g.44005709A>G - - NAGS_000020 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA DSCA, SEQ - - NAGSD Fam1a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - Switzerland - - 0 - - 1 Johannes Häberle
+/. 2 c.518T>A r.(?) p.(Val173Glu) Parent #1 - pathogenic g.42083096T>A g.44005728T>A - - NAGS_000022 - PubMed: Caldovic 2005 - - Germline - - - 0 - DNA SEQ - - NAGSD pat3 PubMed: Caldovic 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - 33y 0 - - 1 Johannes Häberle
+/. - c.545del r.(?) p.(Ala182Valfs*23) Both (homozygous) - pathogenic (recessive) g.42083123del g.44005755del 545delC - NAGS_000042 - PubMed: Häberle and Koch, 2004 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam2 PubMed: Häberle and Koch, 2004 - ? - Turkey - 00y00m01d 0 - - 1 Johannes Häberle
+/. 2 c.545del r.(?) p.(Ala182Valfs*23) Both (homozygous) - pathogenic (recessive) g.42083123del g.44005755del - - NAGS_000042 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - ? - ? (unknown) - 00y00m03d 0 - - 1 Johannes Häberle
-?/. - c.572A>G r.(?) p.(Glu191Gly) Unknown - likely benign g.42083150A>G g.44005782A>G NAGS(NM_153006.2):c.572A>G (p.(Glu191Gly)) - NAGS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.598T>C r.(?) p.(Cys200Arg) Both (homozygous) - VUS g.42083176T>C g.44005808T>C - - NAGS_000024 - PubMed: Schmidt 2005 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam1 PubMed: Schmidt 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France - - 0 - - 1 Johannes Häberle
?/. 2 c.598T>C r.(?) p.(Cys200Arg) Both (homozygous) - VUS g.42083176T>C g.44005808T>C - - NAGS_000024 - PubMed: Schmidt 2005 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam1 PubMed: Schmidt 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France - - 0 - - 1 Johannes Häberle
?/. 3 c.706G>T r.(?) p.(Gly236Cys) Both (homozygous) - VUS g.42083396G>T g.44006028G>T - - NAGS_000043 - PubMed: Caldovic 2007 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovic 2007 - - - United States - - 0 - - 1 Johannes Häberle
?/. 3 c.779C>T r.(?) p.(Pro260Leu) Both (homozygous) - VUS g.42083469C>T g.44006101C>T - - NAGS_000044 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam5a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
?/. 3 c.791C>T r.(?) p.(Thr264Met) Both (homozygous) - VUS g.42083481C>T g.44006113C>T - - NAGS_000045 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam6a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
?/. 3 c.835G>A r.(?) p.(Ala279Thr) Both (homozygous) - VUS g.42083525G>A g.44006157G>A - - NAGS_000013 - PubMed: Häberle 2003, PubMed: Plecko 1998 - - Germline - - - 0 - DNA SEQ - - NAGSD - PubMed: Häberle 2003, PubMed: Plecko 1998 - - - - - - 0 - - 1 Johannes Häberle
?/. 3 c.872T>A r.(?) p.(Ile291Asn) Both (homozygous) - VUS g.42083562T>A g.44006194T>A - - NAGS_000030 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam8a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 2-generation family, 4 affected, unaffected heterozygous carrier parents - - - - - 0 - - 4 Johannes Häberle
-?/. - c.915+29C>T r.(=) p.(=) Unknown - likely benign g.42083634C>T g.44006266C>T NAGS(NM_153006.2):c.915+29C>T - NAGS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3i c.916-57C>T r.(?) p.(=) Parent #1 - benign g.42083840C>T g.44006472C>T - - NAGS_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Mitchell 2009 - rs228770 Germline - 0.01 - 0 - DNA SEQ, SSCA - - Healthy/Control - PubMed: Mitchell 2009 analysis 47 normal individuals - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.916-2A>T r.spl p.? Parent #1 - pathogenic (recessive) g.42083895A>T g.44006527A>T - - NAGS_000011 - PubMed: Häberle 2003, PubMed: Häberle 2003 - - Germline - - - 0 - DNA SEQ - - NAGSD - PubMed: Häberle 2003, PubMed: Häberle 2003 - ? - ? (unknown) - 00y00m06d 0 - - 1 Johannes Häberle
