| NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000003257]|LRPPRC-related disorder [RCV003944794]|not provided [RCV000796281] |
Chr2:43974244 [GRCh38]
Chr2:44201383 [GRCh37]
Chr2:2p21 |
pathogenic |
| LRPPRC, 8-BP DEL, EXON 35 |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000003258] |
Chr2:2p21-p16 |
pathogenic |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] |
Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21 |
pathogenic |
| GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 |
copy number gain |
See cases [RCV000052943] |
Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1 |
pathogenic |
| NM_133259.3(LRPPRC):c.1855C>T (p.Pro619Ser) |
single nucleotide variant |
Malignant melanoma [RCV000060576] |
Chr2:43948187 [GRCh38]
Chr2:44175326 [GRCh37]
Chr2:44028830 [NCBI36]
Chr2:2p21 |
not provided |
| NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000314812]|not provided [RCV000676637]|not specified [RCV000117555] |
Chr2:43974237 [GRCh38]
Chr2:44201376 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000311110]|not provided [RCV000676638]|not specified [RCV000117556] |
Chr2:43982338 [GRCh38]
Chr2:44209477 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000336341]|not provided [RCV000676632]|not specified [RCV000117557] |
Chr2:43934821 [GRCh38]
Chr2:44161960 [GRCh37]
Chr2:2p21 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_133259.4(LRPPRC):c.347-19A>G |
single nucleotide variant |
not provided [RCV001512985]|not specified [RCV000126650] |
Chr2:43979967 [GRCh38]
Chr2:44207106 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001001626]|not provided [RCV000223987]|not specified [RCV000126651] |
Chr2:43963644 [GRCh38]
Chr2:44190783 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.1488+16G>A |
single nucleotide variant |
not provided [RCV002055661]|not specified [RCV000126652] |
Chr2:43963572 [GRCh38]
Chr2:44190711 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1736-14G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002498618]|not provided [RCV002055662]|not specified [RCV000126653] |
Chr2:43948532 [GRCh38]
Chr2:44175671 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000270035]|not provided [RCV000946606]|not specified [RCV000126654] |
Chr2:43948154 [GRCh38]
Chr2:44175293 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001001515]|not provided [RCV000958874]|not specified [RCV000126655] |
Chr2:43943866 [GRCh38]
Chr2:44171005 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139787]|not provided [RCV000676633]|not specified [RCV000126656] |
Chr2:43943710 [GRCh38]
Chr2:44170849 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.-11A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000388653]|not provided [RCV004708034]|not specified [RCV000126657] |
Chr2:43995958 [GRCh38]
Chr2:44223097 [GRCh37]
Chr2:2p21 |
benign|uncertain significance |
| NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000288380]|not provided [RCV000676640]|not specified [RCV000126658] |
Chr2:43995907 [GRCh38]
Chr2:44223046 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000382726]|not provided [RCV000757441]|not specified [RCV000126659] |
Chr2:43995890 [GRCh38]
Chr2:44223029 [GRCh37]
Chr2:2p21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000328289]|LRPPRC-related disorder [RCV003925251]|not provided [RCV000676639]|not specified [RCV000126661] |
Chr2:43995884 [GRCh38]
Chr2:44223023 [GRCh37]
Chr2:2p21 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.149+19T>C |
single nucleotide variant |
not provided [RCV001513826]|not specified [RCV000126662] |
Chr2:43995780 [GRCh38]
Chr2:44222919 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.149+20C>G |
single nucleotide variant |
not provided [RCV002055663]|not specified [RCV000126663] |
Chr2:43995779 [GRCh38]
Chr2:44222918 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.3570-3C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000999761]|not provided [RCV000676631]|not specified [RCV000126664] |
Chr2:43899608 [GRCh38]
Chr2:44126747 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3825+15C>T |
single nucleotide variant |
not provided [RCV002055664]|not specified [RCV000126665] |
Chr2:43899204 [GRCh38]
Chr2:44126343 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.1577C>A (p.Ser526Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000668867] |
Chr2:43960546 [GRCh38]
Chr2:44187685 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1792C>T (p.Gln598Ter) |
single nucleotide variant |
not provided [RCV000171290] |
Chr2:43948462 [GRCh38]
Chr2:44175601 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| GRCh38/hg38 2p21(chr2:43762375-44960289)x3 |
copy number gain |
See cases [RCV000135631] |
Chr2:43762375..44960289 [GRCh38]
Chr2:43989514..45187428 [GRCh37]
Chr2:43843018..45040932 [NCBI36]
Chr2:2p21 |
pathogenic|uncertain significance |
| NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000202390] |
Chr2:43934786..43934788 [GRCh38]
Chr2:44161925..44161927 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del) |
microsatellite |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000202395]|not provided [RCV004719749] |
Chr2:43934198..43934200 [GRCh38]
Chr2:44161337..44161339 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.1582+7A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000202398]|not provided [RCV003556252] |
Chr2:43960534 [GRCh38]
Chr2:44187673 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic|uncertain significance |
| NM_133259.4(LRPPRC):c.3900+1G>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000202399]|not provided [RCV001853257] |
Chr2:43896633 [GRCh38]
Chr2:44123772 [GRCh37]
Chr2:2p21 |
pathogenic |
| GRCh38/hg38 2p21(chr2:43676810-45016061)x3 |
copy number gain |
See cases [RCV000137089] |
Chr2:43676810..45016061 [GRCh38]
Chr2:43903949..45243200 [GRCh37]
Chr2:43757453..45096704 [NCBI36]
Chr2:2p21 |
uncertain significance |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21 |
pathogenic |
| NM_133259.4(LRPPRC):c.*1335T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000263384]|not provided [RCV004708631] |
Chr2:43887265 [GRCh38]
Chr2:44114404 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.1677+11C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000264344]|not provided [RCV001513062] |
Chr2:43950562 [GRCh38]
Chr2:44177701 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000202391]|not provided [RCV001213935] |
Chr2:43918025..43918026 [GRCh38]
Chr2:44145164..44145165 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3286del (p.His1096fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000194544]|not provided [RCV001853125] |
Chr2:43905770 [GRCh38]
Chr2:44132909 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002282031]|not provided [RCV000200227] |
Chr2:43894567 [GRCh38]
Chr2:44121706 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2861G>A (p.Arg954Lys) |
single nucleotide variant |
not provided [RCV000200340] |
Chr2:43925102 [GRCh38]
Chr2:44152241 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.695A>G (p.Glu232Gly) |
single nucleotide variant |
not provided [RCV000200430] |
Chr2:43976185 [GRCh38]
Chr2:44203324 [GRCh37]
Chr2:2p21 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_133259.4(LRPPRC):c.4056T>A (p.Asp1352Glu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001271669]|not provided [RCV000767147]|not specified [RCV000196658] |
Chr2:43889806 [GRCh38]
Chr2:44116945 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000985153]|not provided [RCV000200464] |
Chr2:43973879 [GRCh38]
Chr2:44201018 [GRCh37]
Chr2:2p21 |
likely pathogenic|uncertain significance |
| NM_133259.4(LRPPRC):c.151G>C (p.Gly51Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004020406]|not provided [RCV001853182] |
Chr2:43982433 [GRCh38]
Chr2:44209572 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1211C>A (p.Ser404Tyr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001833147]|not provided [RCV000196886] |
Chr2:43973845 [GRCh38]
Chr2:44200984 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.242A>G (p.Asn81Ser) |
single nucleotide variant |
not provided [RCV002517225]|not specified [RCV000196964] |
Chr2:43982342 [GRCh38]
Chr2:44209481 [GRCh37]
Chr2:2p21 |
likely pathogenic|likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.814G>A (p.Ala272Thr) |
single nucleotide variant |
not provided [RCV001857730]|not specified [RCV000200755] |
Chr2:43975141 [GRCh38]
Chr2:44202280 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137661]|not provided [RCV000884171]|not specified [RCV000200828] |
Chr2:43960594 [GRCh38]
Chr2:44187733 [GRCh37]
Chr2:2p21 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1184A>G (p.Lys395Arg) |
single nucleotide variant |
not specified [RCV000197186] |
Chr2:43973872 [GRCh38]
Chr2:44201011 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2072C>T (p.Ser691Leu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274198]|Inborn genetic diseases [RCV003343691]|not provided [RCV000197246] |
Chr2:43947264 [GRCh38]
Chr2:44174403 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.864+2T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003468888]|not provided [RCV000197365] |
Chr2:43975089 [GRCh38]
Chr2:44202228 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.110CCT[1] (p.Ser38del) |
microsatellite |
not specified [RCV000197447] |
Chr2:43995833..43995835 [GRCh38]
Chr2:44222972..44222974 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.109G>A (p.Ala37Thr) |
single nucleotide variant |
not specified [RCV000197618] |
Chr2:43995839 [GRCh38]
Chr2:44222978 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1920+1G>T |
single nucleotide variant |
not provided [RCV000197771] |
Chr2:43948121 [GRCh38]
Chr2:44175260 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2120C>T (p.Ser707Phe) |
single nucleotide variant |
not provided [RCV000197806] |
Chr2:43946203 [GRCh38]
Chr2:44173342 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000764413]|Inborn genetic diseases [RCV001266183]|not provided [RCV000488138] |
Chr2:43949659 [GRCh38]
Chr2:44176798 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.2423T>G (p.Leu808Trp) |
single nucleotide variant |
not provided [RCV000198012] |
Chr2:43943768 [GRCh38]
Chr2:44170907 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.3(LRPPRC):c.2204A>G (p.Glu735Gly) |
single nucleotide variant |
not specified [RCV000198102] |
Chr2:43946119 [GRCh38]
Chr2:44173258 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000675141]|not provided [RCV000198211]|not specified [RCV002228880] |
Chr2:43918329 [GRCh38]
Chr2:44145468 [GRCh37]
Chr2:2p21 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.587A>C (p.Asn196Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000664807]|not provided [RCV001354819] |
Chr2:43977159 [GRCh38]
Chr2:44204298 [GRCh37]
Chr2:2p21 |
likely pathogenic|uncertain significance |
| NM_133259.4(LRPPRC):c.3678A>G (p.Ile1226Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004988344] |
Chr2:43899497 [GRCh38]
Chr2:44126636 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.109G>T (p.Ala37Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001828023]|Inborn genetic diseases [RCV004020408]|not provided [RCV000198448] |
Chr2:43995839 [GRCh38]
Chr2:44222978 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140441]|not provided [RCV000767148]|not specified [RCV000198536] |
Chr2:43888653 [GRCh38]
Chr2:44115792 [GRCh37]
Chr2:2p21 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.262A>C (p.Met88Leu) |
single nucleotide variant |
not specified [RCV000198860] |
Chr2:43982322 [GRCh38]
Chr2:44209461 [GRCh37]
Chr2:2p21 |
pathogenic|likely benign |
| NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser) |
single nucleotide variant |
not provided [RCV000195452]|not specified [RCV003323447] |
Chr2:43943793 [GRCh38]
Chr2:44170932 [GRCh37]
Chr2:2p21 |
likely pathogenic|uncertain significance |
| NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140553]|Inborn genetic diseases [RCV004020407]|not provided [RCV000198972] |
Chr2:43947316 [GRCh38]
Chr2:44174455 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.1253A>G (p.Asn418Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003485559]|Inborn genetic diseases [RCV002517226]|not provided [RCV002515406]|not specified [RCV000199058] |
Chr2:43973803 [GRCh38]
Chr2:44200942 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1915A>G (p.Ile639Val) |
single nucleotide variant |
not specified [RCV000199092] |
Chr2:43948127 [GRCh38]
Chr2:44175266 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000362182]|not provided [RCV000676634] |
Chr2:43947768 [GRCh38]
Chr2:44174907 [GRCh37]
Chr2:2p21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.908G>A (p.Arg303His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274204]|not provided [RCV000199259] |
Chr2:43974715 [GRCh38]
Chr2:44201854 [GRCh37]
Chr2:2p21 |
likely pathogenic|uncertain significance |
| NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137663]|LRPPRC-related disorder [RCV003977543]|not provided [RCV000676635] |
Chr2:43963650 [GRCh38]
Chr2:44190789 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.2039A>T (p.Asp680Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001833148]|not provided [RCV000195925] |
Chr2:43947297 [GRCh38]
Chr2:44174436 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274202]|Inborn genetic diseases [RCV002517227]|not provided [RCV000199460] |
Chr2:43973681 [GRCh38]
Chr2:44200820 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000764414]|LRPPRC-related disorder [RCV003927843]|not provided [RCV000676636] |
Chr2:43973675 [GRCh38]
Chr2:44200814 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.2210+4A>C |
single nucleotide variant |
not provided [RCV000199688]|not specified [RCV003155117] |
Chr2:43946109 [GRCh38]
Chr2:44173248 [GRCh37]
Chr2:2p21 |
likely pathogenic|uncertain significance |
| NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137778]|Inborn genetic diseases [RCV002517228]|LRPPRC-related disorder [RCV003937736]|Leigh syndrome [RCV000986628]|not provided [RCV000901776] |
Chr2:43995941 [GRCh38]
Chr2:44223080 [GRCh37]
Chr2:2p21 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.3809C>T (p.Ala1270Val) |
single nucleotide variant |
not provided [RCV000199926] |
Chr2:43899235 [GRCh38]
Chr2:44126374 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000764412]|not provided [RCV000196348] |
Chr2:43918330 [GRCh38]
Chr2:44145469 [GRCh37]
Chr2:2p21 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.1649_1649+1delinsTTT |
indel |
not provided [RCV000196368] |
Chr2:43957384..43957385 [GRCh38]
Chr2:44184523..44184524 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.94G>C (p.Gly32Arg) |
single nucleotide variant |
not specified [RCV000196418] |
Chr2:43995854 [GRCh38]
Chr2:44222993 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000382937]|not provided [RCV000912653] |
Chr2:43899534 [GRCh38]
Chr2:44126673 [GRCh37]
Chr2:2p21 |
benign|likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000322781]|LRPPRC-related disorder [RCV003937735]|not provided [RCV000757440]|not specified [RCV000199980] |
Chr2:43995869 [GRCh38]
Chr2:44223008 [GRCh37]
Chr2:2p21 |
benign|uncertain significance |
| NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000290393]|not provided [RCV000513888]|not specified [RCV000200020] |
Chr2:43899580 [GRCh38]
Chr2:44126719 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.475G>A (p.Val159Met) |
single nucleotide variant |
not provided [RCV000513682] |
Chr2:43977271 [GRCh38]
Chr2:44204410 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1723C>T (p.Arg575Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000669968]|not provided [RCV002532093] |
Chr2:43949614 [GRCh38]
Chr2:44176753 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2450T>A (p.Leu817Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000669196] |
Chr2:43943741 [GRCh38]
Chr2:44170880 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2514A>C (p.Leu838=) |
single nucleotide variant |
not provided [RCV002085184] |
Chr2:43934869 [GRCh38]
Chr2:44162008 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.-4A>G |
single nucleotide variant |
not provided [RCV000757442] |
Chr2:43995951 [GRCh38]
Chr2:44223090 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000669822]|not provided [RCV001205402] |
Chr2:43948174..43948177 [GRCh38]
Chr2:44175313..44175316 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3364+6T>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000284952]|not provided [RCV002519975] |
Chr2:43905686 [GRCh38]
Chr2:44132825 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1583-14A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000286724]|not provided [RCV002057701]|not specified [RCV000601360] |
Chr2:43957465 [GRCh38]
Chr2:44184604 [GRCh37]
Chr2:2p21 |
benign|likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1369+5G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667137]|Inborn genetic diseases [RCV003352843]|not provided [RCV002523133] |
Chr2:43973602 [GRCh38]
Chr2:44200741 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2099C>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000269765] |
Chr2:43886501 [GRCh38]
Chr2:44113640 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1033T>C (p.Leu345=) |
single nucleotide variant |
not provided [RCV001493748] |
Chr2:43974272 [GRCh38]
Chr2:44201411 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.*1911G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000267268] |
Chr2:43886689 [GRCh38]
Chr2:44113828 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2041C>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000272856] |
Chr2:43886559 [GRCh38]
Chr2:44113698 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000273157]|not provided [RCV002266955] |
Chr2:43995878 [GRCh38]
Chr2:44223017 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3900+14C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000277937]|not provided [RCV001513256] |
Chr2:43896620 [GRCh38]
Chr2:44123759 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.*2245A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000314407] |
Chr2:43886355 [GRCh38]
Chr2:44113494 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000314446]|not provided [RCV000939927]|not specified [RCV000612975] |
Chr2:43946205 [GRCh38]
Chr2:44173344 [GRCh37]
Chr2:2p21 |
benign|likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*825A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000352077]|not provided [RCV004708632] |
Chr2:43887775 [GRCh38]
Chr2:44114914 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.*1343G>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000374358] |
Chr2:43887257 [GRCh38]
Chr2:44114396 [GRCh37]
Chr2:2p21 |
benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*1665C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000375009]|not provided [RCV004708630] |
Chr2:43886935 [GRCh38]
Chr2:44114074 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.*399G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000397846]|not provided [RCV002510877] |
Chr2:43888201 [GRCh38]
Chr2:44115340 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*343C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000300194] |
Chr2:43888257 [GRCh38]
Chr2:44115396 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*409C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000352995] |
Chr2:43888191 [GRCh38]
Chr2:44115330 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1371C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000316121] |
Chr2:43887229 [GRCh38]
Chr2:44114368 [GRCh37]
Chr2:2p21 |
benign|uncertain significance |
| NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000673209]|not specified [RCV002230704] |
Chr2:43901459 [GRCh38]
Chr2:44128598 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000764415]|LRPPRC-related disorder [RCV003950163]|not provided [RCV000592673] |
Chr2:43995874 [GRCh38]
Chr2:44223013 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*1961T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000377959] |
Chr2:43886639 [GRCh38]
Chr2:44113778 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*556A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000301796]|not provided [RCV004708633] |
Chr2:43888044 [GRCh38]
Chr2:43888044..43888045 [GRCh38]
Chr2:44115183 [GRCh37]
Chr2:44115183..44115184 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000356535]|Inborn genetic diseases [RCV002523135]|not provided [RCV002519979] |
Chr2:43982405 [GRCh38]
Chr2:44209544 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000378695]|not provided [RCV002519976] |
Chr2:43950576 [GRCh38]
Chr2:44177715 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000357354]|not provided [RCV004725177] |
Chr2:43888608 [GRCh38]
Chr2:44115747 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*577G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000403685] |
Chr2:43888023 [GRCh38]
Chr2:44115162 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*667C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000381024] |
Chr2:43887933 [GRCh38]
Chr2:44115072 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000290261] |
Chr2:43973676 [GRCh38]
Chr2:44200815 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1981A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000320972] |
Chr2:43886619 [GRCh38]
Chr2:44113758 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*534G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000340290] |
Chr2:43888066 [GRCh38]
Chr2:44115205 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1677+7C>T |
single nucleotide variant |
Leigh syndrome [RCV000321679]|not provided [RCV001443264] |
Chr2:43950566 [GRCh38]
Chr2:44177705 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*1665C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000292352] |
Chr2:43886935 [GRCh38]
Chr2:44114074 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1584G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000343702] |
Chr2:43887016 [GRCh38]
Chr2:44114155 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2041C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000364997] |
Chr2:43886559 [GRCh38]
Chr2:44113698 [GRCh37]
Chr2:2p21 |
benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*1121G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000387137]|not provided [RCV004694562] |
Chr2:43887479 [GRCh38]
Chr2:44114618 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1563C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000308946] |
Chr2:43887037 [GRCh38]
Chr2:44114176 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1262-12T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000345203]|not provided [RCV001705505] |
Chr2:43973726 [GRCh38]
Chr2:44200865 [GRCh37]
Chr2:2p21 |
benign|likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000365977] |
Chr2:43948492 [GRCh38]
Chr2:44175631 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1498G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000365911] |
Chr2:43887102 [GRCh38]
Chr2:44114241 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.-19C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000294384] |
Chr2:43995966 [GRCh38]
Chr2:44223105 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000666539] |
Chr2:43948179 [GRCh38]
Chr2:44175318 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1088G>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000294907]|not provided [RCV004709928] |
Chr2:43887512 [GRCh38]
Chr2:44114651 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000368192] |
Chr2:43945400 [GRCh38]
Chr2:44172539 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000329051]|not provided [RCV001660699] |
Chr2:43899589 [GRCh38]
Chr2:44126728 [GRCh37]
Chr2:2p21 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.3(LRPPRC):c.-45G>A |
single nucleotide variant |
Leigh syndrome [RCV000349366]|not provided [RCV001643032] |
Chr2:43995992 [GRCh38]
Chr2:44223131 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3900+15C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000370188]|not provided [RCV001512924] |
Chr2:43896619 [GRCh38]
Chr2:44123758 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.*1152C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000330263] |
Chr2:43887448 [GRCh38]
Chr2:44114587 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2176A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000371259] |
Chr2:43886424 [GRCh38]
Chr2:44113563 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.*1564G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000394805] |
Chr2:43887036 [GRCh38]
Chr2:44114175 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.3901-6T>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000669691] |
Chr2:43894635 [GRCh38]
Chr2:44121774 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.843C>T (p.Gly281=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000350853]|not provided [RCV002523134] |
Chr2:43975112 [GRCh38]
Chr2:44202251 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*1872C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000372295] |
Chr2:43886728 [GRCh38]
Chr2:44113867 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000396384]|not provided [RCV002288976] |
Chr2:43945412 [GRCh38]
Chr2:44172551 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.719C>T (p.Thr240Ile) |
single nucleotide variant |
not provided [RCV000269383] |
Chr2:43976161 [GRCh38]
Chr2:44203300 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1449_*1456dup |
duplication |
Leigh syndrome [RCV000264271]|not provided [RCV004694561] |
Chr2:43887143..43887144 [GRCh38]
Chr2:44114282..44114283 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3277G>A (p.Ala1093Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002494862]|Inborn genetic diseases [RCV002518973]|not provided [RCV000277083] |
Chr2:43905779 [GRCh38]
Chr2:44132918 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1445_*1456dup |
duplication |
Leigh syndrome [RCV000303246] |
Chr2:43887143..43887144 [GRCh38]
Chr2:44114282..44114283 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2048dup |
duplication |
Leigh syndrome [RCV000308061] |
Chr2:43886551..43886552 [GRCh38]
Chr2:44113690..44113691 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667549]|not provided [RCV000939926] |
Chr2:43995813 [GRCh38]
Chr2:44222952 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000274217] |
Chr2:43888629 [GRCh38]
Chr2:44115768 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3040-4A>G |
single nucleotide variant |
not provided [RCV000281062] |
Chr2:43918137 [GRCh38]
Chr2:44145276 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1156-13dup |
duplication |
Leigh syndrome [RCV000405246]|not provided [RCV002057702]|not specified [RCV000481416] |
Chr2:43973907..43973908 [GRCh38]
Chr2:44201046..44201047 [GRCh37]
Chr2:2p21 |
benign|likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000278916] |
Chr2:43934246 [GRCh38]
Chr2:44161385 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667732] |
Chr2:43995852 [GRCh38]
Chr2:44222991 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.*1387_*1390dup |
duplication |
Leigh syndrome [RCV000268045] |
Chr2:43887209..43887210 [GRCh38]
Chr2:44114348..44114349 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1816T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000279438] |
Chr2:43886784 [GRCh38]
Chr2:44113923 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.592_603del |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000678293]|not provided [RCV000489429] |
Chr2:43977041..43977052 [GRCh38]
Chr2:44204180..44204191 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3673G>C (p.Val1225Leu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279485] |
Chr2:43899502 [GRCh38]
Chr2:44126641 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1578A>G (p.Ser526=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279489]|not provided [RCV001469929] |
Chr2:43960545 [GRCh38]
Chr2:44187684 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667875]|not provided [RCV000523785]|not specified [RCV003323585] |
Chr2:43973803 [GRCh38]
Chr2:44200942 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000490392]|not provided [RCV001560787]|not specified [RCV000825952] |
Chr2:43889734 [GRCh38]
Chr2:44116873 [GRCh37]
Chr2:2p21 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val) |
single nucleotide variant |
Leigh syndrome [RCV001270836] |
Chr2:43947280 [GRCh38]
Chr2:44174419 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000678292]|LRPPRC-related disorder [RCV003419824]|not provided [RCV000488935] |
Chr2:43918314 [GRCh38]
Chr2:44145453 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1587C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000314499] |
Chr2:43887013 [GRCh38]
Chr2:44114152 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*590C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000346109] |
Chr2:43888010 [GRCh38]
Chr2:44115149 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*456G>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000305130] |
Chr2:43888144 [GRCh38]
Chr2:44115283 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000671831]|not provided [RCV002057700] |
Chr2:43943806 [GRCh38]
Chr2:44170945 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.*1653G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000403972] |
Chr2:43886947 [GRCh38]
Chr2:44114086 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*485C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000404534] |
Chr2:43888115 [GRCh38]
Chr2:44115254 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1653G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000349460] |
Chr2:43886947 [GRCh38]
Chr2:44114086 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2376C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000367651] |
Chr2:43886224 [GRCh38]
Chr2:44113363 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1806A>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000336871] |
Chr2:43886794 [GRCh38]
Chr2:44113933 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000352770] |
Chr2:43995940 [GRCh38]
Chr2:44223079 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000352889]|not provided [RCV000922944] |
Chr2:43995834 [GRCh38]
Chr2:44222973 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672191]|Inborn genetic diseases [RCV004984836] |
Chr2:43973633 [GRCh38]
Chr2:44200772 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000673117] |
Chr2:43995818 [GRCh38]
Chr2:44222957 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1895G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000324711] |
Chr2:43886705 [GRCh38]
Chr2:44113844 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672876]|not provided [RCV002519977] |
Chr2:43963657 [GRCh38]
Chr2:44190796 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000391337]|not provided [RCV003727696] |
Chr2:43973671 [GRCh38]
Chr2:44200810 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.441T>C (p.His147=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000393281]|not provided [RCV002519978] |
Chr2:43979854 [GRCh38]
Chr2:44206993 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.*647G>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000288927] |
Chr2:43887953 [GRCh38]
Chr2:44115092 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000326024] |
Chr2:43899307 [GRCh38]
Chr2:44126446 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2277A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000396240] |
Chr2:43886323 [GRCh38]
Chr2:44113462 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1435del |
deletion |
Leigh syndrome [RCV000360363] |
Chr2:43887165 [GRCh38]
Chr2:44114304 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3952G>T (p.Glu1318Ter) |
single nucleotide variant |
not provided [RCV000578976] |
Chr2:43894578 [GRCh38]
Chr2:44121717 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.469+1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000454266]|not provided [RCV002522742] |
Chr2:43979825 [GRCh38]
Chr2:44206964 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 |
copy number gain |
See cases [RCV000454271] |
Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1 |
pathogenic |
| NM_133259.4(LRPPRC):c.1677+11C>T |
single nucleotide variant |
not provided [RCV002522595]|not specified [RCV000423646] |
Chr2:43950562 [GRCh38]
Chr2:44177701 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1842+10C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142409]|not provided [RCV000886107]|not specified [RCV000430924] |
Chr2:43948402 [GRCh38]
Chr2:44175541 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.3984T>C (p.Tyr1328=) |
single nucleotide variant |
not specified [RCV000444928] |
Chr2:43894546 [GRCh38]
Chr2:44121685 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3275+7G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274196]|not provided [RCV000727464]|not specified [RCV000424044] |
Chr2:43912425 [GRCh38]
Chr2:44139564 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.3148+14G>A |
single nucleotide variant |
not specified [RCV000421089] |
Chr2:43918011 [GRCh38]
Chr2:44145150 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.365A>G (p.His122Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002524848]|not specified [RCV000424074] |
Chr2:43979930 [GRCh38]
Chr2:44207069 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1649+11C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000665668]|not provided [RCV002526336]|not specified [RCV000424110] |
Chr2:43957374 [GRCh38]
Chr2:44184513 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+11T>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140657]|not provided [RCV002061422]|not specified [RCV000424136] |
Chr2:43975080 [GRCh38]
Chr2:44202219 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137662]|not provided [RCV000898512]|not specified [RCV000438091] |
Chr2:43960632 [GRCh38]
Chr2:44187771 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.1582+20G>A |
single nucleotide variant |
not provided [RCV003558382]|not specified [RCV000424573] |
Chr2:43960521 [GRCh38]
Chr2:44187660 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2896+16A>G |
single nucleotide variant |
not provided [RCV002061423]|not specified [RCV000438562] |
Chr2:43925051 [GRCh38]
Chr2:44152190 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1677+18T>A |
single nucleotide variant |
not provided [RCV003766380]|not specified [RCV000442399] |
Chr2:43950555 [GRCh38]
Chr2:44177694 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2504+17T>C |
single nucleotide variant |
not specified [RCV000424883] |
Chr2:43943670 [GRCh38]
Chr2:44170809 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.470-20A>G |
single nucleotide variant |
not provided [RCV002062323]|not specified [RCV000435252] |
Chr2:43977296 [GRCh38]
Chr2:44204435 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.3365-16T>C |
single nucleotide variant |
not provided [RCV003736764]|not specified [RCV000425036] |
Chr2:43901540 [GRCh38]
Chr2:44128679 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137557]|LRPPRC-related disorder [RCV003912636]|not provided [RCV000968874] |
Chr2:43918265 [GRCh38]
Chr2:44145404 [GRCh37]
Chr2:2p21 |
benign|likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.66C>T (p.Leu22=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003922810]|not provided [RCV000913130]|not specified [RCV000432345] |
Chr2:43995882 [GRCh38]
Chr2:44223021 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+8C>T |
single nucleotide variant |
not provided [RCV000926661]|not specified [RCV000422162] |
Chr2:43995791 [GRCh38]
Chr2:44222930 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.408A>G (p.Glu136=) |
single nucleotide variant |
not provided [RCV002522691]|not specified [RCV000436129] |
Chr2:43979887 [GRCh38]
Chr2:44207026 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2388A>G (p.Ala796=) |
single nucleotide variant |
not provided [RCV001399102]|not specified [RCV000422416] |
Chr2:43943803 [GRCh38]
Chr2:44170942 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1421A>G (p.Gln474Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004984877]|not specified [RCV000422686] |
Chr2:43963655 [GRCh38]
Chr2:44190794 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1369+20C>T |
single nucleotide variant |
not provided [RCV002521617]|not specified [RCV000426024] |
Chr2:43973587 [GRCh38]
Chr2:44200726 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1390G>C (p.Gly464Arg) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001835793]|not provided [RCV000432315] |
Chr2:43963686 [GRCh38]
Chr2:44190825 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.651-15G>A |
single nucleotide variant |
not provided [RCV002059592]|not specified [RCV000429894] |
Chr2:43976244 [GRCh38]
Chr2:44203383 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.3585C>T (p.Ala1195=) |
single nucleotide variant |
not provided [RCV000912088]|not specified [RCV000440665] |
Chr2:43899590 [GRCh38]
Chr2:44126729 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3837A>G (p.Ala1279=) |
single nucleotide variant |
not provided [RCV003727726]|not specified [RCV000444468] |
Chr2:43896697 [GRCh38]
Chr2:44123836 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+10C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003129856]|not provided [RCV001418953] |
Chr2:43946103 [GRCh38]
Chr2:44173242 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| GRCh37/hg19 2p21(chr2:44161858-44341408)x3 |
copy number gain |
See cases [RCV000448853] |
Chr2:44161858..44341408 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3985+14_3985+18del |
deletion |
not provided [RCV003727737]|not specified [RCV000484248] |
Chr2:43894527..43894531 [GRCh38]
Chr2:44121666..44121670 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-12del |
deletion |
not provided [RCV003736790]|not specified [RCV000484427] |
Chr2:43947382 [GRCh38]
Chr2:44174521 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.3034C>T (p.Pro1012Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001828499]|Inborn genetic diseases [RCV002526550]|not provided [RCV000965602] |
Chr2:43918261 [GRCh38]
Chr2:44145400 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139881]|not provided [RCV000515085] |
Chr2:43973837 [GRCh38]
Chr2:44200976 [GRCh37]
Chr2:2p21 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NC_000002.11:g.38121110_47669522inv |
inversion |
Hereditary nonpolyposis colorectal neoplasms [RCV002231155] |
Chr2:38121110..47669522 [GRCh37]
Chr2:2p22.2-21 |
pathogenic |
| GRCh37/hg19 2p21(chr2:43386188-45013725)x3 |
copy number gain |
See cases [RCV000511805] |
Chr2:43386188..45013725 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_133259.4(LRPPRC):c.1201C>T (p.Gln401Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000669058] |
Chr2:43973855 [GRCh38]
Chr2:44200994 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2080-1G>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672256] |
Chr2:43946244 [GRCh38]
Chr2:44173383 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2961T>G (p.Ile987Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003277054] |
Chr2:43918334 [GRCh38]
Chr2:44145473 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3078G>A (p.Ser1026=) |
single nucleotide variant |
not provided [RCV000944584]|not specified [RCV000602677] |
Chr2:43918095 [GRCh38]
Chr2:44145234 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+12T>G |
single nucleotide variant |
not provided [RCV002531517]|not specified [RCV000601691] |
Chr2:43934742 [GRCh38]
Chr2:44161881 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3566dup (p.Asn1190fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003465367]|not provided [RCV000627493] |
Chr2:43901322..43901323 [GRCh38]
Chr2:44128461..44128462 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1005T>G (p.Ile335Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003263102] |
Chr2:43974618 [GRCh38]
Chr2:44201757 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1138T>G (p.Cys380Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003285571] |
Chr2:43974167 [GRCh38]
Chr2:44201306 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1583-17G>A |
single nucleotide variant |
not specified [RCV000615682] |
Chr2:43957468 [GRCh38]
Chr2:44184607 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2271A>G (p.Val757=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003953041]|not provided [RCV000904275] |
Chr2:43945357 [GRCh38]
Chr2:44172496 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.470-13A>G |
single nucleotide variant |
not provided [RCV001718951] |
Chr2:43977289 [GRCh38]
Chr2:44204428 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.150-19del |
deletion |
not provided [RCV002065279]|not specified [RCV000602017] |
Chr2:43982453 [GRCh38]
Chr2:44209592 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2364C>T (p.Ser788=) |
single nucleotide variant |
not provided [RCV001421233] |
Chr2:43943827 [GRCh38]
Chr2:44170966 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1086C>A (p.Pro362=) |
single nucleotide variant |
not provided [RCV003708540]|not specified [RCV000610478] |
Chr2:43974219 [GRCh38]
Chr2:44201358 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1209C>T (p.His403=) |
single nucleotide variant |
not provided [RCV000944580]|not specified [RCV000616551] |
Chr2:43973847 [GRCh38]
Chr2:44200986 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-8C>T |
single nucleotide variant |
not provided [RCV001400455]|not specified [RCV000608120] |
Chr2:43888664 [GRCh38]
Chr2:44115803 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+18A>G |
single nucleotide variant |
not provided [RCV003558455]|not specified [RCV000616953] |
Chr2:43934736 [GRCh38]
Chr2:44161875 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.723G>A (p.Gly241=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003945539]|not provided [RCV001392783]|not specified [RCV000611261] |
Chr2:43976157 [GRCh38]
Chr2:44203296 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3368C>T (p.Ala1123Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003239608] |
Chr2:43901521 [GRCh38]
Chr2:44128660 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1650-18C>A |
single nucleotide variant |
not specified [RCV000609310] |
Chr2:43950618 [GRCh38]
Chr2:44177757 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3826-16_3826-14dup |
duplication |
not specified [RCV000612024] |
Chr2:43896721..43896722 [GRCh38]
Chr2:44123860..44123861 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3901-14A>G |
single nucleotide variant |
not provided [RCV001719078] |
Chr2:43894643 [GRCh38]
Chr2:44121782 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2563T>C (p.Leu855=) |
single nucleotide variant |
not provided [RCV001471258]|not specified [RCV000606313] |
Chr2:43934820 [GRCh38]
Chr2:44161959 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2079+10G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002498991]|not provided [RCV000939556]|not specified [RCV000601447] |
Chr2:43947247 [GRCh38]
Chr2:44174386 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2545_2558del (p.Tyr849fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672873] |
Chr2:43934825..43934838 [GRCh38]
Chr2:44161964..44161977 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672912] |
Chr2:43995946 [GRCh38]
Chr2:44223085 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3986-11_3986-8dup |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000664704]|LRPPRC-related disorder [RCV003965424]|not provided [RCV001464969] |
Chr2:43889883..43889884 [GRCh38]
Chr2:44117022..44117023 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.3148+2C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672540]|not provided [RCV002532126] |
Chr2:43918023 [GRCh38]
Chr2:44145162 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000671392] |
Chr2:43947759..43947761 [GRCh38]
Chr2:44174898..44174900 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1722_1723del (p.Gly576fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000671397]|not provided [RCV001068882] |
Chr2:43949614..43949615 [GRCh38]
Chr2:44176753..44176754 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2296+1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000673650] |
Chr2:43945331 [GRCh38]
Chr2:44172470 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.254G>A (p.Trp85Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000670107]|not provided [RCV003708549] |
Chr2:43982330 [GRCh38]
Chr2:44209469 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3861GTT[2] (p.Leu1289del) |
microsatellite |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000669929]|not provided [RCV002531240] |
Chr2:43896665..43896667 [GRCh38]
Chr2:44123804..44123806 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1970_1971del (p.Val657fs) |
microsatellite |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000668938] |
Chr2:43947365..43947366 [GRCh38]
Chr2:44174504..44174505 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 |
copy number gain |
not provided [RCV000682169] |
Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1 |
pathogenic |
| NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667860]|not provided [RCV003698807] |
Chr2:43957422 [GRCh38]
Chr2:44184561 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.880_882del (p.Glu294del) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000668009] |
