LRPPRC — 2210 ClinVar variants

All ClinVar germline LRPPRC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 474 flagged for review →

69 Pathogenic · 38 Pathogenic/Likely pathogenic · 215 Likely pathogenic · 73 Conflicting · 110 Benign · 21 Benign/Likely benign · 1099 Likely benign · 585 Uncertain significance

Full LRPPRC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 474

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 36

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

LRPPRC p.Ala1196Thr Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ala205Thr Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Ala272Thr Conflicting Single submitter
LRPPRC p.Ala3Ser Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ala417Ser Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Ala60Val Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg857Gly Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asn1057Lys Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Asn418Ser Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Asn81Ser Conflicting Single submitter
LRPPRC p.Cys571Ser Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Gln1214Arg Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Gln765His Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Glu432Gly Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Glu559Gly Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Glu562Gly Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Glu612Lys Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Glu674Lys Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Gly434Asp Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Gly51Arg Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.His122Arg Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.His643Arg Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ile560Leu Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Leu20Phe Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Leu22Val Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Leu27Phe Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Leu838Pro Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Lys78Arg Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Pro1012Ser Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Ser1206Leu Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ser1378Gly Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Thr476Ala Conflicting Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Trp1015Ser Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Tyr207Phe Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Val363Ile Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Val745Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 341

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 341

LRPPRC p.Ala1091Thr Uncertain significance Multiple submitters
LRPPRC p.Ala1093Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ala1272Gly Uncertain significance Multiple submitters
LRPPRC p.Ala1360Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ala37Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ala417Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ala516Val Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ala918Val Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg1109Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Arg1144Cys Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg1144His Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Arg114Gly Uncertain significance Multiple submitters
LRPPRC p.Arg1358His Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Arg25His Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg303His Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Arg627His Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Arg739His Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg919Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Arg989His Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg994Thr Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg99Cys Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asn1208Lys Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Asn418Thr Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asn621Lys Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Asp1352Glu Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asp151His Uncertain significance Multiple submitters
LRPPRC p.Cys113Phe Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Gln106Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Glu297Lys Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Glu867Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Gly434Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Gly448Val Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ile1111Leu Uncertain significance Multiple submitters
LRPPRC p.Ile1158Thr Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Leu12Pro Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Leu24Val Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Leu407Val Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Leu701Met Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Leu873Ile Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Lys1209Glu Uncertain significance Multiple submitters
LRPPRC p.Lys566Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Met1177Leu Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Met614Val Uncertain significance Multiple submitters
LRPPRC-related disorder
LRPPRC p.Phe372Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Phe74Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Pro1033Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Pro1285Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Pro21Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Pro386Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Pro439His Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Pro47Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ser1079Thr Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ser1378Asn Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ser1393Ala Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ser504Thr Uncertain significance Multiple submitters
LRPPRC p.Ser691Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Thr1125Ala Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Thr391Ile Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Thr578Met Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Thr784Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Tyr39Cys Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Tyr714Cys Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Val616Ile Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ala1067Gly Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala1123Val Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala1141Ser Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala1241Val Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala1272Thr Uncertain significance Single submitter
LRPPRC p.Ala1320Thr Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala146Val Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala14Thr Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ala17Val Uncertain significance Single submitter
LRPPRC p.Ala233Thr Uncertain significance Single submitter
LRPPRC p.Ala3Pro Uncertain significance Single submitter
LRPPRC p.Ala414Pro Uncertain significance Single submitter
LRPPRC p.Ala42Thr Uncertain significance Single submitter
LRPPRC p.Ala45Gly Uncertain significance Single submitter
LRPPRC p.Ala45Thr Uncertain significance Single submitter
LRPPRC p.Ala510Asp Uncertain significance Single submitter
LRPPRC p.Ala517Gly Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ala580Thr Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala62Ser Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala642Thr Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala703Ser Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala715Gly Uncertain significance Single submitter
LRPPRC p.Ala759Thr Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala767Ser Uncertain significance Single submitter
LRPPRC p.Ala921Glu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg1001Lys Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg1117Gln Uncertain significance Single submitter
LRPPRC p.Arg1139Gly Uncertain significance Single submitter
LRPPRC p.Arg1293Lys Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg1358Cys Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg13Gly Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg13Pro Uncertain significance Single submitter
LRPPRC p.Arg303Cys Uncertain significance Single submitter
LRPPRC p.Arg449Cys Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg44Gly Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg450Gln Uncertain significance Single submitter
LRPPRC p.Arg492Gln Uncertain significance Single submitter
LRPPRC p.Arg569His Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg627Leu Uncertain significance Single submitter
intellectual disability
LRPPRC p.Arg99His Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg9Gly Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asn1107Ser Uncertain significance Single submitter
LRPPRC p.Asn110Asp Uncertain significance Single submitter
LRPPRC p.Asn1202Ile Uncertain significance Single submitter
LRPPRC-related disorder
LRPPRC p.Asn1202Ser Uncertain significance Single submitter
LRPPRC p.Asn1208Ser Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asn1246Ser Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asn1322Ser Uncertain significance Single submitter
LRPPRC p.Asn250Ser Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asn418Asp Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asn454Ser Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asn489Ser Uncertain significance Single submitter
LRPPRC p.Asn587His Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asp1118Gly Uncertain significance Single submitter
LRPPRC p.Asp1263Asn Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asp1268Asn Uncertain significance Single submitter
LRPPRC p.Asp1269His Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asp268Ala Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asp268Gly Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asp282Asn Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asp304Tyr Uncertain significance Single submitter
LRPPRC p.Asp486Asn Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asp590Glu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asp652Gly Uncertain significance Single submitter
LRPPRC p.Asp67Gly Uncertain significance Single submitter
LRPPRC p.Asp680Val Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Cys1043Arg Uncertain significance Single submitter
LRPPRC p.Cys571Tyr Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Cys690Phe Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Gln1247Leu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Gln307Arg Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Gln307Leu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Gln456Arg Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Gln474Glu Uncertain significance Single submitter
LRPPRC p.Gln496His Uncertain significance Single submitter
LRPPRC p.Gln676Arg Uncertain significance Single submitter
LRPPRC p.Gln676His Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Gln69Glu Uncertain significance Single submitter
LRPPRC p.Gln765Arg Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Gln82Pro Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Gln885Glu Uncertain significance Single submitter
LRPPRC p.Gln900Arg Uncertain significance Single submitter
LRPPRC p.Gln947Lys Uncertain significance Single submitter
LRPPRC p.Gln982Glu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Glu1282Asp Uncertain significance Single submitter
LRPPRC p.Glu189Asp Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Glu294Asp Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 97

The independent predictors disagree with each other — read with care.

