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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTTP
(Q95H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MTTP
(T123M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MTTP
(I128T +1 more)
Single nucleotide variant
(missense variant)
Abetalipoproteinaemia
+3 more
GBenign/Likely benign
MTTP
(N140S +1 more)
Single nucleotide variant
(missense variant)
MTTP-related condition
+2 more
GConflicting classifications of pathogenicity
MTTP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
MTTP
(K184N +1 more)
Single nucleotide variant
(missense variant)
MTTP-related condition
+3 more
GLikely benign
MTTP
(D384A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
MTTP
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MTTP
(N572S +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MTTP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
MTTP
Single nucleotide variant
(synonymous variant)
Abetalipoproteinaemia
+1 more
GConflicting classifications of pathogenicity
MTTP
(L811F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTTP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
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