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Items: 1 to 100 of 134

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AKIRIN2, ANKRD6
+299 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+220 more
Copy number loss
See cases
GPathogenic
SMIM8, SNHG5
+247 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+157 more
Copy number loss
See cases
GPathogenic
LOC129389576, LOC129389577
+153 more
Copy number loss
See cases
GPathogenic
C6orf163, CFAP206
+16 more
Copy number loss
See cases
GUncertain significance
SLC35A1
Single nucleotide variant
not provided
GBenign
SLC35A1
Single nucleotide variant
not provided
GLikely benign
SLC35A1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GLikely benign
SLC35A1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
SLC35A1
Single nucleotide variant
(5 prime UTR variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GBenign
SLC35A1
(A3T)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(A3S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC35A1
Microsatellite
(intron variant)
not provided
GBenign
SLC35A1
Microsatellite
(intron variant)
not provided
GLikely benign
SLC35A1
Microsatellite
(intron variant)
not provided
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC35A1
(N7H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC35A1
(T28A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC35A1
(R32K)
Single nucleotide variant
(missense variant)
SLC35A1-related disorder
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC35A1
(T45A)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-related disorder
GLikely benign
SLC35A1
(V48M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
SLC35A1
(V93fs +1 more)
Single nucleotide variant
(synonymous variant +1 more)
SLC35A1-congenital disorder of glycosylation
GPathogenic
SLC35A1
(L57F)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GUncertain significance
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(V93fs)
Deletion
(frameshift variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
SLC35A1
(P94fs)
Deletion
(frameshift variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(Q101H)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GPathogenic
SLC35A1
(N102D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC35A1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SLC35A1
Deletion
(intron variant)
not provided
GBenign
SLC35A1
Deletion
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SLC35A1
(C127S)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SLC35A1
(S147P)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GPathogenic
SLC35A1
(V148I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC35A1
(T156M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC35A1
(T156R)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GPathogenic/Likely pathogenic
SLC35A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC35A1
(Q159*)
Single nucleotide variant
(nonsense)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(Q159R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(E171G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
SLC35A1
(L176del)
Microsatellite
(inframe_deletion)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(F190S)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC35A1
(E196K)
Single nucleotide variant
(missense variant +1 more)
SLC35A1-congenital disorder of glycosylation
GPathogenic/Likely pathogenic
SLC35A1
(D203G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC35A1
(M213I)
Single nucleotide variant
(missense variant +1 more)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(V225I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
SLC35A1
Single nucleotide variant
(synonymous variant +1 more)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(I233M)
Single nucleotide variant
(missense variant +1 more)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Deletion
(intron variant)
not provided
GBenign
SLC35A1
Insertion
(intron variant)
not provided
GBenign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GLikely benign
SLC35A1
(A253P +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(V255L +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
(Y200H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC35A1
(A219V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC35A1
(I226M +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
+1 more
GUncertain significance
SLC35A1
(I236L +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
Duplication
(intron variant)
SLC35A1-congenital disorder of glycosylation
GBenign
SLC35A1
Deletion
(intron variant)
SLC35A1-congenital disorder of glycosylation
GBenign
RARS2, SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
+4 more
GBenign/Likely benign
SLC35A1
Single nucleotide variant
(intron variant)
SLC35A1-congenital disorder of glycosylation
GLikely benign
SLC35A1
(L297R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SLC35A1
(T244S +1 more)
Single nucleotide variant
(missense variant)
SLC35A1-congenital disorder of glycosylation
GUncertain significance
SLC35A1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
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