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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFSD8
(I492T +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
MFSD8
(S402L +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MFSD8
(G385R +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
MFSD8
(E336K +8 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
+1 more
GUncertain significance
MFSD8
(E336Q +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MFSD8
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
MFSD8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MFSD8
(D296N +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MFSD8
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
MFSD8
(F219S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MFSD8
(V198M +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MFSD8
(G197D +3 more)
Single nucleotide variant
(missense variant +1 more)
MFSD8-related condition
+4 more
GConflicting classifications of pathogenicity
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
+1 more
GConflicting classifications of pathogenicity
MFSD8
(G77V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MFSD8
(P69L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MFSD8
Single nucleotide variant
(5 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 7
+1 more
GConflicting classifications of pathogenicity
MFSD8
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MFSD8
Single nucleotide variant
(synonymous variant +2 more)
Neuronal ceroid lipofuscinosis 7
+1 more
GConflicting classifications of pathogenicity
MFSD8
(M1L)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely pathogenic
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