Full data view for gene IARS2

Information The variants shown are described using the NM_018060.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.-4027400_*2459976del r.0? p.0? Unknown - likely pathogenic g.216240159_222780953del - chr1:g.216240159_222780953del - USH2A_000000 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001037 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-?/. - c.23G>T r.(?) p.(Arg8Leu) Unknown - likely benign g.220267581G>T - IARS2(NM_018060.3):c.23G>T (p.(Arg8Leu)) - BPNT1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.267+4C>T r.spl? p.? Unknown - VUS g.220267829C>T g.220094487C>T IARS2(NM_018060.3):c.267+4C>T (p.?) - IARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268-8dup r.(=) p.(=) Unknown - likely benign g.220269438dup - IARS2(NM_018060.4):c.268-8dup - IARS2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391-53_399del r.spl? p.? Unknown - VUS g.220273779_220273840del - IARS2(NM_018060.4):c.391-53_399del - IARS2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.551-3dup r.spl? p.? Unknown - VUS g.220275468dup - IARS2(NM_018060.4):c.551-3dup - IARS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.555A>T r.(?) p.(Arg185Ser) Unknown - VUS g.220275475A>T - IARS2(NM_018060.4):c.555A>T (p.(Arg185Ser)) - IARS2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.602G>A r.(?) p.(Arg201His) Unknown - VUS g.220275522G>A - IARS2(NM_018060.4):c.602G>A (p.(Arg201His)) - IARS2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.607G>C r.(?) p.(Gly203Arg) Paternal (confirmed) - likely pathogenic (dominant) g.220275527G>C g.220102185G>C - - IARS2_000020 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT FamPat6 PubMed: Li 2018 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
?/. - c.615G>T r.(?) p.(Met205Ile) Unknown - VUS g.220275535G>T - IARS2(NM_018060.4):c.615G>T (p.(Met205Ile)) - IARS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.680T>C r.(?) p.(Phe227Ser) Paternal (confirmed) - likely pathogenic (recessive) g.220275600T>C g.220102258T>C Phe227Ser - IARS2_000016 - PubMed: Takezawa 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPatII1 PubMed: Takezawa 2018 2-generation family, 2 sisters, unaffected heterozygous carrier parents F - Japan - - - - - 2 Johan den Dunnen
+?/. - c.680T>C r.(?) p.(Phe227Ser) Paternal (confirmed) - likely pathogenic (recessive) g.220275600T>C g.220102258T>C - - IARS2_000016 - PubMed: Takezawa 2018 - - Germline yes - - - - DNA SEQ - WES ? FamPatII2 PubMed: Takezawa 2018 sister F no Japan - - - - - 1 Johan den Dunnen
-?/. - c.699+9G>A r.(=) p.(=) Unknown - likely benign g.220275628G>A - IARS2(NM_018060.4):c.699+9G>A - IARS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.755C>T r.(?) p.(Ala252Val) Unknown - VUS g.220275842C>T - IARS2(NM_018060.4):c.755C>T (p.(Ala252Val)) - IARS2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016C>T r.(?) p.(Ser339Phe) Unknown - VUS g.220276854C>T - IARS2(NM_018060.3):c.1016C>T (p.(Ser339Phe)) - IARS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1186G>C r.(?) p.(Ala396Pro) Unknown - VUS g.220279352G>C - IARS2(NM_018060.4):c.1186G>C (p.(Ala396Pro)) - IARS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1382A>G r.(?) p.(His461Arg) Unknown - VUS g.220284182A>G - IARS2(NM_018060.4):c.1382A>G (p.(His461Arg)) - IARS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1641-9dup r.(=) p.(=) Unknown - likely benign g.220298570dup - IARS2(NM_018060.4):c.1641-9dup - IARS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1821G>A r.(?) p.(Trp607*) Paternal (confirmed) - likely pathogenic (recessive) g.220300169G>A g.220126827G>A - - IARS2_000005 - PubMed: Schwartzentruber 2014, OMIM:var0002 - - Germline - - - - - DNA, RNA SEQ - 1092 gene panel ? Fam2Pat4 PubMed: Schwartzentruber 2014 - M - United States white, Scandinavian 01y06m - - - 1 Johan den Dunnen
