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Links from MedGen

Items: 1 to 100 of 540

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
DNAH14
(K1136Q)
Single nucleotide variant
(missense variant)
Seizure
+4 more
GUncertain significance
DNAH14
(L1746S)
Single nucleotide variant
(missense variant)
Seizure
+4 more
GUncertain significance
NPAS4
(S161fs)
Deletion
(5 prime UTR variant +1 more)
Microcephaly
GUncertain significance
SMARCA5
Deletion
(inframe_deletion)
Short stature
+3 more
GPathogenic
PSMC3
(R304W)
Single nucleotide variant
(missense variant)
Atrial septal defect, ostium secundum type
+11 more
GPathogenic
ATP5PO, LOC130066573
(Q12*)
Single nucleotide variant
(nonsense)
Severe global developmental delay
+3 more
GPathogenic
ATP5PO
Single nucleotide variant
(intron variant)
Severe global developmental delay
+3 more
GPathogenic
MCM7
(Q45*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Deeply set eye
+8 more
GPathogenic
Familial Mediterranean fever
GPathogenic
PDZD4
(N4fs)
Deletion
(frameshift variant +1 more)
Movement disorder
+4 more
GUncertain significance
RBM33, DNAJB6
+7 more
Copy number loss
Microcephaly
GPathogenic
RTTN
(L1301S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly
GLikely pathogenic
ARF3
(K127E)
Single nucleotide variant
(missense variant)
Hypotonia
+6 more
GPathogenic
ARF3
(D93N)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+17 more
GPathogenic/Likely pathogenic
ARF3
(D67V)
Single nucleotide variant
(missense variant)
Microcephaly
+4 more
GPathogenic
ARF3
(L12V)
Single nucleotide variant
(missense variant)
Microcephaly
+4 more
GLikely pathogenic
LINC01922, LINC01927
+279 more
Deletion
Nystagmus
+10 more
GPathogenic
MYO7A
Single nucleotide variant
(synonymous variant)
Global developmental delay
+3 more
GUncertain significance
KARS1
(Q114* +1 more)
Single nucleotide variant
(nonsense +1 more)
Microcephaly
+3 more
GLikely pathogenic
PPFIBP1
(R730* +3 more)
Single nucleotide variant
(nonsense)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(Q298* +3 more)
Single nucleotide variant
(nonsense)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(A337fs +3 more)
Deletion
(frameshift variant)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(R135*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(Q354* +3 more)
Single nucleotide variant
(nonsense)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(R658* +3 more)
Single nucleotide variant
(nonsense)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(E320fs +3 more)
Microsatellite
(frameshift variant)
Seizure
+3 more
GPathogenic
PPFIBP1
(Y738fs +3 more)
Deletion
(frameshift variant)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
+4 more
GPathogenic
PPFIBP1
(G579V +3 more)
Single nucleotide variant
(missense variant)
Cerebral calcification
+3 more
GUncertain significance
RTTN
(Y1482fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ALG13
(V596F +3 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
GLikely pathogenic
ANKRD34A, ANKRD35
+15 more
Copy number gain
Microcephaly
+6 more
GUncertain significance
PNPLA4, PUDP
+2 more
Copy number loss
Atonic seizure
+2 more
GUncertain significance
AADAC, SLC33A1
+63 more
Copy number gain
Brachycephaly
+2 more
GPathogenic
RAB3GAP2
(R385C)
Single nucleotide variant
(missense variant)
Warburg micro syndrome 2
+4 more
GUncertain significance
CHKA
(M1T)
Single nucleotide variant
(missense variant +3 more)
Microcephaly
+2 more
GUncertain significance
CHKA
(F201L +5 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
+2 more
GLikely pathogenic
CHKA
(C6fs)
Duplication
(frameshift variant +2 more)
Microcephaly
+2 more
GLikely pathogenic
CHKA
(P176S +4 more)
Single nucleotide variant
(missense variant +2 more)
Microcephaly
+2 more
GLikely pathogenic
CHKA
(R141W +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
+2 more
GLikely pathogenic
IARS1
(D610E +4 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
+1 more
GUncertain significance
IARS1
(E152fs +2 more)
Indel
(frameshift variant +1 more)
Microcephaly
+1 more
GLikely pathogenic
SNAP25
(K201*)
Single nucleotide variant
(nonsense)
Microcephaly
+5 more
GConflicting classifications of pathogenicity
AFG2B
(F71L +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
+6 more
GLikely pathogenic
MCM7
(G259A +1 more)
Single nucleotide variant
(missense variant)
Meier-Gorlin syndrome
+9 more
GPathogenic
IGF1R
(P637fs)
Microsatellite
(frameshift variant)
Microcephaly
+1 more
GLikely pathogenic
NUP188
(C617fs)
Indel
(frameshift variant)
Microcephaly
+1 more
GLikely pathogenic
NUP188
Single nucleotide variant
(splice donor variant)
Microcephaly
+1 more
GLikely pathogenic
BCL11B
(A575fs +3 more)
Deletion
(frameshift variant)
Microcephaly
GLikely pathogenic
