U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLL1
(G399S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(G47E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1, LOC126859913
(T663I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1, LOC126859913
(S711P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(C54*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
(R635fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
DLL1
(E181K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
AFDN, AFDN-DT
+254 more
Copy number loss
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
(V482fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
DLL1
(W280fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
DLL1
(V604fs)
Microsatellite
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
DLL1, LOC126859913
(E712*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
(K338fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
DLL1
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(C263Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(Y503C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(V482I)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(P73L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(T169M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(Y79D)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
DLL1
(A367T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DLL1
(V548M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DLL1
(G205A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(C325Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(P514fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
Insertion
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(A418fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
(A136T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DLL1
(V462M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(R635C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
+2 more
GUncertain significance
DLL1
(Q517H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DLL1, LOC126859913
(P692L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
+1 more
GConflicting classifications of pathogenicity
DLL1
(C56*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
(E26*)
Single nucleotide variant
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
DLL1
(R430H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DLL1
(R392C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DLL1
(A528fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
AACS, ABCB9
+135 more
Copy number gain
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GLikely pathogenic
DLL1
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
(A448V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1, LOC126859913
(R655K)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(G185*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(L283fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DLL1
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(C45Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GUncertain significance
DLL1
(P51fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1, LOC126859913
(E673fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
+1 more
GPathogenic/Likely pathogenic
DLL1
(R509*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
DLL1
(C77*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
(E498*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
DLL1
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination