Full data view for gene WARS2

Information The variants shown are described using the NM_015836.3 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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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     
?/. 1 c.37T>G r.(?) p.(Trp13Gly) Maternal (confirmed) - VUS g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MRT Fam2PatV7 PubMed: Musante 2017, Journal: Musante 2017 6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Iran Iran (Semnan province) - - - - 3 Luciana Musante
?/. 1 c.37T>G r.(?) p.(Trp13Gly) Maternal (confirmed) - VUS g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - - - DNA SEQ - WES MRT Fam2PatV8 PubMed: Musante 2017, Journal: Musante 2017 sister F yes Iran Iran (Semnan province) - - - - 1 Luciana Musante
+?/. - c.37T>G r.(?) p.(Trp13Gly) Unknown - likely pathogenic g.119683231A>C - WARS2(NM_015836.4):c.37T>G (p.(Trp13Gly), p.W13G), WARS2(NM_201263.2):c.37T>G (p.W13G) - WARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.37T>G r.(?) p.(Trp13Gly) Unknown - pathogenic g.119683231A>C - WARS2(NM_015836.4):c.37T>G (p.(Trp13Gly), p.W13G), WARS2(NM_201263.2):c.37T>G (p.W13G) - WARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.37T>G r.(?) p.(Trp13Gly) Paternal (confirmed) - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat1 PubMed: Skorvanek 2022 2-generation family, 2 affected, unaffected heterozygous carrier father M - Slovakia (Slovak Republic) - - - - - 2 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Paternal (confirmed) - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat2 PubMed: Skorvanek 2022 sister F - Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Paternal (confirmed) - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2Pat3 PubMed: Skorvanek 2022 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Czech Republic - - - - - 2 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Paternal (confirmed) - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2Pat4 PubMed: Skorvanek 2022 brother M - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Maternal (confirmed) - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3Pat5 PubMed: Skorvanek 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Maternal (confirmed) - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam4Pat6 PubMed: Skorvanek 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Maternal (confirmed) - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Vantroys 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Burke 2018 - M - - Europe - - - - 1 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Paternal (confirmed) - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Virdee 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Hubers 2019 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Parent #1 - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 - PubMed: Martinelli 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PatAV07 PubMed: Martinelli 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.37T>G r.(?) p.(Trp13Gly) Unknown - pathogenic (!) g.119683231A>C g.119140608A>C - - WARS2_000007 hypomorphic variant; 6 apparently healthy homozygous carriers in gnomAD; to date all individuals with a childhood- or early adulthood-onset movement disorder have this hypomorphic in trans with a WARS2 pathogenic variant - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.37T>G r.(?) p.(Trp13Gly) Unknown - likely pathogenic g.119683231A>C - WARS2(NM_015836.4):c.37T>G (p.(Trp13Gly), p.W13G), WARS2(NM_201263.2):c.37T>G (p.W13G) - WARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.90+16613T>C r.(=) p.(=) Both (homozygous) - VUS g.119666565A>G g.119123942A>G - - WARS2_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.91-8867dup r.(=) p.(=) Unknown - VUS g.119628103dup g.119085480dup - - WARS2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.91-8867dup r.(=) p.(=) Unknown - VUS g.119628103dup g.119085480dup - - WARS2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i_2i c.91-8725_348+2711del r.(?) p.(Lys31_Gln116del) Paternal (confirmed) - pathogenic g.119616262_119627955del g.119073639_119085332del g.119591860_119627955del36096 - WARS2_000009 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - DNA SEQ-NG blood - ? FAM1PATII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Serbia Slowakia 00y00m23d - - - 1 Saskia Wortmann
+/. 1i_2i c.91-8725_348+2711del r.(91_348del) p.(Lys31_Gln116del) Maternal (inferred) - pathogenic (recessive) g.119616262_119627955del g.119073639_119085332del del ex2 - WARS2_000009 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat1 PubMed: Skorvanek 2022 2-generation family, 2 affected, unaffected heterozygous carrier father M - Slovakia (Slovak Republic) - - - - - 2 Johan den Dunnen
+/. 1i_2i c.91-8725_348+2711del r.(91_348del) p.(Lys31_Gln116del) Maternal (inferred) - pathogenic (recessive) g.119616262_119627955del g.119073639_119085332del del ex2 - WARS2_000009 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam1Pat2 PubMed: Skorvanek 2022 sister F - Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
