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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAGE3, LOC130068876
(I62V)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 2, X-linked
GUncertain significance
LAGE3
(P88S)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 2, X-linked
GUncertain significance
LAGE3
(M1R)
Single nucleotide variant
(missense variant +1 more)
Galloway-Mowat syndrome 2, X-linked
GUncertain significance
LAGE3
Single nucleotide variant
(splice acceptor variant)
Galloway-Mowat syndrome 2, X-linked
GUncertain significance
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
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
LAGE3
(I121T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
LAGE3, LOC130068876
Single nucleotide variant
(splice donor variant)
Galloway-Mowat syndrome 2, X-linked
GPathogenic
LAGE3
(F137S)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 2, X-linked
GPathogenic
LAGE3
(V106F)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 2, X-linked
GPathogenic
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