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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCHE
(M1T)
Single nucleotide variant
(missense variant +2 more)
Suxamethonium response - slow metabolism
Gdrug response
CC2D2A
(T196fs +1 more)
Duplication
(frameshift variant)
Joubert syndrome 9
GLikely pathogenic
NSD1
(G356* +4 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
GPathogenic
WT1
(D252Y +10 more)
Single nucleotide variant
(missense variant +1 more)
WT1-related disorder
+2 more
GPathogenic/Likely pathogenic
PIGT
(E184K +2 more)
Single nucleotide variant
(missense variant +1 more)
Multiple congenital anomalies-hypotonia-seizures syndrome 3
GConflicting classifications of pathogenicity
POLE
(E1956V)
Single nucleotide variant
(missense variant)
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
GLikely pathogenic
CHD7
(R1036*)
Single nucleotide variant
(nonsense +1 more)
CHARGE syndrome
+1 more
GPathogenic
POLE
(N1971S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RRM2B
(I296S +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome 8a
+3 more
GPathogenic/Likely pathogenic
RRM2B
(R113W)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome 8a
GPathogenic
COL3A1
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
GPathogenic/Likely pathogenic
GLDC
(T830M)
Single nucleotide variant
(missense variant)
Non-ketotic hyperglycinemia
GPathogenic/Likely pathogenic
TBCE
Deletion
(inframe_deletion +1 more)
Encephalopathy, progressive, with amyotrophy and optic atrophy
+2 more
GPathogenic/Likely pathogenic
PRX
(R1070*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4
+2 more
GPathogenic/Likely pathogenic
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