LRPPRC p.Ala510Gly Benign Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ala997Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Arg739Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Asp641Val Uncertain significance Multiple submitters
LRPPRC p.Gln319Arg Uncertain significance Multiple submitters
LRPPRC p.Gly262Glu Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Leu585Phe Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Leu815Val Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Ser551Phe Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Thr231Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRPPRC p.Tyr1341Cys Uncertain significance Multiple submitters
LRPPRC p.Tyr270His Uncertain significance Multiple submitters
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Val635Phe Uncertain significance Multiple submitters
LRPPRC p.Ala1058Val Uncertain significance Single submitter
intellectual disability
LRPPRC p.Ala1093Val Uncertain significance Single submitter
LRPPRC p.Ala1184Asp Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ala2Val Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ala3Thr Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Ala3Val Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ala423Val Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg1144Pro Uncertain significance Single submitter
LRPPRC p.Arg197Gln Uncertain significance Single submitter
LRPPRC p.Arg202Thr Uncertain significance Single submitter
LRPPRC p.Arg450Pro Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg541Ser Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Arg799Gly Uncertain significance Single submitter
LRPPRC p.Arg799Thr Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Arg954Lys Uncertain significance Single submitter
LRPPRC p.Arg989Pro Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asn1103Lys Uncertain significance Single submitter
LRPPRC p.Asn1181Asp Uncertain significance Single submitter
LRPPRC p.Asn1190Asp Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asn520Asp Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Asp1194Gly Uncertain significance Single submitter
LRPPRC p.Asp282Tyr Uncertain significance Single submitter
LRPPRC p.Asp729Gly Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Asp747His Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Cys484Arg Conflicting Single submitter
Inborn genetic diseases
LRPPRC p.Cys930Tyr Uncertain significance Single submitter
LRPPRC p.Glu1309Gly Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Glu1368Lys Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Glu1374Asp Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Glu232Ala Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Glu232Gly Conflicting Single submitter
LRPPRC p.Glu803Lys Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ile1097Thr Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Ile824Arg Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ile911Ser Uncertain significance Single submitter
LRPPRC p.Leu104Arg Uncertain significance Single submitter
LRPPRC p.Leu1324Val Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Leu446Val Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Leu671Ile Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Leu894Phe Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Leu961Met Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Lys1059Glu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Lys1152Asn Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Lys672Glu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Met1087Arg Uncertain significance Single submitter
LRPPRC p.Met1177Ile Uncertain significance Single submitter
LRPPRC p.Met614Ile Uncertain significance Single submitter
LRPPRC p.Phe1222Leu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Phe1248Cys Uncertain significance Single submitter
LRPPRC p.Phe409Leu Uncertain significance Single submitter
LRPPRC p.Pro1312Leu Uncertain significance Single submitter
LRPPRC p.Pro1369Leu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Pro181Ser Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Pro362Leu Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Pro406Ser Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ser1238Arg Uncertain significance Single submitter
LRPPRC p.Ser707Phe Uncertain significance Single submitter
LRPPRC p.Ser743Phe Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ser825Arg Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Thr269Ile Uncertain significance Single submitter
LRPPRC p.Tyr1220Ser Uncertain significance Single submitter
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Tyr477Cys Uncertain significance Single submitter
Inborn genetic diseases
LRPPRC p.Val328Gly Uncertain significance Single submitter
LRPPRC p.Ala1051Thr Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asn1107Lys Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asn196Thr Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asp352Tyr Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Asp503Gly Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Cys1277Trp Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Glu460Ala Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Gly262Ala Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Gly836Cys Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ile283Asn Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ile874Thr Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Lys1224Asn Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Phe1055Val Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Phe1065Leu Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Phe1290Ile Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Pro1312Arg Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Pro386Leu Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Ser558Arg Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Tyr1328His Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Tyr393His Likely pathogenic No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
LRPPRC p.Val1142Met Uncertain significance No assertion criteria
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

All LRPPRC variants

Pathogenic 69

c.3900+1G>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala354Val Multiple submitters LRPPRC-related disorder
p.Gly1050fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala16fs Single submitter
p.Ala423fs Single submitter
p.Arg13fs Single submitter
p.Arg332Ter Single submitter
p.Arg799Ter Single submitter
p.Asn1107fs Single submitter
p.Asn1199fs Single submitter
p.Asn555delinsIleTer Single submitter
p.Asn694fs Single submitter
p.Asp1104fs Single submitter
p.Cys722Ter Single submitter
p.Gln1061Ter Single submitter
p.Gln1085fs Single submitter
p.Gln1085Ter Single submitter
p.Gln1114fs Single submitter
p.Gln1114Ter Single submitter
p.Gln1133Ter Single submitter
p.Gln401Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln947fs Single submitter
p.Gln982Ter Single submitter
p.Glu1228Ter Single submitter
p.Glu1282Ter Single submitter
p.Glu351Ter Single submitter
p.Glu631Ter Single submitter
p.Glu776Ter Single submitter
p.Glu944Ter Single submitter
p.Gly262fs Single submitter
p.Ile639fs Single submitter
p.Ile999fs Single submitter
p.Leu1040fs Single submitter
p.Leu124fs Single submitter
p.Leu1351fs Single submitter
p.Leu446fs Single submitter
p.Leu671fs Single submitter
p.Leu687fs Single submitter
p.Leu838fs Single submitter
p.Lys102fs Single submitter
p.Lys1209fs Single submitter
p.Lys683fs Single submitter
p.Lys704Ter Single submitter
p.Lys750fs Single submitter
p.Lys78fs Single submitter
p.Phe184fs Single submitter
p.Pro1008fs Single submitter
p.Pro1253fs Single submitter
p.Ser1175Ter Single submitter
p.Ser163fs Single submitter
p.Ser93delinsPhePhePhePhePhePhePheXaaXaaXaaXaaThrAspProSerProArgArgLeuArgAlaPheSerTer Single submitter
p.Thr112fs Single submitter
p.Thr478fs Single submitter
p.Thr822fs Single submitter
p.Trp10Ter Single submitter
p.Trp443Ter Single submitter
p.Trp971Ter Single submitter
p.Tyr1215Ter Single submitter
p.Tyr1359Ter Single submitter
p.Tyr207Ter Single submitter
p.Tyr270Ter Single submitter
p.Tyr320Ter Single submitter
p.Tyr393_Lys395delinsTer Single submitter
p.Tyr852fs Single submitter
p.Tyr959Ter Single submitter
p.Val1267fs Single submitter
p.Val381fs Single submitter
p.Val745fs Single submitter
p.Val866del No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Pathogenic/Likely pathogenic 38

