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Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
AASDH, ADGRL3
+244 more
Copy number gain
See cases
GPathogenic
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
AASDH, ADGRL3
+177 more
Copy number gain
See cases
GPathogenic
ENAM, LOC123477761
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992618, LOC129992619
+143 more
Copy number gain
See cases
GPathogenic
AASDH, ARL9
+136 more
Copy number loss
See cases
GPathogenic
AASDH, ADGRL3
+100 more
Copy number loss
See cases
GPathogenic
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(Y189S)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant +1 more)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(R200W)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(W201*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
SRD5A3, SRD5A3-AS1
(L205F)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(G206V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SRD5A3, SRD5A3-AS1
(M209I)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(I211M)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(H216fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GLikely benign
SRD5A3, SRD5A3-AS1
(G225S)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SRD5A3, SRD5A3-AS1
(K229R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRD5A3, SRD5A3-AS1
(A232E)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(splice donor variant +1 more)
SRD5A3-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
SRD5A3, SRD5A3-AS1
Deletion
(intron variant)
not provided
GBenign
SRD5A3, SRD5A3-AS1
Deletion
(intron variant)
not provided
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(intron variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(splice acceptor variant)
Abnormality of the nervous system
GLikely pathogenic
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-related disorder
GLikely benign
SRD5A3-AS1, SRD5A3
(F248L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SRD5A3, SRD5A3-AS1
(V206L +1 more)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(S208F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(V268I)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(F225L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SRD5A3, SRD5A3-AS1
(N274S)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(L275F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(V284G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SRD5A3, SRD5A3-AS1
(L290P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SRD5A3, SRD5A3-AS1
(V304A)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(P307L)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation
GLikely pathogenic
SRD5A3-AS1, SRD5A3
(H309D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(A312P)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(synonymous variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
(P270S +1 more)
Single nucleotide variant
(missense variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
(F318fs)
Deletion
(frameshift variant)
Generalized hypotonia
+6 more
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GLikely benign
SRD5A3, SRD5A3-AS1
Microsatellite
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SRD5A3, SRD5A3-AS1
Microsatellite
(3 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Deletion
(3 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
SRD5A3-AS1, SRD5A3
Microsatellite
(3 prime UTR variant)
Congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Microsatellite
(3 prime UTR variant)
Congenital disorder of glycosylation
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GLikely benign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
GUncertain significance
SRD5A3, SRD5A3-AS1
Single nucleotide variant
(3 prime UTR variant)
SRD5A3-congenital disorder of glycosylation
+1 more
GUncertain significance

Items: 1 to 100 of 128

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