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Links from Gene

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAGE3, LOC130068876
Single nucleotide variant
(synonymous variant)
LAGE3-related disorder
GLikely benign
LAGE3, LOC130068876
(G9D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LAGE3, LOC130068876
Single nucleotide variant
(synonymous variant)
LAGE3-related disorder
GLikely benign
LAGE3, LOC130068876
Single nucleotide variant
(synonymous variant)
LAGE3-related disorder
GLikely benign
LAGE3, LOC130068876
(G11V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAGE3, LOC130068876
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAGE3, LOC130068876
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAGE3, LOC130068876
(G44V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAGE3, LOC130068876
(H61Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAGE3, LOC130068876
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAGE3, LOC130068876
(H21R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAGE3, LOC130068876
(I62V)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 2, X-linked
GUncertain significance
LAGE3, LOC130068876
(A32V)
Single nucleotide variant
(missense variant)
LAGE3-related disorder
GUncertain significance
LAGE3, LOC130068876
(R57*)
Single nucleotide variant
(nonsense)
LAGE3-related disorder
GUncertain significance
LAGE3, LOC130068876
(A37T)
Single nucleotide variant
(missense variant)
LAGE3-related disorder
GUncertain significance
LAGE3
Single nucleotide variant
(splice acceptor variant)
Galloway-Mowat syndrome 2, X-linked
GUncertain significance
LAGE3, LOC130068876
(R47G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LAGE3, LOC130068876
(T29A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LAGE3, LOC130068876
(A40fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
LAGE3, LOC130068876
(G46D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LAGE3, LOC130068876
(A40E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LAGE3, LOC130068876
(H41P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAGE3, LOC130068876
(G10R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAGE3, LOC130068876
(P43T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAGE3, LOC130068876
(G17D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LAGE3, LOC130068876
(R59W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LAGE3, LOC130068876
(S22fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
LAGE3, LOC130068876
Single nucleotide variant
(intron variant)
not provided
GBenign
LAGE3, LOC130068876
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LAGE3
(D96V)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 2, X-linked
GUncertain significance
LAGE3, LOC130068876
(G10E)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 2, X-linked
+1 more
GUncertain significance
LAGE3, LOC130068876
(P60L)
Single nucleotide variant
(missense variant)
not provided
GBenign
LAGE3, LOC130068876
(D16N)
Single nucleotide variant
(missense variant)
not provided
GBenign
LAGE3, LOC130068876
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LAGE3, LOC130068876
(R24H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
LAGE3, LOC130068876
(A31T)
Single nucleotide variant
(missense variant)
not provided
GBenign
LAGE3, LOC130068876
Single nucleotide variant
(splice donor variant)
Galloway-Mowat syndrome 2, X-linked
GPathogenic
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