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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+331 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
LOC129934355, LOC129934356
+348 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+207 more
Copy number gain
See cases
GUncertain significance
AFF3, C2orf15
+373 more
Copy number gain
See cases
GPathogenic
AFF3, C2orf15
+114 more
Copy number loss
See cases
GLikely pathogenic
COA5
Single nucleotide variant
(3 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
COA5
(A66V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
COA5
Single nucleotide variant
(intron variant)
not provided
GBenign
COA5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COA5
(A53T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COA5
(A53P)
Single nucleotide variant
(missense variant)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
GPathogenic
COA5
(R39Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COA5
(P38L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
COA5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
COA5
Single nucleotide variant
(intron variant)
not provided
GBenign
COA5
Duplication
(intron variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(intron variant)
not provided
GBenign
COA5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(intron variant)
not provided
GBenign
COA5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COA5
(P9L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
COA5
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
COA5
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
COA5
Single nucleotide variant
not provided
GBenign
COA5, UNC50
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ACTR1B, ADRA2B
+64 more
Copy number gain
not provided
GLikely pathogenic
ACTR1B, ADRA2B
+54 more
Copy number gain
not provided
GLikely pathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
ACTR1B, ADRA2B
+86 more
Copy number gain
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+88 more
Copy number gain
See cases
GPathogenic
AFF3, ADRA2B
+53 more
Copy number gain
See cases
GPathogenic
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