?/. 1i c.91-8626G>A r.(=) p.(=) Unknown - VUS g.119627856C>T g.119085233C>T - - WARS2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.91-8626G>A r.(=) p.(=) Unknown - VUS g.119627856C>T g.119085233C>T - - WARS2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.91-7997G>A r.(=) p.(=) Unknown - VUS g.119627227C>T g.119084604C>T - - WARS2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 2 c.134G>T r.(?) p.(Gly45Val) Maternal (confirmed) - pathogenic (recessive) g.119619187C>A g.119076564C>A - - WARS2_000012 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - DNA SEQ - - ? Fam5PatIIi PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - >10y - - - 1 Saskia Wortmann
+/. - c.149G>A r.(?) p.(Gly50Asp) Paternal (confirmed) - pathogenic (recessive) g.119619172C>T g.119076549C>T - - WARS2_000023 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam3Pat5 PubMed: Skorvanek 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Switzerland - - - - - 1 Johan den Dunnen
+/. - c.149G>A r.(?) p.(Gly50Asp) Maternal (confirmed) - pathogenic (recessive) g.119619172C>T g.119076549C>T - - WARS2_000023 - PubMed: Hubers 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Hubers 2019 - M - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.231C>G r.(?) p.(His77Gln) Parent #1 - pathogenic (recessive) g.119619090G>C g.119076467G>C - - WARS2_000014 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - DNA SEQ-NG - - ? Fam3PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - 03y - - - 1 Saskia Wortmann
+/. - c.298_300del r.(?) p.(Leu100del) Paternal (confirmed) - pathogenic (recessive) g.119619021_119619023del - 298_300delCTT - WARS2_000016 - PubMed: Theisen 2017 - - Germline - - - - - DNA SEQ-NG - WES ? patient PubMed: Theisen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - 1 Johan den Dunnen
+/. - c.298_300del r.(?) p.(Leu100del) Maternal (confirmed) - pathogenic (recessive) g.119619026_119619028del g.119076403_119076405del 298_300delCTT - WARS2_000016 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2Pat3 PubMed: Skorvanek 2022 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Czech Republic - - - - - 2 Johan den Dunnen
+/. - c.298_300del r.(?) p.(Leu100del) Maternal (confirmed) - pathogenic (recessive) g.119619026_119619028del g.119076403_119076405del 298_300delCTT - WARS2_000016 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam2Pat4 PubMed: Skorvanek 2022 brother M - Czech Republic - - - - - 1 Johan den Dunnen
+?/. 2 c.325del r.(?) p.(Ser109Alafs*15) Paternal (confirmed) - likely pathogenic (recessive) g.119619001del g.119076378del 325delA - WARS2_000006 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES MRT Fam2PatV7 PubMed: Musante 2017, Journal: Musante 2017 6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Iran Iran (Semnan province) - - - - 3 Luciana Musante
+?/. 2 c.325del r.(?) p.(Ser109Alafs*15) Paternal (confirmed) - likely pathogenic (recessive) g.119619001del g.119076378del 325delA - WARS2_000006 - PubMed: Musante 2017, Journal: Musante 2017 - - Germline yes - - - - DNA SEQ - WES MRT Fam2PatV8 PubMed: Musante 2017, Journal: Musante 2017 sister F yes Iran Iran (Semnan province) - - - - 1 Luciana Musante
-?/. - c.452A>G r.(?) p.(His151Arg) Unknown - likely benign g.119584950T>C - WARS2(NM_015836.4):c.452A>G (p.H151R) - WARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.532G>C r.(?) p.(Val178Leu) Both (homozygous) - pathogenic (recessive) g.119576820C>G g.119034197C>G - - WARS2_000013 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - DNA SEQ-NG - - ? Fam4PatII3 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iraq - >03y - - - 1 Saskia Wortmann
+/. - c.622G>T r.(?) p.(Glu208Ter) Paternal (confirmed) - pathogenic (recessive) g.119576730C>A g.119034107C>A - - WARS2_000022 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam4Pat6 PubMed: Skorvanek 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - 1 Johan den Dunnen
+/. - c.679A>G r.(?) p.(Met227Val) Parent #2 - pathogenic (recessive) g.119575938T>C g.119033315T>C - - WARS2_000021 - PubMed: Martinelli 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? PatAV07 PubMed: Martinelli 2020 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.683C>G r.(?) p.(Ser228Trp) Paternal (confirmed) - pathogenic (recessive) g.119575934G>C g.119033311G>C - - WARS2_000020 - PubMed: Burke 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Burke 2018 - M - - Europe - - - - 1 Johan den Dunnen
?/. - c.740T>C r.(?) p.(Ile247Thr) Unknown - VUS g.119575877A>G - WARS2(NM_015836.3):c.740T>C (p.I247T) - WARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.797del r.(?) p.(Pro266Argfs*10) Paternal (confirmed) - pathogenic (recessive) g.119575822del g.119033199del 797delC - WARS2_000011 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline yes - - - - DNA SEQ-NG - - ? Fam2PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Netherlands - 03y06m - - - 2 Saskia Wortmann
