Full data view for gene AARS

NOTE: gene name changed from AARS to AARS1
Information The variants shown are described using the NM_001605.2 transcript reference sequence.

151 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     
-?/. - c.-14G>A r.(?) p.(=) Unknown - likely benign g.70316680C>T g.70282777C>T AARS(NM_001605.2):c.-14G>A - AARS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64G>A r.(?) p.(Glu22Lys) Unknown - benign g.70316603C>T g.70282700C>T AARS(NM_001605.2):c.64G>A (p.E22K) - AARS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.97C>G r.(?) p.(Pro33Ala) Unknown - VUS g.70316570G>C g.70282667G>C AARS(NM_001605.2):c.97C>G (p.P33A) - AARS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.100T>C r.(?) p.(Leu34=) Unknown - likely benign g.70316567A>G g.70282664A>G AARS(NM_001605.2):c.100T>C (p.L34=) - AARS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>T r.(?) p.(Ala42=) Unknown - likely benign g.70316541G>A - AARS(NM_001605.2):c.126C>T (p.A42=) - AARS_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.211A>T r.(?) p.(Asn71Tyr) Unknown - pathogenic g.70310991T>A g.70277088T>A - - AARS_000002 - - - - Germline - - - 0 - DNA SEQ - - CMT - - - - - - - - 0 - - 1 Heather McLaughlin
+/. - c.211A>T r.(?) p.(Asn71Tyr) Parent #1 - pathogenic (dominant) g.70310991T>A g.70277088T>A - - AARS_000002 - PubMed: Lin 2011 - - Germline yes - - 0 - DNA SEQ - gene panel CMT family PubMed: Lin 2011 3-generation family, 7 affected (4F, 3M) - - Taiwan - - 0 - - 7 Johan den Dunnen
+?/. - c.212A>G r.(?) p.(Asn71Ser) Parent #1 ACMG likely pathogenic g.70310990T>C g.70277087T>C - - AARS_000028 ACMG pm1, pm2, pm4 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat1 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - 1 Johan den Dunnen
?/. - c.299T>C r.(?) p.(Met100Thr) Unknown - VUS g.70310903A>G g.70277000A>G - - AARS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.497T>G r.(?) p.(Ile166Ser) Unknown - VUS g.70305858A>C g.70271955A>C - - AARS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Ala200=) Unknown - likely benign g.70305755G>A g.70271852G>A AARS(NM_001605.2):c.600C>T (p.A200=) - AARS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.671+3A>G r.spl? p.? Unknown - benign g.70305681T>C g.70271778T>C AARS(NM_001605.2):c.671+3A>G - AARS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700C>T r.(?) p.(Pro234Ser) Unknown - VUS g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.700C>T r.(?) p.(Pro234Ser) Unknown - likely benign g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700C>T r.(?) p.(Pro234Ser) Unknown - VUS g.70304215G>A g.70270312G>A AARS(NM_001605.2):c.700C>T (p.P234S) - AARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700C>T r.(?) p.(Pro234Ser) Parent #1 - VUS g.70304215G>A g.70270312G>A - - AARS_000020 conflicting interpretations of pathogenicity; 20 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141840552 Germline - 20/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 20 Mohammed Faruq
?/. - c.700C>T r.(?) p.(Pro234Ser) Both (homozygous) - VUS g.70304215G>A g.70270312G>A - - AARS_000020 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141840552 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.736C>T r.(?) p.(Arg246Ter) Unknown - VUS g.70304179G>A g.70270276G>A AARS(NM_001605.2):c.736C>T (p.R246*) - AARS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.736C>T r.(?) p.(Arg246Ter) Unknown - VUS g.70304179G>A g.70270276G>A AARS(NM_001605.2):c.736C>T (p.R246*) - AARS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.824G>A r.(?) p.(Gly275Asp) Unknown - benign g.70303659C>T g.70269756C>T AARS(NM_001605.2):c.824G>A (p.G275D) - AARS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.893T>A r.(?) p.(Leu298Gln) Parent #1 - likely pathogenic g.70303590A>T g.70269687A>T - - AARS_000066 - - - - Germline - - - - - DNA SEQ-NG - WES ? - - - F - - - - - - - 1 Fanny Kortüm
