Full data view for gene HARS

This database is one of the "Eye disease" gene variant databases. NOTE: gene name changed from HARS to HARS1
Information The variants shown are described using the NM_002109.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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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.-5646396_*16225318dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-4521A>G r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4472G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4292dup r.(?) p.(=) Unknown - pathogenic g.140075182dup g.140695597dup HARS2(NM_012208.3):c.489dupC (p.I164Hfs*7) - ZMAT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4217C>T r.(?) p.(=) Unknown - VUS g.140075106G>A g.140695521G>A - - ZMAT2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2994C>T r.(?) p.(=) Unknown - benign g.140073883G>A g.140694298G>A HARS2(NM_012208.4):c.399+18G>A - HARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2994C>T r.(?) p.(=) Unknown - benign g.140073883G>A g.140694298G>A HARS2(NM_012208.4):c.399+18G>A - HARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2966T>C r.(?) p.(=) Unknown - VUS g.140073855A>G g.140694270A>G - - ZMAT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2944C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2901A>G r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-351G>C r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6G>T r.(?) p.(=) Unknown - benign g.140070895C>A g.140691310C>A HARS1(NM_002109.6):c.-6G>T - HARS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.14C>A r.14c>a p.Ala5Glu Unknown - VUS g.140070876G>T g.140691291G>T - - HARS_000006 - - - - Unknown ? 2/726 - - - DNA SEQ - - - - - - ? ? - - - - - - 363 Anthony Antonellis
-/. - c.14C>A r.(?) p.(Ala5Glu) Unknown - benign g.140070876G>T g.140691291G>T HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E) - HARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.14C>A r.(?) p.(Ala5Glu) Unknown - benign g.140070876G>T g.140691291G>T HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E) - HARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14C>A r.(?) p.(Ala5Glu) Unknown - likely benign g.140070876G>T g.140691291G>T HARS(NM_001258040.1):c.14C>A (p.(Ala5Glu)), HARS(NM_002109.6):c.14C>A (p.A5E), HARS1(NM_002109.6):c.14C>A (p.A5E) - HARS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40C>A r.(?) p.(Gln14Lys) Unknown - VUS g.140070850G>T g.140691265G>T HARS(NM_002109.6):c.40C>A (p.Q14K), HARS1(NM_002109.6):c.40C>A (p.Q14K) - HARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.40C>A r.(?) p.(Gln14Lys) Unknown - benign g.140070850G>T - HARS(NM_002109.6):c.40C>A (p.Q14K), HARS1(NM_002109.6):c.40C>A (p.Q14K) - HARS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89T>G r.(?) p.(Leu30Arg) Unknown - VUS g.140070801A>C g.140691216A>C HARS1(NM_001258041.3):c.89T>G (p.L30R) - HARS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.90+4A>C r.spl? p.? Unknown - VUS g.140070796T>G g.140691211T>G HARS(NM_002109.6):c.90+4A>C - HARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.179A>C r.(?) p.(Lys60Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.181-15G>C r.(=) p.(=) Unknown - benign g.140062819C>G g.140683234C>G HARS1(NM_002109.6):c.181-15G>C - HARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.191dup r.(?) p.(Asp64GlufsTer3) Unknown - likely pathogenic g.140062794dup g.140683209dup HARS(NM_002109.6):c.191dupA (p.D64Efs*3) - HARS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.194_196del r.(?) p.(Tyr65_Ser66delinsCys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.198del r.(?) p.(Arg68GlyfsTer12) Unknown - likely pathogenic g.140062787del g.140683202del HARS(NM_002109.6):c.198delT (p.R68Gfs*12) - HARS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202C>T r.(?) p.(Arg68Trp) Unknown - VUS g.140062783G>A - HARS(NM_001258041.2):c.202C>T (p.R68W) - HARS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203G>A r.(?) p.(Arg68Gln) Unknown - VUS g.140062782C>T - HARS(NM_001258041.2):c.203G>A (p.R68Q) - HARS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.218G>A r.(?) p.(Arg73His) Unknown - VUS g.140062767C>T - HARS(NM_001258041.2):c.218G>A (p.R73H) - HARS2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234C>T r.(?) p.(Asp78=) Unknown - benign g.140062751G>A g.140683166G>A HARS1(NM_002109.6):c.234C>T (p.D78=) - HARS_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246T>G r.(?) p.(Arg82=) Unknown - likely benign g.140062739A>C g.140683154A>C HARS1(NM_002109.6):c.246T>G (p.R82=) - HARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.262G>A r.(?) p.(Gly88Ser) Parent #2 - pathogenic (recessive) g.140062723C>T g.140683138C>T - - HARS_000024 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case27419 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
