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Items: 1 to 100 of 446

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006205, LOC130006206
+282 more
Copy number loss
See cases
GPathogenic
RIN1, RPS6KB2
+212 more
Copy number gain
See cases
GPathogenic
ACY3, AIP
+129 more
Copy number loss
See cases
GPathogenic
ACY3, AIP
+206 more
Copy number loss
See cases
GLikely pathogenic
ACY3, AIP
+54 more
Copy number loss
See cases
GBenign
ACY3, AIP
+98 more
Copy number loss
See cases
GPathogenic
ACY3, ALDH3B2
+22 more
Copy number gain
See cases
GUncertain significance
ACY3, ALDH3B2
+21 more
Copy number gain
See cases
GUncertain significance
ACY3, ALDH3B2
+21 more
Duplication
Normal pregnancy
Gnot provided
NDUFV1, NDUFV1-DT
Duplication
not provided
GLikely benign
NDUFV1, NDUFV1-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
NDUFV1
Single nucleotide variant
Leigh syndrome
+1 more
GUncertain significance
LOC130006217, NDUFV1
Single nucleotide variant
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
LOC130006217, NDUFV1
Single nucleotide variant
not provided
+2 more
GConflicting classifications of pathogenicity
LOC130006217, NDUFV1
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
LOC130006217, NDUFV1
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
LOC130006217, NDUFV1
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC130006217, NDUFV1
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
LOC130006217, NDUFV1
Deletion
(inframe_deletion +1 more)
Leigh syndrome
GLikely pathogenic
NDUFV1
(R5W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFV1
(R5Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(R15W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDUFV1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDUFV1
(V18fs)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
NDUFV1
(R19C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDUFV1
(R19P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NDUFV1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDUFV1
(S21T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GBenign
NDUFV1
Duplication
(intron variant)
not provided
GBenign
NDUFV1
Duplication
(intron variant)
not provided
GBenign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
NDUFV1
(A17T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
NDUFV1
(P27R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFV1
(S31P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(S25L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(D39G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NDUFV1
(R40G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NDUFV1
(R40Q +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+2 more
GConflicting classifications of pathogenicity
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(N44S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(R48C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NDUFV1
(R48S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFV1
(R39H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFV1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NDUFV1
(W42fs +1 more)
Deletion
(frameshift variant)
Mitochondrial complex 1 deficiency, nuclear type 4
GLikely pathogenic
NDUFV1
(W42* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
NDUFV1
Single nucleotide variant
(splice donor variant)
not specified
GLikely pathogenic
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Deletion
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
NDUFV1
(R43S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
NDUFV1
(K54N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDUFV1
(S47T +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
NDUFV1
(S56P +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
NDUFV1
(R59* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex 1 deficiency, nuclear type 4
+2 more
GPathogenic
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(W62* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(I68fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(P64S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NDUFV1
(P73L +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex I deficiency, nuclear type 1
+1 more
GUncertain significance
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
NDUFV1
(D74N +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDUFV1
(S74L +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex 1 deficiency, nuclear type 4
+1 more
GConflicting classifications of pathogenicity
NDUFV1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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