NM_015340.4(LARS2):c.2560C>A (p.Pro854Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004026939]|not provided [RCV000728062] |
Chr3:45547378 [GRCh38] Chr3:45588870 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2404+5G>A |
single nucleotide variant |
not specified [RCV000602584] |
Chr3:45524113 [GRCh38] Chr3:45565605 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV000235552]|LARS2-Related Disorders [RCV004689437]|LARS2-related disorder [RCV004730866]|Perrault syndrome 4 [RCV000049285]|Perrault syndrome [RCV000857234]|Rare genetic deafness [RCV000604453]|not provided [RCV000520936] |
Chr3:45496316 [GRCh38] Chr3:45537808 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic |
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) |
single nucleotide variant |
Nonsyndromic genetic hearing loss [RCV001544530]|Perrault syndrome 4 [RCV000049286]|Perrault syndrome [RCV002513678] |
Chr3:45516118 [GRCh38] Chr3:45557610 [GRCh37] Chr3:3p21.31 |
pathogenic|not provided |
NM_015340.4(LARS2):c.1077del (p.Ile360fs) |
deletion |
Perrault syndrome 4 [RCV000049287]|Perrault syndrome [RCV002513679] |
Chr3:45485749 [GRCh38] Chr3:45527241 [GRCh37] Chr3:3p21.31 |
pathogenic|not provided |
NM_015340.3(LARS2):c.1167C>T (p.Thr389=) |
single nucleotide variant |
Malignant melanoma [RCV000066083] |
Chr3:45488740 [GRCh38] Chr3:45530232 [GRCh37] Chr3:45505236 [NCBI36] Chr3:3p21.31 |
not provided |
NM_015340.4(LARS2):c.1584G>C (p.Trp528Cys) |
single nucleotide variant |
not provided [RCV000087224] |
Chr3:45496335 [GRCh38] Chr3:45537827 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.457A>C (p.Asn153His) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV000723297]|Perrault syndrome 4 [RCV001727613]|Perrault syndrome [RCV000857233]|not provided [RCV000171359] |
Chr3:45419670 [GRCh38] Chr3:45461162 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic|uncertain significance |
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp) |
single nucleotide variant |
LARS2-related disorder [RCV003977559]|Perrault syndrome 4 [RCV001731434]|not provided [RCV000676573]|not specified [RCV000203053] |
Chr3:45541917 [GRCh38] Chr3:45583409 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) |
single nucleotide variant |
Perrault syndrome 4 [RCV000203255] |
Chr3:45516144 [GRCh38] Chr3:45557636 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.899C>T (p.Thr300Met) |
single nucleotide variant |
Perrault syndrome 4 [RCV000203257]|not provided [RCV003556221] |
Chr3:45476508 [GRCh38] Chr3:45518000 [GRCh37] Chr3:3p21.31 |
pathogenic|uncertain significance |
NM_015340.4(LARS2):c.2211T>C (p.Ser737=) |
single nucleotide variant |
not provided [RCV000756300]|not specified [RCV000221864] |
Chr3:45518069 [GRCh38] Chr3:45559561 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1455G>A (p.Ala485=) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001730591]|Perrault syndrome 4 [RCV001730590]|not provided [RCV000676568]|not specified [RCV000215318] |
Chr3:45491732 [GRCh38] Chr3:45533224 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2292+8G>T |
single nucleotide variant |
not specified [RCV000217096] |
Chr3:45520304 [GRCh38] Chr3:45561796 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1053T>C (p.Leu351=) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001730589]|Perrault syndrome 4 [RCV001730588]|not provided [RCV000676565]|not specified [RCV000217249] |
Chr3:45485726 [GRCh38] Chr3:45527218 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1131C>T (p.Pro377=) |
single nucleotide variant |
LARS2-related disorder [RCV003982956]|not provided [RCV000676566]|not specified [RCV000222203] |
Chr3:45488704 [GRCh38] Chr3:45530196 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1782G>T (p.Leu594=) |
single nucleotide variant |
not provided [RCV002057112]|not specified [RCV000213198] |
Chr3:45513156 [GRCh38] Chr3:45554648 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2547T>C (p.Ala849=) |
single nucleotide variant |
LARS2-related disorder [RCV003917870]|not provided [RCV000756297]|not specified [RCV000219845] |
Chr3:45547365 [GRCh38] Chr3:45588857 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2112G>A (p.Glu704=) |
single nucleotide variant |
not specified [RCV000217489] |
Chr3:45517970 [GRCh38] Chr3:45559462 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) |
single nucleotide variant |
Inborn mitochondrial myopathy [RCV000993588]|not provided [RCV000950101]|not specified [RCV000217610] |
Chr3:45496303 [GRCh38] Chr3:45537795 [GRCh37] Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015340.4(LARS2):c.2124T>C (p.Ser708=) |
single nucleotide variant |
LARS2-related disorder [RCV003917868]|not provided [RCV000676570]|not specified [RCV000215446] |
Chr3:45517982 [GRCh38] Chr3:45559474 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.945G>C (p.Ser315=) |
single nucleotide variant |
LARS2-related disorder [RCV003977587]|not provided [RCV000676563]|not specified [RCV000217895] |
Chr3:45476554 [GRCh38] Chr3:45518046 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
NM_015340.4(LARS2):c.972C>A (p.His324Gln) |
single nucleotide variant |
not provided [RCV000676564]|not specified [RCV000220287] |
Chr3:45476581 [GRCh38] Chr3:45518073 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002517558]|Perrault syndrome 4 [RCV001731525]|not provided [RCV001853457]|not specified [RCV000213882] |
Chr3:45547438 [GRCh38] Chr3:45588930 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1692C>T (p.Ala564=) |
single nucleotide variant |
LARS2-related disorder [RCV003937804]|not provided [RCV000969844]|not specified [RCV000215664] |
Chr3:45500511 [GRCh38] Chr3:45542003 [GRCh37] Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_015340.4(LARS2):c.2278A>G (p.Ser760Gly) |
single nucleotide variant |
not provided [RCV001853456]|not specified [RCV000215759] |
Chr3:45520282 [GRCh38] Chr3:45561774 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.22T>C (p.Leu8=) |
single nucleotide variant |
LARS2-related disorder [RCV003907792]|not provided [RCV000953349]|not specified [RCV000215783] |
Chr3:45394475 [GRCh38] Chr3:45435967 [GRCh37] Chr3:3p21.31 |
benign|conflicting interpretations of pathogenicity |
NM_015340.4(LARS2):c.2214+13C>G |
single nucleotide variant |
not specified [RCV000214211] |
Chr3:45518085 [GRCh38] Chr3:45559577 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2404+4C>T |
single nucleotide variant |
not provided [RCV001589130]|not specified [RCV000220744] |
Chr3:45524112 [GRCh38] Chr3:45565604 [GRCh37] Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015340.4(LARS2):c.2307C>T (p.Ser769=) |
single nucleotide variant |
LARS2-related disorder [RCV003917869]|not provided [RCV000969009]|not specified [RCV000220812] |
Chr3:45524011 [GRCh38] Chr3:45565503 [GRCh37] Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_015340.4(LARS2):c.765G>A (p.Ala255=) |
single nucleotide variant |
LARS2-related disorder [RCV003907793]|not provided [RCV000756299]|not specified [RCV000214270] |
Chr3:45474257 [GRCh38] Chr3:45515749 [GRCh37] Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_015340.4(LARS2):c.2181G>T (p.Lys727Asn) |
single nucleotide variant |
LARS2-related disorder [RCV003907791]|not provided [RCV000756298]|not specified [RCV000222755] |
Chr3:45518039 [GRCh38] Chr3:45559531 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1983G>A (p.Thr661=) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001730595]|Perrault syndrome 4 [RCV001730594]|not provided [RCV000676569]|not specified [RCV000222984] |
Chr3:45516215 [GRCh38] Chr3:45557707 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.157T>C (p.Leu53=) |
single nucleotide variant |
not provided [RCV000676561]|not specified [RCV000221317] |
Chr3:45394610 [GRCh38] Chr3:45436102 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.255C>T (p.Tyr85=) |
single nucleotide variant |
LARS2-related disorder [RCV003907807]|not provided [RCV000992266]|not specified [RCV000221390] |
Chr3:45400265 [GRCh38] Chr3:45441757 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
NM_015340.4(LARS2):c.2358A>G (p.Val786=) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001730599]|Perrault syndrome 4 [RCV001730598]|not provided [RCV000676572]|not specified [RCV000223098] |
Chr3:45524062 [GRCh38] Chr3:45565554 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2169T>C (p.Ala723=) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001730597]|Perrault syndrome 4 [RCV001730596]|not provided [RCV000676571]|not specified [RCV000219077] |
Chr3:45518027 [GRCh38] Chr3:45559519 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.945G>A (p.Ser315=) |
single nucleotide variant |
not provided [RCV000676562]|not specified [RCV000215150] |
Chr3:45476554 [GRCh38] Chr3:45518046 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
NM_015340.4(LARS2):c.1760+12T>C |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001730593]|Perrault syndrome 4 [RCV001730592]|not provided [RCV002057072]|not specified [RCV000219368] |
Chr3:45500591 [GRCh38] Chr3:45542083 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1289C>T (p.Ala430Val) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV000235638] |
Chr3:45491566 [GRCh38] Chr3:45533058 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2263C>T (p.Gln755Ter) |
single nucleotide variant |
not provided [RCV000239073] |
Chr3:45520267 [GRCh38] Chr3:45561759 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1938C>T (p.Asn646=) |
single nucleotide variant |
LARS2-related disorder [RCV003962736]|not provided [RCV000992265]|not specified [RCV000606684] |
Chr3:45516170 [GRCh38] Chr3:45557662 [GRCh37] Chr3:3p21.31 |
likely benign |
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 |
copy number gain |
See cases [RCV000240519] |
Chr3:37028313..49929220 [GRCh37] Chr3:3p22.2-21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) |
single nucleotide variant |
Perrault syndrome 4 [RCV000496108] |
Chr3:45417489 [GRCh38] Chr3:45458981 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) |
single nucleotide variant |
Perrault syndrome 4 [RCV000496181]|not provided [RCV003441896] |
Chr3:45516219 [GRCh38] Chr3:45557711 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic |
NM_015340.4(LARS2):c.235-269del |
deletion |
not provided [RCV001548438] |
Chr3:45399971 [GRCh38] Chr3:45441463 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004024793]|not provided [RCV000594329]|not specified [RCV001449843] |
Chr3:45518061 [GRCh38] Chr3:45559553 [GRCh37] Chr3:3p21.31 |
likely benign|uncertain significance |
NM_015340.4(LARS2):c.-21-13C>T |
single nucleotide variant |
not specified [RCV000599761] |
Chr3:45394420 [GRCh38] Chr3:45435912 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.3(LARS2):c.(?_2533)-70_*(70_?)del |
deletion |
Rare genetic deafness [RCV000615437] |
Chr3:45547281..45547600 [GRCh38] Chr3:45588773..45589092 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.2420C>T (p.Pro807Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003380627]|not provided [RCV000598539] |
Chr3:45541844 [GRCh38] Chr3:45583336 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.556C>T (p.Gln186Ter) |
single nucleotide variant |
not provided [RCV000593156] |
Chr3:45446930 [GRCh38] Chr3:45488422 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic |
NM_015340.4(LARS2):c.180G>C (p.Glu60Asp) |
single nucleotide variant |
not provided [RCV002285370]|not specified [RCV000603739] |
Chr3:45394633 [GRCh38] Chr3:45436125 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1124-8C>G |
single nucleotide variant |
not specified [RCV000437683] |
Chr3:45488689 [GRCh38] Chr3:45530181 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.-36G>A |
single nucleotide variant |
not provided [RCV004708830]|not specified [RCV000441500] |
Chr3:45391634 [GRCh38] Chr3:45433126 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.324C>T (p.Ser108=) |
single nucleotide variant |
not provided [RCV001703755] |
Chr3:45400334 [GRCh38] Chr3:45441826 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
NM_015340.4(LARS2):c.1622+7C>T |
single nucleotide variant |
not provided [RCV002062494]|not specified [RCV000421719] |
Chr3:45496380 [GRCh38] Chr3:45537872 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2238C>T (p.Asp746=) |