Chr2:43974741..43974743 [GRCh38]
Chr2:44201880..44201882 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1091C>G (p.Ser364Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000671275] |
Chr2:43974214 [GRCh38]
Chr2:44201353 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000668374] |
Chr2:43889733..43889734 [GRCh38]
Chr2:44116872..44116873 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2736+1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672077] |
Chr2:43934189 [GRCh38]
Chr2:44161328 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.62_79dup (p.Pro21_Leu26dup) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000665919] |
Chr2:43995868..43995869 [GRCh38]
Chr2:44223007..44223008 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1385del (p.Leu462fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000673044] |
Chr2:43963691 [GRCh38]
Chr2:44190830 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.601C>T (p.Gln201Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000665018]|not provided [RCV001387030] |
Chr2:43977043 [GRCh38]
Chr2:44204182 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000673811] |
Chr2:43995945 [GRCh38]
Chr2:44223084 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2737-1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667374] |
Chr2:43925962 [GRCh38]
Chr2:44153101 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.600C>A (p.Tyr200Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667377] |
Chr2:43977044 [GRCh38]
Chr2:44204183 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.4077C>G (p.Tyr1359Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000670533]|not provided [RCV001855543] |
Chr2:43889785 [GRCh38]
Chr2:44116924 [GRCh37]
Chr2:2p21 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.3045G>A (p.Trp1015Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000671622] |
Chr2:43918128 [GRCh38]
Chr2:44145267 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3003_3006del (p.Glu1002fs) |
microsatellite |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000665798] |
Chr2:43918289..43918292 [GRCh38]
Chr2:44145428..44145431 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1887_1889del (p.Leu630del) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000671065]|Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian [RCV003458498] |
Chr2:43948153..43948155 [GRCh38]
Chr2:44175292..44175294 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000665606] |
Chr2:43888602..43888603 [GRCh38]
Chr2:44115741..44115742 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000671441]|not provided [RCV003767993] |
Chr2:43977157 [GRCh38]
Chr2:44204296 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2984T>G (p.Leu995Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000668076] |
Chr2:43918311 [GRCh38]
Chr2:44145450 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3578T>C (p.Ile1193Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000664804]|not provided [RCV004760684] |
Chr2:43899597 [GRCh38]
Chr2:44126736 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2505-1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000673452]|not provided [RCV002285020] |
Chr2:43934879 [GRCh38]
Chr2:44162018 [GRCh37]
Chr2:2p21 |
likely pathogenic|not provided |
| NM_133259.4(LRPPRC):c.1880G>A (p.Arg627His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000664932]|not provided [RCV002530642] |
Chr2:43948162 [GRCh38]
Chr2:44175301 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.251_254del (p.Asp84fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000668430] |
Chr2:43982330..43982333 [GRCh38]
Chr2:44209469..44209472 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1261+2T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667170] |
Chr2:43973793 [GRCh38]
Chr2:44200932 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3673_3676del (p.Lys1224_Val1225insTer) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672746] |
Chr2:43899499..43899502 [GRCh38]
Chr2:44126638..44126641 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1678-2dup |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000672750] |
Chr2:43949660..43949661 [GRCh38]
Chr2:44176799..44176800 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000665443]|not provided [RCV002530656] |
Chr2:43957445 [GRCh38]
Chr2:44184584 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.239_253del (p.Ser80_Asp84del) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000674263] |
Chr2:43982331..43982345 [GRCh38]
Chr2:44209470..44209484 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4128+2T>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000666477] |
Chr2:43889732 [GRCh38]
Chr2:44116871 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2755C>T (p.Arg919Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000673086]|not provided [RCV002531331] |
Chr2:43925943 [GRCh38]
Chr2:44153082 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000664653]|not specified [RCV003323665] |
Chr2:43925957 [GRCh38]
Chr2:44153096 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1195del (p.Glu399fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000666673]|not provided [RCV003767951] |
Chr2:43973861 [GRCh38]
Chr2:44201000 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.650+1G>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000666329]|not provided [RCV001376755] |
Chr2:43976993 [GRCh38]
Chr2:44204132 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3148+12C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000665037]|not provided [RCV002060810] |
Chr2:43918013 [GRCh38]
Chr2:44145152 [GRCh37]
Chr2:2p21 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_133259.4(LRPPRC):c.4128+1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000666643] |
Chr2:43889733 [GRCh38]
Chr2:44116872 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1842+2T>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000667500] |
Chr2:43948410 [GRCh38]
Chr2:44175549 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| GRCh37/hg19 2p21(chr2:44103017-44235543)x2 |
copy number gain |
not provided [RCV000752930] |
Chr2:44103017..44235543 [GRCh37]
Chr2:2p21 |
benign |
| GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 |
copy number gain |
not provided [RCV000752875] |
Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3 |
pathogenic |
| GRCh37/hg19 2p21(chr2:44070780-44132918)x1 |
copy number loss |
not provided [RCV000752928] |
Chr2:44070780..44132918 [GRCh37]
Chr2:2p21 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_133259.4(LRPPRC):c.204T>A (p.Ile68=) |
single nucleotide variant |
not provided [RCV000979102] |
Chr2:43982380 [GRCh38]
Chr2:44209519 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274199]|not provided [RCV000918177] |
Chr2:43948413 [GRCh38]
Chr2:44175552 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.1650-299C>A |
single nucleotide variant |
not provided [RCV001708903] |
Chr2:43950899 [GRCh38]
Chr2:44178038 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3986-83C>T |
single nucleotide variant |
not provided [RCV001583515] |
Chr2:43889959 [GRCh38]
Chr2:44117098 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2080-40A>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543273]|not provided [RCV001597300] |
Chr2:43946283 [GRCh38]
Chr2:44173422 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1582+28T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543277]|not provided [RCV001595100] |
Chr2:43960513 [GRCh38]
Chr2:44187652 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.650+269T>G |
single nucleotide variant |
not provided [RCV001534359] |
Chr2:43976725 [GRCh38]
Chr2:44203864 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.607T>G (p.Leu203Val) |
single nucleotide variant |
not provided [RCV001573023] |
Chr2:43977037 [GRCh38]
Chr2:44204176 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.149+65C>T |
single nucleotide variant |
not provided [RCV001566022] |
Chr2:43995734 [GRCh38]
Chr2:44222873 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3909T>G (p.Thr1303=) |
single nucleotide variant |
not provided [RCV000941798] |
Chr2:43894621 [GRCh38]
Chr2:44121760 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+29A>G |
single nucleotide variant |
not provided [RCV001547829] |
Chr2:43995770 [GRCh38]
Chr2:44222909 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+83G>A |
single nucleotide variant |
not provided [RCV001586453] |
Chr2:43995716 [GRCh38]
Chr2:44222855 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.150-208T>C |
single nucleotide variant |
not provided [RCV001610953] |
Chr2:43982642 [GRCh38]
Chr2:44209781 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1921-124C>T |
single nucleotide variant |
not provided [RCV001577171] |
Chr2:43947899 [GRCh38]
Chr2:44175038 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4128+165_4128+166del |
deletion |
not provided [RCV001546272] |
Chr2:43889568..43889569 [GRCh38]
Chr2:44116707..44116708 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+215C>T |
single nucleotide variant |
not provided [RCV001551566] |
Chr2:43995584 [GRCh38]
Chr2:44222723 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1489-177C>T |
single nucleotide variant |
not provided [RCV001578108] |
Chr2:43960811 [GRCh38]
Chr2:44187950 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-304C>T |
single nucleotide variant |
not provided [RCV001568437] |
Chr2:43935182 [GRCh38]
Chr2:44162321 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140443]|not provided [RCV000981947] |
Chr2:43899509 [GRCh38]
Chr2:44126648 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1075C>T (p.Leu359=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001832169]|not provided [RCV000943892] |
Chr2:43974230 [GRCh38]
Chr2:44201369 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3855G>C (p.Pro1285=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001271671]|not provided [RCV000905032] |
Chr2:43896679 [GRCh38]
Chr2:44123818 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.347-4A>G |
single nucleotide variant |
not provided [RCV000907071] |
Chr2:43979952 [GRCh38]
Chr2:44207091 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.442A>C (p.Arg148=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274205]|not provided [RCV000900598] |
Chr2:43979853 [GRCh38]
Chr2:44206992 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1678-7T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142411]|not provided [RCV000945032] |
Chr2:43949666 [GRCh38]
Chr2:44176805 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.2761G>T (p.Ala921Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001826928]|Inborn genetic diseases [RCV003353083]|not provided [RCV000926729] |
Chr2:43925937 [GRCh38]
Chr2:44153076 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.2080-9G>A |
single nucleotide variant |
not provided [RCV000982535] |
Chr2:43946252 [GRCh38]
Chr2:44173391 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3771T>C (p.Phe1257=) |
single nucleotide variant |
not provided [RCV000925062] |
Chr2:43899273 [GRCh38]
Chr2:44126412 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2613T>C (p.Thr871=) |
single nucleotide variant |
not provided [RCV000928352] |
Chr2:43934770 [GRCh38]
Chr2:44161909 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3444A>G (p.Ala1148=) |
single nucleotide variant |
not provided [RCV000916102] |
Chr2:43901445 [GRCh38]
Chr2:44128584 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-10T>C |
single nucleotide variant |
not provided [RCV000927885] |
Chr2:43973724 [GRCh38]
Chr2:44200863 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.141C>G (p.Pro47=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142541]|not provided [RCV000944668] |
Chr2:43995807 [GRCh38]
Chr2:44222946 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.2392T>C (p.Leu798=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001827121]|not provided [RCV000983742] |
Chr2:43943799 [GRCh38]
Chr2:44170938 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2370C>T (p.Phe790=) |
single nucleotide variant |
not provided [RCV000927924] |
Chr2:43943821 [GRCh38]
Chr2:44170960 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.108C>T (p.Ala36=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001827110]|not provided [RCV000982252] |
Chr2:43995840 [GRCh38]
Chr2:44222979 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.283C>T (p.Arg95Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003467743]|not provided [RCV001045732] |
Chr2:43982301 [GRCh38]
Chr2:44209440 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3397C>T (p.Gln1133Ter) |
single nucleotide variant |
not provided [RCV001034745] |
Chr2:43901492 [GRCh38]
Chr2:44128631 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3744T>C (p.Phe1248=) |
single nucleotide variant |
not provided [RCV000930539] |
Chr2:43899300 [GRCh38]
Chr2:44126439 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1506T>C (p.Ser502=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001836023]|not provided [RCV000930540] |
Chr2:43960617 [GRCh38]
Chr2:44187756 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.276T>C (p.Leu92=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274206]|not provided [RCV000983591] |
Chr2:43982308 [GRCh38]
Chr2:44209447 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3276-8T>G |
single nucleotide variant |
not provided [RCV000978713] |
Chr2:43905788 [GRCh38]
Chr2:44132927 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.777A>G (p.Arg259=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001826965]|not provided [RCV000933083] |
Chr2:43975178 [GRCh38]
Chr2:44202317 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1899C>T (p.Tyr633=) |
single nucleotide variant |
not provided [RCV000942894] |
Chr2:43948143 [GRCh38]
Chr2:44175282 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1545A>G (p.Glu515=) |
single nucleotide variant |
not provided [RCV000929718] |
Chr2:43960578 [GRCh38]
Chr2:44187717 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1248C>T (p.Leu416=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001827108]|not provided [RCV000981966] |
Chr2:43973808 [GRCh38]
Chr2:44200947 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2766G>A (p.Arg922=) |
single nucleotide variant |
not provided [RCV000977430] |
Chr2:43925932 [GRCh38]
Chr2:44153071 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.627T>C (p.Asn209=) |
single nucleotide variant |
not provided [RCV000943841] |
Chr2:43977017 [GRCh38]
Chr2:44204156 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2896+8A>G |
single nucleotide variant |
not provided [RCV000975925] |
Chr2:43925059 [GRCh38]
Chr2:44152198 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3822A>G (p.Leu1274=) |
single nucleotide variant |
not provided [RCV000978589] |
Chr2:43899222 [GRCh38]
Chr2:44126361 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-5C>T |
single nucleotide variant |
not provided [RCV000916542] |
Chr2:43974300 [GRCh38]
Chr2:44201439 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001836014]|LRPPRC-related disorder [RCV003913074]|not provided [RCV000917635] |
Chr2:43901478 [GRCh38]
Chr2:44128617 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+8G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274200]|not provided [RCV000896466] |
Chr2:43957377 [GRCh38]
Chr2:44184516 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1488+8C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001271389]|not provided [RCV000919991] |
Chr2:43963580 [GRCh38]
Chr2:44190719 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139785]|not provided [RCV000977664] |
Chr2:43934814 [GRCh38]
Chr2:44161953 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.414G>A (p.Lys138=) |
single nucleotide variant |
not provided [RCV000978696] |
Chr2:43979881 [GRCh38]
Chr2:44207020 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2706A>C (p.Gly902=) |
single nucleotide variant |
not provided [RCV000977598] |
Chr2:43934220 [GRCh38]
Chr2:44161359 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4062G>C (p.Leu1354=) |
single nucleotide variant |
not provided [RCV000983224] |
Chr2:43889800 [GRCh38]
Chr2:44116939 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4060C>T (p.Leu1354=) |
single nucleotide variant |
not provided [RCV000924656] |
Chr2:43889802 [GRCh38]
Chr2:44116941 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3792A>G (p.Ala1264=) |
single nucleotide variant |
not provided [RCV000980725] |
Chr2:43899252 [GRCh38]
Chr2:44126391 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000781512] |
Chr2:43918043 [GRCh38]
Chr2:44145182 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3900+193G>T |
single nucleotide variant |
not provided [RCV000831817] |
Chr2:43896441 [GRCh38]
Chr2:44123580 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-149T>C |
single nucleotide variant |
not provided [RCV000835666] |
Chr2:43935027 [GRCh38]
Chr2:44162166 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2211-80A>G |
single nucleotide variant |
not provided [RCV000835692] |
Chr2:43945497 [GRCh38]
Chr2:44172636 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2373C>T (p.His791=) |
single nucleotide variant |
not provided [RCV000842247] |
Chr2:43943818 [GRCh38]
Chr2:44170957 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3342A>G (p.Gln1114=) |
single nucleotide variant |
not provided [RCV000997122] |
Chr2:43905714 [GRCh38]
Chr2:44132853 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3709+1G>T |
single nucleotide variant |
not provided [RCV000796574] |
Chr2:43899465 [GRCh38]
Chr2:44126604 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3799del (p.Val1267fs) |
deletion |
not provided [RCV000799334] |
Chr2:43899245 [GRCh38]
Chr2:44126384 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1488+40A>T |
single nucleotide variant |
not provided [RCV000834852] |
Chr2:43963548 [GRCh38]
Chr2:44190687 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1677+294C>A |
single nucleotide variant |
not provided [RCV000833448] |
Chr2:43950279 [GRCh38]
Chr2:44177418 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2504+128G>C |
single nucleotide variant |
not provided [RCV000836847] |
Chr2:43943559 [GRCh38]
Chr2:44170698 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.42C>T (p.Ala14=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001271391]|not provided [RCV000975330] |
Chr2:43995906 [GRCh38]
Chr2:44223045 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3969C>T (p.Ser1323=) |
single nucleotide variant |
not provided [RCV000976489] |
Chr2:43894561 [GRCh38]
Chr2:44121700 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3365-249G>A |
single nucleotide variant |
not provided [RCV000830468] |
Chr2:43901773 [GRCh38]
Chr2:44128912 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3986-31T>G |
single nucleotide variant |
not provided [RCV000835423] |
Chr2:43889907 [GRCh38]
Chr2:44117046 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2487C>T (p.Val829=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003983213]|not provided [RCV000827399] |
Chr2:43943704 [GRCh38]
Chr2:44170843 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1677+258A>G |
single nucleotide variant |
not provided [RCV000830439] |
Chr2:43950315 [GRCh38]
Chr2:44177454 [GRCh37]
Chr2:2p21 |
benign |
| GRCh37/hg19 2p21(chr2:44024281-44136423)x1 |
copy number loss |
not provided [RCV000847791] |
Chr2:44024281..44136423 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.470-132C>G |
single nucleotide variant |
not provided [RCV000835547] |
Chr2:43977408 [GRCh38]
Chr2:44204547 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1261+8A>G |
single nucleotide variant |
not provided [RCV000841912] |
Chr2:43973787 [GRCh38]
Chr2:44200926 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.620A>T (p.Tyr207Phe) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001830824]|Inborn genetic diseases [RCV004986641]|not provided [RCV000824007] |
Chr2:43977024 [GRCh38]
Chr2:44204163 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.525T>C (p.Asn175=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140661]|not provided [RCV000840751] |
Chr2:43977221 [GRCh38]
Chr2:44204360 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.2897-262G>A |
single nucleotide variant |
not provided [RCV000830463] |
Chr2:43918660 [GRCh38]
Chr2:43918660..43918661 [GRCh38]
Chr2:44145799 [GRCh37]
Chr2:44145799..44145800 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1155+30A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543316]|not provided [RCV000830852] |
Chr2:43974120 [GRCh38]
Chr2:44201259 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1558A>G (p.Asn520Asp) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137660]|Inborn genetic diseases [RCV004639480] |
Chr2:43960565 [GRCh38]
Chr2:44187704 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1843-28T>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543275]|not provided [RCV000830867] |
Chr2:43948227 [GRCh38]
Chr2:44175366 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.*1689G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137346] |
Chr2:43886911 [GRCh38]
Chr2:44114050 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.469+1G>C |
single nucleotide variant |
not provided [RCV000804658] |
Chr2:43979825 [GRCh38]
Chr2:44206964 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.-33G>A |
single nucleotide variant |
not provided [RCV000840132] |
Chr2:43995980 [GRCh38]
Chr2:44223119 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3279G>T (p.Ala1093=) |
single nucleotide variant |
not provided [RCV000982033] |
Chr2:43905777 [GRCh38]
Chr2:44132916 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4077C>T (p.Tyr1359=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001830851]|not provided [RCV000830706] |
Chr2:43889785 [GRCh38]
Chr2:44116924 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-9T>C |
single nucleotide variant |
not provided [RCV000982093] |
Chr2:43889885 [GRCh38]
Chr2:44117024 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-70T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543317]|not provided [RCV000830851] |
Chr2:43975287 [GRCh38]
Chr2:44202426 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1921-54A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543274]|not provided [RCV000830905] |
Chr2:43947829 [GRCh38]
Chr2:44174968 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1236T>C (p.His412=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274203]|LRPPRC-related disorder [RCV003975356]|not provided [RCV000841523] |
Chr2:43973820 [GRCh38]
Chr2:44200959 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.149+276T>C |
single nucleotide variant |
not provided [RCV000844516] |
Chr2:43995523 [GRCh38]
Chr2:44222662 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.150-233G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543318]|not provided [RCV000844519] |
Chr2:43982667 [GRCh38]
Chr2:44209806 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.469+166T>G |
single nucleotide variant |
not provided [RCV000844520] |
Chr2:43979660 [GRCh38]
Chr2:44206799 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.470-302A>G |
single nucleotide variant |
not provided [RCV000844521] |
Chr2:43977578 [GRCh38]
Chr2:44204717 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.651-211C>T |
single nucleotide variant |
not provided [RCV000844522] |
Chr2:43976440 [GRCh38]
Chr2:44203579 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1488+335G>A |
single nucleotide variant |
not provided [RCV000844523] |
Chr2:43963253 [GRCh38]
Chr2:44190392 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1650-295A>G |
single nucleotide variant |
not provided [RCV000844524] |
Chr2:43950895 [GRCh38]
Chr2:44178034 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1650-209A>G |
single nucleotide variant |
not provided [RCV000844525] |
Chr2:43950809 [GRCh38]
Chr2:44177948 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1677+152G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543276]|not provided [RCV000844526] |
Chr2:43950421 [GRCh38]
Chr2:44177560 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2504+245T>A |
single nucleotide variant |
not provided [RCV000844527] |
Chr2:43943442 [GRCh38]
Chr2:44170581 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2505-303A>G |
single nucleotide variant |
not provided [RCV000844530] |
Chr2:43935181 [GRCh38]
Chr2:44162320 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2737-230C>G |
single nucleotide variant |
not provided [RCV000844533] |
Chr2:43926191 [GRCh38]
Chr2:44153330 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2806-233A>T |
single nucleotide variant |
not provided [RCV000844534] |
Chr2:43925390 [GRCh38]
Chr2:44152529 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2897-300T>G |
single nucleotide variant |
not provided [RCV000844536] |
Chr2:43918698 [GRCh38]
Chr2:44145837 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3149-289C>T |
single nucleotide variant |
not provided [RCV000844539] |
Chr2:43912847 [GRCh38]
Chr2:44139986 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3826-208A>G |
single nucleotide variant |
not provided [RCV000844540] |
Chr2:43896916 [GRCh38]
Chr2:44124055 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3901-175T>C |
single nucleotide variant |
not provided [RCV000844543] |
Chr2:43894804 [GRCh38]
Chr2:44121943 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3901-160A>G |
single nucleotide variant |
not provided [RCV000844545] |
Chr2:43894789 [GRCh38]
Chr2:44121928 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.4129-305G>A |
single nucleotide variant |
not provided [RCV000844546] |
Chr2:43888961 [GRCh38]
Chr2:44116100 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3999T>C (p.Asp1333=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001271670]|not provided [RCV000976542] |
Chr2:43889863 [GRCh38]
Chr2:44117002 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.3(LRPPRC):c.-272G>C |
single nucleotide variant |
not provided [RCV000831812] |
Chr2:43996219 [GRCh38]
Chr2:44223358 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3570-188A>T |
single nucleotide variant |
not provided [RCV000831815] |
Chr2:43899793 [GRCh38]
Chr2:44126932 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3825+299A>G |
single nucleotide variant |
not provided [RCV000831816] |
Chr2:43898920 [GRCh38]
Chr2:44126059 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2610G>C (p.Glu870Asp) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000845053]|Inborn genetic diseases [RCV002538342] |
Chr2:43934773 [GRCh38]
Chr2:44161912 [GRCh37]
Chr2:2p21 |
uncertain significance|not provided |
| NM_133259.4(LRPPRC):c.2904C>T (p.Asn968=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274197]|not provided [RCV000979510] |
Chr2:43918391 [GRCh38]
Chr2:44145530 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1348C>A (p.Arg450=) |
single nucleotide variant |
not provided [RCV000941655] |
Chr2:43973628 [GRCh38]
Chr2:44200767 [GRCh37]
Chr2:2p21 |
likely benign |
| GRCh37/hg19 2p21(chr2:43995167-44385714)x3 |
copy number gain |
not provided [RCV001005254] |
Chr2:43995167..44385714 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-9C>G |
single nucleotide variant |
not provided [RCV000975931] |
Chr2:43973723 [GRCh38]
Chr2:44200862 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV000985154] |
Chr2:43973879 [GRCh38]
Chr2:44201018 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1914_1917del (p.Ile639fs) |
deletion |
not provided [RCV001225451] |
Chr2:43948125..43948128 [GRCh38]
Chr2:44175264..44175267 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3323G>T (p.Ser1108Ile) |
single nucleotide variant |
not provided [RCV000997123] |
Chr2:43905733 [GRCh38]
Chr2:44132872 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.967G>A (p.Glu323Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003270136] |
Chr2:43974656 [GRCh38]
Chr2:44201795 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.999A>G (p.Arg333=) |
single nucleotide variant |
not provided [RCV003313597] |
Chr2:43974624 [GRCh38]
Chr2:44201763 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139788] |
Chr2:43943720 [GRCh38]
Chr2:44170859 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1009+15A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139883]|not provided [RCV002070666] |
Chr2:43974599 [GRCh38]
Chr2:44201738 [GRCh37]
Chr2:2p21 |
benign|uncertain significance |
| NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140658] |
Chr2:43975111 [GRCh38]
Chr2:44202250 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.803A>G (p.Asp268Gly) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140659] |
Chr2:43975152 [GRCh38]
Chr2:44202291 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1719G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137344] |
Chr2:43886881 [GRCh38]
Chr2:44114020 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*518A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137461] |
Chr2:43888082 [GRCh38]
Chr2:44115221 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2224A>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139479] |
Chr2:43886376 [GRCh38]
Chr2:44113515 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.470-30del |
deletion |
not provided [RCV001569411] |
Chr2:43977306 [GRCh38]
Chr2:44204445 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+274C>T |
single nucleotide variant |
not provided [RCV001569525] |
Chr2:43995525 [GRCh38]
Chr2:44222664 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-242G>A |
single nucleotide variant |
not provided [RCV001566289] |
Chr2:43935120 [GRCh38]
Chr2:44162259 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1920+53G>A |
single nucleotide variant |
not provided [RCV001570274] |
Chr2:43948069 [GRCh38]
Chr2:44175208 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.453C>T (p.Asp151=) |
single nucleotide variant |
not provided [RCV003104538] |
Chr2:43979842 [GRCh38]
Chr2:44206981 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2897-39A>G |
single nucleotide variant |
not provided [RCV001560233] |
Chr2:43918437 [GRCh38]
Chr2:44145576 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+297T>A |
single nucleotide variant |
not provided [RCV001549819] |
Chr2:43957088 [GRCh38]
Chr2:44184227 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2296+27T>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543272]|not provided [RCV001541715] |
Chr2:43945305 [GRCh38]
Chr2:44172444 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3275+97T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543268]|not provided [RCV001647386] |
Chr2:43912335 [GRCh38]
Chr2:44139474 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1489-56T>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543278]|not provided [RCV001712997] |
Chr2:43960690 [GRCh38]
Chr2:44187829 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.149+57G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543319]|not provided [RCV001712999] |
Chr2:43995742 [GRCh38]
Chr2:44222881 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1677+67G>C |
single nucleotide variant |
not provided [RCV001550041] |
Chr2:43950506 [GRCh38]
Chr2:44177645 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1155+60_1155+66del |
deletion |
not provided [RCV001534476] |
Chr2:43974084..43974090 [GRCh38]
Chr2:44201223..44201229 [GRCh37]
Chr2:2p21 |
likely benign |
| NC_000002.12:g.43996027_43996029dup |
duplication |
not provided [RCV001556437] |
Chr2:43996024..43996025 [GRCh38]
Chr2:44223163..44223164 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1736-215A>G |
single nucleotide variant |
not provided [RCV001709199] |
Chr2:43948733 [GRCh38]
Chr2:44175872 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.865-166T>C |
single nucleotide variant |
not provided [RCV001592167] |
Chr2:43974924 [GRCh38]
Chr2:44202063 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1677+178T>C |
single nucleotide variant |
not provided [RCV001682157] |
Chr2:43950395 [GRCh38]
Chr2:44177534 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.650+116G>C |
single nucleotide variant |
not provided [RCV001716231] |
Chr2:43976878 [GRCh38]
Chr2:44204017 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.4180T>G (p.Ser1394Ala) |
single nucleotide variant |
not provided [RCV001577787] |
Chr2:43888605 [GRCh38]
Chr2:44115744 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.4129-247_4129-246del |
deletion |
not provided [RCV001685793] |
Chr2:43888902..43888903 [GRCh38]
Chr2:44116041..44116042 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1920+126C>T |
single nucleotide variant |
not provided [RCV001563403] |
Chr2:43947996 [GRCh38]
Chr2:44175135 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3275+230T>G |
single nucleotide variant |
not provided [RCV001575676] |
Chr2:43912202 [GRCh38]
Chr2:44139341 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1678-277A>G |
single nucleotide variant |
not provided [RCV001552382] |
Chr2:43949936 [GRCh38]
Chr2:44177075 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3828A>G (p.Arg1276=) |
single nucleotide variant |
not provided [RCV001552561] |
Chr2:43896706 [GRCh38]
Chr2:44123845 [GRCh37]
Chr2:2p21 |
likely benign |
| NC_000002.12:g.43996070C>G |
single nucleotide variant |
not provided [RCV001559420] |
Chr2:43996070 [GRCh38]
Chr2:44223209 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.189C>G (p.Ala63=) |
single nucleotide variant |
not provided [RCV000924953] |
Chr2:43982395 [GRCh38]
Chr2:44209534 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.138G>T (p.Gly46=) |
single nucleotide variant |
not provided [RCV000975337] |
Chr2:43995810 [GRCh38]
Chr2:44222949 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.346+9A>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140662]|not provided [RCV000944677] |
Chr2:43982229 [GRCh38]
Chr2:44209368 [GRCh37]
Chr2:2p21 |
benign|uncertain significance |
| NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140442]|LRPPRC-related disorder [RCV003903018]|not provided [RCV000922943] |
Chr2:43889784 [GRCh38]
Chr2:43889784..43889785 [GRCh38]
Chr2:44116923 [GRCh37]
Chr2:44116923..44116924 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.1609C>T (p.Leu537=) |
single nucleotide variant |
not provided [RCV000977422] |
Chr2:43957425 [GRCh38]
Chr2:44184564 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1632A>T (p.Leu544=) |
single nucleotide variant |
not provided [RCV000980123] |
Chr2:43957402 [GRCh38]
Chr2:44184541 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.582A>G (p.Gln194=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001271390]|not provided [RCV000919842] |
Chr2:43977164 [GRCh38]
Chr2:44204303 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2460A>G (p.Pro820=) |
single nucleotide variant |
not provided [RCV000977802] |
Chr2:43943731 [GRCh38]
Chr2:44170870 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2262T>C (p.Leu754=) |
single nucleotide variant |
not provided [RCV000931264] |
Chr2:43945366 [GRCh38]
Chr2:44172505 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3408C>T (p.Thr1136=) |
single nucleotide variant |
not provided [RCV000942130] |
Chr2:43901481 [GRCh38]
Chr2:44128620 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3985+8A>G |
single nucleotide variant |
not provided [RCV000932818] |
Chr2:43894537 [GRCh38]
Chr2:44121676 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.135C>G (p.Ala45=) |
single nucleotide variant |
not provided [RCV000930729] |
Chr2:43995813 [GRCh38]
Chr2:44222952 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001276353]|LRPPRC-related disorder [RCV003925809]|not provided [RCV000933384] |
Chr2:43889788 [GRCh38]
Chr2:44116927 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2121C>T (p.Ser707=) |
single nucleotide variant |
not provided [RCV000929272] |
Chr2:43946202 [GRCh38]
Chr2:44173341 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2070T>C (p.Cys690=) |
single nucleotide variant |
not provided [RCV000942826] |
Chr2:43947266 [GRCh38]
Chr2:44174405 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1929C>T (p.His643=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140554]|LRPPRC-related disorder [RCV003950597]|not provided [RCV000902482]|not specified [RCV004702513] |
Chr2:43947767 [GRCh38]
Chr2:44174906 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001274201]|not provided [RCV000929492] |
Chr2:43957404 [GRCh38]
Chr2:44184543 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140020] |
Chr2:43995943 [GRCh38]
Chr2:44223082 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2157T>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140255] |
Chr2:43886443 [GRCh38]
Chr2:44113582 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1458A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140344]|not provided [RCV004694869] |
Chr2:43887142 [GRCh38]
Chr2:44114281 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1372G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140346] |
Chr2:43887228 [GRCh38]
Chr2:44114367 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1752C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142093] |
Chr2:43886848 [GRCh38]
Chr2:44113987 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3473T>C (p.Ile1158Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142300]|Inborn genetic diseases [RCV003259118] |
Chr2:43901416 [GRCh38]
Chr2:44128555 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2395A>T (p.Arg799Ter) |
single nucleotide variant |
not provided [RCV001248652] |
Chr2:43943796 [GRCh38]
Chr2:44170935 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.*1652C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139578] |
Chr2:43886948 [GRCh38]
Chr2:44114087 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*218A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139679] |
Chr2:43888382 [GRCh38]
Chr2:44115521 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.60C>T (p.Leu20=) |
single nucleotide variant |
not provided [RCV000912132] |
Chr2:43995888 [GRCh38]
Chr2:44223027 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1986T>C (p.Ser662=) |
single nucleotide variant |
not provided [RCV000913573] |
Chr2:43947350 [GRCh38]
Chr2:44174489 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+8T>G |
single nucleotide variant |
not provided [RCV000912375] |
Chr2:43975083 [GRCh38]
Chr2:44202222 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3522T>C (p.Leu1174=) |
single nucleotide variant |
not provided [RCV002857899] |
Chr2:43901367 [GRCh38]
Chr2:44128506 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1035A>G (p.Leu345=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001578667] |
Chr2:43974270 [GRCh38]
Chr2:44201409 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1583-81T>C |
single nucleotide variant |
not provided [RCV001570139] |
Chr2:43957532 [GRCh38]
Chr2:44184671 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001827479]|LRPPRC-related disorder [RCV003966197]|not provided [RCV001563474] |
Chr2:43946182 [GRCh38]
Chr2:44173321 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3985+188_3985+190del |
deletion |
not provided [RCV001563490] |
Chr2:43894355..43894357 [GRCh38]
Chr2:44121494..44121496 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3900+100del |
deletion |
not provided [RCV001649376] |
Chr2:43896534 [GRCh38]
Chr2:44123673 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1488+247C>T |
single nucleotide variant |
not provided [RCV001553211] |
Chr2:43963341 [GRCh38]
Chr2:44190480 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3900+259G>T |
single nucleotide variant |
not provided [RCV001554938] |
Chr2:43896375 [GRCh38]
Chr2:44123514 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+38del |
deletion |
not provided [RCV001566023] |
Chr2:43934716 [GRCh38]
Chr2:44161855 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-54C>A |
single nucleotide variant |
not provided [RCV001561156] |
Chr2:43947424 [GRCh38]
Chr2:44174563 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-201T>A |
single nucleotide variant |
not provided [RCV001596653] |
Chr2:43976430 [GRCh38]
Chr2:44203569 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1550C>G (p.Ala517Gly) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004818895] |
Chr2:43960573 [GRCh38]
Chr2:44187712 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.40G>A (p.Ala14Thr) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004818896] |
Chr2:43995908 [GRCh38]
Chr2:44223047 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3365-34A>G |
single nucleotide variant |
not provided [RCV001616051] |
Chr2:43901558 [GRCh38]
Chr2:44128697 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.650+268_650+269insG |
insertion |
not provided [RCV001641691] |
Chr2:43976725..43976726 [GRCh38]
Chr2:44203864..44203865 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.346+243del |
deletion |
not provided [RCV001715889] |
Chr2:43981995 [GRCh38]
Chr2:44209134 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.149+49C>T |
single nucleotide variant |
not provided [RCV001596107] |
Chr2:43995750 [GRCh38]
Chr2:44222889 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.*735C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142200] |
Chr2:43887865 [GRCh38]
Chr2:44115004 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142298] |
Chr2:43899516 [GRCh38]
Chr2:44126655 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1735+5C>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142410] |
Chr2:43949597 [GRCh38]
Chr2:44176736 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*996A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142199] |
Chr2:43887604 [GRCh38]
Chr2:44114743 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*734A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142201]|not provided [RCV004710259] |
Chr2:43887866 [GRCh38]
Chr2:44115005 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.*1717C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137345] |
Chr2:43886883 [GRCh38]
Chr2:44114022 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1684C>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137348] |
Chr2:43886916 [GRCh38]
Chr2:44114055 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*587C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137460] |
Chr2:43888013 [GRCh38]
Chr2:44115152 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2230A>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139478] |
Chr2:43886370 [GRCh38]
Chr2:44113509 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*420C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139678] |
Chr2:43888180 [GRCh38]
Chr2:44115319 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139786] |
Chr2:43934838 [GRCh38]
Chr2:44161977 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2289A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139477] |
Chr2:43886311 [GRCh38]
Chr2:44113450 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2192A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139480] |
Chr2:43886408 [GRCh38]
Chr2:44113547 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*2042G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140256] |
Chr2:43886558 [GRCh38]
Chr2:44113697 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1435C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140345] |
Chr2:43887165 [GRCh38]
Chr2:44114304 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.334dup (p.Thr112fs) |
duplication |
not provided [RCV001228826] |
Chr2:43982249..43982250 [GRCh38]
Chr2:44209388..44209389 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1920+11A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140555]|not provided [RCV002070682] |
Chr2:43948111 [GRCh38]
Chr2:44175250 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142299]|LRPPRC-related disorder [RCV003906259]|not provided [RCV001460553] |
Chr2:43899527 [GRCh38]
Chr2:44126666 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142412] |
Chr2:43957411 [GRCh38]
Chr2:44184550 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.803A>C (p.Asp268Ala) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140660] |
Chr2:43975152 [GRCh38]
Chr2:44202291 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3364+1G>C |
single nucleotide variant |
not provided [RCV001228667] |
Chr2:43905691 [GRCh38]
Chr2:44132830 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.*1894C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142092] |
Chr2:43886706 [GRCh38]
Chr2:44113845 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1370-253C>G |
single nucleotide variant |
not provided [RCV001586359] |
Chr2:43963959 [GRCh38]
Chr2:44191098 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1370-235T>C |
single nucleotide variant |
not provided [RCV001613892] |
Chr2:43963941 [GRCh38]
Chr2:44191080 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2737-232C>A |
single nucleotide variant |
not provided [RCV001588532] |
Chr2:43926193 [GRCh38]
Chr2:44153332 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+30dup |
duplication |
not provided [RCV001713381] |
Chr2:43934715..43934716 [GRCh38]
Chr2:44161854..44161855 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.149+156G>T |
single nucleotide variant |
not provided [RCV001685183] |
Chr2:43995643 [GRCh38]
Chr2:44222782 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2211-111C>T |
single nucleotide variant |
