All variants in the GARS gene

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.

136 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

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     
./. - c.-7446888_*2258558del r.0 p.0 - pathogenic g.23187650_32932034del - - - ADCYAP1R1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
?/. - c.-225G>A r.(=) p.(=) - VUS g.30634313G>A g.30594697G>A - - GARS_000077 - - - - Germline - - - 0 - Andreas Laner
-/. - c.-205C>T r.(?) p.(=) - benign g.30634333C>T g.30594717C>T - - GARS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2T>C r.(?) p.(Met1?) ACMG VUS g.30634539T>C g.30594923T>C - - GARS_000090 ACMG: PM2; PVS1 not selected, in-frame ATG <200nt from c.1A - - - Germline - - - 0 - Andreas Laner
?/. - c.3G>T r.(?) p.(Met1?) - VUS g.30634540G>T g.30594924G>T - - GARS_000091 79 heterozygous; {DB:CLININ7:30634540} Faruq 2020, submtted - - Germline - 79/2794 individuals - 0 - Mohammed Faruq
-/. - c.11C>T r.(?) p.(Pro4Leu) - benign g.30634548C>T g.30594932C>T GARS(NM_002047.4):c.11C>T (p.P4L) - GARS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.11C>T r.(?) p.(Pro4Leu) - benign g.30634548C>T g.30594932C>T GARS(NM_002047.4):c.11C>T (p.P4L) - GARS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.11C>T r.(?) p.(Pro4Leu) - likely benign g.30634548C>T g.30594932C>T - - GARS_000053 15 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs62636572 Germline - 15/2794 individuals - 0 - Mohammed Faruq
?/. - c.44C>T r.(?) p.(Ala15Val) - VUS g.30634581C>T g.30594965C>T GARS(NM_002047.4):c.44C>T (p.A15V) - GARS_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.59_61del r.(?) p.(Leu20del) - benign g.30634596_30634598del g.30594980_30594982del 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 - - - - - VKGL-NL_AMC
-?/. - c.59_61del r.(?) p.(Leu20del) - likely benign g.30634596_30634598del g.30594980_30594982del 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 - - - - - VKGL-NL_Groningen
?/. - c.80G>C r.(?) p.(Arg27Pro) ACMG VUS g.30634617G>C g.30595001G>C - - GARS_000096 ACMG PM2, BP4 PubMed: Forrester 2020 - - De novo - - - 0 - Johan den Dunnen
-/. - c.93G>C r.(=) p.(=) - benign g.30634630G>C g.30595014G>C - - GARS_000012 - - - rs2529438 Germline - - - 0 - Andreas Laner
-/. - c.93G>C r.(?) p.(Leu31=) - benign g.30634630G>C g.30595014G>C GARS(NM_002047.4):c.93G>C (p.L31=) - GARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.93G>C r.(?) p.(Leu31=) - benign g.30634630G>C g.30595014G>C GARS(NM_002047.4):c.93G>C (p.L31=) - GARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.93G>C r.(?) p.(=) - benign g.30634630G>C g.30595014G>C - - GARS_000012 - PubMed: Abe 2009 - rs2529438 Germline - - - 0 - Johan den Dunnen
-/. - c.124C>G r.(?) p.(Pro42Ala) - benign g.30634661C>G g.30595045C>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 - VKGL-NL_AMC
-/. - c.124C>G r.(?) p.(Pro42Ala) - benign g.30634661C>G g.30595045C>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 - VKGL-NL_Groningen
-/. - c.124C>G r.(?) p.(Pro42Ala) - benign g.30634661C>G g.30595045C>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 - VKGL-NL_Nijmegen
-/. 1 c.124C>G r.(?) p.(Pro42Ala) - benign g.30634661C>G g.30595045C>G - - GARS_000013 - PubMed: Abe 2009 - rs1049402 Germline - - - 0 - Johan den Dunnen