single nucleotide variant |
not provided [RCV001703836] |
Chr3:45520242 [GRCh38] Chr3:45561734 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.235-12G>A |
single nucleotide variant |
not provided [RCV002525454]|not specified [RCV000419322] |
Chr3:45400233 [GRCh38] Chr3:45441725 [GRCh37] Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_015340.4(LARS2):c.693A>G (p.Ala231=) |
single nucleotide variant |
not provided [RCV003766250]|not specified [RCV000419487] |
Chr3:45458829 [GRCh38] Chr3:45500321 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1989G>T (p.Arg663=) |
single nucleotide variant |
not provided [RCV001698220]|not specified [RCV000419594] |
Chr3:45516221 [GRCh38] Chr3:45557713 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.235-19C>A |
single nucleotide variant |
not specified [RCV000443635] |
Chr3:45400226 [GRCh38] Chr3:45441718 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.879C>T (p.Gly293=) |
single nucleotide variant |
not provided [RCV003727947]|not specified [RCV001195331] |
Chr3:45476488 [GRCh38] Chr3:45517980 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.219A>G (p.Lys73=) |
single nucleotide variant |
not provided [RCV003727730]|not specified [RCV000429676] |
Chr3:45394672 [GRCh38] Chr3:45436164 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys) |
single nucleotide variant |
LARS2-related disorder [RCV003972637]|Perrault syndrome 4 [RCV001731681]|not provided [RCV000766548]|not specified [RCV000433645] |
Chr3:45547420 [GRCh38] Chr3:45588912 [GRCh37] Chr3:3p21.31 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015340.4(LARS2):c.1622+8G>A |
single nucleotide variant |
not provided [RCV000992264]|not specified [RCV000426706] |
Chr3:45496381 [GRCh38] Chr3:45537873 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) |
single nucleotide variant |
not provided [RCV000676567]|not specified [RCV000433895] |
Chr3:45491660 [GRCh38] Chr3:45533152 [GRCh37] Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015340.4(LARS2):c.2292+8_2292+9delinsTT |
indel |
not specified [RCV000486608] |
Chr3:45520304..45520305 [GRCh38] Chr3:45561796..45561797 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1104C>G (p.Gly368=) |
single nucleotide variant |
not provided [RCV003767432]|not specified [RCV000603980] |
Chr3:45485777 [GRCh38] Chr3:45527269 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.488G>A (p.Arg163His) |
single nucleotide variant |
not provided [RCV002529285]|not specified [RCV000601896] |
Chr3:45419701 [GRCh38] Chr3:45461193 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.-88+6C>A |
single nucleotide variant |
not specified [RCV000602286] |
Chr3:45388686 [GRCh38] Chr3:45430178 [GRCh37] Chr3:3p21.31 |
likely benign |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_015340.4(LARS2):c.2572C>A (p.Gln858Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002531144]|Perrault syndrome 4 [RCV004722971]|not provided [RCV001568003]|not specified [RCV000609704] |
Chr3:45547390 [GRCh38] Chr3:45588882 [GRCh37] Chr3:3p21.31 |
likely benign|uncertain significance |
NM_015340.4(LARS2):c.1861+7A>G |
single nucleotide variant |
not provided [RCV002531131]|not specified [RCV000601453] |
Chr3:45513242 [GRCh38] Chr3:45554734 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1123+11A>G |
single nucleotide variant |
not provided [RCV001697328] |
Chr3:45485807 [GRCh38] Chr3:45527299 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.-88+10C>G |
single nucleotide variant |
not specified [RCV000615404] |
Chr3:45388690 [GRCh38] Chr3:45430182 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1840A>G (p.Arg614Gly) |
single nucleotide variant |
not specified [RCV000615779] |
Chr3:45513214 [GRCh38] Chr3:45554706 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1053T>A (p.Leu351=) |
single nucleotide variant |
not specified [RCV000612666] |
Chr3:45485726 [GRCh38] Chr3:45527218 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.-103C>G |
single nucleotide variant |
not specified [RCV000615917] |
Chr3:45388665 [GRCh38] Chr3:45430157 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1753A>G (p.Lys585Glu) |
single nucleotide variant |
not provided [RCV003314625]|not specified [RCV000616337] |
Chr3:45500572 [GRCh38] Chr3:45542064 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1452C>T (p.Ile484=) |
single nucleotide variant |
not provided [RCV002531592]|not specified [RCV000607536] |
Chr3:45491729 [GRCh38] Chr3:45533221 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1814G>A (p.Arg605His) |
single nucleotide variant |
Perrault syndrome 4 [RCV000764507]|not provided [RCV002529288]|not specified [RCV000610515] |
Chr3:45513188 [GRCh38] Chr3:45554680 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1947C>A (p.Asp649Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002529289]|not provided [RCV001595024]|not specified [RCV000616471] |
Chr3:45516179 [GRCh38] Chr3:45557671 [GRCh37] Chr3:3p21.31 |
likely benign|uncertain significance |
NM_015340.4(LARS2):c.1008C>T (p.Val336=) |
single nucleotide variant |
LARS2-related disorder [RCV003905566]|not provided [RCV000911177]|not specified [RCV000610523] |
Chr3:45476617 [GRCh38] Chr3:45518109 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1123+8G>C |
single nucleotide variant |
not provided [RCV002531138]|not specified [RCV000613440] |
Chr3:45485804 [GRCh38] Chr3:45527296 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.363+13G>A |
single nucleotide variant |
not provided [RCV002060652]|not specified [RCV000616570] |
Chr3:45400386 [GRCh38] Chr3:45441878 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2044+14del |
deletion |
not specified [RCV000616589] |
Chr3:45516289 [GRCh38] Chr3:45557781 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2169T>A (p.Ala723=) |
single nucleotide variant |
not specified [RCV000611490] |
Chr3:45518027 [GRCh38] Chr3:45559519 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2156A>G (p.Asn719Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003291916] |
Chr3:45518014 [GRCh38] Chr3:45559506 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1392C>T (p.Cys464=) |
single nucleotide variant |
not provided [RCV001704697] |
Chr3:45491669 [GRCh38] Chr3:45533161 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.416C>T (p.Ala139Val) |
single nucleotide variant |
not specified [RCV000614808] |
Chr3:45417534 [GRCh38] Chr3:45459026 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1481dup (p.Leu495fs) |
duplication |
Nonsyndromic genetic hearing loss [RCV001544529]|not provided [RCV002568270] |
Chr3:45491752..45491753 [GRCh38] Chr3:45533244..45533245 [GRCh37] Chr3:3p21.31 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_015340.4(LARS2):c.1520C>G (p.Pro507Arg) |
single nucleotide variant |
Rare genetic deafness [RCV000608365] |
Chr3:45491797 [GRCh38] Chr3:45533289 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p21.31(chr3:45517098-45552017)x1 |
copy number loss |
not provided [RCV000742388] |
Chr3:45517098..45552017 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.363+42C>T |
single nucleotide variant |
not provided [RCV001667374] |
Chr3:45400415 [GRCh38] Chr3:45441907 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.235-7T>G |
single nucleotide variant |
not provided [RCV001583703] |
Chr3:45400238 [GRCh38] Chr3:45441730 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2709T>C (p.Asp903=) |
single nucleotide variant |
not provided [RCV001583860] |
Chr3:45547527 [GRCh38] Chr3:45589019 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1523+93G>C |
single nucleotide variant |
not provided [RCV001585480] |
Chr3:45491893 [GRCh38] Chr3:45533385 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter) |
single nucleotide variant |
Perrault syndrome 4 [RCV000761250] |
Chr3:45485788 [GRCh38] Chr3:45527280 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.362A>G (p.Gln121Arg) |
single nucleotide variant |
LARS2-related disorder [RCV003956336]|not provided [RCV001707178] |
Chr3:45400372 [GRCh38] Chr3:45441864 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
NM_015340.4(LARS2):c.1019-189G>A |
single nucleotide variant |
not provided [RCV001645937] |
Chr3:45485503 [GRCh38] Chr3:45526995 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1623-176T>A |
single nucleotide variant |
not provided [RCV001586695] |
Chr3:45500266 [GRCh38] Chr3:45541758 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1760+234T>C |
single nucleotide variant |
not provided [RCV001577074] |
Chr3:45500813 [GRCh38] Chr3:45542305 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.189G>A (p.Trp63Ter) |
single nucleotide variant |
not provided [RCV001569761] |
Chr3:45394642 [GRCh38] Chr3:45436134 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic |
NM_015340.4(LARS2):c.2292+206C>T |
single nucleotide variant |
not provided [RCV001551684] |
Chr3:45520502 [GRCh38] Chr3:45561994 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1861+193C>A |
single nucleotide variant |
not provided [RCV001577996] |
Chr3:45513428 [GRCh38] Chr3:45554920 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV000993584] |
Chr3:45517957 [GRCh38] Chr3:45559449 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV002470994]|Perrault syndrome 4 [RCV000993585] |
Chr3:45417558 [GRCh38] Chr3:45459050 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.2215-78dup |
duplication |
not provided [RCV001583285] |
Chr3:45520132..45520133 [GRCh38] Chr3:45561624..45561625 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1197A>G (p.Glu399=) |
single nucleotide variant |
LARS2-related disorder [RCV003968248]|not provided [RCV000900806] |
Chr3:45488770 [GRCh38] Chr3:45530262 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) |
copy number gain |
not provided [RCV000767704] |
Chr3:45153770..53878616 [GRCh37] Chr3:3p21.31-21.1 |
pathogenic |
NM_015340.4(LARS2):c.751-87T>C |
single nucleotide variant |
not provided [RCV000835541] |
Chr3:45474156 [GRCh38] Chr3:45515648 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1019-85C>G |
single nucleotide variant |
not provided [RCV000835542] |
Chr3:45485607 [GRCh38] Chr3:45527099 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1239+97G>A |
single nucleotide variant |
not provided [RCV000835543] |
Chr3:45488909 [GRCh38] Chr3:45530401 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2214+57C>T |
single nucleotide variant |
not provided [RCV000835544] |
Chr3:45518129 [GRCh38] Chr3:45559621 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2405-24C>T |
single nucleotide variant |
not provided [RCV000835545] |
Chr3:45541805 [GRCh38] Chr3:45583297 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.517-4G>A |
single nucleotide variant |
not provided [RCV000839304] |
Chr3:45446887 [GRCh38] Chr3:45488379 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2676G>A (p.Pro892=) |
single nucleotide variant |
not provided [RCV000841322] |
Chr3:45547494 [GRCh38] Chr3:45588986 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2293-50G>A |
single nucleotide variant |
not provided [RCV000835691] |
Chr3:45523947 [GRCh38] Chr3:45565439 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1779G>C (p.Leu593=) |
single nucleotide variant |
not provided [RCV000841418] |
Chr3:45513153 [GRCh38] Chr3:45554645 [GRCh37] Chr3:3p21.31 |
benign|likely benign |
NM_015340.4(LARS2):c.1380C>T (p.Pro460=) |
single nucleotide variant |
not provided [RCV000841529] |
Chr3:45491657 [GRCh38] Chr3:45533149 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.516+138A>G |
single nucleotide variant |
not provided [RCV000835742] |
Chr3:45419867 [GRCh38] Chr3:45461359 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1622+43G>A |
single nucleotide variant |
not provided [RCV000835880] |
Chr3:45496416 [GRCh38] Chr3:45537908 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.364-223C>T |
single nucleotide variant |
not provided [RCV000828567] |
Chr3:45417259 [GRCh38] Chr3:45458751 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1247del (p.Gly416fs) |
deletion |
not provided [RCV000998063] |
Chr3:45491523 [GRCh38] Chr3:45533015 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV000993583] |
Chr3:45417506 [GRCh38] Chr3:45458998 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV002470995]|Perrault syndrome 4 [RCV000993586] |