not provided [RCV001584628] |
Chr2:43945528 [GRCh38]
Chr2:44172667 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4128+37G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543226]|not provided [RCV001647385] |
Chr2:43889697 [GRCh38]
Chr2:43889697..43889698 [GRCh38]
Chr2:44116836 [GRCh37]
Chr2:44116836..44116837 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2896+26C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543270]|not provided [RCV001655844] |
Chr2:43925041 [GRCh38]
Chr2:44152180 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2805+124G>A |
single nucleotide variant |
not provided [RCV001584970] |
Chr2:43925769 [GRCh38]
Chr2:44152908 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3900+298C>T |
single nucleotide variant |
not provided [RCV001583555] |
Chr2:43896336 [GRCh38]
Chr2:44123475 [GRCh37]
Chr2:2p21 |
likely benign |
| NC_000002.12:g.43996256A>C |
single nucleotide variant |
not provided [RCV001581515] |
Chr2:43996256 [GRCh38]
Chr2:44223395 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-172G>A |
single nucleotide variant |
not provided [RCV001611770] |
Chr2:43976401 [GRCh38]
Chr2:44203540 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2630-22T>C |
single nucleotide variant |
not provided [RCV001668985] |
Chr2:43934318 [GRCh38]
Chr2:44161457 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1316C>T (p.Pro439Leu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001578666] |
Chr2:43973660 [GRCh38]
Chr2:44200799 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1267del (p.Ala423fs) |
deletion |
not provided [RCV001220221] |
Chr2:43973709 [GRCh38]
Chr2:44200848 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.*1685G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137347] |
Chr2:43886915 [GRCh38]
Chr2:44114054 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001004168]|not provided [RCV002549234] |
Chr2:43943865 [GRCh38]
Chr2:44171004 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001137556]|not provided [RCV001393670] |
Chr2:43918080 [GRCh38]
Chr2:44145219 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142301] |
Chr2:43901438 [GRCh38]
Chr2:44128577 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3524C>G (p.Ser1175Ter) |
single nucleotide variant |
not provided [RCV001037065] |
Chr2:43901365 [GRCh38]
Chr2:44128504 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.*1370G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140347] |
Chr2:43887230 [GRCh38]
Chr2:44114369 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1355C>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001140348] |
Chr2:43887245 [GRCh38]
Chr2:44114384 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.802G>C (p.Asp268His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001833767]|not provided [RCV001200428] |
Chr2:43975153 [GRCh38]
Chr2:44202292 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1895G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001142091] |
Chr2:43886705 [GRCh38]
Chr2:44113844 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*110G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139680] |
Chr2:43888490 [GRCh38]
Chr2:44115629 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1038C>T (p.Val346=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001139882] |
Chr2:43974267 [GRCh38]
Chr2:44201406 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4011dup (p.Lys1338Ter) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005029836]|not provided [RCV001246303] |
Chr2:43889850..43889851 [GRCh38]
Chr2:44116989..44116990 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004799286] |
Chr2:43974658 [GRCh38]
Chr2:44201797 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1547C>T (p.Ala516Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001334480]|Inborn genetic diseases [RCV004988552]|not provided [RCV005094432] |
Chr2:43960576 [GRCh38]
Chr2:44187715 [GRCh37]
Chr2:2p21 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_133259.4(LRPPRC):c.2296+21G>T |
single nucleotide variant |
not provided [RCV001545623] |
Chr2:43945311 [GRCh38]
Chr2:44172450 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001291689] |
Chr2:43901321 [GRCh38]
Chr2:44128460 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001330270]|Inborn genetic diseases [RCV001266993]|LRPPRC-related disorder [RCV003393936] |
Chr2:43889784 [GRCh38]
Chr2:44116923 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3275+3_3275+6del |
deletion |
not provided [RCV001889314] |
Chr2:43912426..43912429 [GRCh38]
Chr2:44139565..44139568 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1998C>T (p.Ser666=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279486] |
Chr2:43947338 [GRCh38]
Chr2:44174477 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1299A>G (p.Glu433=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279490] |
Chr2:43973677 [GRCh38]
Chr2:44200816 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.808T>C (p.Tyr270His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279491]|not provided [RCV003235533] |
Chr2:43975147 [GRCh38]
Chr2:44202286 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.676A>G (p.Lys226Glu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279492] |
Chr2:43976204 [GRCh38]
Chr2:44203343 [GRCh37]
Chr2:2p21 |
uncertain significance |
| GRCh37/hg19 2p21(chr2:44058332-44323064)x3 |
copy number gain |
not provided [RCV001258529] |
Chr2:44058332..44323064 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.295C>T (p.Arg99Cys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001330269]|not provided [RCV001863218] |
Chr2:43982289 [GRCh38]
Chr2:44209428 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.254G>C (p.Trp85Ser) |
single nucleotide variant |
not provided [RCV001311922] |
Chr2:43982330 [GRCh38]
Chr2:44209469 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3900+1G>T |
single nucleotide variant |
not provided [RCV002664232] |
Chr2:43896633 [GRCh38]
Chr2:44123772 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1695C>G (p.Tyr565Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001334481] |
Chr2:43949642 [GRCh38]
Chr2:44176781 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3786G>C (p.Val1262=) |
single nucleotide variant |
not provided [RCV001396526] |
Chr2:43899258 [GRCh38]
Chr2:44126397 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.347-5C>T |
single nucleotide variant |
not provided [RCV001392334] |
Chr2:43979953 [GRCh38]
Chr2:44207092 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2100A>G (p.Glu700=) |
single nucleotide variant |
not provided [RCV001422734] |
Chr2:43946223 [GRCh38]
Chr2:44173362 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3900+9C>T |
single nucleotide variant |
not provided [RCV001392349] |
Chr2:43896625 [GRCh38]
Chr2:44123764 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3351G>A (p.Arg1117=) |
single nucleotide variant |
not provided [RCV001397660] |
Chr2:43905705 [GRCh38]
Chr2:44132844 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2301T>A (p.Ala767=) |
single nucleotide variant |
not provided [RCV001392096] |
Chr2:43943890 [GRCh38]
Chr2:44171029 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.81C>G (p.Leu27=) |
single nucleotide variant |
not provided [RCV001396939] |
Chr2:43995867 [GRCh38]
Chr2:44223006 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.270A>G (p.Leu90=) |
single nucleotide variant |
not provided [RCV001433857] |
Chr2:43982314 [GRCh38]
Chr2:44209453 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3699A>C (p.Ala1233=) |
single nucleotide variant |
not provided [RCV001397697] |
Chr2:43899476 [GRCh38]
Chr2:44126615 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.858T>G (p.Val286=) |
single nucleotide variant |
not provided [RCV001414730] |
Chr2:43975097 [GRCh38]
Chr2:44202236 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.933C>T (p.Ser311=) |
single nucleotide variant |
not provided [RCV001412769] |
Chr2:43974690 [GRCh38]
Chr2:44201829 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2226A>G (p.Ser742=) |
single nucleotide variant |
not provided [RCV001422199] |
Chr2:43945402 [GRCh38]
Chr2:44172541 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1503G>T (p.Leu501=) |
single nucleotide variant |
not provided [RCV001422217] |
Chr2:43960620 [GRCh38]
Chr2:44187759 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1383C>A (p.Ile461=) |
single nucleotide variant |
not provided [RCV001413359] |
Chr2:43963693 [GRCh38]
Chr2:44190832 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.171G>A (p.Arg57=) |
single nucleotide variant |
not provided [RCV001422249] |
Chr2:43982413 [GRCh38]
Chr2:44209552 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2865C>T (p.Asp955=) |
single nucleotide variant |
not provided [RCV001392332] |
Chr2:43925098 [GRCh38]
Chr2:44152237 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1706G>A (p.Arg569His) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279488]|Inborn genetic diseases [RCV004629530] |
Chr2:43949631 [GRCh38]
Chr2:44176770 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.348T>C (p.Gly116=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279493] |
Chr2:43979947 [GRCh38]
Chr2:44207086 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3870C>T (p.Phe1290=) |
single nucleotide variant |
not provided [RCV001421440] |
Chr2:43896664 [GRCh38]
Chr2:44123803 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2154A>C (p.Ile718=) |
single nucleotide variant |
not provided [RCV001392439] |
Chr2:43946169 [GRCh38]
Chr2:44173308 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1736-7T>C |
single nucleotide variant |
not provided [RCV001414233] |
Chr2:43948525 [GRCh38]
Chr2:44175664 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2337T>G (p.Val779=) |
single nucleotide variant |
not provided [RCV001422689] |
Chr2:43943854 [GRCh38]
Chr2:44170993 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3003A>G (p.Arg1001=) |
single nucleotide variant |
not provided [RCV001397618] |
Chr2:43918292 [GRCh38]
Chr2:44145431 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1921-7A>G |
single nucleotide variant |
Leigh syndrome [RCV001270837] |
Chr2:43947782 [GRCh38]
Chr2:44174921 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.338G>T (p.Cys113Phe) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001335347] |
Chr2:43982246 [GRCh38]
Chr2:44209385 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3935C>G (p.Pro1312Arg) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279484] |
Chr2:43894595 [GRCh38]
Chr2:44121734 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.116A>G (p.Tyr39Cys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001334479]|not provided [RCV002276694] |
Chr2:43995832 [GRCh38]
Chr2:44222971 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1921-1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001335346] |
Chr2:43947776 [GRCh38]
Chr2:44174915 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2966G>C (p.Arg989Pro) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001830994]|not provided [RCV001324848] |
Chr2:43918329 [GRCh38]
Chr2:44145468 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.695A>C (p.Glu232Ala) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001335349] |
Chr2:43976185 [GRCh38]
Chr2:44203324 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.289A>G (p.Thr97Ala) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001330268] |
Chr2:43982295 [GRCh38]
Chr2:44209434 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1765A>T (p.Ile589Phe) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279487] |
Chr2:43948489 [GRCh38]
Chr2:44175628 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.217A>G (p.Thr73Ala) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001279494] |
Chr2:43982367 [GRCh38]
Chr2:44209506 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.126C>T (p.Ala42=) |
single nucleotide variant |
not provided [RCV001421821] |
Chr2:43995822 [GRCh38]
Chr2:44222961 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.540A>C (p.Ser180=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003953707]|not provided [RCV001395448] |
Chr2:43977206 [GRCh38]
Chr2:44204345 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2280G>A (p.Lys760=) |
single nucleotide variant |
not provided [RCV001395190] |
Chr2:43945348 [GRCh38]
Chr2:44172487 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2352A>T (p.Thr784=) |
single nucleotide variant |
not provided [RCV001413226] |
Chr2:43943839 [GRCh38]
Chr2:44170978 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2472A>T (p.Ile824=) |
single nucleotide variant |
not provided [RCV001490284] |
Chr2:43943719 [GRCh38]
Chr2:44170858 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-4C>G |
single nucleotide variant |
not provided [RCV001492169] |
Chr2:43934300 [GRCh38]
Chr2:44161439 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2697A>G (p.Leu899=) |
single nucleotide variant |
not provided [RCV001461550] |
Chr2:43934229 [GRCh38]
Chr2:44161368 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2497T>C (p.Leu833=) |
single nucleotide variant |
not provided [RCV001482119] |
Chr2:43943694 [GRCh38]
Chr2:44170833 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1542T>C (p.Ser514=) |
single nucleotide variant |
not provided [RCV001404492] |
Chr2:43960581 [GRCh38]
Chr2:44187720 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.27T>C (p.Arg9=) |
single nucleotide variant |
not provided [RCV001450799] |
Chr2:43995921 [GRCh38]
Chr2:44223060 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1365T>G (p.Val455=) |
single nucleotide variant |
not provided [RCV001461895] |
Chr2:43973611 [GRCh38]
Chr2:44200750 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4165T>C (p.Leu1389=) |
single nucleotide variant |
not provided [RCV001440966] |
Chr2:43888620 [GRCh38]
Chr2:44115759 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.528A>G (p.Glu176=) |
single nucleotide variant |
not provided [RCV001416725] |
Chr2:43977218 [GRCh38]
Chr2:44204357 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3258A>G (p.Ala1086=) |
single nucleotide variant |
not provided [RCV001466810] |
Chr2:43912449 [GRCh38]
Chr2:44139588 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.51C>T (p.Ala17=) |
single nucleotide variant |
not provided [RCV001502655] |
Chr2:43995897 [GRCh38]
Chr2:44223036 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1687T>C (p.Leu563=) |
single nucleotide variant |
not provided [RCV001438724] |
Chr2:43949650 [GRCh38]
Chr2:44176789 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2737-7T>G |
single nucleotide variant |
not provided [RCV001394320] |
Chr2:43925968 [GRCh38]
Chr2:44153107 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3072T>C (p.Asn1024=) |
single nucleotide variant |
not provided [RCV001490695] |
Chr2:43918101 [GRCh38]
Chr2:44145240 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-7_3986-6del |
deletion |
not provided [RCV001502918] |
Chr2:43889882..43889883 [GRCh38]
Chr2:44117021..44117022 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-4A>G |
single nucleotide variant |
not provided [RCV001495934] |
Chr2:43974762 [GRCh38]
Chr2:44201901 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+8T>A |
single nucleotide variant |
not provided [RCV001482009] |
Chr2:43974606 [GRCh38]
Chr2:44201745 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.339C>T (p.Cys113=) |
single nucleotide variant |
not provided [RCV001487720] |
Chr2:43982245 [GRCh38]
Chr2:44209384 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3486G>A (p.Gln1162=) |
single nucleotide variant |
not provided [RCV001417574] |
Chr2:43901403 [GRCh38]
Chr2:44128542 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.347-4A>C |
single nucleotide variant |
not provided [RCV001441554] |
Chr2:43979952 [GRCh38]
Chr2:44207091 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-18T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002506627]|not provided [RCV001519652] |
Chr2:43975235 [GRCh38]
Chr2:44202374 [GRCh37]
Chr2:2p21 |
benign|likely benign |
| NM_133259.4(LRPPRC):c.2388A>T (p.Ala796=) |
single nucleotide variant |
not provided [RCV001499121] |
Chr2:43943803 [GRCh38]
Chr2:44170942 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.15G>A (p.Leu5=) |
single nucleotide variant |
not provided [RCV001471180] |
Chr2:43995933 [GRCh38]
Chr2:44223072 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity |
| NM_133259.4(LRPPRC):c.2910C>T (p.Asp970=) |
single nucleotide variant |
not provided [RCV001471215] |
Chr2:43918385 [GRCh38]
Chr2:44145524 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-16dup |
duplication |
not provided [RCV001521278] |
Chr2:43934887..43934888 [GRCh38]
Chr2:44162026..44162027 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3024G>A (p.Pro1008=) |
single nucleotide variant |
not provided [RCV001405405] |
Chr2:43918271 [GRCh38]
Chr2:44145410 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1156-6C>T |
single nucleotide variant |
not provided [RCV001492776] |
Chr2:43973906 [GRCh38]
Chr2:44201045 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-4T>G |
single nucleotide variant |
not provided [RCV001471715] |
Chr2:43889880 [GRCh38]
Chr2:44117019 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-9A>T |
single nucleotide variant |
LRPPRC-related disorder [RCV003946230]|not provided [RCV001474240] |
Chr2:43975226 [GRCh38]
Chr2:44202365 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.831T>C (p.Tyr277=) |
single nucleotide variant |
not provided [RCV001506878] |
Chr2:43975124 [GRCh38]
Chr2:44202263 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1602C>T (p.Pro534=) |
single nucleotide variant |
not provided [RCV001442170] |
Chr2:43957432 [GRCh38]
Chr2:44184571 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-8_4129-6del |
deletion |
not provided [RCV001462877] |
Chr2:43888662..43888664 [GRCh38]
Chr2:44115801..44115803 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1383C>T (p.Ile461=) |
single nucleotide variant |
not provided [RCV001475686] |
Chr2:43963693 [GRCh38]
Chr2:44190832 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+9C>T |
single nucleotide variant |
not provided [RCV001463357] |
Chr2:43995790 [GRCh38]
Chr2:44222929 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1869C>T (p.Tyr623=) |
single nucleotide variant |
not provided [RCV001483874] |
Chr2:43948173 [GRCh38]
Chr2:44175312 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2448G>T (p.Gly816=) |
single nucleotide variant |
not provided [RCV001497318] |
Chr2:43943743 [GRCh38]
Chr2:44170882 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2235C>T (p.Val745=) |
single nucleotide variant |
not provided [RCV001403437] |
Chr2:43945393 [GRCh38]
Chr2:44172532 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.888C>T (p.Ser296=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001832565]|not provided [RCV001442382] |
Chr2:43974735 [GRCh38]
Chr2:44201874 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-6T>C |
single nucleotide variant |
not provided [RCV001503470] |
Chr2:43975223 [GRCh38]
Chr2:44202362 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3709+7T>C |
single nucleotide variant |
not provided [RCV001492932] |
Chr2:43899459 [GRCh38]
Chr2:44126598 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2272T>C (p.Leu758=) |
single nucleotide variant |
not provided [RCV001469874] |
Chr2:43945356 [GRCh38]
Chr2:44172495 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.870G>A (p.Leu290=) |
single nucleotide variant |
not provided [RCV001491731] |
Chr2:43974753 [GRCh38]
Chr2:44201892 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2655A>G (p.Gln885=) |
single nucleotide variant |
not provided [RCV001491763] |
Chr2:43934271 [GRCh38]
Chr2:44161410 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.267A>G (p.Arg89=) |
single nucleotide variant |
not provided [RCV001403590] |
Chr2:43982317 [GRCh38]
Chr2:44209456 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3039+8T>C |
single nucleotide variant |
not provided [RCV001398197] |
Chr2:43918248 [GRCh38]
Chr2:44145387 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3820C>T (p.Leu1274=) |
single nucleotide variant |
not provided [RCV001485891] |
Chr2:43899224 [GRCh38]
Chr2:44126363 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.741T>C (p.Asp247=) |
single nucleotide variant |
not provided [RCV001460704] |
Chr2:43975214 [GRCh38]
Chr2:44202353 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-7T>G |
single nucleotide variant |
not provided [RCV001401311] |
Chr2:43976236 [GRCh38]
Chr2:44203375 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.360T>C (p.Gly120=) |
single nucleotide variant |
not provided [RCV001478283] |
Chr2:43979935 [GRCh38]
Chr2:44207074 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2617C>T (p.Leu873=) |
single nucleotide variant |
not provided [RCV001398509] |
Chr2:43934766 [GRCh38]
Chr2:44161905 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1470A>G (p.Ser490=) |
single nucleotide variant |
not provided [RCV001489926] |
Chr2:43963606 [GRCh38]
Chr2:44190745 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-10T>C |
single nucleotide variant |
not provided [RCV001474830] |
Chr2:43934306 [GRCh38]
Chr2:44161445 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.639T>C (p.Ile213=) |
single nucleotide variant |
not provided [RCV001453955] |
Chr2:43977005 [GRCh38]
Chr2:44204144 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2142T>C (p.Tyr714=) |
single nucleotide variant |
not provided [RCV001457118] |
Chr2:43946181 [GRCh38]
Chr2:44173320 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+20T>C |
single nucleotide variant |
not provided [RCV001464502] |
Chr2:43957365 [GRCh38]
Chr2:44184504 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1332A>T (p.Pro444=) |
single nucleotide variant |
not provided [RCV001471213] |
Chr2:43973644 [GRCh38]
Chr2:44200783 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2115T>C (p.Tyr705=) |
single nucleotide variant |
not provided [RCV001453047] |
Chr2:43946208 [GRCh38]
Chr2:44173347 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1554T>C (p.Asn518=) |
single nucleotide variant |
not provided [RCV001478773] |
Chr2:43960569 [GRCh38]
Chr2:44187708 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.417T>C (p.Leu139=) |
single nucleotide variant |
not provided [RCV001438375] |
Chr2:43979878 [GRCh38]
Chr2:44207017 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4071G>A (p.Lys1357=) |
single nucleotide variant |
not provided [RCV001443236] |
Chr2:43889791 [GRCh38]
Chr2:44116930 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-9C>T |
single nucleotide variant |
not provided [RCV001430183] |
Chr2:43973723 [GRCh38]
Chr2:44200862 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.729C>G (p.Ala243=) |
single nucleotide variant |
not provided [RCV001412004] |
Chr2:43976151 [GRCh38]
Chr2:44203290 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2310T>C (p.Ile770=) |
single nucleotide variant |
not provided [RCV001437094] |
Chr2:43943881 [GRCh38]
Chr2:44171020 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.591+1G>T |
single nucleotide variant |
not provided [RCV001378145] |
Chr2:43977154 [GRCh38]
Chr2:44204293 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1983A>G (p.Ser661=) |
single nucleotide variant |
not provided [RCV001443746] |
Chr2:43947353 [GRCh38]
Chr2:44174492 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.75C>T (p.Arg25=) |
single nucleotide variant |
not provided [RCV001435677] |
Chr2:43995873 [GRCh38]
Chr2:44223012 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1156-5C>T |
single nucleotide variant |
not provided [RCV001407007] |
Chr2:43973905 [GRCh38]
Chr2:44201044 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4098T>C (p.Ala1366=) |
single nucleotide variant |
not provided [RCV001409625] |
Chr2:43889764 [GRCh38]
Chr2:44116903 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2097T>G (p.Leu699=) |
single nucleotide variant |
not provided [RCV001412062] |
Chr2:43946226 [GRCh38]
Chr2:44173365 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1833G>A (p.Leu611=) |
single nucleotide variant |
not provided [RCV001404859] |
Chr2:43948421 [GRCh38]
Chr2:44175560 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.81C>T (p.Leu27=) |
single nucleotide variant |
not provided [RCV001434228] |
Chr2:43995867 [GRCh38]
Chr2:44223006 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.45G>A (p.Gly15=) |
single nucleotide variant |
not provided [RCV001430263] |
Chr2:43995903 [GRCh38]
Chr2:44223042 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1866C>T (p.Ile622=) |
single nucleotide variant |
not provided [RCV001448935] |
Chr2:43948176 [GRCh38]
Chr2:44175315 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3303A>T (p.Thr1101=) |
single nucleotide variant |
not provided [RCV001432951] |
Chr2:43905753 [GRCh38]
Chr2:44132892 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2028A>G (p.Gln676=) |
single nucleotide variant |
not provided [RCV001426690] |
Chr2:43947308 [GRCh38]
Chr2:44174447 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.702A>G (p.Val234=) |
single nucleotide variant |
not provided [RCV001410017] |
Chr2:43976178 [GRCh38]
Chr2:44203317 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2847A>T (p.Leu949=) |
single nucleotide variant |
not provided [RCV001402709] |
Chr2:43925116 [GRCh38]
Chr2:44152255 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1092_1095del (p.Glu366fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469654]|not provided [RCV001380889] |
Chr2:43974210..43974213 [GRCh38]
Chr2:44201349..44201352 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3273A>T (p.Ala1091=) |
single nucleotide variant |
not provided [RCV001425074] |
Chr2:43912434 [GRCh38]
Chr2:44139573 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1290G>C (p.Val430=) |
single nucleotide variant |
not provided [RCV001437545] |
Chr2:43973686 [GRCh38]
Chr2:44200825 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3375A>T (p.Thr1125=) |
single nucleotide variant |
not provided [RCV001426753] |
Chr2:43901514 [GRCh38]
Chr2:44128653 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2478C>T (p.Phe826=) |
single nucleotide variant |
not provided [RCV001428567] |
Chr2:43943713 [GRCh38]
Chr2:44170852 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1659T>C (p.Asn553=) |
single nucleotide variant |
not provided [RCV001393311] |
Chr2:43950591 [GRCh38]
Chr2:44177730 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3150G>A (p.Gly1050=) |
single nucleotide variant |
not provided [RCV001398187] |
Chr2:43912557 [GRCh38]
Chr2:44139696 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3813A>G (p.Arg1271=) |
single nucleotide variant |
not provided [RCV001403130] |
Chr2:43899231 [GRCh38]
Chr2:44126370 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.737+9C>A |
single nucleotide variant |
not provided [RCV001437737] |
Chr2:43976134 [GRCh38]
Chr2:44203273 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3626_3627del (p.Lys1209fs) |
deletion |
not provided [RCV001383512] |
Chr2:43899548..43899549 [GRCh38]
Chr2:44126687..44126688 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1092A>G (p.Ser364=) |
single nucleotide variant |
not provided [RCV001408362] |
Chr2:43974213 [GRCh38]
Chr2:44201352 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1635G>T (p.Leu545=) |
single nucleotide variant |
not provided [RCV001438804] |
Chr2:43957399 [GRCh38]
Chr2:44184538 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3303A>G (p.Thr1101=) |
single nucleotide variant |
not provided [RCV001431173] |
Chr2:43905753 [GRCh38]
Chr2:44132892 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.39T>G (p.Arg13=) |
single nucleotide variant |
not provided [RCV001445090] |
Chr2:43995909 [GRCh38]
Chr2:44223048 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3039+21C>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543269]|not provided [RCV001712996] |
Chr2:43918235 [GRCh38]
Chr2:44145374 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2806-110C>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001543271]|not provided [RCV001676040] |
Chr2:43925267 [GRCh38]
Chr2:44152406 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2815C>T (p.Leu939=) |
single nucleotide variant |
not provided [RCV001437887] |
Chr2:43925148 [GRCh38]
Chr2:44152287 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1678-5A>G |
single nucleotide variant |
not provided [RCV001403929] |
Chr2:43949664 [GRCh38]
Chr2:44176803 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-8C>T |
single nucleotide variant |
not provided [RCV001403931] |
Chr2:43974766 [GRCh38]
Chr2:44201905 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.216C>T (p.Ser72=) |
single nucleotide variant |
not provided [RCV001429461] |
Chr2:43982368 [GRCh38]
Chr2:44209507 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.816A>G (p.Ala272=) |
single nucleotide variant |
not provided [RCV001398157] |
Chr2:43975139 [GRCh38]
Chr2:44202278 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.813C>T (p.Leu271=) |
single nucleotide variant |
not provided [RCV001442730] |
Chr2:43975142 [GRCh38]
Chr2:44202281 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3036T>G (p.Pro1012=) |
single nucleotide variant |
not provided [RCV001445173] |
Chr2:43918259 [GRCh38]
Chr2:44145398 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.534A>G (p.Lys178=) |
single nucleotide variant |
not provided [RCV001417811] |
Chr2:43977212 [GRCh38]
Chr2:44204351 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.172C>T (p.Leu58=) |
single nucleotide variant |
not provided [RCV001403976] |
Chr2:43982412 [GRCh38]
Chr2:44209551 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1332A>G (p.Pro444=) |
single nucleotide variant |
not provided [RCV001406261] |
Chr2:43973644 [GRCh38]
Chr2:44200783 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+8del |
deletion |
not provided [RCV001424106] |
Chr2:43934746 [GRCh38]
Chr2:44161885 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1048T>C (p.Leu350=) |
single nucleotide variant |
not provided [RCV001425762] |
Chr2:43974257 [GRCh38]
Chr2:44201396 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.855T>C (p.His285=) |
single nucleotide variant |
not provided [RCV001411177] |
Chr2:43975100 [GRCh38]
Chr2:44202239 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.60C>A (p.Leu20=) |
single nucleotide variant |
not provided [RCV001424098] |
Chr2:43995888 [GRCh38]
Chr2:44223027 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.885G>A (p.Lys295=) |
single nucleotide variant |
not provided [RCV001435093] |
Chr2:43974738 [GRCh38]
Chr2:44201877 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3364+1G>A |
single nucleotide variant |
not provided [RCV001379775] |
Chr2:43905691 [GRCh38]
Chr2:44132830 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2514A>G (p.Leu838=) |
single nucleotide variant |
not provided [RCV001445461] |
Chr2:43934869 [GRCh38]
Chr2:44162008 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2931C>T (p.Val977=) |
single nucleotide variant |
not provided [RCV001411447] |
Chr2:43918364 [GRCh38]
Chr2:44145503 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1086C>T (p.Pro362=) |
single nucleotide variant |
not provided [RCV001429736] |
Chr2:43974219 [GRCh38]
Chr2:44201358 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.207A>G (p.Gln69=) |
single nucleotide variant |
not provided [RCV001448056] |
Chr2:43982377 [GRCh38]
Chr2:44209516 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3798G>A (p.Lys1266=) |
single nucleotide variant |
not provided [RCV001445574] |
Chr2:43899246 [GRCh38]
Chr2:44126385 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-9C>T |
single nucleotide variant |
LRPPRC-related disorder [RCV003920882]|not provided [RCV001402932] |
Chr2:43888665 [GRCh38]
Chr2:44115804 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2955T>C (p.Asn985=) |
single nucleotide variant |
not provided [RCV001408965] |
Chr2:43918340 [GRCh38]
Chr2:44145479 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1431T>G (p.Tyr477Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469728]|not provided [RCV001387077] |
Chr2:43963645 [GRCh38]
Chr2:44190784 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1248C>G (p.Leu416=) |
single nucleotide variant |
not provided [RCV001432174] |
Chr2:43973808 [GRCh38]
Chr2:44200947 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3900+9C>A |
single nucleotide variant |
not provided [RCV001409194] |
Chr2:43896625 [GRCh38]
Chr2:44123764 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3219C>G (p.Leu1073=) |
single nucleotide variant |
not provided [RCV001418236] |
Chr2:43912488 [GRCh38]
Chr2:44139627 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1080A>G (p.Ala360=) |
single nucleotide variant |
not provided [RCV001468234] |
Chr2:43974225 [GRCh38]
Chr2:44201364 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.13C>T (p.Leu5=) |
single nucleotide variant |
not provided [RCV001457155] |
Chr2:43995935 [GRCh38]
Chr2:44223074 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2436C>T (p.Ile812=) |
single nucleotide variant |
not provided [RCV001468670] |
Chr2:43943755 [GRCh38]
Chr2:44170894 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1583-4G>A |
single nucleotide variant |
not provided [RCV001450490] |
Chr2:43957455 [GRCh38]
Chr2:44184594 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-9T>C |
single nucleotide variant |
not provided [RCV001481972] |
Chr2:43974304 [GRCh38]
Chr2:44201443 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2532C>T (p.Val844=) |
single nucleotide variant |
not provided [RCV001495837] |
Chr2:43934851 [GRCh38]
Chr2:44161990 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.600C>T (p.Tyr200=) |
single nucleotide variant |
not provided [RCV001469081] |
Chr2:43977044 [GRCh38]
Chr2:44204183 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.66C>G (p.Leu22=) |
single nucleotide variant |
not provided [RCV001479336] |
Chr2:43995882 [GRCh38]
Chr2:44223021 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3365-206C>T |
single nucleotide variant |
not provided [RCV001611087] |
Chr2:43901730 [GRCh38]
Chr2:44128869 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.732A>G (p.Arg244=) |
single nucleotide variant |
not provided [RCV001462353] |
Chr2:43976148 [GRCh38]
Chr2:44203287 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-7C>G |
single nucleotide variant |
not provided [RCV001466012] |
Chr2:43973721 [GRCh38]
Chr2:44200860 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2805+37G>C |
single nucleotide variant |
not provided [RCV001713371] |
Chr2:43925856 [GRCh38]
Chr2:44152995 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3365-9G>T |
single nucleotide variant |
not provided [RCV001487412] |
Chr2:43901533 [GRCh38]
Chr2:44128672 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3480A>C (p.Val1160=) |
single nucleotide variant |
not provided [RCV001500831] |
Chr2:43901409 [GRCh38]
Chr2:44128548 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.70C>T (p.Leu24=) |
single nucleotide variant |
not provided [RCV001500648] |
Chr2:43995878 [GRCh38]
Chr2:44223017 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+161_2210+164del |
microsatellite |
not provided [RCV001680713] |
Chr2:43945949..43945952 [GRCh38]
Chr2:44173088..44173091 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1831C>T (p.Leu611=) |
single nucleotide variant |
not provided [RCV001453479] |
Chr2:43948423 [GRCh38]
Chr2:44175562 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3504C>T (p.Leu1168=) |
single nucleotide variant |
not provided [RCV001478242] |
Chr2:43901385 [GRCh38]
Chr2:44128524 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3900+10T>C |
single nucleotide variant |
not provided [RCV001481091] |
Chr2:43896624 [GRCh38]
Chr2:44123763 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1583-9C>G |
single nucleotide variant |
not provided [RCV001488553] |
Chr2:43957460 [GRCh38]
Chr2:44184599 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.90C>T (p.Gly30=) |
single nucleotide variant |
not provided [RCV001488626] |
Chr2:43995858 [GRCh38]
Chr2:44222997 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1317T>C (p.Pro439=) |
single nucleotide variant |
not provided [RCV001501526] |
Chr2:43973659 [GRCh38]
Chr2:44200798 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4020G>A (p.Leu1340=) |
single nucleotide variant |
not provided [RCV001464135] |
Chr2:43889842 [GRCh38]
Chr2:44116981 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2331G>A (p.Lys777=) |
single nucleotide variant |
not provided [RCV001485296] |
Chr2:43943860 [GRCh38]
Chr2:44170999 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.861G>A (p.Lys287=) |
single nucleotide variant |
not provided [RCV001489147] |
Chr2:43975094 [GRCh38]
Chr2:44202233 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2896+148T>C |
single nucleotide variant |
not provided [RCV001619080] |
Chr2:43924919 [GRCh38]
Chr2:44152058 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3723G>A (p.Ala1241=) |
single nucleotide variant |
not provided [RCV001498660] |
Chr2:43899321 [GRCh38]
Chr2:44126460 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1359A>G (p.Lys453=) |
single nucleotide variant |
not provided [RCV001501645] |
Chr2:43973617 [GRCh38]
Chr2:44200756 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3855G>A (p.Pro1285=) |
single nucleotide variant |
not provided [RCV001505558] |
Chr2:43896679 [GRCh38]
Chr2:44123818 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4156C>T (p.Leu1386=) |
single nucleotide variant |
not provided [RCV001468215] |
Chr2:43888629 [GRCh38]
Chr2:44115768 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3901-4C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002563321]|not provided [RCV001498541] |
Chr2:43894633 [GRCh38]
Chr2:44121772 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2504+2T>A |
single nucleotide variant |
not provided [RCV001379851] |
Chr2:43943685 [GRCh38]
Chr2:44170824 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1668T>C (p.Leu556=) |
single nucleotide variant |
not provided [RCV001394229] |
Chr2:43950582 [GRCh38]
Chr2:44177721 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3549T>C (p.Ile1183=) |
single nucleotide variant |
not provided [RCV001431181] |
Chr2:43901340 [GRCh38]
Chr2:44128479 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1677+9C>T |
single nucleotide variant |
not provided [RCV001506440] |
Chr2:43950564 [GRCh38]
Chr2:44177703 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3066C>T (p.Ser1022=) |
single nucleotide variant |
not provided [RCV001468944] |
Chr2:43918107 [GRCh38]
Chr2:44145246 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.21C>T (p.Ser7=) |
single nucleotide variant |
not provided [RCV001419167] |
Chr2:43995927 [GRCh38]
Chr2:44223066 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.141C>T (p.Pro47=) |
single nucleotide variant |
not provided [RCV001499947] |
Chr2:43995807 [GRCh38]
Chr2:44222946 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3309C>T (p.Asn1103=) |
single nucleotide variant |
not provided [RCV001399794] |
Chr2:43905747 [GRCh38]
Chr2:44132886 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.552C>T (p.Phe184=) |
single nucleotide variant |
not provided [RCV001504655] |
Chr2:43977194 [GRCh38]
Chr2:44204333 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1062G>A (p.Ala354=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003963284]|not provided [RCV001403275] |
Chr2:43974243 [GRCh38]
Chr2:44201382 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1156-4A>G |
single nucleotide variant |
not provided [RCV001464716] |
Chr2:43973904 [GRCh38]
Chr2:44201043 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.804C>T (p.Asp268=) |
single nucleotide variant |
not provided [RCV001470419] |
Chr2:43975151 [GRCh38]
Chr2:44202290 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1011T>C (p.Asp337=) |
single nucleotide variant |
not provided [RCV001490750] |
Chr2:43974294 [GRCh38]
Chr2:44201433 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.154C>T (p.Leu52=) |
single nucleotide variant |
not provided [RCV001473584] |
Chr2:43982430 [GRCh38]
Chr2:44209569 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3273A>G (p.Ala1091=) |
single nucleotide variant |
not provided [RCV001431616] |
Chr2:43912434 [GRCh38]
Chr2:44139573 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3174A>G (p.Ala1058=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001832591]|not provided [RCV001457075] |
Chr2:43912533 [GRCh38]
Chr2:44139672 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3285C>G (p.Thr1095=) |
single nucleotide variant |
not provided [RCV001482099] |
Chr2:43905771 [GRCh38]
Chr2:44132910 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1650-8C>G |
single nucleotide variant |
not provided [RCV001491533] |
Chr2:43950608 [GRCh38]
Chr2:44177747 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1170A>T (p.Leu390=) |
single nucleotide variant |
not provided [RCV001476058] |
Chr2:43973886 [GRCh38]
Chr2:44201025 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1137C>T (p.His379=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003946196]|not provided [RCV001458798] |
Chr2:43974168 [GRCh38]
Chr2:44201307 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.283C>A (p.Arg95=) |
single nucleotide variant |
not provided [RCV001440226] |
Chr2:43982301 [GRCh38]
Chr2:44209440 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1002T>C (p.Tyr334=) |
single nucleotide variant |
not provided [RCV001483146] |
Chr2:43974621 [GRCh38]
Chr2:44201760 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2607C>G (p.Gly869=) |
single nucleotide variant |
not provided [RCV001484860] |
Chr2:43934776 [GRCh38]
Chr2:44161915 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.111C>T (p.Ala37=) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001832635]|not provided [RCV001486762] |
Chr2:43995837 [GRCh38]
Chr2:44222976 [GRCh37]
Chr2:2p21 |
likely benign|conflicting interpretations of pathogenicity |
| NM_133259.4(LRPPRC):c.2806-9A>T |
single nucleotide variant |
not provided [RCV001471391] |
Chr2:43925166 [GRCh38]
Chr2:44152305 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-8A>C |
single nucleotide variant |
not provided [RCV001471538] |
Chr2:43975225 [GRCh38]
Chr2:44202364 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.633A>C (p.Gly211=) |
single nucleotide variant |
not provided [RCV001453673] |
Chr2:43977011 [GRCh38]
Chr2:44204150 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4051T>C (p.Leu1351=) |
single nucleotide variant |
not provided [RCV001480338] |
Chr2:43889811 [GRCh38]
Chr2:44116950 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3690G>A (p.Leu1230=) |
single nucleotide variant |
not provided [RCV001482455] |
Chr2:43899485 [GRCh38]
Chr2:44126624 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.711C>A (p.Ala237=) |
single nucleotide variant |
not provided [RCV001397805] |
Chr2:43976169 [GRCh38]
Chr2:44203308 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.243T>C (p.Asn81=) |
single nucleotide variant |
not provided [RCV001436445] |
Chr2:43982341 [GRCh38]
Chr2:44209480 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2448G>A (p.Gly816=) |
single nucleotide variant |
not provided [RCV001478952] |
Chr2:43943743 [GRCh38]
Chr2:44170882 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1287T>C (p.Ala429=) |
single nucleotide variant |
not provided [RCV001397751] |
Chr2:43973689 [GRCh38]
Chr2:44200828 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1155+2T>G |
single nucleotide variant |
not provided [RCV001378319] |
Chr2:43974148 [GRCh38]
Chr2:44201287 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1650-6C>T |
single nucleotide variant |
not provided [RCV001436451] |
Chr2:43950606 [GRCh38]
Chr2:44177745 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-11_1966-8del |
deletion |
not provided [RCV001505206] |
Chr2:43947378..43947381 [GRCh38]
Chr2:44174517..44174520 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2604A>G (p.Lys868=) |
single nucleotide variant |
not provided [RCV001452261] |
Chr2:43934779 [GRCh38]
Chr2:44161918 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.204T>C (p.Ile68=) |
single nucleotide variant |
not provided [RCV001461921] |
Chr2:43982380 [GRCh38]
Chr2:44209519 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1155+7T>G |
single nucleotide variant |
not provided [RCV001454770] |
Chr2:43974143 [GRCh38]
Chr2:44201282 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1736-13dup |
duplication |
not provided [RCV001514607] |
Chr2:43948524..43948525 [GRCh38]
Chr2:44175663..44175664 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3709+1G>A |
single nucleotide variant |
not provided [RCV001376762] |
Chr2:43899465 [GRCh38]
Chr2:44126604 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3843T>C (p.Ala1281=) |
single nucleotide variant |
not provided [RCV001436526] |
Chr2:43896691 [GRCh38]
Chr2:44123830 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1731G>A (p.Pro577=) |
single nucleotide variant |
not provided [RCV001434150] |
Chr2:43949606 [GRCh38]
Chr2:44176745 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3024G>T (p.Pro1008=) |
single nucleotide variant |
not provided [RCV001496743] |
Chr2:43918271 [GRCh38]