?/. - c.1829T>G r.(?) p.(Val610Gly) Unknown - VUS g.220300177T>G - IARS2(NM_018060.4):c.1829T>G (p.(Val610Gly)) - IARS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2122G>A r.(?) p.(Glu708Lys) Unknown - likely benign g.220311332G>A g.220137990G>A IARS2(NM_018060.3):c.2122G>A (p.(Glu708Lys)) - IARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.2122G>A r.(?) p.(Glu708Lys) Maternal (confirmed) - VUS g.220311332G>A g.220137990G>A - - IARS2_000002 - PubMed: Schwartzentruber 2014, OMIM:var0003 - rs143722284 Germline - - - - - DNA, RNA SEQ - 1092 gene panel ? Fam2Pat4 PubMed: Schwartzentruber 2014 - M - United States white, Scandinavian 01y06m - - - 1 Johan den Dunnen
-?/. - c.2192G>A r.(?) p.(Arg731His) Unknown - likely benign g.220312366G>A g.220139024G>A IARS2(NM_018060.3):c.2192G>A (p.(Arg731His)) - IARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.2282A>G r.(?) p.(His761Arg) Unknown - likely pathogenic (recessive) g.220312456A>G g.220139114A>G - - IARS2_000007 - PubMed: Vona 2018 - - Germline yes - - - - DNA SEQ-NG-I - - CAGSSS Fam2PatIV1 PubMed: Vona 2018 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 2 Barbara Vona
+?/. - c.2282A>G r.(?) p.(His761Arg) Both (homozygous) - likely pathogenic (recessive) g.220312456A>G g.220139114A>G - - IARS2_000007 - PubMed: Vona 2018 - - Germline yes - - - - DNA SEQ - - CAGSSS Fam2PatIV4 PubMed: Vona 2018 sister F - Iran - - - - - 1 Johan den Dunnen
?/. - c.2321A>G r.(?) p.(Tyr774Cys) Unknown - VUS g.220313538A>G - IARS2(NM_018060.4):c.2321A>G (p.(Tyr774Cys)) - IARS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2414G>T r.(?) p.(Arg805Met) Unknown - VUS g.220313631G>T - IARS2(NM_018060.4):c.2414G>T (p.(Arg805Met)) - IARS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2446C>T r.(?) p.(Arg816Ter) Maternal (confirmed) - pathogenic (recessive) g.220315176C>T g.220141834C>T - - IARS2_000021 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam10PatII1/2 PubMed: Li 2018 2-generation family, 2 affected brothers, unaffected heterozygous parents M - China - - - - - 2 Johan den Dunnen
+?/. - c.2449C>T r.(?) p.(Arg817Cys) Unknown - likely pathogenic g.220315179C>T - - - IARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2450G>A r.(?) p.(Arg817His) Maternal (confirmed) - likely pathogenic (recessive) g.220315180G>A g.220141838G>A - - IARS2_000017 - PubMed: Takezawa 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamPatII1 PubMed: Takezawa 2018 2-generation family, 2 sisters, unaffected heterozygous carrier parents F - Japan - - - - - 2 Johan den Dunnen
+?/. - c.2450G>A r.(?) p.(Arg817His) Maternal (confirmed) - likely pathogenic (recessive) g.220315180G>A g.220141838G>A - - IARS2_000017 - PubMed: Takezawa 2018 - - Germline yes - - - - DNA SEQ - WES ? FamPatII2 PubMed: Takezawa 2018 sister F no Japan - - - - - 1 Johan den Dunnen
+/. - c.2450G>A r.(?) p.(Arg817His) Unknown - pathogenic g.220315180G>A - - - IARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2450G>T r.(?) p.(Arg817Leu) Unknown - VUS g.220315180G>T - IARS2(NM_018060.4):c.2450G>T (p.(Arg817Leu)) - IARS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2575T>C r.(?) p.(Phe859Leu) Maternal (confirmed) - likely pathogenic (dominant) g.220316300T>C g.220142958T>C - - IARS2_000022 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT FamPat6 PubMed: Li 2018 2-generation family, 1 affected, unaffected heterozygous parents M - China - - - - - 1 Johan den Dunnen
