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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFSD8
(G468E +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MFSD8
(G385R +8 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
MFSD8
(L369F +9 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
+3 more
GBenign/Likely benign
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