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Links from MedGen

Items: 1 to 100 of 628

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(E709fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(P528fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(K560del +2 more)
Deletion
(inframe_deletion)
DNA ligase IV deficiency
GUncertain significance
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(E600* +2 more)
Single nucleotide variant
(nonsense)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(F354fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(R226* +2 more)
Single nucleotide variant
(nonsense)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(K595fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
(L810fs +2 more)
Duplication
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(E76* +2 more)
Single nucleotide variant
(nonsense)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(Q773fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(P742fs +2 more)
Microsatellite
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(D472E +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
GUncertain significance
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(H643fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Deletion
(nonsense)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(I658fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
(K102M +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
GUncertain significance
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Deletion
(nonsense)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(Y560C +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
GUncertain significance
LIG4
(M363fs +2 more)
Duplication
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(K357fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(K521* +2 more)
Single nucleotide variant
(nonsense)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(F687fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(R278S +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
GLikely pathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(I265fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(K317fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Indel
(nonsense)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(R159fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(K192fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(H795fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
(R163S +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
GLikely benign
LIG4
(F125fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
GPathogenic
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
LIG4
Single nucleotide variant
(synonymous variant)
DNA ligase IV deficiency
GLikely benign
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