Full data view for gene GARS

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_002047.2 transcript reference sequence.

105 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-7446888_*2258558del - r.0 p.0 Unknown g.23187650_32932034del - - - ADCYAP1R1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.-225G>A - r.(=) p.(=) Parent #1 g.30634313G>A g.30594697G>A - - GARS_000077 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-205C>T benign r.(?) p.(=) Unknown g.30634333C>T - - - GARS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.11C>T benign r.(?) p.(Pro4Leu) Unknown g.30634548C>T - GARS(NM_002047.4):c.11C>T (p.P4L) - GARS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.11C>T benign r.(?) p.(Pro4Leu) Unknown g.30634548C>T - GARS(NM_002047.4):c.11C>T (p.P4L) - GARS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.59_61del benign r.(?) p.(Leu20del) Unknown g.30634596_30634598del - GARS(NM_002047.2):c.59_61delTGC (p.L20del), GARS(NM_002047.4):c.59_61delTGC (p.L20del) - GARS_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59_61del likely benign r.(?) p.(Leu20del) Unknown g.30634596_30634598del - GARS(NM_002047.2):c.59_61delTGC (p.L20del), GARS(NM_002047.4):c.59_61delTGC (p.L20del) - GARS_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.93G>C - r.(=) p.(=) Parent #1 g.30634630G>C g.30595014G>C - - GARS_000012 - - - rs2529438 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.93G>C benign r.(?) p.(=) Unknown g.30634630G>C - GARS(NM_002047.4):c.93G>C (p.L31=) - GARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.93G>C benign r.(?) p.(=) Unknown g.30634630G>C - GARS(NM_002047.4):c.93G>C (p.L31=) - GARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.93G>C benign r.(?) p.(=) Unknown g.30634630G>C - - - GARS_000012 - PubMed: Abe 2009 - rs2529438 Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.124C>G benign r.(?) p.(Pro42Ala) Unknown g.30634661C>G - GARS(NM_002047.2):c.124C>G (p.P42A), GARS(NM_002047.4):c.124C>G (p.P42A) - GARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.124C>G benign r.(?) p.(Pro42Ala) Unknown g.30634661C>G - GARS(NM_002047.2):c.124C>G (p.P42A), GARS(NM_002047.4):c.124C>G (p.P42A) - GARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.124C>G benign r.(?) p.(Pro42Ala) Unknown g.30634661C>G - GARS(NM_002047.2):c.124C>G (p.P42A), GARS(NM_002047.4):c.124C>G (p.P42A) - GARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.124C>G benign r.(?) p.(Pro42Ala) Unknown g.30634661C>G - - - GARS_000013 - PubMed: Abe 2009 - rs1049402 Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.222+5C>T benign r.spl? p.? Unknown g.30634764C>T - GARS(NM_002047.4):c.222+5C>T - GARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.222+5C>T benign r.spl? p.? Unknown g.30634764C>T - GARS(NM_002047.4):c.222+5C>T - GARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.222+5C>T benign r.(?) p.(=) Unknown g.30634764C>T - - - GARS_000014 - PubMed: Abe 2009 - rs2072236 Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
-/. 2i c.222+94_222+96del benign r.(?) p.(=) Unknown g.30634853_30634855del - c.222+93_95delCCT - GARS_000015 - PubMed: Abe 2009 - rs2527878 Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
