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Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388541, LOC129388542
+570 more
Copy number gain
See cases
GPathogenic
AK4, ALG6
+339 more
Copy number loss
See cases
GPathogenic
LOC129930848, LOC129930849
+558 more
Copy number loss
See cases
GPathogenic
LOC126805749, LOC126805750
+331 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+270 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+253 more
Copy number loss
See cases
GPathogenic
AK4, ANKRD13C
+210 more
Copy number gain
See cases
GPathogenic
LOC129930731, LOC129930732
+165 more
Copy number loss
See cases
GPathogenic
ACADM, AK5
+188 more
Duplication
not specified
GUncertain significance
ANKRD13C, ANKRD13C-DT
+80 more
Copy number loss
See cases
GPathogenic
ANKRD13C, ANKRD13C-DT
+25 more
Copy number loss
See cases
GUncertain significance
CTH, LOC129930756
Single nucleotide variant
Cystathioninuria
GUncertain significance
CTH, LOC129930756
Single nucleotide variant
(5 prime UTR variant)
Cystathioninuria
GLikely benign
CTH
Single nucleotide variant
(5 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
(D5E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CTH
(P13T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTH
(L43P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTH
Single nucleotide variant
(synonymous variant)
Cystathioninuria
GLikely benign
CTH
(T67I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CTH
(G90A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CTH
(I97V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CTH
(G104E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CTH
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CTH
Single nucleotide variant
(synonymous variant)
Cystathioninuria
GUncertain significance
CTH
(E144Q +1 more)
Single nucleotide variant
(missense variant)
Cystathioninuria
GUncertain significance
CTH
(W155* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cystathioninuria
GUncertain significance
CTH
(T126I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CTH
(K165N +1 more)
Single nucleotide variant
(missense variant +1 more)
Cystathioninuria
GUncertain significance
CTH
(I135T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
CTH
(D181N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CTH
Single nucleotide variant
(intron variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(intron variant)
Cystathioninuria
GUncertain significance
CTH
(C185R +2 more)
Single nucleotide variant
(missense variant)
Cystathioninuria
GUncertain significance
CTH
(R193L +2 more)
Single nucleotide variant
(missense variant)
Cystathioninuria
GUncertain significance
CTH
(Q240E +2 more)
Single nucleotide variant
(missense variant)
Cystathioninuria
GPathogenic
CTH
Single nucleotide variant
(intron variant)
Cystathioninuria
GUncertain significance
CTH
(I206V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTH
(L218fs +2 more)
Microsatellite
(frameshift variant)
Cystathioninuria
GPathogenic
CTH
(R233* +2 more)
Single nucleotide variant
(nonsense)
Cystathioninuria
GLikely pathogenic
CTH
(R221L +2 more)
Single nucleotide variant
(missense variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(synonymous variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(synonymous variant)
Cystathioninuria
+1 more
GConflicting classifications of pathogenicity
CTH
(L332P +2 more)
Single nucleotide variant
(missense variant)
Cystathioninuria
GUncertain significance
CTH
(E345K +2 more)
Single nucleotide variant
(missense variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(splice donor variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(splice donor variant)
Cystathioninuria
GUncertain significance
CTH
(T323fs +2 more)
Deletion
(frameshift variant)
Cystathioninuria
GPathogenic
CTH
Microsatellite
(intron variant)
Cystathioninuria
GLikely benign
CTH
Microsatellite
(intron variant)
not provided
+1 more
GLikely benign
CTH
Microsatellite
(intron variant)
not provided
+1 more
GLikely benign
CTH
(P367A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTH
(S403I +2 more)
Single nucleotide variant
(missense variant)
Cystathioninuria
GBenign
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GLikely benign
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Insertion
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GBenign
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GBenign
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GBenign
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(3 prime UTR variant)
Cystathioninuria
GUncertain significance
CTH
Single nucleotide variant
(genic downstream transcript variant)
Cystathioninuria
GLikely benign
ANKRD13C, CTH
+8 more
Copy number loss
not provided
GUncertain significance
MCOLN3, MIGA1
+97 more
Copy number loss
not specified
GPathogenic
HHLA3, CTH
+1 more
Copy number gain
not provided
GLikely benign
HHLA3, LRRC7
+4 more
Copy number gain
not provided
GLikely benign
ACADM, ANKRD13C
+39 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+65 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+85 more
Deletion
not provided
Gnot provided
ITGB3BP, JAK1
+53 more
Deletion
Intellectual disability, severe
GPathogenic
ANGPTL7, C1orf127
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
ADSS2, SPSB1
+2016 more
Copy number gain
not provided
GPathogenic
SLC16A1, SLC16A4
+2017 more
Copy number gain
not provided
GPathogenic
PTGER3, CTH
Copy number gain
not provided
GUncertain significance
ANKRD13C, CTH
+1 more
Copy number gain
not provided
GLikely benign
AK4, ALG6
+46 more
Copy number gain
not provided
GPathogenic
ACADM, ADGRL2
+94 more
Copy number loss
See cases
GPathogenic
PADI1, PADI2
+2014 more
Copy number gain
See cases
GPathogenic
NID1, NIPAL3
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
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