c.1920+1G>T Multiple submitters
c.3900+1G>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.864+2T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala1051fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala42fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg197Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg492Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg575Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg723Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg919Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg95Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn1246fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn454fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln201Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln658Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln684Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln82Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu366fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu399fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly576fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.His1096fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.His791fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ile622fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu1259fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu996fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys1338Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys909del Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met506fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met695fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe1222fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser1330Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser530Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser691Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Thr814fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Trp1015Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Trp85Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr1321Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr477Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Likely pathogenic 215

c.1369+1G>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1582+7A>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1677+1G>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1677+1G>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1678-1G>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1730_1735+1del Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1735+2T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1965+2T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2505-2A>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3275+1G>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3364+2T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3709+1G>A Multiple submitters LRPPRC-related disorder
c.3710-1del Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.469+1G>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.650+1G>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.650+1G>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg1044Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn1190fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln1005fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln696Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln69Ter Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met1Thr Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1010-1G>A Single submitter
c.1155+2T>G Single submitter
c.1156-2A>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1262-1G>C Single submitter
c.1369+2T>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.149+1G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.150-1G>T Single submitter
c.1582+1G>A Single submitter
c.1650-1G>T Single submitter
c.1677+3A>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1736-2A>G Single submitter
c.1736-2A>T Single submitter
c.1842+1G>T Single submitter
c.1842+2T>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1843-2A>G Single submitter
c.1966-2A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1966-3_1966-1del Single submitter
c.2210+1G>A Single submitter
c.2211-1G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2296+1G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2504+2T>A Single submitter
c.2629+2T>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2630-5_2630-2del Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2806-1G>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2897-2A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.299_346+35delinsCTG Single submitter
c.3037_3039+19del Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3040-1G>T Single submitter
c.3148+1G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3149-2_3149-1del Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3149-2A>G Single submitter
c.3149-2A>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3149-2del Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3151del Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3276-2A>G Single submitter
c.3364+1G>A Single submitter
c.3364+1G>C Single submitter
c.346+1G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3709+1G>T Single submitter
c.3710-1G>A Single submitter
c.3825+1G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3826-1G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3826-2A>G Single submitter
c.3985+1811_4077delinsA Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3985+1G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3986-1G>C Single submitter
c.3986-2A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.469+1G>C Single submitter
c.591+1G>T Single submitter
c.592-2A>T Single submitter
c.650+1del Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.738-1G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.738-2A>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.738-3_739del Single submitter
c.865-2A>G Single submitter
p.Ala1105fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala1233fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala1270Val Single submitter
p.Ala1320fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala517fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala63fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala673fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala703fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg197fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg303fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Arg857fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn498fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn520fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn650fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn675fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asp1263fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asp151fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asp392fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asp67fs Single submitter
p.Asp783fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asp84fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Cys361fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Cys413fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln1036Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln1260fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln1260Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln194fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln378fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln598Ter Single submitter
p.Gln654Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln765Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln82fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln947Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu1002fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu1156fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu1231Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu1318Ter Single submitter
p.Glu136fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu176Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu460Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu803fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly119fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly131fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly221fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly32fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly51Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly762fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ile1188fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ile812fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ile981fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu1076Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu1149Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu11fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu126delinsGlnIleIlePheTer Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu1310fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu1314Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu153fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu168Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu20fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu228fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu271fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu300delinsArgCysValTer Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu426Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu525Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu5fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu644Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu808Trp Single submitter
p.Leu815fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu817Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu961Pro Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu993fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys107fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys1236Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys1332fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys138fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys170Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys178Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys287delinsAsnTer Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys295Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys327Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys389fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys389Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys463fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys868fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys963fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met1087fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met1Val Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met592fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met878fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe1083fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe1372fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe235fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe372fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe375fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe584fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe790fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Pro31fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Pro406fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser1327fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser364Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser648fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser707fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser742Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Thr1101fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Thr830fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Thr840fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Trp557Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr1052Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr1341Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr165Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr172Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr177Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr393Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr39Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr565Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr586Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr633Ter Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr849fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Val1011fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Val1124fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Val171fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Val854fs Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1261+2T>C No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2080-1G>C No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2505-1G>T No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2736+1G>T No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2737-1G>T No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.4128+1G>A No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.4128+2T>G No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu462fs No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu995Ter No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys1224_Val1225insTer No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met1Ile No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met1Lys No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser526Ter No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr200Ter No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr393His No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Val657fs No assertion criteria congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Conflicting classifications of pathogenicity 73