Chr3:45496358 [GRCh38] Chr3:45537850 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV003147560]|LARS2-related disorder [RCV003938180]|Perrault syndrome 4 [RCV003147559]|not provided [RCV001585771]|not specified [RCV000825770] |
Chr3:45488751 [GRCh38] Chr3:45530243 [GRCh37] Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015340.4(LARS2):c.1530G>A (p.Lys510=) |
single nucleotide variant |
not specified [RCV000825771] |
Chr3:45496281 [GRCh38] Chr3:45537773 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1123+218_1123+219insTTA |
insertion |
not provided [RCV000828905] |
Chr3:45486013..45486014 [GRCh38] Chr3:45527505..45527506 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1124-293A>T |
single nucleotide variant |
not provided [RCV000844375] |
Chr3:45488404 [GRCh38] Chr3:45529896 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1861+317C>A |
single nucleotide variant |
not provided [RCV000844377] |
Chr3:45513552 [GRCh38] Chr3:45555044 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.234+294G>A |
single nucleotide variant |
not provided [RCV000844441] |
Chr3:45394981 [GRCh38] Chr3:45436473 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.683G>A (p.Arg228His) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV000993581]|Perrault syndrome 4 [RCV001283752]|not provided [RCV002538373] |
Chr3:45458819 [GRCh38] Chr3:45500311 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic |
NM_015340.4(LARS2):c.1302A>G (p.Arg434=) |
single nucleotide variant |
not provided [RCV000827011] |
Chr3:45491579 [GRCh38] Chr3:45533071 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.516+262A>G |
single nucleotide variant |
not provided [RCV000828568] |
Chr3:45419991 [GRCh38] Chr3:45461483 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1123+220T>G |
single nucleotide variant |
not provided [RCV000828569] |
Chr3:45486016 [GRCh38] Chr3:45527508 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.364-241A>G |
single nucleotide variant |
not provided [RCV000830432] |
Chr3:45417241 [GRCh38] Chr3:45458733 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.763G>A (p.Ala255Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004629356]|not provided [RCV002538227]|not specified [RCV000825769] |
Chr3:45474255 [GRCh38] Chr3:45515747 [GRCh37] Chr3:3p21.31 |
likely benign|uncertain significance |
NM_015340.4(LARS2):c.338G>A (p.Arg113Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002536062]|not provided [RCV001570135]|not specified [RCV000825768] |
Chr3:45400348 [GRCh38] Chr3:45441840 [GRCh37] Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015340.4(LARS2):c.455+222T>G |
single nucleotide variant |
not provided [RCV000844356] |
Chr3:45417795 [GRCh38] Chr3:45459287 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.456-247T>C |
single nucleotide variant |
not provided [RCV000844366] |
Chr3:45419422 [GRCh38] Chr3:45460914 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.859-201G>A |
single nucleotide variant |
not provided [RCV000844367] |
Chr3:45476267 [GRCh38] Chr3:45517759 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.859-161T>C |
single nucleotide variant |
not provided [RCV000844369] |
Chr3:45476307 [GRCh38] Chr3:45517799 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1123+196T>C |
single nucleotide variant |
not provided [RCV000844371] |
Chr3:45485992 [GRCh38] Chr3:45527484 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1124-324C>T |
single nucleotide variant |
not provided [RCV000844373] |
Chr3:45488373 [GRCh38] Chr3:45529865 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2215-224C>T |
single nucleotide variant |
not provided [RCV000844378] |
Chr3:45519995 [GRCh38] Chr3:45561487 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2404+265G>A |
single nucleotide variant |
not provided [RCV000844381] |
Chr3:45524373 [GRCh38] Chr3:45565865 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2269A>T (p.Met757Leu) |
single nucleotide variant |
Perrault syndrome 4 [RCV000850571] |
Chr3:45520273 [GRCh38] Chr3:45561765 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.308G>A (p.Arg103His) |
single nucleotide variant |
Inborn mitochondrial myopathy [RCV000993587] |
Chr3:45400318 [GRCh38] Chr3:45441810 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV000993582] |
Chr3:45491590 [GRCh38] Chr3:45533082 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp) |
single nucleotide variant |
Perrault syndrome 4 [RCV000850570] |
Chr3:45513158 [GRCh38] Chr3:45554650 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1240-288G>A |
single nucleotide variant |
not provided [RCV001544706] |
Chr3:45491229 [GRCh38] Chr3:45532721 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys) |
single nucleotide variant |
Perrault syndrome 4 [RCV001201400]|Perrault syndrome 4 [RCV002482158]|not provided [RCV001862654] |
Chr3:45488810 [GRCh38] Chr3:45530302 [GRCh37] Chr3:3p21.31 |
likely pathogenic|uncertain significance |
NM_015340.4(LARS2):c.230C>A (p.Ala77Asp) |
single nucleotide variant |
not provided [RCV004776938] |
Chr3:45394683 [GRCh38] Chr3:45436175 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2069G>C (p.Arg690Thr) |
single nucleotide variant |
not provided [RCV003127163] |
Chr3:45517927 [GRCh38] Chr3:45559419 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.235-340T>G |
single nucleotide variant |
not provided [RCV001568666] |
Chr3:45399905 [GRCh38] Chr3:45441397 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1813C>T (p.Arg605Cys) |
single nucleotide variant |
not provided [RCV001665199] |
Chr3:45513187 [GRCh38] Chr3:45554679 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1124-32G>A |
single nucleotide variant |
not provided [RCV001551689] |
Chr3:45488665 [GRCh38] Chr3:45530157 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1296G>A (p.Gly432=) |
single nucleotide variant |
LARS2-related disorder [RCV004757464]|not provided [RCV001552308] |
Chr3:45491573 [GRCh38] Chr3:45533065 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1019-218T>A |
single nucleotide variant |
not provided [RCV001548077] |
Chr3:45485474 [GRCh38] Chr3:45526966 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.-87-100C>A |
single nucleotide variant |
not provided [RCV001560147] |
Chr3:45391483 [GRCh38] Chr3:45432975 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1239+51A>G |
single nucleotide variant |
not provided [RCV001560503] |
Chr3:45488863 [GRCh38] Chr3:45530355 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2045-208G>C |
single nucleotide variant |
not provided [RCV001720844] |
Chr3:45517695 [GRCh38] Chr3:45559187 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.607-61C>A |
single nucleotide variant |
not provided [RCV001686946] |
Chr3:45458682 [GRCh38] Chr3:45500174 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2292+98C>T |
single nucleotide variant |
not provided [RCV001555879] |
Chr3:45520394 [GRCh38] Chr3:45561886 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2045-36C>T |
single nucleotide variant |
not provided [RCV001589372] |
Chr3:45517867 [GRCh38] Chr3:45559359 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1239+34A>G |
single nucleotide variant |
not provided [RCV001545295] |
Chr3:45488846 [GRCh38] Chr3:45530338 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1623-149C>T |
single nucleotide variant |
not provided [RCV001667441] |
Chr3:45500293 [GRCh38] Chr3:45541785 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1866C>T (p.Ser622=) |
single nucleotide variant |
not provided [RCV001562745] |
Chr3:45516098 [GRCh38] Chr3:45557590 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1862-12T>C |
single nucleotide variant |
not provided [RCV001551903] |
Chr3:45516082 [GRCh38] Chr3:45557574 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1124-236A>G |
single nucleotide variant |
not provided [RCV001620385] |
Chr3:45488461 [GRCh38] Chr3:45529953 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1557G>A (p.Thr519=) |
single nucleotide variant |
not provided [RCV001587494] |
Chr3:45496308 [GRCh38] Chr3:45537800 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1622+108C>T |
single nucleotide variant |
not provided [RCV001718555] |
Chr3:45496481 [GRCh38] Chr3:45537973 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2257A>G (p.Ile753Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002539599]|not provided [RCV001665203] |
Chr3:45520261 [GRCh38] Chr3:45561753 [GRCh37] Chr3:3p21.31 |
likely benign|uncertain significance |
NM_015340.4(LARS2):c.2044+284G>C |
single nucleotide variant |
not provided [RCV001561756] |
Chr3:45516560 [GRCh38] Chr3:45558052 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2404+173G>T |
single nucleotide variant |
not provided [RCV001557044] |
Chr3:45524281 [GRCh38] Chr3:45565773 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1239+161T>C |
single nucleotide variant |
not provided [RCV001557414] |
Chr3:45488973 [GRCh38] Chr3:45530465 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2533-85C>G |
single nucleotide variant |
not provided [RCV001593798] |
Chr3:45547266 [GRCh38] Chr3:45588758 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2405-24C>A |
single nucleotide variant |
not provided [RCV001560214] |
Chr3:45541805 [GRCh38] Chr3:45583297 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1124-195C>G |
single nucleotide variant |
not provided [RCV001560277] |
Chr3:45488502 [GRCh38] Chr3:45529994 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1861+172del |
deletion |
not provided [RCV001636249] |
Chr3:45513407 [GRCh38] Chr3:45554899 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.607-45dup |
duplication |
not provided [RCV001555614] |
Chr3:45458686..45458687 [GRCh38] Chr3:45500178..45500179 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1974G>T (p.Gly658=) |
single nucleotide variant |
not provided [RCV001574498] |
Chr3:45516206 [GRCh38] Chr3:45557698 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.606+196A>G |
single nucleotide variant |
not provided [RCV001556514] |
Chr3:45447176 [GRCh38] Chr3:45488668 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.795A>G (p.Ile265Met) |
single nucleotide variant |
Perrault syndrome 4 [RCV004808542] |
Chr3:45474287 [GRCh38] Chr3:45515779 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.2292+47G>C |
single nucleotide variant |
not provided [RCV001621655] |
Chr3:45520343 [GRCh38] Chr3:45561835 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.-88+73C>G |
single nucleotide variant |
not provided [RCV001654557] |
Chr3:45388753 [GRCh38] Chr3:45430245 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.607-291G>A |
single nucleotide variant |
not provided [RCV001587133] |
Chr3:45458452 [GRCh38] Chr3:45499944 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.-22+127C>G |
single nucleotide variant |
not provided [RCV001575222] |
Chr3:45391775 [GRCh38] Chr3:45433267 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2293-235C>A |
single nucleotide variant |
not provided [RCV001641074] |
Chr3:45523762 [GRCh38] Chr3:45565254 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.*252C>T |
single nucleotide variant |
not provided [RCV001565688] |
Chr3:45547782 [GRCh38] Chr3:45589274 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1626T>C (p.Pro542=) |
single nucleotide variant |
not specified [RCV001663603] |
Chr3:45500445 [GRCh38] Chr3:45541937 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2292+193del |
deletion |
not provided [RCV001645451] |
Chr3:45520489 [GRCh38] Chr3:45561981 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.456-57dup |
duplication |
not provided [RCV001725651] |
Chr3:45419610..45419611 [GRCh38] Chr3:45461102..45461103 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.750+308G>T |
single nucleotide variant |
not provided [RCV001580821] |
Chr3:45459194 [GRCh38] Chr3:45500686 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.944C>T (p.Ser315Leu) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001333857]|LARS2-related disorder [RCV003953672]|not provided [RCV001664835] |
Chr3:45476553 [GRCh38] Chr3:45518045 [GRCh37] Chr3:3p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val) |
single nucleotide variant |
Perrault syndrome 4 [RCV001262515] |