Chr2:44145410 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.157C>T (p.Leu53=) |
single nucleotide variant |
not provided [RCV001483565] |
Chr2:43982427 [GRCh38]
Chr2:44209566 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1848A>T (p.Val616=) |
single nucleotide variant |
not provided [RCV001418252] |
Chr2:43948194 [GRCh38]
Chr2:44175333 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+9C>G |
single nucleotide variant |
not provided [RCV001441091] |
Chr2:43976985 [GRCh38]
Chr2:44204124 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3981del (p.Tyr1328fs) |
deletion |
not provided [RCV001384093] |
Chr2:43894549 [GRCh38]
Chr2:44121688 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3960A>G (p.Ala1320=) |
single nucleotide variant |
not provided [RCV001435106] |
Chr2:43894570 [GRCh38]
Chr2:44121709 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.657T>A (p.Ile219=) |
single nucleotide variant |
not provided [RCV001485332] |
Chr2:43976223 [GRCh38]
Chr2:44203362 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.354A>G (p.Leu118=) |
single nucleotide variant |
not provided [RCV001435139] |
Chr2:43979941 [GRCh38]
Chr2:44207080 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.555G>C (p.Leu185=) |
single nucleotide variant |
not provided [RCV001393845] |
Chr2:43977191 [GRCh38]
Chr2:44204330 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1224G>A (p.Gln408=) |
single nucleotide variant |
not provided [RCV001504024] |
Chr2:43973832 [GRCh38]
Chr2:44200971 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3149-9C>A |
single nucleotide variant |
not provided [RCV001485444] |
Chr2:43912567 [GRCh38]
Chr2:44139706 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.834T>C (p.Ala278=) |
single nucleotide variant |
not provided [RCV001471757] |
Chr2:43975121 [GRCh38]
Chr2:44202260 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.470-4G>A |
single nucleotide variant |
not provided [RCV001435100] |
Chr2:43977280 [GRCh38]
Chr2:44204419 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-1G>C |
single nucleotide variant |
not provided [RCV001379052] |
Chr2:43889877 [GRCh38]
Chr2:44117016 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3710-9T>C |
single nucleotide variant |
not provided [RCV001441486] |
Chr2:43899343 [GRCh38]
Chr2:44126482 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.936C>T (p.Phe312=) |
single nucleotide variant |
not provided [RCV001495075] |
Chr2:43974687 [GRCh38]
Chr2:44201826 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.783C>T (p.Ala261=) |
single nucleotide variant |
not provided [RCV001468201] |
Chr2:43975172 [GRCh38]
Chr2:44202311 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2778T>C (p.Phe926=) |
single nucleotide variant |
not provided [RCV001468203] |
Chr2:43925920 [GRCh38]
Chr2:44153059 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3118T>C (p.Leu1040=) |
single nucleotide variant |
not provided [RCV001485485] |
Chr2:43918055 [GRCh38]
Chr2:44145194 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.997A>C (p.Arg333=) |
single nucleotide variant |
not provided [RCV001424593] |
Chr2:43974626 [GRCh38]
Chr2:44201765 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3795C>G (p.Gly1265=) |
single nucleotide variant |
not provided [RCV001400823] |
Chr2:43899249 [GRCh38]
Chr2:44126388 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.277_278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCGACCCCAGCCCGCGGCGCCTTCGAGCCTTCTCTTGACGTTGTTTTCAAATAATCATAGTTGCCAGGAAAGAAGCCACTACCCGAGACTAGATCTTT (p.Ser93delinsPhePhePhePhePhePhePheXaaXaaXaaXaaThrAspProSerProArgArgLeuArgAlaPheSerTer) |
insertion |
not provided [RCV001390004] |
Chr2:43982306..43982307 [GRCh38]
Chr2:44209445..44209446 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.9C>T (p.Ala3=) |
single nucleotide variant |
not provided [RCV001477136] |
Chr2:43995939 [GRCh38]
Chr2:44223078 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3339G>C (p.Thr1113=) |
single nucleotide variant |
not provided [RCV001424508] |
Chr2:43905717 [GRCh38]
Chr2:44132856 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2256A>G (p.Val752=) |
single nucleotide variant |
not provided [RCV001426713] |
Chr2:43945372 [GRCh38]
Chr2:44172511 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3816T>C (p.Ala1272=) |
single nucleotide variant |
not provided [RCV001405303] |
Chr2:43899228 [GRCh38]
Chr2:44126367 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1473A>G (p.Ala491=) |
single nucleotide variant |
not provided [RCV001450535] |
Chr2:43963603 [GRCh38]
Chr2:44190742 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser) |
single nucleotide variant |
Leigh syndrome [RCV002273071] |
Chr2:43995827 [GRCh38]
Chr2:44222966 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1301G>C (p.Gly434Ala) |
single nucleotide variant |
not provided [RCV002280395] |
Chr2:43973675 [GRCh38]
Chr2:44200814 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1753C>T (p.Leu585Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004641687]|not provided [RCV001767777] |
Chr2:43948501 [GRCh38]
Chr2:44175640 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3817C>G (p.Leu1273Val) |
single nucleotide variant |
not provided [RCV001767576] |
Chr2:43899227 [GRCh38]
Chr2:44126366 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002489777]|not provided [RCV001767577] |
Chr2:43977231 [GRCh38]
Chr2:44204370 [GRCh37]
Chr2:2p21 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133259.4(LRPPRC):c.3815C>G (p.Ala1272Gly) |
single nucleotide variant |
not provided [RCV001768513] |
Chr2:43899229 [GRCh38]
Chr2:44126368 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4073G>A (p.Arg1358His) |
single nucleotide variant |
Inborn genetic diseases [RCV004040082]|not provided [RCV001758210] |
Chr2:43889789 [GRCh38]
Chr2:44116928 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.605G>C (p.Arg202Thr) |
single nucleotide variant |
not provided [RCV004801671] |
Chr2:43977039 [GRCh38]
Chr2:44204178 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1846G>A (p.Val616Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003264103]|not provided [RCV001806685] |
Chr2:43948196 [GRCh38]
Chr2:44175335 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1678-1G>A |
single nucleotide variant |
LRPPRC-related disorder [RCV004752058]|not provided [RCV001822108] |
Chr2:43949660 [GRCh38]
Chr2:44176799 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NC_000002.11:g.(?_44113362)_(44223129_?)dup |
duplication |
not specified [RCV004800273] |
Chr2:44113362..44223129 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44113362)_(44173383_44174395)dup |
duplication |
not specified [RCV004800803] |
Chr2:44113362..44173383 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1262-1G>C |
single nucleotide variant |
not provided [RCV002001474] |
Chr2:43973715 [GRCh38]
Chr2:44200854 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.340C>G (p.Arg114Gly) |
single nucleotide variant |
not provided [RCV002008412] |
Chr2:43982244 [GRCh38]
Chr2:44209383 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1877T>C (p.Ile626Thr) |
single nucleotide variant |
not provided [RCV001988822] |
Chr2:43948165 [GRCh38]
Chr2:44175304 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1677+1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003464387]|not provided [RCV002040742] |
Chr2:43950572 [GRCh38]
Chr2:44177711 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3415A>G (p.Arg1139Gly) |
single nucleotide variant |
not provided [RCV001948342] |
Chr2:43901474 [GRCh38]
Chr2:44128613 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.68C>T (p.Ser23Phe) |
single nucleotide variant |
not provided [RCV001895341] |
Chr2:43995880 [GRCh38]
Chr2:44223019 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44113362)_(44223145_?)dup |
duplication |
not specified [RCV001844745] |
Chr2:44113362..44223145 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2144C>G (p.Ala715Gly) |
single nucleotide variant |
not provided [RCV001863308] |
Chr2:43946179 [GRCh38]
Chr2:44173318 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1115T>C (p.Phe372Ser) |
single nucleotide variant |
not provided [RCV001872737] |
Chr2:43974190 [GRCh38]
Chr2:44201329 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1582+1G>A |
single nucleotide variant |
not provided [RCV002005648] |
Chr2:43960540 [GRCh38]
Chr2:44187679 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1420C>G (p.Gln474Glu) |
single nucleotide variant |
not provided [RCV001910297] |
Chr2:43963656 [GRCh38]
Chr2:44190795 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44173242)_(44204425_?)dup |
duplication |
not provided [RCV002041367] |
Chr2:44173242..44204425 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.983T>G (p.Val328Gly) |
single nucleotide variant |
not provided [RCV001945747] |
Chr2:43974640 [GRCh38]
Chr2:44201779 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44200736)_(44209583_?)del |
deletion |
not provided [RCV001947027] |
Chr2:44200736..44209583 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3350G>A (p.Arg1117Gln) |
single nucleotide variant |
not specified [RCV001844746] |
Chr2:43905706 [GRCh38]
Chr2:44132845 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2179G>A (p.Val727Ile) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001839141] |
Chr2:43946144 [GRCh38]
Chr2:44173283 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2508C>T (p.Gly836=) |
single nucleotide variant |
not provided [RCV001909130] |
Chr2:43934875 [GRCh38]
Chr2:44162014 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1843-2A>G |
single nucleotide variant |
not provided [RCV002005196] |
Chr2:43948201 [GRCh38]
Chr2:44175340 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2905G>A (p.Gly969Ser) |
single nucleotide variant |
not provided [RCV001913176] |
Chr2:43918390 [GRCh38]
Chr2:44145529 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1431_1432del (p.Thr478fs) |
microsatellite |
not provided [RCV001970109] |
Chr2:43963644..43963645 [GRCh38]
Chr2:44190783..44190784 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2830G>T (p.Glu944Ter) |
single nucleotide variant |
not provided [RCV001983016] |
Chr2:43925133 [GRCh38]
Chr2:44152272 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1249G>A (p.Ala417Thr) |
single nucleotide variant |
not provided [RCV001947479] |
Chr2:43973807 [GRCh38]
Chr2:44200946 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3673G>A (p.Val1225Ile) |
single nucleotide variant |
not provided [RCV001872380] |
Chr2:43899502 [GRCh38]
Chr2:44126641 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2210+16C>G |
single nucleotide variant |
not provided [RCV002007750] |
Chr2:43946097 [GRCh38]
Chr2:44173236 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV001844744]|not provided [RCV002543335] |
Chr2:43943747..43943750 [GRCh38]
Chr2:44170886..44170889 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3187A>G (p.Ile1063Val) |
single nucleotide variant |
not provided [RCV001965573] |
Chr2:43912520 [GRCh38]
Chr2:44139659 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3325C>T (p.Arg1109Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004988893]|not provided [RCV001927928] |
Chr2:43905731 [GRCh38]
Chr2:44132870 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2768T>C (p.Leu923Pro) |
single nucleotide variant |
not provided [RCV001890014] |
Chr2:43925930 [GRCh38]
Chr2:44153069 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3682G>T (p.Glu1228Ter) |
single nucleotide variant |
not provided [RCV001941743] |
Chr2:43899493 [GRCh38]
Chr2:44126632 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3780A>G (p.Gln1260=) |
single nucleotide variant |
not provided [RCV002037020] |
Chr2:43899264 [GRCh38]
Chr2:44126403 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3773dup (p.Leu1259fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003471129]|not provided [RCV001999752] |
Chr2:43899270..43899271 [GRCh38]
Chr2:44126409..44126410 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3271G>A (p.Ala1091Thr) |
single nucleotide variant |
not provided [RCV001903536] |
Chr2:43912436 [GRCh38]
Chr2:44139575 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1842+11G>C |
single nucleotide variant |
not provided [RCV002184926] |
Chr2:43948401 [GRCh38]
Chr2:44175540 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.637A>G (p.Ile213Val) |
single nucleotide variant |
not provided [RCV001944201] |
Chr2:43977007 [GRCh38]
Chr2:44204146 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3334A>G (p.Ile1112Val) |
single nucleotide variant |
not provided [RCV001905563] |
Chr2:43905722 [GRCh38]
Chr2:44132861 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3581A>G (p.Asp1194Gly) |
single nucleotide variant |
not provided [RCV002037143] |
Chr2:43899594 [GRCh38]
Chr2:44126733 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44184514)_(44207097_?)dup |
duplication |
not provided [RCV002029881] |
Chr2:44184514..44207097 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.255G>A (p.Trp85Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004571451]|not provided [RCV001942817] |
Chr2:43982329 [GRCh38]
Chr2:44209468 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.1361del (p.Asn454fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004571721]|not provided [RCV001942034] |
Chr2:43973615 [GRCh38]
Chr2:44200754 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3171T>A (p.Asn1057Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002560454]|not provided [RCV001921527] |
Chr2:43912536 [GRCh38]
Chr2:44139675 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.2369dup (p.His791fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003471171]|not provided [RCV001972377] |
Chr2:43943821..43943822 [GRCh38]
Chr2:44170960..44170961 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2247dup (p.Lys750fs) |
duplication |
not provided [RCV001951581] |
Chr2:43945380..43945381 [GRCh38]
Chr2:44172519..44172520 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44200736)_(44223096_?)del |
deletion |
not provided [RCV001975175] |
Chr2:44200736..44223096 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.628G>A (p.Val210Ile) |
single nucleotide variant |
not provided [RCV002050772] |
Chr2:43977016 [GRCh38]
Chr2:44204155 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.638T>C (p.Ile213Thr) |
single nucleotide variant |
not provided [RCV001995035] |
Chr2:43977006 [GRCh38]
Chr2:44204145 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.592-17G>T |
single nucleotide variant |
not provided [RCV001977404] |
Chr2:43977069 [GRCh38]
Chr2:44204208 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2166T>A (p.Cys722Ter) |
single nucleotide variant |
not provided [RCV001898017] |
Chr2:43946157 [GRCh38]
Chr2:44173296 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44027960)_(44223086_?)dup |
duplication |
not provided [RCV002014505] |
Chr2:44027960..44223086 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44116924)_(44119873_?)del |
deletion |
not provided [RCV002029891] |
Chr2:44116924..44119873 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.725A>G (p.His242Arg) |
single nucleotide variant |
not provided [RCV001930363] |
Chr2:43976155 [GRCh38]
Chr2:44203294 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1649+6A>G |
single nucleotide variant |
not provided [RCV002046164] |
Chr2:43957379 [GRCh38]
Chr2:44184518 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3022_3023del (p.Pro1008fs) |
deletion |
not provided [RCV001866733] |
Chr2:43918272..43918273 [GRCh38]
Chr2:44145411..44145412 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2058_2059del (p.Leu687fs) |
microsatellite |
not provided [RCV001901256] |
Chr2:43947277..43947278 [GRCh38]
Chr2:44174416..44174417 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3597del (p.Asn1199fs) |
deletion |
not provided [RCV001993287] |
Chr2:43899578 [GRCh38]
Chr2:44126717 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1489G>A (p.Glu497Lys) |
single nucleotide variant |
not provided [RCV001922279] |
Chr2:43960634 [GRCh38]
Chr2:44187773 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1154C>T (p.Thr385Met) |
single nucleotide variant |
not provided [RCV001930945] |
Chr2:43974151 [GRCh38]
Chr2:44201290 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3758del (p.Pro1253fs) |
deletion |
not provided [RCV001979940] |
Chr2:43899286 [GRCh38]
Chr2:44126425 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3331A>C (p.Ile1111Leu) |
single nucleotide variant |
not provided [RCV002050661] |
Chr2:43905725 [GRCh38]
Chr2:44132864 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1051G>T (p.Glu351Ter) |
single nucleotide variant |
not provided [RCV001867220] |
Chr2:43974254 [GRCh38]
Chr2:44201393 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.960T>A (p.Tyr320Ter) |
single nucleotide variant |
not provided [RCV001904624] |
Chr2:43974663 [GRCh38]
Chr2:44201802 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3968C>T (p.Ser1323Phe) |
single nucleotide variant |
not provided [RCV001919359] |
Chr2:43894562 [GRCh38]
Chr2:44121701 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3260T>G (p.Met1087Arg) |
single nucleotide variant |
not provided [RCV001937257] |
Chr2:43912447 [GRCh38]
Chr2:44139586 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4050dup (p.Leu1351fs) |
duplication |
not provided [RCV001981336] |
Chr2:43889811..43889812 [GRCh38]
Chr2:44116950..44116951 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.244C>T (p.Gln82Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003464169]|not provided [RCV001866461] |
Chr2:43982340 [GRCh38]
Chr2:44209479 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2325_2326delinsGT (p.Glu776Ter) |
indel |
not provided [RCV001953663] |
Chr2:43943865..43943866 [GRCh38]
Chr2:44171004..44171005 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1511G>C (p.Ser504Thr) |
single nucleotide variant |
not provided [RCV001919832] |
Chr2:43960612 [GRCh38]
Chr2:44187751 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.551del (p.Phe184fs) |
deletion |
not provided [RCV001993232] |
Chr2:43977195 [GRCh38]
Chr2:44204334 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1735+3A>G |
single nucleotide variant |
not provided [RCV001883636]|not specified [RCV004782812] |
Chr2:43949599 [GRCh38]
Chr2:44176738 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2524C>A (p.Leu842Ile) |
single nucleotide variant |
not provided [RCV001884857] |
Chr2:43934859 [GRCh38]
Chr2:44161998 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.35T>C (p.Leu12Pro) |
single nucleotide variant |
not provided [RCV001898927] |
Chr2:43995913 [GRCh38]
Chr2:44223052 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1388A>G (p.Lys463Arg) |
single nucleotide variant |
not provided [RCV002031561] |
Chr2:43963688 [GRCh38]
Chr2:44190827 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2610G>T (p.Glu870Asp) |
single nucleotide variant |
not provided [RCV001883677] |
Chr2:43934773 [GRCh38]
Chr2:44161912 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2167C>T (p.Arg723Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003146299]|not provided [RCV001883456] |
Chr2:43946156 [GRCh38]
Chr2:44173295 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2081A>G (p.Asn694Ser) |
single nucleotide variant |
not provided [RCV002034437] |
Chr2:43946242 [GRCh38]
Chr2:44173381 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44001278)_(45236249_?)dup |
duplication |
not provided [RCV001926231] |
Chr2:44001278..45236249 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2215C>T (p.Arg739Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004641810]|not provided [RCV001938878] |
Chr2:43945413 [GRCh38]
Chr2:44172552 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1676A>G (p.Glu559Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004043747]|not provided [RCV001958391] |
Chr2:43950574 [GRCh38]
Chr2:44177713 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1830G>C (p.Gln610His) |
single nucleotide variant |
Inborn genetic diseases [RCV004042676]|not provided [RCV001935278] |
Chr2:43948424 [GRCh38]
Chr2:44175563 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2379A>G (p.Leu793=) |
single nucleotide variant |
not provided [RCV002089950] |
Chr2:43943812 [GRCh38]
Chr2:44170951 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2163C>T (p.Cys721=) |
single nucleotide variant |
not provided [RCV002087178] |
Chr2:43946160 [GRCh38]
Chr2:44173299 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.10C>T (p.Leu4=) |
single nucleotide variant |
not provided [RCV002185926] |
Chr2:43995938 [GRCh38]
Chr2:44223077 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.72G>A (p.Leu24=) |
single nucleotide variant |
not provided [RCV002085765] |
Chr2:43995876 [GRCh38]
Chr2:44223015 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2808T>G (p.Val936=) |
single nucleotide variant |
not provided [RCV002090092] |
Chr2:43925155 [GRCh38]
Chr2:44152294 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3762C>T (p.Val1254=) |
single nucleotide variant |
not provided [RCV002210483] |
Chr2:43899282 [GRCh38]
Chr2:44126421 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+20T>G |
single nucleotide variant |
not provided [RCV002166880] |
Chr2:43976974 [GRCh38]
Chr2:44204113 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-8C>G |
single nucleotide variant |
not provided [RCV002110269] |
Chr2:43974303 [GRCh38]
Chr2:44201442 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-9C>T |
single nucleotide variant |
not provided [RCV002084745] |
Chr2:43976238 [GRCh38]
Chr2:44203377 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.69C>G (p.Ser23=) |
single nucleotide variant |
not provided [RCV002168231] |
Chr2:43995879 [GRCh38]
Chr2:44223018 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2847A>G (p.Leu949=) |
single nucleotide variant |
not provided [RCV002168594] |
Chr2:43925116 [GRCh38]
Chr2:44152255 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2504+7T>G |
single nucleotide variant |
not provided [RCV002091158] |
Chr2:43943680 [GRCh38]
Chr2:44170819 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.858T>C (p.Val286=) |
single nucleotide variant |
not provided [RCV002125946] |
Chr2:43975097 [GRCh38]
Chr2:44202236 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+9C>T |
single nucleotide variant |
not provided [RCV002192848] |
Chr2:43976985 [GRCh38]
Chr2:44204124 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-14del |
deletion |
not provided [RCV002129595] |
Chr2:43934310 [GRCh38]
Chr2:44161449 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.402G>A (p.Leu134=) |
single nucleotide variant |
not provided [RCV002112660] |
Chr2:43979893 [GRCh38]
Chr2:44207032 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1638A>G (p.Leu546=) |
single nucleotide variant |
not provided [RCV002206440] |
Chr2:43957396 [GRCh38]
Chr2:44184535 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-4T>G |
single nucleotide variant |
not provided [RCV002191759] |
Chr2:43934882 [GRCh38]
Chr2:44162021 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2896+16A>T |
single nucleotide variant |
not provided [RCV002089775] |
Chr2:43925051 [GRCh38]
Chr2:44152190 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.696G>A (p.Glu232=) |
single nucleotide variant |
not provided [RCV002185513] |
Chr2:43976184 [GRCh38]
Chr2:44203323 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-10T>A |
single nucleotide variant |
LRPPRC-related disorder [RCV003978755]|not provided [RCV002147017] |
Chr2:43976239 [GRCh38]
Chr2:44203378 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3906A>T (p.Ser1302=) |
single nucleotide variant |
not provided [RCV002112170] |
Chr2:43894624 [GRCh38]
Chr2:44121763 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2220A>G (p.Leu740=) |
single nucleotide variant |
not provided [RCV002085623] |
Chr2:43945408 [GRCh38]
Chr2:44172547 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1440T>C (p.Tyr480=) |
single nucleotide variant |
not provided [RCV002191198] |
Chr2:43963636 [GRCh38]
Chr2:44190775 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1710T>C (p.Tyr570=) |
single nucleotide variant |
not provided [RCV002189252] |
Chr2:43949627 [GRCh38]
Chr2:44176766 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.286A>C (p.Arg96=) |
single nucleotide variant |
not provided [RCV002084800] |
Chr2:43982298 [GRCh38]
Chr2:44209437 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3229C>T (p.Leu1077=) |
single nucleotide variant |
not provided [RCV002209061] |
Chr2:43912478 [GRCh38]
Chr2:44139617 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2211-14G>A |
single nucleotide variant |
not provided [RCV002106065]|not specified [RCV003987977] |
Chr2:43945431 [GRCh38]
Chr2:44172570 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1735+12A>G |
single nucleotide variant |
not provided [RCV002127505] |
Chr2:43949590 [GRCh38]
Chr2:44176729 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3663A>G (p.Leu1221=) |
single nucleotide variant |
not provided [RCV002089380] |
Chr2:43899512 [GRCh38]
Chr2:44126651 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.258T>C (p.Ala86=) |
single nucleotide variant |
not provided [RCV002167098] |
Chr2:43982326 [GRCh38]
Chr2:44209465 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3597C>T (p.Asn1199=) |
single nucleotide variant |
not provided [RCV002106841] |
Chr2:43899578 [GRCh38]
Chr2:44126717 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2101T>C (p.Leu701=) |
single nucleotide variant |
not provided [RCV002110756] |
Chr2:43946222 [GRCh38]
Chr2:44173361 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-8T>A |
single nucleotide variant |
not provided [RCV002144891] |
Chr2:43889884 [GRCh38]
Chr2:44117023 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1489-4C>G |
single nucleotide variant |
not provided [RCV002165731] |
Chr2:43960638 [GRCh38]
Chr2:44187777 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3696A>G (p.Pro1232=) |
single nucleotide variant |
not provided [RCV002091986] |
Chr2:43899479 [GRCh38]
Chr2:44126618 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2715A>G (p.Lys905=) |
single nucleotide variant |
not provided [RCV002191460] |
Chr2:43934211 [GRCh38]
Chr2:44161350 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.693A>G (p.Thr231=) |
single nucleotide variant |
not provided [RCV002071738] |
Chr2:43976187 [GRCh38]
Chr2:44203326 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1920+8T>C |
single nucleotide variant |
not provided [RCV002208509] |
Chr2:43948114 [GRCh38]
Chr2:44175253 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2289G>A (p.Lys763=) |
single nucleotide variant |
not provided [RCV002152221] |
Chr2:43945339 [GRCh38]
Chr2:44172478 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.592-6T>C |
single nucleotide variant |
not provided [RCV002125838] |
Chr2:43977058 [GRCh38]
Chr2:44204197 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2781T>C (p.Cys927=) |
single nucleotide variant |
not provided [RCV002172539] |
Chr2:43925917 [GRCh38]
Chr2:44153056 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3408C>A (p.Thr1136=) |
single nucleotide variant |
not provided [RCV002153886] |
Chr2:43901481 [GRCh38]
Chr2:44128620 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3792A>T (p.Ala1264=) |
single nucleotide variant |
not provided [RCV002172598] |
Chr2:43899252 [GRCh38]
Chr2:44126391 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1788G>A (p.Glu596=) |
single nucleotide variant |
not provided [RCV002173359] |
Chr2:43948466 [GRCh38]
Chr2:44175605 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1488+10A>T |
single nucleotide variant |
not provided [RCV002174220] |
Chr2:43963578 [GRCh38]
Chr2:44190717 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2694C>T (p.Phe898=) |
single nucleotide variant |
not provided [RCV002077741] |
Chr2:43934232 [GRCh38]
Chr2:44161371 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1980A>G (p.Thr660=) |
single nucleotide variant |
not provided [RCV002076098] |
Chr2:43947356 [GRCh38]
Chr2:44174495 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3312T>C (p.Asp1104=) |
single nucleotide variant |
not provided [RCV002188162] |
Chr2:43905744 [GRCh38]
Chr2:44132883 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2328G>A (p.Glu776=) |
single nucleotide variant |
not provided [RCV002195201] |
Chr2:43943863 [GRCh38]
Chr2:44171002 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.150-8T>C |
single nucleotide variant |
not provided [RCV002153022] |
Chr2:43982442 [GRCh38]
Chr2:44209581 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3709+10T>C |
single nucleotide variant |
not provided [RCV002151610] |
Chr2:43899456 [GRCh38]
Chr2:44126595 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.592-9C>T |
single nucleotide variant |
not provided [RCV002093813] |
Chr2:43977061 [GRCh38]
Chr2:44204200 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2043C>T (p.Val681=) |
single nucleotide variant |
not provided [RCV002213607] |
Chr2:43947293 [GRCh38]
Chr2:44174432 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4038A>G (p.Ala1346=) |
single nucleotide variant |
not provided [RCV002196855] |
Chr2:43889824 [GRCh38]
Chr2:44116963 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3149-5C>T |
single nucleotide variant |
not provided [RCV002076949] |
Chr2:43912563 [GRCh38]
Chr2:44139702 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.963C>T (p.Val321=) |
single nucleotide variant |
not provided [RCV002134606] |
Chr2:43974660 [GRCh38]
Chr2:44201799 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.379C>T (p.Leu127=) |
single nucleotide variant |
not provided [RCV002172602] |
Chr2:43979916 [GRCh38]
Chr2:44207055 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3981C>T (p.Ser1327=) |
single nucleotide variant |
not provided [RCV002134991] |
Chr2:43894549 [GRCh38]
Chr2:44121688 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3171T>C (p.Asn1057=) |
single nucleotide variant |
not provided [RCV002149506] |
Chr2:43912536 [GRCh38]
Chr2:44139675 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3365-7A>G |
single nucleotide variant |
not provided [RCV002133561] |
Chr2:43901531 [GRCh38]
Chr2:44128670 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3180G>A (p.Glu1060=) |
single nucleotide variant |
not provided [RCV002085077] |
Chr2:43912527 [GRCh38]
Chr2:44139666 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3339G>T (p.Thr1113=) |
single nucleotide variant |
not provided [RCV002172113] |
Chr2:43905717 [GRCh38]
Chr2:44132856 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3275+10A>G |
single nucleotide variant |
not provided [RCV002077520] |
Chr2:43912422 [GRCh38]
Chr2:44139561 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3275+8T>C |
single nucleotide variant |
not provided [RCV002077521] |
Chr2:43912424 [GRCh38]
Chr2:44139563 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1809T>C (p.His603=) |
single nucleotide variant |
not provided [RCV002215172] |
Chr2:43948445 [GRCh38]
Chr2:44175584 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+10A>T |
single nucleotide variant |
not provided [RCV002166587] |
Chr2:43974604 [GRCh38]
Chr2:44201743 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.252T>C (p.Asp84=) |
single nucleotide variant |
not provided [RCV002151094] |
Chr2:43982332 [GRCh38]
Chr2:44209471 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1370-4G>C |
single nucleotide variant |
not provided [RCV002197140] |
Chr2:43963710 [GRCh38]
Chr2:44190849 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.99G>A (p.Arg33=) |
single nucleotide variant |
not provided [RCV002093603] |
Chr2:43995849 [GRCh38]
Chr2:44222988 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.705C>T (p.Phe235=) |
single nucleotide variant |
not provided [RCV002170649] |
Chr2:43976175 [GRCh38]
Chr2:44203314 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3985+7T>C |
single nucleotide variant |
not provided [RCV002197168] |
Chr2:43894538 [GRCh38]
Chr2:44121677 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3678A>C (p.Ile1226=) |
single nucleotide variant |
not provided [RCV002197391] |
Chr2:43899497 [GRCh38]
Chr2:44126636 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.630A>G (p.Val210=) |
single nucleotide variant |
not provided [RCV002093771] |
Chr2:43977014 [GRCh38]
Chr2:44204153 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2296+18A>G |
single nucleotide variant |
not provided [RCV002213378] |
Chr2:43945314 [GRCh38]
Chr2:44172453 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3133T>C (p.Leu1045=) |
single nucleotide variant |
not provided [RCV002168560] |
Chr2:43918040 [GRCh38]
Chr2:44145179 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3901-5C>T |
single nucleotide variant |
not provided [RCV002078830] |
Chr2:43894634 [GRCh38]
Chr2:44121773 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.162C>T (p.Ser54=) |
single nucleotide variant |
not provided [RCV002092672] |
Chr2:43982422 [GRCh38]
Chr2:44209561 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1449A>G (p.Pro483=) |
single nucleotide variant |
not provided [RCV002114526] |
Chr2:43963627 [GRCh38]
Chr2:44190766 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.120G>A (p.Leu40=) |
single nucleotide variant |
not provided [RCV002149542] |
Chr2:43995828 [GRCh38]
Chr2:44222967 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.63G>A (p.Pro21=) |
single nucleotide variant |
not provided [RCV002196123] |
Chr2:43995885 [GRCh38]
Chr2:44223024 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.369C>A (p.Ala123=) |
single nucleotide variant |
not provided [RCV002080139] |
Chr2:43979926 [GRCh38]
Chr2:44207065 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3324C>T (p.Ser1108=) |
single nucleotide variant |
not provided [RCV002214040] |
Chr2:43905732 [GRCh38]
Chr2:44132871 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+15A>G |
single nucleotide variant |
not provided [RCV002096150] |
Chr2:43934739 [GRCh38]
Chr2:44161878 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1230C>G (p.Thr410=) |
single nucleotide variant |
not provided [RCV002188727] |
Chr2:43973826 [GRCh38]
Chr2:44200965 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1678-20C>T |
single nucleotide variant |
not provided [RCV002146634] |
Chr2:43949679 [GRCh38]
Chr2:44176818 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3207C>G (p.Thr1069=) |
single nucleotide variant |
not provided [RCV002174317] |
Chr2:43912500 [GRCh38]
Chr2:44139639 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+7C>T |
single nucleotide variant |
not provided [RCV002193153] |
Chr2:43975084 [GRCh38]
Chr2:44202223 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.366T>C (p.His122=) |
single nucleotide variant |
not provided [RCV002148204] |
Chr2:43979929 [GRCh38]
Chr2:44207068 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3348G>A (p.Arg1116=) |
single nucleotide variant |
not provided [RCV002193168] |
Chr2:43905708 [GRCh38]
Chr2:44132847 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4002C>T (p.Val1334=) |
single nucleotide variant |
not provided [RCV002212983] |
Chr2:43889860 [GRCh38]
Chr2:44116999 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1113C>G (p.Val371=) |
single nucleotide variant |
not provided [RCV002114152] |
Chr2:43974192 [GRCh38]
Chr2:44201331 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.470-9C>T |
single nucleotide variant |
not provided [RCV002076648] |
Chr2:43977285 [GRCh38]
Chr2:44204424 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2523T>A (p.Ala841=) |
single nucleotide variant |
not provided [RCV002196961] |
Chr2:43934860 [GRCh38]
Chr2:44161999 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4128+7A>G |
single nucleotide variant |
not provided [RCV002212040] |
Chr2:43889727 [GRCh38]
Chr2:44116866 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2739T>A (p.Thr913=) |
single nucleotide variant |
not provided [RCV002088978] |
Chr2:43925959 [GRCh38]
Chr2:44153098 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3639C>T (p.Pro1213=) |
single nucleotide variant |
not provided [RCV002195010] |
Chr2:43899536 [GRCh38]
Chr2:44126675 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.334A>C (p.Thr112Pro) |
single nucleotide variant |
not provided [RCV002116927] |
Chr2:43982250 [GRCh38]
Chr2:44209389 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3225A>G (p.Lys1075=) |
single nucleotide variant |
not provided [RCV002089155] |
Chr2:43912482 [GRCh38]
Chr2:44139621 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1921-9C>A |
single nucleotide variant |
not provided [RCV002113782] |
Chr2:43947784 [GRCh38]
Chr2:44174923 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2297-16T>C |
single nucleotide variant |
not provided [RCV002157466] |
Chr2:43943910 [GRCh38]
Chr2:44171049 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3901-6T>C |
single nucleotide variant |
Inborn genetic diseases [RCV004982921]|not provided [RCV002121219] |
Chr2:43894635 [GRCh38]
Chr2:44121774 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.2292C>T (p.Leu764=) |
single nucleotide variant |
not provided [RCV002216422] |
Chr2:43945336 [GRCh38]
Chr2:44172475 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1116T>C (p.Phe372=) |
single nucleotide variant |
not provided [RCV002135441] |
Chr2:43974189 [GRCh38]
Chr2:44201328 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.591+10T>A |
single nucleotide variant |
not provided [RCV002117564] |
Chr2:43977145 [GRCh38]
Chr2:44204284 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.477G>T (p.Val159=) |
single nucleotide variant |
not provided [RCV002201379] |
Chr2:43977269 [GRCh38]
Chr2:44204408 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.678G>A (p.Lys226=) |
single nucleotide variant |
not provided [RCV002218481] |
Chr2:43976202 [GRCh38]
Chr2:44203341 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.150-14G>A |
single nucleotide variant |
not provided [RCV002141258] |
Chr2:43982448 [GRCh38]
Chr2:44209587 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3969C>G (p.Ser1323=) |
single nucleotide variant |
not provided [RCV002081884] |
Chr2:43894561 [GRCh38]
Chr2:44121700 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1233C>G (p.Leu411=) |
single nucleotide variant |
not provided [RCV002083843] |
Chr2:43973823 [GRCh38]
Chr2:44200962 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4107T>C (p.Pro1369=) |
single nucleotide variant |
not provided [RCV002203994] |
Chr2:43889755 [GRCh38]
Chr2:44116894 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3570-10C>G |
single nucleotide variant |
not provided [RCV002139494] |
Chr2:43899615 [GRCh38]
Chr2:44126754 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.737+9C>G |
single nucleotide variant |
not provided [RCV002158805] |
Chr2:43976134 [GRCh38]
Chr2:44203273 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+9C>G |
single nucleotide variant |
not provided [RCV002158846] |
Chr2:43934745 [GRCh38]
Chr2:44161884 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-10T>C |
single nucleotide variant |
not provided [RCV002219560] |
Chr2:43976239 [GRCh38]
Chr2:44203378 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2244C>T (p.Thr748=) |
single nucleotide variant |
not provided [RCV002140059] |
Chr2:43945384 [GRCh38]
Chr2:44172523 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1843-17C>T |
single nucleotide variant |
not provided [RCV002199048] |
Chr2:43948216 [GRCh38]
Chr2:44175355 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.792G>A (p.Glu264=) |
single nucleotide variant |
not provided [RCV002178341] |
Chr2:43975163 [GRCh38]
Chr2:44202302 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3414T>C (p.Ser1138=) |
single nucleotide variant |
not provided [RCV002082715] |
Chr2:43901475 [GRCh38]
Chr2:44128614 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3148+10T>A |
single nucleotide variant |
not provided [RCV002200899] |
Chr2:43918015 [GRCh38]
Chr2:44145154 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3090C>A (p.Thr1030=) |
single nucleotide variant |
not provided [RCV002200900] |
Chr2:43918083 [GRCh38]
Chr2:44145222 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+8C>A |
single nucleotide variant |
not provided [RCV002176759] |
Chr2:43995791 [GRCh38]
Chr2:44222930 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2806-18C>G |
single nucleotide variant |
not provided [RCV002199459] |
Chr2:43925175 [GRCh38]
Chr2:44152314 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3816T>G (p.Ala1272=) |
single nucleotide variant |
not provided [RCV002157489] |
Chr2:43899228 [GRCh38]
Chr2:44126367 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.261A>G (p.Leu87=) |
single nucleotide variant |
not provided [RCV002178989] |
Chr2:43982323 [GRCh38]
Chr2:44209462 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-15T>C |
single nucleotide variant |
not provided [RCV002119351] |
Chr2:43973729 [GRCh38]
Chr2:44200868 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.987A>G (p.Thr329=) |
single nucleotide variant |
not provided [RCV002144471] |
Chr2:43974636 [GRCh38]
Chr2:44201775 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4030T>C (p.Leu1344=) |
single nucleotide variant |
not provided [RCV002159866] |
Chr2:43889832 [GRCh38]
Chr2:44116971 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1689G>A (p.Leu563=) |
single nucleotide variant |
not provided [RCV002158020] |
Chr2:43949648 [GRCh38]
Chr2:44176787 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2593C>T (p.Leu865=) |
single nucleotide variant |
not provided [RCV002100238] |
Chr2:43934790 [GRCh38]
Chr2:44161929 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.825T>C (p.Asn275=) |
single nucleotide variant |
not provided [RCV002081708] |
Chr2:43975130 [GRCh38]
Chr2:44202269 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1857T>C (p.Pro619=) |
single nucleotide variant |
not provided [RCV002100288] |
Chr2:43948185 [GRCh38]
Chr2:44175324 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1851A>G (p.Lys617=) |
single nucleotide variant |
not provided [RCV002204080] |
Chr2:43948191 [GRCh38]
Chr2:44175330 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.699A>G (p.Ala233=) |
single nucleotide variant |
not provided [RCV002183329] |
Chr2:43976181 [GRCh38]
Chr2:44203320 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1370-15C>T |
single nucleotide variant |
not provided [RCV002083884] |
Chr2:43963721 [GRCh38]
Chr2:44190860 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2736+8T>A |
single nucleotide variant |
not provided [RCV002081781] |
Chr2:43934182 [GRCh38]
Chr2:44161321 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3585C>A (p.Ala1195=) |
single nucleotide variant |
not provided [RCV002141668] |
Chr2:43899590 [GRCh38]
Chr2:44126729 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3000T>C (p.Leu1000=) |
single nucleotide variant |
not provided [RCV002181739] |
Chr2:43918295 [GRCh38]
Chr2:44145434 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3901-10A>G |
single nucleotide variant |
not provided [RCV002162071] |
Chr2:43894639 [GRCh38]
Chr2:44121778 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2553G>A (p.Lys851=) |
single nucleotide variant |
not provided [RCV002219219] |
Chr2:43934830 [GRCh38]
Chr2:44161969 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-20T>C |
single nucleotide variant |
not provided [RCV002140042] |
Chr2:43934316 [GRCh38]
Chr2:44161455 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1608G>A (p.Ser536=) |
single nucleotide variant |
not provided [RCV002164251] |
Chr2:43957426 [GRCh38]
Chr2:44184565 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.118C>T (p.Leu40=) |
single nucleotide variant |
not provided [RCV002217676] |
Chr2:43995830 [GRCh38]
Chr2:44222969 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3243T>C (p.Asp1081=) |
single nucleotide variant |
not provided [RCV002138525] |
Chr2:43912464 [GRCh38]
Chr2:44139603 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.378A>T (p.Leu126=) |
single nucleotide variant |
not provided [RCV002199301] |
Chr2:43979917 [GRCh38]
Chr2:44207056 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.100C>T (p.Leu34=) |
single nucleotide variant |
not provided [RCV002155932] |
Chr2:43995848 [GRCh38]
Chr2:44222987 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-4C>G |
single nucleotide variant |
not provided [RCV002099914] |
Chr2:43974299 [GRCh38]
Chr2:44201438 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3921G>T (p.Val1307=) |
single nucleotide variant |
not provided [RCV002161226] |
Chr2:43894609 [GRCh38]
Chr2:44121748 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1023C>T (p.Leu341=) |
single nucleotide variant |
not provided [RCV002081558] |
Chr2:43974282 [GRCh38]
Chr2:44201421 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.24G>A (p.Ala8=) |
single nucleotide variant |
not provided [RCV002198110] |
Chr2:43995924 [GRCh38]
Chr2:44223063 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1836G>A (p.Glu612=) |
single nucleotide variant |
not provided [RCV002180814] |
Chr2:43948418 [GRCh38]
Chr2:44175557 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2976A>G (p.Thr992=) |
single nucleotide variant |
not provided [RCV002103588] |
Chr2:43918319 [GRCh38]
Chr2:44145458 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.438T>C (p.Ala146=) |
single nucleotide variant |
not provided [RCV002203365] |