?/. - c.236G>A VUS r.(?) p.(Arg79Gln) Unknown g.30638425G>A - - - GARS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.253A>G VUS r.(?) p.(Lys85Glu) Unknown g.30638442A>G - GARS(NM_002047.2):c.253A>G (p.K85E), GARS(NM_002047.4):c.253A>G (p.K85E) - GARS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.253A>G VUS r.(?) p.(Lys85Glu) Unknown g.30638442A>G - GARS(NM_002047.2):c.253A>G (p.K85E), GARS(NM_002047.4):c.253A>G (p.K85E) - GARS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.332C>T pathogenic r.(?) p.(Ala111Val) Unknown g.30639570C>T - GARS(NM_002047.4):c.332C>T (p.A111V) - GARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.332C>T pathogenic r.(?) p.(Ala111Val) Parent #1 g.30639570C>T - 688C>T (A57V) - GARS_000010 - PubMed: Rohkamm 2007 - - Unknown - - - 0 - DNA SEQ - - HMN - PubMed: Rohkamm 2007 - - - Ghana - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G pathogenic r.(?) p.(Glu125Gly) Unknown g.30639612A>G - GARS(NM_002047.4):c.374A>G (p.E125G) - GARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.374A>G pathogenic (dominant) r.(?) p.(Glu125Gly) Parent #1 g.30639612A>G - 730A>G (E71G) - GARS_000011 not in 398 control chromosomes PubMed: Antonellis 2003, OMIM:var0003 - rs137852645 Germline - - - 0 - DNA SEQ - - HMN - PubMed: Sivakumar 2005 - - - Mongolia - - 0 - - 11 Johan den Dunnen
+/. 3 c.374A>G pathogenic (dominant) r.(?) p.(Glu125Gly) Parent #1 g.30639612A>G - 730A>G (E71G) - GARS_000011 not in 398 control chromosomes PubMed: Antonellis 2003, OMIM:var0003 - rs137852645 Germline - - - 0 - DNA SEQ - - CMT - PubMed: Sivakumar 2005 - - - Mongolia - - 0 - - 6 Johan den Dunnen
?/. - c.401A>G VUS r.(?) p.(Tyr134Cys) Unknown g.30639639A>G - - - GARS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.408A>T VUS r.(?) p.(Gln136His) Unknown g.30639646A>T - GARS(NM_002047.2):c.408A>T (p.(Gln136His)) - GARS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.410C>T VUS r.(?) p.(Ala137Val) Unknown g.30639648C>T - GARS(NM_002047.2):c.410C>T (p.A137V) - GARS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.418A>G VUS r.(?) p.(Ile140Val) Unknown g.30639656A>G - GARS(NM_002047.4):c.418A>G (p.I140V) - GARS_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.426A>T - r.(=) p.(=) Parent #1 g.30639664A>T g.30600048A>T - - GARS_000079 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.547C>T pathogenic r.(?) p.(Leu183Phe) Unknown g.30640794C>T - GARS(NM_002047.4):c.547C>T (p.L183F) - GARS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.548T>C - r.(?) p.(Leu183Pro) Parent #1 g.30640795T>C g.30601179T>C - - GARS_000002 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 4 c.548T>C pathogenic (dominant) r.(?) p.(Leu183Pro) Parent #1 g.30640795T>C - 904C>T (L129P) - GARS_000002 not in 376 control chromosomes PubMed: Sivakumar 2005 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Sivakumar 2005 - - - Bulgaria - - 0 - - 3 Johan den Dunnen
+/. 4 c.548T>C pathogenic (dominant) r.(?) p.(Leu183Pro) Parent #1 g.30640795T>C - 904C>T (L129P) - GARS_000002 not in 376 control chromosomes PubMed: Antonellis 2003, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - HMN - PubMed: Sivakumar 2005 - - - Bulgaria - - 0 - - 21 Johan den Dunnen