+/. 6 c.797del r.(?) p.(Pro266Argfs*10) Paternal (confirmed) - pathogenic (recessive) g.119575822del g.119033199del 797delC - WARS2_000011 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline yes - - - - DNA SEQ-NG - - ? Fam2PatII2 PubMed: Wortmann 2017, Journal: Wortmann 2017 brother M - Netherlands - 1y6m - - - 1 Johan den Dunnen
+/. - c.797del r.(?) p.(Pro266Argfs*10) Unknown - pathogenic g.119575822del - WARS2(NM_015836.4):c.797delC (p.P266Rfs*10) - WARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797del r.(?) p.(Pro266ArgfsTer10) Parent #1 - pathogenic (recessive) g.119575822del g.119033199del - - WARS2_000011 - PubMed: Burke 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Virdee 2019 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.797delC r.(?) p.(Pro266ArgfsTer10) Maternal (confirmed) - pathogenic (recessive) g.119575822del g.119033199del 797delC - WARS2_000011 - PubMed: Skorvanek 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Vantroys 2018 - F - Belgium - 6y6m - - - 1 Johan den Dunnen
+/. - c.833T>G r.(?) p.(Val278Gly) Maternal (confirmed) - pathogenic (recessive) g.119575784A>C g.119033161A>C - - WARS2_000019 - PubMed: Maffezzini 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPatII1 PubMed: Maffezzini 2019 2-generation family, 2 affected, unaffected heterozygous carrier father F - Sweden - - - - - 2 Johan den Dunnen
+/. - c.833T>G r.(?) p.(Val278Gly) Maternal (confirmed) - pathogenic (recessive) g.119575784A>C g.119033161A>C - - WARS2_000019 - PubMed: Maffezzini 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPatII2 PubMed: Maffezzini 2019 sister F - Sweden - - - - - 1 Johan den Dunnen
+/. 6 c.938A>T r.(?) p.(Lys313Met) Maternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline yes - - - - DNA SEQ-NG - - ? Fam2PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Netherlands - 03y06m - - - 2 Saskia Wortmann
+/. 6 c.938A>T r.(?) p.(Lys313Met) Paternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - DNA SEQ - - ? Fam5PatIIi PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Canada - >10y - - - 1 Saskia Wortmann
+/. 6 c.938A>T r.(?) p.(Lys313Met) Maternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline yes - - - - DNA SEQ-NG - - ? Fam2PatII2 PubMed: Wortmann 2017, Journal: Wortmann 2017 brother M - Netherlands - 1y6m - - - 1 Johan den Dunnen
+/. - c.938A>T r.(?) p.(Lys313Met) Maternal (confirmed) - pathogenic (recessive) g.119575679T>A - - - WARS2_000010 - PubMed: Theisen 2017 - - Germline - - - - - DNA SEQ-NG - WES ? patient PubMed: Theisen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - 1 Johan den Dunnen
+?/. - c.938A>T r.(?) p.(Lys313Met) Unknown - likely pathogenic g.119575679T>A - WARS2(NM_015836.3):c.938A>T (p.K313M), WARS2(NM_015836.4):c.938A>T (p.(Lys313Met), p.K313M) - WARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.938A>T r.(?) p.(Lys313Met) Unknown - pathogenic g.119575679T>A - WARS2(NM_015836.3):c.938A>T (p.K313M), WARS2(NM_015836.4):c.938A>T (p.(Lys313Met), p.K313M) - WARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.938A>T r.(?) p.(Lys313Met) Paternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Vantroys 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Vantroys 2018 - F - Belgium - 6y6m - - - 1 Johan den Dunnen
+/. - c.938A>T r.(?) p.(Lys313Met) Parent #2 - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Virdee 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Virdee 2019 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.938A>T r.(?) p.(Lys313Met) Paternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Maffezzini 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPatII1 PubMed: Maffezzini 2019 2-generation family, 2 affected, unaffected heterozygous carrier father F - Sweden - - - - - 2 Johan den Dunnen
+/. - c.938A>T r.(?) p.(Lys313Met) Paternal (confirmed) - pathogenic (recessive) g.119575679T>A g.119033056T>A - - WARS2_000010 - PubMed: Maffezzini 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPatII2 PubMed: Maffezzini 2019 sister F - Sweden - - - - - 1 Johan den Dunnen
+/. - c.938A>T r.(?) p.(Lys313Met) Unknown - pathogenic g.119575679T>A - WARS2(NM_015836.3):c.938A>T (p.K313M), WARS2(NM_015836.4):c.938A>T (p.(Lys313Met), p.K313M) - WARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1045G>C r.(?) p.(Val349Leu) Maternal (confirmed) - pathogenic (recessive) g.119575572C>G g.119032949C>G - - WARS2_000008 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - DNA SEQ-NG blood - ? FAM1PATII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Serbia Slowakia 00y00m23d - - - 1 Saskia Wortmann
+/. - c.1054G>A r.(?) p.(Glu352Lys) Parent #2 - pathogenic (recessive) g.119575563C>T - - - WARS2_000015 - PubMed: Wortmann 2017, Journal: Wortmann 2017 - - Germline - - - - - DNA SEQ-NG - - ? Fam3PatII1 PubMed: Wortmann 2017, Journal: Wortmann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - 03y - - - 1 Saskia Wortmann
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