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Items: 1 to 100 of 225

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
MIR4521, MIR497
+922 more
Copy number gain
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
ACADVL, ACAP1
+461 more
Copy number gain
See cases
GPathogenic
ADPRM, DHRS7C
+57 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADPRM, LOC112529895
+25 more
Copy number loss
See cases
GPathogenic
SCO1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GBenign
SCO1
Deletion
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(no sequence alteration)
not provided
+2 more
GBenign
SCO1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
+2 more
GBenign/Likely benign
SCO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+2 more
GBenign/Likely benign
SCO1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
GLikely benign
SCO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Leigh syndrome
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
SCO1
(M294K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SCO1
(I290V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SCO1
(G284R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
(K283R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCO1
(Q279*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
SCO1
(D275G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCO1
(P269L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
(L266F)
Single nucleotide variant
(missense variant)
Leigh syndrome
+1 more
GUncertain significance
SCO1
(I263V)
Single nucleotide variant
(missense variant)
Mitochondrial complex 4 deficiency, nuclear type 4
+3 more
GUncertain significance
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
Duplication
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
Deletion
(intron variant)
not provided
GBenign
SCO1
Deletion
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
Leigh syndrome
+2 more
GUncertain significance
SCO1
(I257L)
Single nucleotide variant
(missense variant)
Mitochondrial complex IV deficiency, nuclear type 1
+1 more
Gnot provided
SCO1
(D255del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
SCO1
(E254D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
(D253G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
(K250E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SCO1
(P249S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
SCO1-related disorder
+2 more
GLikely benign
SCO1
(P247L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(synonymous variant)
Leigh syndrome
+1 more
GUncertain significance
SCO1
(Y241C)
Single nucleotide variant
(missense variant)
Mitochondrial complex 4 deficiency, nuclear type 4
GUncertain significance
SCO1
(D235N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
(T230M)
Single nucleotide variant
(missense variant)
Mitochondrial complex IV deficiency, nuclear type 1
+2 more
GUncertain significance
SCO1
(V225I)
Single nucleotide variant
(missense variant)
Leigh syndrome
+2 more
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SCO1
(L224V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
Duplication
(intron variant)
SCO1-related disorder
GLikely benign
SCO1
Single nucleotide variant
(intron variant)
Mitochondrial complex 4 deficiency, nuclear type 4
+1 more
GLikely benign
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
Deletion
(intron variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SCO1
(V217L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
(A214T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SCO1
(I213V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
(K210Q)
Single nucleotide variant
(missense variant)
Mitochondrial complex IV deficiency, nuclear type 1
GUncertain significance
SCO1
(R207K)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
SCO1
Single nucleotide variant
(synonymous variant)
SCO1-related disorder
+3 more
GConflicting classifications of pathogenicity
SCO1
(T192A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
Microsatellite
(intron variant)
Mitochondrial complex 4 deficiency, nuclear type 4
GUncertain significance
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GBenign
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SCO1
(D185fs)
Deletion
(frameshift variant)
Mitochondrial complex 4 deficiency, nuclear type 4
GUncertain significance
SCO1
(V184fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SCO1
(V184M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SCO1
(P174L)
Single nucleotide variant
(missense variant)
Mitochondrial complex 4 deficiency, nuclear type 4
+1 more
GPathogenic/Likely pathogenic
SCO1
(V172G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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