?/. - c.562G>A VUS r.(?) p.(Val188Ile) Unknown g.30640809G>A - - - GARS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.569+173T>C - r.(=) p.(=) Parent #1 g.30640989T>C g.30601373T>C - - GARS_000066 - - - rs10280491 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.598G>C likely pathogenic r.(?) p.(Asp200His) Unknown g.30642678G>C - GARS(NM_002047.2):c.598G>C (p.(Asp200His)) - GARS_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.628G>A - r.(?) p.(Glu210Lys) Parent #1 g.30642708G>A g.30603092G>A - - GARS_000067 PolyPhen: benign - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.787G>A VUS r.(?) p.(Val263Ile) Unknown g.30649252G>A - GARS(NM_002047.4):c.787G>A (p.V263I) - GARS_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.803C>T benign r.(?) p.(Thr268Ile) Unknown g.30649268C>T - GARS(NM_002047.2):c.803C>T (p.T268I), GARS(NM_002047.4):c.803C>T (p.T268I) - GARS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.803C>T likely benign r.(?) p.(Thr268Ile) Unknown g.30649268C>T - GARS(NM_002047.2):c.803C>T (p.T268I), GARS(NM_002047.4):c.803C>T (p.T268I) - GARS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.880G>C pathogenic r.(?) p.(Gly294Arg) Unknown g.30649345G>C - GARS(NM_002047.4):c.880G>C (p.G294R) - GARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.880G>C pathogenic (dominant) r.(?) p.(Gly294Arg) Parent #1 g.30649345G>C - 1236G>C (G240R) - GARS_000003 - PubMed: Antonellis 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Antonellis 2003, OMIM:var0001 - - - United States - - 0 - - 3 Johan den Dunnen
+/. 7 c.880G>C pathogenic (dominant) r.(?) p.(Gly294Arg) Parent #1 g.30649345G>C - 1236G>C (G240R) - GARS_000003 not in 368 control chromosomes PubMed: Antonellis 2003, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: Sivakumar 2005 - - - United States - - 0 - - 14 Johan den Dunnen
-?/. - c.882-15T>G likely benign r.(=) p.(=) Unknown g.30651697T>G - GARS(NM_002047.4):c.882-15T>G - GARS_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.893C>T pathogenic r.(?) p.(Pro298Leu) Parent #1 g.30651723C>T - P244L - GARS_000001 not in 200 control chromosomes PubMed: Abe 2009, OMIM:var0006 - - Unknown - - - 0 - DNA DHPLC, SEQ - - CMT - PubMed: Abe 2009, OMIM:var0006 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.1000A>T pathogenic r.(?) p.(Ile334Phe) Unknown g.30651830A>T - GARS(NM_002047.4):c.1000A>T (p.I334F) - GARS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.1000A>T pathogenic (dominant) r.(?) p.(Ile334Phe) Parent #1 g.30651830A>T - I120F - GARS_000004 - PubMed: James 2006 - - Germline - - - 0 - DNA SEQ - - HMN - PubMed: James 2006 - - - United Kingdom (Great Britain) - - 0 - - 5 Johan den Dunnen
+/. - c.1007C>A - r.(?) p.(Pro336His) Parent #1 g.30651837C>A g.30612221C>A - - GARS_000068 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.1031+14T>G likely benign r.(=) p.(=) Unknown g.30651875T>G - GARS(NM_002047.2):c.1031+14T>G, GARS(NM_002047.4):c.1031+14T>G - GARS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1031+14T>G benign r.(=) p.(=) Unknown g.30651875T>G - GARS(NM_002047.2):c.1031+14T>G, GARS(NM_002047.4):c.1031+14T>G - GARS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1031+61del - r.(=) p.(=) Parent #1 g.30651922del g.30612306del - - GARS_000069 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1032-23A>T - r.(=) p.(=) Parent #1 g.30655489A>T g.30615873A>T - - GARS_000016 - - - rs2527878 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 8i c.1032-23A>T benign r.(?) p.(=) Unknown g.30655489A>T - - - GARS_000016 - PubMed: Abe 2009 - rs2709772 Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.1062T>C - r.(=) p.(=) Parent #1 g.30655542T>C g.30615926T>C - - GARS_000071 - - - rs11553502 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1062T>C benign r.(?) p.(=) Unknown g.30655542T>C - GARS(NM_002047.4):c.1062T>C (p.F354=) - GARS_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1062T>C benign r.(?) p.(=) Unknown g.30655542T>C - GARS(NM_002047.4):c.1062T>C (p.F354=) - GARS_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1100A>G VUS r.(?) p.(Asn367Ser) Unknown g.30655580A>G - GARS(NM_001316772.1):c.938A>G (p.N313S) - GARS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1171C>T - r.(?) p.(Arg391Cys) Unknown g.30655651C>T - - - GARS_000085 - - - - Germline - - - 0 - DNA SEQ Blood - CMT-2 ? - - - - Spain - - 0 - - 1 Carmen Espinós
