Full data view for gene WARS

NOTE: gene name changed from WARS to WARS1
Information The variants shown are described using the NM_004184.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.-73-7A>C r.(=) p.(=) Unknown - likely benign g.100835602T>G g.100369265T>G WARS(NM_004184.3):c.-73-7A>C (p.(=)) - WARS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1A>G r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.100835522T>C g.100369185T>C - - WARS_000010 - PubMed: Lin 2022 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing ? Fam1Ind1 PubMed: Lin 2022 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Barbara Vona
+?/. - c.1A>G r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.100835522T>C g.100369185T>C - - WARS_000010 - PubMed: Lin 2022 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing ? Fam1Ind2 PubMed: Lin 2022 sister F yes Pakistan - - - - - 1 Barbara Vona
-/. - c.25C>G r.(?) p.(Leu9Val) Unknown - benign g.100835498G>C g.100369161G>C WARS1(NM_004184.4):c.25C>G (p.L9V) - WARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25C>G r.(?) p.(Leu9Val) Unknown - likely benign g.100835498G>C - WARS1(NM_004184.4):c.25C>G (p.L9V) - WARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160G>T r.(?) p.(Ala54Ser) Unknown - likely benign g.100828198C>A g.100361861C>A WARS1(NM_004184.4):c.160G>T (p.A54S) - WARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.162G>A r.(?) p.(Ala54=) Unknown - benign g.100828196C>T g.100361859C>T WARS1(NM_004184.4):c.162G>A (p.A54=) - WARS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.241_242delinsAT r.(?) p.(Asp81Ile) Unknown ACMG likely pathogenic (dominant) g.33276330_33276331delinsAT g.32810729_32810730delinsAT 241_242delGAinsAT - YARS_000004 - PubMed: Nam 2022 - rs786204003 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC415 PubMed: Nam 2022 3-generation family, 1 affected M - Korea - - - - - 1 Johan den Dunnen
+?/. - c.395C>T r.(?) p.(Thr132Ile) Unknown ACMG pathogenic (dominant) g.140059374G>A g.140679789G>A - - HARS_000021 - PubMed: Nam 2022 - rs143473232 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC1086 PubMed: Nam 2022 2-generation family, affected mother/daughter F - Korea - - - - - 2 Johan den Dunnen
+/. 4 c.413T>A r.(?) p.(Phe138Tyr) Unknown - pathogenic (dominant) g.100826900A>T g.100360563A>T - - WARS_000012 - PubMed: Li 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES HMN patient PubMed: Li 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China Han - - - - 1 Johan den Dunnen
+?/. - c.484C>T r.(?) p.(Arg162Trp) Unknown - likely pathogenic g.100820842G>A - WARS1(NM_004184.4):c.484C>T (p.R162W) - WARS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.484C>T r.(?) p.(Arg162Trp) Unknown - VUS g.100820842G>A - WARS1(NM_004184.4):c.484C>T (p.R162W) - WARS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.497A>G r.(?) p.(Tyr166Cys) Maternal (confirmed) ACMG likely pathogenic (dominant) g.33272096T>C g.32806495T>C - - WARS_000001 - PubMed: Nam 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC301 PubMed: Nam 2022 2-generation family, affected mother/son F;M - Korea - - - - - 2 Johan den Dunnen
+/. - c.497A>G r.(?) p.(Tyr166Cys) Unknown ACMG likely pathogenic (dominant) g.33272096T>C g.32806495T>C - - WARS_000001 - PubMed: Nam 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC633 PubMed: Nam 2022 2-generation family, 1 affected M - Korea - - - - - 1 Johan den Dunnen
