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Links from Gene

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996828, RRAGD
(I100R)
Single nucleotide variant
(missense variant)
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy
GLikely pathogenic
LOC129996831, RRAGD
(G45C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996825, RRAGD
(K379N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996831, RRAGD
(D23E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996831, RRAGD
(L28P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996831, RRAGD
(G34V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996831, RRAGD
(E13K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996831, RRAGD
(D36G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129996828, RRAGD
Single nucleotide variant
(missense variant)
HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY
GPathogenic
LOC129996828, RRAGD
(P119R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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