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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FASTKD2, LOC129935479
Single nucleotide variant
(5 prime UTR variant +1 more)
Combined oxidative phosphorylation deficiency 44
+2 more
GBenign/Likely benign
FASTKD2
(S10T)
Single nucleotide variant
(missense variant)
FASTKD2-related condition
+3 more
GConflicting classifications of pathogenicity
FASTKD2
(F78L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FASTKD2
(R201H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FASTKD2
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
FASTKD2
(I304V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FASTKD2
(I304T)
Single nucleotide variant
(missense variant)
FASTKD2-related condition
+3 more
GConflicting classifications of pathogenicity
FASTKD2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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