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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETD1A
(S578T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
Microsatellite
(inframe_insertion)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
(V1251A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
(L759fs)
Insertion
(frameshift variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(G708fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GPathogenic
SETD1A
(E1002fs)
Microsatellite
(frameshift variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(R132H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
(R889W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(Y1510*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(V1084A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
(K1504R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(R176*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GPathogenic
SETD1A
(Q1540*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GPathogenic
SETD1A
(P392T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
(E857*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(E1337A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
(Q3*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(S1433L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
+1 more
GUncertain significance
SETD1A
(Q838*)
Single nucleotide variant
(nonsense)
Epilepsy, early-onset, with or without developmental delay
+1 more
GLikely pathogenic
SETD1A
(D223H)
Single nucleotide variant
(missense variant)
Epilepsy, early-onset, with or without developmental delay
+1 more
GUncertain significance
SETD1A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GUncertain significance
SETD1A
(P596R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SETD1A
(D921N)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
+1 more
GBenign
SETD1A
(Y382fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
SETD1A
(A339fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GPathogenic
SETD1A
(G535fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GPathogenic
SETD1A
(Y1499D)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GPathogenic
SETD1A
Single nucleotide variant
(synonymous variant)
Epilepsy, early-onset, with or without developmental delay
+2 more
GBenign/Likely benign
SETD1A
Deletion
(splice acceptor variant)
Neurodevelopmental disorder with speech impairment and dysmorphic facies
GLikely pathogenic
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