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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDUFS6
(N12*)
Duplication
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
NDUFS6
(E37*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
NDUFS6
(K61fs)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 9
GLikely pathogenic
NDUFS6
(E62fs)
Microsatellite
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 9
GLikely pathogenic
NDUFS6
Single nucleotide variant
(splice donor variant)
Mitochondrial complex 1 deficiency, nuclear type 9
GLikely pathogenic
NDUFS6
Single nucleotide variant
(splice acceptor variant)
Mitochondrial complex 1 deficiency, nuclear type 9
GLikely pathogenic
NDUFS6
Single nucleotide variant
(splice acceptor variant)
Mitochondrial complex 1 deficiency, nuclear type 9
+1 more
GLikely pathogenic
NDUFS6
(E81fs)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 9
+1 more
GPathogenic/Likely pathogenic
NDUFS6
(I101fs)
Microsatellite
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 9
GLikely pathogenic
NDUFS6
Single nucleotide variant
(splice donor variant)
Mitochondrial complex 1 deficiency, nuclear type 9
+1 more
GPathogenic/Likely pathogenic
NDUFS6
Single nucleotide variant
(splice donor variant)
Mitochondrial complex 1 deficiency, nuclear type 9
+1 more
GPathogenic/Likely pathogenic
NDUFS6
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NDUFS6
(K105fs)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 9
GLikely pathogenic
NDUFS6
(T107fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
NDUFS6
(C115Y)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 9
+1 more
GLikely pathogenic
ADAMTS16, ADCY2
+40 more
Copy number loss
5p partial monosomy syndrome
GPathogenic
ADAMTS16, ADCY2
+67 more
Copy number loss
5p partial monosomy syndrome
GPathogenic
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