c.1009+15A>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1262-12T>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1370-4_1370-3dup Single submitter
c.1583-14A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1678-7T>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1736-7T>G Single submitter
c.1842+10C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1920+11A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2210+10C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2210+4A>C Single submitter
c.3148+12C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3275+7G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.346+9A>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3901-6T>C Single submitter Inborn genetic diseases
c.*399G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala1196Thr Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ala205Thr Single submitter Inborn genetic diseases ⚠
p.Ala272Thr Single submitter ⚠
p.Ala37= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala3Ser Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ala3Thr Single submitter Inborn genetic diseases ⚠
p.Ala417Ser Single submitter Inborn genetic diseases ⚠
p.Ala45= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala60Val Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg857Gly Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg989Cys Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn1057Lys Single submitter Inborn genetic diseases ⚠
p.Asn175= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn418Ser Single submitter Inborn genetic diseases ⚠
p.Asn520Asp Single submitter Inborn genetic diseases ⚠
p.Asn81Ser Single submitter ⚠
p.Asp1010= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asp473= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Cys484Arg Single submitter Inborn genetic diseases ⚠
p.Cys571Ser Single submitter Inborn genetic diseases ⚠
p.Gln1214Arg Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Gln765His Single submitter Inborn genetic diseases ⚠
p.Glu232Gly Single submitter ⚠
p.Glu432Gly Single submitter Inborn genetic diseases ⚠
p.Glu515= Single submitter
p.Glu559Gly Single submitter Inborn genetic diseases ⚠
p.Glu562Gly Single submitter Inborn genetic diseases ⚠
p.Glu612Lys Single submitter Inborn genetic diseases ⚠
p.Glu674Lys Single submitter Inborn genetic diseases ⚠
p.Gly281= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly32= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly434Asp Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Gly51Arg Single submitter Inborn genetic diseases ⚠
p.Gly795= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gly800Ser Single submitter
p.His122Arg Single submitter Inborn genetic diseases ⚠
p.His147= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.His643= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.His643Arg Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ile560Leu Single submitter Inborn genetic diseases ⚠
p.Leu20Phe Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Leu22Val Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Leu27Phe Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Leu838Pro Single submitter Inborn genetic diseases ⚠
p.Lys78Arg Single submitter Inborn genetic diseases ⚠
p.Phe1216= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe1222= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Phe435= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Pro1012Ser Single submitter Inborn genetic diseases ⚠
p.Ser1206Leu Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ser1378Gly Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ser38= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ser558= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Thr476Ala Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Trp1015Ser Single submitter Inborn genetic diseases ⚠
p.Tyr207Phe Single submitter Inborn genetic diseases ⚠
p.Val363Ile Single submitter Inborn genetic diseases ⚠
p.Val745Ile Single submitter Inborn genetic diseases ⚠

Benign 110

c.1155+30A>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1488+16G>A Multiple submitters
c.1489-56T>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.149+57G>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.150-233G>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1582+28T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1677+11C>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1677+152G>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1843-28T>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1921-54A>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2080-40A>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2211-80A>G Multiple submitters
c.2296+27T>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2630-22T>C Multiple submitters
c.2805+37G>C Multiple submitters
c.2806-110C>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2896+148T>C Multiple submitters
c.2896+26C>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3039+21C>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3275+97T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3365-206C>T Multiple submitters
c.3365-249G>A Multiple submitters
c.3365-34A>G Multiple submitters
c.347-19A>G Multiple submitters
c.3570-3C>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3900+14C>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3900+15C>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3901-160A>G Multiple submitters
c.3986-31T>G Multiple submitters
c.4128+37G>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.650+116G>C Multiple submitters
c.738-70T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1088G>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1335T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1665C>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*556A>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*734A>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*825A>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala14Gly Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala510Gly Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asn1199Asp Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln356= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln82= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Lys775= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Pro827= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Thr478Ala Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Val854= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1009+15del Single submitter
c.1009+15dup Single submitter
c.1010-9del Single submitter
c.1370-235T>C Single submitter
c.1488+335G>A Single submitter
c.149+156G>T Single submitter
c.149+276T>C Single submitter
c.150-208T>C Single submitter
c.150-3dup Single submitter
c.1583-10del Single submitter
c.1650-209A>G Single submitter
c.1650-295A>G Single submitter
c.1650-299C>A Single submitter
c.1677+178T>C Single submitter
c.1677+258A>G Single submitter
c.1736-13dup Single submitter
c.1736-215A>G Single submitter
c.1842+17del Single submitter
c.1965+14del Single submitter
c.2210+161_2210+164del Single submitter
c.2297-18del Single submitter
c.2504+18del Single submitter
c.2504+245T>A Single submitter
c.2505-149T>C Single submitter
c.2505-16dup Single submitter
c.2505-303A>G Single submitter
c.2629+30dup Single submitter
c.2630-14del Single submitter
c.2630-20T>C Single submitter
c.2736+10dup Single submitter
c.2737-230C>G Single submitter
c.2806-233A>T Single submitter
c.2897-262G>A Single submitter
c.2897-300T>G Single submitter
c.3039+12del Single submitter
c.3149-19del Single submitter
c.3149-19dup Single submitter
c.3149-289C>T Single submitter
c.346+243del Single submitter
c.347-7del Single submitter
c.3570-12del Single submitter
c.3710-5del Single submitter
c.3826-208A>G Single submitter
c.3900+100del Single submitter
c.3901-175T>C Single submitter
c.3986-12del Single submitter
c.4129-12dup Single submitter
c.4129-247_4129-246del Single submitter
c.4129-305G>A Single submitter
c.469+166T>G Single submitter
c.470-132C>G Single submitter
c.470-302A>G Single submitter
c.650+268_650+269insG Single submitter
c.650+269T>G Single submitter
c.651-10dup Single submitter
c.651-172G>A Single submitter
c.651-211C>T Single submitter
c.-272G>C Single submitter
c.*1343G>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1371C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2041C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2176A>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Thr112Pro Single submitter

