Full data view for gene YARS2

Information The variants shown are described using the NM_001040436.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.-153G>C r.(=) p.(=) Parent #1 - benign g.32908961C>G g.32756027C>G - - YARS2_000004 - - - rs3827883 Germline - frequency 3-19% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.8C>T r.(?) p.(Ala3Val) Unknown - VUS g.32908801G>A - YARS2(NM_001040436.3):c.8C>T (p.(Ala3Val)) - YARS2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104C>A r.(?) p.(Ala35Asp) Unknown - likely benign g.32908705G>T - YARS2(NM_001040436.2):c.104C>A (p.(Ala35Asp)) - YARS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.137G>A r.137g>a p.Gly46Asp Both (homozygous) - pathogenic g.32908672C>T g.32755738C>T n.216G>A - YARS2_000006 0/100 controls - - - Germline - - - - - DNA, RNA SEQ - - MLASA2 - - - - - Lebanon Lebanese - - - - 1 Isabelle Thiffault
+/. - c.137G>A r.(?) p.(Gly46Asp) Both (homozygous) - pathogenic (recessive) g.32908672C>T g.32755738C>T - - YARS2_000006 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat22 PubMed: Kemp 2011, PubMed: Taylor 2014 - M yes Lebanon - 37y - - - 1 Johan den Dunnen
+/? 1 c.156C>G r.(?) p.(Phe52Leu) Paternal (confirmed) - pathogenic g.32908653G>C g.32755719G>C F52L - YARS2_000005 - PubMed: Riley 2010 - - Germline - - - - - DNA SEQ - - MLASA2 - PubMed: Riley 2010 - M yes Lebanon Lebanese - - - - 1 LOVD
+/? 1 c.156C>G r.(?) p.(Phe52Leu) Maternal (confirmed) - pathogenic g.32908653G>C g.32755719G>C F52L - YARS2_000005 - PubMed: Riley 2010 - - Germline - - - - - DNA SEQ - - MLASA2 - PubMed: Riley 2010 - M yes Lebanon Lebanese - - - - 1 LOVD
+/? 1 c.156C>G r.(?) p.(Phe52Leu) Paternal (confirmed) - pathogenic g.32908653G>C g.32755719G>C F52L - YARS2_000005 - PubMed: Riley 2010 - - Germline - - - - - DNA SEQ - - MLASA2 - PubMed: Riley 2010 Sister of II:2 F yes Lebanon Lebanese - - - - 1 LOVD
+/? 1 c.156C>G r.(?) p.(Phe52Leu) Maternal (confirmed) - pathogenic g.32908653G>C g.32755719G>C F52L - YARS2_000005 - PubMed: Riley 2010 - - Germline - - - - - DNA SEQ - - MLASA2 - PubMed: Riley 2010 Sister of II:2 F yes Lebanon Lebanese - - - - 1 LOVD
+/? 1 c.156C>G r.(?) p.(Phe52Leu) Parent #1 - pathogenic g.32908653G>C g.32755719G>C F52L - YARS2_000005 - PubMed: Riley 2010 - - Germline - - - - - DNA SEQ - - - - PubMed: Riley 2010 parents of II:2 and II:3, the parents are first cousins ? yes Lebanon Lebanese - - - - 2 LOVD
+/? 1 c.156C>G r.(?) p.(Phe52Leu) Paternal (inferred) - pathogenic g.32908653G>C g.32755719G>C F52L - YARS2_000005 - PubMed: Riley 2010 - - Germline - - - - - DNA SEQ - - MLASA2 - PubMed: Riley 2010 A maternal aunt is said to have had transfusion-dependent sideroblastic anemia and a skeletal myopathy, but never had a muscle biopsy. Brothers & sisters are healthy F yes Lebanon Lebanese - - - - 1 LOVD
+/? 1 c.156C>G r.(?) p.(Phe52Leu) Maternal (inferred) - pathogenic g.32908653G>C g.32755719G>C F52L - YARS2_000005 - PubMed: Riley 2010 - - Germline - - - - - DNA SEQ - - MLASA2 - PubMed: Riley 2010 A maternal aunt is said to have had transfusion-dependent sideroblastic anemia and a skeletal myopathy, but never had a muscle biopsy. Brothers & sisters are healthy F yes Lebanon Lebanese - - - - 1 LOVD
