All transcript variants in gene HARS2

Information The variants shown are described using the NM_012208.3 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
./. - c.-16242710_*5639148dup - - - g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - Johan den Dunnen
-?/. - c.-20340G>C likely benign r.(?) p.(=) g.140050894G>C - DND1(NM_194249.2):c.1046C>G (p.(Thr349Ser)) - DND1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-20327C>T likely benign r.(?) p.(=) g.140050907C>T - DND1(NM_194249.2):c.1033G>A (p.(Ala345Thr)) - DND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-20148C>T likely benign r.(?) p.(=) g.140051086C>T - DND1(NM_194249.2):c.854G>A (p.(Trp285Ter)) - DND1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-16977C>T benign r.(?) p.(=) g.140054257C>T - HARS(NM_002109.5):c.1458+7G>A, HARS(NM_002109.6):c.1458+7G>A - HARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-16977C>T benign r.(?) p.(=) g.140054257C>T - HARS(NM_002109.5):c.1458+7G>A, HARS(NM_002109.6):c.1458+7G>A - HARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.-16957G>A VUS r.(?) p.(=) g.140054277G>A - HARS(NM_002109.6):c.1445C>T (p.T482M) - HARS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-16630T>C VUS r.(?) p.(=) g.140054604T>C - HARS(NM_002109.6):c.1309A>G (p.K437E) - HARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-16522C>T likely benign r.(?) p.(=) g.140054712C>T - HARS(NM_002109.6):c.1201G>A (p.E401K) - DND1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.-14996C>T pathogenic r.(?) p.(=) g.140056238C>T - HARS(NM_002109.6):c.1194+1G>A - HARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-14957C>A VUS r.(?) p.(=) g.140056277C>A - HARS(NM_002109.6):c.1156G>T (p.V386L) - DND1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-14928T>C benign r.(?) p.(=) g.140056306T>C - HARS(NM_002109.6):c.1127A>G (p.K376R) - HARS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-14857C>T VUS r.(?) p.(=) g.140056377C>T - HARS(NM_002109.6):c.1056G>A (p.L352=) - HARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-14679C>T benign r.(?) p.(=) g.140056555C>T - HARS(NM_002109.6):c.951+19G>A - DND1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-14612G>A benign r.(?) p.(=) g.140056622G>A - HARS(NM_002109.6):c.903C>T (p.D301=) - DND1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-14543G>T likely benign r.(?) p.(=) g.140056691G>T - HARS(NM_002109.6):c.834C>A (p.S278=) - DND1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-14212C>T benign r.(?) p.(=) g.140057022C>T - HARS(NM_002109.6):c.730-17G>A - DND1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-13978A>G likely benign r.(?) p.(=) g.140057256A>G - HARS(NM_002109.6):c.713T>C (p.V238A) - HARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.-13978A>G VUS r.(?) p.(=) g.140057256A>G - HARS(NM_002109.6):c.713T>C (p.V238A) - HARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-13725C>T benign r.(?) p.(=) g.140057509C>T - HARS(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-13725C>T VUS r.(?) p.(=) g.140057509C>T - HARS(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-13699G>A benign r.(?) p.(=) g.140057535G>A - HARS(NM_002109.6):c.588C>T (p.C196=) - HARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.-12535C>T likely pathogenic r.(?) p.(=) g.140058699C>T - HARS(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-11847G>A VUS r.(?) p.(=) g.140059387G>A - HARS(NM_002109.6):c.382C>T (p.R128C) - HARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-11847G>A VUS r.(?) p.(=) g.140059387G>A - HARS(NM_002109.6):c.382C>T (p.R128C) - HARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-11805T>C VUS r.(?) p.(=) g.140059429T>C - HARS(NM_002109.6):c.340A>G (p.I114V) - HARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-8546T>C likely benign r.(?) p.(=) g.140062688T>C - HARS(NM_001258041.2):c.297A>G (p.L99=) - chr5_006333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.-8495A>C likely benign r.(?) p.(=) g.140062739A>C - HARS(NM_002109.6):c.246T>G (p.R82=) - HARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-8483G>A benign r.(?) p.(=) g.140062751G>A - HARS(NM_002109.6):c.234C>T (p.D78=) - HARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.-8447del likely pathogenic r.(?) p.(=) g.140062787del - HARS(NM_002109.6):c.198delT (p.R68Gfs*12) - HARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.-8445_-8443del likely pathogenic r.(?) p.