ASPM
(R243*)
Single nucleotide variant
(nonsense)
Microcephaly
GPathogenic
CCDC186
(S256*)
Single nucleotide variant
(nonsense +1 more)
EEG with spike-wave complexes
+9 more
GPathogenic
WDR11
Microsatellite
(splice acceptor variant)
not provided
+1 more
GPathogenic
WDR11
(N480fs)
Deletion
(frameshift variant)
Microcephaly
GPathogenic
WDR11
Single nucleotide variant
(splice donor variant)
Microcephaly
GPathogenic
WDR11
(Q419*)
Single nucleotide variant
(nonsense)
Microcephaly
GPathogenic
NEPRO
(A187T +6 more)
Single nucleotide variant
(missense variant +1 more)
Abnormal cerebral white matter morphology
+1 more
GUncertain significance
NEPRO
(G307V +6 more)
Single nucleotide variant
(missense variant +1 more)
Abnormal cerebral white matter morphology
+1 more
GUncertain significance
KIF11
Single nucleotide variant
(synonymous variant)
Microcephaly
GPathogenic
NSRP1
(Q18*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
NSRP1
(K371fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
+4 more
GPathogenic
NSRP1
(E401fs +1 more)
Deletion
(frameshift variant)
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
+4 more
GPathogenic
TIGAR, AKAP3
+14 more
Copy number loss
Global developmental delay
+1 more
GPathogenic
CASK, GPR34
+1 more
Copy number loss
Neurodevelopmental delay
+1 more
GPathogenic
CASK, GPR34
+4 more
Copy number loss
Global developmental delay
+1 more
GPathogenic
AHCTF1, AKT3
+31 more
Copy number loss
Cerebellar vermis hypoplasia
+5 more
GPathogenic
POT1, PTPRZ1
+35 more
Copy number loss
Short stature
+2 more
GPathogenic
BRD8, CDC23
+13 more
Copy number loss
Neurodevelopmental delay
+1 more
GPathogenic
Copy number loss
Generalized hypotonia
+3 more
GPathogenic
NSD2
(W930*)
Single nucleotide variant
(nonsense)
Microcephaly
GUncertain significance
COPB1
(F551V)
Single nucleotide variant
(missense variant)
Baralle-Macken syndrome
+4 more
GPathogenic/Likely pathogenic
COPB1
Single nucleotide variant
(splice donor variant)
Baralle-Macken syndrome
+3 more
GPathogenic/Likely pathogenic
BPTF
(S1643R +1 more)
Single nucleotide variant
(missense variant)
Microcephaly
+1 more
GUncertain significance
ALG3
(T19P +1 more)
Single nucleotide variant
(missense variant +1 more)
Seizure
+2 more
GUncertain significance
KIF26B
(R704C)
Single nucleotide variant
(missense variant)
Microcephaly
GUncertain significance
NUF2
(I124S)
Single nucleotide variant
(missense variant)
Short stature
+1 more
GPathogenic
ABL1
(V506A +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects and skeletal malformations syndrome
+1 more
GPathogenic/Likely pathogenic
COL4A1
(G1186S)
Single nucleotide variant
(missense variant)
Brain small vessel disease 1 with or without ocular anomalies
+1 more
GLikely pathogenic
ZNF292
(V1014fs +1 more)
Microsatellite
(frameshift variant)
Short stature
+2 more
GLikely pathogenic
NUP133
(Q406*)
Single nucleotide variant
(nonsense)
Microcephaly
+2 more
GUncertain significance
BRD4
(P237fs)
Deletion
(frameshift variant)
Microcephaly
+1 more
GLikely pathogenic
ADARB1
(A665S +1 more)
Single nucleotide variant
(missense variant +2 more)
Microcephaly
+2 more
GBenign
LRP6
(S1455fs)
Duplication
(frameshift variant)
Microcephaly
+4 more
GUncertain significance
C7orf76, DLX5
+4 more
Copy number loss
Microcephaly
+1 more
GLikely pathogenic
DSE, FAM229B
+69 more
Copy number gain
Microcephaly
+1 more
GPathogenic
MANEA, UFL1
+3 more
Copy number loss
Microcephaly
+1 more
GLikely pathogenic
ARHGAP23, GPR179
+4 more
Copy number gain
Microcephaly
+1 more
GUncertain significance
CFAP96, UFSP2
(V115E)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 1
+9 more
GConflicting classifications of pathogenicity
CAPN15
Deletion
imperforated anus
+10 more
GLikely pathogenic
MAPK1
(E322Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic
MAPK1
(H80Y)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(I74N)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
LEMD2
(S177F +2 more)
Single nucleotide variant
(missense variant)
Growth delay
+18 more
GLikely pathogenic
GRIN2B
(L480fs)
Deletion
(frameshift variant)
Atypical behavior
+6 more
GPathogenic
BARX1, FAM120A
+11 more
Duplication
Delayed gross motor development
+5 more
GLikely pathogenic
NSMCE2
(D155E)
Single nucleotide variant
(missense variant +1 more)
Dysmorphic features
+4 more
GUncertain significance
GRM7
(E394K)
Single nucleotide variant
(missense variant)
Bilateral multifocal epileptiform discharges
+2 more
GPathogenic
DDX3X
(S583fs +2 more)
Deletion
(frameshift variant +1 more)
Delayed speech and language development
+2 more
GPathogenic
ORC4, MBD5
Copy number loss
Microcephaly
GPathogenic
MAOB, DDX3X
+6 more
Copy number loss
Microcephaly
GPathogenic
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