-/. - c.903C>T r.(=) p.(=) Parent #1 - benign g.70303580G>A g.70269677G>A - - AARS_000012 - - - rs2070203 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.903C>T r.(?) p.(His301=) Unknown - benign g.70303580G>A g.70269677G>A AARS(NM_001605.2):c.903C>T (p.H301=) - AARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.903C>T r.(?) p.(His301=) Unknown - benign g.70303580G>A g.70269677G>A AARS(NM_001605.2):c.903C>T (p.H301=) - AARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904G>A r.(?) p.(Ala302Thr) Unknown - likely benign g.70303579C>T g.70269676C>T AARS(NM_001605.2):c.904G>A (p.A302T, p.(Ala302Thr)) - AARS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904G>A r.(?) p.(Ala302Thr) Unknown - likely benign g.70303579C>T g.70269676C>T AARS(NM_001605.2):c.904G>A (p.A302T, p.(Ala302Thr)) - AARS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962+165C>A r.(=) p.(=) Parent #1 - VUS g.70303356G>T g.70269453G>T - - AARS_000011 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.976C>T r.(?) p.(Arg326Trp) Paternal (confirmed) - pathogenic (dominant) g.70302269G>A g.70268366G>A - - AARS_000069 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamL21PatII7 PubMed: Weterman 2018 5-generation family, 11 affected (7F, 4M) F - - - - 0 - - 11 Johan den Dunnen
+/. - c.976C>T r.(?) p.(Arg326Trp) Paternal (confirmed) - pathogenic (dominant) g.70302269G>A g.70268366G>A - - AARS_000069 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamL21PatII10 PubMed: Weterman 2018 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.976C>T r.(?) p.(Arg326Trp) Paternal (confirmed) - pathogenic (dominant) g.70302269G>A g.70268366G>A - - AARS_000069 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamL21PatII13 PubMed: Weterman 2018 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.976C>T r.(?) p.(Arg326Trp) Paternal (confirmed) - pathogenic (dominant) g.70302269G>A g.70268366G>A - - AARS_000069 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamL21PatII4 PubMed: Weterman 2018 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.976C>T r.(?) p.(Arg326Trp) Parent #1 - pathogenic (dominant) g.70302269G>A g.70268366G>A - - AARS_000069 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamL21PatIII48 PubMed: Weterman 2018 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.976C>T r.(?) p.(Arg326Trp) Parent #1 - pathogenic (dominant) g.70302269G>A g.70268366G>A - - AARS_000069 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamL21PatIII46 PubMed: Weterman 2018 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.976C>T r.(?) p.(Arg326Trp) Parent #1 - pathogenic (dominant) g.70302269G>A g.70268366G>A - - AARS_000069 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamL21PatIII35 PubMed: Weterman 2018 - F - - - - 0 - - 1 Johan den Dunnen
+/. 8 c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 - - - - Germline - - - 0 - DNA SEQ - - CMT - - - - - - - - 0 - - 1 Heather McLaughlin
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.986G>A r.(?) p.Arg329His Unknown ACMG likely pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 ACMG grading: PS3,PP1,PM2,PP5; reported in Latour P 2009. Am J Hum Genet 86: 77-82 - - rs267606621 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
+?/. - c.986G>A r.(?) p.(Arg329His) Unknown ACMG likely pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 ACMG: PS3,PM2,PP1,PP5; Latour P et al. 2009. Am J Hum Genet 86: 77-82 - - rs267606621 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT Pat-AARS-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-AARS-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-AARS-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-AARS-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-AARS-e PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIII1 PubMed: Latour 2010 4-generation family, 23 affected - - France - - 0 - - 23 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam2PatII1 PubMed: Latour 2010 3-generation family, 5 affected - - France - - 0 - - 5 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIII3 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIII5 