Benign/Likely benign 21

c.1156-13dup Multiple submitters
c.149+19T>C Multiple submitters
c.149+20C>G Multiple submitters
c.1735+12A>G Multiple submitters
c.1736-14G>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1966-12del Multiple submitters
c.2629+18A>G Multiple submitters
c.2806-18C>G Multiple submitters
c.2896+16A>G Multiple submitters
c.3825+15C>T Multiple submitters
c.470-20A>G Multiple submitters
c.651-15G>A Multiple submitters
c.738-18T>C Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.864+11T>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.-11A>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala1360Thr Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala921Ser Multiple submitters Inborn genetic diseases
p.Glu497Asp Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu706= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu630= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Met614Thr Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Likely benign 1099

Showing the top 300 by review status; the full set is in the sitemap.

c.1010-5C>T Multiple submitters
c.1261+18T>A Multiple submitters
c.1369+20C>T Multiple submitters
c.1370-16A>G Multiple submitters
c.1488+40A>T Multiple submitters
c.149+20C>T Multiple submitters
c.149+8C>T Multiple submitters
c.150-19del Multiple submitters
c.1582+12A>C Multiple submitters
c.1582+20G>A Multiple submitters
c.1583-81T>C Multiple submitters
c.1677+11C>T Multiple submitters
c.1677+18T>A Multiple submitters
c.1677+7C>T Multiple submitters
c.1735+16C>T Multiple submitters
c.1735+17G>T Multiple submitters
c.1842+11G>C Multiple submitters
c.1920+126C>T Multiple submitters
c.1921-124C>T Multiple submitters
c.1966-54C>A Multiple submitters
c.2079+10G>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.2080-16C>T Multiple submitters
c.2211-111C>T Multiple submitters
c.2211-14G>A Multiple submitters
c.2296+13A>C Multiple submitters
c.2296+21G>T Multiple submitters
c.2297-16T>C Multiple submitters
c.2629+12T>G Multiple submitters
c.2630-19T>A Multiple submitters
c.2805+124G>A Multiple submitters
c.2896+8A>G Multiple submitters
c.2897-39A>G Multiple submitters
c.3148+11A>G Multiple submitters
c.3276-8T>G Multiple submitters
c.3365-16T>C Multiple submitters
c.3825+15C>G Multiple submitters
c.3901-14A>G Multiple submitters
c.3901-4C>T Multiple submitters Inborn genetic diseases
c.3985+14_3985+18del Multiple submitters
c.3985+7T>C Multiple submitters
c.3986-83C>T Multiple submitters
c.4129-8C>T Multiple submitters
c.4129-9C>T Multiple submitters
c.470-13A>G Multiple submitters
c.650+18C>T Multiple submitters
c.738-9A>T Multiple submitters
c.864+11T>C Multiple submitters
p.Ala1279= Multiple submitters
p.Ala1366= Multiple submitters
p.Ala14= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala272= Multiple submitters
p.Ala276= Multiple submitters
p.Ala278= Multiple submitters
p.Ala42= Multiple submitters
p.Arg1276= Multiple submitters
p.Arg1358= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asn968= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asp1333= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln474Arg Multiple submitters Inborn genetic diseases
p.Gln676= Multiple submitters
p.Glu136= Multiple submitters
p.Gly120= Multiple submitters
p.Gly1265= Multiple submitters
p.Gly241= Multiple submitters
p.His403= Multiple submitters
p.His412= Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.His791= Multiple submitters
p.Leu1149= Multiple submitters
p.Leu1168= Multiple submitters
p.Leu1230= Multiple submitters
p.Leu1244= Multiple submitters
p.Leu34= Multiple submitters
p.Leu390= Multiple submitters
p.Leu838= Multiple submitters
p.Leu855= Multiple submitters
p.Leu90= Multiple submitters
p.Lys760= Multiple submitters
p.Phe312= Multiple submitters
p.Pro483= Multiple submitters
p.Ser1026= Multiple submitters
p.Ser364= Multiple submitters
p.Ser662= Multiple submitters
p.Ser7= Multiple submitters
p.Ser76= Multiple submitters
p.Ser788= Multiple submitters
p.Thr1084= Multiple submitters
p.Tyr1359= Multiple submitters Inborn genetic diseases
p.Tyr623= Multiple submitters
p.Val1124= Multiple submitters
p.Val757= Multiple submitters
p.Val829= Multiple submitters
p.Val844= Multiple submitters
c.1009+10A>T Single submitter
c.1009+12A>G Single submitter
c.1009+15A>G Single submitter
c.1009+19A>G Single submitter
c.1009+20T>G Single submitter
c.1009+7T>G Single submitter
c.1009+8T>A Single submitter
c.1009+8T>C Single submitter
c.1009+9A>T Single submitter
c.1010-13G>T Single submitter
c.1010-15_1010-14del Single submitter
c.1010-15T>C Single submitter
c.1010-15T>G Single submitter
c.1010-18T>C Single submitter
c.1010-4C>G Single submitter
c.1010-8C>G Single submitter
c.1010-8C>T Single submitter
c.1010-9T>C Single submitter
c.1155+11C>G Single submitter
c.1155+11C>T Single submitter
c.1155+12A>C Single submitter
c.1155+12A>G Single submitter
c.1155+16T>C Single submitter
c.1155+60_1155+66del Single submitter
c.1155+7T>G Single submitter
c.1155+8G>C Single submitter
c.1156-15A>G Single submitter
c.1156-16G>C Single submitter
c.1156-19G>C Single submitter
c.1156-19G>T Single submitter
c.1156-4A>G Single submitter
c.1156-5C>T Single submitter
c.1156-6C>T Single submitter
c.1156-9_1156-8del Single submitter
c.1261+11C>G Single submitter
