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Links from MedGen

Items: 1 to 100 of 505

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
MMACHC, LOC129930446
(Y148* +1 more)
Duplication
(nonsense)
Cobalamin C disease
GPathogenic
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
GLikely benign
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
(missense 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
MMACHC, LOC129930446
(Q155fs +1 more)
Deletion
(frameshift variant)
Cobalamin C disease
GPathogenic
LOC129930446, MMACHC
Deletion
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
(D20fs +1 more)
Microsatellite
(frameshift variant)
Cobalamin C disease
GPathogenic
LOC129930446, MMACHC
(P169fs +1 more)
Microsatellite
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
(H151fs +1 more)
Deletion
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
(E184fs +1 more)
Duplication
(frameshift variant)
Cobalamin C disease
GUncertain significance
MMACHC
(F66fs +1 more)
Duplication
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
Deletion
(nonsense)
Cobalamin C disease
GLikely pathogenic
MMACHC
(H151R +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
Single nucleotide variant
(splice acceptor variant)
Cobalamin C disease
GPathogenic
LOC129930446, MMACHC
(W143fs +1 more)
Deletion
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
(C125* +1 more)
Duplication
(nonsense)
Cobalamin C disease
GPathogenic/Likely pathogenic
MMACHC
(C17*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cobalamin C disease
GLikely pathogenic
MMACHC
Deletion
Cobalamin C disease
GLikely pathogenic
MMACHC
(G105W +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GPathogenic
MMADHC
(Q68fs)
Deletion
(frameshift variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
(N110fs +1 more)
Indel
(frameshift variant)
Cobalamin C disease
GPathogenic
ABCD4
(P289fs +8 more)
Microsatellite
(frameshift variant +1 more)
Cobalamin C disease
GLikely pathogenic
LMBRD1
(Y303* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
GLikely pathogenic
LOC126806368, MMADHC
Single nucleotide variant
(splice donor variant)
Cobalamin C disease
+1 more
GLikely pathogenic
LOC129930446, MMACHC
(Q172* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
GLikely pathogenic
MMACHC
(A120S +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC, PRDX1
Duplication
Cobalamin C disease
GUncertain significance
MMACHC
Single nucleotide variant
(intron variant)
Cobalamin C disease
GLikely benign
MMACHC
(F195L +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GUncertain significance
MMACHC
Single nucleotide variant
(synonymous variant)
Cobalamin C disease
GLikely benign
MMACHC
(G98R +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
GLikely pathogenic
MMACHC
(V5fs)
Deletion
(5 prime UTR variant +1 more)
Cobalamin C disease
GPathogenic
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