-/. - c.222+5C>T r.spl? p.? - benign g.30634764C>T g.30595148C>T GARS(NM_002047.4):c.222+5C>T - GARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.222+5C>T r.spl? p.? - benign g.30634764C>T g.30595148C>T GARS(NM_002047.4):c.222+5C>T - GARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 2i c.222+5C>T r.(?) p.(=) - benign g.30634764C>T g.30595148C>T - - GARS_000014 - PubMed: Abe 2009 - rs2072236 Germline - - - 0 - Johan den Dunnen
-/. 2i c.222+94_222+96del r.(?) p.(=) - benign g.30634853_30634855del g.30595237_30595239del c.222+93_95delCCT - GARS_000015 - PubMed: Abe 2009 - rs2527878 Germline - - - 0 - Johan den Dunnen
?/. - c.236G>A r.(?) p.(Arg79Gln) - VUS g.30638425G>A g.30598809G>A - - GARS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.253A>G r.(?) p.(Lys85Glu) - VUS g.30638442A>G g.30598826A>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 - VKGL-NL_AMC
?/. - c.253A>G r.(?) p.(Lys85Glu) - VUS g.30638442A>G g.30598826A>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 - - - - - VKGL-NL_Rotterdam
?/. - c.302G>A r.(?) p.(Arg101His) - VUS g.30638491G>A g.30598875G>A - - GARS_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.302G>A r.(?) p.(Arg101His) - likely pathogenic (!) g.30638491G>A g.30598875G>A NM_002047.1:c.140G>A - GARS_000094 asymptomatic parent is heterozygous, incomplete penetrance recorded PubMed: Antoniadi 2015 - rs200887429 Germline - - - 0 - Johan den Dunnen
+/. - c.332C>T r.(?) p.(Ala111Val) - pathogenic g.30639570C>T g.30599954C>T GARS(NM_002047.4):c.332C>T (p.A111V) - GARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 3 c.332C>T r.(?) p.(Ala111Val) - pathogenic g.30639570C>T g.30599954C>T 688C>T (A57V) - GARS_000010 - PubMed: Rohkamm 2007 - - Unknown - - - 0 - Johan den Dunnen
+/. - c.373G>A r.(?) p.(Glu125Lys) ACMG pathogenic (dominant) g.30639611G>A g.30599995G>A - - GARS_000095 ACMG PS4_SUP, PM2, PM5 ,PM6, PP3 PubMed: Forrester 2020 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.373G>A r.(?) p.(Glu125Lys) - pathogenic (dominant) g.30639611G>A g.30599995G>A E125K - GARS_000095 - PubMed: Farwell 2015 - - De novo - - - 0 - Johan den Dunnen
+/. - c.374A>G r.(?) p.(Glu125Gly) - pathogenic g.30639612A>G g.30599996A>G GARS(NM_002047.4):c.374A>G (p.E125G) - GARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 3 c.374A>G r.(?) p.(Glu125Gly) - pathogenic (dominant) g.30639612A>G g.30599996A>G 730A>G (E71G) - GARS_000011 not in 398 control chromosomes PubMed: Antonellis 2003, OMIM:var0003 - rs137852645 Germline - - - 0 - Johan den Dunnen
+/. 3 c.374A>G r.(?) p.(Glu125Gly) - pathogenic (dominant) g.30639612A>G g.30599996A>G 730A>G (E71G) - GARS_000011 not in 398 control chromosomes PubMed: Antonellis 2003, OMIM:var0003 - rs137852645 Germline - - - 0 - Johan den Dunnen
?/. - c.401A>G r.(?) p.(Tyr134Cys) - VUS g.30639639A>G g.30600023A>G - - GARS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.408A>T r.(?) p.(Gln136His) - VUS g.30639646A>T g.30600030A>T GARS(NM_002047.2):c.408A>T (p.(Gln136His)) - GARS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.410C>T r.(?) p.(Ala137Val) - VUS g.30639648C>T g.30600032C>T GARS(NM_002047.2):c.410C>T (p.A137V) - GARS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.418A>G r.(?) p.(Ile140Val) - VUS g.30639656A>G g.30600040A>G GARS(NM_002047.4):c.418A>G (p.I140V) - GARS_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.426A>T r.(=) p.(=) - VUS g.30639664A>T g.30600048A>T - - GARS_000079 - - - - Germline - - - 0 - Andreas Laner