-/. 10i c.1359+97A>G benign r.(?) p.(=) Unknown g.30656991A>G - - - GARS_000017 - PubMed: Abe 2009 - - Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
?/. - c.1391G>A VUS r.(?) p.(Arg464His) Unknown g.30661040G>A - GARS(NM_002047.4):c.1391G>A (p.R464H) - GARS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1415A>G pathogenic r.(?) p.(His472Arg) Unknown g.30661064A>G - GARS(NM_002047.4):c.1415A>G (p.H472R) - GARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.1415A>G pathogenic (dominant) r.(?) p.(His472Arg) Parent #1 g.30661064A>G - H418R - GARS_000005 not in 324 control chromosomes PubMed: Sivakumar 2005 - - Germline - - - 0 - DNA SEQ - - HMN - PubMed: Sivakumar 2005 - - - Australia;United Kingdom (Great Britain) - - 0 - - 8 Johan den Dunnen
?/. - c.1467+85A>G - r.(=) p.(=) Parent #1 g.30661201A>G g.30621585A>G - - GARS_000072 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1467+121G>A - r.(=) p.(=) Parent #1 g.30661237G>A g.30621621G>A - - GARS_000073 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1581T>A benign r.(?) p.(=) Unknown g.30662046T>A - GARS(NM_002047.4):c.1581T>A (p.I527=) - GARS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1613+9T>C - r.(=) p.(=) Parent #1 g.30662087T>C g.30622471T>C - - GARS_000074 - - - rs75855065 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1613+9T>C benign r.(=) p.(=) Unknown g.30662087T>C - GARS(NM_002047.4):c.1613+9T>C - GARS_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1613+9T>C benign r.(=) p.(=) Unknown g.30662087T>C - GARS(NM_002047.4):c.1613+9T>C - GARS_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1660G>A pathogenic r.(?) p.(Asp554Asn) Unknown g.30665896G>A - GARS(NM_002047.4):c.1660G>A (p.D554N) - GARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.1660G>A pathogenic (dominant) r.(?) p.(Asp554Asn) Parent #1 g.30665896G>A - D500N - GARS_000006 not in 200 control chromosomes PubMed: Del Bo 2006, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Del Bo 2006 - - - Italy - - 0 - - 6 Johan den Dunnen
-/. - c.1700-45T>C - r.(=) p.(=) Parent #1 g.30668131T>C g.30628515T>C - - GARS_000075 - - - rs118002895 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.1705G>A likely pathogenic r.(?) p.(Glu569Lys) Unknown g.30668181G>A - - - GARS_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1715C>T VUS r.(?) p.(Pro572Leu) Unknown g.30668191C>T - - - GARS_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 14 c.1716G>A benign r.(?) p.(=) Unknown g.30668192G>A - P518P - GARS_000018 - PubMed: Abe 2009 - - Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
+?/. - c.1738G>A likely pathogenic r.(?) p.(Gly580Ser) Unknown g.30668214G>A - GARS(NM_002047.4):c.1738G>A (p.G580S) - GARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1738G>C pathogenic r.(?) p.(Gly580Arg) Unknown g.30668214G>C - GARS(NM_002047.4):c.1738G>C (p.G580R) - GARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 14 c.1738G>C pathogenic (dominant) r.(?) p.(Gly580Arg) Parent #1 g.30668214G>C - 2094G>C (G526R) - GARS_000007 not in 360 control chromosomes PubMed: Antonellis 2003, OMIM:var0004 - rs137852646 Germline - - - 0 - DNA SEQ - - HMN - PubMed: Sivakumar 2005 - - - France jewish, Sephardic - 0 - - 6 Johan den Dunnen
