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Links from MedGen

Items: 1 to 100 of 444

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRPPRC
(M1177L)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC
(S648fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(G762fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(I1188fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(D151fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(F1372fs)
Insertion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Y1215*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Microsatellite
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(S1327fs)
Indel
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(C413fs)
Duplication
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(V854fs)
Duplication
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(A517fs)
Duplication
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Deletion
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(V1011fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(R857fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Q82fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Q1085fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
+1 more
GPathogenic/Likely pathogenic
LRPPRC
Single nucleotide variant
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(M592fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Q69*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice donor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(K389fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Y165*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Indel
(splice acceptor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L1314*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L1310fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice donor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Deletion
(splice donor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice donor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
+1 more
GLikely pathogenic
LRPPRC
(L153fs)
Microsatellite
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(K463fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Q194fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(S742*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(K107fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(S1327fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice donor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
+1 more
GLikely pathogenic
LRPPRC
(N675fs)
Duplication
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L996fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Single nucleotide variant
(splice donor variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Deletion
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GPathogenic
LRPPRC
(L961P)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(V363I)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC
(E189D)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC
(V755I)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC, LOC129388857
Single nucleotide variant
(intron variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC
(K107E)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC
(D486N)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC
(K853E)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC
(P406S)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GUncertain significance
LRPPRC
(A918V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LRPPRC
(N1246fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LRPPRC
(W1015*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
+1 more
GPathogenic/Likely pathogenic
LRPPRC
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
LRPPRC
(L426*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(E1156fs)
Indel
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(T830fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(A1233fs)
Indel
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(K295*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(N498fs)
Indel
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(E136fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(E460*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(K170*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(V171fs)
Insertion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(E803fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L271fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(A63fs)
Indel
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(G32fs)
Indel
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(K750fs)
Insertion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L20fs)
Indel
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Q696*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(D1263fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(I981fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
Indel
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L168*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(S707fs)
Duplication
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(N520fs)
Duplication
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L1259fs)
Insertion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(E1231*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(C361fs)
Indel
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L11fs)
Insertion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(P31fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L525*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(A1105fs)
Duplication
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Q1260fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(K389*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(F1083fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(M506fs)
Insertion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
+1 more
GPathogenic/Likely pathogenic
LRPPRC
Insertion
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(D783fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L1076*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(K963fs)
Deletion
(frameshift variant)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Y172*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(Y177*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
LRPPRC
(L644*)
Single nucleotide variant
(nonsense)
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
GLikely pathogenic
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