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Links from MedGen

Items: 1 to 100 of 536

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(D361fs)
Deletion
(intron variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(A158T +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(Y418H +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(G517E)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(M379I +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(G290E)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(A279V)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(V237D)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(P233L)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(T244I +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(D202H)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(E92K +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GPathogenic
BTD
(V77M +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
(R15G)
Single nucleotide variant
(missense variant +3 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
(C403fs)
Deletion
(frameshift variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(L20P +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GLikely pathogenic
BTD
(R144fs)
Deletion
(frameshift variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(Q68*)
Single nucleotide variant
(nonsense)
Biotinidase deficiency
GPathogenic
BTD
(K13*)
Single nucleotide variant
(nonsense +3 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(P489R)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(V18fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GLikely pathogenic
BTD
(E26*)
Single nucleotide variant
(nonsense)
Biotinidase deficiency
GPathogenic
BTD
(Q116fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GPathogenic
BTD
(N469S +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
(Q316* +1 more)
Single nucleotide variant
(nonsense +1 more)
Biotinidase deficiency
GPathogenic
BTD
(Y37*)
Single nucleotide variant
(nonsense)
Biotinidase deficiency
GPathogenic
BTD
(F108V +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GLikely pathogenic
BTD
(K156* +1 more)
Single nucleotide variant
(nonsense +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(L56fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GLikely pathogenic
BTD
(E198D)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(A267fs)
Deletion
(frameshift variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(T472I)
Single nucleotide variant
(missense variant +1 more)
BTD-related condition
+1 more
GConflicting classifications of pathogenicity
BTD
(C451F +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(D523V)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+1 more
GConflicting classifications of pathogenicity
BTD
(W252*)
Single nucleotide variant
(nonsense +1 more)
Biotinidase deficiency
GPathogenic/Likely pathogenic
BTD
(E487K +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(P372del +1 more)
Microsatellite
(inframe_indel +2 more)
Biotinidase deficiency
GUncertain significance
BTD
(I344fs)
Duplication
(frameshift variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(L402fs)
Duplication
(frameshift variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
Duplication
Biotinidase deficiency
GUncertain significance
BTD
Duplication
Biotinidase deficiency
GUncertain significance
BTD, COLQ
+1 more
Deletion
Biotinidase deficiency
GPathogenic
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
(V368M +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
(V437M)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(G431D)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
BTD
(A419D +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GPathogenic
BTD
(Y418C)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(L385P)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(I314N)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(A251Y +1 more)
Indel
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(N175S)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(D169G)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(C140Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
(A80T)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GLikely pathogenic
BTD
(F31L +1 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GUncertain significance
BTD
(V243L +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+1 more
GUncertain significance
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(E125Q +2 more)
Single nucleotide variant
(missense variant)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GBenign
BTD
(P164S +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(intron variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(S330R +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(F443Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(N420S +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
(Y434D +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GLikely pathogenic
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant)
Biotinidase deficiency
GLikely benign
BTD
Duplication
(frameshift variant +2 more)
Biotinidase deficiency
GPathogenic
BTD
(G393R +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
(V139F +2 more)
Indel
(missense variant)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(V276I +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
GUncertain significance
BTD
Single nucleotide variant
(synonymous variant +1 more)
Biotinidase deficiency
GLikely benign
BTD
(D449G +1 more)
Single nucleotide variant
(missense variant +1 more)
Biotinidase deficiency
+1 more
GConflicting classifications of pathogenicity
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