All transcript variants in gene HARS2

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

69 entries on 1 page. Showing entries 1 - 69.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. - c.-16242710_*5639148dup - - - pathogenic 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 r.(?) p.(=) - likely benign g.140050894G>C g.140671309G>C DND1(NM_194249.2):c.1046C>G (p.(Thr349Ser)) - DND1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-20327C>T r.(?) p.(=) - likely benign g.140050907C>T g.140671322C>T DND1(NM_194249.2):c.1033G>A (p.(Ala345Thr)) - DND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-20148C>T r.(?) p.(=) - likely benign g.140051086C>T g.140671501C>T DND1(NM_194249.2):c.854G>A (p.(Trp285Ter)) - DND1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-16977C>T r.(?) p.(=) - benign g.140054257C>T g.140674672C>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 r.(?) p.(=) - benign g.140054257C>T g.140674672C>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 r.(?) p.(=) - VUS g.140054277G>A g.140674692G>A HARS(NM_002109.6):c.1445C>T (p.T482M) - HARS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-16630T>C r.(?) p.(=) - VUS g.140054604T>C g.140675019T>C HARS(NM_002109.6):c.1309A>G (p.K437E) - HARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-16582G>C r.(?) p.(=) - benign g.140054652G>C g.140675067G>C HARS(NM_001258041.2):c.1201C>G (p.L401V) - DND1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-16522C>T r.(?) p.(=) - likely benign g.140054712C>T g.140675127C>T HARS(NM_002109.6):c.1201G>A (p.E401K) - DND1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-14996C>T r.(?) p.(=) - pathogenic g.140056238C>T g.140676653C>T HARS(NM_002109.6):c.1194+1G>A - HARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-14957C>A r.(?) p.(=) - VUS g.140056277C>A g.140676692C>A HARS(NM_002109.6):c.1156G>T (p.V386L) - DND1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-14928T>C r.(?) p.(=) - benign g.140056306T>C g.140676721T>C HARS(NM_002109.6):c.1127A>G (p.K376R) - HARS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-14857C>T r.(?) p.(=) - VUS g.140056377C>T g.140676792C>T HARS(NM_002109.6):c.1056G>A (p.L352=) - HARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-14679C>T r.(?) p.(=) - benign g.140056555C>T g.140676970C>T HARS(NM_002109.6):c.951+19G>A - DND1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-14612G>A r.(?) p.(=) - benign g.140056622G>A g.140677037G>A HARS(NM_002109.6):c.903C>T (p.D301=) - DND1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-14543G>T r.(?) p.(=) - likely benign g.140056691G>T g.140677106G>T HARS(NM_002109.6):c.834C>A (p.S278=) - DND1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-13978A>G r.(?) p.(=) - likely benign g.140057256A>G g.140677671A>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 r.(?) p.(=) - VUS g.140057256A>G g.140677671A>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 r.(?) p.(=) - benign g.140057509C>T g.140677924C>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 r.(?) p.(=) - VUS g.140057509C>T g.140677924C>T HARS(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-13725C>T r.(?) p.(=) - likely benign g.140057509C>T g.140677924C>T HARS(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-13699G>A r.(?) p.(=) - benign g.140057535G>A g.140677950G>A HARS(NM_002109.6):c.588C>T (p.C196=) - HARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.-12535C>T r.(?) p.(=) - likely pathogenic g.140058699C>T g.140679114C>T HARS(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-11847G>A r.(?) p.(=) - VUS g.140059387G>A g.140679802G>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 r.(?) p.(=) - VUS g.140059387G>A g.140679802G>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 r.(?) p.(=) - VUS g.140059429T>C g.140679844T>C HARS(NM_002109.6):c.340A>G (p.I114V) - HARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-8546T>C r.(?) p.(=) - likely benign g.140062688T>C g.140683103T>C HARS(NM_001258041.2):c.297A>G (p.L99=) - HARS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-8495A>C r.(?) p.(=) - likely benign g.140062739A>C g.140683154A>C HARS(NM_002109.6):c.246T>G (p.R82=) - HARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-8483G>A r.(?) p.(=) - benign g.140062751G>A g.140683166G>A HARS(NM_002109.6):c.234C>T (p.D78=) - HARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.-8452C>T r.(?) p.(=) - VUS g.140062782C>T g.140683197C>T HARS(NM_001258041.2):c.203G>A (p.R68Q) - HARS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.-8447del r.(?) p.(=) - likely pathogenic g.140062787del g.140683202del HARS(NM_002109.6):c.198delT (p.R68Gfs*12) - HARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.-8445_-8443del r.(?) p.(=) - likely pathogenic g.140062789_140062791del g.140683204_140683206del HARS(NM_002109.6):c.194_196delATA (p.Y65_S66delinsC) - HARS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.-8440dup r.(?) p.(=) - likely pathogenic g.140062794dup g.140683209dup HARS(NM_002109.6):c.191dupA (p.D64Efs*3) - HARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-8415C>G r.(?) p.(=) - benign g.140062819C>G g.140683234C>G HARS(NM_002109.6):c.181-15G>C - HARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.