Chr2:43979857 [GRCh38]
Chr2:44206996 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2226A>C (p.Ser742=) |
single nucleotide variant |
not provided [RCV002175882] |
Chr2:43945402 [GRCh38]
Chr2:44172541 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1489-8A>T |
single nucleotide variant |
not provided [RCV002179737] |
Chr2:43960642 [GRCh38]
Chr2:44187781 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3231G>T (p.Leu1077=) |
single nucleotide variant |
not provided [RCV002161700] |
Chr2:43912476 [GRCh38]
Chr2:44139615 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2556T>C (p.Tyr852=) |
single nucleotide variant |
not provided [RCV002219307] |
Chr2:43934827 [GRCh38]
Chr2:44161966 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.720A>G (p.Thr240=) |
single nucleotide variant |
not provided [RCV002181294] |
Chr2:43976160 [GRCh38]
Chr2:44203299 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1818A>G (p.Gln606=) |
single nucleotide variant |
not provided [RCV002120696] |
Chr2:43948436 [GRCh38]
Chr2:44175575 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4068A>G (p.Leu1356=) |
single nucleotide variant |
not provided [RCV002162212] |
Chr2:43889794 [GRCh38]
Chr2:44116933 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1678-8C>T |
single nucleotide variant |
not provided [RCV002180068] |
Chr2:43949667 [GRCh38]
Chr2:44176806 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.378A>G (p.Leu126=) |
single nucleotide variant |
not provided [RCV002176758] |
Chr2:43979917 [GRCh38]
Chr2:44207056 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3642A>G (p.Gln1214=) |
single nucleotide variant |
not provided [RCV002199324] |
Chr2:43899533 [GRCh38]
Chr2:44126672 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2619A>G (p.Leu873=) |
single nucleotide variant |
not provided [RCV002159358] |
Chr2:43934764 [GRCh38]
Chr2:44161903 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3826-4T>C |
single nucleotide variant |
not provided [RCV002137100] |
Chr2:43896712 [GRCh38]
Chr2:44123851 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1023C>G (p.Leu341=) |
single nucleotide variant |
not provided [RCV002216564] |
Chr2:43974282 [GRCh38]
Chr2:44201421 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+13C>A |
single nucleotide variant |
not provided [RCV002216577] |
Chr2:43934741 [GRCh38]
Chr2:44161880 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-8C>T |
single nucleotide variant |
not provided [RCV002156025] |
Chr2:43974303 [GRCh38]
Chr2:44201442 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2297-6T>C |
single nucleotide variant |
not provided [RCV002158026] |
Chr2:43943900 [GRCh38]
Chr2:44171039 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2806-10T>A |
single nucleotide variant |
not provided [RCV002139125] |
Chr2:43925167 [GRCh38]
Chr2:44152306 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-10T>C |
single nucleotide variant |
not provided [RCV002201717] |
Chr2:43889886 [GRCh38]
Chr2:44117025 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3126C>T (p.Ala1042=) |
single nucleotide variant |
not provided [RCV002139561] |
Chr2:43918047 [GRCh38]
Chr2:44145186 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3480A>G (p.Val1160=) |
single nucleotide variant |
not provided [RCV002156067] |
Chr2:43901409 [GRCh38]
Chr2:44128548 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-27_2630-18del |
deletion |
not provided [RCV002081719] |
Chr2:43934314..43934323 [GRCh38]
Chr2:44161453..44161462 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.147C>T (p.Ala49=) |
single nucleotide variant |
not provided [RCV002156628] |
Chr2:43995801 [GRCh38]
Chr2:44222940 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1261+18T>A |
single nucleotide variant |
not provided [RCV002104054] |
Chr2:43973777 [GRCh38]
Chr2:44200916 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-7T>A |
single nucleotide variant |
not provided [RCV002141580] |
Chr2:43888663 [GRCh38]
Chr2:44115802 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4140A>G (p.Glu1380=) |
single nucleotide variant |
not provided [RCV002183822] |
Chr2:43888645 [GRCh38]
Chr2:44115784 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3426G>C (p.Val1142=) |
single nucleotide variant |
not provided [RCV002183940] |
Chr2:43901463 [GRCh38]
Chr2:44128602 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3364+7C>T |
single nucleotide variant |
not provided [RCV002217285] |
Chr2:43905685 [GRCh38]
Chr2:44132824 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1431T>C (p.Tyr477=) |
single nucleotide variant |
not provided [RCV002136381] |
Chr2:43963645 [GRCh38]
Chr2:44190784 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2691C>T (p.Ala897=) |
single nucleotide variant |
not provided [RCV002138393] |
Chr2:43934235 [GRCh38]
Chr2:44161374 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3252A>G (p.Thr1084=) |
single nucleotide variant |
not provided [RCV002202555] |
Chr2:43912455 [GRCh38]
Chr2:44139594 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2583C>T (p.Val861=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003903595]|not provided [RCV002181959] |
Chr2:43934800 [GRCh38]
Chr2:44161939 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-7T>C |
single nucleotide variant |
not provided [RCV002217894] |
Chr2:43899341 [GRCh38]
Chr2:44126480 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.592-16C>T |
single nucleotide variant |
not provided [RCV002182600] |
Chr2:43977068 [GRCh38]
Chr2:44204207 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1990T>C (p.Leu664=) |
single nucleotide variant |
not provided [RCV002161320] |
Chr2:43947346 [GRCh38]
Chr2:44174485 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2667G>A (p.Val889=) |
single nucleotide variant |
not provided [RCV002121333] |
Chr2:43934259 [GRCh38]
Chr2:44161398 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.806C>T (p.Thr269Ile) |
single nucleotide variant |
not provided [RCV004784357] |
Chr2:43975149 [GRCh38]
Chr2:44202288 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44001278)_(44209593_?)dup |
duplication |
Sitosterolemia [RCV003111479]|not provided [RCV003111480] |
Chr2:44001278..44209593 [GRCh37]
Chr2:2p21 |
uncertain significance|no classifications from unflagged records |
| NC_000002.11:g.(?_38121051)_(47710088_?)dup |
duplication |
Hereditary nonpolyposis colorectal neoplasms [RCV003122260] |
Chr2:38121051..47710088 [GRCh37]
Chr2:2p22.2-21 |
uncertain significance |
| NC_000002.11:g.(?_44209367)_(44223096_?)del |
deletion |
not provided [RCV003123040] |
Chr2:44209367..44223096 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44184514)_(44190855_?)del |
deletion |
not provided [RCV003123041] |
Chr2:44184514..44190855 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44184514)_(44187783_?)del |
deletion |
not provided [RCV003123042] |
Chr2:44184514..44187783 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44200726)_(44204435_?)dup |
duplication |
not provided [RCV003123043] |
Chr2:44200726..44204435 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44143180)_(44145434_?)del |
deletion |
not provided [RCV003123044] |
Chr2:44143180..44145434 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2603_2604del (p.Lys868fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004797194] |
Chr2:43934779..43934780 [GRCh38]
Chr2:44161918..44161919 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3854C>G (p.Pro1285Arg) |
single nucleotide variant |
not provided [RCV004790969] |
Chr2:43896680 [GRCh38]
Chr2:44123819 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002300671]|not provided [RCV003101542]|not specified [RCV002271940] |
Chr2:43995941 [GRCh38]
Chr2:44223080 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.124G>A (p.Ala42Thr) |
single nucleotide variant |
not specified [RCV002271941] |
Chr2:43995824 [GRCh38]
Chr2:44222963 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2280_2282delinsAAT (p.His761Ile) |
indel |
not provided [RCV003152152] |
Chr2:43945346..43945348 [GRCh38]
Chr2:44172485..44172487 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2297-8C>A |
single nucleotide variant |
not provided [RCV003231853] |
Chr2:43943902 [GRCh38]
Chr2:44171041 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.76C>T (p.Leu26Phe) |
single nucleotide variant |
not provided [RCV002267441] |
Chr2:43995872 [GRCh38]
Chr2:44223011 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3531G>A (p.Met1177Ile) |
single nucleotide variant |
not provided [RCV002276330] |
Chr2:43901358 [GRCh38]
Chr2:44128497 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.956A>G (p.Gln319Arg) |
single nucleotide variant |
not provided [RCV002291993] |
Chr2:43974667 [GRCh38]
Chr2:44201806 [GRCh37]
Chr2:2p21 |
uncertain significance |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| NM_133259.4(LRPPRC):c.2839C>A (p.Gln947Lys) |
single nucleotide variant |
not provided [RCV002286197] |
Chr2:43925124 [GRCh38]
Chr2:44152263 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.134C>G (p.Ala45Gly) |
single nucleotide variant |
not specified [RCV002266145] |
Chr2:43995814 [GRCh38]
Chr2:44222953 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.140C>G (p.Pro47Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003101643]|not provided [RCV002287163] |
Chr2:43995808 [GRCh38]
Chr2:44222947 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1369+2T>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003230837] |
Chr2:43973605 [GRCh38]
Chr2:44200744 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1936G>T (p.Val646Phe) |
single nucleotide variant |
not provided [RCV002263204] |
Chr2:43947760 [GRCh38]
Chr2:44174899 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.889G>A (p.Glu297Lys) |
single nucleotide variant |
not provided [RCV002290911] |
Chr2:43974734 [GRCh38]
Chr2:44201873 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002283382]|not provided [RCV003698900] |
Chr2:43947364 [GRCh38]
Chr2:44174503 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.847A>C (p.Ile283Leu) |
single nucleotide variant |
not provided [RCV002681800] |
Chr2:43975108 [GRCh38]
Chr2:44202247 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4022A>G (p.Tyr1341Cys) |
single nucleotide variant |
not provided [RCV002304030] |
Chr2:43889840 [GRCh38]
Chr2:44116979 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1557dup (p.Asn520fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002307057] |
Chr2:43960565..43960566 [GRCh38]
Chr2:44187704..44187705 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2941del (p.Ile981fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002307291] |
Chr2:43918354 [GRCh38]
Chr2:44145493 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3787del (p.Asp1263fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002307300] |
Chr2:43899257 [GRCh38]
Chr2:44126396 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3353A>G (p.Asp1118Gly) |
single nucleotide variant |
not provided [RCV002304390] |
Chr2:43905703 [GRCh38]
Chr2:44132842 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.516T>A (p.Tyr172Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308162] |
Chr2:43977230 [GRCh38]
Chr2:44204369 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2889del (p.Lys963fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308166] |
Chr2:43925074 [GRCh38]
Chr2:44152213 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.376_377insAAATTATTTTTTGAATACG (p.Leu126delinsGlnIleIlePheTer) |
insertion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309035] |
Chr2:43979918..43979919 [GRCh38]
Chr2:44207057..44207058 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3541A>G (p.Asn1181Asp) |
single nucleotide variant |
not provided [RCV002306391] |
Chr2:43901348 [GRCh38]
Chr2:44128487 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3248_3249del (p.Phe1083fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309268] |
Chr2:43912458..43912459 [GRCh38]
Chr2:44139597..44139598 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1947_1948del (p.Asn650fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309603] |
Chr2:43947748..43947749 [GRCh38]
Chr2:44174887..44174888 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1165A>T (p.Lys389Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309400] |
Chr2:43973891 [GRCh38]
Chr2:44201030 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3227T>A (p.Leu1076Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308248] |
Chr2:43912480 [GRCh38]
Chr2:44139619 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3778_3780delinsT (p.Gln1260fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306466] |
Chr2:43899264..43899266 [GRCh38]
Chr2:44126403..44126405 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3465_3466delinsA (p.Glu1156fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308418] |
Chr2:43901423..43901424 [GRCh38]
Chr2:44128562..44128563 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2444del (p.Leu815fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310045] |
Chr2:43943747 [GRCh38]
Chr2:44170886 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.186_193delinsAAAA (p.Ala63fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310297] |
Chr2:43982391..43982398 [GRCh38]
Chr2:44209530..44209537 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.509_510insGATGTGTATAAGAGAC (p.Val171fs) |
insertion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310385] |
Chr2:43977236..43977237 [GRCh38]
Chr2:44204375..44204376 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.508A>T (p.Lys170Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310389] |
Chr2:43977238 [GRCh38]
Chr2:44204377 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.811del (p.Leu271fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310308] |
Chr2:43975144 [GRCh38]
Chr2:44202283 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3697_3701delinsCAAG (p.Ala1233fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310504] |
Chr2:43899474..43899478 [GRCh38]
Chr2:44126613..44126617 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1931T>A (p.Leu644Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308049] |
Chr2:43947765 [GRCh38]
Chr2:44174904 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1179C>A (p.Tyr393Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306614] |
Chr2:43973877 [GRCh38]
Chr2:44201016 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2632dup (p.Met878fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309729] |
Chr2:43934293..43934294 [GRCh38]
Chr2:44161432..44161433 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3957del (p.Ala1320fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309734] |
Chr2:43894573 [GRCh38]
Chr2:44121712 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2086C>T (p.Gln696Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310097] |
Chr2:43946237 [GRCh38]
Chr2:44173376 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2246_2247insTATAAGAGACAGT (p.Lys750fs) |
insertion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310159] |
Chr2:43945381..43945382 [GRCh38]
Chr2:44172520..44172521 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.93_94delinsAGCA (p.Gly32fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310169] |
Chr2:43995854..43995855 [GRCh38]
Chr2:44222993..44222994 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1378G>T (p.Glu460Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310444] |
Chr2:43963698 [GRCh38]
Chr2:44190837 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1493_1495delinsTTGT (p.Asn498fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310493] |
Chr2:43960628..43960630 [GRCh38]
Chr2:44187767..44187769 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2488_2489del (p.Thr830fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310585] |
Chr2:43943702..43943703 [GRCh38]
Chr2:44170841..44170842 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.92del (p.Pro31fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306943] |
Chr2:43995856 [GRCh38]
Chr2:44222995 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.503T>A (p.Leu168Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002307136] |
Chr2:43977243 [GRCh38]
Chr2:44204382 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.898_899delinsAGATGTGTATAAGAGACAG (p.Leu300delinsArgCysValTer) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002307156] |
Chr2:43974724..43974725 [GRCh38]
Chr2:44201863..44201864 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1517_1518insAAAA (p.Met506fs) |
insertion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309085]|not provided [RCV003099153] |
Chr2:43960605..43960606 [GRCh38]
Chr2:44187744..44187745 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3261_3262del (p.Met1087fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306764] |
Chr2:43912445..43912446 [GRCh38]
Chr2:44139584..44139585 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3156T>A (p.Tyr1052Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306775] |
Chr2:43912551 [GRCh38]
Chr2:44139690 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2343del (p.Asp783fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308306] |
Chr2:43943848 [GRCh38]
Chr2:44170987 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1574T>G (p.Leu525Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306903] |
Chr2:43960549 [GRCh38]
Chr2:44187688 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.149+1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002302587] |
Chr2:43995798 [GRCh38]
Chr2:44222937 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.31_32insATAAGAGACAG (p.Leu11fs) |
insertion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306950] |
Chr2:43995916..43995917 [GRCh38]
Chr2:44223055..44223056 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1082_1083delinsT (p.Cys361fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306972] |
Chr2:43974222..43974223 [GRCh38]
Chr2:44201361..44201362 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3778_3779del (p.Gln1260fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309498] |
Chr2:43899265..43899266 [GRCh38]
Chr2:44126404..44126405 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.532A>T (p.Lys178Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309562] |
Chr2:43977214 [GRCh38]
Chr2:44204353 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.392del (p.Gly131fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309569] |
Chr2:43979903 [GRCh38]
Chr2:44207042 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3013del (p.Gln1005fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002307968] |
Chr2:43918282 [GRCh38]
Chr2:44145421 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.151G>T (p.Gly51Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308025] |
Chr2:43982433 [GRCh38]
Chr2:44209572 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1115_1118delinsCTT (p.Phe372fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002309782] |
Chr2:43974187..43974190 [GRCh38]
Chr2:44201326..44201329 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.883A>T (p.Lys295Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310503] |
Chr2:43974740 [GRCh38]
Chr2:44201879 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.531T>A (p.Tyr177Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308153] |
Chr2:43977215 [GRCh38]
Chr2:44204354 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.54_57delinsTCG (p.Leu20fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310149] |
Chr2:43995891..43995894 [GRCh38]
Chr2:44223030..44223033 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2406_2407del (p.Glu803fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310377] |
Chr2:43943784..43943785 [GRCh38]
Chr2:44170923..44170924 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.406_407del (p.Glu136fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002310480] |
Chr2:43979888..43979889 [GRCh38]
Chr2:44207027..44207028 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3313dup (p.Ala1105fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306853] |
Chr2:43905742..43905743 [GRCh38]
Chr2:44132881..44132882 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1277T>A (p.Leu426Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002308442] |
Chr2:43973699 [GRCh38]
Chr2:44200838 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3691G>T (p.Glu1231Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002306991] |
Chr2:43899484 [GRCh38]
Chr2:44126623 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3774_3775insTCGTATGCCGT (p.Leu1259fs) |
insertion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002307036] |
Chr2:43899269..43899270 [GRCh38]
Chr2:44126408..44126409 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2119dup (p.Ser707fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV002307073] |
Chr2:43946203..43946204 [GRCh38]
Chr2:44173342..44173343 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1678-6T>A |
single nucleotide variant |
not provided [RCV002815815] |
Chr2:43949665 [GRCh38]
Chr2:44176804 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1846G>C (p.Val616Leu) |
single nucleotide variant |
not provided [RCV002991362] |
Chr2:43948196 [GRCh38]
Chr2:44175335 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3012C>T (p.Asn1004=) |
single nucleotide variant |
not provided [RCV002775356] |
Chr2:43918283 [GRCh38]
Chr2:44145422 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.156A>G (p.Leu52=) |
single nucleotide variant |
not provided [RCV002731629] |
Chr2:43982428 [GRCh38]
Chr2:44209567 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.299_346+35delinsCTG |
indel |
not provided [RCV002815392] |
Chr2:43982203..43982285 [GRCh38]
Chr2:44209342..44209424 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2210+8C>G |
single nucleotide variant |
not provided [RCV002904666] |
Chr2:43946105 [GRCh38]
Chr2:44173244 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.737+8T>C |
single nucleotide variant |
not provided [RCV002837676] |
Chr2:43976135 [GRCh38]
Chr2:44203274 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2217C>T (p.Arg739=) |
single nucleotide variant |
not provided [RCV003012524] |
Chr2:43945411 [GRCh38]
Chr2:44172550 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2617C>A (p.Leu873Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002841794]|not provided [RCV004820280] |
Chr2:43934766 [GRCh38]
Chr2:44161905 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3712A>G (p.Ser1238Gly) |
single nucleotide variant |
not provided [RCV003074546] |
Chr2:43899332 [GRCh38]
Chr2:44126471 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3561A>G (p.Gln1187=) |
single nucleotide variant |
not provided [RCV002681526] |
Chr2:43901328 [GRCh38]
Chr2:44128467 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2496C>T (p.His832=) |
single nucleotide variant |
not provided [RCV002838072] |
Chr2:43943695 [GRCh38]
Chr2:44170834 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+7C>G |
single nucleotide variant |
not provided [RCV002862807] |
Chr2:43975084 [GRCh38]
Chr2:44202223 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.785G>A (p.Gly262Glu) |
single nucleotide variant |
not provided [RCV002618041] |
Chr2:43975170 [GRCh38]
Chr2:44202309 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4011T>C (p.Ala1337=) |
single nucleotide variant |
not provided [RCV002726583] |
Chr2:43889851 [GRCh38]
Chr2:44116990 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3365-4T>G |
single nucleotide variant |
not provided [RCV002756593] |
Chr2:43901528 [GRCh38]
Chr2:44128667 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.317A>G (p.Gln106Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002734079]|not provided [RCV004593203] |
Chr2:43982267 [GRCh38]
Chr2:44209406 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3861G>A (p.Leu1287=) |
single nucleotide variant |
not provided [RCV002862597] |
Chr2:43896673 [GRCh38]
Chr2:44123812 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1053A>G (p.Glu351=) |
single nucleotide variant |
not provided [RCV002995023] |
Chr2:43974252 [GRCh38]
Chr2:44201391 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3405G>A (p.Gln1135=) |
single nucleotide variant |
not provided [RCV002881475] |
Chr2:43901484 [GRCh38]
Chr2:44128623 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2892G>A (p.Leu964=) |
single nucleotide variant |
not provided [RCV002908085] |
Chr2:43925071 [GRCh38]
Chr2:44152210 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.759C>T (p.Asn253=) |
single nucleotide variant |
not provided [RCV002903913] |
Chr2:43975196 [GRCh38]
Chr2:44202335 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2753C>T (p.Ala918Val) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003135273]|Inborn genetic diseases [RCV002753597] |
Chr2:43925945 [GRCh38]
Chr2:44153084 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.117T>C (p.Tyr39=) |
single nucleotide variant |
not provided [RCV002862731] |
Chr2:43995831 [GRCh38]
Chr2:44222970 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-12dup |
duplication |
not provided [RCV003074573] |
Chr2:43888667..43888668 [GRCh38]
Chr2:44115806..44115807 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.4089G>C (p.Leu1363=) |
single nucleotide variant |
not provided [RCV002862774] |
Chr2:43889773 [GRCh38]
Chr2:44116912 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1677+1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005028121]|not provided [RCV003033734] |
Chr2:43950572 [GRCh38]
Chr2:44177711 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1843-10C>G |
single nucleotide variant |
not provided [RCV002751573] |
Chr2:43948209 [GRCh38]
Chr2:44175348 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1924G>A (p.Ala642Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002907155] |
Chr2:43947772 [GRCh38]
Chr2:44174911 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2989G>A (p.Ala997Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003171056]|not provided [RCV003074373] |
Chr2:43918306 [GRCh38]
Chr2:44145445 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1200C>T (p.Val400=) |
single nucleotide variant |
not provided [RCV003013733] |
Chr2:43973856 [GRCh38]
Chr2:44200995 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.139C>A (p.Pro47Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002773673] |
Chr2:43995809 [GRCh38]
Chr2:44222948 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1336_1343del (p.Leu446fs) |
deletion |
not provided [RCV003033185] |
Chr2:43973633..43973640 [GRCh38]
Chr2:44200772..44200779 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3044G>A (p.Trp1015Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003465853]|not provided [RCV002880396] |
Chr2:43918129 [GRCh38]
Chr2:44145268 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3477A>G (p.Glu1159=) |
single nucleotide variant |
not provided [RCV002617939] |
Chr2:43901412 [GRCh38]
Chr2:44128551 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.801A>G (p.Pro267=) |
single nucleotide variant |
not provided [RCV002842777] |
Chr2:43975154 [GRCh38]
Chr2:44202293 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2186A>G (p.Asp729Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002990116] |
Chr2:43946137 [GRCh38]
Chr2:44173276 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2839_2840dup (p.Gln947fs) |
microsatellite |
not provided [RCV002815262] |
Chr2:43925122..43925123 [GRCh38]
Chr2:44152261..44152262 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3989C>G (p.Ser1330Ter) |
single nucleotide variant |
not provided [RCV002618323] |
Chr2:43889873 [GRCh38]
Chr2:44117012 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3945T>C (p.Asn1315=) |
single nucleotide variant |
not provided [RCV003013155] |
Chr2:43894585 [GRCh38]
Chr2:44121724 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1650-8C>T |
single nucleotide variant |
not provided [RCV003013864] |
Chr2:43950608 [GRCh38]
Chr2:44177747 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3279G>A (p.Ala1093=) |
single nucleotide variant |
not provided [RCV002615401] |
Chr2:43905777 [GRCh38]
Chr2:44132916 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.222T>G (p.Phe74Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004065268]|not provided [RCV002979644] |
Chr2:43982362 [GRCh38]
Chr2:44209501 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1474C>T (p.Arg492Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002703911]|not provided [RCV003738347] |
Chr2:43963602 [GRCh38]
Chr2:44190741 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.4110C>A (p.Val1370=) |
single nucleotide variant |
not provided [RCV002800464] |
Chr2:43889752 [GRCh38]
Chr2:44116891 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1698G>A (p.Lys566=) |
single nucleotide variant |
not provided [RCV002663143] |
Chr2:43949639 [GRCh38]
Chr2:44176778 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2949A>G (p.Glu983=) |
single nucleotide variant |
not provided [RCV002637885] |
Chr2:43918346 [GRCh38]
Chr2:44145485 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-10CT[2] |
microsatellite |
not provided [RCV002695629] |
Chr2:43974763..43974764 [GRCh38]
Chr2:44201902..44201903 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.840G>A (p.Lys280=) |
single nucleotide variant |
not provided [RCV003039364] |
Chr2:43975115 [GRCh38]
Chr2:44202254 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1449A>T (p.Pro483=) |
single nucleotide variant |
not provided [RCV002871288] |
Chr2:43963627 [GRCh38]
Chr2:44190766 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1500T>C (p.Cys500=) |
single nucleotide variant |
not provided [RCV002913323] |
Chr2:43960623 [GRCh38]
Chr2:44187762 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.228T>C (p.Ser76=) |
single nucleotide variant |
not provided [RCV002740317] |
Chr2:43982356 [GRCh38]
Chr2:44209495 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2154A>T (p.Ile718=) |
single nucleotide variant |
not provided [RCV003035958] |
Chr2:43946169 [GRCh38]
Chr2:44173308 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2490T>G (p.Thr830=) |
single nucleotide variant |
not provided [RCV002663104] |
Chr2:43943701 [GRCh38]
Chr2:44170840 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1659_1663dup (p.Asn555delinsIleTer) |
duplication |
not provided [RCV002953788] |
Chr2:43950586..43950587 [GRCh38]
Chr2:44177725..44177726 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2944C>T (p.Gln982Ter) |
single nucleotide variant |
not provided [RCV002825136] |
Chr2:43918351 [GRCh38]
Chr2:44145490 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2897-6C>T |
single nucleotide variant |
not provided [RCV003039173] |
Chr2:43918404 [GRCh38]
Chr2:44145543 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2311C>T (p.Leu771=) |
single nucleotide variant |
not provided [RCV002696048] |
Chr2:43943880 [GRCh38]
Chr2:44171019 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2912_2913insAT (p.Trp971Ter) |
insertion |
not provided [RCV002825469] |
Chr2:43918382..43918383 [GRCh38]
Chr2:44145521..44145522 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.864+14C>A |
single nucleotide variant |
not provided [RCV002847680] |
Chr2:43975077 [GRCh38]
Chr2:44202216 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.328A>G (p.Asn110Asp) |
single nucleotide variant |
not provided [RCV003003158] |
Chr2:43982256 [GRCh38]
Chr2:44209395 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3027T>C (p.Phe1009=) |
single nucleotide variant |
not provided [RCV003037712] |
Chr2:43918268 [GRCh38]
Chr2:44145407 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-6T>C |
single nucleotide variant |
not provided [RCV002825317] |
Chr2:43888662 [GRCh38]
Chr2:44115801 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2396G>C (p.Arg799Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002844258] |
Chr2:43943795 [GRCh38]
Chr2:44170934 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1697A>G (p.Lys566Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002692443]|not provided [RCV004765706] |
Chr2:43949640 [GRCh38]
Chr2:44176779 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3340C>T (p.Gln1114Ter) |
single nucleotide variant |
not provided [RCV002867045] |
Chr2:43905716 [GRCh38]
Chr2:44132855 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2973G>A (p.Lys991=) |
single nucleotide variant |
not provided [RCV003018965] |
Chr2:43918322 [GRCh38]
Chr2:44145461 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4133G>A (p.Ser1378Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002844788] |
Chr2:43888652 [GRCh38]
Chr2:44115791 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.234G>C (p.Lys78Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002797515] |
Chr2:43982350 [GRCh38]
Chr2:44209489 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3797A>G (p.Lys1266Arg) |
single nucleotide variant |
not provided [RCV002619405] |
Chr2:43899247 [GRCh38]
Chr2:44126386 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1529C>A (p.Ala510Asp) |
single nucleotide variant |
not provided [RCV002820662] |
Chr2:43960594 [GRCh38]
Chr2:44187733 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.987A>T (p.Thr329=) |
single nucleotide variant |
not provided [RCV003036510] |
Chr2:43974636 [GRCh38]
Chr2:44201775 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2004T>G (p.Leu668=) |
single nucleotide variant |
not provided [RCV002590912] |
Chr2:43947332 [GRCh38]
Chr2:44174471 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3663dup (p.Phe1222fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004572523]|not provided [RCV003020444] |
Chr2:43899511..43899512 [GRCh38]
Chr2:44126650..44126651 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3951G>A (p.Lys1317=) |
single nucleotide variant |
not provided [RCV003038024] |
Chr2:43894579 [GRCh38]
Chr2:44121718 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1842+1G>T |
single nucleotide variant |
not provided [RCV002866195] |
Chr2:43948411 [GRCh38]
Chr2:44175550 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1009+7T>G |
single nucleotide variant |
not provided [RCV002886526] |
Chr2:43974607 [GRCh38]
Chr2:44201746 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1349G>C (p.Arg450Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002692496] |
Chr2:43973627 [GRCh38]
Chr2:44200766 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3040-10T>A |
single nucleotide variant |
not provided [RCV003038507] |
Chr2:43918143 [GRCh38]
Chr2:44145282 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1678-4C>A |
single nucleotide variant |
not provided [RCV002736571] |
Chr2:43949663 [GRCh38]
Chr2:44176802 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-2A>G |
single nucleotide variant |
not provided [RCV002979541] |
Chr2:43974760 [GRCh38]
Chr2:44201899 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1156C>A (p.Pro386Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003367970]|not provided [RCV003053358] |
Chr2:43973900 [GRCh38]
Chr2:44201039 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.261A>T (p.Leu87=) |
single nucleotide variant |
not provided [RCV002885459] |
Chr2:43982323 [GRCh38]
Chr2:44209462 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3309C>G (p.Asn1103Lys) |
single nucleotide variant |
not provided [RCV002952548] |
Chr2:43905747 [GRCh38]
Chr2:44132886 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.30G>A (p.Trp10Ter) |
single nucleotide variant |
not provided [RCV002847486] |
Chr2:43995918 [GRCh38]
Chr2:44223057 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.621T>C (p.Tyr207=) |
single nucleotide variant |
not provided [RCV002912802] |
Chr2:43977023 [GRCh38]
Chr2:44204162 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2046_2047insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGATGTCCTA (p.Lys683fs) |
insertion |
not provided [RCV002889203] |
Chr2:43947289..43947290 [GRCh38]
Chr2:44174428..44174429 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1582+11A>G |
single nucleotide variant |
not provided [RCV002638141] |
Chr2:43960530 [GRCh38]
Chr2:44187669 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3039+7G>A |
single nucleotide variant |
not provided [RCV003017891] |
Chr2:43918249 [GRCh38]
Chr2:44145388 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3777T>C (p.Leu1259=) |
single nucleotide variant |
not provided [RCV002824463] |
Chr2:43899267 [GRCh38]
Chr2:44126406 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2512C>T (p.Leu838=) |
single nucleotide variant |
not provided [RCV002590882] |
Chr2:43934871 [GRCh38]
Chr2:44162010 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2464_2465del (p.Thr822fs) |
deletion |
not provided [RCV002912457] |
Chr2:43943726..43943727 [GRCh38]
Chr2:44170865..44170866 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2028A>C (p.Gln676His) |
single nucleotide variant |
Inborn genetic diseases [RCV002692439] |
Chr2:43947308 [GRCh38]
Chr2:44174447 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2211-10T>C |
single nucleotide variant |
LRPPRC-related disorder [RCV003943505]|not provided [RCV002781227] |
Chr2:43945427 [GRCh38]
Chr2:44172566 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2395A>C (p.Arg799=) |
single nucleotide variant |
not provided [RCV003000168] |
Chr2:43943796 [GRCh38]
Chr2:44170935 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+8T>C |
single nucleotide variant |
not provided [RCV002797077] |
Chr2:43974606 [GRCh38]
Chr2:44201745 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.346+7C>G |
single nucleotide variant |
not provided [RCV002640038] |
Chr2:43982231 [GRCh38]
Chr2:44209370 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1736-7T>G |
single nucleotide variant |
LRPPRC-related disorder [RCV003936464]|not provided [RCV002949427] |
Chr2:43948525 [GRCh38]
Chr2:44175664 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+9C>G |
single nucleotide variant |
not provided [RCV002847226] |
Chr2:43946104 [GRCh38]
Chr2:44173243 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1261+7C>T |
single nucleotide variant |
not provided [RCV002823926] |
Chr2:43973788 [GRCh38]
Chr2:44200927 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-13G>T |
single nucleotide variant |
not provided [RCV003053090] |
Chr2:43974308 [GRCh38]
Chr2:44201447 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1965+2T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003464615]|not provided [RCV002871026] |
Chr2:43947729 [GRCh38]
Chr2:44174868 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2907T>G (p.Gly969=) |
single nucleotide variant |
not provided [RCV002622715] |
Chr2:43918388 [GRCh38]
Chr2:44145527 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.592-2A>T |
single nucleotide variant |
not provided [RCV002847750] |
Chr2:43977054 [GRCh38]
Chr2:44204193 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3876T>C (p.Leu1292=) |
single nucleotide variant |
not provided [RCV002948971] |
Chr2:43896658 [GRCh38]
Chr2:44123797 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1582+19C>T |
single nucleotide variant |
not provided [RCV003077842] |
Chr2:43960522 [GRCh38]
Chr2:44187661 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4050A>G (p.Lys1350=) |
single nucleotide variant |
not provided [RCV002975694] |
Chr2:43889812 [GRCh38]
Chr2:44116951 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-10T>G |
single nucleotide variant |
not provided [RCV003079783] |
Chr2:43934306 [GRCh38]
Chr2:44161445 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1475G>A (p.Arg492Gln) |
single nucleotide variant |
not provided [RCV002690687] |
Chr2:43963601 [GRCh38]
Chr2:44190740 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2084del (p.Met695fs) |
deletion |
not provided [RCV002871831] |
Chr2:43946239 [GRCh38]
Chr2:44173378 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.50C>T (p.Ala17Val) |
single nucleotide variant |
not provided [RCV003058722] |
Chr2:43995898 [GRCh38]
Chr2:44223037 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2297-7A>C |
single nucleotide variant |
not provided [RCV002805245] |
Chr2:43943901 [GRCh38]
Chr2:44171040 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1370-16A>G |
single nucleotide variant |
not provided [RCV003085987] |
Chr2:43963722 [GRCh38]
Chr2:44190861 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3912G>A (p.Val1304=) |
single nucleotide variant |
not provided [RCV002871985] |
Chr2:43894618 [GRCh38]
Chr2:44121757 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1730_1735+1del |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005027965]|not provided [RCV002805899] |
Chr2:43949601..43949607 [GRCh38]
Chr2:44176740..44176746 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1362T>C (p.Asn454=) |
single nucleotide variant |
not provided [RCV002711395] |
Chr2:43973614 [GRCh38]
Chr2:44200753 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1370-4_1370-3dup |
duplication |
not provided [RCV003058788] |
Chr2:43963708..43963709 [GRCh38]
Chr2:44190847..44190848 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3183A>G (p.Gln1061=) |
single nucleotide variant |
not provided [RCV002712096] |
Chr2:43912524 [GRCh38]
Chr2:44139663 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2415A>C (p.Val805=) |
single nucleotide variant |
not provided [RCV002700966] |
Chr2:43943776 [GRCh38]
Chr2:44170915 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.189C>T (p.Ala63=) |
single nucleotide variant |
not provided [RCV002597297] |
Chr2:43982395 [GRCh38]
Chr2:44209534 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.200A>G (p.Asp67Gly) |
single nucleotide variant |
not provided [RCV002596447] |
Chr2:43982384 [GRCh38]
Chr2:44209523 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.347-14C>G |
single nucleotide variant |
not provided [RCV003083885] |
Chr2:43979962 [GRCh38]
Chr2:44207101 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1966-6C>T |
single nucleotide variant |
not provided [RCV002875868] |
Chr2:43947376 [GRCh38]
Chr2:44174515 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2027A>G (p.Gln676Arg) |
single nucleotide variant |
not provided [RCV002829260] |
Chr2:43947309 [GRCh38]
Chr2:44174448 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2619A>C (p.Leu873=) |
single nucleotide variant |
not provided [RCV002851771] |
Chr2:43934764 [GRCh38]
Chr2:44161903 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.660T>C (p.Leu220=) |
single nucleotide variant |
not provided [RCV002710789] |
Chr2:43976220 [GRCh38]
Chr2:44203359 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-16C>T |
single nucleotide variant |
not provided [RCV002574560] |
Chr2:43976245 [GRCh38]
Chr2:44203384 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1536G>A (p.Leu512=) |
single nucleotide variant |
not provided [RCV002625710] |
Chr2:43960587 [GRCh38]
Chr2:44187726 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.148G>A (p.Gly50Arg) |
single nucleotide variant |
not provided [RCV002623416] |
Chr2:43995800 [GRCh38]
Chr2:44222939 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2630-32_2630-11del |
deletion |
not provided [RCV002572839] |
Chr2:43934307..43934328 [GRCh38]
Chr2:44161446..44161467 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3577A>G (p.Ile1193Val) |
single nucleotide variant |
not provided [RCV002741610] |
Chr2:43899598 [GRCh38]
Chr2:44126737 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2629+8A>C |
single nucleotide variant |
not provided [RCV002801699] |
Chr2:43934746 [GRCh38]
Chr2:44161885 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1369+1G>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005027925]|not provided [RCV002710694] |
Chr2:43973606 [GRCh38]
Chr2:44200745 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1370G>C (p.Gly457Ala) |
single nucleotide variant |
not provided [RCV002700480] |
Chr2:43963706 [GRCh38]
Chr2:44190845 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1557G>C (p.Gly519=) |
single nucleotide variant |
not provided [RCV002928365] |
Chr2:43960566 [GRCh38]
Chr2:44187705 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3617C>T (p.Ser1206Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002915001]|not provided [RCV002915000] |
Chr2:43899558 [GRCh38]
Chr2:44126697 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.2736+10dup |
duplication |
not provided [RCV003041286] |
Chr2:43934179..43934180 [GRCh38]
Chr2:44161318..44161319 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.165A>T (p.Pro55=) |
single nucleotide variant |
not provided [RCV002985299] |
Chr2:43982419 [GRCh38]
Chr2:44209558 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1156-9_1156-8del |
deletion |
not provided [RCV002982948] |
Chr2:43973908..43973909 [GRCh38]
Chr2:44201047..44201048 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1834G>A (p.Glu612Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004636645]|not provided [RCV003083674] |
Chr2:43948420 [GRCh38]
Chr2:44175559 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1617T>C (p.Ser539=) |
single nucleotide variant |
not provided [RCV002917901] |
Chr2:43957417 [GRCh38]
Chr2:44184556 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.54G>A (p.Pro18=) |
single nucleotide variant |
not provided [RCV003057347] |
Chr2:43995894 [GRCh38]
Chr2:44223033 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1217C>T (p.Pro406Leu) |
