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Links from MedGen

Items: 1 to 100 of 1012

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
(I914T +7 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(K643fs +7 more)
Deletion
(frameshift variant)
Joubert syndrome 21
GPathogenic
CSPP1
(I642N +7 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
(R1021Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
(Y282C +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(R26Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(I862fs +7 more)
Deletion
(frameshift variant)
Joubert syndrome 21
GPathogenic
CSPP1
(Q386* +7 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 21
GPathogenic
CSPP1
(E258* +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GPathogenic
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Duplication
(splice donor variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(splice donor variant +1 more)
Joubert syndrome 21
GLikely pathogenic
ARFGEF1, CSPP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Microsatellite
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(splice donor variant)
Joubert syndrome 21
GLikely pathogenic
CSPP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
(K441fs +7 more)
Microsatellite
(frameshift variant)
Joubert syndrome 21
GPathogenic
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
(E750K +7 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
(I48fs +1 more)
Duplication
(frameshift variant)
Joubert syndrome 21
GPathogenic
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
(V1127A +7 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
(K616E +7 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
(R756fs +7 more)
Microsatellite
(frameshift variant)
Joubert syndrome 21
GPathogenic
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
(K1125E +7 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Microsatellite
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
(Y675H +7 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
ARFGEF1, CSPP1
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
(S243fs +7 more)
Deletion
(frameshift variant)
Joubert syndrome 21
GPathogenic
ARFGEF1, CSPP1
(G1122D +7 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
ARFGEF1, CSPP1
Single nucleotide variant
(intron variant +1 more)
Joubert syndrome 21
GConflicting classifications of pathogenicity
CSPP1
(K444fs +7 more)
Deletion
(frameshift variant)
Joubert syndrome 21
GPathogenic
CSPP1
Duplication
Joubert syndrome 21
GUncertain significance
CSPP1
Duplication
Joubert syndrome 21
GUncertain significance
CSPP1
Deletion
Joubert syndrome 21
GUncertain significance
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