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Items: 1 to 100 of 178

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAM15, ADAM15-EFNA4
+297 more
Copy number gain
See cases
GPathogenic
ASH1L, ASH1L-AS1
+45 more
Copy number gain
See cases
GUncertain significance
MSTO1
Single nucleotide variant
not provided
GBenign
MSTO1
Single nucleotide variant
not provided
GBenign
MSTO1
Single nucleotide variant
not provided
GBenign
MSTO1
Deletion
not provided
GBenign
MSTO1
(M1L)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GLikely pathogenic
MSTO1
(A5V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely benign
MSTO1
(V8M)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
MSTO1
(Q12E)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MSTO1
(H15R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MSTO1
(A22E)
Single nucleotide variant
(5 prime UTR variant +2 more)
See cases
GLikely pathogenic
MSTO1
(Q27*)
Single nucleotide variant
(nonsense +2 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GPathogenic
MSTO1
(G33R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(R34*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
MSTO1
(S38C)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(P41T)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
MSTO1
(G43A)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(R52S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MSTO1
(Y63S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MSTO1
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GUncertain significance
MSTO1
(D88Y)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GUncertain significance
MSTO1
(A94T)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GUncertain significance
MSTO1
(Q98R)
Single nucleotide variant
(missense variant +3 more)
not provided
GConflicting classifications of pathogenicity
MSTO1
(A5P +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(T102I)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
+1 more
GUncertain significance
MSTO1
(L108F +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
MSTO1
(P113A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MSTO1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely pathogenic
MSTO1
(L58P)
Single nucleotide variant
(missense variant +3 more)
not provided
GBenign
MSTO1
(V124M +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(R77K +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MSTO1
Single nucleotide variant
(intron variant)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GUncertain significance
MSTO1
(A93T +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
MSTO1
(A148V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
MSTO1
(R120W +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MSTO1
(G132E +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
MSTO1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
+1 more
GBenign
MSTO1
(R13W +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MSTO1
(D158N +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSTO1
(H161R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSTO1
(H161Q +4 more)
Single nucleotide variant
(missense variant +1 more)
MSTO1-related disorder
GUncertain significance
MSTO1
(F162L +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MSTO1
(Y37F +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(Q226* +4 more)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GLikely pathogenic
MSTO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSTO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSTO1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MSTO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSTO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MSTO1
(L53V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(D181H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
MSTO1
(D181G +4 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MSTO1
(G182S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MSTO1
(S184Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GUncertain significance
MSTO1
(G187D +4 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GUncertain significance
MSTO1
(A62T +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(K244N +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
MSTO1-related disorder
GLikely benign
MSTO1
(R201G +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSTO1
(R201Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
GLikely pathogenic
MSTO1
(I203V +4 more)
Single nucleotide variant
(missense variant +1 more)
MSTO1-related disorder
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MSTO1
(Y90C +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
MSTO1-related disorder
GLikely benign
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MSTO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSTO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSTO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSTO1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MSTO1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
MSTO1
(Y100C +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MSTO1
(R279H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MSTO1
(V107M +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MSTO1
(A115V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSTO1
(S114F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MSTO1
(L115fs +4 more)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
MSTO1
(P121T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSTO1
(L119V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(L121F +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MSTO1
(G130V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
MSTO1
(E133K +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSTO1
(S134N +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
MSTO1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
MSTO1
Single nucleotide variant
(intron variant)
not provided
GBenign
MSTO1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
MSTO1
(T324I +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MSTO1
(S149N +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MSTO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MSTO1
(T160A +4 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
+1 more
GUncertain significance
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