-?/. - c.297A>G r.(?) p.(Leu99=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307C>G r.(?) p.(Leu103Val) Unknown - VUS g.140059462G>C g.140679877G>C - - HARS_000025 23/1266 control chromosomes PubMed: Xu 2015 - - Germline - 5/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP308 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.340A>G r.(?) p.(Ile114Val) Unknown - VUS g.140059429T>C g.140679844T>C HARS1(NM_002109.6):c.340A>G (p.I114V) - HARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382C>T r.(?) p.(Arg128Cys) Unknown - VUS g.140059387G>A g.140679802G>A HARS(NM_002109.6):c.382C>T (p.R128C), HARS1(NM_002109.6):c.382C>T (p.R128C) - HARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382C>T r.(?) p.(Arg128Cys) Unknown - VUS g.140059387G>A g.140679802G>A HARS(NM_002109.6):c.382C>T (p.R128C), HARS1(NM_002109.6):c.382C>T (p.R128C) - HARS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.395C>T r.(?) p.Thr132Ile Unknown ACMG likely pathogenic g.140059374G>A g.140679789G>A - - HARS_000021 ACMG grading: PP3,PM2,PS3,PP5; reported in Safka Brozkova 2015. Brain 138: 2161 - - rs143473232 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+?/. - c.395C>T r.(?) p.(Thr132Ile) Unknown ACMG likely pathogenic g.140059374G>A g.140679789G>A - - HARS_000021 ACMG: PS3,PM2,PP3,PP5; Safka Brozkova et al. 2015. Brain 138: 2161 - - rs143473232 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/? 4 c.410G>A r.410g>a p.Arg137Gln Unknown - VUS g.140058699C>T g.140679114C>T - - HARS_000005 - - - - Unknown ? 1/726 - - - DNA SEQ - - - - - - ? ? - - - - - - 363 Anthony Antonellis
+?/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - likely pathogenic g.140058699C>T g.140679114C>T HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410G>A r.(?) p.(Arg137Gln) Parent #1 - VUS g.140058699C>T g.140679114C>T - - HARS_000005 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191391414 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.410G>A r.(?) p.(Arg137Gln) Parent #1 - pathogenic (recessive) g.140058699C>T g.140679114C>T - - HARS_000005 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case27419 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
?/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - VUS g.140058699C>T - HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - likely pathogenic g.140058699C>T - HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - pathogenic g.140058699C>T - HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410G>A r.(?) p.(Arg137Gln) Unknown - VUS g.140058699C>T - HARS(NM_002109.4):c.410G>A (p.(Arg137Gln)), HARS(NM_002109.6):c.410G>A (p.R137Q), HARS1(NM_002109.6):c.410G>A (p.R137Q) - HARS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.437_439dup r.(?) p.(Asn146dup) Unknown - VUS g.140058672_140058674dup - HARS(NM_001258041.2):c.437_439dupACA (p.N146dup) - HARS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.581T>C r.(?) p.(Ile194Thr) Unknown - VUS g.140057542A>G g.140677957A>G - - HARS_000022 - PubMed: Cox 2019 - - Germline - - - - - DNA SEQ-NG - - CLP Fam4527 PubMed: Cox 2019 4-generation family, 6 affected (3F, 3M) F;M - United States - - - - - 6 Timothy Cox
-/. - c.588C>T r.(?) p.(Cys196=) Unknown - benign g.140057535G>A g.140677950G>A HARS1(NM_002109.6):c.588C>T (p.C196=) - HARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 5 c.605G>A r.605g>a p.Gly205Asp Unknown - VUS g.140057518C>T - - - HARS_000004 Variant Error [EREF/EREFSEQ]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Unknown ? 2/726 - - - DNA SEQ - - - - - - ? ? - - - - - - 363 Anthony Antonellis
-/. - c.614G>A r.(?) p.(Gly205Asp) Unknown - benign g.140057509C>T g.140677924C>T HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614G>A r.(?) p.(Gly205Asp) Unknown - VUS g.140057509C>T g.140677924C>T HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.614G>A r.(?) p.(Gly205Asp) Parent #1 - benign g.140057509C>T g.140677924C>T - - DND1_000012 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147288996 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.614G>A r.(?) p.(Gly205Asp) Unknown - likely benign g.140057509C>T g.140677924C>T HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.713T>C r.713u>c p.Val238Ala Unknown - VUS g.140057256A>G g.140677671A>G - - HARS_000003 - - - - Unknown ? 1/726 - - - DNA SEQ - - - - - - ? ? - - - - - - 363 Anthony Antonellis