(=) g.140062789_140062791del - HARS(NM_002109.6):c.194_196delATA (p.Y65_S66delinsC) - HARS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.-8440dup likely pathogenic r.(?) p.(=) g.140062794dup - HARS(NM_002109.6):c.191dupA (p.D64Efs*3) - HARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.-8415C>G benign r.(?) p.(=) g.140062819C>G - HARS(NM_002109.6):c.181-15G>C - HARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-793T>G VUS r.(?) p.(=) g.140070441T>G - HARS(NM_002109.6):c.179A>C (p.K60T) - HARS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-438T>G VUS r.(?) p.(=) g.140070796T>G - HARS(NM_002109.6):c.90+4A>C - HARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.-384G>T VUS r.(?) p.(=) g.140070850G>T - HARS(NM_002109.6):c.40C>A (p.Q14K) - HARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.-358G>T benign r.(?) p.(=) g.140070876G>T - HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_001258041.2):c.14C>A (p.A5E), HARS(NM_002109.6):c.14C>A (p.A5E) - HARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-358G>T benign r.(?) p.(=) g.140070876G>T - HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_001258041.2):c.14C>A (p.A5E), HARS(NM_002109.6):c.14C>A (p.A5E) - HARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-358G>T likely benign r.(?) p.(=) g.140070876G>T - HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_001258041.2):c.14C>A (p.A5E), HARS(NM_002109.6):c.14C>A (p.A5E) - HARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-339C>A benign r.(?) p.(=) g.140070895C>A - HARS(NM_002109.6):c.-6G>T - HARS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.7C>G likely benign r.(?) p.(Leu3Val) g.140071240C>G - HARS2(NM_012208.3):c.7C>G (p.L3V) - HARS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.324T>C likely benign r.(?) p.(=) g.140073790T>C - HARS2(NM_012208.3):c.324T>C (p.Y108=) - HARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.389A>G VUS r.(?) p.(Tyr130Cys) g.140073855A>G - - - chr5_006334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.399+18G>A benign r.(=) p.(=) g.140073883G>A - HARS2(NM_012208.3):c.399+18G>A - HARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.413G>A VUS r.(?) p.(Arg138His) g.140075106G>A - - - ZMAT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.489dup pathogenic r.(?) p.(Ile164Hisfs*7) g.140075182dup - HARS2(NM_012208.3):c.489dupC (p.I164Hfs*7) - ZMAT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.564C>T likely benign r.(?) p.(=) g.140075361C>T - HARS2(NM_012208.3):c.564C>T (p.P188=) - ZMAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.613T>C likely benign r.(?) p.(=) g.140075410T>C - HARS2(NM_012208.3):c.613T>C (p.L205=) - chr5_006335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.956T>C VUS r.(?) p.(Ile319Thr) g.140076750T>C - HARS2(NM_012208.3):c.956T>C (p.I319T) - HARS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 10 c.1010A>G - r.(?) p.(Tyr337Cys) g.140076804A>G g.140697219A>G - - HARS2_000001 - PubMed: Lerat 2016, Journal: Lerat 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.1010A>G - r.(?) p.(Tyr337Cys) g.140076804A>G g.140697219A>G - - HARS2_000001 - PubMed: Lerat 2016, Journal: Lerat 2016 - rs537198287 Germline - - - 0 - Johan den Dunnen
?/. - c.1017A>G VUS r.(?) p.(=) g.140076811A>G - - - chr5_006336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1039C>G VUS r.(?) p.(Gln347Glu) g.140076833C>G - HARS2(NM_012208.3):c.1039C>G (p.Q347E) - HARS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1105G>C likely benign r.(?) p.(Gly369Arg) g.140076899G>C - HARS2(NM_012208.3):c.1105G>C (p.G369R), HARS2(NM_012208.4):c.1105G>C (p.G369R) - HARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1105G>C VUS r.(?) p.(Gly369Arg) g.140076899G>C - HARS2(NM_012208.3):c.1105G>C (p.G369R), HARS2(NM_012208.4):c.1105G>C (p.G369R) - HARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1254G>C likely benign r.(?) p.(Gln418His) g.140077210G>C - HARS2(NM_012208.3):c.1254G>C (p.Q418H) - HARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1281G>A likely benign r.(?) p.(=) g.140077237G>A - HARS2(NM_012208.3):c.1281G>A (p.K427=) - chr5_006337 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1421A>G VUS r.(?) p.(Glu474Gly) g.140077623A>G - HARS2(NM_012208.3):c.1421A>G (p.E474G) - ZMAT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1439G>A VUS r.(?) p.(Arg480His) g.140077641G>A - - - ZMAT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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