+?/. - c.2575T>C r.(?) p.(Phe859Leu) Paternal (confirmed) - likely pathogenic (dominant) g.220316300T>C g.220142958T>C - - IARS2_000022 - PubMed: Li 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT Fam10PatII1/2 PubMed: Li 2018 2-generation family, 2 affected brothers, unaffected heterozygous parents M - China - - - - - 2 Johan den Dunnen
+?/. - c.2620G>A r.(?) p.(Gly874Arg) Both (homozygous) - likely pathogenic (recessive) g.220316345G>A g.220143003G>A - - IARS2_000015 - PubMed: Moosa 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CAGSSS Pat PubMed: Moosa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Denmark - - - - - 1 Johan den Dunnen
+/. - c.2620G>A r.(?) p.(Gly874Arg) Both (homozygous) - pathogenic (recessive) g.220316345G>A g.220143003G>A NM_018060.3:c.2620G>A:p.(Gly874Arg) - IARS2_000015 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG2022 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+?/. 21 c.2725C>T r.(?) p.(Pro909Ser) Both (homozygous) - likely pathogenic (recessive) g.220316450C>T g.220143108C>T - - IARS2_000006 - PubMed: Vona 2018 - - Germline yes - - - - DNA SEQ-NG-I Whole blood WES CAGSSS Fam1PatV3 PubMed: Vona 2018 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - - Yes - 1 Barbara Vona
+/. 21 c.2726C>T r.(?) p.(Pro909Leu) Both (homozygous) - pathogenic (recessive) g.220316451C>T g.220143109C>T - - IARS2_000001 homozygosity mapping, not in 540 control exomes PubMed: Schwartzentruber 2014, OMIM:var0001 - rs587783070 Germline yes - - - - DNA SEQ, SEQ-NG - WES CAGSSS FamPatVII1 PubMed: Schwartzentruber 2014 7-generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents/relatives M yes Canada French-Canadian - - - - 3 Johan den Dunnen
+/. - c.2726C>T r.(?) p.(Pro909Leu) Both (homozygous) - pathogenic (recessive) g.220316451C>T g.220143109C>T - - IARS2_000001 - PubMed: Schwartzentruber 2014 - - Germline yes - - - - DNA SEQ - - CAGSSS FamPat2 PubMed: Schwartzentruber 2014, - F yes Canada French-Canadian - - - - 1 Johan den Dunnen
+/. - c.2726C>T r.(?) p.(Pro909Leu) Both (homozygous) - pathogenic (recessive) g.220316451C>T g.220143109C>T - - IARS2_000001 - PubMed: Schwartzentruber 2014 - - Germline yes - - - - DNA SEQ - - CAGSSS FamPat3 PubMed: Schwartzentruber 2014 - M yes Canada French-Canadian - - - - 1 Johan den Dunnen
?/. - c.*3729T>C r.(=) p.(=) Unknown - VUS g.220324706T>C g.220151364T>C RAB3GAP2(NM_012414.4):c.4069A>G (p.T1357A) - RAB3GAP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3738T>C r.(=) p.(=) Unknown - likely benign g.220324715T>C g.220151373T>C RAB3GAP2(NM_012414.3):c.4060A>G (p.I1354V, p.(Ile1354Val)) - RAB3GAP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3738T>C r.(=) p.(=) Unknown - VUS g.220324715T>C g.220151373T>C RAB3GAP2(NM_012414.3):c.4060A>G (p.I1354V, p.(Ile1354Val)) - RAB3GAP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4031T>C r.(=) p.(=) Unknown - likely benign g.220325008T>C g.220151666T>C RAB3GAP2(NM_012414.3):c.3966A>G (p.K1322=) - RAB3GAP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4043G>T r.(=) p.(=) Unknown - likely benign g.220325020G>T - RAB3GAP2(NM_012414.3):c.3954C>A (p.H1318Q) - RAB3GAP2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4070C>A r.(=) p.(=) Unknown - likely benign g.220325047C>A - RAB3GAP2(NM_012414.3):c.3927G>T (p.G1309=) - RAB3GAP2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4073C>G r.(=) p.(=) Unknown - benign g.220325050C>G g.220151708C>G RAB3GAP2(NM_012414.3):c.3924G>C (p.T1308=) - RAB3GAP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4137T>C r.(=) p.(=) Unknown - likely benign g.220325114T>C g.220151772T>C RAB3GAP2(NM_012414.3):c.3868-8A>G - RAB3GAP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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