Chr3:45516211 [GRCh38] Chr3:45557703 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) |
single nucleotide variant |
Perrault syndrome 4 [RCV001283750]|Perrault syndrome [RCV002542964]|not provided [RCV001587314] |
Chr3:45476489 [GRCh38] Chr3:45517981 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) |
single nucleotide variant |
Perrault syndrome 4 [RCV001283751]|Perrault syndrome [RCV002537926]|not provided [RCV001760324] |
Chr3:45496307 [GRCh38] Chr3:45537799 [GRCh37] Chr3:3p21.31 |
pathogenic|uncertain significance|not provided |
D438G |
variation |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001283753] |
Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2402del (p.Ala801fs) |
deletion |
Perrault syndrome 4 [RCV001328894] |
Chr3:45524106 [GRCh38] Chr3:45565598 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2490G>A (p.Pro830=) |
single nucleotide variant |
not provided [RCV002071874]|not specified [RCV001449844] |
Chr3:45541914 [GRCh38] Chr3:45583406 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.326A>G (p.Asp109Gly) |
single nucleotide variant |
Premature ovarian failure [RCV001270193] |
Chr3:45400336 [GRCh38] Chr3:45441828 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.317C>T (p.Thr106Ile) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001333856] |
Chr3:45400327 [GRCh38] Chr3:45441819 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.234+46A>G |
single nucleotide variant |
not provided [RCV001538731] |
Chr3:45394733 [GRCh38] Chr3:45436225 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2421G>A (p.Pro807=) |
single nucleotide variant |
not provided [RCV001534771] |
Chr3:45541845 [GRCh38] Chr3:45583337 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.-21-76A>T |
single nucleotide variant |
not provided [RCV001536481] |
Chr3:45394357 [GRCh38] Chr3:45435849 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2215-136T>G |
single nucleotide variant |
not provided [RCV001590658] |
Chr3:45520083 [GRCh38] Chr3:45561575 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1123+221AAG[3] |
microsatellite |
not provided [RCV001617344] |
Chr3:45486016..45486017 [GRCh38] Chr3:45527508..45527509 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.-109G>A |
single nucleotide variant |
not provided [RCV001716225] |
Chr3:45388659 [GRCh38] Chr3:45430151 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.517-221C>T |
single nucleotide variant |
not provided [RCV001591488] |
Chr3:45446670 [GRCh38] Chr3:45488162 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2405-23G>A |
single nucleotide variant |
not provided [RCV001618091] |
Chr3:45541806 [GRCh38] Chr3:45583298 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.-21-243T>C |
single nucleotide variant |
not provided [RCV001590315] |
Chr3:45394190 [GRCh38] Chr3:45435682 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1017A>G (p.Lys339=) |
single nucleotide variant |
not provided [RCV003107269] |
Chr3:45476626 [GRCh38] Chr3:45518118 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1867G>A (p.Val623Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004985271]|not provided [RCV003108684] |
Chr3:45516099 [GRCh38] Chr3:45557591 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.762C>T (p.Asp254=) |
single nucleotide variant |
not provided [RCV003109046] |
Chr3:45474254 [GRCh38] Chr3:45515746 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.125G>A (p.Ser42Asn) |
single nucleotide variant |
not provided [RCV001761470] |
Chr3:45394578 [GRCh38] Chr3:45436070 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2285C>A (p.Ala762Asp) |
single nucleotide variant |
Perrault syndrome 4 [RCV001733675] |
Chr3:45520289 [GRCh38] Chr3:45561781 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1514C>T (p.Ser505Phe) |
single nucleotide variant |
not provided [RCV001763469] |
Chr3:45491791 [GRCh38] Chr3:45533283 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.424A>G (p.Arg142Gly) |
single nucleotide variant |
not provided [RCV001772868] |
Chr3:45417542 [GRCh38] Chr3:45459034 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.863A>T (p.His288Leu) |
single nucleotide variant |
not provided [RCV001757229] |
Chr3:45476472 [GRCh38] Chr3:45517964 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1058A>C (p.Gln353Pro) |
single nucleotide variant |
not provided [RCV001800017] |
Chr3:45485731 [GRCh38] Chr3:45527223 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.739G>A (p.Ala247Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004988747]|not provided [RCV001787662] |
Chr3:45458875 [GRCh38] Chr3:45500367 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2168C>A (p.Ala723Asp) |
single nucleotide variant |
not provided [RCV004798203] |
Chr3:45518026 [GRCh38] Chr3:45559518 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1908G>A (p.Thr636=) |
single nucleotide variant |
not provided [RCV001987872] |
Chr3:45516140 [GRCh38] Chr3:45557632 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.529T>A (p.Cys177Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002542725]|not provided [RCV001823355] |
Chr3:45446903 [GRCh38] Chr3:45488395 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.487C>T (p.Arg163Cys) |
single nucleotide variant |
not provided [RCV002044828] |
Chr3:45419700 [GRCh38] Chr3:45461192 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1783del (p.Ala595fs) |
deletion |
Perrault syndrome 4 [RCV001823239] |
Chr3:45513156 [GRCh38] Chr3:45554648 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.275A>T (p.Tyr92Phe) |
single nucleotide variant |
not provided [RCV001870897] |
Chr3:45400285 [GRCh38] Chr3:45441777 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.670G>A (p.Gly224Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002657732]|not provided [RCV002020429] |
Chr3:45458806 [GRCh38] Chr3:45500298 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.41_42del (p.Leu14fs) |
deletion |
Perrault syndrome 4 [RCV001823289] |
Chr3:45394494..45394495 [GRCh38] Chr3:45435986..45435987 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.682C>T (p.Arg228Cys) |
single nucleotide variant |
not provided [RCV001894350] |
Chr3:45458818 [GRCh38] Chr3:45500310 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.520A>G (p.Ile174Val) |
single nucleotide variant |
not provided [RCV001966804] |
Chr3:45446894 [GRCh38] Chr3:45488386 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1738G>T (p.Asp580Tyr) |
single nucleotide variant |
not provided [RCV001968424] |
Chr3:45500557 [GRCh38] Chr3:45542049 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2134C>T (p.Pro712Ser) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV001844371] |
Chr3:45517992 [GRCh38] Chr3:45559484 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1051C>T (p.Leu351Phe) |
single nucleotide variant |
not provided [RCV001968928] |
Chr3:45485724 [GRCh38] Chr3:45527216 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.919T>A (p.Tyr307Asn) |
single nucleotide variant |
not provided [RCV001947327] |
Chr3:45476528 [GRCh38] Chr3:45518020 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1524-1G>T |
single nucleotide variant |
not provided [RCV001872146] |
Chr3:45496274 [GRCh38] Chr3:45537766 [GRCh37] Chr3:3p21.31 |
likely pathogenic|uncertain significance |
NM_015340.4(LARS2):c.1450A>G (p.Ile484Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004044400]|not provided [RCV001963320] |
Chr3:45491727 [GRCh38] Chr3:45533219 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.145A>G (p.Lys49Glu) |
single nucleotide variant |
not provided [RCV002020150] |
Chr3:45394598 [GRCh38] Chr3:45436090 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1075G>A (p.Val359Ile) |
single nucleotide variant |
not provided [RCV001898229] |
Chr3:45485748 [GRCh38] Chr3:45527240 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.726T>G (p.Phe242Leu) |
single nucleotide variant |
not provided [RCV001881847] |
Chr3:45458862 [GRCh38] Chr3:45500354 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.256G>A (p.Val86Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002557680]|not provided [RCV001930398] |
Chr3:45400266 [GRCh38] Chr3:45441758 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2291C>G (p.Ser764Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004988910]|LARS2-related disorder [RCV004757493]|not provided [RCV001925954] |
Chr3:45520295 [GRCh38] Chr3:45561787 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2546C>G (p.Ala849Gly) |
single nucleotide variant |
not provided [RCV002034806] |
Chr3:45547364 [GRCh38] Chr3:45588856 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.186G>A (p.Trp62Ter) |
single nucleotide variant |
not provided [RCV001937784] |
Chr3:45394639 [GRCh38] Chr3:45436131 [GRCh37] Chr3:3p21.31 |
pathogenic|uncertain significance |
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln) |
single nucleotide variant |
Perrault syndrome [RCV002555356]|not provided [RCV001901557] |
Chr3:45491635 [GRCh38] Chr3:45533127 [GRCh37] Chr3:3p21.31 |
uncertain significance|not provided |
NM_015340.4(LARS2):c.1540_1541del (p.Lys514fs) |
deletion |
not provided [RCV001866566] |
Chr3:45496291..45496292 [GRCh38] Chr3:45537783..45537784 [GRCh37] Chr3:3p21.31 |
pathogenic|uncertain significance |
NM_015340.4(LARS2):c.2540A>G (p.Asn847Ser) |
single nucleotide variant |
Perrault syndrome 4 [RCV002490119]|not provided [RCV001897646] |
Chr3:45547358 [GRCh38] Chr3:45588850 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2405-11C>T |
single nucleotide variant |
not provided [RCV002128900] |
Chr3:45541818 [GRCh38] Chr3:45583310 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2382T>C (p.His794=) |
single nucleotide variant |
not provided [RCV002088921] |
Chr3:45524086 [GRCh38] Chr3:45565578 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2215-12C>G |
single nucleotide variant |
not provided [RCV002131929] |
Chr3:45520207 [GRCh38] Chr3:45561699 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2292+20T>C |
single nucleotide variant |
not provided [RCV002116309] |
Chr3:45520316 [GRCh38] Chr3:45561808 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.855A>G (p.Leu285=) |
single nucleotide variant |
not provided [RCV002086132] |
Chr3:45474347 [GRCh38] Chr3:45515839 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.89G>A (p.Arg30Lys) |
single nucleotide variant |
not provided [RCV002214283] |
Chr3:45394542 [GRCh38] Chr3:45436034 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1974G>A (p.Gly658=) |
single nucleotide variant |
not provided [RCV002078602] |
Chr3:45516206 [GRCh38] Chr3:45557698 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1476C>T (p.Gly492=) |
single nucleotide variant |
not provided [RCV002075853] |
Chr3:45491753 [GRCh38] Chr3:45533245 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2535C>T (p.Ile845=) |
single nucleotide variant |
not provided [RCV002123846] |
Chr3:45547353 [GRCh38] Chr3:45588845 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.363+8C>T |
single nucleotide variant |
not provided [RCV002138228] |
Chr3:45400381 [GRCh38] Chr3:45441873 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1314C>T (p.Asp438=) |
single nucleotide variant |
not provided [RCV002162083] |
Chr3:45491591 [GRCh38] Chr3:45533083 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1255C>T (p.Arg419Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004985272]|not provided [RCV003110704] |
Chr3:45491532 [GRCh38] Chr3:45533024 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NC_000003.11:g.(?_45435946)_(49137751_?)dup |
duplication |
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome [RCV003116297] |
Chr3:45435946..49137751 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1518C>T (p.Cys506=) |
single nucleotide variant |
not provided [RCV003115872] |
Chr3:45491795 [GRCh38] Chr3:45533287 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1342C>T (p.Leu448=) |
single nucleotide variant |
not provided [RCV003115915] |
Chr3:45491619 [GRCh38] Chr3:45533111 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2319C>T (p.His773=) |
single nucleotide variant |
not provided [RCV003115114] |
Chr3:45524023 [GRCh38] Chr3:45565515 [GRCh37] Chr3:3p21.31 |
likely benign |
NC_000003.11:g.(?_45588823)_(45589022_?)del |
deletion |
not provided [RCV003119580] |