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIII6 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV1 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV2 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV3 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV4 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV5 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV7 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV8 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV9 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV10 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV11 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV12 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV13 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV16 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatV1 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatV2 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 not in 1086 control chromosomes PubMed: McLaughlin 2012 - - Germline yes 1/363 cases CMT - 0 - DNA SEQ - - CMT Fam1CMT243 PubMed: McLaughlin 2012 4-generation family, 9 affected - - Australia - - 0 - - 9 Johan den Dunnen
?/. - c.988C>T r.(?) p.(Arg330Ter) Unknown - VUS g.70302257G>A g.70268354G>A AARS(NM_001605.2):c.988C>T (p.R330*) - AARS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>T r.(?) p.(Tyr334=) Unknown - likely benign g.70302243G>A g.70268340G>A AARS(NM_001605.2):c.1002C>T (p.Y334=) - AARS_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1009G>A r.(?) p.(Glu337Lys) Parent #1 - pathogenic (dominant) g.70302236C>T g.70268333C>T - - AARS_000068 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamH19PatIII3 PubMed: Weterman 2018 4-generation family, 6 affected (2F, 4M) M - - - - 0 - - 6 Johan den Dunnen
+/. - c.1009G>A r.(?) p.(Glu337Lys) Parent #1 - pathogenic (dominant) g.70302236C>T g.70268333C>T - - AARS_000068 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamH19PatIII4 PubMed: Weterman 2018 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.1009G>A r.(?) p.(Glu337Lys) Paternal (confirmed) - pathogenic (dominant) g.70302236C>T g.70268333C>T - - AARS_000068 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamH19PatIV1 PubMed: Weterman 2018 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.1009G>A r.(?) p.(Glu337Lys) Paternal (confirmed) - pathogenic (dominant) g.70302236C>T g.70268333C>T - - AARS_000068 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamH19PatIV2 PubMed: Weterman 2018 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.1009G>A r.(?) p.(Glu337Lys) Paternal (confirmed) - pathogenic (dominant) g.70302236C>T g.70268333C>T - - AARS_000068 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamH19PatIV3 PubMed: Weterman 2018 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.1009G>A r.(?) p.(Glu337Lys) Maternal (confirmed) - pathogenic (dominant) g.70302236C>T g.70268333C>T - - AARS_000068 function analysed used yeast complementation assay and zebra fish embryo injections PubMed: Weterman 2018 - - Germline - - - 0 - DNA SEQ - - CMT FamH19PatIV5 PubMed: Weterman 2018 - M - - - - 0 - - 1 Johan den Dunnen
?/. - c.1019A>G r.(?) p.(Asn340Ser) Unknown - VUS g.70302226T>C g.70268323T>C AARS(NM_001605.2):c.1019A>G (p.N340S) - AARS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1019A>G r.(?) p.(Asn340Ser) Unknown - VUS g.70302226T>C g.70268323T>C AARS(NM_001605.2):c.1019A>G (p.N340S) - AARS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1019A>G r.(?) p.(Asn340Ser) Unknown - likely pathogenic (dominant) g.70302226T>C g.70268323T>C - - AARS_000018 - PubMed: Sevy 2016 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 298 gene panel neuromuscular disease MPD Pat6 PubMed: Sevy 2016, PubMed: Cerino 2020 - F - France - - 0 - - 1 Mathieu Cerino