c.1261+16dup Single submitter
c.1261+18T>C Single submitter
c.1261+19T>C Single submitter
c.1261+7C>T Single submitter
c.1261+8A>G Single submitter
c.1262-10T>C Single submitter
c.1262-11A>C Single submitter
c.1262-13A>G Single submitter
c.1262-13A>T Single submitter
c.1262-15T>C Single submitter
c.1262-16A>C Single submitter
c.1262-16A>G Single submitter
c.1262-7C>G Single submitter
c.1262-7C>T Single submitter
c.1262-9C>G Single submitter
c.1262-9C>T Single submitter
c.1369+18A>G Single submitter
c.1369+19_1369+20insCAAT Single submitter
c.1369+19C>G Single submitter
c.1370-11T>G Single submitter
c.1370-15C>T Single submitter
c.1370-17T>C Single submitter
c.1370-18C>T Single submitter
c.1370-253C>G Single submitter
c.1370-4G>C Single submitter
c.1370-4G>T Single submitter
c.1488+10A>C Single submitter
c.1488+10A>T Single submitter
c.1488+13G>A Single submitter
c.1488+16G>C Single submitter
c.1488+20T>G Single submitter
c.1488+247C>T Single submitter
c.1488+8C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1489-13G>A Single submitter
c.1489-15A>T Single submitter
c.1489-16T>C Single submitter
c.1489-177C>T Single submitter
c.1489-17A>G Single submitter
c.1489-4C>G Single submitter
c.1489-5T>C Single submitter
c.1489-8A>T Single submitter
c.1489-9T>C Single submitter
c.149+12G>A Single submitter
c.149+12G>C Single submitter
c.149+13G>A Single submitter
c.149+14C>A Single submitter
c.149+14C>T Single submitter
c.149+15C>A Single submitter
c.149+15C>T Single submitter
c.149+16C>G Single submitter
c.149+17T>A Single submitter
c.149+17T>C Single submitter
c.149+18_149+29del Single submitter
c.149+18T>A Single submitter
c.149+20del Single submitter
c.149+215C>T Single submitter
c.149+274C>T Single submitter
c.149+29A>G Single submitter
c.149+49C>T Single submitter
c.149+65C>T Single submitter
c.149+83G>A Single submitter
c.149+8C>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.149+9C>T Single submitter
c.150-14G>A Single submitter
c.150-14G>T Single submitter
c.150-19_150-16del Single submitter
c.150-8T>C Single submitter
c.150-9A>G Single submitter
c.1582+11A>G Single submitter
c.1582+1329A>G Single submitter
c.1582+13C>T Single submitter
c.1582+16T>A Single submitter
c.1582+19C>T Single submitter
c.1582+9A>G Single submitter
c.1583-10T>G Single submitter
c.1583-17G>A Single submitter
c.1583-19T>C Single submitter
c.1583-9C>G Single submitter
c.1649+297T>A Single submitter
c.1650-14G>T Single submitter
c.1650-18C>A Single submitter
c.1650-18C>G Single submitter
c.1650-6C>T Single submitter
c.1650-8C>G Single submitter
c.1650-8C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1650-9C>T Single submitter
c.1677+17T>C Single submitter
c.1677+294C>A Single submitter
c.1677+67G>C Single submitter
c.1677+9C>T Single submitter
c.1678-12C>T Single submitter
c.1678-13T>G Single submitter
c.1678-17A>C Single submitter
c.1678-19G>A Single submitter
c.1678-20C>T Single submitter
c.1678-277A>G Single submitter
c.1678-4C>A Single submitter
c.1678-4C>T Single submitter
c.1678-5A>G Single submitter
c.1678-5A>T Single submitter
c.1678-6T>A Single submitter
c.1678-8C>G Single submitter
c.1678-8C>T Single submitter
c.1735+17G>A Single submitter
c.1735+17G>C Single submitter
c.1735+8T>C Single submitter
c.1736-13T>C Single submitter
c.1736-17C>G Single submitter
c.1736-7T>C Single submitter
c.1842+10C>G Single submitter
c.1842+11G>A Single submitter
c.1842+11G>T Single submitter
c.1842+19C>A Single submitter
c.1842+50C>G Single submitter Inborn genetic diseases
c.1842+9T>G Single submitter
c.1843-10C>G Single submitter
c.1843-11C>T Single submitter
c.1843-12C>G Single submitter
c.1843-17C>T Single submitter
c.1843-18del Single submitter
c.1843-7C>G Single submitter
c.1843-9T>A Single submitter
c.1920+15G>A Single submitter
c.1920+18A>G Single submitter
c.1920+2TG[5] Single submitter
c.1920+53G>A Single submitter
c.1920+7G>A Single submitter
c.1920+8T>C Single submitter
c.1921-15A>C Single submitter
c.1921-17T>G Single submitter
c.1921-8A>C Single submitter
c.1921-9C>A Single submitter
c.1965+15G>T Single submitter
c.1965+9G>A Single submitter
c.1966-11_1966-8del Single submitter
c.1966-15T>C Single submitter
c.1966-16T>G Single submitter
c.1966-18_1966-14del Single submitter
c.1966-18C>A Single submitter
c.1966-18C>G Single submitter
c.1966-18C>T Single submitter
c.1966-19T>C Single submitter
c.1966-28TTTTTCTTTTCT[3] Single submitter
c.1966-6C>T Single submitter
c.1966-8T>A Single submitter
c.1966-9_1966-5del Single submitter
c.1966-9T>G Single submitter
c.2079+15A>C Single submitter
c.2079+16A>G Single submitter
c.2079+18A>T Single submitter
c.2079+9T>A Single submitter
c.2079+9T>G Single submitter
c.2080-12G>A Single submitter
c.2080-14A>G Single submitter
c.2080-14A>T Single submitter
c.2080-16C>A Single submitter
c.2080-18A>G Single submitter
c.2080-19C>T Single submitter
c.2080-9G>A Single submitter
c.2080-9G>C Single submitter
c.2210+13G>C Single submitter
c.2210+16C>A Single submitter
c.2210+16C>G Single submitter
c.2210+16C>T Single submitter
c.2210+17T>C Single submitter
c.2210+19A>T Single submitter
c.2210+8C>A Single submitter
c.2210+8C>G Single submitter
c.2210+8C>T Single submitter
c.2210+9C>G Single submitter
c.2210+9C>T Single submitter
c.2211-10T>C Single submitter
c.2211-12T>C Single submitter

Uncertain significance 585

Showing the top 300 by review status; the full set is in the sitemap.

c.1369+5G>A Multiple submitters Inborn genetic diseases
c.1735+3A>G Multiple submitters
c.1921-7A>G Multiple submitters Leigh syndrome
c.2079+6A>G Multiple submitters
c.3040-4A>G Multiple submitters
c.3275+3_3275+6del Multiple submitters
c.3364+6T>A Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.3901-6T>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.592_603del Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.737+5T>C Multiple submitters
c.*1121G>T Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1458A>G Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala1091Thr Multiple submitters ⚠
p.Ala1093= Multiple submitters
p.Ala1093Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1272Gly Multiple submitters ⚠
p.Ala1360Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala37Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala417Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala516Val Multiple submitters Inborn genetic diseases ⚠
p.Ala918Val Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ala997Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg1109Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1144Cys Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg1144His Multiple submitters Inborn genetic diseases ⚠
p.Arg114Gly Multiple submitters ⚠
p.Arg1358His Multiple submitters Inborn genetic diseases ⚠
p.Arg25His Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg303His Multiple submitters Inborn genetic diseases ⚠
p.Arg627His Multiple submitters Inborn genetic diseases ⚠
p.Arg739Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg739His Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg919Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg989His Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg994Thr Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg99Cys Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asn1208Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn418Thr Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asn621Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp1352Glu Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asp151His Multiple submitters ⚠
p.Asp268His Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Asp641Val Multiple submitters ⚠
p.Cys113Phe Multiple submitters Inborn genetic diseases ⚠
p.Gln106Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln319Arg Multiple submitters ⚠
p.Gln610His Multiple submitters Inborn genetic diseases
p.Glu1377fs Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu297Lys Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Glu867Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly262Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly434Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly448Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1111Leu Multiple submitters ⚠
p.Ile1158Thr Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Leu1289del Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Leu12Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu24Val Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Leu407Val Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Leu585Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu701Met Multiple submitters Inborn genetic diseases ⚠
p.Leu815Val Multiple submitters Inborn genetic diseases ⚠
p.Leu873Ile Multiple submitters Inborn genetic diseases ⚠
p.Lys1209Glu Multiple submitters ⚠
p.Lys566Arg Multiple submitters Inborn genetic diseases ⚠
p.Met1177Leu Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Met614Val Multiple submitters LRPPRC-related disorder ⚠
p.Phe372Ser Multiple submitters Inborn genetic diseases ⚠
p.Phe74Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1033Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1285Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro21Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro386Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro439His Multiple submitters Inborn genetic diseases ⚠
p.Pro47Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser1079Thr Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ser1378Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser1393Ala Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ser504Thr Multiple submitters ⚠
p.Ser551Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser691Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr1125Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr231Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr391Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr578Met Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Thr784Arg Multiple submitters Inborn genetic diseases ⚠
p.Tyr1341Cys Multiple submitters ⚠
p.Tyr172Cys Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Tyr270His Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Tyr39Cys Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Tyr714Cys Multiple submitters congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Val616Ile Multiple submitters Inborn genetic diseases ⚠
p.Val635Phe Multiple submitters ⚠
c.1010-3C>T Single submitter
c.1155+108A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1677+4A>C Single submitter
c.1735+5C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.1735+5C>T Single submitter
c.2297-8C>A Single submitter
c.2504+6T>A Single submitter
c.3040-10T>A Single submitter
c.3148+2C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.347-14C>G Single submitter
c.4128+4A>C Single submitter
c.4128+6T>C Single submitter
c.650+6G>C Single submitter
c.-19C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.-4A>G Single submitter
c.*110G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1152C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1355C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1370G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1372G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1435C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1449_*1456dup Single submitter
c.*1498G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1563C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1584G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1587C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1652C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1653G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1653G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1665C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1684C>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1685G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1689G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1717C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1719G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1752C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1806A>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1816T>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1872C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1894C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1895G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1895G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1911G>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*1981A>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2041C>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2042G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2099C>