Chr3:45588823..45589022 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2571A>C (p.Gln857His) |
single nucleotide variant |
not specified [RCV004783707] |
Chr3:45547389 [GRCh38] Chr3:45588881 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1108C>A (p.Leu370Met) |
single nucleotide variant |
not provided [RCV004784355] |
Chr3:45485781 [GRCh38] Chr3:45527273 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.620G>A (p.Trp207Ter) |
single nucleotide variant |
Perrault syndrome 4 [RCV004797226] |
Chr3:45458756 [GRCh38] Chr3:45500248 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.2018A>G (p.Glu673Gly) |
single nucleotide variant |
not provided [RCV003129172] |
Chr3:45516250 [GRCh38] Chr3:45557742 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.788A>T (p.Tyr263Phe) |
single nucleotide variant |
not provided [RCV002274619] |
Chr3:45474280 [GRCh38] Chr3:45515772 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1136C>G (p.Thr379Ser) |
single nucleotide variant |
not provided [RCV002286893] |
Chr3:45488709 [GRCh38] Chr3:45530201 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1907C>T (p.Thr636Met) |
single nucleotide variant |
not provided [RCV002293087] |
Chr3:45516139 [GRCh38] Chr3:45557631 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.668A>G (p.His223Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003340471]|not provided [RCV002279129] |
Chr3:45458804 [GRCh38] Chr3:45500296 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2072G>A (p.Trp691Ter) |
single nucleotide variant |
Perrault syndrome 4 [RCV002288249] |
Chr3:45517930 [GRCh38] Chr3:45559422 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1663G>C (p.Asp555His) |
single nucleotide variant |
not provided [RCV002269503] |
Chr3:45500482 [GRCh38] Chr3:45541974 [GRCh37] Chr3:3p21.31 |
uncertain significance |
GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1 |
copy number loss |
not provided [RCV002279744] |
Chr3:44948482..49115809 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2536A>G (p.Asn846Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003096358]|not provided [RCV002283331] |
Chr3:45547354 [GRCh38] Chr3:45588846 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1670A>G (p.Tyr557Cys) |
single nucleotide variant |
Perrault syndrome 4 [RCV002279768] |
Chr3:45500489 [GRCh38] Chr3:45541981 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.1761-2A>C |
single nucleotide variant |
not provided [RCV002291067] |
Chr3:45513133 [GRCh38] Chr3:45554625 [GRCh37] Chr3:3p21.31 |
not provided |
NM_015340.4(LARS2):c.2608G>T (p.Val870Phe) |
single nucleotide variant |
Perrault syndrome 4 [RCV002288250] |
Chr3:45547426 [GRCh38] Chr3:45588918 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1801G>A (p.Gly601Arg) |
single nucleotide variant |
not provided [RCV003149292] |
Chr3:45513175 [GRCh38] Chr3:45554667 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1564A>G (p.Thr522Ala) |
single nucleotide variant |
not provided [RCV002467219] |
Chr3:45496315 [GRCh38] Chr3:45537807 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr) |
single nucleotide variant |
LARS2-related disorder [RCV004731514]|Perrault syndrome 4 [RCV003156713] |
Chr3:45485752 [GRCh38] Chr3:45527244 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.800G>A (p.Gly267Asp) |
single nucleotide variant |
not provided [RCV003154345] |
Chr3:45474292 [GRCh38] Chr3:45515784 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1672A>G (p.Ile558Val) |
single nucleotide variant |
not provided [RCV002296014] |
Chr3:45500491 [GRCh38] Chr3:45541983 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1453_1455delinsACA (p.Ala485Thr) |
indel |
not provided [RCV002300705] |
Chr3:45491730..45491732 [GRCh38] Chr3:45533222..45533224 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.557A>G (p.Gln186Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002729118] |
Chr3:45446931 [GRCh38] Chr3:45488423 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.331A>G (p.Ile111Val) |
single nucleotide variant |
not provided [RCV002613816] |
Chr3:45400341 [GRCh38] Chr3:45441833 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1862-16T>G |
single nucleotide variant |
not provided [RCV002842027] |
Chr3:45516078 [GRCh38] Chr3:45557570 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1453G>A (p.Ala485Thr) |
single nucleotide variant |
not provided [RCV002615910] |
Chr3:45491730 [GRCh38] Chr3:45533222 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.574C>T (p.Leu192=) |
single nucleotide variant |
not provided [RCV003032798] |
Chr3:45446948 [GRCh38] Chr3:45488440 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.569T>A (p.Ile190Asn) |
single nucleotide variant |
not provided [RCV002776590] |
Chr3:45446943 [GRCh38] Chr3:45488435 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1478C>A (p.Pro493His) |
single nucleotide variant |
not provided [RCV002972417] |
Chr3:45491755 [GRCh38] Chr3:45533247 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.420C>A (p.Val140=) |
single nucleotide variant |
not provided [RCV002617548] |
Chr3:45417538 [GRCh38] Chr3:45459030 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.478C>T (p.Gln160Ter) |
single nucleotide variant |
not provided [RCV002730364] |
Chr3:45419691 [GRCh38] Chr3:45461183 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.414C>T (p.Ala138=) |
single nucleotide variant |
LARS2-related disorder [RCV003943703]|not provided [RCV002995672] |
Chr3:45417532 [GRCh38] Chr3:45459024 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2090C>T (p.Thr697Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002774732] |
Chr3:45517948 [GRCh38] Chr3:45559440 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2311A>T (p.Ile771Phe) |
single nucleotide variant |
not provided [RCV002617502] |
Chr3:45524015 [GRCh38] Chr3:45565507 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.548A>G (p.Lys183Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002779254] |
Chr3:45446922 [GRCh38] Chr3:45488414 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2282A>G (p.Asn761Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004983181]|not provided [RCV002908749] |
Chr3:45520286 [GRCh38] Chr3:45561778 [GRCh37] Chr3:3p21.31 |
likely benign|uncertain significance |
NM_015340.4(LARS2):c.2521A>G (p.Met841Val) |
single nucleotide variant |
not provided [RCV002462388] |
Chr3:45541945 [GRCh38] Chr3:45583437 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2251T>C (p.Ser751Pro) |
single nucleotide variant |
not provided [RCV003016558] |
Chr3:45520255 [GRCh38] Chr3:45561747 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1887G>A (p.Thr629=) |
single nucleotide variant |
not provided [RCV002617979] |
Chr3:45516119 [GRCh38] Chr3:45557611 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.220A>G (p.Ile74Val) |
single nucleotide variant |
not provided [RCV002994668] |
Chr3:45394673 [GRCh38] Chr3:45436165 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.986A>G (p.Glu329Gly) |
single nucleotide variant |
not provided [RCV002842416] |
Chr3:45476595 [GRCh38] Chr3:45518087 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1922G>A (p.Ser641Asn) |
single nucleotide variant |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome [RCV003147802]|Inborn genetic diseases [RCV002927789]|Perrault syndrome 4 [RCV003147801]|not provided [RCV002927790] |
Chr3:45516154 [GRCh38] Chr3:45557646 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1240-7C>T |
single nucleotide variant |
LARS2-related disorder [RCV003898807]|not provided [RCV003080940] |
Chr3:45491510 [GRCh38] Chr3:45533002 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1623-10T>G |
single nucleotide variant |
not provided [RCV003002895] |
Chr3:45500432 [GRCh38] Chr3:45541924 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2189A>C (p.Glu730Ala) |
single nucleotide variant |
not provided [RCV002928096] |
Chr3:45518047 [GRCh38] Chr3:45559539 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1692C>A (p.Ala564=) |
single nucleotide variant |
not provided [RCV002889914] |
Chr3:45500511 [GRCh38] Chr3:45542003 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2506C>G (p.Pro836Ala) |
single nucleotide variant |
not provided [RCV002622348] |
Chr3:45541930 [GRCh38] Chr3:45583422 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2373G>A (p.Leu791=) |
single nucleotide variant |
not provided [RCV002696193] |
Chr3:45524077 [GRCh38] Chr3:45565569 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2202C>T (p.Ser734=) |
single nucleotide variant |
not provided [RCV002570124] |
Chr3:45518060 [GRCh38] Chr3:45559552 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.901G>A (p.Ala301Thr) |
single nucleotide variant |
not provided [RCV002690820] |
Chr3:45476510 [GRCh38] Chr3:45518002 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2293-1G>A |
single nucleotide variant |
not provided [RCV002847725] |
Chr3:45523996 [GRCh38] Chr3:45565488 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1050G>T (p.Met350Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002797780] |
Chr3:45485723 [GRCh38] Chr3:45527215 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.364G>A (p.Val122Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002887883] |
Chr3:45417482 [GRCh38] Chr3:45458974 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1481C>T (p.Pro494Leu) |
single nucleotide variant |
not provided [RCV003053141] |
Chr3:45491758 [GRCh38] Chr3:45533250 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.315C>T (p.Tyr105=) |
single nucleotide variant |
not provided [RCV002780612] |
Chr3:45400325 [GRCh38] Chr3:45441817 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.606+5G>A |
single nucleotide variant |
not provided [RCV002948505] |
Chr3:45446985 [GRCh38] Chr3:45488477 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1360T>C (p.Tyr454His) |
single nucleotide variant |
not provided [RCV002795405] |
Chr3:45491637 [GRCh38] Chr3:45533129 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.818T>C (p.Ile273Thr) |
single nucleotide variant |
not provided [RCV002590865] |
Chr3:45474310 [GRCh38] Chr3:45515802 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2641C>T (p.Gln881Ter) |
single nucleotide variant |
not provided [RCV002820506] |
Chr3:45547459 [GRCh38] Chr3:45588951 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.472A>G (p.Arg158Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002884812] |
Chr3:45419685 [GRCh38] Chr3:45461177 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.896A>G (p.Tyr299Cys) |
single nucleotide variant |
not provided [RCV002976152] |
Chr3:45476505 [GRCh38] Chr3:45517997 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2080C>T (p.Arg694Ter) |
single nucleotide variant |
not provided [RCV002622014] |
Chr3:45517938 [GRCh38] Chr3:45559430 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2308G>A (p.Val770Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003100222]|not provided [RCV003086695] |
Chr3:45524012 [GRCh38] Chr3:45565504 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2292+14C>A |
single nucleotide variant |
not provided [RCV002592778] |
Chr3:45520310 [GRCh38] Chr3:45561802 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.234+20C>T |
single nucleotide variant |
not provided [RCV002590532] |
Chr3:45394707 [GRCh38] Chr3:45436199 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2044+13C>A |
single nucleotide variant |
not provided [RCV002820836] |
Chr3:45516289 [GRCh38] Chr3:45557781 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.456-2A>G |
single nucleotide variant |
not provided [RCV002853454] |
Chr3:45419667 [GRCh38] Chr3:45461159 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.276T>A (p.Tyr92Ter) |
single nucleotide variant |
not provided [RCV003043643] |
Chr3:45400286 [GRCh38] Chr3:45441778 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.1160C>A (p.Ala387Asp) |
single nucleotide variant |
not provided [RCV002829515] |
Chr3:45488733 [GRCh38] Chr3:45530225 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.764C>T (p.Ala255Val) |
single nucleotide variant |
Perrault syndrome 4 [RCV005052859]|not provided [RCV002594332] |
Chr3:45474256 [GRCh38] Chr3:45515748 [GRCh37] Chr3:3p21.31 |
likely pathogenic|uncertain significance |
