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Items: 1 to 100 of 951

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GBenign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GBenign
MFSD8
Deletion
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GBenign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GBenign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Duplication
(3 prime UTR variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GBenign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(stop lost)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
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
(Q412R +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(Y408C +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(R512K +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
+1 more
GUncertain significance
MFSD8
(R445G +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
+1 more
GLikely benign
MFSD8
(I507M +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(L412P +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(L506V +9 more)
Single nucleotide variant
(missense variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GLikely benign
MFSD8
(K410R +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(Y398* +9 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
+1 more
GLikely benign
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(T403I +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
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
(L456P +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(L344F +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(I492T +9 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MFSD8
(I425V +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GConflicting classifications of pathogenicity
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
Indel
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(W378* +9 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(R332P +9 more)
Single nucleotide variant
(missense variant +1 more)
Cone-rod dystrophy
GUncertain significance
MFSD8
(R482Q +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(R482* +9 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
MFSD8
(P432A +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(G375V +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
+1 more
GConflicting classifications of pathogenicity
MFSD8
(W374* +9 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 7
GPathogenic
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(H429Q +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(H411L +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(A477T +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(Y371C +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis 7
GLikely benign
MFSD8
(V437L +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MFSD8
(Q476E +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MFSD8
(Q369* +9 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
MFSD8
(S475N +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(S368G +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
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
+1 more
GLikely benign
MFSD8
(I367N +9 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 7
GUncertain significance
MFSD8
(F366fs +8 more)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 7
GPathogenic
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