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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
LOC130064154, LOC130064155
+625 more
Copy number gain
See cases
GPathogenic
LOC130064074, NDUFA13
(M1T)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 1 deficiency, nuclear type 28
GUncertain significance
LOC130064074, NDUFA13
(K5N)
Single nucleotide variant
(missense variant)
Hurthle cell carcinoma of thyroid
GPathogenic
LOC130064074, NDUFA13
(V6A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064074, NDUFA13
(Q8E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130064074, NDUFA13
(M10V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064074, NDUFA13
(M10T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC130064074, NDUFA13
(M10I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064074, NDUFA13
(M10I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064074, NDUFA13
(P11T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064074, NDUFA13
(P11L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064074, NDUFA13
(Y16fs)
Duplication
(frameshift variant)
Hurthle cell carcinoma of thyroid
+1 more
GLikely pathogenic
LOC130064074, NDUFA13
(G14A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130064074, NDUFA13
(G15D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130064074, NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC130064074, NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130064074, NDUFA13
(R23fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
LOC130064074, NDUFA13
(L25W)
Single nucleotide variant
(missense variant)
not provided
GBenign
LOC130064074, NDUFA13
(S31A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130064074, NDUFA13
Single nucleotide variant
(splice donor variant)
Hurthle cell carcinoma of thyroid
+1 more
GLikely pathogenic
LOC130064074, NDUFA13
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC125371495, NDUFA13
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC125371495, NDUFA13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC125371495, NDUFA13
(Y33C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC125371495, NDUFA13
(L36P)
Single nucleotide variant
(missense variant)
Lactic acidosis
+5 more
GPathogenic
LOC125371495, NDUFA13
(T42N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC125371495, NDUFA13
(Y45C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC125371495, NDUFA13
(W48C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC125371495, NDUFA13
(R57H)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 28
GLikely pathogenic
LOC125371495, NDUFA13
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC125371495, NDUFA13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFA13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFA13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFA13
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
NDUFA13
(E63K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NDUFA13
(F65fs)
Deletion
(frameshift variant)
Lactic acidosis
+5 more
GPathogenic
NDUFA13
(I69M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFA13
(A70T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NDUFA13
(R81Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFA13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFA13
Duplication
(intron variant)
not provided
GBenign
NDUFA13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFA13
(Q85E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFA13
(R88W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFA13
Duplication
(splice donor variant)
not provided
GUncertain significance
NDUFA13
(W104R)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 28
GUncertain significance
NDUFA13
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFA13
(T113K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFA13
(P118S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFA13
(R128C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFA13
(E131G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFA13
(A133G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFA13
(L134F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFA13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFA13
(T144M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFA13
Single nucleotide variant
(stop lost)
Mitochondrial complex 1 deficiency, nuclear type 28
GUncertain significance
ARMC6, ATP13A1
+36 more
Copy number loss
not specified
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
BST2, NWD1
+158 more
Copy number gain
not provided
GPathogenic
ATP13A1, CILP2
+10 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ATP13A1, BORCS8
+49 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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