NM_015340.4(LARS2):c.2405-9G>A |
single nucleotide variant |
not provided [RCV003082380] |
Chr3:45541820 [GRCh38] Chr3:45583312 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.421G>A (p.Glu141Lys) |
single nucleotide variant |
not provided [RCV003042205] |
Chr3:45417539 [GRCh38] Chr3:45459031 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1761-20T>C |
single nucleotide variant |
not provided [RCV002852818] |
Chr3:45513115 [GRCh38] Chr3:45554607 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1693G>A (p.Val565Ile) |
single nucleotide variant |
not provided [RCV002985530] |
Chr3:45500512 [GRCh38] Chr3:45542004 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1019-12T>C |
single nucleotide variant |
not provided [RCV002851004] |
Chr3:45485680 [GRCh38] Chr3:45527172 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1239+20C>A |
single nucleotide variant |
not provided [RCV002573732] |
Chr3:45488832 [GRCh38] Chr3:45530324 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2581C>G (p.Arg861Gly) |
single nucleotide variant |
not provided [RCV002851612] |
Chr3:45547399 [GRCh38] Chr3:45588891 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.973A>G (p.Ser325Gly) |
single nucleotide variant |
not provided [RCV002666679] |
Chr3:45476582 [GRCh38] Chr3:45518074 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.363+14C>T |
single nucleotide variant |
not provided [RCV002593681] |
Chr3:45400387 [GRCh38] Chr3:45441879 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1381A>G (p.Ile461Val) |
single nucleotide variant |
not provided [RCV003039707] |
Chr3:45491658 [GRCh38] Chr3:45533150 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2489C>T (p.Pro830Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003274287]|not provided [RCV002643763] |
Chr3:45541913 [GRCh38] Chr3:45583405 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.351G>C (p.Met117Ile) |
single nucleotide variant |
Perrault syndrome [RCV002640762] |
Chr3:45400361 [GRCh38] Chr3:45441853 [GRCh37] Chr3:3p21.31 |
not provided |
NM_015340.4(LARS2):c.1408A>G (p.Thr470Ala) |
single nucleotide variant |
not provided [RCV002933143] |
Chr3:45491685 [GRCh38] Chr3:45533177 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.582G>T (p.Glu194Asp) |
single nucleotide variant |
not provided [RCV003025254] |
Chr3:45446956 [GRCh38] Chr3:45488448 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1764G>T (p.Glu588Asp) |
single nucleotide variant |
not provided [RCV002953998] |
Chr3:45513138 [GRCh38] Chr3:45554630 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.540T>A (p.Asp180Glu) |
single nucleotide variant |
not provided [RCV002791344] |
Chr3:45446914 [GRCh38] Chr3:45488406 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2405-13C>T |
single nucleotide variant |
not provided [RCV003023798] |
Chr3:45541816 [GRCh38] Chr3:45583308 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2465T>G (p.Leu822Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002874505] |
Chr3:45541889 [GRCh38] Chr3:45583381 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1029G>T (p.Thr343=) |
single nucleotide variant |
not provided [RCV002957721] |
Chr3:45485702 [GRCh38] Chr3:45527194 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1027A>G (p.Thr343Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004983021]|not provided [RCV002597049] |
Chr3:45485700 [GRCh38] Chr3:45527192 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.344A>G (p.Gln115Arg) |
single nucleotide variant |
not provided [RCV002573157] |
Chr3:45400354 [GRCh38] Chr3:45441846 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1644C>G (p.Ala548=) |
single nucleotide variant |
not provided [RCV002700152] |
Chr3:45500463 [GRCh38] Chr3:45541955 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.277C>T (p.Pro93Ser) |
single nucleotide variant |
not provided [RCV002914804] |
Chr3:45400287 [GRCh38] Chr3:45441779 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1222C>A (p.Leu408Met) |
single nucleotide variant |
not provided [RCV002985379] |
Chr3:45488795 [GRCh38] Chr3:45530287 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.876G>A (p.Thr292=) |
single nucleotide variant |
not provided [RCV002593505] |
Chr3:45476485 [GRCh38] Chr3:45517977 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.579T>C (p.Tyr193=) |
single nucleotide variant |
not provided [RCV002872183] |
Chr3:45446953 [GRCh38] Chr3:45488445 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1028C>T (p.Thr343Met) |
single nucleotide variant |
not provided [RCV003084863] |
Chr3:45485701 [GRCh38] Chr3:45527193 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2405-10G>A |
single nucleotide variant |
not provided [RCV003025072] |
Chr3:45541819 [GRCh38] Chr3:45583311 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1261G>C (p.Asp421His) |
single nucleotide variant |
not provided [RCV002572952] |
Chr3:45491538 [GRCh38] Chr3:45533030 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.146_147del (p.Lys49fs) |
deletion |
not provided [RCV002872386] |
Chr3:45394597..45394598 [GRCh38] Chr3:45436089..45436090 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2325C>T (p.Pro775=) |
single nucleotide variant |
not provided [RCV002667531] |
Chr3:45524029 [GRCh38] Chr3:45565521 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2495T>A (p.Phe832Tyr) |
single nucleotide variant |
not provided [RCV003085331] |
Chr3:45541919 [GRCh38] Chr3:45583411 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1404C>A (p.Gly468=) |
single nucleotide variant |
not provided [RCV003059278] |
Chr3:45491681 [GRCh38] Chr3:45533173 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2568C>T (p.Pro856=) |
single nucleotide variant |
not provided [RCV002829686] |
Chr3:45547386 [GRCh38] Chr3:45588878 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1111G>A (p.Asp371Asn) |
single nucleotide variant |
not provided [RCV002720953] |
Chr3:45485784 [GRCh38] Chr3:45527276 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1287del (p.Ala430fs) |
deletion |
not provided [RCV002716296] |
Chr3:45491562 [GRCh38] Chr3:45533054 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.239C>T (p.Ser80Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003089359]|not provided [RCV003089360] |
Chr3:45400249 [GRCh38] Chr3:45441741 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2675C>T (p.Pro892Leu) |
single nucleotide variant |
not provided [RCV002650223] |
Chr3:45547493 [GRCh38] Chr3:45588985 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1018+19G>A |
single nucleotide variant |
not provided [RCV002600654] |
Chr3:45476646 [GRCh38] Chr3:45518138 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.858G>T (p.Lys286Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002831158] |
Chr3:45474350 [GRCh38] Chr3:45515842 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1123+19G>A |
single nucleotide variant |
not provided [RCV002834970] |
Chr3:45485815 [GRCh38] Chr3:45527307 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1861+14A>T |
single nucleotide variant |
not provided [RCV003029015] |
Chr3:45513249 [GRCh38] Chr3:45554741 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.300C>T (p.Gly100=) |
single nucleotide variant |
not provided [RCV002899438] |
Chr3:45400310 [GRCh38] Chr3:45441802 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1761-19T>G |
single nucleotide variant |
not provided [RCV002877553] |
Chr3:45513116 [GRCh38] Chr3:45554608 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.879C>A (p.Gly293=) |
single nucleotide variant |
not provided [RCV002899683] |
Chr3:45476488 [GRCh38] Chr3:45517980 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.750+14T>C |
single nucleotide variant |
not provided [RCV002806203] |
Chr3:45458900 [GRCh38] Chr3:45500392 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.1335A>G (p.Lys445=) |
single nucleotide variant |
not provided [RCV002630790] |
Chr3:45491612 [GRCh38] Chr3:45533104 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.148G>A (p.Glu50Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003161802]|not provided [RCV003091717] |
Chr3:45394601 [GRCh38] Chr3:45436093 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2102G>A (p.Arg701Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002897795] |
Chr3:45517960 [GRCh38] Chr3:45559452 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1218G>A (p.Glu406=) |
single nucleotide variant |
not provided [RCV002877274] |
Chr3:45488791 [GRCh38] Chr3:45530283 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1123+12T>C |
single nucleotide variant |
not provided [RCV003026706] |
Chr3:45485808 [GRCh38] Chr3:45527300 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2081G>A (p.Arg694Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002703213] |
Chr3:45517939 [GRCh38] Chr3:45559431 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1029G>A (p.Thr343=) |
single nucleotide variant |
not provided [RCV002600825] |
Chr3:45485702 [GRCh38] Chr3:45527194 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2044+18del |
deletion |
not provided [RCV002877384] |
Chr3:45516293 [GRCh38] Chr3:45557785 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1345A>G (p.Ile449Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002920827] |
Chr3:45491622 [GRCh38] Chr3:45533114 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2582G>A (p.Arg861Gln) |
single nucleotide variant |
not provided [RCV002582373] |
Chr3:45547400 [GRCh38] Chr3:45588892 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.890C>G (p.Thr297Ser) |
single nucleotide variant |
not provided [RCV002582380] |
Chr3:45476499 [GRCh38] Chr3:45517991 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2293-13T>C |
single nucleotide variant |
not provided [RCV002605597] |
Chr3:45523984 [GRCh38] Chr3:45565476 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2350C>T (p.Leu784=) |
single nucleotide variant |
not provided [RCV002605655] |
Chr3:45524054 [GRCh38] Chr3:45565546 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2532+7A>G |
single nucleotide variant |
not provided [RCV002634835] |
Chr3:45541963 [GRCh38] Chr3:45583455 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1536A>G (p.Ala512=) |
single nucleotide variant |
not provided [RCV003067966] |
Chr3:45496287 [GRCh38] Chr3:45537779 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.715A>G (p.Arg239Gly) |
single nucleotide variant |
not provided [RCV003052040] |
Chr3:45458851 [GRCh38] Chr3:45500343 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2581C>T (p.Arg861Trp) |
single nucleotide variant |
not provided [RCV002634779] |
Chr3:45547399 [GRCh38] Chr3:45588891 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1623-5dup |
duplication |
not provided [RCV002604463] |
Chr3:45500431..45500432 [GRCh38] Chr3:45541923..45541924 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.98T>C (p.Ile33Thr) |
single nucleotide variant |
not provided [RCV002606010] |
Chr3:45394551 [GRCh38] Chr3:45436043 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.135A>T (p.Gly45=) |
single nucleotide variant |
not provided [RCV002590312] |
Chr3:45394588 [GRCh38] Chr3:45436080 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1523+6G>T |
single nucleotide variant |
not provided [RCV002590267] |
Chr3:45491806 [GRCh38] Chr3:45533298 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2563G>C (p.Val855Leu) |
single nucleotide variant |
not provided [RCV002611161] |
Chr3:45547381 [GRCh38] Chr3:45588873 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2217G>A (p.Val739=) |
single nucleotide variant |
not provided [RCV002582787] |
Chr3:45520221 [GRCh38] Chr3:45561713 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2635C>T (p.Leu879Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004985229]|not provided [RCV002611481] |
Chr3:45547453 [GRCh38] Chr3:45588945 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2412G>A (p.Ala804=) |
single nucleotide variant |
LARS2-related disorder [RCV003953879]|not provided [RCV003070122] |
Chr3:45541836 [GRCh38] Chr3:45583328 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.103G>A (p.Gly35Arg) |
single nucleotide variant |
not provided [RCV002606597] |
Chr3:45394556 [GRCh38] Chr3:45436048 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.455+13A>G |