+/. - c.547C>T r.(?) p.(Leu183Phe) - pathogenic g.30640794C>T g.30601178C>T GARS(NM_002047.4):c.547C>T (p.L183F) - GARS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.548T>C r.(?) p.(Leu183Pro) - pathogenic g.30640795T>C g.30601179T>C - - GARS_000002 - - - - Germline - - - 0 - Andreas Laner
+/. 4 c.548T>C r.(?) p.(Leu183Pro) - pathogenic (dominant) g.30640795T>C g.30601179T>C 904C>T (L129P) - GARS_000002 not in 376 control chromosomes PubMed: Sivakumar 2005 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.548T>C r.(?) p.(Leu183Pro) - pathogenic (dominant) g.30640795T>C g.30601179T>C 904C>T (L129P) - GARS_000002 not in 376 control chromosomes PubMed: Antonellis 2003, OMIM:var0002 - - Germline - - - 0 - Johan den Dunnen
?/. - c.562G>A r.(?) p.(Val188Ile) - VUS g.30640809G>A g.30601193G>A - - GARS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.569+173T>C r.(=) p.(=) - benign g.30640989T>C g.30601373T>C - - GARS_000066 - - - rs10280491 Germline - - - 0 - Andreas Laner
+?/. - c.598G>C r.(?) p.(Asp200His) - likely pathogenic g.30642678G>C g.30603062G>C GARS(NM_002047.2):c.598G>C (p.(Asp200His)) - GARS_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.628G>A r.(?) p.(Glu210Lys) - VUS g.30642708G>A g.30603092G>A - - GARS_000067 PolyPhen: benign - - - Germline - - - 0 - Andreas Laner
+?/. - c.647A>G r.(?) p.(His216Arg) ACMG likely pathogenic (dominant) g.30642727A>G g.30603111A>G - - GARS_000099 ACMG PM1, PM2, PP3, PP4_STR PubMed: Boczonadi 2018, PubMed: Forrester 2020 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.647A>G r.(?) p.(His216Arg) - likely pathogenic (dominant) g.30642727A>G g.30603111A>G - - GARS_000099 - PubMed: Boczonadi 2018 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.647A>G r.(?) p.(His216Arg) - likely pathogenic (dominant) g.30642727A>G g.30603111A>G NM_002047.1:c.485A>G - GARS_000099 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.766G>C r.(?) p.(Asp256His) - likely benign g.30649231G>C g.30609615G>C - - GARS_000092 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs201399681 Germline - 1/2792 individuals - 0 - Mohammed Faruq
?/. - c.787G>A r.(?) p.(Val263Ile) - VUS g.30649252G>A g.30609636G>A GARS(NM_001316772.1):c.625G>A (p.V209I) - GARS_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.803C>T r.(?) p.(Thr268Ile) - benign g.30649268C>T g.30609652C>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 - - - - - VKGL-NL_AMC
-?/. - c.803C>T r.(?) p.(Thr268Ile) - likely benign g.30649268C>T g.30609652C>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 - - - - - VKGL-NL_Groningen
-?/. - c.803C>T r.(?) p.(Thr268Ile) - likely benign g.30649268C>T g.30609652C>T - - GARS_000030 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs2230310 Germline - 2/2793 individuals - 0 - Mohammed Faruq
-?/. - c.803C>T r.(?) p.(Thr268Ile) - likely benign 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 - - - - - VKGL-NL_Utrecht
