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Items: 1 to 100 of 317

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
MICU1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
MICU1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
MICU1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(A274T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(Q465P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
(A266V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
(M462V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
(Q260K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(R442Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(E229K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(N227S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Microsatellite
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(A424V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MICU1
(V412M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(R203S +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
Duplication
(intron variant)
not provided
GBenign/Likely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Duplication
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(H385R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
(H387P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(N177S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(N168H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
MICU1
Single nucleotide variant
(splice acceptor variant)
Proximal myopathy with extrapyramidal signs
+1 more
GPathogenic
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MICU1
(K153R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MICU1
(Q350* +3 more)
Single nucleotide variant
(nonsense)
Proximal myopathy with extrapyramidal signs
GPathogenic
MICU1
(R347S +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MICU1
(M147I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MICU1
(S337G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
(Y136C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(F329L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MICU1
(Q128R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MICU1
(R331fs +3 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
MICU1
(D118Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
(R116H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MICU1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MICU1
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
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