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Links from MedGen

Items: 1 to 100 of 252

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTTP
(Q161* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GPathogenic
MTTP
(D297V +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
Single nucleotide variant
(splice donor variant)
Abetalipoproteinaemia
GPathogenic
MTTP
Deletion
Abetalipoproteinaemia
GPathogenic
MTTP
(L26fs)
Duplication
(frameshift variant +1 more)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(S805N +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
(L588M +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
(L394fs +1 more)
Insertion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(G572fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(F684fs +1 more)
Indel
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(S286* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(S339fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(L660* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MTTP
(T162fs +1 more)
Indel
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(G187fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(G163fs +1 more)
Indel
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(G112* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(G187* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(N236fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(N466fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
Indel
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(N442fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(T622fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Q307fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Q617fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(V92fs +1 more)
Microsatellite
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Y38*)
Single nucleotide variant
(nonsense +1 more)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(F8fs)
Insertion
(frameshift variant +1 more)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(N564fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(N602fs +1 more)
Indel
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(D100fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(R562* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(F568fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(E503* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(R121fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
Insertion
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(V645fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(E150fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(A131fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
GPathogenic
MTTP
(I464fs +1 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MTTP
(E462V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MTTP
(P205H +1 more)
Single nucleotide variant
(missense variant)
Metabolic syndrome X
+2 more
GUncertain significance
MTTP
(A381E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTTP
(T434I +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
+2 more
GUncertain significance
MTTP
Single nucleotide variant
(splice donor variant)
Abetalipoproteinaemia
GPathogenic
MTTP
Deletion
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(N791D +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
Single nucleotide variant
(3 prime UTR variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
(G151S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTTP
(N468I +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
(H22Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MTTP
(G809R +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
(D710A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MTTP
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTTP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MTTP
(G49fs)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
MTTP
(N140fs +1 more)
Duplication
(frameshift variant)
MTTP-related condition
+2 more
GPathogenic
MTTP
(I567fs +1 more)
Deletion
(frameshift variant)
Abetalipoproteinaemia
+1 more
GPathogenic/Likely pathogenic
MTTP
(H181Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(Q586R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(P431S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(T700I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(M346T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(N359S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTTP
Single nucleotide variant
(splice acceptor variant)
Abetalipoproteinaemia
+1 more
GLikely pathogenic
MTTP
Single nucleotide variant
(intron variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
(E777* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GPathogenic
MTTP
(I103M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(T202M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(I463V +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
+2 more
GUncertain significance
MTTP
(M111T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(R689H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(F568L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(T806N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MTTP
(G639D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(R543C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(A494T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MTTP
(A144P +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
GUncertain significance
MTTP
(I12V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MTTP
(K112* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(E134* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Q120* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Q671* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(G626* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(L591* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Y570* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(K490* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Q486* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(L373* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(E360* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Q358* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(E290* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(Q284* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(L273* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(C218* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(K176* +1 more)
Single nucleotide variant
(nonsense)
Abetalipoproteinaemia
GLikely pathogenic
MTTP
(L44V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MTTP
(M877V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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