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Links from MedGen

Items: 1 to 100 of 233

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LCK
(P440S +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GPathogenic
LCK
(C414R)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GPathogenic
LCK
Single nucleotide variant
(splice acceptor variant)
Severe combined immunodeficiency due to LCK deficiency
GPathogenic
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(N452K +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Deletion
(nonsense)
Severe combined immunodeficiency due to LCK deficiency
GPathogenic
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
LCK-related disorder
+1 more
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(L245Q)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Microsatellite
(frameshift variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(R196P)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(Y363H +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(A119E)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(L48V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(D63N)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(L80V)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(I287M +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(R89G)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(R219G)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(P126T)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely pathogenic
LCK
(R387H +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(R39*)
Single nucleotide variant
(nonsense)
Severe combined immunodeficiency due to LCK deficiency
GPathogenic
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(R242K)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(G266E +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(N173S)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(F82L)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(Y212F +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(F285L +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Deletion
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(L132R)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(R219Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(N131D)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
(G34R)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(E52Q)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
(Q453K +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to LCK deficiency
GUncertain significance
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
LCK
Single nucleotide variant
(synonymous variant)
Severe combined immunodeficiency due to LCK deficiency
GLikely benign
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