-?/. - c.713T>C r.(?) p.(Val238Ala) Unknown - likely benign g.140057256A>G g.140677671A>G HARS1(NM_002109.6):c.713T>C (p.V238A) - HARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.713T>C r.(?) p.(Val238Ala) Unknown - VUS g.140057256A>G g.140677671A>G HARS1(NM_002109.6):c.713T>C (p.V238A) - HARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.713T>C r.(?) p.(Val238Ala) Unknown - VUS g.140057256A>G - HARS1(NM_002109.6):c.713T>C (p.V238A) - HARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.743A>T r.(?) p.(Glu248Val) Unknown - VUS g.140056992T>A - HARS(NM_001258041.2):c.683A>T (p.E228V) - DND1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800T>C r.(?) p.(Ile267Thr) Unknown - VUS g.140056935A>G - HARS1(NM_001258041.3):c.740T>C (p.I247T) - DND1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.834C>A r.(?) p.(Ser278=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.903C>T r.(?) p.(Asp301=) Unknown - benign g.140056622G>A g.140677037G>A HARS1(NM_002109.6):c.903C>T (p.D301=) - DND1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.951+19G>A r.(=) p.(=) Unknown - benign g.140056555C>T g.140676970C>T HARS1(NM_002109.6):c.951+19G>A - DND1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1056G>A r.(?) p.(Leu352=) Unknown - VUS g.140056377C>T g.140676792C>T HARS1(NM_002109.6):c.1056G>A (p.L352=) - HARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 9 c.1127A>G r.1127a>g p.Lys376Arg Unknown - VUS g.140056306T>C g.140676721T>C - - HARS_000002 - - - - Unknown ? 1/726 - - - DNA SEQ - - - - - - ? ? - - - - - - 363 Anthony Antonellis
-/. - c.1127A>G r.(?) p.(Lys376Arg) Unknown - benign g.140056306T>C g.140676721T>C HARS1(NM_002109.6):c.1127A>G (p.K376R) - HARS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1156G>T r.(?) p.(Val386Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1194+1G>A r.spl? p.? Unknown - pathogenic g.140056238C>T g.140676653C>T HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A - HARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1194+1G>A r.spl? p.? Unknown - VUS g.140056238C>T - HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A - HARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1194+1G>A r.spl? p.? Unknown - VUS g.140056238C>T - HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A - HARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1196C>T r.(?) p.(Ala399Val) Unknown - benign g.140054717G>A - HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V) - HARS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1196C>T r.(?) p.(Ala399Val) Unknown - benign g.140054717G>A - HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V) - HARS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1201G>A r.(?) p.(Glu401Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1261C>G r.(?) p.(Leu421Val) Unknown - benign g.140054652G>C g.140675067G>C HARS1(NM_001258041.3):c.1201C>G (p.L401V) - DND1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1309A>G r.(?) p.(Lys437Glu) Unknown - VUS g.140054604T>C g.140675019T>C HARS1(NM_002109.6):c.1309A>G (p.K437E) - HARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1361A>C r.(?) p.(Tyr454Ser) Parent #1 - VUS g.140054361T>G g.140674776T>G - - HARS_000023 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906639 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.1361A>C r.(?) p.(Tyr454Ser) Both (homozygous) - likely pathogenic g.140054361T>G g.140674776T>G HARS c.1361A>C, p.Tyr454Ser - HARS_000023 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.72% (7/406) - - - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel USH3B 15 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - 1 LOVD
+?/. - c.1361A>C r.(?) p.(Tyr454Ser) Both (homozygous) - likely pathogenic g.140054361T>G g.140674776T>G HARS c.1361A>C, p.Tyr454Ser - HARS_000023 homozygous PubMed: Puffenberger 2012 - - Germline yes population-specific allele frequency: 1.72% (7/406) - - - DNA arraySNP, SEQ-NG, SEQ blood targeted gene analysis or a next-generation sequencing-based gene panel USH3B 16 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - 1 LOVD
?/. - c.1445C>T r.(?) p.(Thr482Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1445C>T r.(?) p.(Thr482Met) Parent #1 - likely benign g.140054277G>A g.140674692G>A - - HARS_000008 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147372931 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.1445C>T r.(?) p.(Thr482Met) Unknown - VUS g.140054277G>A g.140674692G>A - - HARS_000008 0/1266 control chromosomes PubMed: Xu 2015 - rs147372931 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP308 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.1446G>A r.(?) p.(Thr482=) Unknown - likely benign g.140054276C>T - HARS(NM_001258041.2):c.1386G>A (p.T462=) - DND1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1458+7G>A r.(=) p.(=) Unknown - benign g.140054257C>T g.140674672C>T HARS1(NM_002109.6):c.1458+7G>A - HARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1458+7G>A r.(=) p.(=) Unknown - benign g.140054257C>T g.140674672C>T HARS1(NM_002109.6):c.1458+7G>A - HARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 12 c.1513C>T r.1513c>u p.Pro505Ser Unknown - VUS g.140053859G>A g.140674274G>A - - HARS_000001 - - - - Unknown ? 1/726 - - - DNA SEQ - - - - - - ? ? - - - - - - 363 Anthony Antonellis
-?/. - c.*2756G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2935G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2948C>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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aliases include HRS, USH3B


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