?/. - c.1757A>G VUS r.(?) p.(Tyr586Cys) Unknown g.30668233A>G - - - GARS_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1809+14T>C likely benign r.(=) p.(=) Unknown g.30668299T>C - GARS(NM_002047.4):c.1809+14T>C - GARS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1810-62T>C - r.(=) p.(=) Parent #1 g.30671002T>C g.30631386T>C - - GARS_000076 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.1822C>T VUS r.(?) p.(Pro608Ser) Unknown g.30671076C>T - - - GARS_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1833T>C - r.(=) p.(=) Parent #1 g.30671087T>C g.30631471T>C - - GARS_000061 - - - rs14270 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1833T>C benign r.(?) p.(=) Unknown g.30671087T>C - GARS(NM_002047.4):c.1833T>C (p.V611=) - GARS_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1833T>C benign r.(?) p.(=) Unknown g.30671087T>C - GARS(NM_002047.4):c.1833T>C (p.V611=) - GARS_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1852G>A VUS r.(?) p.(Val618Ile) Unknown g.30671106G>A - GARS(NM_002047.4):c.1852G>A (p.V618I) - GARS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1904C>T pathogenic r.(?) p.(Ser635Leu) Unknown g.30671863C>T - GARS(NM_002047.4):c.1904C>T (p.S635L) - GARS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1904C>T pathogenic (dominant) r.(spl?) p.(Ser635Leu) Parent #1 g.30671863C>T - 2260C>T (S581L) - GARS_000008 - PubMed: James 2006 - - Germline - - - 0 - DNA SEQ - - CMT - PubMed: James 2006 - - - United Kingdom (Great Britain) - - 0 - - 3 Johan den Dunnen
+/. - c.1955G>C pathogenic r.(?) p.(Gly652Ala) Unknown g.30671914G>C - GARS(NM_002047.4):c.1955G>C (p.G652A) - GARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16 c.1955G>C pathogenic r.(?) p.(Gly652Ala) Parent #1 g.30671914G>C - 2313G>C (G598A) - GARS_000009 - PubMed: James 2006 - - De novo - - - 0 - DNA SEQ - - HMN - PubMed: James 2006 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.1962C>T - r.(=) p.(=) Parent #1 g.30671921C>T g.30632305C>T - - GARS_000062 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.1963G>A VUS r.(?) p.(Gly655Arg) Unknown g.30671922G>A - GARS(NM_002047.4):c.1963G>A (p.G655R) - GARS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 16i c.2094+26T>G benign r.(?) p.(=) Unknown g.30672079T>G - - - GARS_000019 - PubMed: Abe 2009 - - Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.2095-6C>T benign r.(=) p.(=) Unknown g.30673345C>T - GARS(NM_002047.2):c.2095-6C>T, GARS(NM_002047.4):c.2095-6C>T - GARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2095-6C>T benign r.(=) p.(=) Unknown g.30673345C>T - GARS(NM_002047.2):c.2095-6C>T, GARS(NM_002047.4):c.2095-6C>T - GARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2095-6C>T benign r.(=) p.(=) Unknown g.30673345C>T - GARS(NM_002047.2):c.2095-6C>T, GARS(NM_002047.4):c.2095-6C>T - GARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 16i c.2095-6C>T benign r.(?) p.(=) Unknown g.30673345C>T - - - GARS_000020 - PubMed: Abe 2009 - rs2240401 Germline - - - 0 - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Abe 2009 - - - Japan - - 0 - - 1 Johan den Dunnen
?/. - c.2108C>T - r.(?) p.(Pro703Leu) Parent #1 g.30673364C>T g.30633748C>T - - GARS_000063 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
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