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Links from MedGen

Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH6A1, BBOF1
(R334* +2 more)
Single nucleotide variant
(nonsense +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
(I83T)
Single nucleotide variant
(missense variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
(R445Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ALDH6A1, BBOF1
(Q436R +2 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
(H122R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BBOF1, ALDH6A1
(P421S +2 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GPathogenic
ALDH6A1
Single nucleotide variant
(5 prime UTR variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH6A1, BBOF1
(A132S +2 more)
Single nucleotide variant
(missense variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(synonymous variant)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GLikely benign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GBenign/Likely benign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
(V49I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH6A1, BBOF1
(S51P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH6A1, BBOF1
(M79V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
BBOF1, ALDH6A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GBenign
BBOF1, ALDH6A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
BBOF1, ALDH6A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(synonymous variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
(G216R +2 more)
Single nucleotide variant
(missense variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GLikely benign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
BBOF1, ALDH6A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GLikely benign
ALDH6A1, BBOF1
(D250Y +2 more)
Single nucleotide variant
(missense variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(synonymous variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GLikely benign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GLikely benign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
BBOF1, ALDH6A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GBenign
BBOF1, ALDH6A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
(N65S)
Single nucleotide variant
(missense variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GConflicting classifications of pathogenicity
ALDH6A1, BBOF1
(F33I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GLikely benign
ALDH6A1, BBOF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
(W27*)
Single nucleotide variant
(nonsense +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
BBOF1, ALDH6A1
Single nucleotide variant
(splice acceptor variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
(M280fs +2 more)
Duplication
(frameshift variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
(R386* +2 more)
Single nucleotide variant
(nonsense)
Methylmalonate semialdehyde dehydrogenase deficiency
+2 more
GConflicting classifications of pathogenicity
ALDH6A1
Single nucleotide variant
(5 prime UTR variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
BBOF1, ALDH6A1
Single nucleotide variant
(intron variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
Microsatellite
(intron variant)
not provided
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
Microsatellite
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
BBOF1, ALDH6A1
Single nucleotide variant
(synonymous variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
(E267K +2 more)
Single nucleotide variant
(missense variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
Duplication
(intron variant)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GBenign/Likely benign
ALDH6A1, BBOF1
(N303S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(synonymous variant)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
(V466A +2 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
ALDH6A1, BBOF1
(G467E +2 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GUncertain significance
ALDH6A1, BBOF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALDH6A1, BBOF1
(E519del +2 more)
Microsatellite
(inframe_deletion +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
+1 more
GUncertain significance
ALDH6A1, BBOF1
(R535H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
BBOF1, ALDH6A1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
BBOF1, ALDH6A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GLikely benign
ALDH6A1, BBOF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Methylmalonate semialdehyde dehydrogenase deficiency
GUncertain significance
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