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Links from MedGen

Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTPS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(Y198H +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(P586fs +1 more)
Deletion
(frameshift variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Deletion
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GBenign
CTPS1
(S381F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1, LOC126805717
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(D516G +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Deletion
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
+1 more
GBenign/Likely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(K310N +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(R323L +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1, LOC126805717
(G446R +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(I145T)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1, LOC126805717
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Duplication
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(R102W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
+1 more
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(R294H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(T222A +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1, LOC126805717
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1, LOC126805717
(M308L +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(I274V +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(E267G +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(H33L)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(G64D)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1, LOC126805717
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(H478Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(G152R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(5 prime UTR variant +2 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
(V111A)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(G34R +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(K535R +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Deletion
(splice donor variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
(V14G +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1
Single nucleotide variant
(synonymous variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GLikely benign
CTPS1, LOC126805717
(M444K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CTPS1
(S562P +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CTPS1 deficiency
GUncertain significance
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