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Links from MedGen

Items: 1 to 100 of 198

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AUH
Single nucleotide variant
(intron variant +1 more)
3-methylglutaconic aciduria type 1
GPathogenic
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(synonymous variant +1 more)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
Single nucleotide variant
(synonymous variant +1 more)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
Single nucleotide variant
(synonymous variant +1 more)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
(F157fs +1 more)
Deletion
(frameshift variant +1 more)
3-methylglutaconic aciduria type 1
GPathogenic
AUH
(V173fs +2 more)
Duplication
(frameshift variant)
3-methylglutaconic aciduria type 1
GPathogenic
AUH, LOC130002059
Single nucleotide variant
(synonymous variant +1 more)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
Single nucleotide variant
(synonymous variant +1 more)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
Single nucleotide variant
(synonymous variant +1 more)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
(M1V)
Single nucleotide variant
(missense variant +2 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH, NFIL3
+1 more
Duplication
not provided
GUncertain significance
AUH
Deletion
3-methylglutaconic aciduria type 1
GLikely pathogenic
AUH, LOC130002059
(G66A)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH, LOC130002059
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
(A7E)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(I27M +1 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(synonymous variant +1 more)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
(A8V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
(P224T +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
LOC130002059, AUH
(Q52H)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(A114G +1 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(K270R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AUH
(G140V +1 more)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(L216V +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
+1 more
GUncertain significance
AUH
(A202G +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
(N57K +1 more)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(M149V +1 more)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(P47S +1 more)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH, LOC130002059
(L36P)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
(S68R)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
Duplication
(inframe_insertion +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
(Q151H +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(I176V +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(E138A +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(R117H +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH, LOC130002059
(S14fs)
Duplication
(frameshift variant +1 more)
3-methylglutaconic aciduria type 1
GPathogenic
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(I128V +1 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH, LOC130002059
(A4T)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
(G191R +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH, LOC130002059
(H16R)
Single nucleotide variant
(5 prime UTR variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(P156R +1 more)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH, LOC130002059
Single nucleotide variant
(5 prime UTR variant +1 more)
3-methylglutaconic aciduria type 1
GLikely benign
AUH, LOC130002059
(R78W)
Single nucleotide variant
(5 prime UTR variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Duplication
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Deletion
(intron variant)
3-methylglutaconic aciduria type 1
GBenign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Deletion
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Deletion
(intron variant)
3-methylglutaconic aciduria type 1
GBenign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GBenign
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(synonymous variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
Single nucleotide variant
(intron variant)
3-methylglutaconic aciduria type 1
GLikely benign
AUH
(D58N +1 more)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH, LOC130002059
(P9A)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(A157V +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(K217E +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(M121I +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(H81Q)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(S50C +1 more)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(I129V +1 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(V284I +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
+1 more
GUncertain significance
AUH
(K35E +1 more)
Single nucleotide variant
(intron variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(A8V +1 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(F278S +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(R178T +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(R212* +2 more)
Single nucleotide variant
(nonsense)
3-methylglutaconic aciduria type 1
GPathogenic
AUH
(S102L)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
Duplication
3-methylglutaconic aciduria type 1
GPathogenic
AUH
(P224L +3 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
AUH
(E280A +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylglutaconic aciduria type 1
+1 more
GUncertain significance
AUH
(G110A +2 more)
Single nucleotide variant
(missense variant)
3-methylglutaconic aciduria type 1
GUncertain significance
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