?/. 4 c.935T>C r.(?) p.(Leu312Pro) Unknown - VUS g.42083916T>C g.44006548T>C - - NAGS_000031 - PubMed: Caldovic 2007 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovic 2007 - - - United States - - 0 - - 1 Johannes Häberle
+/. - c.971G>A r.(?) p.(Trp324*) Both (homozygous) - pathogenic (recessive) g.42083952G>A g.44006584G>A W324X - NAGS_000010 - PubMed: Häberle and Koch 2004 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam1 PubMed: Häberle and Koch 2004 prenatal diagnosis, fetus affected - - Faroe Islands - - 0 - - 1 Johan den Dunnen
+/. 4 c.971G>A r.(?) p.(Trp324*) Both (homozygous) - pathogenic (recessive) g.42083952G>A g.44006584G>A - - NAGS_000010 - PubMed: Caldovich 2003, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovich 2003, OMIM:var0002 2-generation family, 2 affected - - - - - 0 - - 2 Johannes Häberle
+/. 4 c.971G>A r.(?) p.(Trp324*) Both (homozygous) - pathogenic (recessive) g.42083952G>A g.44006584G>A - - NAGS_000010 - PubMed: Haberle 2003, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Haberle 2003, OMIM:var0002 - - - - - - 0 - - 1 Johannes Häberle
+/. 4 c.991C>T r.(?) p.(Gln331*) Both (homozygous) - pathogenic (recessive) g.42083972C>T g.44006604C>T - - NAGS_000032 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam35b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 2-generation family, 2 affected ? - ? (unknown) - 00y00m07d 0 - - 2 Johannes Häberle
+/. 4 c.1025del r.(?) p.(Arg342Profs*50) Both (homozygous) - pathogenic (recessive) g.42084006del g.44006638del 1025delG - NAGS_000009 - PubMed: Caldovich 2003, OMIM:var0001 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovich 2003, OMIM:var0001 2-generation family, 2 affected - - - - - 0 - - 2 Johannes Häberle
+/. 4 c.1036dup r.(?) p.(His346Profs*10) Both (homozygous) - pathogenic g.42084017dup g.44006649dup 1036insC - NAGS_000033 - PubMed: Elpeleg 2002 - - Germline - - - 0 - DNA SEQ - - NAGSD - PubMed: Elpeleg 2002 2-generation family, affected twin brotehs, unaffected heterozygous carrier parents M yes Iran Jewish - 0 - - 2 Johannes Häberle
?/. 4 c.1048G>A r.(?) p.(Val350Ile) Unknown - VUS g.42084029G>A g.44006661G>A 1050G>A (V350I) - NAGS_000034 - PubMed: Caldovic 2007 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovic 2007 - - - United States - - 0 - - 1 Johannes Häberle
-/. - c.1086T>C r.(?) p.(Phe362=) Unknown - benign g.42084067T>C g.44006699T>C NAGS(NM_153006.2):c.1086T>C (p.F362=) - NAGS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1086T>C r.(?) p.(Phe362=) Unknown - benign g.42084067T>C g.44006699T>C NAGS(NM_153006.2):c.1086T>C (p.F362=) - NAGS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.1086T>C r.(?) p.(=) Parent #1 - benign g.42084067T>C g.44006699T>C Phe362Phe - NAGS_000004 - PubMed: Mitchell 2009 - - Germline - 0.005 - 0 - DNA SEQ, SSCA - - Healthy/Control - PubMed: Mitchell 2009 analysis 47 normal individuals - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.1096+20C>G r.(=) p.(=) Unknown - benign g.42084097C>G g.44006729C>G NAGS(NM_153006.2):c.1096+20C>G, NAGS(NM_153006.3):c.1096+20C>G - NAGS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1096+20C>G r.(=) p.(=) Unknown - benign g.42084097C>G g.44006729C>G NAGS(NM_153006.2):c.1096+20C>G, NAGS(NM_153006.3):c.1096+20C>G - NAGS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1096+20C>G r.(=) p.(=) Unknown - benign g.42084097C>G g.44006729C>G NAGS(NM_153006.2):c.1096+20C>G, NAGS(NM_153006.3):c.1096+20C>G - NAGS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4i c.1096+20C>G r.(?) p.(=) Parent #1 - benign g.42084097C>G g.44006729C>G - - NAGS_000005 - PubMed: Mitchell 2009 - rs228771 Germline - 0.44 - 0 - DNA SEQ, SSCA - - Healthy/Control - PubMed: Mitchell 2009 analysis 47 normal individuals - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.1097-1G>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.42084690G>C g.44007322G>C - - NAGS_000035 - PubMed: Caldovic 2005 - - Germline yes - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovic 2005 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States - - 0 - - 2 Johannes Häberle
?/. 5 c.1172T>G r.(?) p.(Leu391Arg) Unknown - VUS g.42084766T>G g.44007398T>G - - NAGS_000036 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam11a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
?/. 5 c.1192A>T r.(?) p.(Ser398Cys) Unknown - VUS g.42084786A>T g.44007418A>T - - NAGS_000037 no variant 2n allele found PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam12a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
+/. 5 c.1228T>C r.(?) p.(Ser410Pro) Both (homozygous) - pathogenic g.42084822T>C g.44007454T>C - - NAGS_000038 - PubMed: Schmidt 2005 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam2 PubMed: Schmidt 2005 2-generation family, 2 affected, unaffected heterozygous carrier parents ? - Algeria - - 0 - - 2 Johannes Häberle
+/. 5 c.1228T>C r.(?) p.(Ser410Pro) Both (homozygous) - pathogenic (recessive) g.42084822T>C g.44007454T>C - - NAGS_000038 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam14a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - ? - ? (unknown) - 00y00m20d 0 - - 1 Johannes Häberle
+/. 5 c.1241G>C r.(?) p.(Arg414Pro) Both (homozygous) - pathogenic g.42084835G>C g.44007467G>C - - NAGS_000039 - PubMed: Nordenstrom 2007 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Nordenstrom 2007 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents ? - Sweden - - 0 - - 2 Johannes Häberle
+/. 5 c.1264G>T r.(?) p.(Glu422*) Both (homozygous) - pathogenic (recessive) g.42084858G>T g.44007490G>T - - NAGS_000040 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam38b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 no clinical information ? - ? (unknown) - - 0 - - 1 Johannes Häberle
+/. 6 c.1289T>C r.(?) p.(Leu430Pro) Both (homozygous) - pathogenic (recessive) g.42084979T>C g.44007611T>C - - NAGS_000014 5% residual enzyme activity PubMed: Haberle 2003, PubMed: Caldovic 2007, OMIM:var0006 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Haberle 2003, PubMed: Caldovic 2007, OMIM:var0006 - - - - - - 0 - - 1 Johannes Häberle
+/. 6 c.1289T>C r.(?) p.(Leu430Pro) Both (homozygous) - pathogenic (recessive) g.42084979T>C g.44007611T>C - - NAGS_000014 5% residual enzyme activity PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam17a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
+/. 6 c.1292C>T r.(?) p.(Thr431Ile) Parent #2 - pathogenic g.42084982C>T g.44007614C>T - - NAGS_000023 - PubMed: Caldovic 2005 - - Germline - - - 0 - DNA SEQ - - NAGSD pat3 PubMed: Caldovic 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - 33y 0 - - 1 Johannes Häberle
?/. 6 c.1292C>T r.(?) p.(Thr431Ile) Unknown - VUS g.42084982C>T g.44007614C>T - - NAGS_000023 - PubMed: Caldovic 2007 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovic 2007 - - - United States - - 0 - - 1 Johannes Häberle
+/. 6 c.1299G>C r.(?) p.(Glu433Asp) Both (homozygous) - pathogenic (recessive) g.42084989G>C g.44007621G>C - - NAGS_000016 corrected from Glu433Ser PubMed: Haberle 2003, PubMed: Caldovic 2007, OMIM:var0008 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Haberle 2003, PubMed: Caldovic 2007, OMIM:var0008 - - - - - - 0 - - 1 Johannes Häberle
