U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-TF
Single nucleotide variant
Nephropathy, chronic tubulointerstitial
+2 more
GPathogenic/Likely pathogenic
CNNM2
(M383V)
Single nucleotide variant
(missense variant)
Hypomagnesemia
GPathogenic
CLDN10
(T123M +2 more)
Single nucleotide variant
(missense variant)
Hypokalemia
+3 more
GUncertain significance
MT-TF
Single nucleotide variant
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
+3 more
GUncertain significance
TRPM6
Deletion
(splice acceptor variant +1 more)
Hypomagnesemia
+2 more
GLikely pathogenic
Format
Sort by
Choose Destination