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Items: 1 to 100 of 202

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABRAXAS2, ACADSB
+514 more
Copy number gain
See cases
GPathogenic
WDR11, WDR11-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
WDR11, WDR11-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
WDR11, WDR11-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
WDR11, WDR11-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
WDR11, WDR11-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
WDR11, WDR11-DT
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
WDR11
Single nucleotide variant
not provided
GBenign
WDR11
Single nucleotide variant
not provided
GBenign
WDR11
Single nucleotide variant
not provided
GBenign
WDR11
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
WDR11
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
WDR11
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
WDR11
(L2F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WDR11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 14 with or without anosmia
+1 more
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Microsatellite
(intron variant)
not provided
GBenign
WDR11
Microsatellite
(intron variant)
not provided
GBenign
WDR11
(L132V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WDR11
(I135N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR11
(S163fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
WDR11
(F166L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR11
(S172*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
(E240G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
WDR11
Duplication
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
(L303S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR11
(E329K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Microsatellite
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
Hypogonadotropic hypogonadism 14 with or without anosmia
+1 more
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
(K354E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR11
(V356I)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
(R448W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR11
Deletion
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
WDR11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Insertion
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Insertion
(intron variant)
not provided
GBenign
WDR11
Insertion
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Insertion
(intron variant)
not provided
GLikely benign
WDR11
Insertion
(intron variant)
not provided
GLikely benign
WDR11
Deletion
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Deletion
(intron variant)
not provided
GLikely benign
WDR11
Deletion
(intron variant)
not provided
GLikely benign
WDR11
Deletion
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Deletion
(intron variant)
not provided
GBenign
WDR11
Deletion
(intron variant)
not provided
GLikely benign
WDR11
Deletion
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Deletion
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
(S528fs)
Indel
(frameshift variant)
not provided
GUncertain significance
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Duplication
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
(A570T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WDR11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(intron variant)
not provided
GBenign
WDR11
Single nucleotide variant
(synonymous variant)
Hypogonadotropic hypogonadism 14 with or without anosmia
+1 more
GBenign
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