+/. 6 c.1307dup r.(?) p.(Thr439Hisfs*52) Parent #2 - pathogenic (recessive) g.42084997dup g.44007629dup - - NAGS_000041 - PubMed: Häberle 2003, PubMed: Häberle 2003 - - Germline - - - 0 - DNA SEQ - - NAGSD - PubMed: Häberle 2003, PubMed: Häberle 2003 - ? - ? (unknown) - 00y00m06d 0 - - 1 Johannes Häberle
+/. - c.1313del r.(?) p.(Gly438Alafs*10) Both (homozygous) - pathogenic (recessive) g.42085003del g.44007635del 1313delG - NAGS_000051 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam40b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 2-generation family, 2 affected - - - - - 0 - - 2 Johan den Dunnen
+/. - c.1313del r.(?) p.(Gly438Alafs*10) Unknown - pathogenic g.42085003del - NAGS(NM_153006.2):c.1313delG (p.G438Afs*10) - NAGS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1313dup r.(?) p.(Thr439Hisfs*52) Both (homozygous) - pathogenic (recessive) g.42085003dup g.44007635dup - - NAGS_000050 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam39b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johan den Dunnen
?/. 6 c.1324C>G r.(?) p.(Leu442Val) Unknown - VUS g.42085014C>G g.44007646C>G - - NAGS_000026 - PubMed: Caldovic 2007 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovic 2007 - - - United States - - 0 - - 1 Johannes Häberle
+?/. 6 c.1370G>A r.(?) p.(Gly457Asp) Both (homozygous) - likely pathogenic g.42085060G>A g.44007692G>A - - NAGS_000027 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam19a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - ? - ? (unknown) - 00y00m05d 0 - - 1 Johannes Häberle
-/. - c.1446T>C r.(?) p.(Asn482=) Unknown - benign g.42085136T>C g.44007768T>C NAGS(NM_153006.2):c.1446T>C (p.N482=) - NAGS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.1450T>C r.(?) p.(Trp484Arg) Unknown - VUS g.42085140T>C g.44007772T>C - - NAGS_000015 - PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam11a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
+/. 6 c.1450T>C r.(?) p.(Trp484Arg) Both (homozygous) - pathogenic (recessive) g.42085140T>C g.44007772T>C - - NAGS_000015 5% residual enzyme activity PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam20a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 2-generation family, 3 affected - - - - - 0 - - 3 Johannes Häberle
+/. 6 c.1450T>C r.(?) p.(Trp484Arg) Both (homozygous) - pathogenic (recessive) g.42085140T>C g.44007772T>C - - NAGS_000015 5% residual enzyme activity PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam21a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
+/. 6 c.1450T>C r.(?) p.(Trp484Arg) Both (homozygous) - pathogenic (recessive) g.42085140T>C g.44007772T>C - - NAGS_000015 5% residual enzyme activity PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam22a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
+/. 6 c.1450T>C r.(?) p.(Trp484Arg) Both (homozygous) - pathogenic (recessive) g.42085140T>C g.44007772T>C - - NAGS_000015 5% residual enzyme activity PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam23a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
+/. 6 c.1450T>C r.(?) p.(Trp484Arg) Both (homozygous) - pathogenic (recessive) g.42085140T>C g.44007772T>C - - NAGS_000015 5% residual enzyme activity PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SEQ - - NAGSD Fam24a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johannes Häberle
+/. 6 c.1450T>C r.(?) p.(Trp484Arg) Both (homozygous) - pathogenic (recessive) g.42085140T>C g.44007772T>C - - NAGS_000015 5% residual enzyme activity PubMed: Van Leynseele 2014 - - Unknown - - - 0 - DNA SEQ - - NAGSD - PubMed: Van Leynseele 2014 - - - Belgium - - 0 - - 1 Johannes Häberle
