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Links from MedGen

Items: 1 to 100 of 845

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFSD8
Deletion
Neuronal ceroid lipofuscinosis 7
GLikely pathogenic
MFSD8
Deletion
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
Deletion
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
Deletion
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
(A155T +8 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(Q300* +8 more)
Single nucleotide variant
(nonsense +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely pathogenic
MFSD8
(S84fs +1 more)
Microsatellite
(frameshift variant)
Neuronal ceroid lipofuscinosis 7
GLikely pathogenic
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Microsatellite
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Microsatellite
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(A361G +8 more)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +2 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 7
GLikely pathogenic
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(I224fs +8 more)
Deletion
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(P318fs +8 more)
Deletion
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(A244D +8 more)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(T45fs)
Duplication
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
Single nucleotide variant
(intron variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(W206* +8 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +2 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(M1K)
Single nucleotide variant
(missense variant +3 more)
Neuronal ceroid lipofuscinosis 7
GLikely pathogenic
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely pathogenic
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +2 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(G360V +8 more)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Insertion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Duplication
(intron variant)
Neuronal ceroid lipofuscinosis 7
GBenign
MFSD8
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 7
GLikely pathogenic
MFSD8
(C119* +1 more)
Insertion
(nonsense)
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis 7
GLikely pathogenic
MFSD8
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
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