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2157T>A Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*218A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2192A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2224A>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2230A>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2245A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2277A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2289A>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*2376C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*343C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*409C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*420C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*456G>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*485C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*518A>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*534G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*577G>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*587C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*590C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*647G>C Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*667C>T Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*735C>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
c.*996A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Ala1058Val Single submitter intellectual disability ⚠
p.Ala1067Gly Single submitter Inborn genetic diseases ⚠
p.Ala1093Val Single submitter ⚠
p.Ala1123Val Single submitter Inborn genetic diseases ⚠
p.Ala1141Ser Single submitter Inborn genetic diseases ⚠
p.Ala1184Asp Single submitter Inborn genetic diseases ⚠
p.Ala1241Val Single submitter Inborn genetic diseases ⚠
p.Ala1272Thr Single submitter ⚠
p.Ala1320Thr Single submitter Inborn genetic diseases ⚠
p.Ala146Val Single submitter Inborn genetic diseases ⚠
p.Ala14Thr Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ala17Val Single submitter ⚠
p.Ala233Thr Single submitter ⚠
p.Ala2Val Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ala3Pro Single submitter ⚠
p.Ala3Val Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ala414Pro Single submitter ⚠
p.Ala423Val Single submitter Inborn genetic diseases ⚠
p.Ala42Thr Single submitter ⚠
p.Ala45Gly Single submitter ⚠
p.Ala45Thr Single submitter ⚠
p.Ala510Asp Single submitter ⚠
p.Ala517Gly Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Ala580Thr Single submitter Inborn genetic diseases ⚠
p.Ala62Ser Single submitter Inborn genetic diseases ⚠
p.Ala642Thr Single submitter Inborn genetic diseases ⚠
p.Ala703Ser Single submitter Inborn genetic diseases ⚠
p.Ala715Gly Single submitter ⚠
p.Ala759Thr Single submitter Inborn genetic diseases ⚠
p.Ala767Ser Single submitter ⚠
p.Ala897Gly Single submitter
p.Ala921Glu Single submitter Inborn genetic diseases ⚠
p.Arg1001Lys Single submitter Inborn genetic diseases ⚠
p.Arg1117Gln Single submitter ⚠
p.Arg1139Gly Single submitter ⚠
p.Arg1144Pro Single submitter ⚠
p.Arg1293Lys Single submitter Inborn genetic diseases ⚠
p.Arg1358Cys Single submitter Inborn genetic diseases ⚠
p.Arg13Gly Single submitter Inborn genetic diseases ⚠
p.Arg13Pro Single submitter ⚠
p.Arg197Gln Single submitter ⚠
p.Arg202Thr Single submitter ⚠
p.Arg303Cys Single submitter ⚠
p.Arg449Cys Single submitter Inborn genetic diseases ⚠
p.Arg44Gly Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg450Gln Single submitter ⚠
p.Arg450Pro Single submitter Inborn genetic diseases ⚠
p.Arg492Gln Single submitter ⚠
p.Arg541Ser Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg569His Single submitter Inborn genetic diseases ⚠
p.Arg627Leu Single submitter intellectual disability ⚠
p.Arg799Gly Single submitter ⚠
p.Arg799Thr Single submitter Inborn genetic diseases ⚠
p.Arg954Lys Single submitter ⚠
p.Arg989Pro Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Arg99His Single submitter Inborn genetic diseases ⚠
p.Arg9Gly Single submitter Inborn genetic diseases ⚠
p.Asn1103Lys Single submitter ⚠
p.Asn1107Ser Single submitter ⚠
p.Asn110Asp Single submitter ⚠
p.Asn1181Asp Single submitter ⚠
p.Asn1190Asp Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asn1202Ile Single submitter LRPPRC-related disorder ⚠
p.Asn1202Ser Single submitter ⚠
p.Asn1208Ser Single submitter Inborn genetic diseases ⚠
p.Asn1246Ser Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asn1322Ser Single submitter ⚠
p.Asn250Ser Single submitter Inborn genetic diseases ⚠
p.Asn418Asp Single submitter Inborn genetic diseases ⚠
p.Asn454Ser Single submitter Inborn genetic diseases ⚠
p.Asn489Ser Single submitter ⚠
p.Asn587His Single submitter Inborn genetic diseases ⚠
p.Asn694Ser Single submitter
p.Asp1118Gly Single submitter ⚠
p.Asp1194Gly Single submitter ⚠
p.Asp1263Asn Single submitter Inborn genetic diseases ⚠
p.Asp1268Asn Single submitter ⚠
p.Asp1269His Single submitter Inborn genetic diseases ⚠
p.Asp268Ala Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asp268Gly Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asp282Asn Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asp282Tyr Single submitter ⚠
p.Asp304Tyr Single submitter ⚠
p.Asp337Asn Single submitter
p.Asp486Asn Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asp590Glu Single submitter Inborn genetic diseases ⚠
p.Asp652Gly Single submitter ⚠
p.Asp67Gly Single submitter ⚠
p.Asp680Val Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Asp729Gly Single submitter Inborn genetic diseases ⚠
p.Asp747His Single submitter Inborn genetic diseases ⚠
p.Cys1043Arg Single submitter ⚠
p.Cys380Gly Single submitter Inborn genetic diseases
p.Cys571Tyr Single submitter Inborn genetic diseases ⚠
p.Cys690Phe Single submitter Inborn genetic diseases ⚠
p.Cys930Tyr Single submitter ⚠
p.Gln1114= Single submitter
p.Gln1247Leu Single submitter Inborn genetic diseases ⚠
p.Gln1260= Single submitter
p.Gln288= Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Gln307Arg Single submitter Inborn genetic diseases ⚠
p.Gln307Leu Single submitter Inborn genetic diseases ⚠
p.Gln456Arg Single submitter Inborn genetic diseases ⚠
p.Gln474Glu Single submitter ⚠
p.Gln496His Single submitter ⚠
p.Gln676Arg Single submitter ⚠
p.Gln676His Single submitter Inborn genetic diseases ⚠
p.Gln69Glu Single submitter ⚠
p.Gln765Arg Single submitter Inborn genetic diseases ⚠
p.Gln82Pro Single submitter Inborn genetic diseases ⚠
p.Gln885Glu Single submitter ⚠
p.Gln900Arg Single submitter ⚠
p.Gln947Lys Single submitter ⚠
p.Gln982Glu Single submitter Inborn genetic diseases ⚠
p.Glu1282Asp Single submitter ⚠
p.Glu1309Gly Single submitter Inborn genetic diseases ⚠
p.Glu1368Lys Single submitter Inborn genetic diseases ⚠
p.Glu1374Asp Single submitter Inborn genetic diseases ⚠
p.Glu189Asp Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Glu232Ala Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type ⚠
p.Glu294Asp Single submitter Inborn genetic diseases ⚠
p.Glu294del Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
p.Glu323Lys Single submitter Inborn genetic diseases ⚠
p.Glu497Lys Single submitter ⚠
p.Glu562Val Single submitter Inborn genetic diseases
p.Glu602Gln Single submitter Inborn genetic diseases ⚠
p.Glu631Gln Single submitter ⚠
p.Glu669Gln Single submitter ⚠
p.Glu776Gln Single submitter ⚠
p.Glu803Lys Single submitter Inborn genetic diseases ⚠
p.Glu843Ala Single submitter ⚠
p.Glu870Asp Single submitter ⚠
p.Glu884Val Single submitter ⚠
p.Gly434Ala Single submitter ⚠
p.Gly434Cys Single submitter ⚠
p.Gly448Arg Single submitter ⚠
p.Gly457Ala Single submitter ⚠