-/. - c.291C>T r.(=) p.(=) Parent #1 - benign g.32908518G>A g.32755584G>A - - YARS2_000003 - - - rs11539444 Germline - frequency 10-19% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.291C>T r.(?) p.(Gly97=) Unknown - benign g.32908518G>A g.32755584G>A - - YARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.360dup - - Parent #1 - pathogenic g.32908449dup g.32755516dup - - YARS2_000012 5 heterozygous, no homozygous; Clinindb (India) Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs797045077 Germline - 5/2764 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.535A>C r.(?) p.(Lys179Gln) Unknown - likely benign g.32908274T>G g.32755340T>G YARS2(NM_001040436.2):c.535A>C (p.K179Q), YARS2(NM_001040436.3):c.535A>C (p.(Lys179Gln)) - YARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.535A>C r.(?) p.(Lys179Gln) Unknown - likely benign g.32908274T>G - YARS2(NM_001040436.2):c.535A>C (p.K179Q), YARS2(NM_001040436.3):c.535A>C (p.(Lys179Gln)) - YARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.572G>T r.(=) p.(Gly191Val) Parent #1 - benign g.32908237C>A g.32755303C>A - - YARS2_000002 - - - rs11539445 Germline - frequency 10-16% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.572G>T r.(?) p.(Gly191Val) Unknown - VUS g.32908237C>A - - - YARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.572G>T r.(?) p.(Gly191Val) Parent #1 - pathogenic (recessive) g.32908237C>A - - - YARS2_000002 - PubMed: Zehravi 2021 - - Germline - - - - - DNA SEQ-NG-I Blood WES RMD2;LGMD1C Patient 1 PubMed: Zehravi 2021 - M yes Pakistan Asian - - Yes No 1 Mehwish Zehravi
+/. - c.572G>T r.(?) p.(Gly191Val) Parent #1 - pathogenic (recessive) g.32908237C>A - - - YARS2_000002 - PubMed: Zehravi 2021 - - Germline - - - - - DNA SEQ-NG-I Blood WES RMD2;LGMD1C Patient 3 PubMed: Zehravi 2021 - M yes Pakistan Asian - - Yes None 1 Mehwish Zehravi
?/. - c.655T>G r.(?) p.(Phe219Val) Unknown - VUS g.32908154A>C g.32755220A>C - - YARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.820_823del r.(?) p.(Ile274Glnfs*18) Unknown - pathogenic g.32906978_32906981del - - - YARS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930G>A r.(?) p.(Pro310=) Unknown - likely benign g.32906869C>T - YARS2(NM_001040436.3):c.930G>A (p.P310=) - YARS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.933C>G r.(?) p.(Asp311Glu) Both (homozygous) - pathogenic (recessive) g.32906866G>C g.32753932G>C - - YARS2_000031 - PubMed: Ardissone 2016 - - Germline yes - - - - DNA SEQ - - MYOP patient PubMed: Ardissone 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M no Italy - - - - - 2 Johan den Dunnen
+?/. - c.933C>G r.(?) p.(Asp311Glu) Unknown - likely pathogenic g.32906866G>C - - - YARS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1028G>A r.(?) p.(Arg343Gln) Unknown - VUS g.32903728C>T - YARS2(NM_001040436.3):c.1028G>A (p.(Arg343Gln)) - YARS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1270C>T r.(?) p.(Arg424*) Unknown - pathogenic g.32902875G>A - YARS2(NM_001040436.2):c.1270C>T (p.R424*) - YARS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1271G>A r.(?) p.(Arg424Gln) Unknown - VUS g.32902874C>T g.32749940C>T - - YARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1356A>G r.(?) p.(Gln452=) Unknown - benign g.32900216T>C - YARS2(NM_001040436.3):c.1356A>G (p.Q452=) - YARS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*209G>C r.(=) p.(=) Parent #1 - benign g.32899929C>G g.32746995C>G - - YARS2_000001 - - - rs10844337 Germline - frequency 5-33% - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.*4598A>G r.(=) p.