-793T>G r.(?) p.(=) - VUS g.140070441T>G g.140690856T>G HARS(NM_002109.6):c.179A>C (p.K60T) - HARS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-438T>G r.(?) p.(=) - VUS g.140070796T>G g.140691211T>G HARS(NM_002109.6):c.90+4A>C - HARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-433A>C r.(?) p.(=) - VUS g.140070801A>C g.140691216A>C HARS(NM_001258041.2):c.89T>G (p.L30R) - HARS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-384G>T r.(?) p.(=) - VUS g.140070850G>T g.140691265G>T HARS(NM_002109.6):c.40C>A (p.Q14K) - HARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.-358G>T r.(?) p.(=) - benign g.140070876G>T g.140691291G>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 r.(?) p.(=) - benign g.140070876G>T g.140691291G>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 r.(?) p.(=) - likely benign g.140070876G>T g.140691291G>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 r.(?) p.(=) - benign g.140070895C>A g.140691310C>A HARS(NM_002109.6):c.-6G>T - HARS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.7C>G r.(?) p.(Leu3Val) - likely benign g.140071240C>G g.140691655C>G HARS2(NM_012208.3):c.7C>G (p.L3V) - HARS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 2 c.172A>G r.(?) p.(Lys58Glu) - likely pathogenic g.140073239A>G g.140693654A>G - - HARS2_000017 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-?/. - c.324T>C r.(?) p.(Tyr108=) - likely benign g.140073790T>C g.140694205T>C HARS2(NM_012208.3):c.324T>C (p.Y108=) - HARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.367G>A r.(?) p.(Gly123Arg) - VUS g.140073833G>A g.140694248G>A HARS2(NM_001363535.1):c.385G>A (p.G129R) - ZMAT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.389A>G r.(?) p.(Tyr130Cys) - VUS g.140073855A>G g.140694270A>G - - ZMAT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.399+18G>A r.(=) p.(=) - benign g.140073883G>A g.140694298G>A HARS2(NM_012208.3):c.399+18G>A - HARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.399+18G>A r.(=) p.(=) - benign g.140073883G>A g.140694298G>A HARS2(NM_012208.3):c.399+18G>A - HARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.413G>A r.(?) p.(Arg138His) - VUS g.140075106G>A g.140695521G>A - - ZMAT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 5 c.448C>T r.(?) p.(Arg150Cys) - likely pathogenic g.140075141C>T g.140695556C>T - - HARS2_000018 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/. - c.489dup r.(?) p.(Ile164HisfsTer7) - pathogenic g.140075182dup g.140695597dup HARS2(NM_012208.3):c.489dupC (p.I164Hfs*7) - ZMAT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.564C>T r.(?) p.(Pro188=) - likely benign g.140075361C>T g.140695776C>T HARS2(NM_012208.3):c.564C>T (p.P188=) - ZMAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 6 c.598C>G r.(?) p.(Leu200Val) - pathogenic g.140075395C>G g.140695810C>G - - HARS2_000019 - MORL Deafness Variation Database, PubMed: Pierce 2011, PubMed: Pallister 1979 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-?/. - c.613T>C r.(?) p.(Leu205=) - likely benign g.140075410T>C g.140695825T>C HARS2(NM_012208.3):c.613T>C (p.L205=) - ZMAT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 6i c.633+1G>A r.spl? p.? - pathogenic g.140075431G>A g.140695846G>A - - HARS2_000020 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
?/. - c.956T>C r.(?) p.(Ile319Thr) - VUS g.140076750T>C g.140697165T>C HARS2(NM_012208.3):c.956T>C (p.I319T) - HARS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 10 c.1010A>G r.(?) p.(Tyr337Cys) - pathogenic 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) - pathogenic g.140076804A>G g.140697219A>G - - HARS2_000001 - PubMed: Lerat 2016, Journal: Lerat 2016 - rs537198287 Germline - - - 0 - Johan den Dunnen
?/. - c.1017A>G r.(?) p.(Ala339=) - VUS g.140076811A>G g.140697226A>G - - ZMAT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1039C>G r.(?) p.(Gln347Glu) - VUS g.140076833C>G g.140697248C>G HARS2(NM_012208.3):c.1039C>G (p.Q347E) - HARS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 10 c.1102G>T r.(?) p.(Val368Leu) - pathogenic g.140076896G>T g.140697311G>T - - HARS2_000021 - MORL Deafness Variation Database, PubMed: Pierce 2011 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-?/. - c.1105G>C r.(?) p.(Gly369Arg) - likely benign g.140076899G>C g.140697314G>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 r.(?) p.(Gly369Arg) - VUS g.140076899G>C g.140697314G>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 r.(?) p.(Gln418His) - likely benign g.140077210G>C g.140697625G>C HARS2(NM_012208.3):c.1254G>C (p.Q418H) - HARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1281G>A r.(?) p.(Lys427=) - likely benign g.140077237G>A g.140697652G>A HARS2(NM_012208.3):c.1281G>A (p.K427=) - ZMAT2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1421A>G r.(?) p.(Glu474Gly) - VUS g.140077623A>G g.140698038A>G HARS2(NM_012208.3):c.1421A>G (p.E474G) - ZMAT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1439G>A r.(?) p.(Arg480His) - VUS g.140077641G>A g.140698056G>A - - ZMAT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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