single nucleotide variant |
not provided [RCV003084160] |
Chr2:43973839 [GRCh38]
Chr2:44200978 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3138C>T (p.Asn1046=) |
single nucleotide variant |
not provided [RCV002828432] |
Chr2:43918035 [GRCh38]
Chr2:44145174 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-7T>G |
single nucleotide variant |
not provided [RCV002625705] |
Chr2:43888663 [GRCh38]
Chr2:44115802 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3854C>T (p.Pro1285Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004985160]|not provided [RCV003085599] |
Chr2:43896680 [GRCh38]
Chr2:44123819 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3935C>T (p.Pro1312Leu) |
single nucleotide variant |
not provided [RCV003081946] |
Chr2:43894595 [GRCh38]
Chr2:44121734 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1956C>T (p.Asp652=) |
single nucleotide variant |
not provided [RCV002643203] |
Chr2:43947740 [GRCh38]
Chr2:44174879 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2785A>C (p.Arg929=) |
single nucleotide variant |
not provided [RCV002851370] |
Chr2:43925913 [GRCh38]
Chr2:44153052 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.46dup (p.Ala16fs) |
duplication |
not provided [RCV002851572] |
Chr2:43995901..43995902 [GRCh38]
Chr2:44223040..44223041 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1685A>G (p.Glu562Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003083525]|not provided [RCV003071971] |
Chr2:43949652 [GRCh38]
Chr2:44176791 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.149+16C>G |
single nucleotide variant |
not provided [RCV003083997] |
Chr2:43995783 [GRCh38]
Chr2:44222922 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.123del (p.Ala42fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005028250]|not provided [RCV002595523] |
Chr2:43995825 [GRCh38]
Chr2:44222964 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.1358A>T (p.Lys453Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002787794] |
Chr2:43973618 [GRCh38]
Chr2:44200757 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2475T>G (p.Ser825Arg) |
single nucleotide variant |
not provided [RCV002932938] |
Chr2:43943716 [GRCh38]
Chr2:44170855 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2010A>G (p.Thr670=) |
single nucleotide variant |
not provided [RCV002745661] |
Chr2:43947326 [GRCh38]
Chr2:44174465 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1093A>G (p.Lys365Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002744183] |
Chr2:43974212 [GRCh38]
Chr2:44201351 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3253C>T (p.Gln1085Ter) |
single nucleotide variant |
not provided [RCV002701012] |
Chr2:43912454 [GRCh38]
Chr2:44139593 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1274C>T (p.Ala425Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002803311] |
Chr2:43973702 [GRCh38]
Chr2:44200841 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3090C>T (p.Thr1030=) |
single nucleotide variant |
not provided [RCV002893904] |
Chr2:43918083 [GRCh38]
Chr2:44145222 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1922A>T (p.Asp641Val) |
single nucleotide variant |
not provided [RCV002985417] |
Chr2:43947774 [GRCh38]
Chr2:44174913 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.38G>C (p.Arg13Pro) |
single nucleotide variant |
not provided [RCV003055936] |
Chr2:43995910 [GRCh38]
Chr2:44223049 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3321C>T (p.Asn1107=) |
single nucleotide variant |
not provided [RCV002871834] |
Chr2:43905735 [GRCh38]
Chr2:44132874 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.921A>G (p.Gln307=) |
single nucleotide variant |
not provided [RCV002852440] |
Chr2:43974702 [GRCh38]
Chr2:44201841 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.451G>C (p.Asp151His) |
single nucleotide variant |
not provided [RCV002642724] |
Chr2:43979844 [GRCh38]
Chr2:44206983 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.372_375del (p.Leu124fs) |
deletion |
not provided [RCV003056279] |
Chr2:43979920..43979923 [GRCh38]
Chr2:44207059..44207062 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1652C>T (p.Ser551Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004983278]|not provided [RCV003043148] |
Chr2:43950598 [GRCh38]
Chr2:44177737 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2202A>G (p.Lys734=) |
single nucleotide variant |
not provided [RCV002851139] |
Chr2:43946121 [GRCh38]
Chr2:44173260 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+7C>T |
single nucleotide variant |
not provided [RCV002766312] |
Chr2:43934747 [GRCh38]
Chr2:44161886 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3033A>G (p.Val1011=) |
single nucleotide variant |
not provided [RCV002715374] |
Chr2:43918262 [GRCh38]
Chr2:44145401 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.123C>T (p.Pro41=) |
single nucleotide variant |
not provided [RCV002835378] |
Chr2:43995825 [GRCh38]
Chr2:44222964 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.613G>A (p.Ala205Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003090686]|not provided [RCV003090685] |
Chr2:43977031 [GRCh38]
Chr2:44204170 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1211C>G (p.Ser404Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002935247] |
Chr2:43973845 [GRCh38]
Chr2:44200984 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2282A>G (p.His761Arg) |
single nucleotide variant |
not provided [RCV002627617] |
Chr2:43945346 [GRCh38]
Chr2:44172485 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1607C>T (p.Ser536Leu) |
single nucleotide variant |
not provided [RCV002599274] |
Chr2:43957427 [GRCh38]
Chr2:44184566 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3651C>G (p.Gly1217=) |
single nucleotide variant |
not provided [RCV003066060] |
Chr2:43899524 [GRCh38]
Chr2:44126663 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1515T>C (p.Asp505=) |
single nucleotide variant |
not provided [RCV002632116] |
Chr2:43960608 [GRCh38]
Chr2:44187747 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3643_3644insG (p.Tyr1215Ter) |
insertion |
not provided [RCV003048411] |
Chr2:43899531..43899532 [GRCh38]
Chr2:44126670..44126671 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3624T>A (p.Asn1208Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003308393]|not provided [RCV002988432] |
Chr2:43899551 [GRCh38]
Chr2:44126690 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3390A>G (p.Val1130=) |
single nucleotide variant |
not provided [RCV002900368] |
Chr2:43901499 [GRCh38]
Chr2:44128638 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1275C>G (p.Ala425=) |
single nucleotide variant |
not provided [RCV003065754] |
Chr2:43973701 [GRCh38]
Chr2:44200840 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4111C>T (p.Pro1371Ser) |
single nucleotide variant |
not provided [RCV002633059] |
Chr2:43889751 [GRCh38]
Chr2:44116890 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.87C>T (p.Gly29=) |
single nucleotide variant |
not provided [RCV002599467] |
Chr2:43995861 [GRCh38]
Chr2:44223000 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2513T>C (p.Leu838Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004071910]|not provided [RCV003086048] |
Chr2:43934870 [GRCh38]
Chr2:44162009 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.3369T>C (p.Ala1123=) |
single nucleotide variant |
not provided [RCV002630559] |
Chr2:43901520 [GRCh38]
Chr2:44128659 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.78C>T (p.Leu26=) |
single nucleotide variant |
not provided [RCV002805963] |
Chr2:43995870 [GRCh38]
Chr2:44223009 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2862A>G (p.Arg954=) |
single nucleotide variant |
not provided [RCV002627466] |
Chr2:43925101 [GRCh38]
Chr2:44152240 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3826-9A>G |
single nucleotide variant |
not provided [RCV003009350] |
Chr2:43896717 [GRCh38]
Chr2:44123856 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3844G>T (p.Glu1282Ter) |
single nucleotide variant |
not provided [RCV003011237] |
Chr2:43896690 [GRCh38]
Chr2:44123829 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3636A>G (p.Glu1212=) |
single nucleotide variant |
not provided [RCV003045677] |
Chr2:43899539 [GRCh38]
Chr2:44126678 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.62C>G (p.Pro21Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002959249]|not provided [RCV002959248] |
Chr2:43995886 [GRCh38]
Chr2:44223025 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.470-13A>C |
single nucleotide variant |
not provided [RCV002647125] |
Chr2:43977289 [GRCh38]
Chr2:44204428 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2101T>A (p.Leu701Met) |
single nucleotide variant |
not provided [RCV003063465] |
Chr2:43946222 [GRCh38]
Chr2:44173361 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2157T>C (p.Asn719=) |
single nucleotide variant |
not provided [RCV003027151] |
Chr2:43946166 [GRCh38]
Chr2:44173305 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-9del |
deletion |
not provided [RCV002599129] |
Chr2:43974304 [GRCh38]
Chr2:44201443 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2739T>G (p.Thr913=) |
single nucleotide variant |
not provided [RCV002648111] |
Chr2:43925959 [GRCh38]
Chr2:44153098 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1926T>C (p.Ala642=) |
single nucleotide variant |
not provided [RCV002833373] |
Chr2:43947770 [GRCh38]
Chr2:44174909 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.315A>G (p.Leu105=) |
single nucleotide variant |
not provided [RCV002716789] |
Chr2:43982269 [GRCh38]
Chr2:44209408 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1848A>G (p.Val616=) |
single nucleotide variant |
not provided [RCV003029282] |
Chr2:43948194 [GRCh38]
Chr2:44175333 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2756G>A (p.Arg919Gln) |
single nucleotide variant |
not provided [RCV002599985] |
Chr2:43925942 [GRCh38]
Chr2:44153081 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3605A>G (p.Asn1202Ser) |
single nucleotide variant |
not provided [RCV003088231] |
Chr2:43899570 [GRCh38]
Chr2:44126709 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.153A>G (p.Gly51=) |
single nucleotide variant |
not provided [RCV002988589] |
Chr2:43982431 [GRCh38]
Chr2:44209570 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4112C>G (p.Pro1371Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002935334] |
Chr2:43889750 [GRCh38]
Chr2:44116889 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3737_3740del (p.Asn1246fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003465866]|not provided [RCV002922901] |
Chr2:43899304..43899307 [GRCh38]
Chr2:44126443..44126446 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2013A>G (p.Leu671=) |
single nucleotide variant |
not provided [RCV002597913] |
Chr2:43947323 [GRCh38]
Chr2:44174462 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1466A>G (p.Asn489Ser) |
single nucleotide variant |
not provided [RCV002834526] |
Chr2:43963610 [GRCh38]
Chr2:44190749 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.231del (p.Lys78fs) |
deletion |
not provided [RCV003047506] |
Chr2:43982353 [GRCh38]
Chr2:44209492 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1010-15T>C |
single nucleotide variant |
not provided [RCV003090116] |
Chr2:43974310 [GRCh38]
Chr2:44201449 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3320A>G (p.Asn1107Ser) |
single nucleotide variant |
not provided [RCV003060851] |
Chr2:43905736 [GRCh38]
Chr2:44132875 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1966-28TTTTTCTTTTCT[3] |
microsatellite |
not provided [RCV003027641] |
Chr2:43947374..43947375 [GRCh38]
Chr2:44174513..44174514 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1712G>C (p.Cys571Ser) |
single nucleotide variant |
not provided [RCV003009413] |
Chr2:43949625 [GRCh38]
Chr2:44176764 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3149-7C>G |
single nucleotide variant |
not provided [RCV002900583] |
Chr2:43912565 [GRCh38]
Chr2:44139704 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.456A>G (p.Thr152=) |
single nucleotide variant |
not provided [RCV003048487] |
Chr2:43979839 [GRCh38]
Chr2:44206978 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1300G>T (p.Gly434Cys) |
single nucleotide variant |
not provided [RCV003091166] |
Chr2:43973676 [GRCh38]
Chr2:44200815 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3210C>T (p.Tyr1070=) |
single nucleotide variant |
not provided [RCV002746807] |
Chr2:43912497 [GRCh38]
Chr2:44139636 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3047A>G (p.Tyr1016Cys) |
single nucleotide variant |
not provided [RCV002629911] |
Chr2:43918126 [GRCh38]
Chr2:44145265 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3147del (p.Ala1051fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005025925]|not provided [RCV002649940] |
Chr2:43918026 [GRCh38]
Chr2:44145165 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.1660A>G (p.Ile554Val) |
single nucleotide variant |
not provided [RCV002647889] |
Chr2:43950590 [GRCh38]
Chr2:44177729 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.864+8T>C |
single nucleotide variant |
not provided [RCV002672195] |
Chr2:43975083 [GRCh38]
Chr2:44202222 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3408C>G (p.Thr1136=) |
single nucleotide variant |
not provided [RCV003089957] |
Chr2:43901481 [GRCh38]
Chr2:44128620 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2995del (p.Ile999fs) |
deletion |
not provided [RCV003044419] |
Chr2:43918300 [GRCh38]
Chr2:44145439 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3435C>T (p.Val1145=) |
single nucleotide variant |
not provided [RCV003026964] |
Chr2:43901454 [GRCh38]
Chr2:44128593 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3276C>T (p.Phe1092=) |
single nucleotide variant |
not provided [RCV002630007] |
Chr2:43905780 [GRCh38]
Chr2:44132919 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2351C>G (p.Thr784Arg) |
single nucleotide variant |
not provided [RCV002899913] |
Chr2:43943840 [GRCh38]
Chr2:44170979 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1009G>A (p.Asp337Asn) |
single nucleotide variant |
not provided [RCV002578599] |
Chr2:43974614 [GRCh38]
Chr2:44201753 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1843-7C>G |
single nucleotide variant |
not provided [RCV002900217] |
Chr2:43948206 [GRCh38]
Chr2:44175345 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3699A>G (p.Ala1233=) |
single nucleotide variant |
not provided [RCV002597980] |
Chr2:43899476 [GRCh38]
Chr2:44126615 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.486G>A (p.Val162=) |
single nucleotide variant |
not provided [RCV003009833] |
Chr2:43977260 [GRCh38]
Chr2:44204399 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-3C>T |
single nucleotide variant |
not provided [RCV002806139] |
Chr2:43974298 [GRCh38]
Chr2:44201437 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2080-9G>C |
single nucleotide variant |
not provided [RCV002630197] |
Chr2:43946252 [GRCh38]
Chr2:44173391 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.405T>G (p.Pro135=) |
single nucleotide variant |
not provided [RCV002835081] |
Chr2:43979890 [GRCh38]
Chr2:44207029 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-10dup |
duplication |
not provided [RCV002937699] |
Chr2:43976238..43976239 [GRCh38]
Chr2:44203377..44203378 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3002G>A (p.Arg1001Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002702861] |
Chr2:43918293 [GRCh38]
Chr2:44145432 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.864+11T>C |
single nucleotide variant |
not provided [RCV003060769] |
Chr2:43975080 [GRCh38]
Chr2:44202219 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2080-18A>G |
single nucleotide variant |
not provided [RCV002647844] |
Chr2:43946261 [GRCh38]
Chr2:44173400 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1903G>T (p.Val635Phe) |
single nucleotide variant |
not provided [RCV002937281] |
Chr2:43948139 [GRCh38]
Chr2:44175278 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1523C>G (p.Ser508Cys) |
single nucleotide variant |
not provided [RCV002629888] |
Chr2:43960600 [GRCh38]
Chr2:44187739 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.663A>T (p.Gly221=) |
single nucleotide variant |
not provided [RCV002791921] |
Chr2:43976217 [GRCh38]
Chr2:44203356 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.36G>A (p.Leu12=) |
single nucleotide variant |
not provided [RCV002578103] |
Chr2:43995912 [GRCh38]
Chr2:44223051 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2944C>G (p.Gln982Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002719444] |
Chr2:43918351 [GRCh38]
Chr2:44145490 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.697G>A (p.Ala233Thr) |
single nucleotide variant |
not provided [RCV002670767] |
Chr2:43976183 [GRCh38]
Chr2:44203322 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1349G>A (p.Arg450Gln) |
single nucleotide variant |
not provided [RCV002651664] |
Chr2:43973627 [GRCh38]
Chr2:44200766 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.810C>G (p.Tyr270Ter) |
single nucleotide variant |
not provided [RCV003049060] |
Chr2:43975145 [GRCh38]
Chr2:44202284 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2283T>C (p.His761=) |
single nucleotide variant |
not provided [RCV002716324] |
Chr2:43945345 [GRCh38]
Chr2:44172484 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.737+5T>C |
single nucleotide variant |
not provided [RCV003008940] |
Chr2:43976138 [GRCh38]
Chr2:44203277 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2132C>G (p.Thr711Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002896815] |
Chr2:43946191 [GRCh38]
Chr2:44173330 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3431G>A (p.Arg1144His) |
single nucleotide variant |
Inborn genetic diseases [RCV002629265]|not provided [RCV002629266] |
Chr2:43901458 [GRCh38]
Chr2:44128597 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2233G>A (p.Val745Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002966908]|not provided [RCV002966907] |
Chr2:43945395 [GRCh38]
Chr2:44172534 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.37del (p.Arg13fs) |
deletion |
not provided [RCV003031502] |
Chr2:43995911 [GRCh38]
Chr2:44223050 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2295A>C (p.Gln765His) |
single nucleotide variant |
Inborn genetic diseases [RCV002678383] |
Chr2:43945333 [GRCh38]
Chr2:44172472 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.169A>C (p.Arg57=) |
single nucleotide variant |
not provided [RCV002680980] |
Chr2:43982415 [GRCh38]
Chr2:44209554 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1735+5C>T |
single nucleotide variant |
not provided [RCV003092370] |
Chr2:43949597 [GRCh38]
Chr2:44176736 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1370-18C>T |
single nucleotide variant |
not provided [RCV003067951] |
Chr2:43963724 [GRCh38]
Chr2:44190863 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3993G>A (p.Glu1331=) |
single nucleotide variant |
not provided [RCV002584993] |
Chr2:43889869 [GRCh38]
Chr2:44117008 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2607C>A (p.Gly869=) |
single nucleotide variant |
not provided [RCV002657811] |
Chr2:43934776 [GRCh38]
Chr2:44161915 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3570-4A>T |
single nucleotide variant |
not provided [RCV002815146] |
Chr2:43899609 [GRCh38]
Chr2:44126748 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2160A>T (p.Leu720Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002722763] |
Chr2:43946163 [GRCh38]
Chr2:44173302 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.52C>T (p.Pro18Ser) |
single nucleotide variant |
not provided [RCV002633767] |
Chr2:43995896 [GRCh38]
Chr2:44223035 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.150-9A>G |
single nucleotide variant |
not provided [RCV002657827] |
Chr2:43982443 [GRCh38]
Chr2:44209582 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1450T>C (p.Cys484Arg) |
single nucleotide variant |
not provided [RCV003068219] |
Chr2:43963626 [GRCh38]
Chr2:44190765 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.233A>G (p.Lys78Arg) |
single nucleotide variant |
not provided [RCV002584759] |
Chr2:43982351 [GRCh38]
Chr2:44209490 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3149-19dup |
duplication |
not provided [RCV003067484] |
Chr2:43912576..43912577 [GRCh38]
Chr2:44139715..44139716 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3735C>T (p.Ala1245=) |
single nucleotide variant |
not provided [RCV002609280] |
Chr2:43899309 [GRCh38]
Chr2:44126448 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3093A>G (p.Thr1031=) |
single nucleotide variant |
not provided [RCV002681054] |
Chr2:43918080 [GRCh38]
Chr2:44145219 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3438C>A (p.Ile1146=) |
single nucleotide variant |
not provided [RCV002653546] |
Chr2:43901451 [GRCh38]
Chr2:44128590 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4146T>C (p.Tyr1382=) |
single nucleotide variant |
not provided [RCV003052385] |
Chr2:43888639 [GRCh38]
Chr2:44115778 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1582+12A>C |
single nucleotide variant |
not provided [RCV003071774] |
Chr2:43960529 [GRCh38]
Chr2:44187668 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2789G>A (p.Cys930Tyr) |
single nucleotide variant |
not provided [RCV002589484] |
Chr2:43925909 [GRCh38]
Chr2:44153048 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4017A>C (p.Ala1339=) |
single nucleotide variant |
not provided [RCV002589923] |
Chr2:43889845 [GRCh38]
Chr2:44116984 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3148+15G>T |
single nucleotide variant |
not provided [RCV002658225] |
Chr2:43918010 [GRCh38]
Chr2:44145149 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3129C>T (p.Cys1043=) |
single nucleotide variant |
not provided [RCV002612862] |
Chr2:43918044 [GRCh38]
Chr2:44145183 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2079+6A>G |
single nucleotide variant |
not provided [RCV002633781] |
Chr2:43947251 [GRCh38]
Chr2:44174390 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3802G>A (p.Asp1268Asn) |
single nucleotide variant |
not provided [RCV002611286] |
Chr2:43899242 [GRCh38]
Chr2:44126381 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1735+17G>T |
single nucleotide variant |
not provided [RCV003066793] |
Chr2:43949585 [GRCh38]
Chr2:44176724 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2296+16T>G |
single nucleotide variant |
not provided [RCV002654536] |
Chr2:43945316 [GRCh38]
Chr2:44172455 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.411A>G (p.Leu137=) |
single nucleotide variant |
not provided [RCV002658158] |
Chr2:43979884 [GRCh38]
Chr2:44207023 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3235T>A (p.Ser1079Thr) |
single nucleotide variant |
not provided [RCV003067308] |
Chr2:43912472 [GRCh38]
Chr2:44139611 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1748A>G (p.Tyr583Cys) |
single nucleotide variant |
not provided [RCV003070728] |
Chr2:43948506 [GRCh38]
Chr2:44175645 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3714C>G (p.Ser1238Arg) |
single nucleotide variant |
not provided [RCV002610436] |
Chr2:43899330 [GRCh38]
Chr2:44126469 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4128+6T>C |
single nucleotide variant |
not provided [RCV003071113] |
Chr2:43889728 [GRCh38]
Chr2:44116867 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1649+4A>C |
single nucleotide variant |
not specified [RCV003155730] |
Chr2:43957381 [GRCh38]
Chr2:44184520 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1649+3A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003131509]|LRPPRC-related disorder [RCV003906656] |
Chr2:43957382 [GRCh38]
Chr2:44184521 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1456G>A (p.Asp486Asn) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003131508] |
Chr2:43963620 [GRCh38]
Chr2:44190759 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2263G>A (p.Val755Ile) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003131510] |
Chr2:43945365 [GRCh38]
Chr2:44172504 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2960T>C (p.Ile987Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003257583] |
Chr2:43918335 [GRCh38]
Chr2:44145474 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2882T>C (p.Leu961Pro) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003225667] |
Chr2:43925081 [GRCh38]
Chr2:44152220 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.749A>G (p.Asn250Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003175098] |
Chr2:43975206 [GRCh38]
Chr2:44202345 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.12:g.43986415_44009956del |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003225668] |
Chr2:43986415..44009956 [GRCh38]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1216C>T (p.Pro406Ser) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003134107] |
Chr2:43973840 [GRCh38]
Chr2:44200979 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2557A>G (p.Lys853Glu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003134108] |
Chr2:43934826 [GRCh38]
Chr2:44161965 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.319A>G (p.Lys107Glu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003134109] |
Chr2:43982265 [GRCh38]
Chr2:44209404 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.567G>C (p.Glu189Asp) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003134110] |
Chr2:43977179 [GRCh38]
Chr2:44204318 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1087G>A (p.Val363Ile) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003134112]|Inborn genetic diseases [RCV004634233] |
Chr2:43974218 [GRCh38]
Chr2:44201357 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.43G>T (p.Gly15Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003174980] |
Chr2:43995905 [GRCh38]
Chr2:44223044 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.205C>G (p.Gln69Glu) |
single nucleotide variant |
not provided [RCV003325092] |
Chr2:43982379 [GRCh38]
Chr2:44209518 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1501C>G (p.Leu501Val) |
single nucleotide variant |
not provided [RCV003329573] |
Chr2:43960622 [GRCh38]
Chr2:44187761 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.12:g.43996149G>A |
single nucleotide variant |
not provided [RCV003334221] |
Chr2:43996149 [GRCh38]
Chr2:44223288 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1627A>G (p.Ser543Gly) |
single nucleotide variant |
not specified [RCV003332020] |
Chr2:43957407 [GRCh38]
Chr2:44184546 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2651A>T (p.Glu884Val) |
single nucleotide variant |
not provided [RCV003332465] |
Chr2:43934275 [GRCh38]
Chr2:44161414 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.456_457del (p.Leu153fs) |
microsatellite |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461793] |
Chr2:43979838..43979839 [GRCh38]
Chr2:44206977..44206978 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2559dup (p.Val854fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461799] |
Chr2:43934823..43934824 [GRCh38]
Chr2:44161962..44161963 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2285del (p.Gly762fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461802] |
Chr2:43945343 [GRCh38]
Chr2:44172482 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1268C>T (p.Ala423Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003362448] |
Chr2:43973708 [GRCh38]
Chr2:44200847 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1735+2T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469948]|not provided [RCV003699109] |
Chr2:43949600 [GRCh38]
Chr2:44176739 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3148+1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469953] |
Chr2:43918024 [GRCh38]
Chr2:44145163 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.205C>T (p.Gln69Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469956] |
Chr2:43982379 [GRCh38]
Chr2:44209518 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3031del (p.Val1011fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469961] |
Chr2:43918264 [GRCh38]
Chr2:44145403 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3645C>G (p.Tyr1215Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469965] |
Chr2:43899530 [GRCh38]
Chr2:44126669 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3979_3981delinsGG (p.Ser1327fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469963] |
Chr2:43894549..43894551 [GRCh38]
Chr2:44121688..44121690 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3979del (p.Ser1327fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461792] |
Chr2:43894551 [GRCh38]
Chr2:44121690 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.650+1del |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461794] |
Chr2:43976993 [GRCh38]
Chr2:44204132 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3151del |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461798] |
Chr2:43912556 [GRCh38]
Chr2:44139695 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.580del (p.Gln194fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003476459] |
Chr2:43977166 [GRCh38]
Chr2:44204305 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1470A>C (p.Ser490=) |
single nucleotide variant |
not provided [RCV003569743] |
Chr2:43963606 [GRCh38]
Chr2:44190745 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-15T>G |
single nucleotide variant |
not provided [RCV003873296] |
Chr2:43974773 [GRCh38]
Chr2:44201912 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2080-16C>A |
single nucleotide variant |
not provided [RCV003873941] |
Chr2:43946259 [GRCh38]
Chr2:44173398 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1014A>T (p.Ala338=) |
single nucleotide variant |
not provided [RCV003543348] |
Chr2:43974291 [GRCh38]
Chr2:44201430 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-6C>T |
single nucleotide variant |
not provided [RCV003875247] |
Chr2:43974764 [GRCh38]
Chr2:44201903 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1449A>C (p.Pro483=) |
single nucleotide variant |
not provided [RCV003569613] |
Chr2:43963627 [GRCh38]
Chr2:44190766 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-2A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461796] |
Chr2:43947372 [GRCh38]
Chr2:44174511 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.311T>G (p.Leu104Arg) |
single nucleotide variant |
not provided [RCV004778772] |
Chr2:43982273 [GRCh38]
Chr2:44209412 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1583-6T>C |
single nucleotide variant |
not provided [RCV003571539] |
Chr2:43957457 [GRCh38]
Chr2:44184596 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2736+20_2736+30del |
deletion |
not provided [RCV003873674] |
Chr2:43934160..43934170 [GRCh38]
Chr2:44161299..44161309 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2225C>A (p.Ser742Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469946] |
Chr2:43945403 [GRCh38]
Chr2:44172542 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.346+1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469949] |
Chr2:43982237 [GRCh38]
Chr2:44209376 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3985+1811_4077delinsA |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469951] |
Chr2:43889785..43892734 [GRCh38]
Chr2:44116924..44119873 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3149-2A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469955] |
Chr2:43912560 [GRCh38]
Chr2:44139699 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1775del (p.Met592fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469958] |
Chr2:43948479 [GRCh38]
Chr2:44175618 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.48G>A (p.Ala16=) |
single nucleotide variant |
not provided [RCV003874122] |
Chr2:43995900 [GRCh38]
Chr2:44223039 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-11C>A |
single nucleotide variant |
not provided [RCV003874144] |
Chr2:43889887 [GRCh38]
Chr2:44117026 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.737+18G>C |
single nucleotide variant |
not provided [RCV003570510] |
Chr2:43976125 [GRCh38]
Chr2:44203264 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2555_2559del (p.Tyr852fs) |
deletion |
not provided [RCV003543283] |
Chr2:43934824..43934828 [GRCh38]
Chr2:44161963..44161967 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1059A>T (p.Val353=) |
single nucleotide variant |
not provided [RCV003570583] |
Chr2:43974246 [GRCh38]
Chr2:44201385 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3941T>G (p.Leu1314Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469950] |
Chr2:43894589 [GRCh38]
Chr2:44121728 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.738-1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469964] |
Chr2:43975218 [GRCh38]
Chr2:44202357 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.4114_4115insAT (p.Phe1372fs) |
insertion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469966] |
Chr2:43889747..43889748 [GRCh38]
Chr2:44116886..44116887 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3826-1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469968] |
Chr2:43896709 [GRCh38]
Chr2:44123848 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3563_3566del (p.Ile1188fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469969] |
Chr2:43901323..43901326 [GRCh38]
Chr2:44128462..44128465 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3148+14G>C |
single nucleotide variant |
not provided [RCV003874119] |
Chr2:43918011 [GRCh38]
Chr2:44145150 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.346+14T>G |
single nucleotide variant |
not provided [RCV003874692] |
Chr2:43982224 [GRCh38]
Chr2:44209363 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.305del (p.Lys102fs) |
deletion |
not provided [RCV003568966] |
Chr2:43982279 [GRCh38]
Chr2:44209418 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.630A>T (p.Val210=) |
single nucleotide variant |
not provided [RCV003570620] |
Chr2:43977014 [GRCh38]
Chr2:44204153 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3569+11G>A |
single nucleotide variant |
not provided [RCV003874775] |
Chr2:43901309 [GRCh38]
Chr2:44128448 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1965+14del |
deletion |
not provided [RCV003875073] |
Chr2:43947717 [GRCh38]
Chr2:44174856 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1104C>T (p.Gly368=) |
single nucleotide variant |
not provided [RCV003568887] |
Chr2:43974201 [GRCh38]
Chr2:44201340 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3040-18A>C |
single nucleotide variant |
not provided [RCV003686116] |
Chr2:43918151 [GRCh38]
Chr2:44145290 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3529A>C (p.Met1177Leu) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003486142]|not provided [RCV004765858] |
Chr2:43901360 [GRCh38]
Chr2:44128499 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3040-1G>T |
single nucleotide variant |
not provided [RCV003543662] |
Chr2:43918134 [GRCh38]
Chr2:44145273 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1156-19G>T |
single nucleotide variant |
not provided [RCV003691366] |
Chr2:43973919 [GRCh38]
Chr2:44201058 [GRCh37]
Chr2:2p21 |
likely benign |
| GRCh37/hg19 2p21(chr2:44030752-44114573)x1 |
copy number loss |
not provided [RCV003484660] |
Chr2:44030752..44114573 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1456_*1457insTTTTTTTTTTTTTTTTTTTTTTTT |
insertion |
not provided [RCV003407210] |
Chr2:43887143..43887144 [GRCh38]
Chr2:44114282..44114283 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.451del (p.Asp151fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469967] |
Chr2:43979844 [GRCh38]
Chr2:44206983 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1944_1947del (p.Ser648fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469971] |
Chr2:43947749..43947752 [GRCh38]
Chr2:44174888..44174891 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.*1438_*1456dup |
duplication |
not provided [RCV003426942] |
Chr2:43887143..43887144 [GRCh38]
Chr2:44114282..44114283 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469944]|not provided [RCV003669431] |
Chr2:43976993 [GRCh38]
Chr2:44204132 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2211-1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469970] |
Chr2:43945418 [GRCh38]
Chr2:44172557 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.79C>G (p.Leu27Val) |
single nucleotide variant |
not provided [RCV003441358] |
Chr2:43995869 [GRCh38]
Chr2:44223008 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2211-17G>A |
single nucleotide variant |
not provided [RCV003880735] |
Chr2:43945434 [GRCh38]
Chr2:44172573 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.495T>G (p.Tyr165Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003476460] |
Chr2:43977251 [GRCh38]
Chr2:44204390 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3254_3255del (p.Gln1085fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003476461]|not provided [RCV003708806] |
Chr2:43912452..43912453 [GRCh38]
Chr2:44139591..44139592 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.2024dup (p.Asn675fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461791] |
Chr2:43947311..43947312 [GRCh38]
Chr2:44174450..44174451 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3928_3938del (p.Leu1310fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461795] |
Chr2:43894592..43894602 [GRCh38]
Chr2:44121731..44121741 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.149+14C>T |
single nucleotide variant |
not provided [RCV003825773] |
Chr2:43995785 [GRCh38]
Chr2:44222924 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3605A>T (p.Asn1202Ile) |
single nucleotide variant |
LRPPRC-related disorder [RCV003404420] |
Chr2:43899570 [GRCh38]
Chr2:44126709 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1216_1237dup (p.Cys413fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461800] |
Chr2:43973818..43973819 [GRCh38]
Chr2:44200957..44200958 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2630-5_2630-2del |
microsatellite |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003461801] |
Chr2:43934298..43934301 [GRCh38]
Chr2:44161437..44161440 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1517T>C (p.Met506Thr) |
single nucleotide variant |
LRPPRC-related disorder [RCV003412455] |
Chr2:43960606 [GRCh38]
Chr2:44187745 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.*1440_*1456dup |
duplication |
not provided [RCV003415557] |
Chr2:43887143..43887144 [GRCh38]
Chr2:44114282..44114283 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.320_321del (p.Lys107fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469945] |
Chr2:43982263..43982264 [GRCh38]
Chr2:44209402..44209403 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1165_1198del (p.Lys389fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469952] |
Chr2:43973858..43973891 [GRCh38]
Chr2:44200997..44201030 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.738-2A>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469954] |
Chr2:43975219 [GRCh38]
Chr2:44202358 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1156-2A>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469957] |
Chr2:43973902 [GRCh38]
Chr2:44201041 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.245del (p.Gln82fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469959] |
Chr2:43982339 [GRCh38]
Chr2:44209478 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2569_2585del (p.Arg857fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469960] |
Chr2:43934798..43934814 [GRCh38]
Chr2:44161937..44161953 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1544_1548dup (p.Ala517fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469962] |
Chr2:43960574..43960575 [GRCh38]
Chr2:44187713..44187714 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2986_3001del (p.Leu996fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469943]|not provided [RCV003779046] |
Chr2:43918294..43918309 [GRCh38]
Chr2:44145433..44145448 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.1389_1393del (p.Lys463fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003469947] |
Chr2:43963683..43963687 [GRCh38]
Chr2:44190822..44190826 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1840A>G (p.Met614Val) |
single nucleotide variant |
LRPPRC-related disorder [RCV003402637] |
Chr2:43948414 [GRCh38]
Chr2:44175553 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1134A>G (p.Gln378=) |
single nucleotide variant |
not provided [RCV003696622] |
Chr2:43974171 [GRCh38]
Chr2:44201310 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2629+20C>T |
single nucleotide variant |
not provided [RCV003740220] |
Chr2:43934734 [GRCh38]
Chr2:44161873 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-12del |
deletion |
not provided [RCV003740159] |
Chr2:43889888 [GRCh38]
Chr2:44117027 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1678-12C>T |
single nucleotide variant |
not provided [RCV003688118] |
Chr2:43949671 [GRCh38]
Chr2:44176810 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2805+18A>G |
single nucleotide variant |
not provided [RCV003573652] |
Chr2:43925875 [GRCh38]
Chr2:44153014 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1583-19T>C |
single nucleotide variant |
not provided [RCV003738702] |
Chr2:43957470 [GRCh38]
Chr2:44184609 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.318A>G (p.Gln106=) |
single nucleotide variant |
not provided [RCV003694300] |
Chr2:43982266 [GRCh38]
Chr2:44209405 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+10A>G |
single nucleotide variant |
not provided [RCV003695429] |
Chr2:43975081 [GRCh38]
Chr2:44202220 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2296+17A>G |
single nucleotide variant |
not provided [RCV003740230] |
Chr2:43945315 [GRCh38]
Chr2:44172454 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1774A>C (p.Met592Leu) |
single nucleotide variant |
not provided [RCV003579491] |
Chr2:43948480 [GRCh38]
Chr2:44175619 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2630-6A>G |
single nucleotide variant |
not provided [RCV003693102] |
Chr2:43934302 [GRCh38]
Chr2:44161441 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1920+15G>A |
single nucleotide variant |
not provided [RCV003740233] |
Chr2:43948107 [GRCh38]
Chr2:44175246 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1735+17G>C |
single nucleotide variant |
not provided [RCV003687002] |
Chr2:43949585 [GRCh38]
Chr2:44176724 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-19A>T |
single nucleotide variant |
not provided [RCV003694487] |
Chr2:43889895 [GRCh38]
Chr2:44117034 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2896+15T>C |
single nucleotide variant |
not provided [RCV003579217] |
Chr2:43925052 [GRCh38]
Chr2:44152191 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+17A>G |
single nucleotide variant |
not provided [RCV003544528] |
Chr2:43976977 [GRCh38]
Chr2:44204116 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1650-9C>T |
single nucleotide variant |
not provided [RCV003714737] |
Chr2:43950609 [GRCh38]
Chr2:44177748 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-8T>A |
single nucleotide variant |
not provided [RCV003577384] |
Chr2:43947378 [GRCh38]
Chr2:44174517 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2481A>T (p.Pro827=) |
single nucleotide variant |
not provided [RCV003826028] |
Chr2:43943710 [GRCh38]
Chr2:44170849 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-8C>G |
single nucleotide variant |
not provided [RCV003687308] |
Chr2:43974766 [GRCh38]
Chr2:44201905 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2079+16A>G |
single nucleotide variant |
not provided [RCV003878255] |
Chr2:43947241 [GRCh38]
Chr2:44174380 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3039+16A>G |
single nucleotide variant |
not provided [RCV003739198] |
Chr2:43918240 [GRCh38]
Chr2:44145379 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1489-16T>C |
single nucleotide variant |
not provided [RCV003740086] |
Chr2:43960650 [GRCh38]
Chr2:44187789 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.381A>G (p.Leu127=) |
single nucleotide variant |
not provided [RCV003740281] |
Chr2:43979914 [GRCh38]
Chr2:44207053 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4125C>T (p.Pro1375=) |
single nucleotide variant |
not provided [RCV003715233] |
Chr2:43889737 [GRCh38]
Chr2:44116876 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.150-1G>T |
single nucleotide variant |
not provided [RCV003576313] |
Chr2:43982435 [GRCh38]
Chr2:44209574 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1009+15dup |
duplication |
not provided [RCV003739372] |
Chr2:43974598..43974599 [GRCh38]
Chr2:44201737..44201738 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.120G>T (p.Leu40=) |
single nucleotide variant |
not provided [RCV003696097] |
Chr2:43995828 [GRCh38]
Chr2:44222967 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3825+18A>G |
single nucleotide variant |
not provided [RCV003829688] |
Chr2:43899201 [GRCh38]
Chr2:44126340 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3149-17T>C |
single nucleotide variant |
not provided [RCV003831144] |
Chr2:43912575 [GRCh38]
Chr2:44139714 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-9_1966-5del |
microsatellite |
