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Items: 1 to 100 of 188

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AUTS2
Single nucleotide variant
(splice donor variant)
Autism spectrum disorder due to AUTS2 deficiency
GLikely pathogenic
RP2
Deletion
(splice donor variant)
Retinitis pigmentosa 2
GPathogenic
DDX3X
Single nucleotide variant
(splice donor variant)
Intellectual disability, X-linked 102
GLikely pathogenic
PAK3
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, X-linked 30
GLikely pathogenic
TACC1
(R262Q +19 more)
Single nucleotide variant
(missense variant +1 more)
Seizure
+1 more
GUncertain significance
ATAD3A
Single nucleotide variant
(splice acceptor variant)
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
GLikely pathogenic
NR4A2
(K225R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
TRRAP
(P1914L +2 more)
Single nucleotide variant
(missense variant)
Developmental delay with or without dysmorphic facies and autism
GLikely pathogenic
POLR2A, LOC126862481
(I848T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
GLikely pathogenic
KCNH1
(G348R +1 more)
Single nucleotide variant
(missense variant)
Zimmermann-Laband syndrome 1
GPathogenic
COL4A1
(G829C)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
GLikely pathogenic
STXBP1
(T476fs +3 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
TCF4
(R102fs +11 more)
Insertion
(frameshift variant)
Pitt-Hopkins syndrome
GLikely pathogenic
PTPN23
(Q428fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
GLikely pathogenic
PTPN23
(L434P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
GUncertain significance
GNAO1
(G42R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with involuntary movements
GPathogenic
USP9X
(R1658Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 99
GUncertain significance
STK4
(R463W)
Single nucleotide variant
(3 prime UTR variant +1 more)
Combined immunodeficiency due to STK4 deficiency
GUncertain significance
CHD2
(V939G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
GLikely pathogenic
GRIN2A
(L642M)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
GLikely pathogenic
PITX1
(S98fs)
Deletion
(frameshift variant)
Clubfoot
GLikely pathogenic
KMT5B
(C133Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 51
GLikely pathogenic
SLC6A3
Single nucleotide variant
(intron variant)
Classic dopamine transporter deficiency syndrome
GUncertain significance
SLC6A3
Indel
(nonsense)
Classic dopamine transporter deficiency syndrome
GPathogenic
RPS6KA3
Single nucleotide variant
(splice acceptor variant)
Coffin-Lowry syndrome
GPathogenic
PPIL1
(T93P)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia, type 14
GUncertain significance
MAGEL2
(W965*)
Single nucleotide variant
(nonsense)
Schaaf-Yang syndrome
GPathogenic
DCTN1
Single nucleotide variant
(splice donor variant)
Neuronopathy, distal hereditary motor, type 7B
GPathogenic
MECP2
(L108P +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
IGF2, INS-IGF2
(E137fs +1 more)
Microsatellite
(frameshift variant +1 more)
Silver-Russell syndrome 3
GPathogenic
SREBF1
(V725I +11 more)
Single nucleotide variant
(missense variant +1 more)
Obesity
+1 more
GConflicting classifications of pathogenicity
ATP1A3
(T360R +2 more)
Single nucleotide variant
(missense variant)
Alternating hemiplegia of childhood 2
+1 more
GPathogenic/Likely pathogenic
DYRK1A
(S619fs +2 more)
Indel
(frameshift variant +1 more)
DYRK1A-related intellectual disability syndrome
GPathogenic
SHANK3
(T1448fs)
Deletion
(frameshift variant)
Phelan-McDermid syndrome
GPathogenic
TUBB3
(R308S +1 more)
Single nucleotide variant
(missense variant)
Complex cortical dysplasia with other brain malformations 1
GLikely pathogenic
CELSR3
Single nucleotide variant
(splice donor variant)
Tourette syndrome
GUncertain significance
MEPCE
(R49* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental delay
GUncertain significance
HIVEP2
(F39fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 43
GLikely pathogenic
ZNF292
(I1518fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder, autosomal dominant 64
GLikely pathogenic
SLC22A5
Single nucleotide variant
(intron variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(G464R +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
MYCN
(K214fs +1 more)
Deletion
(frameshift variant +1 more)
Feingold syndrome type 1
GLikely pathogenic
KCNN2, LOC101927078
(V100fs +2 more)
Duplication
(frameshift variant +1 more)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
GLikely pathogenic
CPNE1, RBM12
(K349M)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental delay
GUncertain significance
NFIB
Single nucleotide variant
(splice acceptor variant)
Macrocephaly, acquired, with impaired intellectual development
GPathogenic
ASXL1
(D396fs +1 more)
Deletion
(frameshift variant)
Bohring-Opitz syndrome
GPathogenic
KMT2B
(S980fs)
Deletion
(frameshift variant)
Intellectual developmental disorder, autosomal dominant 68
GPathogenic
DYRK1A
Single nucleotide variant
(splice acceptor variant)
DYRK1A-related intellectual disability syndrome
GLikely pathogenic
NSUN2
Indel
(missense variant +1 more)
Intellectual disability, autosomal recessive 5
