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Links from MedGen

Items: 1 to 100 of 899

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATRN
(C132W)
Single nucleotide variant
(missense variant +1 more)
Autism
+2 more
GUncertain significance
KCNA3
(V460M)
Single nucleotide variant
(missense variant +1 more)
Seizure
+2 more
GLikely pathogenic
KCNA3
(T443I)
Single nucleotide variant
(missense variant)
Seizure
+2 more
GLikely pathogenic
KCNA3
(I431N)
Single nucleotide variant
(missense variant)
Seizure
+2 more
GLikely pathogenic
KCNA3
(A361T)
Single nucleotide variant
(missense variant)
Seizure
+2 more
GUncertain significance
KCNA3
(A357V)
Single nucleotide variant
(missense variant)
Seizure
+2 more
GLikely pathogenic
KCNA3
(P11R)
Single nucleotide variant
(missense variant)
Seizure
+2 more
GLikely pathogenic
KCNA3
(V478M)
Single nucleotide variant
(missense variant +1 more)
Seizure
+2 more
GLikely pathogenic
KCNA3
(G468F)
Indel
(missense variant +1 more)
Seizure
+2 more
GLikely pathogenic
KCNA3
(P477H)
Single nucleotide variant
(missense variant +1 more)
Seizure
+2 more
GLikely pathogenic
VCP
(R580P +1 more)
Single nucleotide variant
(missense variant)
Global developmental delay
GPathogenic
STARD9
Deletion
(frameshift variant)
Seizure
+1 more
GUncertain significance
CASK
(T864K +4 more)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
SYNGAP1, SYNGAP1-AS1
(L274Q)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
TRAF7
(K263T)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
GABBR1
(G496D +3 more)
Single nucleotide variant
(missense variant)
Global developmental delay
+2 more
GLikely pathogenic
GABBR1
(E191D +3 more)
Single nucleotide variant
(missense variant)
Global developmental delay
+2 more
GLikely pathogenic
GABBR1
(A358T +3 more)
Single nucleotide variant
(missense variant)
Global developmental delay
+2 more
GLikely pathogenic
GABBR1
(A220V +3 more)
Single nucleotide variant
(missense variant)
Motor delay
+4 more
GLikely pathogenic
TCF12
(G128fs +2 more)
Deletion
(frameshift variant +1 more)
Global developmental delay
+1 more
GLikely pathogenic
SMARCA5
(E893K)
Single nucleotide variant
(missense variant)
Global developmental delay
+3 more
GPathogenic
SCLT1
(S348fs)
Deletion
(frameshift variant)
Astigmatism
+5 more
GPathogenic
SCLT1
(N687fs)
Duplication
(frameshift variant)
Astigmatism
+5 more
GLikely pathogenic
BFSP2
(W150*)
Single nucleotide variant
(nonsense)
Strabismus
+6 more
GPathogenic
PSMC3
(R304W)
Single nucleotide variant
(missense variant)
Atrial septal defect, ostium secundum type
+11 more
GPathogenic
DST
Deletion
(intron variant +1 more)
Global developmental delay
+3 more
GPathogenic
MKS1
(C492W +3 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 13
GLikely pathogenic
Familial Mediterranean fever
GPathogenic
PNPT1
(A505V)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
PNPT1
(R617*)
Single nucleotide variant
(nonsense)
Global developmental delay
GLikely pathogenic
KMT2E
(K961fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
+1 more
GLikely pathogenic
KCNA2
(H310D)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GLikely pathogenic
CLTC
(I1632fs +1 more)
Duplication
(frameshift variant)
Global developmental delay
GLikely pathogenic
ARID1B
(Y77fs +2 more)
Deletion
(frameshift variant)
Global developmental delay
GLikely pathogenic
KMT5B
(Y135H +4 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
CTB-99A3.1, PPP2R2B
(I407T +6 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
ZMYM3
(R441Q)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+3 more
GUncertain significance
ANKRD11
(L2660S)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
NBEA
(K774N)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
CNOT3
(Y648fs)
Duplication
(frameshift variant)
Global developmental delay
GPathogenic
RERE
(S1143W +1 more)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
SETD5
(F245fs +1 more)
Deletion
(frameshift variant)
Global developmental delay
GPathogenic
SMARCD1
(R165Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRIA4
(A640T)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GLikely pathogenic
ARID5B
(N191fs +1 more)
Deletion
(frameshift variant)
Blue sclerae
+7 more
GUncertain significance
CACNA1A
(A446* +1 more)
Microsatellite
(nonsense)
Episodic ataxia type 2
+2 more
GPathogenic/Likely pathogenic
CDK10
(W220* +1 more)
Single nucleotide variant
(nonsense +1 more)
Global developmental delay
GPathogenic
NONO, ZMYM3
Copy number loss
Global developmental delay
GUncertain significance
HUWE1, MIR98
+1 more
Copy number gain
Global developmental delay
GUncertain significance
AMFR, CAPNS2
+7 more
Copy number loss
Global developmental delay
GPathogenic
NDUFS6, NKD2
+24 more
Copy number gain
Global developmental delay
GUncertain significance
PNPLA4, PUDP
+4 more
Copy number gain