+/. - c.880G>C r.(?) p.(Gly294Arg) - pathogenic g.30649345G>C g.30609729G>C GARS(NM_002047.4):c.880G>C (p.G294R) - GARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 7 c.880G>C r.(?) p.(Gly294Arg) - pathogenic (dominant) g.30649345G>C g.30609729G>C 1236G>C (G240R) - GARS_000003 - PubMed: Antonellis 2003, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.880G>C r.(?) p.(Gly294Arg) - pathogenic (dominant) g.30649345G>C g.30609729G>C 1236G>C (G240R) - GARS_000003 not in 368 control chromosomes PubMed: Antonellis 2003, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.882-15T>G r.(=) p.(=) - likely benign g.30651697T>G g.30612081T>G GARS(NM_002047.4):c.882-15T>G - GARS_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 8 c.893C>T r.(?) p.(Pro298Leu) - pathogenic g.30651723C>T g.30612107C>T P244L - GARS_000001 not in 200 control chromosomes PubMed: Abe 2009, OMIM:var0006 - - Unknown - - - 0 - Johan den Dunnen
+?/. - c.979G>A r.(?) p.(Gly327Arg) ACMG likely pathogenic (dominant) g.30651809G>A g.30612193G>A NM_002047.1:817G>A (Gly273Arg) - GARS_000101 ACMG PS4 SUP, PM1_SUP, PM2, PM6, PP3 PubMed: Antoniadi 2015, PubMed: Forrester 2020 - - De novo - - - 0 - Johan den Dunnen
?/. - c.983A>G r.(?) p.(Asn328Ser) - VUS g.30651813A>G - GARS(NM_001316772.1):c.821A>G (p.N274S) - GARS_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.999G>C r.(?) p.(Glu333Asp) - likely pathogenic (dominant) g.30651829G>C g.30612213G>C NM_002047.1:c.837G>C - GARS_000103 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1000A>T r.(?) p.(Ile334Phe) - pathogenic g.30651830A>T g.30612214A>T GARS(NM_002047.4):c.1000A>T (p.I334F) - GARS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 8 c.1000A>T r.(?) p.(Ile334Phe) - pathogenic (dominant) g.30651830A>T g.30612214A>T I120F - GARS_000004 - PubMed: James 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1007C>A r.(?) p.(Pro336His) - pathogenic g.30651837C>A g.30612221C>A - - GARS_000068 - - - - Germline - - - 0 - Andreas Laner
-?/. - c.1031+14T>G r.(=) p.(=) - likely benign g.30651875T>G g.30612259T>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 - VKGL-NL_AMC
-/. - c.1031+14T>G r.(=) p.(=) - benign g.30651875T>G g.30612259T>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 - VKGL-NL_Utrecht
-/. - c.1031+61del r.(=) p.(=) - benign g.30651922del g.30612306del - - GARS_000069 - - - - Germline - - - 0 - Andreas Laner
-/. - c.1032-23A>T r.(=) p.(=) - benign g.30655489A>T g.30615873A>T - - GARS_000016 - - - rs2527878 Germline - - - 0 - Andreas Laner
-/. 8i c.1032-23A>T r.(?) p.(=) - benign g.30655489A>T g.30615873A>T - - GARS_000016 - PubMed: Abe 2009 - rs2709772 Germline - - - 0 - Johan den Dunnen
-/. - c.1062T>C r.(=) p.(=) - benign g.30655542T>C g.30615926T>C - - GARS_000071 - - - rs11553502 Germline - - - 0 - Andreas Laner
-/. - c.1062T>C r.(?) p.(Phe354=) - benign g.30655542T>C g.30615926T>C GARS(NM_002047.4):c.1062T>C (p.F354=) - GARS_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1062T>C r.(?) p.(Phe354=) - benign g.30655542T>C g.30615926T>C GARS(NM_002047.4):c.1062T>C (p.F354=) - GARS_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1100A>G r.(?) p.(Asn367Ser) - VUS g.30655580A>G g.30615964A>G GARS(NM_001316772.1):c.938A>G (p.N313S) - GARS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.1171C>T r.(?) p.(Arg391Cys) - likely pathogenic g.30655651C>T g.30616035C>T - - GARS_000085 - - - - Germline - - - 0 - Carmen Espinós
