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Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
MIR4455, MIR548T
+369 more
Copy number gain
See cases
GPathogenic
ADAM29, AGA
+103 more
Copy number loss
See cases
GPathogenic
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Deletion
(intron variant)
not provided
GLikely benign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TENM3
(P128L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TENM3
Duplication
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Microsatellite
(intron variant)
not provided
GBenign
TENM3
Microsatellite
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GBenign
TENM3
Deletion
(intron variant)
not provided
GLikely benign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
(P130S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TENM3
Microsatellite
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GLikely benign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
TENM3
(I317T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TENM3
(V233L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Insertion
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
(G588A)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
TENM3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
TENM3
(N329K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
Deletion
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
(A864S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
(N1054H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GLikely benign
TENM3
(M839V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TENM3
Single nucleotide variant
(intron variant)
Microphthalmia, isolated, with coloboma 9
+1 more
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
TENM3
Single nucleotide variant
(intron variant)
Microphthalmia, isolated, with coloboma 9
+1 more
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
(Y1145C +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
Duplication
(intron variant)
not provided
GLikely benign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Duplication
(intron variant)
not provided
GBenign
TENM3
Microsatellite
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
Microphthalmia, isolated, with coloboma 9
+1 more
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TENM3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
(D1482H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TENM3
(P1230L +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TENM3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
TENM3
Single nucleotide variant
(intron variant)
not provided
GBenign
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