single nucleotide variant |
not provided [RCV002583292] |
Chr3:45417586 [GRCh38] Chr3:45459078 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.234+18T>G |
single nucleotide variant |
not provided [RCV002583356] |
Chr3:45394705 [GRCh38] Chr3:45436197 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.750+13C>T |
single nucleotide variant |
not provided [RCV002676789] |
Chr3:45458899 [GRCh38] Chr3:45500391 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1645G>A (p.Asp549Asn) |
single nucleotide variant |
not provided [RCV002943433] |
Chr3:45500464 [GRCh38] Chr3:45541956 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2101C>G (p.Arg701Gly) |
single nucleotide variant |
not provided [RCV003149496] |
Chr3:45517959 [GRCh38] Chr3:45559451 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.359T>C (p.Met120Thr) |
single nucleotide variant |
not provided [RCV003229439] |
Chr3:45400369 [GRCh38] Chr3:45441861 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1475G>T (p.Gly492Val) |
single nucleotide variant |
not provided [RCV003229366] |
Chr3:45491752 [GRCh38] Chr3:45533244 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2326G>A (p.Glu776Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003192055]|not provided [RCV004593235] |
Chr3:45524030 [GRCh38] Chr3:45565522 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1318A>G (p.Thr440Ala) |
single nucleotide variant |
not provided [RCV003134044] |
Chr3:45491595 [GRCh38] Chr3:45533087 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1982C>T (p.Thr661Met) |
single nucleotide variant |
not provided [RCV003134045] |
Chr3:45516214 [GRCh38] Chr3:45557706 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1291C>T (p.Arg431Trp) |
single nucleotide variant |
Perrault syndrome 4 [RCV003340710] |
Chr3:45491568 [GRCh38] Chr3:45533060 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2671T>A (p.Ser891Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003346106] |
Chr3:45547489 [GRCh38] Chr3:45588981 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.511G>T (p.Asp171Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003379863] |
Chr3:45419724 [GRCh38] Chr3:45461216 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2464C>T (p.Leu822Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003373523] |
Chr3:45541888 [GRCh38] Chr3:45583380 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1275C>G (p.Ala425=) |
single nucleotide variant |
not provided [RCV003571877] |
Chr3:45491552 [GRCh38] Chr3:45533044 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2404+9del |
deletion |
not provided [RCV003686221] |
Chr3:45524117 [GRCh38] Chr3:45565609 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1622+9T>C |
single nucleotide variant |
not provided [RCV003826452] |
Chr3:45496382 [GRCh38] Chr3:45537874 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2140C>T (p.Pro714Ser) |
single nucleotide variant |
not provided [RCV004786031] |
Chr3:45517998 [GRCh38] Chr3:45559490 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.732G>A (p.Lys244=) |
single nucleotide variant |
not provided [RCV003437792] |
Chr3:45458868 [GRCh38] Chr3:45500360 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2215-1G>C |
single nucleotide variant |
not provided [RCV003829217] |
Chr3:45520218 [GRCh38] Chr3:45561710 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.2412G>T (p.Ala804=) |
single nucleotide variant |
not provided [RCV003830666] |
Chr3:45541836 [GRCh38] Chr3:45583328 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2533-17G>A |
single nucleotide variant |
not provided [RCV003712943] |
Chr3:45547334 [GRCh38] Chr3:45588826 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1249A>G (p.Met417Val) |
single nucleotide variant |
Perrault syndrome 4 [RCV003992775]|not provided [RCV003546333] |
Chr3:45491526 [GRCh38] Chr3:45533018 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic|uncertain significance |
NM_015340.4(LARS2):c.665A>G (p.Glu222Gly) |
single nucleotide variant |
not provided [RCV003714798] |
Chr3:45458801 [GRCh38] Chr3:45500293 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1861+17T>C |
single nucleotide variant |
not provided [RCV003544110] |
Chr3:45513252 [GRCh38] Chr3:45554744 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.444T>C (p.Ser148=) |
single nucleotide variant |
not provided [RCV003575610] |
Chr3:45417562 [GRCh38] Chr3:45459054 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.196C>T (p.Arg66Ter) |
single nucleotide variant |
not provided [RCV003489385] |
Chr3:45394649 [GRCh38] Chr3:45436141 [GRCh37] Chr3:3p21.31 |
pathogenic|likely pathogenic |
NM_015340.4(LARS2):c.1018+12A>T |
single nucleotide variant |
not provided [RCV003578792] |
Chr3:45476639 [GRCh38] Chr3:45518131 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1569T>C (p.Phe523=) |
single nucleotide variant |
not provided [RCV003666007] |
Chr3:45496320 [GRCh38] Chr3:45537812 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1111del (p.Asp371fs) |
deletion |
not provided [RCV003662818] |
Chr3:45485783 [GRCh38] Chr3:45527275 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.933C>T (p.His311=) |
single nucleotide variant |
not provided [RCV003878761] |
Chr3:45476542 [GRCh38] Chr3:45518034 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.435T>C (p.His145=) |
single nucleotide variant |
not provided [RCV003716674] |
Chr3:45417553 [GRCh38] Chr3:45459045 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.678A>G (p.Ser226=) |
single nucleotide variant |
not provided [RCV003835400] |
Chr3:45458814 [GRCh38] Chr3:45500306 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1760+8C>G |
single nucleotide variant |
not provided [RCV003840071] |
Chr3:45500587 [GRCh38] Chr3:45542079 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2044+14C>T |
single nucleotide variant |
not provided [RCV003669492] |
Chr3:45516290 [GRCh38] Chr3:45557782 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.393T>C (p.Phe131=) |
single nucleotide variant |
not provided [RCV003703633] |
Chr3:45417511 [GRCh38] Chr3:45459003 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.380del (p.Gly127fs) |
deletion |
not provided [RCV003702104] |
Chr3:45417496 [GRCh38] Chr3:45458988 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2432G>T (p.Cys811Phe) |
single nucleotide variant |
not provided [RCV003817660] |
Chr3:45541856 [GRCh38] Chr3:45583348 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.966T>C (p.His322=) |
single nucleotide variant |
not provided [RCV003816790] |
Chr3:45476575 [GRCh38] Chr3:45518067 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2045-12T>C |
single nucleotide variant |
not provided [RCV003850933] |
Chr3:45517891 [GRCh38] Chr3:45559383 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1554C>T (p.Asp518=) |
single nucleotide variant |
not provided [RCV003835230] |
Chr3:45496305 [GRCh38] Chr3:45537797 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1713A>G (p.Ala571=) |
single nucleotide variant |
not provided [RCV003672126] |
Chr3:45500532 [GRCh38] Chr3:45542024 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.750+11G>A |
single nucleotide variant |
not provided [RCV003817272] |
Chr3:45458897 [GRCh38] Chr3:45500389 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1501T>G (p.Trp501Gly) |
single nucleotide variant |
not provided [RCV003699341] |
Chr3:45491778 [GRCh38] Chr3:45533270 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.317C>A (p.Thr106Asn) |
single nucleotide variant |
not provided [RCV003667765] |
Chr3:45400327 [GRCh38] Chr3:45441819 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1845G>A (p.Glu615=) |
single nucleotide variant |
not provided [RCV003672783] |
Chr3:45513219 [GRCh38] Chr3:45554711 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.59A>G (p.Asn20Ser) |
single nucleotide variant |
not provided [RCV003724014] |
Chr3:45394512 [GRCh38] Chr3:45436004 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2291C>T (p.Ser764Leu) |
single nucleotide variant |
not provided [RCV003851238] |
Chr3:45520295 [GRCh38] Chr3:45561787 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1224G>A (p.Leu408=) |
single nucleotide variant |
not provided [RCV003851256] |
Chr3:45488797 [GRCh38] Chr3:45530289 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.428A>G (p.Asn143Ser) |
single nucleotide variant |
not provided [RCV003667425] |
Chr3:45417546 [GRCh38] Chr3:45459038 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1181dup (p.Tyr394Ter) |
duplication |
not provided [RCV003701887] |
Chr3:45488753..45488754 [GRCh38] Chr3:45530245..45530246 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.1644C>T (p.Ala548=) |
single nucleotide variant |
not provided [RCV003724436] |
Chr3:45500463 [GRCh38] Chr3:45541955 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1083G>A (p.Leu361=) |
single nucleotide variant |
not provided [RCV003552916] |
Chr3:45485756 [GRCh38] Chr3:45527248 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.102C>T (p.Pro34=) |
single nucleotide variant |
not provided [RCV003823877] |
Chr3:45394555 [GRCh38] Chr3:45436047 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.115del (p.Ser39fs) |
deletion |
not provided [RCV003552208] |
Chr3:45394567 [GRCh38] Chr3:45436059 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2683G>T (p.Ala895Ser) |
single nucleotide variant |
not provided [RCV003682095] |
Chr3:45547501 [GRCh38] Chr3:45588993 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1018+18C>A |
single nucleotide variant |
not provided [RCV003679799] |
Chr3:45476645 [GRCh38] Chr3:45518137 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1622+18A>G |
single nucleotide variant |
not provided [RCV003821481] |
Chr3:45496391 [GRCh38] Chr3:45537883 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.456-16T>C |
single nucleotide variant |
not provided [RCV003843965] |
Chr3:45419653 [GRCh38] Chr3:45461145 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1019-17T>C |
single nucleotide variant |
not provided [RCV003841203] |
Chr3:45485675 [GRCh38] Chr3:45527167 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1240-9C>G |
single nucleotide variant |
not provided [RCV003734218] |
Chr3:45491508 [GRCh38] Chr3:45533000 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1653G>A (p.Trp551Ter) |
single nucleotide variant |
not provided [RCV003563512] |
Chr3:45500472 [GRCh38] Chr3:45541964 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.516+17dup |
duplication |
not provided [RCV003848350] |
Chr3:45419741..45419742 [GRCh38] Chr3:45461233..45461234 [GRCh37] Chr3:3p21.31 |
benign |
NM_015340.4(LARS2):c.2601C>T (p.His867=) |
single nucleotide variant |
not provided [RCV003674613] |
Chr3:45547419 [GRCh38] Chr3:45588911 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2328G>A (p.Glu776=) |
single nucleotide variant |
not provided [RCV003842013] |
Chr3:45524032 [GRCh38] Chr3:45565524 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2025T>C (p.Asp675=) |
single nucleotide variant |
not provided [RCV003566711] |
Chr3:45516257 [GRCh38] Chr3:45557749 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.915C>T (p.Ala305=) |
single nucleotide variant |
not provided [RCV003557283] |
Chr3:45476524 [GRCh38] Chr3:45518016 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1524-8T>C |
single nucleotide variant |
not provided [RCV003853808] |
Chr3:45496267 [GRCh38] Chr3:45537759 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.516+8A>C |
single nucleotide variant |
not provided [RCV003737924] |
Chr3:45419737 [GRCh38] Chr3:45461229 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2532+20C>T |
single nucleotide variant |
not provided [RCV003868010] |
Chr3:45541976 [GRCh38] Chr3:45583468 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.234+10C>T |
single nucleotide variant |
not provided [RCV003848214] |
Chr3:45394697 [GRCh38] Chr3:45436189 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.738C>T (p.Thr246=) |
single nucleotide variant |
not provided [RCV003722784] |
Chr3:45458874 [GRCh38] Chr3:45500366 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.811C>T (p.His271Tyr) |
single nucleotide variant |
not provided [RCV003866430] |
