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Links from Gene

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPM6
(S1000fs +1 more)
Duplication
(frameshift variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
(S190C +1 more)
Single nucleotide variant
(missense variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
(V1735L +1 more)
Single nucleotide variant
(missense variant)
Intestinal hypomagnesemia 1
GUncertain significance
LOC113839559, TRPM6
(P4S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC113839559, TRPM6
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC113839559, TRPM6
(T2I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
LOC113839559, TRPM6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
LOC113839559, TRPM6
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM6
(Y1447C +1 more)
Single nucleotide variant
(missense variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
(L1141fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
TRPM6
(F1069fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
TRPM6
(P772A +1 more)
Indel
(missense variant)
not provided
GUncertain significance
TRPM6
(H1867R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
TRPM6
Single nucleotide variant
Intestinal hypomagnesemia 1
GPathogenic
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