U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 778

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTRR
Deletion
Methylcobalamin deficiency type cblE
GLikely pathogenic
MTRR
Deletion
Methylcobalamin deficiency type cblE
GPathogenic
MTRR
Deletion
Methylcobalamin deficiency type cblE
GPathogenic
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
(H339R)
Single nucleotide variant
(missense variant +1 more)
Methylcobalamin deficiency type cblE
GUncertain significance
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(non-coding transcript variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
(W492fs)
Deletion
(frameshift variant +1 more)
Methylcobalamin deficiency type cblE
GPathogenic
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Microsatellite
(splice donor variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
(S156*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Methylcobalamin deficiency type cblE
GPathogenic
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
(T303fs)
Deletion
(frameshift variant +1 more)
Methylcobalamin deficiency type cblE
GPathogenic
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(splice acceptor variant)
Methylcobalamin deficiency type cblE
GLikely pathogenic
MTRR
(Y44*)
Single nucleotide variant
(nonsense +1 more)
Methylcobalamin deficiency type cblE
GPathogenic
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(non-coding transcript variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Deletion
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Microsatellite
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(non-coding transcript variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(non-coding transcript variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Duplication
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
(Y44*)
Single nucleotide variant
(nonsense +1 more)
Methylcobalamin deficiency type cblE
GPathogenic
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
(I76fs)
Deletion
(frameshift variant +1 more)
Methylcobalamin deficiency type cblE
GPathogenic
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(non-coding transcript variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(intron variant)
Methylcobalamin deficiency type cblE
GLikely benign
MTRR
Single nucleotide variant
(synonymous variant +1 more)
Methylcobalamin deficiency type cblE
GLikely benign
Format
Items per page
Sort by
Choose Destination