not provided [RCV003579445] |
Chr2:43947375..43947379 [GRCh38]
Chr2:44174514..44174518 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2802T>C (p.Asn934=) |
single nucleotide variant |
not provided [RCV003687805] |
Chr2:43925896 [GRCh38]
Chr2:44153035 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2736+18G>A |
single nucleotide variant |
not provided [RCV003740093] |
Chr2:43934172 [GRCh38]
Chr2:44161311 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2109A>C (p.Ala703=) |
single nucleotide variant |
not provided [RCV003579384] |
Chr2:43946214 [GRCh38]
Chr2:44173353 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1842+11G>T |
single nucleotide variant |
not provided [RCV003740334] |
Chr2:43948401 [GRCh38]
Chr2:44175540 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3825+9C>T |
single nucleotide variant |
not provided [RCV003740275] |
Chr2:43899210 [GRCh38]
Chr2:44126349 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3819C>A (p.Leu1273=) |
single nucleotide variant |
not provided [RCV003547088] |
Chr2:43899225 [GRCh38]
Chr2:44126364 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1489-9T>C |
single nucleotide variant |
not provided [RCV003577573] |
Chr2:43960643 [GRCh38]
Chr2:44187782 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.309G>A (p.Lys103=) |
single nucleotide variant |
not provided [RCV003738677] |
Chr2:43982275 [GRCh38]
Chr2:44209414 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+7_650+8dup |
duplication |
not provided [RCV003695690] |
Chr2:43976985..43976986 [GRCh38]
Chr2:44204124..44204125 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.828A>G (p.Ala276=) |
single nucleotide variant |
not provided [RCV003577992] |
Chr2:43975127 [GRCh38]
Chr2:44202266 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1370-11T>G |
single nucleotide variant |
not provided [RCV003738972] |
Chr2:43963717 [GRCh38]
Chr2:44190856 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1551A>G (p.Ala517=) |
single nucleotide variant |
not provided [RCV003693648] |
Chr2:43960572 [GRCh38]
Chr2:44187711 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-18C>A |
single nucleotide variant |
not provided [RCV003829318] |
Chr2:43947388 [GRCh38]
Chr2:44174527 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-8del |
deletion |
not provided [RCV003714434] |
Chr2:43934304 [GRCh38]
Chr2:44161443 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+1G>A |
single nucleotide variant |
not provided [RCV003573748] |
Chr2:43946112 [GRCh38]
Chr2:44173251 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3933T>A (p.Ile1311=) |
single nucleotide variant |
not provided [RCV003544354] |
Chr2:43894597 [GRCh38]
Chr2:44121736 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1843-18del |
deletion |
not provided [RCV003876980] |
Chr2:43948217 [GRCh38]
Chr2:44175356 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.630A>C (p.Val210=) |
single nucleotide variant |
not provided [RCV003662714] |
Chr2:43977014 [GRCh38]
Chr2:44204153 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1261+19T>C |
single nucleotide variant |
not provided [RCV003824732] |
Chr2:43973776 [GRCh38]
Chr2:44200915 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3149-19del |
deletion |
not provided [RCV003827634] |
Chr2:43912577 [GRCh38]
Chr2:44139716 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1489-17A>G |
single nucleotide variant |
not provided [RCV003694478] |
Chr2:43960651 [GRCh38]
Chr2:44187790 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-7T>C |
single nucleotide variant |
not provided [RCV003547171] |
Chr2:43934885 [GRCh38]
Chr2:44162024 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2742A>G (p.Pro914=) |
single nucleotide variant |
not provided [RCV003713942] |
Chr2:43925956 [GRCh38]
Chr2:44153095 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3364+11A>G |
single nucleotide variant |
not provided [RCV003713325] |
Chr2:43905681 [GRCh38]
Chr2:44132820 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-17T>C |
single nucleotide variant |
not provided [RCV003660077] |
Chr2:43889893 [GRCh38]
Chr2:44117032 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2256A>T (p.Val752=) |
single nucleotide variant |
not provided [RCV003689927] |
Chr2:43945372 [GRCh38]
Chr2:44172511 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2297-18del |
deletion |
not provided [RCV003693987] |
Chr2:43943912 [GRCh38]
Chr2:44171051 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.149+17T>C |
single nucleotide variant |
not provided [RCV003660213] |
Chr2:43995782 [GRCh38]
Chr2:44222921 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1891G>T (p.Glu631Ter) |
single nucleotide variant |
not provided [RCV003687881] |
Chr2:43948151 [GRCh38]
Chr2:44175290 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.159G>A (p.Leu53=) |
single nucleotide variant |
not provided [RCV003573296] |
Chr2:43982425 [GRCh38]
Chr2:44209564 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.150-19_150-16del |
microsatellite |
not provided [RCV003575920] |
Chr2:43982450..43982453 [GRCh38]
Chr2:44209589..44209592 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3054T>C (p.Asp1018=) |
single nucleotide variant |
not provided [RCV003690474] |
Chr2:43918119 [GRCh38]
Chr2:44145258 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-16A>G |
single nucleotide variant |
not provided [RCV003826366] |
Chr2:43973730 [GRCh38]
Chr2:44200869 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.507T>A (p.Leu169=) |
single nucleotide variant |
not provided [RCV003692232] |
Chr2:43977239 [GRCh38]
Chr2:44204378 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+9dup |
duplication |
not provided [RCV003692920] |
Chr2:43975081..43975082 [GRCh38]
Chr2:44202220..44202221 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+19T>A |
single nucleotide variant |
not provided [RCV003716047] |
Chr2:43975072 [GRCh38]
Chr2:44202211 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1728A>G (p.Gly576=) |
single nucleotide variant |
not provided [RCV003693469] |
Chr2:43949609 [GRCh38]
Chr2:44176748 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3279G>C (p.Ala1093=) |
single nucleotide variant |
not provided [RCV003695373] |
Chr2:43905777 [GRCh38]
Chr2:44132916 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2172T>C (p.His724=) |
single nucleotide variant |
not provided [RCV003695314] |
Chr2:43946151 [GRCh38]
Chr2:44173290 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-15_1010-14del |
deletion |
not provided [RCV003578510] |
Chr2:43974309..43974310 [GRCh38]
Chr2:44201448..44201449 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2736+20G>C |
single nucleotide variant |
not provided [RCV003576021] |
Chr2:43934170 [GRCh38]
Chr2:44161309 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4053G>A (p.Leu1351=) |
single nucleotide variant |
not provided [RCV003576917] |
Chr2:43889809 [GRCh38]
Chr2:44116948 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+17A>C |
single nucleotide variant |
not provided [RCV003663466] |
Chr2:43957368 [GRCh38]
Chr2:44184507 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2877C>A (p.Tyr959Ter) |
single nucleotide variant |
not provided [RCV003547855] |
Chr2:43925086 [GRCh38]
Chr2:44152225 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1156-19G>C |
single nucleotide variant |
not provided [RCV003695400] |
Chr2:43973919 [GRCh38]
Chr2:44201058 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-1G>A |
single nucleotide variant |
not provided [RCV003577514] |
Chr2:43974296 [GRCh38]
Chr2:44201435 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1369+19_1369+20insCAAT |
insertion |
not provided [RCV003738716] |
Chr2:43973587..43973588 [GRCh38]
Chr2:44200726..44200727 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.347-13C>G |
single nucleotide variant |
not provided [RCV003878711] |
Chr2:43979961 [GRCh38]
Chr2:44207100 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3901-18C>A |
single nucleotide variant |
not provided [RCV003879287] |
Chr2:43894647 [GRCh38]
Chr2:44121786 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.591+11dup |
duplication |
not provided [RCV003881741] |
Chr2:43977143..43977144 [GRCh38]
Chr2:44204282..44204283 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3411T>G (p.Pro1137=) |
single nucleotide variant |
not provided [RCV003578897] |
Chr2:43901478 [GRCh38]
Chr2:44128617 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.785del (p.Gly262fs) |
deletion |
not provided [RCV003690813] |
Chr2:43975170 [GRCh38]
Chr2:44202309 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2629+20C>G |
single nucleotide variant |
not provided [RCV003686515] |
Chr2:43934734 [GRCh38]
Chr2:44161873 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-17A>G |
single nucleotide variant |
not provided [RCV003573333] |
Chr2:43934895 [GRCh38]
Chr2:44162034 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+20del |
deletion |
not provided [RCV003662960] |
Chr2:43995779 [GRCh38]
Chr2:44222918 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3040-19G>A |
single nucleotide variant |
not provided [RCV003739409] |
Chr2:43918152 [GRCh38]
Chr2:44145291 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2079+9T>A |
single nucleotide variant |
not provided [RCV003878832] |
Chr2:43947248 [GRCh38]
Chr2:44174387 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3310del (p.Asp1104fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004574069]|not provided [RCV003548010] |
Chr2:43905746 [GRCh38]
Chr2:44132885 [GRCh37]
Chr2:2p21 |
pathogenic|likely pathogenic |
| NM_133259.4(LRPPRC):c.3639C>G (p.Pro1213=) |
single nucleotide variant |
not provided [RCV003544094] |
Chr2:43899536 [GRCh38]
Chr2:44126675 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1098A>G (p.Glu366=) |
single nucleotide variant |
not provided [RCV003690014] |
Chr2:43974207 [GRCh38]
Chr2:44201346 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1434A>T (p.Thr478=) |
single nucleotide variant |
not provided [RCV003578686] |
Chr2:43963642 [GRCh38]
Chr2:44190781 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1030C>G (p.Leu344Val) |
single nucleotide variant |
not provided [RCV003578413] |
Chr2:43974275 [GRCh38]
Chr2:44201414 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.486_489del (p.Ser163fs) |
deletion |
not provided [RCV003578698] |
Chr2:43977257..43977260 [GRCh38]
Chr2:44204396..44204399 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.4129-19_4129-17del |
deletion |
not provided [RCV003880667] |
Chr2:43888673..43888675 [GRCh38]
Chr2:44115812..44115814 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3387A>G (p.Thr1129=) |
single nucleotide variant |
not provided [RCV003575736] |
Chr2:43901502 [GRCh38]
Chr2:44128641 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2081del (p.Asn694fs) |
deletion |
not provided [RCV003575739] |
Chr2:43946242 [GRCh38]
Chr2:44173381 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2630-20_2630-19insA |
insertion |
not provided [RCV003739435] |
Chr2:43934315..43934316 [GRCh38]
Chr2:44161454..44161455 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3825+17C>T |
single nucleotide variant |
not provided [RCV003696120] |
Chr2:43899202 [GRCh38]
Chr2:44126341 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1955A>G (p.Asp652Gly) |
single nucleotide variant |
not provided [RCV003687414] |
Chr2:43947741 [GRCh38]
Chr2:44174880 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1431T>A (p.Tyr477Ter) |
single nucleotide variant |
not provided [RCV003576913] |
Chr2:43963645 [GRCh38]
Chr2:44190784 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.994A>T (p.Arg332Ter) |
single nucleotide variant |
not provided [RCV003547170] |
Chr2:43974629 [GRCh38]
Chr2:44201768 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3117_3118del (p.Leu1040fs) |
microsatellite |
not provided [RCV003695997] |
Chr2:43918055..43918056 [GRCh38]
Chr2:44145194..44145195 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3339del (p.Gln1114fs) |
deletion |
not provided [RCV003575816] |
Chr2:43905717 [GRCh38]
Chr2:44132856 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1678-5A>T |
single nucleotide variant |
not provided [RCV003547660] |
Chr2:43949664 [GRCh38]
Chr2:44176803 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1014A>G (p.Ala338=) |
single nucleotide variant |
not provided [RCV003693035] |
Chr2:43974291 [GRCh38]
Chr2:44201430 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3807T>C (p.Asp1269=) |
single nucleotide variant |
not provided [RCV003662165] |
Chr2:43899237 [GRCh38]
Chr2:44126376 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1650-14G>T |
single nucleotide variant |
not provided [RCV003829566] |
Chr2:43950614 [GRCh38]
Chr2:44177753 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3901-15T>C |
single nucleotide variant |
not provided [RCV003660567] |
Chr2:43894644 [GRCh38]
Chr2:44121783 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3606T>C (p.Asn1202=) |
single nucleotide variant |
not provided [RCV003738550] |
Chr2:43899569 [GRCh38]
Chr2:44126708 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1678-8C>G |
single nucleotide variant |
not provided [RCV003665975] |
Chr2:43949667 [GRCh38]
Chr2:44176806 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3423A>G (p.Ala1141=) |
single nucleotide variant |
not provided [RCV003575190] |
Chr2:43901466 [GRCh38]
Chr2:44128605 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1261+18T>C |
single nucleotide variant |
not provided [RCV003573751] |
Chr2:43973777 [GRCh38]
Chr2:44200916 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+16A>G |
single nucleotide variant |
not provided [RCV003687046] |
Chr2:43975075 [GRCh38]
Chr2:44202214 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2504+14A>G |
single nucleotide variant |
not provided [RCV003880206] |
Chr2:43943673 [GRCh38]
Chr2:44170812 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1716G>A (p.Gln572=) |
single nucleotide variant |
not provided [RCV003544300] |
Chr2:43949621 [GRCh38]
Chr2:44176760 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.370T>C (p.Leu124=) |
single nucleotide variant |
not provided [RCV003692697] |
Chr2:43979925 [GRCh38]
Chr2:44207064 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1843-11C>T |
single nucleotide variant |
not provided [RCV003574467] |
Chr2:43948210 [GRCh38]
Chr2:44175349 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+10T>C |
single nucleotide variant |
not provided [RCV003692252] |
Chr2:43957375 [GRCh38]
Chr2:44184514 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2896+17T>G |
single nucleotide variant |
not provided [RCV003693647] |
Chr2:43925050 [GRCh38]
Chr2:44152189 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2250G>A (p.Lys750=) |
single nucleotide variant |
not provided [RCV003691771] |
Chr2:43945378 [GRCh38]
Chr2:44172517 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-18T>C |
single nucleotide variant |
not provided [RCV003714683] |
Chr2:43974313 [GRCh38]
Chr2:44201452 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1762T>C (p.Leu588=) |
single nucleotide variant |
not provided [RCV003879180] |
Chr2:43948492 [GRCh38]
Chr2:44175631 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3445T>C (p.Leu1149=) |
single nucleotide variant |
not provided [RCV003715867] |
Chr2:43901444 [GRCh38]
Chr2:44128583 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.294C>A (p.Gly98=) |
single nucleotide variant |
not provided [RCV003881111] |
Chr2:43982290 [GRCh38]
Chr2:44209429 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1458T>C (p.Asp486=) |
single nucleotide variant |
not provided [RCV003881159] |
Chr2:43963618 [GRCh38]
Chr2:44190757 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4128+16T>C |
single nucleotide variant |
not provided [RCV003715182] |
Chr2:43889718 [GRCh38]
Chr2:44116857 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1736-17C>G |
single nucleotide variant |
not provided [RCV003824909] |
Chr2:43948535 [GRCh38]
Chr2:44175674 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.347-7del |
deletion |
not provided [RCV003687472] |
Chr2:43979955 [GRCh38]
Chr2:44207094 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.63G>C (p.Pro21=) |
single nucleotide variant |
not provided [RCV003876949] |
Chr2:43995885 [GRCh38]
Chr2:44223024 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3150G>T (p.Gly1050=) |
single nucleotide variant |
not provided [RCV003574114] |
Chr2:43912557 [GRCh38]
Chr2:44139696 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4128+11_4128+14del |
deletion |
not provided [RCV003716334] |
Chr2:43889720..43889723 [GRCh38]
Chr2:44116859..44116862 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-18A>T |
single nucleotide variant |
not provided [RCV003690518] |
Chr2:43934896 [GRCh38]
Chr2:44162035 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1489-5T>C |
single nucleotide variant |
not provided [RCV003686472] |
Chr2:43960639 [GRCh38]
Chr2:44187778 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3219C>T (p.Leu1073=) |
single nucleotide variant |
not provided [RCV003824911] |
Chr2:43912488 [GRCh38]
Chr2:44139627 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-13T>C |
single nucleotide variant |
not provided [RCV003572239] |
Chr2:43934891 [GRCh38]
Chr2:44162030 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.327T>C (p.Phe109=) |
single nucleotide variant |
not provided [RCV003661228] |
Chr2:43982257 [GRCh38]
Chr2:44209396 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.123C>G (p.Pro41=) |
single nucleotide variant |
not provided [RCV003572407] |
Chr2:43995825 [GRCh38]
Chr2:44222964 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2823A>G (p.Lys941=) |
single nucleotide variant |
not provided [RCV003713069] |
Chr2:43925140 [GRCh38]
Chr2:44152279 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.469+8T>G |
single nucleotide variant |
not provided [RCV003662642] |
Chr2:43979818 [GRCh38]
Chr2:44206957 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1155+16T>C |
single nucleotide variant |
not provided [RCV003665893] |
Chr2:43974134 [GRCh38]
Chr2:44201273 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.592-15C>G |
single nucleotide variant |
not provided [RCV003811531] |
Chr2:43977067 [GRCh38]
Chr2:44204206 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2010_2011del (p.Leu671fs) |
microsatellite |
not provided [RCV003549952] |
Chr2:43947325..43947326 [GRCh38]
Chr2:44174464..44174465 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1262-16A>C |
single nucleotide variant |
not provided [RCV003697834] |
Chr2:43973730 [GRCh38]
Chr2:44200869 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4035T>C (p.Thr1345=) |
single nucleotide variant |
not provided [RCV003550044] |
Chr2:43889827 [GRCh38]
Chr2:44116966 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3570-20A>G |
single nucleotide variant |
not provided [RCV003664380] |
Chr2:43899625 [GRCh38]
Chr2:44126764 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1155+8G>C |
single nucleotide variant |
not provided [RCV003740440] |
Chr2:43974142 [GRCh38]
Chr2:44201281 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+8C>T |
single nucleotide variant |
not provided [RCV003849311] |
Chr2:43946105 [GRCh38]
Chr2:44173244 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.336C>T (p.Thr112=) |
single nucleotide variant |
not provided [RCV003696944] |
Chr2:43982248 [GRCh38]
Chr2:44209387 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2845C>G (p.Leu949Val) |
single nucleotide variant |
not provided [RCV003580810] |
Chr2:43925118 [GRCh38]
Chr2:44152257 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.469+19A>G |
single nucleotide variant |
not provided [RCV003849536] |
Chr2:43979807 [GRCh38]
Chr2:44206946 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-18A>G |
single nucleotide variant |
not provided [RCV003834237] |
Chr2:43934896 [GRCh38]
Chr2:44162035 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4077C>A (p.Tyr1359Ter) |
single nucleotide variant |
not provided [RCV003581030] |
Chr2:43889785 [GRCh38]
Chr2:44116924 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3148+13G>A |
single nucleotide variant |
not provided [RCV003659438] |
Chr2:43918012 [GRCh38]
Chr2:44145151 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-19A>G |
single nucleotide variant |
not provided [RCV003810980] |
Chr2:43889895 [GRCh38]
Chr2:44117034 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-5T>C |
single nucleotide variant |
not provided [RCV003851054] |
Chr2:43974763 [GRCh38]
Chr2:44201902 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-11A>C |
single nucleotide variant |
not provided [RCV003717585] |
Chr2:43973725 [GRCh38]
Chr2:44200864 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3826-2A>G |
single nucleotide variant |
not provided [RCV003699557] |
Chr2:43896710 [GRCh38]
Chr2:44123849 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.693A>T (p.Thr231=) |
single nucleotide variant |
not provided [RCV003702387] |
Chr2:43976187 [GRCh38]
Chr2:44203326 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2296+19del |
deletion |
not provided [RCV003855548] |
Chr2:43945313 [GRCh38]
Chr2:44172452 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-13G>T |
single nucleotide variant |
not provided [RCV003724202] |
Chr2:43974771 [GRCh38]
Chr2:44201910 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.867T>C (p.Thr289=) |
single nucleotide variant |
not provided [RCV003849291] |
Chr2:43974756 [GRCh38]
Chr2:44201895 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2979A>G (p.Leu993=) |
single nucleotide variant |
not provided [RCV003670364] |
Chr2:43918316 [GRCh38]
Chr2:44145455 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-13A>G |
single nucleotide variant |
not provided [RCV003811548] |
Chr2:43973727 [GRCh38]
Chr2:44200866 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2005G>C (p.Glu669Gln) |
single nucleotide variant |
not provided [RCV003696965] |
Chr2:43947331 [GRCh38]
Chr2:44174470 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2676T>C (p.Tyr892=) |
single nucleotide variant |
not provided [RCV003723672] |
Chr2:43934250 [GRCh38]
Chr2:44161389 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.737+11A>C |
single nucleotide variant |
not provided [RCV003851996] |
Chr2:43976132 [GRCh38]
Chr2:44203271 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1534T>C (p.Leu512=) |
single nucleotide variant |
not provided [RCV003673694] |
Chr2:43960589 [GRCh38]
Chr2:44187728 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3684G>A (p.Glu1228=) |
single nucleotide variant |
not provided [RCV003670235] |
Chr2:43899491 [GRCh38]
Chr2:44126630 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3304C>T (p.Leu1102=) |
single nucleotide variant |
not provided [RCV003663646] |
Chr2:43905752 [GRCh38]
Chr2:44132891 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3730T>C (p.Leu1244=) |
single nucleotide variant |
not provided [RCV003726457] |
Chr2:43899314 [GRCh38]
Chr2:44126453 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.984T>C (p.Val328=) |
single nucleotide variant |
not provided [RCV003854990] |
Chr2:43974639 [GRCh38]
Chr2:44201778 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2415A>T (p.Val805=) |
single nucleotide variant |
not provided [RCV003668731] |
Chr2:43943776 [GRCh38]
Chr2:44170915 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2760T>G (p.Ser920=) |
single nucleotide variant |
not provided [RCV003852118] |
Chr2:43925938 [GRCh38]
Chr2:44153077 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-11dup |
duplication |
not provided [RCV003725867] |
Chr2:43888666..43888667 [GRCh38]
Chr2:44115805..44115806 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1842+10C>G |
single nucleotide variant |
not provided [RCV003664212] |
Chr2:43948402 [GRCh38]
Chr2:44175541 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1843-9T>A |
single nucleotide variant |
not provided [RCV003716778] |
Chr2:43948208 [GRCh38]
Chr2:44175347 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4068A>T (p.Leu1356=) |
single nucleotide variant |
not provided [RCV003697252] |
Chr2:43889794 [GRCh38]
Chr2:44116933 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+19A>T |
single nucleotide variant |
not provided [RCV003670348] |
Chr2:43946094 [GRCh38]
Chr2:44173233 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3111A>G (p.Lys1037=) |
single nucleotide variant |
not provided [RCV003580609] |
Chr2:43918062 [GRCh38]
Chr2:44145201 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+16C>A |
single nucleotide variant |
not provided [RCV003673703] |
Chr2:43946097 [GRCh38]
Chr2:44173236 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-20T>A |
single nucleotide variant |
not provided [RCV003726160] |
Chr2:43975237 [GRCh38]
Chr2:44202376 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3276-15G>T |
single nucleotide variant |
not provided [RCV003666554] |
Chr2:43905795 [GRCh38]
Chr2:44132934 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.346+11A>G |
single nucleotide variant |
not provided [RCV003702406] |
Chr2:43982227 [GRCh38]
Chr2:44209366 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-12del |
deletion |
not provided [RCV003726241] |
Chr2:43899346 [GRCh38]
Chr2:44126485 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3039+18A>G |
single nucleotide variant |
not provided [RCV003666593] |
Chr2:43918238 [GRCh38]
Chr2:44145377 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+12G>A |
single nucleotide variant |
not provided [RCV003667777] |
Chr2:43995787 [GRCh38]
Chr2:44222926 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2504+18del |
deletion |
not provided [RCV003668330] |
Chr2:43943669 [GRCh38]
Chr2:44170808 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1155+11C>G |
single nucleotide variant |
not provided [RCV003663690] |
Chr2:43974139 [GRCh38]
Chr2:44201278 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1794G>A (p.Gln598=) |
single nucleotide variant |
not provided [RCV003549358] |
Chr2:43948460 [GRCh38]
Chr2:44175599 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1755T>A (p.Leu585=) |
single nucleotide variant |
not provided [RCV003703405] |
Chr2:43948499 [GRCh38]
Chr2:44175638 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+9C>T |
single nucleotide variant |
not provided [RCV003668753] |
Chr2:43946104 [GRCh38]
Chr2:44173243 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3569+16C>A |
single nucleotide variant |
not provided [RCV003839314] |
Chr2:43901304 [GRCh38]
Chr2:44128443 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+19A>G |
single nucleotide variant |
not provided [RCV003811892] |
Chr2:43974595 [GRCh38]
Chr2:44201734 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-11C>G |
single nucleotide variant |
not provided [RCV003855559] |
Chr2:43899345 [GRCh38]
Chr2:44126484 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.576C>T (p.Asn192=) |
single nucleotide variant |
not provided [RCV003666550] |
Chr2:43977170 [GRCh38]
Chr2:44204309 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2080-14A>G |
single nucleotide variant |
not provided [RCV003724352] |
Chr2:43946257 [GRCh38]
Chr2:44173396 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3570-17T>C |
single nucleotide variant |
not provided [RCV003855612] |
Chr2:43899622 [GRCh38]
Chr2:44126761 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3275+12T>C |
single nucleotide variant |
not provided [RCV003836678] |
Chr2:43912420 [GRCh38]
Chr2:44139559 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1678-19G>A |
single nucleotide variant |
not provided [RCV003810822] |
Chr2:43949678 [GRCh38]
Chr2:44176817 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.102G>A (p.Leu34=) |
single nucleotide variant |
not provided [RCV003702657] |
Chr2:43995846 [GRCh38]
Chr2:44222985 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1261+11C>G |
single nucleotide variant |
not provided [RCV003854337] |
Chr2:43973784 [GRCh38]
Chr2:44200923 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.54G>C (p.Pro18=) |
single nucleotide variant |
not provided [RCV003669583] |
Chr2:43995894 [GRCh38]
Chr2:44223033 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3148+9A>C |
single nucleotide variant |
not provided [RCV003724181] |
Chr2:43918016 [GRCh38]
Chr2:44145155 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2806-9_2806-6del |
deletion |
not provided [RCV003725057] |
Chr2:43925163..43925166 [GRCh38]
Chr2:44152302..44152305 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-15G>T |
single nucleotide variant |
not provided [RCV003697432] |
Chr2:43976244 [GRCh38]
Chr2:44203383 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2079+9T>G |
single nucleotide variant |
not provided [RCV003723495] |
Chr2:43947248 [GRCh38]
Chr2:44174387 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-19C>G |
single nucleotide variant |
not provided [RCV003673841] |
Chr2:43976248 [GRCh38]
Chr2:44203387 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-20T>G |
single nucleotide variant |
not provided [RCV003726051] |
Chr2:43888676 [GRCh38]
Chr2:44115815 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-11T>C |
single nucleotide variant |
not provided [RCV003726065] |
Chr2:43975228 [GRCh38]
Chr2:44202367 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3743T>G (p.Phe1248Cys) |
single nucleotide variant |
not provided [RCV003667344] |
Chr2:43899301 [GRCh38]
Chr2:44126440 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2319G>A (p.Glu773=) |
single nucleotide variant |
not provided [RCV003668034] |
Chr2:43943872 [GRCh38]
Chr2:44171011 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3372G>C (p.Val1124=) |
single nucleotide variant |
not provided [RCV003856082] |
Chr2:43901517 [GRCh38]
Chr2:44128656 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4128+15A>C |
single nucleotide variant |
not provided [RCV003667383] |
Chr2:43889719 [GRCh38]
Chr2:44116858 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2079+18A>T |
single nucleotide variant |
not provided [RCV003671593] |
Chr2:43947239 [GRCh38]
Chr2:44174378 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1650-1G>T |
single nucleotide variant |
not provided [RCV003816545] |
Chr2:43950601 [GRCh38]
Chr2:44177740 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.149+13G>A |
single nucleotide variant |
not provided [RCV003838966] |
Chr2:43995786 [GRCh38]
Chr2:44222925 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1842+17del |
deletion |
not provided [RCV003851216] |
Chr2:43948395 [GRCh38]
Chr2:44175534 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3148+20G>A |
single nucleotide variant |
not provided [RCV003666852] |
Chr2:43918005 [GRCh38]
Chr2:44145144 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1582+9A>G |
single nucleotide variant |
LRPPRC-related disorder [RCV003948953]|not provided [RCV003724465] |
Chr2:43960532 [GRCh38]
Chr2:44187671 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-19T>G |
single nucleotide variant |
not provided [RCV003724134] |
Chr2:43934315 [GRCh38]
Chr2:44161454 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1488+20T>G |
single nucleotide variant |
not provided [RCV003810695] |
Chr2:43963568 [GRCh38]
Chr2:44190707 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.591+12C>T |
single nucleotide variant |
not provided [RCV003814250] |
Chr2:43977143 [GRCh38]
Chr2:44204282 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2080-12G>A |
single nucleotide variant |
not provided [RCV003696769] |
Chr2:43946255 [GRCh38]
Chr2:44173394 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1497A>G (p.Gly499=) |
single nucleotide variant |
not provided [RCV003724059] |
Chr2:43960626 [GRCh38]
Chr2:44187765 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1920+2TG[5] |
microsatellite |
not provided [RCV003701232] |
Chr2:43948112..43948113 [GRCh38]
Chr2:44175251..44175252 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1583-10del |
deletion |
not provided [RCV003580234] |
Chr2:43957461 [GRCh38]
Chr2:44184600 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3148+11A>G |
single nucleotide variant |
not provided [RCV003559959] |
Chr2:43918014 [GRCh38]
Chr2:44145153 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1683A>G (p.Thr561=) |
single nucleotide variant |
not provided [RCV003580464] |
Chr2:43949654 [GRCh38]
Chr2:44176793 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.346+18G>C |
single nucleotide variant |
not provided [RCV003668257] |
Chr2:43982220 [GRCh38]
Chr2:44209359 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2897-18C>T |
single nucleotide variant |
not provided [RCV003717895] |
Chr2:43918416 [GRCh38]
Chr2:44145555 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1650-18C>G |
single nucleotide variant |
not provided [RCV003671755] |
Chr2:43950618 [GRCh38]
Chr2:44177757 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2072C>G (p.Ser691Ter) |
single nucleotide variant |
not provided [RCV003700437] |
Chr2:43947264 [GRCh38]
Chr2:44174403 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1370-4G>T |
single nucleotide variant |
not provided [RCV003549953] |
Chr2:43963710 [GRCh38]
Chr2:44190849 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2340T>A (p.Leu780=) |
single nucleotide variant |
not provided [RCV003560484] |
Chr2:43943851 [GRCh38]
Chr2:44170990 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1333T>C (p.Leu445=) |
single nucleotide variant |
not provided [RCV003673017] |
Chr2:43973643 [GRCh38]
Chr2:44200782 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3087A>C (p.Ser1029=) |
single nucleotide variant |
not provided [RCV003702373] |
Chr2:43918086 [GRCh38]
Chr2:44145225 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2296+14C>A |
single nucleotide variant |
not provided [RCV003697419] |
Chr2:43945318 [GRCh38]
Chr2:44172457 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2805+15C>T |
single nucleotide variant |
not provided [RCV003557977] |
Chr2:43925878 [GRCh38]
Chr2:44153017 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3189T>C (p.Ile1063=) |
single nucleotide variant |
not provided [RCV003813776] |
Chr2:43912518 [GRCh38]
Chr2:44139657 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1583-10T>G |
single nucleotide variant |
not provided [RCV003699554] |
Chr2:43957461 [GRCh38]
Chr2:44184600 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3909T>C (p.Thr1303=) |
single nucleotide variant |
not provided [RCV003663782] |
Chr2:43894621 [GRCh38]
Chr2:44121760 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.168C>T (p.Ala56=) |
single nucleotide variant |
not provided [RCV003559571] |
Chr2:43982416 [GRCh38]
Chr2:44209555 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4128+20G>T |
single nucleotide variant |
not provided [RCV003663698] |
Chr2:43889714 [GRCh38]
Chr2:44116853 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2805+20G>A |
single nucleotide variant |
not provided [RCV003664671] |
Chr2:43925873 [GRCh38]
Chr2:44153012 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2064G>C (p.Val688=) |
single nucleotide variant |
not provided [RCV003864725] |
Chr2:43947272 [GRCh38]
Chr2:44174411 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.888C>G (p.Ser296=) |
single nucleotide variant |
not provided [RCV003567550] |
Chr2:43974735 [GRCh38]
Chr2:44201874 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.147C>A (p.Ala49=) |
single nucleotide variant |
not provided [RCV003703916] |
Chr2:43995801 [GRCh38]
Chr2:44222940 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.540A>G (p.Ser180=) |
single nucleotide variant |
not provided [RCV003678623] |
Chr2:43977206 [GRCh38]
Chr2:44204345 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+7A>G |
single nucleotide variant |
not provided [RCV003858354] |
Chr2:43976987 [GRCh38]
Chr2:44204126 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3825+11T>C |
single nucleotide variant |
not provided [RCV003709112] |
Chr2:43899208 [GRCh38]
Chr2:44126347 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2805+11G>T |
single nucleotide variant |
not provided [RCV003678737] |
Chr2:43925882 [GRCh38]
Chr2:44153021 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2046A>G (p.Leu682=) |
single nucleotide variant |
not provided [RCV003731928] |
Chr2:43947290 [GRCh38]
Chr2:44174429 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.93G>A (p.Pro31=) |
single nucleotide variant |
not provided [RCV003555221] |
Chr2:43995855 [GRCh38]
Chr2:44222994 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1842+19C>A |
single nucleotide variant |
not provided [RCV003562431] |
Chr2:43948393 [GRCh38]
Chr2:44175532 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3148+19G>C |
single nucleotide variant |
not provided [RCV003563550] |
Chr2:43918006 [GRCh38]
Chr2:44145145 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1842+9T>G |
single nucleotide variant |
not provided [RCV003847664] |
Chr2:43948403 [GRCh38]
Chr2:44175542 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1611G>A (p.Leu537=) |
single nucleotide variant |
not provided [RCV003679513] |
Chr2:43957423 [GRCh38]
Chr2:44184562 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1188G>A (p.Lys396=) |
single nucleotide variant |
not provided [RCV003683269] |
Chr2:43973868 [GRCh38]
Chr2:44201007 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2838A>G (p.Thr946=) |
single nucleotide variant |
not provided [RCV003736121] |
Chr2:43925125 [GRCh38]
Chr2:44152264 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1527A>G (p.Gln509=) |
single nucleotide variant |
not provided [RCV003729383] |
Chr2:43960596 [GRCh38]
Chr2:44187735 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3039+11T>C |
single nucleotide variant |
not provided [RCV003567884] |
Chr2:43918245 [GRCh38]
Chr2:44145384 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2079+15A>C |
single nucleotide variant |
not provided [RCV003858583] |
Chr2:43947242 [GRCh38]
Chr2:44174381 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2217C>G (p.Arg739=) |
single nucleotide variant |
not provided [RCV003679794] |
Chr2:43945411 [GRCh38]
Chr2:44172550 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2205A>G (p.Glu735=) |
single nucleotide variant |
not provided [RCV003853623] |
Chr2:43946118 [GRCh38]
Chr2:44173257 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.816A>C (p.Ala272=) |
single nucleotide variant |
not provided [RCV003675036] |
Chr2:43975139 [GRCh38]
Chr2:44202278 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3275+13C>G |
single nucleotide variant |
not provided [RCV003675801] |
Chr2:43912419 [GRCh38]
Chr2:44139558 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3148+11A>T |
single nucleotide variant |
not provided [RCV003706436] |
Chr2:43918014 [GRCh38]
Chr2:44145153 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.346+15C>T |
single nucleotide variant |
not provided [RCV003846785] |
Chr2:43982223 [GRCh38]
Chr2:44209362 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2211-12T>C |
single nucleotide variant |
not provided [RCV003732513] |
Chr2:43945429 [GRCh38]
Chr2:44172568 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3681G>A (p.Glu1227=) |
single nucleotide variant |
not provided [RCV003860268] |
Chr2:43899494 [GRCh38]
Chr2:44126633 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3569+19T>C |
single nucleotide variant |
not provided [RCV003707035] |
Chr2:43901301 [GRCh38]
Chr2:44128440 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-19_4129-18del |
microsatellite |
not provided [RCV003731421] |
Chr2:43888674..43888675 [GRCh38]
Chr2:44115813..44115814 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+18_149+29del |
deletion |
not provided [RCV003734965] |
Chr2:43995770..43995781 [GRCh38]
Chr2:44222909..44222920 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2806-20C>A |
single nucleotide variant |
not provided [RCV003862383] |
Chr2:43925177 [GRCh38]
Chr2:44152316 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-3_739del |
deletion |
not provided [RCV003568224] |
Chr2:43975216..43975220 [GRCh38]
Chr2:44202355..44202359 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3132A>G (p.Arg1044=) |
single nucleotide variant |
not provided [RCV003733172] |
Chr2:43918041 [GRCh38]
Chr2:44145180 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3039+12del |
deletion |
not provided [RCV003824124] |
Chr2:43918244 [GRCh38]
Chr2:44145383 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2297-11C>T |
single nucleotide variant |
not provided [RCV003852958] |
Chr2:43943905 [GRCh38]
Chr2:44171044 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1735+16C>T |
single nucleotide variant |
not provided [RCV003555579] |
Chr2:43949586 [GRCh38]
Chr2:44176725 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.312T>C (p.Leu104=) |
single nucleotide variant |
not provided [RCV003674372] |
Chr2:43982272 [GRCh38]
Chr2:44209411 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3321del (p.Asn1107fs) |
deletion |
not provided [RCV003555702] |
Chr2:43905735 [GRCh38]
Chr2:44132874 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1965+9G>A |
single nucleotide variant |
not provided [RCV003736152] |
Chr2:43947722 [GRCh38]
Chr2:44174861 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4005A>T (p.Thr1335=) |
single nucleotide variant |
not provided [RCV003563044] |
Chr2:43889857 [GRCh38]
Chr2:44116996 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-15G>C |
single nucleotide variant |
not provided [RCV003860083] |
Chr2:43976244 [GRCh38]
Chr2:44203383 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.865-6C>G |
single nucleotide variant |
not provided [RCV003733012] |
Chr2:43974764 [GRCh38]
Chr2:44201903 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1489-13G>A |
single nucleotide variant |
not provided [RCV003683224] |
Chr2:43960647 [GRCh38]
Chr2:44187786 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3825+15C>G |
single nucleotide variant |
not provided [RCV003707335] |
Chr2:43899204 [GRCh38]
Chr2:44126343 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3149-7C>T |
single nucleotide variant |
not provided [RCV003728249] |
Chr2:43912565 [GRCh38]
Chr2:44139704 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1678-13T>G |
single nucleotide variant |
not provided [RCV003734100] |
Chr2:43949672 [GRCh38]
Chr2:44176811 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3687G>A (p.Gln1229=) |
single nucleotide variant |
not provided [RCV003680584] |
Chr2:43899488 [GRCh38]
Chr2:44126627 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.651-18T>G |
single nucleotide variant |
not provided [RCV003819120] |
Chr2:43976247 [GRCh38]
Chr2:44203386 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.438T>A (p.Ala146=) |
single nucleotide variant |
not provided [RCV003706945] |
Chr2:43979857 [GRCh38]
Chr2:44206996 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.48G>T (p.Ala16=) |
single nucleotide variant |
not provided [RCV003567269] |
Chr2:43995900 [GRCh38]
Chr2:44223039 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.297C>T (p.Arg99=) |
single nucleotide variant |
not provided [RCV003568395] |
Chr2:43982287 [GRCh38]
Chr2:44209426 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1596A>G (p.Thr532=) |
single nucleotide variant |
not provided [RCV003847261] |
Chr2:43957438 [GRCh38]
Chr2:44184577 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.347-17T>C |
single nucleotide variant |
not provided [RCV003822504] |
Chr2:43979965 [GRCh38]
Chr2:44207104 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3108G>A (p.Gln1036=) |
single nucleotide variant |
not provided [RCV003564150] |
Chr2:43918065 [GRCh38]
Chr2:44145204 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2896+11T>C |
single nucleotide variant |
not provided [RCV003551599] |
Chr2:43925056 [GRCh38]
Chr2:44152195 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2737-16T>C |
single nucleotide variant |
not provided [RCV003819081] |
Chr2:43925977 [GRCh38]
Chr2:44153116 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.714T>G (p.Leu238=) |
single nucleotide variant |
not provided [RCV003685750] |
Chr2:43976166 [GRCh38]
Chr2:44203305 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1369+18A>G |
single nucleotide variant |
not provided [RCV003685013] |
Chr2:43973589 [GRCh38]
Chr2:44200728 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+17T>C |
single nucleotide variant |
not provided [RCV003678295] |
Chr2:43946096 [GRCh38]
Chr2:44173235 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+18T>A |
single nucleotide variant |
not provided [RCV003680275] |
Chr2:43995781 [GRCh38]
Chr2:44222920 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1921-15A>C |
single nucleotide variant |
not provided [RCV003555512] |
Chr2:43947790 [GRCh38]
Chr2:44174929 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3391T>C (p.Leu1131=) |
single nucleotide variant |
not provided [RCV003719264] |
Chr2:43901498 [GRCh38]
Chr2:44128637 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.459T>G (p.Leu153=) |
single nucleotide variant |
not provided [RCV003721033] |
Chr2:43979836 [GRCh38]
Chr2:44206975 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2296+13A>C |
single nucleotide variant |
not provided [RCV003722110] |
Chr2:43945319 [GRCh38]
Chr2:44172458 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2124C>T (p.Asp708=) |
single nucleotide variant |
not provided [RCV003704846] |
Chr2:43946199 [GRCh38]
Chr2:44173338 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3276-12dup |
