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Links from MedGen

Items: 1 to 100 of 538

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMACHC
(P225R +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(S207N +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(S207R +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(P198L +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(L193I +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(L236S +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(R173Q +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
LOC129930446, MMACHC
(Q172fs +1 more)
Deletion
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
LOC129930446, MMACHC
(Q162E +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC, LOC129930446
(D145Y +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(F198L +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(R186K +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(W100del +1 more)
Deletion
Cobalamin C disease
GUncertain significance
MMACHC
(I45V +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
(S54G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GUncertain significance
MMACHC
(A49V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GUncertain significance
MMACHC
(P36R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GUncertain significance
MMACHC
(F26L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GUncertain significance
MMACHC
(L16P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GUncertain significance
MMACHC
(Q10H)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GUncertain significance
LOC129930446, MMACHC
(T147I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMACHC, PRDX1
Deletion
Cobalamin C disease
GPathogenic
MMACHC
(Q181* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
GConflicting classifications of pathogenicity
MMACHC
(G178fs +1 more)
Deletion
(frameshift variant)
Cobalamin C disease
GUncertain significance
MMACHC
Single nucleotide variant
(splice acceptor variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
(P152del +1 more)
Deletion
(inframe_deletion)
Cobalamin C disease
GLikely pathogenic
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Deletion
(5 prime UTR variant)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
LOC129930446, MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
(S214G +1 more)
Inversion
(missense variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
LOC129930446, MMACHC
(R157fs +1 more)
Duplication
(frameshift variant)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
(L37fs +1 more)
Deletion
(frameshift variant)
Cobalamin C disease
GPathogenic
MMACHC
(P152fs +1 more)
Duplication
(frameshift variant)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
(I103fs +1 more)
Deletion
(frameshift variant)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Deletion
(splice donor variant)
Cobalamin C disease
GLikely pathogenic
LOC129930446, MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
(I12fs)
Deletion
(5 prime UTR variant +1 more)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
LOC129930446, MMACHC
(Y148* +1 more)
Duplication
(nonsense)
Cobalamin C disease
GPathogenic/Likely pathogenic
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Deletion
(intron variant)
Cobalamin C disease
GBenign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Deletion
(intron variant)
Cobalamin C disease
GConflicting classifications of pathogenicity
MMACHC
(L43fs)
Deletion
(5 prime UTR variant +1 more)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely benign
MMACHC
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
(Y31*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GPathogenic
MMACHC
Insertion
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(splice acceptor variant)
Cobalamin C disease
GLikely pathogenic
LOC129930446, MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
ABCD4
(Y213fs +7 more)
Duplication
(frameshift variant +1 more)
Cobalamin C disease
GPathogenic
MMACHC
Single nucleotide variant
(splice donor variant)
Cobalamin C disease
GPathogenic/Likely pathogenic
MMACHC
(P18S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GUncertain significance
LOC129930446, MMACHC
(Q155fs +1 more)
Deletion
(frameshift variant)
Cobalamin C disease
GPathogenic
LOC129930446, MMACHC
Deletion
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
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