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Links from MedGen

Items: 1 to 100 of 359

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAFAZZIN
Deletion
(intron variant)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
DNASE1L1, LOC130068869
+1 more
(G29R)
Single nucleotide variant
(missense variant +2 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
DNASE1L1, LOC130068869
+1 more
Single nucleotide variant
(synonymous variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Deletion
(splice acceptor variant)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Deletion
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(G124E +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(K181M +2 more)
Single nucleotide variant
(missense variant +2 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN, DNASE1L1
+1 more
Single nucleotide variant
(5 prime UTR variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(E176* +2 more)
Single nucleotide variant
(nonsense +2 more)
3-Methylglutaconic aciduria type 2
GPathogenic
TAFAZZIN
Microsatellite
(non-coding transcript variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(L78H +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
DNASE1L1, LOC130068869
+1 more
(T18I)
Single nucleotide variant
(5 prime UTR variant +2 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(T249I +5 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(non-coding transcript variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
DNASE1L1, LOC130068869
+1 more
Single nucleotide variant
(synonymous variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(D74E +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(C159Y +5 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(I191M +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(R186C +5 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(C72F +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(splice donor variant)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(W79* +1 more)
Single nucleotide variant
(nonsense +1 more)
TAFAZZIN-related condition
+1 more
GPathogenic
TAFAZZIN
Single nucleotide variant
(splice donor variant)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(G58fs +1 more)
Deletion
(frameshift variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(L100P +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(E206fs +5 more)
Insertion
(frameshift variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(D101V +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(R112G +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(D74E +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(S71P +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Indel
(nonsense +2 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(C159* +5 more)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(E55* +1 more)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
DNASE1L1, TAFAZZIN
Deletion
(5 prime UTR variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
DNASE1L1, LOC130068869
+1 more
(W17*)
Single nucleotide variant
(5 prime UTR variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(E206* +5 more)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(W113* +1 more)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(G131R +3 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(F148S +3 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(I165N +5 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(R248fs +5 more)
Duplication
(frameshift variant +1 more)
3-Methylglutaconic aciduria type 2
GPathogenic
DNASE1L1, LOC130068869
+1 more
(L19fs)
Deletion
(5 prime UTR variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(F104V +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(L136* +3 more)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 2
GPathogenic
TAFAZZIN
Deletion
(inframe_deletion +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(L50P +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(L168P +5 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(I191fs +5 more)
Duplication
(frameshift variant +1 more)
3-Methylglutaconic aciduria type 2
GPathogenic
TAFAZZIN
(G124R +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(K117E +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(I54N +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(splice donor variant)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
TAFAZZIN
(L138V +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Duplication
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Duplication
3-Methylglutaconic aciduria type 2
GUncertain significance
ATP6AP1, FAM50A
+10 more
Duplication
not provided
GUncertain significance
ABCD1, ARHGAP4
+73 more
Deletion
X-linked Emery-Dreifuss muscular dystrophy
+8 more
GPathogenic
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Deletion
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(R233Q +5 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
DNASE1L1, LOC130068869
+1 more
(A42T)
Single nucleotide variant
(5 prime UTR variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(R221Q +5 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
DNASE1L1, TAFAZZIN
Single nucleotide variant
(5 prime UTR variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GLikely benign
DNASE1L1, LOC130068869
+1 more
Single nucleotide variant
(synonymous variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(M155V +2 more)
Single nucleotide variant
(missense variant +2 more)
3-Methylglutaconic aciduria type 2
GConflicting classifications of pathogenicity
TAFAZZIN
(P179fs +2 more)
Deletion
(frameshift variant +1 more)
3-Methylglutaconic aciduria type 2
GPathogenic
TAFAZZIN
Deletion
(intron variant)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(intron variant)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(Q147* +1 more)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
(F162fs +1 more)
Deletion
(frameshift variant +2 more)
3-Methylglutaconic aciduria type 2
GPathogenic
TAFAZZIN
Single nucleotide variant
(synonymous variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(T61S +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Single nucleotide variant
(synonymous variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(Y51* +1 more)
Single nucleotide variant
(nonsense +1 more)
3-Methylglutaconic aciduria type 2
GPathogenic
DNASE1L1, LOC130068869
+1 more
(A42fs)
Deletion
(5 prime UTR variant +2 more)
3-Methylglutaconic aciduria type 2
GLikely benign
TAFAZZIN
(F127V +1 more)
Single nucleotide variant
(missense variant +1 more)
3-Methylglutaconic aciduria type 2
GUncertain significance
TAFAZZIN
Deletion
(intron variant +1 more)
3-Methylglutaconic aciduria type 2
GLikely pathogenic
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