duplication |
not provided [RCV003720475] |
Chr2:43905791..43905792 [GRCh38]
Chr2:44132930..44132931 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1233C>T (p.Leu411=) |
single nucleotide variant |
not provided [RCV003846981] |
Chr2:43973823 [GRCh38]
Chr2:44200962 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2080-16C>T |
single nucleotide variant |
not provided [RCV003555759] |
Chr2:43946259 [GRCh38]
Chr2:44173398 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2682C>G (p.Leu894=) |
single nucleotide variant |
not provided [RCV003841868] |
Chr2:43934244 [GRCh38]
Chr2:44161383 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1842+11G>A |
single nucleotide variant |
not provided [RCV003729631] |
Chr2:43948401 [GRCh38]
Chr2:44175540 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-20C>G |
single nucleotide variant |
not provided [RCV003566372] |
Chr2:43899354 [GRCh38]
Chr2:44126493 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.297C>A (p.Arg99=) |
single nucleotide variant |
not provided [RCV003680582] |
Chr2:43982287 [GRCh38]
Chr2:44209426 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.150-14G>T |
single nucleotide variant |
not provided [RCV003719420] |
Chr2:43982448 [GRCh38]
Chr2:44209587 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1962A>G (p.Gln654=) |
single nucleotide variant |
not provided [RCV003677248] |
Chr2:43947734 [GRCh38]
Chr2:44174873 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2277A>G (p.Ala759=) |
single nucleotide variant |
not provided [RCV003737037] |
Chr2:43945351 [GRCh38]
Chr2:44172490 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1328G>A (p.Trp443Ter) |
single nucleotide variant |
not provided [RCV003720960] |
Chr2:43973648 [GRCh38]
Chr2:44200787 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1179C>T (p.Tyr393=) |
single nucleotide variant |
not provided [RCV003857090] |
Chr2:43973877 [GRCh38]
Chr2:44201016 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2736+20G>A |
single nucleotide variant |
not provided [RCV003733499] |
Chr2:43934170 [GRCh38]
Chr2:44161309 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3569+20_3569+22del |
microsatellite |
not provided [RCV003735617] |
Chr2:43901298..43901300 [GRCh38]
Chr2:44128437..44128439 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1488+13G>A |
single nucleotide variant |
not provided [RCV003735627] |
Chr2:43963575 [GRCh38]
Chr2:44190714 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2297-4G>T |
single nucleotide variant |
not provided [RCV003822966] |
Chr2:43943898 [GRCh38]
Chr2:44171037 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2211-13C>G |
single nucleotide variant |
not provided [RCV003719131] |
Chr2:43945430 [GRCh38]
Chr2:44172569 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1896C>T (p.Ser632=) |
single nucleotide variant |
not provided [RCV003565153] |
Chr2:43948146 [GRCh38]
Chr2:44175285 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2897-10A>C |
single nucleotide variant |
not provided [RCV003731646] |
Chr2:43918408 [GRCh38]
Chr2:44145547 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+13A>G |
single nucleotide variant |
not provided [RCV003733888] |
Chr2:43976981 [GRCh38]
Chr2:44204120 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-18C>T |
single nucleotide variant |
not provided [RCV003733907] |
Chr2:43947388 [GRCh38]
Chr2:44174527 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3985+20A>C |
single nucleotide variant |
not provided [RCV003684829] |
Chr2:43894525 [GRCh38]
Chr2:44121664 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1746C>A (p.Gly582=) |
single nucleotide variant |
not provided [RCV003684198] |
Chr2:43948508 [GRCh38]
Chr2:44175647 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1489-15A>T |
single nucleotide variant |
not provided [RCV003728823] |
Chr2:43960649 [GRCh38]
Chr2:44187788 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+15C>A |
single nucleotide variant |
not provided [RCV003737640] |
Chr2:43995784 [GRCh38]
Chr2:44222923 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-15C>A |
single nucleotide variant |
not provided [RCV003737695] |
Chr2:43899349 [GRCh38]
Chr2:44126488 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3105C>T (p.Phe1035=) |
single nucleotide variant |
not provided [RCV003564151] |
Chr2:43918068 [GRCh38]
Chr2:44145207 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1369+19C>G |
single nucleotide variant |
not provided [RCV003823560] |
Chr2:43973588 [GRCh38]
Chr2:44200727 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2805+17G>T |
single nucleotide variant |
not provided [RCV003683416] |
Chr2:43925876 [GRCh38]
Chr2:44153015 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2080-19C>T |
single nucleotide variant |
not provided [RCV003871846] |
Chr2:43946262 [GRCh38]
Chr2:44173401 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.18A>G (p.Arg6=) |
single nucleotide variant |
not provided [RCV003842802] |
Chr2:43995930 [GRCh38]
Chr2:44223069 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3148+17A>C |
single nucleotide variant |
not provided [RCV003711164] |
Chr2:43918008 [GRCh38]
Chr2:44145147 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2244C>G (p.Thr748=) |
single nucleotide variant |
not provided [RCV003867049] |
Chr2:43945384 [GRCh38]
Chr2:44172523 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.650+18C>T |
single nucleotide variant |
not provided [RCV003718829] |
Chr2:43976976 [GRCh38]
Chr2:44204115 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2896+14C>G |
single nucleotide variant |
not provided [RCV003685461] |
Chr2:43925053 [GRCh38]
Chr2:44152192 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3987C>A (p.Val1329=) |
single nucleotide variant |
not provided [RCV003869124] |
Chr2:43889875 [GRCh38]
Chr2:44117014 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.477G>A (p.Val159=) |
single nucleotide variant |
not provided [RCV003685022] |
Chr2:43977269 [GRCh38]
Chr2:44204408 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3569+12C>G |
single nucleotide variant |
not provided [RCV003818945] |
Chr2:43901308 [GRCh38]
Chr2:44128447 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3040-20A>G |
single nucleotide variant |
not provided [RCV003684687] |
Chr2:43918153 [GRCh38]
Chr2:44145292 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2050C>T (p.Gln684Ter) |
single nucleotide variant |
not provided [RCV003681922] |
Chr2:43947286 [GRCh38]
Chr2:44174425 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2178A>G (p.Lys726=) |
single nucleotide variant |
not provided [RCV003719893] |
Chr2:43946145 [GRCh38]
Chr2:44173284 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-13G>C |
single nucleotide variant |
not provided [RCV003730717] |
Chr2:43899347 [GRCh38]
Chr2:44126486 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1678-17A>C |
single nucleotide variant |
not provided [RCV003555207] |
Chr2:43949676 [GRCh38]
Chr2:44176815 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.906C>T (p.Asp302=) |
single nucleotide variant |
not provided [RCV003686025] |
Chr2:43974717 [GRCh38]
Chr2:44201856 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3018A>G (p.Glu1006=) |
single nucleotide variant |
LRPPRC-related disorder [RCV004731560]|not provided [RCV003719115] |
Chr2:43918277 [GRCh38]
Chr2:44145416 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3612T>A (p.Leu1204=) |
single nucleotide variant |
not provided [RCV003707733] |
Chr2:43899563 [GRCh38]
Chr2:44126702 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2736+17A>G |
single nucleotide variant |
not provided [RCV003732927] |
Chr2:43934173 [GRCh38]
Chr2:44161312 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-18C>G |
single nucleotide variant |
not provided [RCV003719849] |
Chr2:43947388 [GRCh38]
Chr2:44174527 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.352C>T (p.Leu118=) |
single nucleotide variant |
not provided [RCV003674516] |
Chr2:43979943 [GRCh38]
Chr2:44207082 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+15A>G |
single nucleotide variant |
not provided [RCV003707711] |
Chr2:43974599 [GRCh38]
Chr2:44201738 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1261+16dup |
duplication |
not provided [RCV003731126] |
Chr2:43973778..43973779 [GRCh38]
Chr2:44200917..44200918 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+9A>T |
single nucleotide variant |
not provided [RCV003684947] |
Chr2:43974605 [GRCh38]
Chr2:44201744 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3276-2A>G |
single nucleotide variant |
not provided [RCV003670799] |
Chr2:43905782 [GRCh38]
Chr2:44132921 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1678-4C>T |
single nucleotide variant |
not provided [RCV003707857] |
Chr2:43949663 [GRCh38]
Chr2:44176802 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3114T>C (p.Asp1038=) |
single nucleotide variant |
not provided [RCV003557581] |
Chr2:43918059 [GRCh38]
Chr2:44145198 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2832G>A (p.Glu944=) |
single nucleotide variant |
not provided [RCV003705115] |
Chr2:43925131 [GRCh38]
Chr2:44152270 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2736+16C>T |
single nucleotide variant |
not provided [RCV003677313] |
Chr2:43934174 [GRCh38]
Chr2:44161313 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+17T>A |
single nucleotide variant |
not provided [RCV003863822] |
Chr2:43995782 [GRCh38]
Chr2:44222921 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.737+11A>G |
single nucleotide variant |
not provided [RCV003869830] |
Chr2:43976132 [GRCh38]
Chr2:44203271 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1582+13C>T |
single nucleotide variant |
not provided [RCV003737563] |
Chr2:43960528 [GRCh38]
Chr2:44187667 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3826-15T>C |
single nucleotide variant |
not provided [RCV003720472] |
Chr2:43896723 [GRCh38]
Chr2:44123862 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.469+11T>A |
single nucleotide variant |
not provided [RCV003870364] |
Chr2:43979815 [GRCh38]
Chr2:44206954 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1156-16G>C |
single nucleotide variant |
not provided [RCV003728593] |
Chr2:43973916 [GRCh38]
Chr2:44201055 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-14G>T |
single nucleotide variant |
not provided [RCV003853791] |
Chr2:43975231 [GRCh38]
Chr2:44202370 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+14C>A |
single nucleotide variant |
not provided [RCV003735973] |
Chr2:43995785 [GRCh38]
Chr2:44222924 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1677+17T>C |
single nucleotide variant |
not provided [RCV003870418] |
Chr2:43950556 [GRCh38]
Chr2:44177695 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1155+11C>T |
single nucleotide variant |
not provided [RCV003721596] |
Chr2:43974139 [GRCh38]
Chr2:44201278 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-12T>C |
single nucleotide variant |
not provided [RCV003737721] |
Chr2:43888668 [GRCh38]
Chr2:44115807 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1843-12C>G |
single nucleotide variant |
not provided [RCV003722240] |
Chr2:43948211 [GRCh38]
Chr2:44175350 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1920+18A>G |
single nucleotide variant |
not provided [RCV003562805] |
Chr2:43948104 [GRCh38]
Chr2:44175243 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2211-9A>G |
single nucleotide variant |
not provided [RCV003677696] |
Chr2:43945426 [GRCh38]
Chr2:44172565 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2297-7A>T |
single nucleotide variant |
not provided [RCV003683550] |
Chr2:43943901 [GRCh38]
Chr2:44171040 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1736-2A>T |
single nucleotide variant |
not provided [RCV003684624] |
Chr2:43948520 [GRCh38]
Chr2:44175659 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1142_1143del (p.Val381fs) |
microsatellite |
not provided [RCV003551102] |
Chr2:43974162..43974163 [GRCh38]
Chr2:44201301..44201302 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3702T>C (p.Val1234=) |
single nucleotide variant |
not provided [RCV003567094] |
Chr2:43899473 [GRCh38]
Chr2:44126612 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2110A>T (p.Lys704Ter) |
single nucleotide variant |
not provided [RCV003567021] |
Chr2:43946213 [GRCh38]
Chr2:44173352 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.3365-12C>T |
single nucleotide variant |
not provided [RCV003733552] |
Chr2:43901536 [GRCh38]
Chr2:44128675 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-20C>G |
single nucleotide variant |
not provided [RCV003734516] |
Chr2:43934898 [GRCh38]
Chr2:44162037 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2296+19A>G |
single nucleotide variant |
not provided [RCV003734528] |
Chr2:43945313 [GRCh38]
Chr2:44172452 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3471C>T (p.Asn1157=) |
single nucleotide variant |
not provided [RCV003563146] |
Chr2:43901418 [GRCh38]
Chr2:44128557 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+20A>C |
single nucleotide variant |
not provided [RCV003852838] |
Chr2:43975071 [GRCh38]
Chr2:44202210 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-19T>A |
single nucleotide variant |
not provided [RCV003555609] |
Chr2:43934315 [GRCh38]
Chr2:44161454 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2630-9C>G |
single nucleotide variant |
not provided [RCV003823435] |
Chr2:43934305 [GRCh38]
Chr2:44161444 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+15del |
deletion |
not provided [RCV003857853] |
Chr2:43974599 [GRCh38]
Chr2:44201738 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.2859T>C (p.Asp953=) |
single nucleotide variant |
not provided [RCV003682434] |
Chr2:43925104 [GRCh38]
Chr2:44152243 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.150-3dup |
duplication |
not provided [RCV003556935] |
Chr2:43982436..43982437 [GRCh38]
Chr2:44209575..44209576 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3066C>A (p.Ser1022=) |
single nucleotide variant |
not provided [RCV003710135] |
Chr2:43918107 [GRCh38]
Chr2:44145246 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+20T>G |
single nucleotide variant |
not provided [RCV003552699] |
Chr2:43974594 [GRCh38]
Chr2:44201733 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.984T>G (p.Val328=) |
single nucleotide variant |
not provided [RCV003862308] |
Chr2:43974639 [GRCh38]
Chr2:44201778 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2297-15G>A |
single nucleotide variant |
not provided [RCV003670527] |
Chr2:43943909 [GRCh38]
Chr2:44171048 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1735+17G>A |
single nucleotide variant |
not provided [RCV003735692] |
Chr2:43949585 [GRCh38]
Chr2:44176724 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1009+12A>G |
single nucleotide variant |
not provided [RCV003706176] |
Chr2:43974602 [GRCh38]
Chr2:44201741 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-7C>T |
single nucleotide variant |
not provided [RCV003844208] |
Chr2:43973721 [GRCh38]
Chr2:44200860 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3570-12del |
deletion |
not provided [RCV003554481] |
Chr2:43899617 [GRCh38]
Chr2:44126756 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.1966-19T>C |
single nucleotide variant |
not provided [RCV003562157] |
Chr2:43947389 [GRCh38]
Chr2:44174528 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1736-13T>C |
single nucleotide variant |
not provided [RCV003565752] |
Chr2:43948531 [GRCh38]
Chr2:44175670 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3365-11T>C |
single nucleotide variant |
not provided [RCV003552952] |
Chr2:43901535 [GRCh38]
Chr2:44128674 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1010-15T>G |
single nucleotide variant |
not provided [RCV003562349] |
Chr2:43974310 [GRCh38]
Chr2:44201449 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1890G>A (p.Leu630=) |
single nucleotide variant |
not provided [RCV003864113] |
Chr2:43948152 [GRCh38]
Chr2:44175291 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3986-11C>T |
single nucleotide variant |
not provided [RCV003566264] |
Chr2:43889887 [GRCh38]
Chr2:44117026 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3090C>G (p.Thr1030=) |
single nucleotide variant |
not provided [RCV003866134] |
Chr2:43918083 [GRCh38]
Chr2:44145222 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1155+12A>C |
single nucleotide variant |
not provided [RCV003729647] |
Chr2:43974138 [GRCh38]
Chr2:44201277 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2805+11_2805+12insT |
insertion |
not provided [RCV003678736] |
Chr2:43925881..43925882 [GRCh38]
Chr2:44153020..44153021 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1921-8A>C |
single nucleotide variant |
not provided [RCV003709269] |
Chr2:43947783 [GRCh38]
Chr2:44174922 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3276-14T>A |
single nucleotide variant |
not provided [RCV003728503] |
Chr2:43905794 [GRCh38]
Chr2:44132933 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3148+18T>G |
single nucleotide variant |
not provided [RCV003675771] |
Chr2:43918007 [GRCh38]
Chr2:44145146 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1920+7G>A |
single nucleotide variant |
not provided [RCV003712273] |
Chr2:43948115 [GRCh38]
Chr2:44175254 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1156-15A>G |
single nucleotide variant |
not provided [RCV003729746] |
Chr2:43973915 [GRCh38]
Chr2:44201054 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3181C>T (p.Gln1061Ter) |
single nucleotide variant |
not provided [RCV003565112] |
Chr2:43912526 [GRCh38]
Chr2:44139665 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.597A>G (p.Thr199=) |
single nucleotide variant |
not provided [RCV003552099] |
Chr2:43977047 [GRCh38]
Chr2:44204186 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.864+14C>G |
single nucleotide variant |
not provided [RCV003730922] |
Chr2:43975077 [GRCh38]
Chr2:44202216 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1185G>A (p.Lys395=) |
single nucleotide variant |
not provided [RCV003676270] |
Chr2:43973871 [GRCh38]
Chr2:44201010 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2433C>T (p.Ala811=) |
single nucleotide variant |
not provided [RCV003706473] |
Chr2:43943758 [GRCh38]
Chr2:44170897 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3615T>C (p.Thr1205=) |
single nucleotide variant |
not provided [RCV003729915] |
Chr2:43899560 [GRCh38]
Chr2:44126699 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4129-19C>A |
single nucleotide variant |
not provided [RCV003706475] |
Chr2:43888675 [GRCh38]
Chr2:44115814 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-18_1966-14del |
microsatellite |
not provided [RCV003735995] |
Chr2:43947384..43947388 [GRCh38]
Chr2:44174523..44174527 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2505-2A>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005030084]|not provided [RCV003550625] |
Chr2:43934880 [GRCh38]
Chr2:44162019 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2630-29AT[6] |
microsatellite |
not provided [RCV003734171] |
Chr2:43934315..43934316 [GRCh38]
Chr2:44161454..44161455 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-1G>A |
single nucleotide variant |
not provided [RCV003705692] |
Chr2:43899335 [GRCh38]
Chr2:44126474 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3553T>C (p.Leu1185=) |
single nucleotide variant |
not provided [RCV003552499] |
Chr2:43901336 [GRCh38]
Chr2:44128475 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2088A>G (p.Gln696=) |
single nucleotide variant |
not provided [RCV003675020] |
Chr2:43946235 [GRCh38]
Chr2:44173374 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1921-17T>G |
single nucleotide variant |
not provided [RCV003563949] |
Chr2:43947792 [GRCh38]
Chr2:44174931 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.469+18T>C |
single nucleotide variant |
not provided [RCV003859000] |
Chr2:43979808 [GRCh38]
Chr2:44206947 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.470-16T>A |
single nucleotide variant |
not provided [RCV003564176] |
Chr2:43977292 [GRCh38]
Chr2:44204431 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.57C>T (p.Arg19=) |
single nucleotide variant |
not provided [RCV003854072] |
Chr2:43995891 [GRCh38]
Chr2:44223030 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-18T>A |
single nucleotide variant |
not provided [RCV003736128] |
Chr2:43899352 [GRCh38]
Chr2:44126491 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3825+19T>C |
single nucleotide variant |
not provided [RCV003736113] |
Chr2:43899200 [GRCh38]
Chr2:44126339 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+13A>G |
single nucleotide variant |
not provided [RCV003842634] |
Chr2:43957372 [GRCh38]
Chr2:44184511 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1881T>C (p.Arg627=) |
single nucleotide variant |
not provided [RCV003705531] |
Chr2:43948161 [GRCh38]
Chr2:44175300 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2080-14A>T |
single nucleotide variant |
not provided [RCV003706783] |
Chr2:43946257 [GRCh38]
Chr2:44173396 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+7T>C |
single nucleotide variant |
not provided [RCV003821469] |
Chr2:43957378 [GRCh38]
Chr2:44184517 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-16T>G |
single nucleotide variant |
not provided [RCV003736129] |
Chr2:43947386 [GRCh38]
Chr2:44174525 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2806-20C>G |
single nucleotide variant |
not provided [RCV003711018] |
Chr2:43925177 [GRCh38]
Chr2:44152316 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1262-13A>T |
single nucleotide variant |
not provided [RCV003736249] |
Chr2:43973727 [GRCh38]
Chr2:44200866 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2232_2247del (p.Val745fs) |
deletion |
not provided [RCV003552169] |
Chr2:43945381..43945396 [GRCh38]
Chr2:44172520..44172535 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.2210+8C>A |
single nucleotide variant |
not provided [RCV003709794] |
Chr2:43946105 [GRCh38]
Chr2:44173244 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.621T>A (p.Tyr207Ter) |
single nucleotide variant |
not provided [RCV003553722] |
Chr2:43977023 [GRCh38]
Chr2:44204162 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.4128+17T>C |
single nucleotide variant |
not provided [RCV003708290] |
Chr2:43889717 [GRCh38]
Chr2:44116856 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.738-14G>C |
single nucleotide variant |
not provided [RCV003845440] |
Chr2:43975231 [GRCh38]
Chr2:44202370 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3149-2A>G |
single nucleotide variant |
not provided [RCV003552392] |
Chr2:43912560 [GRCh38]
Chr2:44139699 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1736-2A>G |
single nucleotide variant |
not provided [RCV003711163] |
Chr2:43948520 [GRCh38]
Chr2:44175659 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1764G>A (p.Leu588=) |
single nucleotide variant |
not provided [RCV003562945] |
Chr2:43948490 [GRCh38]
Chr2:44175629 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.149+20C>T |
single nucleotide variant |
not provided [RCV003820395] |
Chr2:43995779 [GRCh38]
Chr2:44222918 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3787G>A (p.Asp1263Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004413259] |
Chr2:43899257 [GRCh38]
Chr2:44126396 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.397C>G (p.Leu133Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004413260] |
Chr2:43979898 [GRCh38]
Chr2:44207037 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.692C>G (p.Thr231Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004413261]|not provided [RCV004588537] |
Chr2:43976188 [GRCh38]
Chr2:44203327 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.717G>C (p.Val239=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003949661] |
Chr2:43976163 [GRCh38]
Chr2:44203302 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3249T>C (p.Phe1083=) |
single nucleotide variant |
LRPPRC-related disorder [RCV003969378] |
Chr2:43912458 [GRCh38]
Chr2:44139597 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2106del (p.Ala703fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV003990827] |
Chr2:43946217 [GRCh38]
Chr2:44173356 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3275+1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004527105] |
Chr2:43912431 [GRCh38]
Chr2:44139570 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1252A>G (p.Asn418Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004413248] |
Chr2:43973804 [GRCh38]
Chr2:44200943 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1289T>C (p.Val430Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004413249] |
Chr2:43973687 [GRCh38]
Chr2:44200826 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1712G>A (p.Cys571Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004413251] |
Chr2:43949625 [GRCh38]
Chr2:44176764 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1804G>C (p.Glu602Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004413252] |
Chr2:43948450 [GRCh38]
Chr2:44175589 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1928A>C (p.His643Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004413253] |
Chr2:43947768 [GRCh38]
Chr2:44174907 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2014A>G (p.Lys672Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004413254] |
Chr2:43947322 [GRCh38]
Chr2:44174461 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2188G>T (p.Ala730Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004413255] |
Chr2:43946135 [GRCh38]
Chr2:44173274 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3259A>G (p.Met1087Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004413256] |
Chr2:43912448 [GRCh38]
Chr2:44139587 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3373A>G (p.Thr1125Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004413257] |
Chr2:43901516 [GRCh38]
Chr2:44128655 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3456G>C (p.Lys1152Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004413258] |
Chr2:43901433 [GRCh38]
Chr2:44128572 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.14_47delinsCTCAG (p.Leu5fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576814] |
Chr2:43995901..43995934 [GRCh38]
Chr2:44223040..44223073 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3778C>T (p.Gln1260Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576815] |
Chr2:43899266 [GRCh38]
Chr2:44126405 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3446T>A (p.Leu1149Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576817] |
Chr2:43901443 [GRCh38]
Chr2:44128582 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1758T>G (p.Tyr586Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576808] |
Chr2:43948496 [GRCh38]
Chr2:44175635 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3985+1G>T |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576811] |
Chr2:43894544 [GRCh38]
Chr2:44121683 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.683_684del (p.Leu228fs) |
microsatellite |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576813] |
Chr2:43976196..43976197 [GRCh38]
Chr2:44203335..44203336 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3825+1G>A |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576816] |
Chr2:43899218 [GRCh38]
Chr2:44126357 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3706A>T (p.Lys1236Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576809] |
Chr2:43899469 [GRCh38]
Chr2:44126608 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.4023T>G (p.Tyr1341Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576810] |
Chr2:43889839 [GRCh38]
Chr2:44116978 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.356_362del (p.Gly119fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004576812] |
Chr2:43979933..43979939 [GRCh38]
Chr2:44207072..44207078 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1759A>C (p.Asn587His) |
single nucleotide variant |
Inborn genetic diseases [RCV004644610] |
Chr2:43948495 [GRCh38]
Chr2:44175634 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44161309)_(44162037_?)dup |
duplication |
not provided [RCV004583868] |
Chr2:44161309..44162037 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NC_000002.11:g.(?_44115739)_(44223086_?)del |
deletion |
not provided [RCV004583863] |
Chr2:44115739..44223086 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44001278)_(45236249_?)del |
deletion |
Holoprosencephaly 2 [RCV004582516] |
Chr2:44001278..45236249 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44152186)_(44153120_?)del |
deletion |
not provided [RCV004583865] |
Chr2:44152186..44153120 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1240G>C (p.Ala414Pro) |
single nucleotide variant |
not provided [RCV004697755] |
Chr2:43973816 [GRCh38]
Chr2:44200955 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2011C>A (p.Leu671Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004644614] |
Chr2:43947325 [GRCh38]
Chr2:44174464 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3338C>T (p.Thr1113Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004644615] |
Chr2:43905718 [GRCh38]
Chr2:44132857 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3064T>C (p.Ser1022Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004634157] |
Chr2:43918109 [GRCh38]
Chr2:44145248 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3664T>C (p.Phe1222Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004644611] |
Chr2:43899511 [GRCh38]
Chr2:44126650 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3632T>G (p.Ile1211Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004644612] |
Chr2:43899543 [GRCh38]
Chr2:44126682 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.184G>T (p.Ala62Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004644613] |
Chr2:43982400 [GRCh38]
Chr2:44209539 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NC_000002.11:g.(?_44190707)_(44204435_?)del |
deletion |
not provided [RCV004583866] |
Chr2:44190707..44204435 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44200726)_(44203388_?)del |
deletion |
not provided [RCV004583867] |
Chr2:44200726..44203388 [GRCh37]
Chr2:2p21 |
pathogenic |
| NC_000002.11:g.(?_44161309)_(44162037_?)del |
deletion |
not provided [RCV004583864] |
Chr2:44161309..44162037 [GRCh37]
Chr2:2p21 |
pathogenic |
| NM_133259.4(LRPPRC):c.1370G>T (p.Gly457Val) |
single nucleotide variant |
not specified [RCV004703138] |
Chr2:43963706 [GRCh38]
Chr2:44190845 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1249G>T (p.Ala417Ser) |
single nucleotide variant |
not provided [RCV004778866] |
Chr2:43973807 [GRCh38]
Chr2:44200946 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3591A>G (p.Ile1197Met) |
single nucleotide variant |
not provided [RCV004722096] |
Chr2:43899584 [GRCh38]
Chr2:44126723 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1582+1329A>G |
single nucleotide variant |
not provided [RCV004810933] |
Chr2:43959212 [GRCh38]
Chr2:44186351 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3625A>G (p.Lys1209Glu) |
single nucleotide variant |
not provided [RCV004773475] |
Chr2:43899550 [GRCh38]
Chr2:44126689 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.910G>T (p.Asp304Tyr) |
single nucleotide variant |
not provided [RCV004773483] |
Chr2:43974713 [GRCh38]
Chr2:44201852 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3044G>C (p.Trp1015Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004987194]|not provided [RCV004722315] |
Chr2:43918129 [GRCh38]
Chr2:44145268 [GRCh37]
Chr2:2p21 |
likely benign|uncertain significance |
| NM_133259.4(LRPPRC):c.1729C>A (p.Pro577Thr) |
single nucleotide variant |
not provided [RCV004774184] |
Chr2:43949608 [GRCh38]
Chr2:44176747 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2816T>A (p.Leu939Gln) |
single nucleotide variant |
not provided [RCV004723926] |
Chr2:43925147 [GRCh38]
Chr2:44152286 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3364+2T>C |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV004766881] |
Chr2:43905690 [GRCh38]
Chr2:44132829 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2377C>G (p.Leu793Val) |
single nucleotide variant |
not provided [RCV004768394] |
Chr2:43943814 [GRCh38]
Chr2:44170953 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.7G>C (p.Ala3Pro) |
single nucleotide variant |
not provided [RCV004775854] |
Chr2:43995941 [GRCh38]
Chr2:44223080 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.897C>G (p.His299Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004988355] |
Chr2:43974726 [GRCh38]
Chr2:44201865 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3421G>T (p.Ala1141Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004988359] |
Chr2:43901468 [GRCh38]
Chr2:44128607 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.937A>G (p.Ser313Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004988363] |
Chr2:43974686 [GRCh38]
Chr2:44201825 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1541G>A (p.Ser514Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004988364] |
Chr2:43960582 [GRCh38]
Chr2:44187721 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1231C>A (p.Leu411Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004988346] |
Chr2:43973825 [GRCh38]
Chr2:44200964 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2407G>A (p.Glu803Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004988360] |
Chr2:43943784 [GRCh38]
Chr2:44170923 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3290T>C (p.Ile1097Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004988365] |
Chr2:43905766 [GRCh38]
Chr2:44132905 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3805G>C (p.Asp1269His) |
single nucleotide variant |
Inborn genetic diseases [RCV004988351] |
Chr2:43899239 [GRCh38]
Chr2:44126378 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2362T>C (p.Ser788Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004988367] |
Chr2:43943829 [GRCh38]
Chr2:44170968 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2433del (p.Ile812fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005026532] |
Chr2:43943758 [GRCh38]
Chr2:44170897 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.625A>T (p.Asn209Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004988341] |
Chr2:43977019 [GRCh38]
Chr2:44204158 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3769T>A (p.Phe1257Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004988342] |
Chr2:43899275 [GRCh38]
Chr2:44126414 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.10C>A (p.Leu4Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004988345] |
Chr2:43995938 [GRCh38]
Chr2:44223077 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1636C>A (p.Leu546Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004988348] |
Chr2:43957398 [GRCh38]
Chr2:44184537 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1842+50C>G |
single nucleotide variant |
Inborn genetic diseases [RCV004988349] |
Chr2:43948362 [GRCh38]
Chr2:44175501 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2601G>C (p.Glu867Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004988350] |
Chr2:43934782 [GRCh38]
Chr2:44161921 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4102G>A (p.Glu1368Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004988352] |
Chr2:43889760 [GRCh38]
Chr2:44116899 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2254G>A (p.Val752Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004988353] |
Chr2:43945374 [GRCh38]
Chr2:44172513 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1738G>A (p.Ala580Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004988354] |
Chr2:43948516 [GRCh38]
Chr2:44175655 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1770C>G (p.Asp590Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004988356] |
Chr2:43948484 [GRCh38]
Chr2:44175623 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3505G>A (p.Glu1169Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004988357] |
Chr2:43901384 [GRCh38]
Chr2:44128523 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2443C>G (p.Leu815Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004988358] |
Chr2:43943748 [GRCh38]
Chr2:44170887 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2881C>A (p.Leu961Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004988361] |
Chr2:43925082 [GRCh38]
Chr2:44152221 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3123T>G (p.Ile1041Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004988366] |
Chr2:43918050 [GRCh38]
Chr2:44145189 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.3623A>G (p.Asn1208Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004988347] |
Chr2:43899552 [GRCh38]
Chr2:44126691 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4000G>A (p.Val1334Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004988362] |
Chr2:43889862 [GRCh38]
Chr2:44117001 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1960C>T (p.Gln654Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005026534] |
Chr2:43947736 [GRCh38]
Chr2:44174875 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.414del (p.Lys138fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005026536] |
Chr2:43979881 [GRCh38]
Chr2:44207020 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3106C>T (p.Gln1036Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005026531] |
Chr2:43918067 [GRCh38]
Chr2:44145206 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.2369del (p.Phe790fs) |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005026533] |
Chr2:43943822 [GRCh38]
Chr2:44170961 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3098C>G (p.Pro1033Arg) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005023779]|Inborn genetic diseases [RCV004988343]|not provided [RCV005221188] |
Chr2:43918075 [GRCh38]
Chr2:44145214 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.703delinsAA (p.Phe235fs) |
indel |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005026535] |
Chr2:43976177 [GRCh38]
Chr2:44203316 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1748_1749dup (p.Phe584fs) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005038936] |
Chr2:43948504..43948505 [GRCh38]
Chr2:44175643..44175644 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.1670G>A (p.Trp557Ter) |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005038937] |
Chr2:43950580 [GRCh38]
Chr2:44177719 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.737+20T>G |
single nucleotide variant |
not provided [RCV005060575] |
Chr2:43976123 [GRCh38]
Chr2:44203262 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3588A>C (p.Ala1196=) |
single nucleotide variant |
not provided [RCV005062505] |
Chr2:43899587 [GRCh38]
Chr2:44126726 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+12A>G |
single nucleotide variant |
not provided [RCV005062303] |
Chr2:43957373 [GRCh38]
Chr2:44184512 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.334A>G (p.Thr112Ala) |
single nucleotide variant |
not provided [RCV005171095] |
Chr2:43982250 [GRCh38]
Chr2:44209389 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.4076dup (p.Tyr1359Ter) |
duplication |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005038933] |
Chr2:43889785..43889786 [GRCh38]
Chr2:44116924..44116925 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3986-2A>G |
single nucleotide variant |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005038934] |
Chr2:43889878 [GRCh38]
Chr2:44117017 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3710-1del |
deletion |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [RCV005038935] |
Chr2:43899335 [GRCh38]
Chr2:44126474 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3900+16T>C |
single nucleotide variant |
not provided [RCV005180545] |
Chr2:43896618 [GRCh38]
Chr2:44123757 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1677+4A>C |
single nucleotide variant |
not provided [RCV005202496] |
Chr2:43950569 [GRCh38]
Chr2:44177708 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2631A>G (p.Ala877=) |
single nucleotide variant |
not provided [RCV005070392] |
Chr2:43934295 [GRCh38]
Chr2:44161434 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3365-9G>A |
single nucleotide variant |
not provided [RCV005157139] |
Chr2:43901533 [GRCh38]
Chr2:44128672 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3009T>A (p.Gly1003=) |
single nucleotide variant |
not provided [RCV005127181] |
Chr2:43918286 [GRCh38]
Chr2:44145425 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3965A>G (p.Asn1322Ser) |
single nucleotide variant |
not provided [RCV005197860] |
Chr2:43894565 [GRCh38]
Chr2:44121704 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.1713C>T (p.Cys571=) |
single nucleotide variant |
not provided [RCV005119944] |
Chr2:43949624 [GRCh38]
Chr2:44176763 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-5del |
deletion |
not provided [RCV005120497] |
Chr2:43899339 [GRCh38]
Chr2:44126478 [GRCh37]
Chr2:2p21 |
benign |
| NM_133259.4(LRPPRC):c.3195T>C (p.Phe1065=) |
single nucleotide variant |
not provided [RCV005115242] |
Chr2:43912512 [GRCh38]
Chr2:44139651 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1649+8G>C |
single nucleotide variant |
not provided [RCV005115291] |
Chr2:43957377 [GRCh38]
Chr2:44184516 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3825+12C>G |
single nucleotide variant |
not provided [RCV005148631] |
Chr2:43899207 [GRCh38]
Chr2:44126346 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2210+16C>T |
single nucleotide variant |
not provided [RCV005187280] |
Chr2:43946097 [GRCh38]
Chr2:44173236 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1488+16G>C |
single nucleotide variant |
not provided [RCV005190541] |
Chr2:43963572 [GRCh38]
Chr2:44190711 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3549T>A (p.Ile1183=) |
single nucleotide variant |
not provided [RCV005168436] |
Chr2:43901340 [GRCh38]
Chr2:44128479 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1386C>G (p.Leu462=) |
single nucleotide variant |
not provided [RCV005068741] |
Chr2:43963690 [GRCh38]
Chr2:44190829 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.2737-17A>G |
single nucleotide variant |
not provided [RCV005165531] |
Chr2:43925978 [GRCh38]
Chr2:44153117 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.907C>T (p.Arg303Cys) |
single nucleotide variant |
not provided [RCV005191131] |
Chr2:43974716 [GRCh38]
Chr2:44201855 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.2211-13C>T |
single nucleotide variant |
not provided [RCV005163002] |
Chr2:43945430 [GRCh38]
Chr2:44172569 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.4005A>G (p.Thr1335=) |
single nucleotide variant |
not provided [RCV005115285] |
Chr2:43889857 [GRCh38]
Chr2:44116996 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.900T>C (p.Leu300=) |
single nucleotide variant |
not provided [RCV005120808] |
Chr2:43974723 [GRCh38]
Chr2:44201862 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1971G>A (p.Val657=) |
single nucleotide variant |
not provided [RCV005117990] |
Chr2:43947365 [GRCh38]
Chr2:44174504 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-3_1966-1del |
deletion |
not provided [RCV005118409] |
Chr2:43947371..43947373 [GRCh38]
Chr2:44174510..44174512 [GRCh37]
Chr2:2p21 |
likely pathogenic |
| NM_133259.4(LRPPRC):c.3570-18T>C |
single nucleotide variant |
not provided [RCV005118408] |
Chr2:43899623 [GRCh38]
Chr2:44126762 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3569+13A>G |
single nucleotide variant |
not provided [RCV005189273] |
Chr2:43901307 [GRCh38]
Chr2:44128446 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1966-9T>G |
single nucleotide variant |
not provided [RCV005082195] |
Chr2:43947379 [GRCh38]
Chr2:44174518 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1582+16T>A |
single nucleotide variant |
not provided [RCV005206430] |
Chr2:43960525 [GRCh38]
Chr2:44187664 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3907A>G (p.Thr1303Ala) |
single nucleotide variant |
not provided [RCV005206538] |
Chr2:43894623 [GRCh38]
Chr2:44121762 [GRCh37]
Chr2:2p21 |
uncertain significance |
| NM_133259.4(LRPPRC):c.470-8A>G |
single nucleotide variant |
not provided [RCV005155082] |
Chr2:43977284 [GRCh38]
Chr2:44204423 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.346+17T>G |
single nucleotide variant |
not provided [RCV005177053] |
Chr2:43982221 [GRCh38]
Chr2:44209360 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1370-17T>C |
single nucleotide variant |
not provided [RCV005115724] |
Chr2:43963723 [GRCh38]
Chr2:44190862 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3710-18T>C |
single nucleotide variant |
not provided [RCV005073898] |
Chr2:43899352 [GRCh38]
Chr2:44126491 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1735+8T>C |
single nucleotide variant |
not provided [RCV005115301] |
Chr2:43949594 [GRCh38]
Chr2:44176733 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.3709+14_3709+17del |
microsatellite |
not provided [RCV005155814] |
Chr2:43899449..43899452 [GRCh38]
Chr2:44126588..44126591 [GRCh37]
Chr2:2p21 |
likely benign |
| NM_133259.4(LRPPRC):c.1179_1183del (p.Tyr393_Lys395delinsTer) |
deletion |
not provided [RCV005179946] |
Chr2:43973873..43973877 [GRCh38]
Chr2:44201012..44201016 [GRCh37]
Chr2:2p21 |
pathogenic |
