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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(T434I +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
+2 more
GUncertain significance
MTTP
(G49fs)
Deletion
(frameshift variant +1 more)
Metabolic syndrome X
+2 more
GPathogenic/Likely pathogenic
MTTP
(I463V +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
+2 more
GUncertain significance
MTTP
Single nucleotide variant
(splice donor variant)
Abetalipoproteinaemia
+2 more
GPathogenic
MTTP
(I128T +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
+3 more
GBenign/Likely benign
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