+?/. - c.598G>A r.(?) p.(Asp200Asn) Paternal (confirmed) ACMG pathogenic (dominant) g.30642678G>A g.30603062G>A - - WARS_000001 - PubMed: Nam 2022 - rs1554337369 Germline - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC377 PubMed: Nam 2022 4-generation family, affected father/daughter F;M - Korea - - - - - 2 Johan den Dunnen
+/. - c.751G>A r.(?) p.(Val251Met) Unknown ACMG likely pathogenic (dominant) g.100813158C>T g.100346821C>T - - WARS_000019 - PubMed: Nam 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC862 PubMed: Nam 2022 3-generation family, 1 affected M - Korea - - - - - 1 Johan den Dunnen
+/. - c.770A>G r.(?) p.(His257Arg) Paternal (inferred) - pathogenic (dominant) g.100813139T>C g.100346802T>C - - WARS_000018 not in 2224 control chromosomes PubMed: Tsai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HMN FamAPatII3 PubMed: Tsai 2017 3-generation family, 6 affected (3F, 3M) M - Taiwan China;Han - - - - 3 Johan den Dunnen
+/. - c.770A>G r.(?) p.(His257Arg) Paternal (confirmed) - pathogenic (dominant) g.100813139T>C g.100346802T>C - - WARS_000018 not in 2224 control chromosomes PubMed: Tsai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HMN FamAPatIII2 PubMed: Tsai 2017 daughter F - Taiwan China;Han - - - - 1 Johan den Dunnen
+/. - c.770A>G r.(?) p.(His257Arg) Paternal (confirmed) - pathogenic (dominant) g.100813139T>C g.100346802T>C - - WARS_000018 not in 2224 control chromosomes PubMed: Tsai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HMN FamAPatIII3 PubMed: Tsai 2017 son M - Taiwan China;Han - - - - 1 Johan den Dunnen
+/. - c.770A>G r.(?) p.(His257Arg) Unknown - pathogenic (dominant) g.100813139T>C g.100346802T>C - - WARS_000018 not in 2224 control chromosomes PubMed: Tsai 2017 - - Germline - - - - - DNA SEQ - - HMN FamBPaII2 PubMed: Tsai 2017 3-generation family, 3 affected (3M) M - Taiwan - - - - - 3 Johan den Dunnen
+/. - c.770A>G r.(?) p.(His257Arg) Paternal (confirmed) - pathogenic (dominant) g.100813139T>C g.100346802T>C - - WARS_000018 not in 2224 control chromosomes PubMed: Tsai 2017 - - Germline - - - - - DNA SEQ - - HMN FamBPaIII1 PubMed: Tsai 2017 son M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.770A>G r.(?) p.(His257Arg) Paternal (confirmed) - pathogenic (dominant) g.100813139T>C g.100346802T>C - - WARS_000018 not in 2224 control chromosomes PubMed: Tsai 2017 - - Germline - - - - - DNA SEQ - - HMN FamBPaIII2 PubMed: Tsai 2017 son M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.770A>G r.(?) p.(His257Arg) Paternal (inferred) - pathogenic (dominant) g.100813139T>C g.100346802T>C - - WARS_000018 - PubMed: Tsai 2017 - - Germline - - - - - DNA SEQ - - HMN FamCPatII1 PubMed: Tsai 2017 2-generation family, 3 affected (F, 2M) F - Belgium white - - - - 1 Johan den Dunnen
+?/. - c.794C>T r.(?) p.(Ser265Phe) Maternal (confirmed) ACMG pathogenic (dominant) g.30649259C>T g.30609643C>T - - WARS_000002 - PubMed: Nam 2022 - rs1554337974 Germline - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC145 PubMed: Nam 2022 2-generation family, affected mother/2 sons F;M - Korea - - - - - 3 Johan den Dunnen
-/. - c.801C>T r.(?) p.(=) Unknown - benign g.100813108G>A - WARS1(NM_173701.2):c.801C>T (p.F267=) - WARS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.826+6A>G r.(=) p.(=) Unknown - benign g.100813077T>C g.100346740T>C WARS1(NM_004184.4):c.826+6A>G - WARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.941A>G r.(?) p.(Asp314Gly) Unknown - likely pathogenic (dominant) g.100808907T>C g.100342570T>C - - WARS_000017 ACMG PM1, PM2, PP1, PP3, PP4 PubMed: Wang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HMN FamPatI1 PubMed: Wang 2019 3-generation family, 5 affected (2F, 3M) M - China Han - - - - 5 Johan den Dunnen