Chr3:45474303 [GRCh38] Chr3:45515795 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2496C>T (p.Phe832=) |
single nucleotide variant |
not provided [RCV003820093] |
Chr3:45541920 [GRCh38] Chr3:45583412 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2268G>A (p.Leu756=) |
single nucleotide variant |
not provided [RCV003860443] |
Chr3:45520272 [GRCh38] Chr3:45561764 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1977C>T (p.Ile659=) |
single nucleotide variant |
not provided [RCV003556974] |
Chr3:45516209 [GRCh38] Chr3:45557701 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1862-13T>C |
single nucleotide variant |
not provided [RCV003683633] |
Chr3:45516081 [GRCh38] Chr3:45557573 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1440C>A (p.Thr480=) |
single nucleotide variant |
not provided [RCV003708484] |
Chr3:45491717 [GRCh38] Chr3:45533209 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.215C>T (p.Ser72Phe) |
single nucleotide variant |
not provided [RCV003729445] |
Chr3:45394668 [GRCh38] Chr3:45436160 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1018+14T>C |
single nucleotide variant |
not provided [RCV003709156] |
Chr3:45476641 [GRCh38] Chr3:45518133 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.507C>T (p.Ser169=) |
single nucleotide variant |
not provided [RCV003730826] |
Chr3:45419720 [GRCh38] Chr3:45461212 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.960C>T (p.Leu320=) |
single nucleotide variant |
not provided [RCV003731837] |
Chr3:45476569 [GRCh38] Chr3:45518061 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.235-9C>T |
single nucleotide variant |
not provided [RCV003854069] |
Chr3:45400236 [GRCh38] Chr3:45441728 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.441A>G (p.Gln147=) |
single nucleotide variant |
not provided [RCV003822685] |
Chr3:45417559 [GRCh38] Chr3:45459051 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1523+10_1523+20del |
deletion |
LARS2-related disorder [RCV003971709] |
Chr3:45491808..45491818 [GRCh38] Chr3:45533300..45533310 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1123+7A>T |
single nucleotide variant |
LARS2-related disorder [RCV003899041]|not provided [RCV005064713] |
Chr3:45485803 [GRCh38] Chr3:45527295 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1523+9_1523+10insAGTT |
insertion |
LARS2-related disorder [RCV003961642] |
Chr3:45491809..45491810 [GRCh38] Chr3:45533301..45533302 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1550C>T (p.Thr517Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004410228] |
Chr3:45496301 [GRCh38] Chr3:45537793 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1697T>C (p.Met566Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004410229] |
Chr3:45500516 [GRCh38] Chr3:45542008 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1903G>A (p.Val635Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004410230] |
Chr3:45516135 [GRCh38] Chr3:45557627 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2101C>T (p.Arg701Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004410231] |
Chr3:45517959 [GRCh38] Chr3:45559451 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2339C>T (p.Ala780Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004410232] |
Chr3:45524043 [GRCh38] Chr3:45565535 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.965A>G (p.His322Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004410235] |
Chr3:45476574 [GRCh38] Chr3:45518066 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NC_000003.11:g.(?_45537747)_(45537885_?)del |
deletion |
not provided [RCV004582300] |
Chr3:45537747..45537885 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2179A>G (p.Lys727Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004640086] |
Chr3:45518037 [GRCh38] Chr3:45559529 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2619C>T (p.Ser873=) |
single nucleotide variant |
not provided [RCV004575051] |
Chr3:45547437 [GRCh38] Chr3:45588929 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1636G>A (p.Ala546Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004640085] |
Chr3:45500455 [GRCh38] Chr3:45541947 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1705T>C (p.Phe569Leu) |
single nucleotide variant |
not provided [RCV004721953] |
Chr3:45500524 [GRCh38] Chr3:45542016 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1351C>T (p.Arg451Trp) |
single nucleotide variant |
not provided [RCV004769246] |
Chr3:45491628 [GRCh38] Chr3:45533120 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.767T>C (p.Leu256Ser) |
single nucleotide variant |
not provided [RCV004768127] |
Chr3:45474259 [GRCh38] Chr3:45515751 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1529A>G (p.Lys510Arg) |
single nucleotide variant |
not provided [RCV004761143] |
|
uncertain significance |
NM_015340.4(LARS2):c.235-2A>G |
single nucleotide variant |
Perrault syndrome 4 [RCV005053109] |
Chr3:45400243 [GRCh38] Chr3:45441735 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1239+1G>A |
single nucleotide variant |
Perrault syndrome 4 [RCV005053103] |
Chr3:45488813 [GRCh38] Chr3:45530305 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.1623-1G>T |
single nucleotide variant |
Perrault syndrome 4 [RCV005053107] |
Chr3:45500441 [GRCh38] Chr3:45541933 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2439C>G (p.His813Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004986505] |
Chr3:45541863 [GRCh38] Chr3:45583355 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1363T>G (p.Trp455Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004986507] |
Chr3:45491640 [GRCh38] Chr3:45533132 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1193T>C (p.Ile398Thr) |
single nucleotide variant |
Perrault syndrome 4 [RCV005053102] |
Chr3:45488766 [GRCh38] Chr3:45530258 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.1498G>T (p.Glu500Ter) |
single nucleotide variant |
Perrault syndrome 4 [RCV005053106] |
Chr3:45491775 [GRCh38] Chr3:45533267 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2218del (p.Thr740fs) |
deletion |
Perrault syndrome 4 [RCV005053108] |
Chr3:45520222 [GRCh38] Chr3:45561714 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.2585_2589dup (p.Asp864fs) |
duplication |
Perrault syndrome 4 [RCV005053110] |
Chr3:45547401..45547402 [GRCh38] Chr3:45588893..45588894 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.1334_1335del (p.Lys445fs) |
deletion |
Perrault syndrome 4 [RCV005053104] |
Chr3:45491610..45491611 [GRCh38] Chr3:45533102..45533103 [GRCh37] Chr3:3p21.31 |
likely pathogenic |
NM_015340.4(LARS2):c.337C>T (p.Arg113Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004986504] |
Chr3:45400347 [GRCh38] Chr3:45441839 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2150T>C (p.Leu717Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004986503] |
Chr3:45518008 [GRCh38] Chr3:45559500 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.470T>C (p.Met157Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004986506] |
Chr3:45419683 [GRCh38] Chr3:45461175 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1601C>G (p.Thr534Ser) |
single nucleotide variant |
not provided [RCV005135538] |
Chr3:45496352 [GRCh38] Chr3:45537844 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1206A>G (p.Pro402=) |
single nucleotide variant |
not provided [RCV005128127] |
Chr3:45488779 [GRCh38] Chr3:45530271 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.132G>A (p.Thr44=) |
single nucleotide variant |
not provided [RCV005060573] |
Chr3:45394585 [GRCh38] Chr3:45436077 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2628T>C (p.Gly876=) |
single nucleotide variant |
not provided [RCV005135991] |
Chr3:45547446 [GRCh38] Chr3:45588938 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2505G>A (p.Gln835=) |
single nucleotide variant |
not provided [RCV005142942] |
Chr3:45541929 [GRCh38] Chr3:45583421 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1240-5G>A |
single nucleotide variant |
not provided [RCV005067443] |
Chr3:45491512 [GRCh38] Chr3:45533004 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.846C>T (p.Asp282=) |
single nucleotide variant |
not provided [RCV005114226] |
Chr3:45474338 [GRCh38] Chr3:45515830 [GRCh37] Chr3:3p21.31 |
likely benign |
NC_000003.11:g.(45542072_45554626)_(45590900_?)dup |
duplication |
not specified [RCV005087731] |
Chr3:45554626..45590900 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1247G>A (p.Gly416Asp) |
single nucleotide variant |
not provided [RCV005072323] |
Chr3:45491524 [GRCh38] Chr3:45533016 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.158T>G (p.Leu53Trp) |
single nucleotide variant |
not provided [RCV005155889] |
Chr3:45394611 [GRCh38] Chr3:45436103 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1872T>C (p.Pro624=) |
single nucleotide variant |
not provided [RCV005150853] |
Chr3:45516104 [GRCh38] Chr3:45557596 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2073del (p.Trp691fs) |
deletion |
not provided [RCV005166582] |
Chr3:45517930 [GRCh38] Chr3:45559422 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.1315G>A (p.Val439Met) |
single nucleotide variant |
not provided [RCV005080072] |
Chr3:45491592 [GRCh38] Chr3:45533084 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1266T>C (p.Ala422=) |
single nucleotide variant |
not provided [RCV005078967] |
Chr3:45491543 [GRCh38] Chr3:45533035 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1902G>A (p.Glu634=) |
single nucleotide variant |
not provided [RCV005078799] |
Chr3:45516134 [GRCh38] Chr3:45557626 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1391_1392delinsAA (p.Cys464Ter) |
indel |
not provided [RCV005168276] |
Chr3:45491668..45491669 [GRCh38] Chr3:45533160..45533161 [GRCh37] Chr3:3p21.31 |
pathogenic |
NM_015340.4(LARS2):c.42T>C (p.Leu14=) |
single nucleotide variant |
not provided [RCV005069306] |
Chr3:45394495 [GRCh38] Chr3:45435987 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1074C>T (p.Val358=) |
single nucleotide variant |
not provided [RCV005193300] |
Chr3:45485747 [GRCh38] Chr3:45527239 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.235-9C>G |
single nucleotide variant |
not provided [RCV005186205] |
Chr3:45400236 [GRCh38] Chr3:45441728 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1626T>G (p.Pro542=) |
single nucleotide variant |
not provided [RCV005148838] |
Chr3:45500445 [GRCh38] Chr3:45541937 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.456-15C>G |
single nucleotide variant |
not provided [RCV005171054] |
Chr3:45419654 [GRCh38] Chr3:45461146 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.2076A>G (p.Gln692=) |
single nucleotide variant |
not provided [RCV005194062] |
Chr3:45517934 [GRCh38] Chr3:45559426 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1939G>A (p.Gly647Arg) |
single nucleotide variant |
not provided [RCV005075354] |
Chr3:45516171 [GRCh38] Chr3:45557663 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2533-1G>A |
single nucleotide variant |
not provided [RCV005171164] |
Chr3:45547350 [GRCh38] Chr3:45588842 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.1124-14T>C |
single nucleotide variant |
not provided [RCV005157082] |
Chr3:45488683 [GRCh38] Chr3:45530175 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.1283A>T (p.Gln428Leu) |
single nucleotide variant |
not provided [RCV005165751] |
Chr3:45491560 [GRCh38] Chr3:45533052 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.751-16_751-14del |
deletion |
not provided [RCV005071131] |
Chr3:45474225..45474227 [GRCh38] Chr3:45515717..45515719 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.332T>C (p.Ile111Thr) |
single nucleotide variant |
not provided [RCV005173439] |
Chr3:45400342 [GRCh38] Chr3:45441834 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2533-6_2533-4del |
deletion |
not provided [RCV005166273] |
Chr3:45547343..45547345 [GRCh38] Chr3:45588835..45588837 [GRCh37] Chr3:3p21.31 |
likely benign |
NM_015340.4(LARS2):c.587G>C (p.Gly196Ala) |
single nucleotide variant |
not provided [RCV005144700] |
Chr3:45446961 [GRCh38] Chr3:45488453 [GRCh37] Chr3:3p21.31 |
uncertain significance |
NM_015340.4(LARS2):c.2215-7C>T |
single nucleotide variant |
not provided [RCV005189252] |
Chr3:45520212 [GRCh38] Chr3:45561704 [GRCh37] Chr3:3p21.31 |
likely benign |