-/. - c.1451+9T>C r.(=) p.(=) Unknown - benign g.42085150T>C g.44007782T>C NAGS(NM_153006.2):c.1451+9T>C - NAGS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1451+9T>C r.(=) p.(=) Unknown - benign g.42085150T>C g.44007782T>C NAGS(NM_153006.2):c.1451+9T>C - NAGS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 6i c.1451+9T>C r.(?) p.(=) Parent #1 - benign g.42085150T>C g.44007782T>C - - NAGS_000007 - PubMed: Mitchell 2009 - rs228773 Germline - 0.036 - 0 - DNA SEQ, SSCA - - Healthy/Control - PubMed: Mitchell 2009 analysis 47 normal individuals - - United States - - 0 - - 1 Johan den Dunnen
-/. 6i c.1451+10G>A r.(?) p.(=) Parent #1 - benign g.42085151G>A g.44007783G>A - - NAGS_000006 - PubMed: Mitchell 2009 - - Germline - 0.09 - 0 - DNA SEQ, SSCA - - Healthy/Control - PubMed: Mitchell 2009 analysis 47 normal individuals - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1494G>A r.(?) p.(Trp498Ter) Unknown - pathogenic g.42085858G>A g.44008490G>A - - NAGS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1494G>A r.1494g>a p.Trp498* Paternal (confirmed) - pathogenic (recessive) g.42085858G>A g.44008490G>A - - NAGS_000049 no variant 2nd allele identified PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - NAGSD Fam41b PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 7 c.1526G>A r.(?) p.(Arg509Gln) Paternal (confirmed) - pathogenic (recessive) g.42085890G>A g.44008522G>A - - NAGS_000028 - PubMed: Caldovic 2005 - - Germline yes - - 0 - DNA SEQ - - NAGSD - PubMed: Caldovic 2005 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - United States - - 0 - - 2 Johannes Häberle
?/. - c.1526G>A r.(?) p.(Arg509Gln) Unknown - VUS g.42085890G>A - NAGS(NM_153006.2):c.1526G>A (p.R509Q) - NAGS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.1535A>G r.(?) p.(Tyr512Cys) Parent #1 - likely pathogenic g.42085899A>G g.44008531A>G - - NAGS_000029 no variant 2nd allele found PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - - Unknown - - - 0 - DNA SBE - - NAGSD Fam27a PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016 - ? - ? (unknown) - - 0 - - 1 Johannes Häberle
+/. 7 c.1552G>A r.(?) p.(Ala518Thr) Both (homozygous) - pathogenic (recessive) g.42085916G>A g.44008548G>A - - NAGS_000025 - PubMed: Schmidt 2005 - - Germline - - - 0 - DNA SEQ - - NAGSD - PubMed: Schmidt 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents ? - Turkey - - 0 - - 1 Johannes Häberle
+/. 7 c.1552G>A r.(?) p.(Ala518Thr) Both (homozygous) - pathogenic (recessive) g.42085916G>A g.44008548G>A - - NAGS_000025 - PubMed: Schmidt 2005 - - Germline - - - 0 - DNA SEQ - - NAGSD Fam5 PubMed: Schmidt 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents ? - Turkey - - 0 - - 1 Johannes Häberle
-/. - c.*3C>T r.(=) p.(=) Unknown - benign g.42085972C>T g.44008604C>T NAGS(NM_153006.2):c.*3C>T, NAGS(NM_153006.3):c.*3C>T - NAGS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*3C>T r.(=) p.(=) Unknown - benign g.42085972C>T g.44008604C>T NAGS(NM_153006.2):c.*3C>T, NAGS(NM_153006.3):c.*3C>T - NAGS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*3C>T r.(=) p.(=) Unknown - benign g.42085972C>T g.44008604C>T NAGS(NM_153006.2):c.*3C>T, NAGS(NM_153006.3):c.*3C>T - NAGS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 7 c.*3C>T r.(?) p.(=) Parent #1 - benign g.42085972C>T g.44008604C>T - - NAGS_000008 - PubMed: Mitchell 2009 - rs186636 Germline - 0.25 - 0 - DNA SEQ, SSCA - - Healthy/Control - PubMed: Mitchell 2009 analysis 47 normal individuals - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.*3415C>T r.(=) p.(=) Unknown - VUS g.42089384C>T g.44012016C>T TMEM101(NM_032376.4):c.686G>A (p.R229Q) - TMEM101_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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