+?/. - c.941A>G r.(?) p.(Asp314Gly) Paternal (confirmed) - likely pathogenic (dominant) g.100808907T>C g.100342570T>C - - WARS_000017 ACMG PM1, PM2, PP1, PP3, PP4 PubMed: Wang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HMN FamPatII1 PubMed: Wang 2019 son M - China Han - - - - 1 Johan den Dunnen
+?/. - c.941A>G r.(?) p.(Asp314Gly) Paternal (confirmed) - likely pathogenic (dominant) g.100808907T>C g.100342570T>C - - WARS_000017 ACMG PM1, PM2, PP1, PP3, PP4 PubMed: Wang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HMN FamPatII3 PubMed: Wang 2019 son M - China Han - - - - 1 Johan den Dunnen
+?/. - c.941A>G r.(?) p.(Asp314Gly) Paternal (confirmed) - likely pathogenic (dominant) g.100808907T>C g.100342570T>C - - WARS_000017 ACMG PM1, PM2, PP1, PP3, PP4 PubMed: Wang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HMN FamPatIII1 PubMed: Wang 2019 granddaughter F - China Han - - - - 1 Johan den Dunnen
+?/. - c.941A>G r.(?) p.(Asp314Gly) Paternal (confirmed) - likely pathogenic (dominant) g.100808907T>C g.100342570T>C - - WARS_000017 ACMG PM1, PM2, PP1, PP3, PP4 PubMed: Wang 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HMN FamPatIII2 PubMed: Wang 2019 granddaughter F - China Han - - - - 1 Johan den Dunnen
?/. - c.970G>A r.(?) p.(Ala324Thr) Unknown - VUS g.100808878C>T - - - WARS_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.986G>A r.(?) p.(Arg329His) Parent #1 ACMG pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Nam 2022 - rs267606621 Germline - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC1065 PubMed: Nam 2022 4-generation family, 8 affected (2F, 6M) F;M - Korea - - - - - 8 Johan den Dunnen
-/. - c.989C>T r.(?) p.(Pro330Leu) Unknown - benign g.100808859G>A - WARS1(NM_173701.2):c.989C>T (p.P330L) - WARS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.997G>A r.(?) p.(Ala333Thr) Parent #2 ACMG VUS g.100808851C>T g.100342514C>T - - WARS_000014 ACMG PM2, PP3, PP4 PubMed: Okamoto 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat1 PubMed: Okamoto 2022 - F - Japan - - - - - 1 Johan den Dunnen
-/. - c.1003C>T r.(?) p.(Leu335=) Unknown - benign g.100808845G>A g.100342508G>A WARS1(NM_004184.4):c.1003C>T (p.L335=) - WARS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1007C>A r.(?) p.(Pro336His) Parent #1 ACMG likely pathogenic (dominant) g.30651837C>A g.30612221C>A - - GARS_000068 - PubMed: Nam 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC825 PubMed: Nam 2022 4-generation family, 10 affected (5F, 5M) F;M - Korea - - - - - 10 Johan den Dunnen
+/. - c.1067A>T r.(?) p.(Asn356Ile) Unknown ACMG likely pathogenic (dominant) g.100808781T>A g.100342444T>A - - WARS_000016 - PubMed: Nam 2022 - rs756503817 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC885 PubMed: Nam 2022 2-generation family, 1 affected M - Korea - - - - - 1 Johan den Dunnen
-/. - c.1113+9T>C r.(=) p.(=) Unknown - benign g.100808726A>G - WARS1(NM_004184.4):c.1113+9T>C - WARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1147A>G r.(?) p.(Ser383Gly) Unknown ACMG likely pathogenic (dominant) g.140056286T>C g.140676701T>C - - WARS_000001 - PubMed: Nam 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC357 PubMed: Nam 2022 2-generation family, 1 affected M - Korea - - - - - 1 Johan den Dunnen
+?/. - c.1168C>T r.(?) p.(Arg390Cys) Unknown ACMG likely pathogenic (dominant) g.70301616G>A g.70267713G>A - - WARS_000001 - PubMed: Nam 2022 - rs759713590 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC1125 PubMed: Nam 2022 2-generation family, affected mother/son F;M - Korea - - - - - 2 Johan den Dunnen