-/. 10i c.1359+97A>G r.(?) p.(=) - benign g.30656991A>G g.30617375A>G - - GARS_000017 - PubMed: Abe 2009 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1391G>A r.(?) p.(Arg464His) - VUS g.30661040G>A g.30621424G>A GARS(NM_002047.4):c.1391G>A (p.R464H) - GARS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.1415A>G r.(?) p.(His472Arg) - pathogenic g.30661064A>G g.30621448A>G GARS(NM_002047.4):c.1415A>G (p.H472R) - GARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 11 c.1415A>G r.(?) p.(His472Arg) - pathogenic (dominant) g.30661064A>G g.30621448A>G H418R - GARS_000005 not in 324 control chromosomes PubMed: Sivakumar 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1415A>G r.(?) p.(His472Arg) - pathogenic (dominant) g.30661064A>G g.30621448A>G - - GARS_000005 - PubMed: Forrester 2020 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.1415A>G r.(?) p.(His472Arg) - pathogenic (dominant) g.30661064A>G g.30621448A>G - - GARS_000005 - PubMed: Forrester 2020 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.1415A>G r.(?) p.(His472Arg) - pathogenic (dominant) g.30661064A>G g.30621448A>G NM_002047.1:c.1253A>G - GARS_000005 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1467+85A>G r.(=) p.(=) - VUS g.30661201A>G g.30621585A>G - - GARS_000072 - - - - Germline - - - 0 - Andreas Laner
-/. - c.1467+121G>A r.(=) p.(=) - benign g.30661237G>A g.30621621G>A - - GARS_000073 - - - - Germline - - - 0 - Andreas Laner
+?/. - c.1528A>C r.(?) p.(Lys510Gln) ACMG likely pathogenic (dominant) g.30661993A>C g.30622377A>C - - GARS_000097 ACMG PM2, PP3 PubMed: Forrester 2020 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1528A>C r.(?) p.(Lys510Gln) - likely pathogenic (dominant) g.30661993A>C g.30622377A>C NM_002047.1:c.1366A>C - GARS_000097 AD, segregates with disease PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1581T>A r.(?) p.(Ile527=) - benign g.30662046T>A g.30622430T>A GARS(NM_002047.4):c.1581T>A (p.I527=) - GARS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1613+9T>C r.(=) p.(=) - benign g.30662087T>C g.30622471T>C - - GARS_000074 - - - rs75855065 Germline - - - 0 - Andreas Laner
-/. - c.1613+9T>C r.(=) p.(=) - benign g.30662087T>C g.30622471T>C GARS(NM_002047.4):c.1613+9T>C - GARS_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1613+9T>C r.(=) p.(=) - benign g.30662087T>C g.30622471T>C GARS(NM_002047.4):c.1613+9T>C - GARS_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1660G>A r.(?) p.(Asp554Asn) - pathogenic g.30665896G>A g.30626280G>A GARS(NM_002047.4):c.1660G>A (p.D554N) - GARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 13 c.1660G>A r.(?) p.(Asp554Asn) - pathogenic (dominant) g.30665896G>A g.30626280G>A D500N - GARS_000006 not in 200 control chromosomes PubMed: Del Bo 2006, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1663A>G r.(?) p.(Met555Val) ACMG likely pathogenic (dominant) g.30665899A>G g.30626283A>G - - GARS_000098 ACMG PM2, BP4 PubMed: Forrester 2020 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1700-45T>C r.(=) p.(=) - benign g.30668131T>C g.30628515T>C - - GARS_000075 - - - rs118002895 Germline - - - 0 - Andreas Laner
-?/. - c.1700-45T>C r.(=) p.(=) - likely benign g.30668131T>C g.30628515T>C - - GARS_000075 77 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs118002895 Germline - 77/2790 individuals - 0 - Mohammed Faruq
+?/. - c.1705G>A r.(?) p.(Glu569Lys) - likely pathogenic g.30668181G>A g.30628565G>A - - GARS_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   « First ‹ Prev     1 2     Next › Last »