GLikely pathogenic
PTCHD1
(R596W)
Single nucleotide variant
(missense variant)
Autism, susceptibility to, X-linked 4
GUncertain significance
ARID1B
(S1056fs +2 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
MACF1
(R3277P +2 more)
Single nucleotide variant
(missense variant)
Lissencephaly 9 with complex brainstem malformation
GLikely pathogenic
MSL3
(Q203* +3 more)
Single nucleotide variant
(nonsense)
Basilicata-Akhtar syndrome
GPathogenic
BCORL1
(Q1442*)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental delay
GPathogenic
SPRED2
Deletion
Severe postnatal growth retardation
GUncertain significance
TCF7L2
(Q199* +7 more)
Single nucleotide variant
(nonsense)
Autism
+1 more
GPathogenic
NFIX
(L32P +5 more)
Single nucleotide variant
(missense variant)
Malan overgrowth syndrome
GPathogenic
MED12
(P1480L)
Single nucleotide variant
(missense variant)
FG syndrome 1
GLikely pathogenic
EPHA4
(Y19F +1 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
DPAGT1, LOC126861360
(G63S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DPAGT1
(V248M)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 13
GLikely pathogenic
XPO1
(E651V)
Single nucleotide variant
(missense variant +1 more)
Seizure
GUncertain significance
EEF1A2
(P420R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 33
GLikely pathogenic
ZNF462
(R240*)
Single nucleotide variant
(nonsense)
Weiss-kruszka syndrome
GPathogenic
ANKRD11
(E697fs)
Deletion
(frameshift variant)
KBG syndrome
GPathogenic
TTI1
(S838L)
Single nucleotide variant
(missense variant)
Intellectual disability, severe
GLikely pathogenic
TTI1
Single nucleotide variant
(splice donor variant)
Intellectual disability, severe
GPathogenic
KARS1
(P349R +2 more)
Single nucleotide variant
(missense variant)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
GLikely pathogenic
SOX11
(Y118C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
GRIN1
(F817L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 8
GPathogenic
CTNNB1, LOC126806659
(V444fs +1 more)
Duplication
(frameshift variant)
Severe intellectual disability-progressive spastic diplegia syndrome
GPathogenic
MSL2
(A294fs +1 more)
Deletion
(frameshift variant)
Autism
GUncertain significance
SCN8A
(I1721L +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GPathogenic
MEGF8
(R1094W +1 more)
Single nucleotide variant
(missense variant)
MEGF8-related Carpenter syndrome
GUncertain significance
DCHS1
(Q55*)
Single nucleotide variant
(nonsense)
Van Maldergem syndrome 1
GPathogenic
DCHS1
(G3145D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A, TTC36-AS1
(R3705P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wiedemann-Steiner syndrome
GLikely pathogenic
TACC1
(E112K +11 more)
Single nucleotide variant
(missense variant +1 more)
Seizure
+1 more
GUncertain significance
KMT2D
(A3541P)
Single nucleotide variant
(missense variant)
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
GLikely pathogenic
NODAL
(M1T)
Single nucleotide variant
(missense variant +2 more)
Heterotaxy, visceral, 5, autosomal
GConflicting classifications of pathogenicity
KAT6B
(S1334fs +7 more)
Duplication
(frameshift variant)
Genitopatellar syndrome
+1 more
GPathogenic/Likely pathogenic
EIF2B5
(K565fs)
Indel
(frameshift variant)
Vanishing white matter disease
+1 more
GPathogenic
GRIN1
(W563G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HNRNPK
(G376R +1 more)
Single nucleotide variant
(missense variant)
Au-Kline syndrome
+1 more
GUncertain significance
CTB-99A3.1, PPP2R2B
(I407T +6 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
EFTUD2
(R534* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ARCN1
(R170* +1 more)
Single nucleotide variant
(nonsense)
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
GPathogenic
KARS1
(A29P +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
+2 more
GConflicting classifications of pathogenicity
KDM5C
(Q970* +2 more)
Single nucleotide variant
(nonsense +1 more)
Spastic paraplegia
+1 more
GPathogenic
TUBA1A
(I219M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
IQSEC2
(R1055* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
HCN2
(E478del)
Deletion
(inframe_deletion)
HCN2 related developmental and epileptic encephalopathy
+2 more
GConflicting classifications of pathogenicity
HUWE1, LOC126863263
(A1238T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SNAP25
(A199G)
Single nucleotide variant
(missense variant)
Intellectual disability, severe
+1 more
GPathogenic/Likely pathogenic
SEPSECS
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ATAD3A
(R138W +2 more)
Single nucleotide variant
(missense variant)
Harel-Yoon syndrome
+3 more
GUncertain significance
WWOX
Microsatellite
(splice donor variant)
Autosomal recessive spinocerebellar ataxia 12
+3 more
GLikely pathogenic
FBXW11
(E410K +6 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental, jaw, eye, and digital syndrome
GLikely pathogenic
POLR3B, LOC100287944
(R1046H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
+1 more
GPathogenic/Likely pathogenic
FKRP
(S69P)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2I
+5 more
GConflicting classifications of pathogenicity
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