-?/. - c.1230C>T r.(?) p.(Asp410=) Unknown - likely benign g.100803423G>A g.100337086G>A WARS1(NM_004184.4):c.1230C>T (p.D410=), WARS1(NM_173701.2):c.1230C>T (p.D410=) - WARS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1231G>A r.(?) p.(Asp411Asn) Unknown - likely benign g.100803422C>T - WARS1(NM_004184.4):c.1231G>A (p.D411N), WARS1(NM_173701.2):c.1231G>A (p.D411N) - WARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1231G>A r.(?) p.(Asp411Asn) Unknown - likely benign g.100803422C>T - WARS1(NM_004184.4):c.1231G>A (p.D411N), WARS1(NM_173701.2):c.1231G>A (p.D411N) - WARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1255-11C>T r.(=) p.(=) Unknown - benign g.100801384G>A g.100335047G>A WARS1(NM_004184.4):c.1255-11C>T - SLC25A47_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1255-11C>T r.(=) p.(=) Unknown - likely benign g.100801384G>A - WARS1(NM_004184.4):c.1255-11C>T - SLC25A47_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1255G>A r.(?) p.(Asp419Asn) Both (homozygous) ACMG VUS (!) g.100801373C>T g.100335036C>T - - WARS_000011 - PubMed: Lin 2022 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing ? Fam2Ind3 PubMed: Lin 2022 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 1 Barbara Vona
-?/. - c.1255G>A r.(?) p.(Asp419Asn) Unknown - likely benign g.100801373C>T - WARS1(NM_004184.4):c.1255G>A (p.D419N) - WARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1327G>T r.(?) p.(Ala443Ser) Unknown - likely benign g.100801301C>A g.100334964C>A - - WARS_000015 variant found in 1 unaffected individual and reported in controls PubMed: Tsai 2017 - rs139914390 Germline - - - - - DNA SEQ - - HMN FamBPaII2 PubMed: Tsai 2017 3-generation family, 3 affected (3M) M - Taiwan - - - - - 3 Johan den Dunnen
-?/. - c.1327G>T r.(?) p.(Ala443Ser) Paternal (confirmed) - likely benign g.100801301C>A g.100334964C>A - - WARS_000015 variant found in 1 unaffected individual and reported in controls PubMed: Tsai 2017 - rs139914390 Germline - - - - - DNA SEQ - - HMN FamBPaIII1 PubMed: Tsai 2017 son M - Taiwan - - - - - 1 Johan den Dunnen
-?/. - c.1327G>T r.(?) p.(Ala443Ser) Paternal (confirmed) - likely benign g.100801301C>A g.100334964C>A - - WARS_000015 variant found in 1 unaffected individual and reported in controls PubMed: Tsai 2017 - rs139914390 Germline - - - - - DNA SEQ - - HMN FamBPaIII2 PubMed: Tsai 2017 son M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1342C>T r.(?) p.(Arg448Trp) Parent #1 ACMG VUS g.100801286G>A g.100334949G>A - - WARS_000013 ACMG PM2, PP3, PP4 PubMed: Okamoto 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat1 PubMed: Okamoto 2022 - F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.2171C>A r.(?) p.(Pro724His) Unknown ACMG likely pathogenic (dominant) g.30673427C>A g.30633811C>A - - WARS_000003 - PubMed: Nam 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT FamFC855 PubMed: Nam 2022 2-generation family, 1 affected M - Korea - - - - - 1 Johan den Dunnen
-?/. - c.*5234G>A r.(=) p.(=) Unknown - likely benign g.100795978C>T g.100329641C>T SLC25A47(NM_207117.2):c.923C>T (p.(Thr308Ile)) - SLC25A47_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5837G>A r.(=) p.(=) Unknown - likely benign g.100795375C>T g.100329038C>T SLC25A47(NM_207117.2):c.640C>T (p.(Arg214Trp)) - SLC25A47_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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