-?/. - c.1028G>C r.(?) p.(Arg343Thr) Unknown - likely benign g.70302217C>G - AARS(NM_001605.2):c.1028G>C (p.R343T) - AARS_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093A>G r.(?) p.(Lys365Glu) Unknown - VUS g.70301691T>C g.70267788T>C AARS(NM_001605.2):c.1093A>G (p.K365E) - AARS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1102C>T r.(?) p.(Pro368Ser) Unknown - VUS g.70301682G>A g.70267779G>A AARS(NM_001605.2):c.1102C>T (p.P368S) - AARS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1102C>T r.(?) p.(Pro368Ser) Unknown - VUS g.70301682G>A g.70267779G>A AARS(NM_001605.2):c.1102C>T (p.P368S) - AARS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1156C>G r.(?) p.(Leu386Val) Unknown - VUS g.70301628G>C g.70267725G>C - - AARS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1223-34dup r.(=) p.(=) Parent #1 - VUS g.70299599dup g.70265696dup - - AARS_000010 no impact on splice site - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1332G>A r.(?) p.(Glu444=) Unknown - benign g.70299456C>T g.70265553C>T AARS(NM_001605.2):c.1332G>A (p.E444=) - AARS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1332G>A r.(?) p.(Glu444=) Unknown - benign g.70299456C>T g.70265553C>T AARS(NM_001605.2):c.1332G>A (p.E444=) - AARS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1332G>A r.(?) p.(Glu444=) Unknown - likely benign g.70299456C>T g.70265553C>T AARS(NM_001605.2):c.1332G>A (p.E444=) - AARS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1347+21A>G r.(=) p.(=) Unknown - benign g.70299420T>C g.70265517T>C AARS(NM_001605.2):c.1347+21A>G - AARS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1404C>T r.(=) p.(=) Parent #1 - benign g.70298949G>A g.70265046G>A - - AARS_000007 no impact on AS or splicing - - rs117598688 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.1404C>T r.(?) p.(Tyr468=) Unknown - benign g.70298949G>A g.70265046G>A AARS(NM_001605.2):c.1404C>T (p.Y468=) - AARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1417C>T r.(?) p.(Leu473Phe) Unknown - VUS g.70298936G>A g.70265033G>A - - AARS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1428G>C r.(?) p.(Arg476=) Unknown - likely benign g.70298925C>G g.70265022C>G AARS(NM_001605.2):c.1428G>C (p.R476=) - AARS_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1532G>A r.(?) p.(Arg511Lys) Both (homozygous) - pathogenic g.70296388C>T g.70262485C>T - - AARS_000009 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.1632C>T r.(?) p.(Asp544=) Unknown - likely benign g.70296288G>A g.70262385G>A AARS(NM_001605.2):c.1632C>T (p.D544=) - AARS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1645G>A r.(?) p.(Val549Met) Unknown - VUS g.70296275C>T g.70262372C>T - - AARS_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1647G>A r.(?) p.(=) Unknown - likely pathogenic (dominant) g.70296273C>T g.70262370C>T - - AARS_000060 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.1672-125_1672-124insTG r.(=) p.(=) Parent #1 - VUS g.70295184_70295185insCA g.70261281_70261282insCA - - AARS_000006 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.1672-4T>A r.spl? p.? Unknown - likely benign g.70295064A>T g.70261161A>T AARS(NM_001605.2):c.1672-4T>A - AARS_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1672-4T>A r.spl? p.? Unknown - likely benign g.70295064A>T - AARS(NM_001605.2):c.1672-4T>A - AARS_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1685C>T r.(?) p.(Thr562Ile) Unknown - benign g.70295047G>A g.70261144G>A AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)) - AARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1685C>T r.(?) p.(Thr562Ile) Unknown - likely benign g.70295047G>A g.70261144G>A AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)) - AARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1685C>T r.(?) p.(Thr562Ile) Unknown - likely benign g.70295047G>A g.70261144G>A AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)) - AARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1685C>T r.(?) p.(Thr562Ile) Unknown - likely benign g.70295047G>A g.70261144G>A AARS(NM_001605.2):c.1685C>T (p.T562I, p.(Thr562Ile)) - AARS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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