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 323

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMADHC
Deletion
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
Deletion
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
(Q90*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
(S53fs)
Deletion
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
(Q124fs)
Duplication
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
Deletion
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GBenign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
(W189*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
LOC126806368, MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
LOC126806368, MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Deletion
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Deletion
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
LOC126806368, MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
(E131fs)
Duplication
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
(C212fs)
Duplication
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Microsatellite
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
(W57*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
LOC126806368, MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Duplication
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
(Q180*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Single nucleotide variant
(intron variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
(R8fs)
Duplication
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely benign
MMADHC
Duplication
(nonsense +1 more)
Methylmalonic aciduria and homocystinuria type cblD
GPathogenic
MMADHC
Deletion
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
(A222fs)
Deletion
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
(E247*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
(V188fs)
Deletion
(frameshift variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
Deletion
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
(L252*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria and homocystinuria type cblD
GLikely pathogenic
MMADHC
(S228*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria and homocystinuria type cblD
+1 more
GPathogenic/Likely pathogenic
LOC126806368, MMADHC
Single nucleotide variant
(splice donor variant)
Cobalamin C disease
+1 more
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination