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Links from Gene

Items: 1 to 100 of 496

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNT3
(S341L)
Single nucleotide variant
(missense variant)
GALNT3-related disorder
GUncertain significance
GALNT3
(M62L)
Single nucleotide variant
(missense variant)
GALNT3-related disorder
GUncertain significance
GALNT3
(K371R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GALNT3
(V70A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GALNT3
Duplication
not provided
GLikely pathogenic
GALNT3
Deletion
not provided
GPathogenic
GALNT3
Deletion
not provided
GPathogenic
GALNT3
Deletion
not provided
GPathogenic
GALNT3
(R203K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GALNT3
(V616M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GALNT3
(R553Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GALNT3
(Q404H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCB11, B3GALT1
+14 more
Copy number loss
not specified
GPathogenic
ABCB11, B3GALT1
+57 more
Copy number loss
not specified
GPathogenic
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
(R261G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
(F314fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GALNT3
(S50*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Microsatellite
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GBenign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
(R438L)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
(Y380*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
(G83fs)
Duplication
(frameshift variant)
not provided
GPathogenic
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
(L366R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
(Y576*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GALNT3
(G540fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GALNT3
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
(I407F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Deletion
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
GALNT3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GALNT3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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