Global developmental delay
GLikely benign
CRIPAK, CTBP1
+23 more
Copy number loss
Global developmental delay
GLikely pathogenic
NLGN4Y, PCDH11Y
+82 more
Copy number gain
Global developmental delay
GPathogenic
ABCD1, ARHGAP4
+26 more
Copy number gain
Global developmental delay
GPathogenic
EPRS1
(I212T)
Single nucleotide variant
(missense variant)
Global developmental delay
GPathogenic
ADGRL1, ADGRL1-AS1
(Y341C +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GLikely pathogenic
ADGRL1, ADGRL1-AS1
(R1173* +1 more)
Single nucleotide variant
(nonsense)
Specific learning disability
+2 more
GPathogenic
ADGRL1, ADGRL1-AS1
(E684fs +1 more)
Duplication
(frameshift variant)
Seizure
+3 more
GPathogenic
ADGRL1, ADGRL1-AS1
(S1159F +1 more)
Single nucleotide variant
(missense variant)
Seizure
+3 more
GPathogenic
ADGRL1, ADGRL1-AS1
(W273* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability
+3 more
GPathogenic
ADGRL1, ADGRL1-AS1
(R1131* +1 more)
Single nucleotide variant
(nonsense)
Specific learning disability
+1 more
GPathogenic
ADGRL1, ADGRL1-AS1
(M1147T +1 more)
Single nucleotide variant
(missense variant)
Global developmental delay
GPathogenic
ADGRL1, ADGRL1-AS1
(W1000R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+3 more
GPathogenic
SHANK2
(E1056* +2 more)
Single nucleotide variant
(nonsense)
Global developmental delay
GPathogenic
POLG, POLGARF
(T251I +1 more)
Single nucleotide variant
(missense variant)
POLG-Related Spectrum Disorders
+1 more
GPathogenic
ARF3
(D93N)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+17 more
GPathogenic/Likely pathogenic
LSM1
(N40Y)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GLikely pathogenic
KIF5B
(L537P)
Single nucleotide variant
(missense variant)
Seizure
+5 more
GPathogenic
DIP2C
Single nucleotide variant
(splice acceptor variant)
Global developmental delay
GUncertain significance
ZBTB10
(R156*)
Single nucleotide variant
(nonsense +1 more)
Astigmatism
+7 more
GUncertain significance
CECR2
(R598* +1 more)
Single nucleotide variant
(nonsense)
Cleft lip
+4 more
GUncertain significance
MTCL3, SOGA3-KIAA0408
(G778R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Decreased body weight
+6 more
GUncertain significance
SHANK1
(R717*)
Single nucleotide variant
(nonsense)
Cleft palate
+4 more
GPathogenic
DDX46
(N939S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hypospadias
+5 more
GUncertain significance
MYH10
(R749* +3 more)
Single nucleotide variant
(nonsense)
Obesity
+4 more
GUncertain significance
ZNF236
(K232E +1 more)
Single nucleotide variant
(missense variant)
Delayed speech and language development
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
Global developmental delay
+3 more
GUncertain significance
MYO7A
(T1267I +1 more)
Single nucleotide variant
(missense variant)
Global developmental delay
+4 more
GUncertain significance
PEX6
Single nucleotide variant
(synonymous variant +1 more)
Megalencephaly
+4 more
GUncertain significance
KARS1
(Q114* +1 more)
Single nucleotide variant
(nonsense +1 more)
Microcephaly
+3 more
GLikely pathogenic
ZNF41
(R50H +4 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability
+2 more
GUncertain significance
ZSCAN10
(S23* +3 more)
Single nucleotide variant
(nonsense)
Global developmental delay
+2 more
GPathogenic
ZSCAN10
(H290fs +3 more)
Deletion
(frameshift variant)
Global developmental delay
+2 more
GPathogenic
DYNC1H1
(E4056K)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
CDK5RAP2
(P45L)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
CDK5RAP2
(R1328Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
TAOK1
(R493C)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
KDM6A
(T303I +5 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
+1 more
GConflicting classifications of pathogenicity
FAT3
(I364T)
Single nucleotide variant
(missense variant)
Global developmental delay
GUncertain significance
CREBBP
Deletion
(inframe_deletion)
Rubinstein-Taybi syndrome
+1 more
GUncertain significance
TONSL, TONSL-AS1
(R524Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TCF4
(R362C +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
+2 more
GPathogenic/Likely pathogenic
TCTN3
(R178H +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
NFE2L1
(R589* +2 more)
Single nucleotide variant
(nonsense)
Global developmental delay
GUncertain significance
KCNA3
(I455V)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
+2 more
GLikely pathogenic
DNMT3A
(C326* +3 more)
Single nucleotide variant
(nonsense +1 more)
Macrocephaly
+6 more
GPathogenic
SIK1
(R385*)
Single nucleotide variant
(nonsense)
Language disorder
+1 more
GLikely pathogenic
EEF1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 33
+3 more
GUncertain significance
EEF1B2
(Y62*)
Duplication
(nonsense)
Global developmental delay
GPathogenic
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