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Links from MedGen

Items: 1 to 100 of 873

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HLCS
(S390* +1 more)
Single nucleotide variant
(nonsense +1 more)
Holocarboxylase synthetase deficiency
GLikely pathogenic
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(splice donor variant)
Holocarboxylase synthetase deficiency
GLikely pathogenic
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(L353fs +1 more)
Duplication
(frameshift variant +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(E72* +1 more)
Single nucleotide variant
(nonsense +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(W513* +1 more)
Single nucleotide variant
(nonsense +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
(V549A +1 more)
Single nucleotide variant
(missense variant +1 more)
Holocarboxylase synthetase deficiency
GUncertain significance
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(Q22* +1 more)
Single nucleotide variant
(nonsense +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(E513fs +1 more)
Microsatellite
(frameshift variant +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Microsatellite
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Deletion
(nonsense +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
(S502* +1 more)
Single nucleotide variant
(nonsense +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(F540fs +1 more)
Deletion
(frameshift variant +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
(L217* +1 more)
Single nucleotide variant
(nonsense +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(V344fs +1 more)
Deletion
(frameshift variant +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Deletion
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Deletion
(intron variant)
Holocarboxylase synthetase deficiency
GBenign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(L534fs +1 more)
Duplication
(frameshift variant +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
(Y595fs +1 more)
Deletion
(frameshift variant +1 more)
Holocarboxylase synthetase deficiency
GPathogenic
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(intron variant)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
HLCS
Single nucleotide variant
(synonymous variant +1 more)
Holocarboxylase synthetase deficiency
GLikely benign
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