(=) Unknown - VUS g.32895540T>C - DNM1L(NM_012062.5):c.2012T>C (p.M671T) - YARS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4605C>T r.(=) p.(=) Unknown - VUS g.32895533G>A - DNM1L(NM_012062.5):c.2005G>A (p.(Ala669Thr)) - YARS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6976G>A r.(=) p.(=) Unknown - likely benign g.32893162C>T - DNM1L(NM_012062.5):c.1872C>T (p.N624=) - YARS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7014T>A r.(=) p.(=) Unknown - likely benign g.32893124A>T g.32740190A>T DNM1L(NM_001278464.1):c.1873A>T (p.I625F) - YARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7124C>T r.(=) p.(=) Unknown - VUS g.32893014G>A - DNM1L(NM_012062.5):c.1724G>A (p.G575D) - YARS2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9285C>T r.(=) p.(=) Unknown - VUS g.32890853G>A - DNM1L(NM_001278464.1):c.1690G>A (p.(Ala551Thr)) - YARS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9291G>A r.(=) p.(=) Unknown - VUS g.32890847C>T - DNM1L(NM_012062.5):c.1645C>T (p.(Pro549Ser)) - YARS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*13401A>G r.(=) p.(=) Unknown - VUS g.32886737T>C - DNM1L(NM_001278464.1):c.1574T>C (p.I525T) - DNM1L_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*15687C>T r.(=) p.(=) Unknown - likely benign g.32884451G>A g.32731517G>A DNM1L(NM_001278463.1):c.1356+6G>A (p.(=)) - DNM1L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*15780A>T r.(=) p.(=) Unknown - likely benign g.32884358T>A - DNM1L(NM_001278464.1):c.1308T>A (p.R436=) - YARS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*15809C>T r.(=) p.(=) Unknown - likely pathogenic g.32884329G>A - DNM1L(NM_012062.5):c.1240G>A (p.E414K) - YARS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*15842G>A r.(=) p.(=) Unknown - likely pathogenic g.32884296C>T g.32731362C>T DNM1L(NM_001278464.2):c.1246C>T (p.R416C) - DNM1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*15842G>A r.(=) p.(=) Unknown - pathogenic g.32884296C>T g.32731362C>T DNM1L(NM_001278464.2):c.1246C>T (p.R416C) - DNM1L_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16177T>C r.(=) p.(=) Unknown - VUS g.32883961A>G - DNM1L(NM_001278464.1):c.1132A>G (p.R378G) - YARS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*24561T>C r.(=) p.(=) Unknown - likely benign g.32875577A>G - DNM1L(NM_001278464.1):c.1118+10A>G - YARS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*24657A>G r.(=) p.(=) Unknown - likely benign g.32875481T>C - DNM1L(NM_001278464.1):c.1032T>C (p.A344=) - YARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*24670T>G r.(=) p.(=) Unknown - likely benign g.32875468A>C - DNM1L(NM_001278464.1):c.1019A>C (p.D340A) - YARS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*24684G>A r.(=) p.(=) Unknown - likely benign g.32875454C>T - DNM1L(NM_001278464.1):c.1005C>T (p.Y335=) - YARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*24726T>C r.(=) p.(=) Unknown - VUS g.32875412A>G g.32722478A>G DNM1L(NM_001278464.1):c.963A>G (p.I321M) - DNM1L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*26414T>C r.(=) p.(=) Unknown - likely benign g.32873724A>G - DNM1L(NM_001278464.1):c.906A>G (p.L302=) - YARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*26493C>T r.(=) p.(=) Unknown - VUS g.32873645G>A - DNM1L(NM_012062.5):c.788G>A (p.(Arg263His)) - YARS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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